format-version: 1.2 date: 13:07:2012 16:16 saved-by: csmith auto-generated-by: OBO-Edit 2.1 subsetdef: CvDC_Terms "NHLBI Cardiovascular Development Consortium (CvDC) Terms" subsetdef: Europhenome_Terms "Terms in use by Europhenome" subsetdef: Sanger_Terms "Terms in use by Mouse Genetics Project, Sanger Institute, Wellcome Trust Genome Campus" default-namespace: MPheno.ontology remark: The Mammalian Phenotype Ontology is being developed by Cynthia L. Smith, Susan M. Bello, Carroll W. Goldsmith and Janan T. Eppig, as part of the Mouse Genome Database (MGD) Project, Mouse Genome Informatics (MGI), The Jackson Laboratory, Bar Harbor, ME. Copyright 2007 The Jackson Laboratory. This file contains pre-coordinated phenotype terms, definitions and synonyms that can be used to describe mammalian phenotypes. The ontology is represented as a directed acyclic graph (DAG). It organizes phenotype terms into major biological system headers such as nervous system and respiratory system. Behavior and lethality terms are also represented. This ontology is currently under development. Daily updates are available at the Mouse Genome Informatics (MGI) ftp site (ftp://ftp.informatics.jax.org/pub/reports/index.html#pheno) as well as the OBO Foundry site (http://obofoundry.org/). Questions, comments and suggestions are welcome, and should be directed to pheno@informatics.jax.org MGD is funded by NIH/NHGRI grant HG000330. [Term] id: MP:0000001 name: mammalian phenotype def: "the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan" [MGI:csmith] [Term] id: MP:0000002 name: Morphology def: "OBSOLETE." [MGI:csmith] synonym: "Anatomy" EXACT [] is_obsolete: true [Term] id: MP:0000003 name: abnormal adipose tissue morphology alt_id: MP:0000011 def: "any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue" [MESH:A10.165.114, MGI:cwg] synonym: "adipose tissue abnormalities" BROAD [] synonym: "adipose tissue dysplasia" EXACT [] is_a: MP:0005375 ! adipose tissue phenotype [Term] id: MP:0000005 name: increased brown adipose tissue amount alt_id: MP:0001779 def: "increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MESH:A10.165.114.322] synonym: "increased brown fat" EXACT [] synonym: "increased brown fat amount" RELATED [] is_a: MP:0001778 ! abnormal brown adipose tissue amount [Term] id: MP:0000008 name: increased white adipose tissue amount alt_id: MP:0001782 def: "increased quantity of fat-storing cells/tissue" [MGI:cwg] synonym: "increased white fat" EXACT [] synonym: "increased white fat amount" RELATED [] is_a: MP:0001781 ! abnormal white adipose tissue amount [Term] id: MP:0000010 name: abnormal abdominal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue in the abdomen" [PMID:8941642] synonym: "abnormal abdominal fat depot morphology" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0000012 name: loss of subcutaneous adipose tissue def: "OBSOLETE. reduction in amount or absence of adipose tissue beneath the skin" [PMID:8941642] comment: Obsolete. Use instead the terms decreased subcutaneous adipose tissue amount (MP:0008844) or absent subcutaneous adipose tissue (MP:0008843). is_obsolete: true consider: MP:0008843 consider: MP:0008844 [Term] id: MP:0000013 name: abnormal adipose tissue distribution def: "alterations in the normal placement of body fat" [PMID:10471508] subset: Europhenome_Terms synonym: "abnormal fat distribution" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0000015 name: abnormal ear pigmentation def: "anomaly in the coloration of the ear due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:cwg, MGI:llw2] is_a: MP:0002095 ! abnormal skin pigmentation is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000017 name: big ears def: "outer ears of a greater than normal size" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "enlarged ears" EXACT [] synonym: "increased outer ear size" EXACT [] synonym: "large ears" EXACT [] synonym: "macrotia" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000018 name: small ears def: "outer ears of a smaller than normal size" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased ear size" EXACT [] synonym: "microtia" EXACT [] synonym: "reduced ear size" EXACT [] synonym: "reduced pinna size" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000019 name: thick ears def: "increased width of the epidermal and cartilaginous tissue that makes up the ear" [PMID:1709129] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000020 name: scaly ears def: "ears covered with shedding scales or flakes" [PMID:1709129] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000021 name: prominent ears def: "protuberant outer ears" [PMID:10769039] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000022 name: abnormal ear shape def: "any anomaly in the characteristic surface outline or contour of the external ear" [PMID:10921880] subset: Europhenome_Terms is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000023 name: abnormal ear distance/ position def: "anomaly in the space between or the placement of the outer ears" [MGI:cwg] subset: Sanger_Terms is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000024 name: lowered ear position def: "outer ears are situated below the normal location often giving the perception of protruding from the head" [MGI:llw2] subset: Europhenome_Terms synonym: "protruding ears" BROAD [] is_a: MP:0000023 ! abnormal ear distance/ position [Term] id: MP:0000025 name: otic hypertelorism def: "greater than normal space between the outer ears" [MGI:cwg] synonym: "hypertelorism of ears" EXACT [] synonym: "increased distance between the ears" EXACT [] is_a: MP:0000023 ! abnormal ear distance/ position [Term] id: MP:0000026 name: abnormal inner ear morphology def: "any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [ISBN:0-683-40008-8] synonym: "inner ear dysplasia" EXACT [] xref: GO:0042472 is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0000027 name: horizontal canal defects def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000028 name: abnormal pars superior vestibularis morphology def: "any structural anomaly in the part of the vestibular ganglion that receives fibers from the maculae of the utricle and the sacculae and the ampullae of the anterior and lateral semicircular ducts" [ISBN:0-683-40008-8] synonym: "pars superior vestibularis dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology is_a: MP:0002856 ! abnormal vestibular ganglion morphology [Term] id: MP:0000029 name: abnormal malleus morphology def: "any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0000030 name: abnormal tympanic ring morphology def: "any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached" [ISBN:0-683-40008-8] synonym: "abnormal ectotympanic" RELATED [] synonym: "tympanic ring dysplasia" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology [Term] id: MP:0000031 name: abnormal cochlea morphology def: "any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound" [ISBN:0-683-40008-8] synonym: "cochlear dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000032 name: cochlear degeneration def: "a retrogressive impairment of function or destruction of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound" [ISBN:0-683-40008-8] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0000033 name: absent scala media def: "missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing" [ISBN:0-683-40008-8] synonym: "absent cochlear duct" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0000034 name: abnormal vestibule morphology def: "any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear" [ISBN:0-683-40008-8] synonym: "vestibular dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000035 name: abnormal membranous labyrinth morphology def: "any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear" [ISBN:0-683-40008-8] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000036 name: absent semicircular canals def: "missing organ of balance; consists of three bony tubes within which the semicircular ducts are located" [ISBN:0-683-40008-8] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0000037 name: abnormal lateral semicircular canal morphology def: "any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance" [MGI:anna, MGI:cwg, MGI:smb] synonym: "horizontal semicircular canal dysplasia" EXACT [] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0000038 name: thin semicircular canals def: "OBSOLETE. decreased diameter of the three long bony tubes of the labyrinth that are involved in the sense of balance" [MGI:cwg] is_obsolete: true consider: MP:0002428 [Term] id: MP:0000039 name: abnormal otic capsule morphology def: "any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism" [ISBN:0-683-40008-8] synonym: "abnormal periotic capsule morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000040 name: absent middle ear ossicles def: "missing small bones of the tympanic cavity" [ISBN:0-683-40008-8, PMID:1346922] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0000041 name: absent endolymphatic duct def: "missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac" [ISBN:0-683-40008-8] is_a: MP:0006011 ! abnormal endolymphatic duct morphology [Term] id: MP:0000042 name: abnormal organ of Corti morphology def: "any structural anomaly associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [ISBN:0-683-40008-8] synonym: "abnormal spiral organ morphology" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0000043 name: organ of Corti degeneration def: "a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis" [MGI:cwg] synonym: "degeneration of organ of Corti" EXACT [] is_a: MP:0000032 ! cochlear degeneration is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0000044 name: absent organ of Corti def: "absence of the highly specialized epithelium in the floor of the ductus cochlearis" [PMID:10072433] synonym: "absent acoustic papilla" EXACT [] synonym: "absent spiral organ" EXACT [] is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0000045 name: abnormal hair cell morphology def: "any structural anomaly of the sensory epithelial cells of the inner ear" [ISBN:0-683-40008-8, MGI:pvb] synonym: "abnormal hair cells" BROAD [] synonym: "hair cell dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0000046 name: abnormal sulcus ampullaris morphology def: "any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal ampullary groove morphology" EXACT [] synonym: "abnormal ampullary sulcus morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000047 name: abnormal interdental cells def: "OBSOLETE." [MGI:csmith] is_obsolete: true replaced_by: MP:0004482 [Term] id: MP:0000048 name: abnormal stria vascularis morphology def: "any structural anomaly in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal psalterial cord morphology" EXACT [] synonym: "abnormal stria vascularis ductus cochlearis morphology" EXACT [] synonym: "abnormal vascular stripe morphology" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0000049 name: abnormal middle ear morphology def: "any structural anomaly of any components of the tympanic cavity or its ossicles" [ISBN:0-683-40008-8, MGI:csmith] synonym: "middle ear dysplasia" EXACT [] is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0000051 name: absent process brevus def: "OBSOLETE." [MGI:csmith] is_obsolete: true replaced_by: MP:0003110 [Term] id: MP:0000052 name: early ear unfolding def: "early onset of the opening and spreading out of the outer ear" [PMID:9135074] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000053 name: excessive ear growth def: "overly robust development of the ear" [PMID:9135074] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000054 name: delayed ear emergence def: "late onset of the growth of the outer ear" [PMID:9722615] synonym: "delayed ear elevation" EXACT [] synonym: "delayed ear extroversion" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000060 name: delayed bone ossification def: "late onset of the formation of bone" [PMID:9144284] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0000061 name: fragile skeleton alt_id: MP:0001543 def: "easily damaged or broken bones" [PMID:8393145] synonym: "brittle bones" EXACT [] synonym: "general bone weakness" EXACT [] synonym: "increased susceptibility to bone fracture" EXACT [] synonym: "increased susceptibility to fractures" EXACT [] is_a: MP:0001542 ! abnormal bone strength [Term] id: MP:0000062 name: increased bone mineral density alt_id: MP:0010120 def: "elevation in the amount of mineral per square centimeter of bone (usually g/cm2), used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated BMD" EXACT [] synonym: "elevated bone mineral density" EXACT [] synonym: "increased BMD" EXACT [] synonym: "increased bone density" EXACT [] is_a: MP:0010119 ! abnormal bone mineral density [Term] id: MP:0000063 name: decreased bone mineral density alt_id: MP:0010121 def: "reduction in the amount of mineral per square centimeter of bone (usually g/cm2), used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased BMD" EXACT [] synonym: "decreased bone density" EXACT [] synonym: "osteopenia" EXACT [] synonym: "reduced BMD" EXACT [] synonym: "reduced bone density" EXACT [] synonym: "reduced bone mineral density" EXACT [] is_a: MP:0010119 ! abnormal bone mineral density [Term] id: MP:0000064 name: failure of secondary bone resorption def: "inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts" [PMID:10709991, PMID:1997203] is_a: MP:0004945 ! abnormal bone resorption [Term] id: MP:0000065 name: abnormal bone marrow cavity morphology def: "any structural anomaly of the medullary cavities of the bones" [ISBN:0-683-40008-8, PMID:10709991] comment: Note that this term refers to the structure of the cavity itself, not to the contents of the cavity (i.e. the bone marrow). synonym: "abnormal bone marrow cavities" BROAD [] synonym: "abnormal bone medullary cavity morphology" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0000066 name: osteoporosis def: "reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility" [ISBN:0-683-40008-8, MGI:csmith, PMID:10471508] synonym: "reduced bone mass" RELATED [] is_a: MP:0004016 ! decreased bone mass [Term] id: MP:0000067 name: osteopetrosis def: "excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis" [ISBN:0-683-40008-8, MESH:C05.116.099.708.702.678] is_a: MP:0005605 ! increased bone mass [Term] id: MP:0000069 name: kyphoscoliosis def: "kyphosis combined with scoliosis" [MGI:cml, PMID:11136708] is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000071 name: axial skeleton hypoplasia def: "underdevelopment or reduced size in the skeletal elements of the trunk, usually due to reduced cell number" [ISBN:0-683-40008-8, MGI:csmith, PMID:10572046] synonym: "hypoplastic axial skeleton" EXACT [] is_a: MP:0002114 ! abnormal axial skeleton morphology [Term] id: MP:0000073 name: absent craniofacial bones def: "missing skeletal elements comprising the cranium and face" [PMID:8837770] synonym: "absence of craniofacial bones" EXACT [] is_a: MP:0002116 ! abnormal craniofacial bone morphology [Term] id: MP:0000074 name: abnormal neurocranium morphology alt_id: MP:0000076 def: "any structural anomaly of the bones of the skull enclosing the brain" [ISBN:0-683-40008-8, PMID:10572046] synonym: "abnormal calvaria morphology" EXACT [] synonym: "abnormal cranial vault morphology" EXACT [] synonym: "calvaria dysplasia" EXACT [] synonym: "neurocranium dysplasia" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000075 name: absent neurocranium def: "missing bones of the skull enclosing the brain" [ISBN:0-683-40008-8, PMID:9753320] synonym: "absence of neurocranium" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000077 name: abnormal interparietal bone morphology alt_id: MP:0000110 def: "any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith, PMID:10742104] synonym: "interparietal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000078 name: abnormal supraoccipital bone morphology def: "any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young" [PMID:10742104] synonym: "supraoccipital bone dysplasia" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0000079 name: abnormal basioccipital bone morphology def: "any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young" [ISBN:0-683-40008-8] synonym: "basioccipital bone dysplasia" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology is_a: MP:0010029 ! abnormal basicranium morphology [Term] id: MP:0000080 name: abnormal exoccipital bone morphology def: "any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young" [ISBN:0-683-40008-8, PMID:1680563] synonym: "exoccipital bone dysplasia" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0000081 name: premature suture closure alt_id: Fyler:4336 alt_id: MP:0005268 def: "early fusion of the bones of the skull" [PMID:7597092] subset: CvDC_Terms synonym: "craniostosis" EXACT [] synonym: "craniosynostosis" EXACT [] is_a: MP:0003418 ! premature intramembranous bone ossification [Term] id: MP:0000082 name: overlapping parietal bones def: "parietal bones of the skull partly coincide instead of articulating" [PMID:7597092] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000083 name: ectopic cranial bone growth def: "growth of extra bony structures in or near the cranium" [PMID:7597092] synonym: "heterotopic cranial bone growth" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology is_a: MP:0009585 ! ectopic bone formation [Term] id: MP:0000084 name: abnormal fontanelle morphology def: "any structural anomaly in the membranous interval at the margins of cranial bones in neonates" [ISBN:0-683-40008-8, PMID:9949198] synonym: "abnormal fontanel morphology" EXACT [] synonym: "fontanelle dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0000085 name: large anterior fontanelle def: "enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium" [ISBN:0-683-40008-8, PMID:9949198] synonym: "enlarged anterior fontanelle" EXACT [] synonym: "enlarged frontal fontanelle" EXACT [] synonym: "large anterior fontanel" EXACT [] synonym: "large frontal fontanelle" EXACT [] is_a: MP:0000084 ! abnormal fontanelle morphology [Term] id: MP:0000087 name: absent mandible def: "missing the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absence of mandible" EXACT [] synonym: "agnathia" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology [Term] id: MP:0000088 name: short mandible def: "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [MGI:cwg] synonym: "reduced mandible length" EXACT [] synonym: "truncated mandible" EXACT [] is_a: MP:0004592 ! small mandible [Term] id: MP:0000090 name: absent premaxilla def: "missing anterior and interior portion of the maxilla" [ISBN:0-683-40008-8, PMID:7914451] synonym: "absence of premaxilla" EXACT [] is_a: MP:0002820 ! abnormal premaxilla morphology [Term] id: MP:0000091 name: short premaxilla def: "reduced length of the anterior and interior portion of the maxilla" [ISBN:0-683-40008-8, PMID:9949198] synonym: "short incisive bone" EXACT [] synonym: "truncated maxilla" EXACT [] is_a: MP:0004870 ! small premaxilla [Term] id: MP:0000094 name: absent alveolar process def: "missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets" [ISBN:0-683-40008-8, PMID:7914451] synonym: "absence of alveolar process" EXACT [] synonym: "absent alveolar bone" EXACT [] synonym: "absent alveolar ridge" EXACT [] is_a: MP:0004189 ! abnormal alveolar process morphology [Term] id: MP:0000097 name: short maxilla alt_id: MP:0000093 def: "reduced length of the upper jaw bone" [ISBN:0-683-40008-8, PMID:9949198] synonym: "reduced upper jaw length" EXACT [] is_a: MP:0004540 ! small maxilla [Term] id: MP:0000098 name: abnormal vomer bone morphology def: "any structural anomaly of the triangular flat bone of the nasal septum" [ISBN:0-683-40008-8] synonym: "vomer bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000099 name: absent vomer bone def: "missing triangular flat bone of the nasal septum" [ISBN:0-683-40008-8, PMID:9753320] synonym: "absence of vomer bone" EXACT [] is_a: MP:0000098 ! abnormal vomer bone morphology [Term] id: MP:0000100 name: abnormal ethmoidal bone morphology def: "any structural anomaly of the midline facial bone that encloses the nasal cavity" [ISBN:0-683-40008-8, MGI:csmith] synonym: "ethmoid bone dysplasia" EXACT [] synonym: "ethmoidal bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000101 name: absent ethmoidal bone def: "missing midline facial bone that encloses the nasal cavity" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] is_a: MP:0000100 ! abnormal ethmoidal bone morphology [Term] id: MP:0000102 name: abnormal nasal bone morphology def: "any structural anomaly of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8, PMID:7914451] synonym: "nasal bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000103 name: nasal bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the bone which forms the nasal bridge" [PMID:9949198] synonym: "hypoplastic nasal bone" EXACT [] is_a: MP:0004470 ! small nasal bone [Term] id: MP:0000104 name: abnormal sphenoid bone morphology def: "any structural anomaly of the irregularly shaped bone of the base of the skull" [ISBN:0-683-40008-8, PMID:9753320] synonym: "sphenoid bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000105 name: impaired ossification of basisphenoid bone def: "anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone" [ISBN:0-683-40008-8, PMID:9753320] synonym: "defective ossification of basisphenoid" EXACT [] is_a: MP:0000106 ! abnormal basisphenoid bone morphology is_a: MP:0008273 ! abnormal intramembranous bone ossification [Term] id: MP:0000106 name: abnormal basisphenoid bone morphology def: "any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8] synonym: "basisphenoid bone dysplasia" EXACT [] is_a: MP:0000104 ! abnormal sphenoid bone morphology is_a: MP:0010029 ! abnormal basicranium morphology [Term] id: MP:0000107 name: abnormal frontal bone morphology def: "any structural anomaly of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8, PMID:7914451] synonym: "frontal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000108 name: midline facial cleft def: "incomplete merging or fusion of the tissues (e.g. the two globular processes) along the facial midline that normally unite to form the face" [ISBN:0-683-40008-8, PMID:9753320] is_a: MP:0008797 ! facial cleft [Term] id: MP:0000109 name: abnormal parietal bone morphology def: "any structural anomaly of the curved bone forming part of the vault of the cranium" [PMID:7914451] synonym: "parietal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000111 name: cleft palate alt_id: Fyler:4876 alt_id: MP:0000429 def: "congenital fissure of the tissues normally uniting to form the palate" [ISBN:0-683-40008-8, PMID:9753320] subset: CvDC_Terms synonym: "palatoschisis" EXACT [] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0000114 name: cleft chin def: "incomplete fusion of the chin; usually a fissure" [ISBN:0-683-40008-8, PMID:9256350] is_a: MP:0000458 ! abnormal mandible morphology [Term] id: MP:0000116 name: abnormal tooth development def: "any anomaly in the formation of the teeth" [MGI:cwg] synonym: "tooth development abnormalities" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0000117 name: absent tooth primordium def: "missing the cells that will give rise to teeth" [MGI:tc, PMID:10227294] synonym: "absence of tooth anlage" EXACT [] synonym: "absence of tooth primordium" EXACT [] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0000118 name: arrest of tooth development def: "failure of differentiation of the teeth" [PMID:7958926] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0000119 name: abnormal tooth eruption def: "anomalies in the passage of a tooth through the alveolar process and perforation of the gums" [ISBN:0-683-40008-8, MGI:cwg] synonym: "tooth eruption abnormalities" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0000120 name: malocclusion def: "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [PMID:10742104] subset: Sanger_Terms synonym: "misaligned teeth" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000121 name: failure of tooth eruption def: "inability of the teeth to grow into the oral cavity" [ISBN:0-683-40008-8, PMID:10709991] is_a: MP:0000119 ! abnormal tooth eruption [Term] id: MP:0000122 name: accelerated tooth eruption def: "early onset of the growth of the teeth out of the gums" [PMID:1709129] is_a: MP:0000119 ! abnormal tooth eruption [Term] id: MP:0000124 name: absent teeth def: "absence of some or all of the bony structures of the upper and lower jaws used in mastication" [ISBN:0-683-40008-8, PMID:10709991] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0000125 name: absent incisors def: "absence of the pairs of long teeth that are the most anterior and prominent in the jaw" [MGI:llw2] subset: Sanger_Terms synonym: "absence of incisors" EXACT [] is_a: MP:0005358 ! abnormal incisor morphology [Term] id: MP:0000126 name: brittle teeth def: "fragile and likely to break teeth" [PMID:10742104] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0000127 name: degenerate molars def: "deterioration or loss over time of the molars" [MGI:csmith] synonym: "degenerated molars" EXACT [] is_a: MP:0002689 ! abnormal molar morphology [Term] id: MP:0000128 name: growth retardation of molars def: "developmental delay of the growth of the molars" [PMID:7914451] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0000129 name: ameloblast degeneration def: "a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth" [ISBN:0-683-40008-8, PMID:10742104] synonym: "degeneration of ameloblasts" EXACT [] is_a: MP:0002650 ! abnormal ameloblast morphology [Term] id: MP:0000130 name: abnormal trabecular bone morphology def: "any structural anomaly of bone that has a lattice-like or spongy structure; it is highly vascular and contains intercommunicating spaces filled with bone marrow" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal cancellous bone morphology" EXACT [] synonym: "abnormal spongy bone morphology" EXACT [] synonym: "abnormal spongy spongiosa morphology" EXACT [] synonym: "abnormal spongy substance morphology" EXACT [] synonym: "abnormal substantia trabecularis morphology" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0000131 name: abnormal long bone epiphysis morphology def: "any structural anomaly of the rounded end of a long bone" [PMID:10742104] synonym: "abnormal epiphysis" EXACT [] synonym: "long bone epiphysis dysplasia" EXACT [] is_a: MP:0002113 ! abnormal skeleton development is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0000132 name: thickened long bone epiphysis def: "wider than normal rounded end of a long bone" [ISBN:0-683-40008-8, PMID:10709991] synonym: "thick epiphysis" EXACT [] is_a: MP:0000131 ! abnormal long bone epiphysis morphology [Term] id: MP:0000133 name: abnormal long bone metaphysis morphology def: "any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults" [ISBN:0-683-40008-8, PMID:10709991] synonym: "abnormal metaphysis" EXACT [] synonym: "long bone metaphysis dysplasia" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0000134 name: abnormal compact bone thickness def: "reduced or increased width of the superficial layer of compact bone" [ISBN:0-683-40008-8, PMID:10581033] synonym: "abnormal cortical bone thickness" RELATED [] is_a: MP:0003797 ! abnormal compact bone morphology [Term] id: MP:0000135 name: decreased compact bone thickness def: "thinner than normal superficial layer of compact bone" [PMID:10742104] synonym: "decreased cortical bone thickness" EXACT [] synonym: "reduced compact bone thickness" EXACT [] synonym: "reduced cortical bone thickness" EXACT [] synonym: "thin compact bone" EXACT [] synonym: "thin cortical bone" EXACT [] is_a: MP:0000134 ! abnormal compact bone thickness [Term] id: MP:0000136 name: abnormal microglial cell morphology def: "any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques" [PMID:16322748] is_a: MP:0000952 ! abnormal CNS glial cell morphology is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0000137 name: abnormal vertebrae morphology alt_id: Fyler:4108 alt_id: MP:0001538 def: "any structural anomaly of the bony segments of the spinal column" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal vertebra" BROAD [] synonym: "vertebra defect" BROAD [] synonym: "vertebra dysplasia" EXACT [] synonym: "vertebral anomaly" EXACT [] is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0000138 name: absent vertebrae def: "missing all of the bony segments of the spinal column" [PMID:8837770] synonym: "absence of vertebrae" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0000139 name: absent vertebral transverse processes def: "loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes" [PMID:10804168, PMID:10804169] synonym: "absence of transverse processes" EXACT [] is_a: MP:0004600 ! abnormal vertebral transverse process morphology [Term] id: MP:0000140 name: absent vertebral pedicles def: "loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae" [ISBN:0-683-40008-8, PMID:10804168, PMID:10804169] synonym: "absence of pedicles" EXACT [] is_a: MP:0004604 ! abnormal vertebral pedicle morphology [Term] id: MP:0000141 name: abnormal vertebral body morphology def: "any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8, PMID:10572046] synonym: "abnormal vertebral bodies" BROAD [] synonym: "vertebral body dysplasia" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0000142 name: An Extra Piece of Bone Rostral to C1 def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000143 name: Broadening/Splitting of the Neural Arch of C2 def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0004608 consider: MP:0010703 [Term] id: MP:0000148 name: abnormal shoulder/ pelvic girdle morphology alt_id: MP:0001540 def: "OBSOLETE. any structural anomaly of the bones of the shoulder or of the bones of the pelvis by which the limbs attach to the axial skeleton" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal shoulder/ pelvic girdle" EXACT [] synonym: "shoulder/ pelvic girdle defect" EXACT [] is_obsolete: true consider: MP:0004508 consider: MP:0004509 [Term] id: MP:0000149 name: abnormal scapula morphology def: "any structural anomaly of either or both of the large, flat bones of the back part of the shoulder" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "scapula dysplasia" EXACT [] is_a: MP:0004508 ! abnormal pectoral girdle bone morphology [Term] id: MP:0000150 name: abnormal rib morphology def: "any structural anomaly of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8, PMID:9778510] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal ribs" BROAD [] synonym: "rib defect" BROAD [] synonym: "rib dysplasia" EXACT [] is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0000151 name: absent ribs def: "absence of all the pairs of bony structures that make up the body wall" [PMID:7925010] synonym: "absence of ribs" EXACT [] is_a: MP:0003345 ! decreased rib number [Term] id: MP:0000152 name: absent proximal rib def: "missing part of rib structures near the spine, ribs do not contact vertebrae" [PMID:10804168, PMID:10804169] synonym: "absence of proximal ribs" EXACT [] is_a: MP:0000151 ! absent ribs [Term] id: MP:0000153 name: rib bifurcation def: "forking or division of ribs, may be a result of partial rib fusions" [ISBN:0-683-40008-8] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000154 name: rib fusion def: "appearance of one or more ribs as a single structure" [PMID:10804168, PMID:10804169] subset: Europhenome_Terms subset: Sanger_Terms synonym: "fusion of ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000155 name: asymmetric rib attachment def: "loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum" [PMID:7925010] is_a: MP:0004625 ! abnormal rib attachment [Term] id: MP:0000156 name: Presence of 6 Vertebrosternal Ribs instead of 7 def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0000480 [Term] id: MP:0000157 name: abnormal sternum morphology def: "any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs" [ISBN:0-683-40008-8, PMID:7925010] synonym: "sternum defect" BROAD [] synonym: "sternum dysplasia" EXACT [] is_a: MP:0004508 ! abnormal pectoral girdle bone morphology is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0000158 name: absent sternum def: "missing long flat bone of the chest; articulates with clavicle and first seven rib pairs" [ISBN:0-683-40008-8, PMID:10885747] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0000159 name: abnormal xiphoid process morphology def: "any structural anomaly of the posterior tip of the sternum" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "abnormal xiphisternum morphology" EXACT [] synonym: "abnormal xiphoid cartilage morphology" EXACT [] synonym: "xiphoid process defect" BROAD [] synonym: "xyphoid process dysplasia" EXACT [] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0000160 name: kyphosis alt_id: MP:0000068 def: "forward curvature of the spine, characterized by extensive flexion." [ISBN:0-683-40008-8, MGI:cml, PMID:10804168, PMID:11136708] subset: Sanger_Terms synonym: "humpback" EXACT [] synonym: "hunchback" EXACT [] is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000161 name: scoliosis alt_id: Fyler:4160 alt_id: MP:0000070 def: "lateral and rotational curvature of the spine" [ISBN:0-683-40008-8, PMID:11136708, PMID:9949198] subset: CvDC_Terms subset: Sanger_Terms is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000162 name: lordosis def: "anteriorly convex curvature of the spine" [ISBN:0-683-40008-8, PMID:10804169] subset: Sanger_Terms synonym: "saddle back" EXACT [] is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000163 name: abnormal cartilage morphology def: "any structural anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life" [ISBN:0-683-40008-8] synonym: "cartilage dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0000164 name: abnormal cartilage development def: "anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life" [ISBN:0-683-40008-8] synonym: "abnormal cartilage formation" EXACT [] synonym: "abnormal chondrogenesis" EXACT [] synonym: "dyschondrogenesis" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0000165 name: abnormal long bone hypertrophic chondrocyte zone def: "anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge" [ISBN:0-683-40008-8, PMID:10581033] synonym: "abnormal long bone zone of hypertrophy" RELATED [] is_a: MP:0000164 ! abnormal cartilage development is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0000166 name: abnormal chondrocyte morphology def: "any structural anomaly of a polymorphic cell that forms cartilage" [CL:0000138] synonym: "abnormal chondrocytes" BROAD [] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0000167 name: decreased chondrocyte cell number def: "fewer than normal numbers of polymorphic cells that form cartilage" [CL:0000138] synonym: "decreased number of chondrocytes" EXACT [] synonym: "reduced chondrocyte numbers" EXACT [] is_a: MP:0000166 ! abnormal chondrocyte morphology [Term] id: MP:0000168 name: abnormal bone marrow development def: "anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones" [ISBN:0-683-40008-8] synonym: "abnormal bone marrow formation" EXACT [] is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0000172 name: abnormal bone marrow cell number def: "increased or decreased number of cells that make up the core cavities of bones when compared to controls" [MGI:tc] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0000175 name: absent bone marrow cell alt_id: MP:0000342 def: "lack of cells that make up the core cavities of bones" [MGI:cwg] synonym: "absence of bone marrow cell" EXACT [] synonym: "Loss of bone marrow cell" RELATED [] synonym: "loss of bone marrow cell" RELATED [] is_a: MP:0000333 ! decreased bone marrow cell number [Term] id: MP:0000176 name: bone marrow occupied by adipocytes def: "OBSOLETE. anomalous appearance of fat-forming cells in the bone marrow" [MGI:cwg] is_obsolete: true [Term] id: MP:0000180 name: abnormal circulating cholesterol level alt_id: MP:0001549 alt_id: MP:0005177 def: "anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [ISBN:0-683-40008-8] synonym: "abnormal cholesterol level" BROAD [] synonym: "abnormal total circulating cholesterol level" EXACT [] synonym: "abnormal total plasma cholesterol level" EXACT [] synonym: "abnormal total serum cholesterol level" EXACT [] is_a: MP:0003947 ! abnormal cholesterol level is_a: MP:0003949 ! abnormal circulating lipid level [Term] id: MP:0000181 name: abnormal circulating LDL cholesterol level def: "any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions" [MGI:csmith] synonym: "abnormal LDL cholesterol level" EXACT [] is_a: MP:0000180 ! abnormal circulating cholesterol level is_a: MP:0010330 ! abnormal circulating lipoprotein level [Term] id: MP:0000182 name: increased circulating LDL cholesterol level def: "greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated circulating LDL cholesterol level" EXACT [] synonym: "elevated LDL cholesterol level" EXACT [] synonym: "high LDL cholesterol level" EXACT [] synonym: "increased LDL cholesterol level" EXACT [] is_a: MP:0000181 ! abnormal circulating LDL cholesterol level is_a: MP:0005178 ! increased circulating cholesterol level [Term] id: MP:0000183 name: decreased circulating LDL cholesterol level def: "reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased LDL cholesterol level" EXACT [] synonym: "low circulating LDL cholesterol level" EXACT [] synonym: "low LDL cholesterol level" EXACT [] synonym: "reduced circulating LDL cholesterol level" EXACT [] is_a: MP:0000181 ! abnormal circulating LDL cholesterol level is_a: MP:0005179 ! decreased circulating cholesterol level [Term] id: MP:0000184 name: abnormal circulating HDL cholesterol level alt_id: MP:0001555 def: "any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion" [MGI:csmith] synonym: "abnormal HDL cholesterol level" EXACT [] synonym: "abnormal HDL levels" EXACT [] is_a: MP:0000180 ! abnormal circulating cholesterol level is_a: MP:0010330 ! abnormal circulating lipoprotein level [Term] id: MP:0000186 name: decreased circulating HDL cholesterol level alt_id: MP:0002618 def: "reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased HDL cholesterol level" EXACT [] synonym: "low circulating HDL cholesterol level" EXACT [] synonym: "low HDL cholesterol level" EXACT [] synonym: "low serum HDL level" EXACT [] synonym: "reduced circulating HDL level" EXACT [] is_a: MP:0000184 ! abnormal circulating HDL cholesterol level is_a: MP:0005179 ! decreased circulating cholesterol level [Term] id: MP:0000187 name: abnormal triglyceride level alt_id: MP:0001551 def: "any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal triacylglycerol level" EXACT [] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0000188 name: abnormal circulating glucose level alt_id: MP:0001557 def: "any anomaly in the concentration in the blood of the major monosaccharide of the body" [MGI:cwg] synonym: "abnormal blood glucose level" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0000189 name: hypoglycemia alt_id: MP:0001558 alt_id: MP:0002613 def: "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [ISBN:0-683-40008-8] subset: Europhenome_Terms synonym: "Decreased Blood Glucose Level" BROAD [] synonym: "low blood glucose levels" BROAD [] is_a: MP:0005560 ! decreased circulating glucose level [Term] id: MP:0000192 name: abnormal mineral level alt_id: MP:0001561 def: "any anomaly in the concentration of any inorganic substance that has importance in body functions" [ISBN:0-683-40008-8] is_a: MP:0005636 ! abnormal mineral homeostasis [Term] id: MP:0000194 name: hypercalcemia alt_id: MP:0001563 alt_id: MP:0001768 def: "abnormally high concentration of calcium ions in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased circulating calcium" EXACT [] is_a: MP:0001562 ! abnormal circulating calcium level [Term] id: MP:0000195 name: hypocalcemia alt_id: MP:0001564 alt_id: MP:0001769 def: "subnormal concentrations of calcium ions in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased circulating calcium" EXACT [] is_a: MP:0001562 ! abnormal circulating calcium level [Term] id: MP:0000198 name: hypophosphatemia alt_id: MP:0001567 alt_id: MP:0001774 def: "abnormally low concentrations of phosphates in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001565 ! abnormal circulating phosphate level [Term] id: MP:0000199 name: abnormal circulating serum albumin level alt_id: MP:0001568 def: "anomaly in the blood level of the major blood protein that is important in maintaining the colloidal osmotic pressure, fatty acid transport and transporting large organic molecules" [MESH:D12.776.034.841] synonym: "abnormal albumin level" BROAD [] synonym: "analbuminemia" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0000202 name: abnormal circulating alkaline phosphatase level alt_id: MP:0001571 def: "any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia" [ISBN:0-683-40008-8] synonym: "abnormal alkaline phosphatase level" EXACT [] synonym: "abnormal AP level" EXACT [] synonym: "abnormal circulating ALP levels" EXACT [] xref: GO:0004035 is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0000203 name: abnormal circulating aspartate transaminase level alt_id: MP:0001572 def: "any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid" [ISBN:0-683-40008-8] synonym: "abnormal aspartate aminotransferase level" EXACT [] synonym: "abnormal aspartate transaminase level" EXACT [] synonym: "abnormal AST level" EXACT [] synonym: "abnormal circulating AAT level" EXACT [] synonym: "abnormal circulating ASAT level" EXACT [] synonym: "abnormal circulating serum glutamic oxaloacetic transaminase level" EXACT [] synonym: "abnormal circulating SGOT level" EXACT [] is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0000208 name: decreased hematocrit alt_id: MP:0001580 def: "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MESH:E01.450.375.400] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced hematocrit" EXACT [] is_a: MP:0002596 ! abnormal hematocrit [Term] id: MP:0000215 name: absent erythrocytes def: "lack of mature red blood cells" [PMID:7830794] synonym: "absence of erythrocytes" EXACT [] synonym: "absence of RBCs" EXACT [] synonym: "absence of red blood cells" EXACT [] synonym: "absent definitive erythrocyte" EXACT [] is_a: MP:0002875 ! decreased erythrocyte cell number [Term] id: MP:0000216 name: absent erythroid progenitor cell def: "lack of progenitors of the erythrocyte lineage" [CL:0000038, PMID:7830794] synonym: "absence of erythrocyte precursors" EXACT [] synonym: "absent BFU-E" RELATED [] synonym: "absent blast forming unit erythroid" RELATED [] synonym: "absent burst forming unit erythroid" RELATED [] synonym: "absent CFU-E" RELATED [] synonym: "absent colony forming unit erythroid" RELATED [] synonym: "absent erythrocyte precursors" EXACT [] synonym: "absent erythroid stem cell" RELATED [] is_a: MP:0008973 ! decreased erythroid progenitor cell number [Term] id: MP:0000217 name: abnormal leukocyte cell number alt_id: MP:0001587 def: "any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] synonym: "abnormal WBC cell" EXACT [] synonym: "abnormal white blood cell count" EXACT [] synonym: "abnormal white blood cell number" EXACT [] synonym: "leukocyte count abnormalities" EXACT [] synonym: "white blood cell count abnormalities" EXACT [] synonym: "white blood cell number abnormalities" EXACT [] is_a: MP:0008246 ! abnormal leukocyte morphology is_a: MP:0011180 ! abnormal hematopoietic cell number [Term] id: MP:0000218 name: increased leukocyte cell number def: "greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased leukocyte count" EXACT [] synonym: "increased WBC count" EXACT [] synonym: "increased WBC number" EXACT [] synonym: "increased white blood cell number" EXACT [] synonym: "leukocytosis" EXACT [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0011181 ! increased hematopoietic cell number [Term] id: MP:0000219 name: increased neutrophil cell number def: "greater than normal number of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes" [CL:0000775, MGI:csmith] synonym: "increased neutrophil count" EXACT [] synonym: "increased neutrophil number" EXACT [] synonym: "neutrophilia" EXACT [] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0005065 ! abnormal neutrophil morphology [Term] id: MP:0000220 name: increased monocyte cell number def: "greater than normal monocyte numbers" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased monocyte count" EXACT [] synonym: "increased monocyte number" EXACT [] synonym: "monocytosis" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0002620 ! abnormal monocyte morphology [Term] id: MP:0000221 name: decreased leukocyte cell number def: "reduction in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased leukocyte count" EXACT [] synonym: "decreased WBC count" EXACT [] synonym: "decreased WBC number" EXACT [] synonym: "decreased white blood cell number" EXACT [] synonym: "leukocytopenia" EXACT [] synonym: "leukopenia" EXACT [] synonym: "lymphopenia" NARROW [] synonym: "reduced leukocyte cell number" EXACT [] synonym: "reduced leukocyte count" EXACT [] synonym: "reduced WBC count" EXACT [] synonym: "reduced WBC number" EXACT [] synonym: "reduced white blood cell number" EXACT [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0000222 name: decreased neutrophil cell number def: "reduced count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes" [CL:0000775, MGI:csmith] synonym: "decreased neutrophil count" EXACT [] synonym: "decreased neutrophil number" EXACT [] synonym: "neutropenia" EXACT [] synonym: "reduced neutrophil cell number" EXACT [] synonym: "reduced neutrophil count" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0005065 ! abnormal neutrophil morphology [Term] id: MP:0000223 name: decreased monocyte cell number def: "fewer than normal monocyte numbers" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased monocyte count" EXACT [] synonym: "decreased monocyte number" EXACT [] synonym: "monocytopenia" EXACT [] synonym: "reduced monocyte cell number" EXACT [] synonym: "reduced monocyte count" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0002620 ! abnormal monocyte morphology [Term] id: MP:0000226 name: abnormal mean corpuscular volume alt_id: MP:0001590 def: "deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [ISBN:0-683-40008-8, MGI:cwg] comment: MCV is calculated by dividing the hematocrit by the total number of RBCs and multiplying this number by ten (10). synonym: "abnormal MCV" EXACT [] synonym: "abnormal mean cell volume" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000228 name: abnormal thrombopoiesis alt_id: MP:0000211 alt_id: MP:0000227 alt_id: MP:0001583 alt_id: MP:0001591 alt_id: MP:0001592 alt_id: MP:0002448 def: "abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation" [MESH:G04.335.151.825.798] synonym: "abnormal thrombocyte development" RELATED [] synonym: "abnormal thrombocyte differentiation" RELATED [] is_a: MP:0002123 ! abnormal hematopoiesis is_a: MP:0002417 ! abnormal megakaryocyte morphology [Term] id: MP:0000229 name: abnormal megakaryocyte differentiation alt_id: MP:0001593 def: "atypical production of or inability to produce of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm" [CL:0000556, ISBN:0721601464] synonym: "abnormal megacaryocyte differentiation" EXACT [] synonym: "abnormal megalocaryocyte differentiation" EXACT [] synonym: "abnormal megalokaryocyte differentiation" EXACT [] is_a: MP:0002417 ! abnormal megakaryocyte morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0000230 name: abnormal systemic arterial blood pressure alt_id: MP:0001594 alt_id: MP:0002129 def: "altered tension of the blood within the systemic arteries" [MGI:csmith] subset: Europhenome_Terms synonym: "heart/cardiovascular system: blood pressure anomalies" BROAD [] xref: MGI:2173589 is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0000231 name: hypertension alt_id: MP:0001595 def: "sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [ISBN:0-683-40008-8] is_a: MP:0002842 ! increased systemic arterial blood pressure [Term] id: MP:0000233 name: abnormal blood flow velocity alt_id: MP:0001597 def: "any anomaly in the rate of flow of the blood through vessels" [MGI:cwg] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0000237 name: decreased blood cell number def: "OBSOLETE. fewer than the normal numbers of the various types of blood cells" [PMID:10673499] synonym: "reduced blood cell number" EXACT [] synonym: "reduction in hematopoietic cell types" EXACT [] synonym: "reduction in hemopoietic cell types" EXACT [] is_obsolete: true replaced_by: MP:0011182 [Term] id: MP:0000238 name: absent pre-B cells alt_id: MP:0000349 def: "absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [MGI:tc, PMID:10673499] synonym: "Absence of pre-B cell" EXACT [] synonym: "absence of pre-B cell" EXACT [] synonym: "deficiency of pre-B cells" EXACT [] synonym: "Loss of pre-B cell" EXACT [] synonym: "loss of pre-B cell" EXACT [] is_a: MP:0008209 ! decreased pre-B cell number is_a: MP:0008213 ! absent immature B cells [Term] id: MP:0000239 name: absent common myeloid progenitor cells def: "lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, PMID:10673499] synonym: "absence of myeloid colony forming progenitor cells" EXACT [] synonym: "absent cfu-gemm" RELATED [] synonym: "absent CFU-S" RELATED [] synonym: "absent CMPs" EXACT [] synonym: "absent colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte" RELATED [] synonym: "absent multipotential myeloid stem cell" RELATED [] synonym: "absent myeloid stem cell" RELATED [] synonym: "absent pluripotent stem cell (bone marrow)" RELATED [] synonym: "deficiency of myeloid colony forming progenitor cells" RELATED [] is_a: MP:0000175 ! absent bone marrow cell is_a: MP:0008813 ! decreased common myeloid progenitor cell number [Term] id: MP:0000240 name: extramedullary hematopoiesis def: "formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MESH:G04.335.151.825.463] synonym: "EMH" EXACT [] synonym: "extramedullary hemopoiesis" EXACT [] synonym: "extramedullary myelopoiesis" NARROW [] is_a: MP:0002123 ! abnormal hematopoiesis [Term] id: MP:0000242 name: impaired fertilization def: "defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei" [ISBN:0-683-40008-8] is_a: MP:0005410 ! abnormal fertilization [Term] id: MP:0000243 name: myoclonus def: "involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [ISBN:0-683-40008-8, MESH:C10.597.350.500] is_a: MP:0000743 ! muscle spasm is_a: MP:0000947 ! convulsive seizures [Term] id: MP:0000245 name: abnormal erythropoiesis alt_id: MP:0001608 def: "atypical process of the formation of enucleated fetal and adult erythrocytes" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal definitive erythropoiesis" EXACT [] synonym: "abnormal erythrocytopoiesis" EXACT [] synonym: "erythropoiesis abnormalities" EXACT [] is_a: MP:0002123 ! abnormal hematopoiesis [Term] id: MP:0000247 name: abnormal interleukin-10 physiology def: "OBSOLETE. functional anomaly of this factor that is a co-regulator of mast cell growth and produced by T and B cells" [MGI:pvb] comment: This term is obsolete. Instead, use the terms abnormal circulating interleukin-10 level (MP:0008590) and its children or abnormal interleukin-10 secretion (MP:0008659) and its children. synonym: "abnormal IL-10 physiology" EXACT [] is_obsolete: true consider: MP:0008590 consider: MP:0008659 [Term] id: MP:0000248 name: macrocytosis alt_id: MP:0001610 def: "condition in which erythrocytes are larger than normal in size" [ISBN:0-683-40008-8, MGI:cwg] synonym: "macrocythemia" EXACT [] synonym: "megalocythemia" EXACT [] synonym: "megalocytosis" EXACT [] synonym: "megaolcytosis" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000249 name: abnormal blood vessel physiology def: "any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins" [ISBN:0-683-40008-8] synonym: "abnormal blood vessel function" EXACT [] synonym: "blood vessel defects" BROAD [] synonym: "blood vessel physiology abnormalities" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0000250 name: abnormal vasoconstriction alt_id: MP:0001612 alt_id: MP:0005593 def: "anomaly in the narrowing of the blood vessels by smooth muscle contraction" [ISBN:0-683-40008-8, MESH:G09.330.582.400.920] synonym: "abnormal vascular smooth muscle contraction" EXACT [] is_a: MP:0005595 ! abnormal vascular smooth muscle physiology is_a: MP:0005620 ! abnormal muscle contractility [Term] id: MP:0000255 name: vasculature congestion def: "obstruction of the normal flux of blood within the blood vessel network" [ISBN:0-683-40008-8, MGI:tc] synonym: "congested vasculature" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0000256 name: echinocytosis def: "a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin" [ISBN:0-683-40008-8, MGI:anna, PMID:12594949] synonym: "burr erythrocyte" EXACT [] synonym: "crenation" EXACT [] synonym: "echinosis" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000259 name: abnormal vascular development alt_id: MP:0001620 def: "aberrant process of vascular formation" [ISBN:0-683-40008-8] synonym: "vascular development abnormalities" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0002925 ! abnormal cardiovascular development [Term] id: MP:0000260 name: abnormal angiogenesis alt_id: MP:0001621 def: "aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [ISBN:0-683-40008-8, MGI:csmith] synonym: "angiogenesis abnormalities" EXACT [] is_a: MP:0000259 ! abnormal vascular development [Term] id: MP:0000262 name: poor arterial differentiation def: "failure of or inadequate acquisition of the characteristics and/or functions of the arteries" [ISBN:0-683-40008-8] is_a: MP:0003410 ! abnormal artery development [Term] id: MP:0000263 name: absent organized vascular network def: "formation of vasculature, but failure to differentiate into stereotypic organized pattern" [PMID:9949198] synonym: "absence of organized vascular network" EXACT [] is_a: MP:0001622 ! abnormal vasculogenesis [Term] id: MP:0000264 name: failure of vascular branching def: "failure of vasculature to form divisions (offshoots)" [PMID:9949198] is_a: MP:0003227 ! abnormal vascular branching morphogenesis [Term] id: MP:0000265 name: atretic vasculature def: "absence or absence of the lumen of vasculature" [ISBN:0-683-40008-8] synonym: "vasculature atresia" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0000266 name: abnormal heart morphology alt_id: MP:0000271 def: "any structural anomaly of the hollow, muscular organ that maintains the circulation of the blood" [MESH:A07.541, PMID:7477375] subset: CvDC_Terms subset: Europhenome_Terms synonym: "abnormal cardiac morphology" EXACT [] synonym: "abnormal heart" BROAD [] synonym: "cardiac abnormalities" BROAD [] synonym: "cardiac defects" BROAD [] synonym: "cardiac dysplasia" EXACT [] synonym: "heart abnormalities" BROAD [] synonym: "heart defects" BROAD [] xref: GO:0007505 is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0000267 name: abnormal heart development alt_id: MP:0001624 def: "aberrant formation or incomplete differentiation of the heart" [MGI:csmith, PMID:9949198] synonym: "abnormal cardiac development" EXACT [] synonym: "cardiac development abnormalities" EXACT [] xref: GO:0007505 is_a: MP:0000266 ! abnormal heart morphology is_a: MP:0002925 ! abnormal cardiovascular development [Term] id: MP:0000268 name: abnormal anterior cardiac development def: "OBSOLETE." [MGI:csmith] synonym: "abnormal cardiac development, anterior" EXACT [] synonym: "cardiac development abnormalities, anterior" EXACT [] is_obsolete: true [Term] id: MP:0000269 name: abnormal heart looping def: "any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration" [GO:0001947] synonym: "abnormal cardiac looping" EXACT [] synonym: "abnormal looping morphogenesis" BROAD [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0000270 name: abnormal heart tube morphology def: "any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart" [ISBN:0-683-40008-8] synonym: "abnormal cardiac tube morphology" EXACT [] synonym: "abnormal primitive heart morphology" EXACT [] synonym: "heart tube abnormalities" BROAD [] synonym: "heart tube dysplasia" EXACT [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0000272 name: abnormal aorta morphology alt_id: Fyler:1453 def: "any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries" [ISBN:0-683-40008-8, MESH:A07.231.114.056] subset: CvDC_Terms synonym: "abnormal aortae morphology" EXACT [] synonym: "aorta abnormalities" BROAD [] synonym: "aorta dysplasia" EXACT [] xref: MA:0000062 is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0000273 name: overriding aortic valve alt_id: Fyler:1432 def: "congenitally abnormal position of the aorta where the valve origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left, frequently in conjunction with a ventricular septal defect" [ISBN:0-683-40008-8, MGI:cml] subset: CvDC_Terms synonym: "aortic dextroposition" EXACT [] synonym: "DA" EXACT [] synonym: "dextroposition of the aorta" EXACT [] synonym: "overriding aorta" EXACT [] is_a: MP:0010426 ! abnormal heart and great artery attachment [Term] id: MP:0000274 name: enlarged heart def: "increase over normal size of the heart" [PMID:7477375] synonym: "cardiomegaly" EXACT [] synonym: "macrocardia" EXACT [] synonym: "megacardia" EXACT [] synonym: "megalocardia" EXACT [] is_a: MP:0005406 ! abnormal heart size [Term] id: MP:0000275 name: heart hyperplasia def: "overdevelopment or increased size of the heart, usually due an increased number of cells" [PMID:7926784] synonym: "hyperplastic heart" EXACT [] is_a: MP:0000274 ! enlarged heart [Term] id: MP:0000276 name: heart right ventricle hypertrophy alt_id: Fyler:3609 def: "increased size of the right ventricle" [MGI:csmith] subset: CvDC_Terms synonym: "hypertrophic right ventricle" EXACT [] synonym: "right ventricle hypertrophy" EXACT [] synonym: "right ventricular hypertrophy" EXACT [] is_a: MP:0001625 ! cardiac hypertrophy is_a: MP:0010563 ! increased heart right ventricle size [Term] id: MP:0000277 name: abnormal heart shape def: "any structural anomaly of the form or the patterning of the heart" [PMID:7926784] synonym: "heart shape abnormalities" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0000278 name: abnormal myocardial fiber morphology alt_id: MP:0002994 def: "any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [PMID:7926784] synonym: "abnormal adult cardiomyocyte morphology" EXACT [] synonym: "abnormal cardiac muscle cell morphology" EXACT [] synonym: "abnormal myocardial cell morphology" EXACT [] synonym: "abnormal myocardial fibers" BROAD [] synonym: "myocardial fiber dysplasia" EXACT [] synonym: "myocardial fibers abnormalities" BROAD [] is_a: MP:0004087 ! abnormal muscle fiber morphology is_a: MP:0005329 ! abnormal myocardium layer morphology is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology [Term] id: MP:0000279 name: ventricular hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the two lower chambers of the heart" [ISBN:0-683-40008-8] synonym: "hypoplasia of ventriculum" EXACT [] synonym: "hypoplastic ventriculum" EXACT [] is_a: MP:0002188 ! small heart is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0000280 name: thin ventricular wall def: "decreased depth of the cardiac wall of the heart ventricles" [PMID:9362461] is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0000281 name: abnormal interventricular septum morphology alt_id: Fyler:1815 alt_id: MP:0005484 def: "any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum" [MESH:A07.541.459.750] subset: CvDC_Terms synonym: "abnormal ventricular septum morphology" EXACT [] synonym: "interventricular septum dysplasia" EXACT [] synonym: "ventricular septum dysplasia" EXACT [] is_a: MP:0005294 ! abnormal heart ventricle morphology is_a: MP:0006113 ! abnormal heart septum morphology [Term] id: MP:0000282 name: abnormal interatrial septum morphology alt_id: Fyler:2002 def: "any structural anomaly of the thin membranous structure between the two heart atria" [MESH:A07.541.459] subset: CvDC_Terms synonym: "abnormal atrial septum morphology" EXACT [] synonym: "atrial septum dysplasia" EXACT [] synonym: "interatrial septum dysplasia" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0006113 ! abnormal heart septum morphology [Term] id: MP:0000284 name: double outlet right ventricle alt_id: Fyler:0600 alt_id: Fyler:600 alt_id: MP:0000283 def: "both the aorta and the pulmonary trunk originate, either in whole or in part, from the right ventricle; often found in conjunction with a ventricular septal defect" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "dextraposed ascending aorta" EXACT [] synonym: "DORV" EXACT [] synonym: "double outlet heart right ventricle" EXACT [] synonym: "double-outflow right ventricle" EXACT [] is_a: MP:0010426 ! abnormal heart and great artery attachment [Term] id: MP:0000285 name: abnormal heart valve morphology def: "any structural anomaly of the membranous folds of the heart that prevent reflux of fluid" [MESH:A07.541.510, PMID:7926784] synonym: "abnormal cardiac valve morphology" EXACT [] synonym: "cardiac valve dysplasia" EXACT [] synonym: "heart valve dysplasia" EXACT [] synonym: "valve abnormalities" BROAD [] synonym: "valve defects" BROAD [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0000286 name: abnormal mitral valve morphology alt_id: Fyler:1508 def: "any structural anomaly of the valve between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus)" [ISBN:0-683-40008-8, MESH:A07.541.510.507, PMID:9949198] subset: CvDC_Terms synonym: "abnormal bicuspid valve morphology" EXACT [] synonym: "abnormal mitral valvar morphology" EXACT [] synonym: "mitral valve dysplasia" EXACT [] is_a: MP:0002745 ! abnormal atrioventricular valve morphology [Term] id: MP:0000287 name: heart valve hypoplasia def: "underdevelopment or reduced size of the heart valves, usually due to a reduced number of cells," [PMID:9362461] synonym: "hypoplastic heart valves" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology [Term] id: MP:0000288 name: abnormal pericardium morphology alt_id: Fyler:1900 def: "any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels" [ISBN:0-683-40008-8, MGI:cml, PMID:10072433] subset: CvDC_Terms synonym: "abnormal pericaridal sac morphology" EXACT [] synonym: "pericardial abnormalities" BROAD [] synonym: "pericardium dysplasia" EXACT [] xref: GO:0007513 is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0000291 name: enlarged pericardium def: "extended fibroserous membrane covering the heart and beginning of the great vessels" [PMID:7477375] synonym: "enlarged pericardial sac" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0000292 name: distended pericardium def: "stretched outer parietal layer of the pericardium" [J:25248] synonym: "distended pericardial sacs" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0000293 name: absent myocardial trabeculae alt_id: MP:0000294 def: "absence of the supporting bundles of muscular fibers lining the walls of the heart" [MGI:csmith] synonym: "absence of trabeculae" EXACT [] synonym: "absent trabeculae" EXACT [] synonym: "failure of myocardial trabecular formation" EXACT [] synonym: "failure of trabecular formation" EXACT [] is_a: MP:0002189 ! abnormal myocardial trabeculae morphology [Term] id: MP:0000295 name: trabecula carnea hypoplasia def: "underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, usually due to a reduced number of cells" [PMID:7477375] subset: CvDC_Terms synonym: "poorly developed trabecula carnea" EXACT [] synonym: "poorly developed ventricular trabeculae" EXACT [] is_a: MP:0004067 ! abnormal trabecula carnea morphology is_a: MP:0010502 ! ventricle myocardium hypoplasia is_a: MP:0010503 ! myocardial trabeculae hypoplasia [Term] id: MP:0000296 name: absent trabeculae carneae def: "missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [PMID:9362461] synonym: "absence of ventricular trabeculae" EXACT [] synonym: "absent columnae carneae" EXACT [] synonym: "absent fleshy beams" EXACT [] synonym: "absent Rathke bundles" EXACT [] synonym: "absent ventricular trabeculae" EXACT [] is_a: MP:0000293 ! absent myocardial trabeculae is_a: MP:0004067 ! abnormal trabecula carnea morphology [Term] id: MP:0000297 name: abnormal atrioventricular cushion morphology def: "any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal endocardial cushion" BROAD [] synonym: "abnormal endocardial cushion morphology" BROAD [] synonym: "atrioventricular cushion dysplasia" EXACT [] synonym: "endocardial cushion abnormalities" BROAD [] xref: GO:0007505 is_a: MP:0006107 ! abnormal fetal atrioventricular canal morphology [Term] id: MP:0000298 name: absent atrioventricular cushions def: "absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [MGI:csmith] synonym: "absence of endocardial cushion" BROAD [] synonym: "absent endocardial cushion" BROAD [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology [Term] id: MP:0000299 name: failure of atrioventricular cushion closure def: "failure of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices" [PMID:7477375] synonym: "failure of endocardial cushion closure" EXACT [] synonym: "failure of endocardial cushion fusion" EXACT [] synonym: "failure of endocardial cushions to fuse" EXACT [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology is_a: MP:0010599 ! abnormal fetal atrioventricular canal septation [Term] id: MP:0000300 name: thin atrioventricular cushion def: "reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [PMID:9362461] synonym: "thin endocardial cushions" BROAD [] is_a: MP:0000301 ! decreased atrioventricular cushion size [Term] id: MP:0000301 name: decreased atrioventricular cushion size def: "smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [ISBN:0-683-40008-8, PMID:7477377] synonym: "decreased endocardial cushion size" BROAD [] synonym: "decreased size of endocardial cushions" BROAD [] synonym: "reduced atrioventricular cushion size" EXACT [] synonym: "reduced endocardial cushion size" BROAD [] synonym: "reduced size of endocardial cushions" BROAD [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology [Term] id: MP:0000304 name: abnormal cardiac stroke volume alt_id: MP:0001628 def: "anomaly in the volume of blood pushed into the aorta with each beat of the heart" [MESH:E01.370.370.380.150.700, MGI:cwg] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0000306 name: abnormal pulse alt_id: MP:0001630 def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0004085 [Term] id: MP:0000307 name: abnormal heart sounds alt_id: MP:0001631 def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000313 name: abnormal cell death alt_id: MP:0001647 def: "any anomaly in the cessation of function at the cellular level" [ISBN:0-683-40008-8] synonym: "abnormal cellular death" EXACT [] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0000314 name: schistocytosis def: "the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels" [MGI:anna, PMID:12594949] synonym: "fragmented erythrocytes" EXACT [] synonym: "fragmented red blood cells" RELATED [] synonym: "schizocytosis" EXACT [] is_a: MP:0002643 ! poikilocytosis [Term] id: MP:0000315 name: hemoglobinuria def: "the presence of hemoglobin in the urine, including certain closely related pigments that are formed from slight alteration of the hemoglobin molecule" [MGI:anna, PMID:12594949] synonym: "increased urine hemoglobin level" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0000316 name: cellular necrosis def: "pathologic death of cells, usually from irreversible damage" [ISBN:0-683-40008-8] is_a: MP:0001651 ! necrosis [Term] id: MP:0000317 name: abnormal cell number def: "OBSOLETE. any anomaly in the numbers of cells" [MGI:cwg] is_obsolete: true [Term] id: MP:0000318 name: increased cell number def: "OBSOLETE. greater than expected number of cells" [MGI:cwg] is_obsolete: true [Term] id: MP:0000319 name: increased activated B cell number def: "OBSOLETE." [MGI:csmith] synonym: "increased activated B-cell number" EXACT [] is_obsolete: true [Term] id: MP:0000321 name: increased bone marrow cell number alt_id: MP:0000173 def: "increased number of cells that make up the core cavities of bones when compared to the normal state" [MGI:tc] synonym: "bone marrow hyperplasia" BROAD [] is_a: MP:0000172 ! abnormal bone marrow cell number [Term] id: MP:0000322 name: increased granulocyte number alt_id: MP:0000719 def: "greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "granulocytosis" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0000324 name: increased mast cell number def: "greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation" [MESH:A.11.329.427] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0000359 ! abnormal mast cell morphology [Term] id: MP:0000327 name: hemosiderinuria def: "the presence of hemosiderin in the urine; hemosiderin is an intracellular storage form of iron, found in the form of pigmented yellow to brown granules consisting of a complex of ferric hydroxides, polysaccharides, and proteins with an iron content of about 33 per cent by weight" [MGI:anna, PMID:12594949] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0000328 name: increased enterocyte cell number def: "greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen" [CL:0000584] synonym: "increased enterocyte number" EXACT [] synonym: "increased intestinal cell number" BROAD [] is_a: MP:0000481 ! abnormal enterocyte cell number [Term] id: MP:0000329 name: decreased cell number def: "OBSOLETE. fewer than expected number of cells" [MGI:cwg] synonym: "reduced cell number" EXACT [] is_obsolete: true [Term] id: MP:0000330 name: decreased activated B cell number def: "OBSOLETE." [MGI:csmith] synonym: "decreased activated B lymphocyte number" EXACT [] synonym: "decreased activated B-cell number" EXACT [] is_obsolete: true [Term] id: MP:0000332 name: hemoglobinemia def: "the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis" [MGI:anna, PMID:12594949] is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0000333 name: decreased bone marrow cell number alt_id: MP:0000174 def: "decreased number of cells that make up the core cavities of bones when compared to the normal state" [MGI:tc, PMID:10716451] synonym: "bone marrow hypoplasia" BROAD [] synonym: "hypocellular bone marrow" BROAD [] synonym: "reduced bone marrow cell number" EXACT [] is_a: MP:0000172 ! abnormal bone marrow cell number [Term] id: MP:0000334 name: decreased granulocyte number alt_id: MP:0000723 def: "fewer than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "agranulocytosis" EXACT [] synonym: "granulocytopenia" EXACT [] synonym: "reduced granulocyte number" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0000336 name: decreased mast cell number def: "fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation" [MESH:A.11.329.427] synonym: "reduced mast cell number" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0000359 ! abnormal mast cell morphology [Term] id: MP:0000339 name: decreased enterocyte cell number def: "fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen" [CL:0000584] synonym: "decreased intestinal cell number" BROAD [] synonym: "reduced enterocyte number" EXACT [] synonym: "reduced intestinal cell number" BROAD [] is_a: MP:0000481 ! abnormal enterocyte cell number [Term] id: MP:0000340 name: absence of cell def: "OBSOLETE." [MGI:csmith] synonym: "loss of cell" EXACT [] is_obsolete: true [Term] id: MP:0000341 name: abnormal bile color def: "a change in the color of the bile from the normal yellowish brown or green" [J:80519] is_a: MP:0005085 ! abnormal gallbladder physiology [Term] id: MP:0000343 name: altered response to myocardial infarction def: "change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [ISBN:0-683-40008-8, MESH:C14.280.647.500] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0000344 name: absent Cajal-Retzius cell alt_id: MP:0000793 alt_id: MP:0000817 def: "the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus" [MGI:tc, PMID:10716451] synonym: "absence of Cajal-Retzius cell" EXACT [] synonym: "loss of Cajal-Retzius cell" BROAD [] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0008031 ! decreased Cajal-Retzius cell number [Term] id: MP:0000346 name: broad head def: "a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0000348 name: abnormal aerobic fitness def: "any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity" [MGI:csmith, RGD:cur] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0000350 name: abnormal cell proliferation def: "anomaly in the ability of the a cell population to undergo expansion by cell division" [ISBN:0-683-40008-8] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0000351 name: increased cell proliferation def: "increase in the expansion rate of a cell population by cell division" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation [Term] id: MP:0000352 name: decreased cell proliferation def: "reduction in the expansion rate of a cell population by cell division" [MGI:csmith] synonym: "reduced cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation [Term] id: MP:0000353 name: Abnormal Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000354 name: Increased Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000355 name: Increased Purkinje Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000356 name: Decreased Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000357 name: Decreased Purkinje Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000358 name: abnormal cell morphology alt_id: MP:0000311 alt_id: MP:0000312 def: "any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [MESH:A11, MGI:cwg] synonym: "abnormal cell" BROAD [] synonym: "abnormal cell content" NARROW [] synonym: "abnormal cell content or morphology" EXACT [] synonym: "cell abnormalities" BROAD [] synonym: "cellular abnormalities" BROAD [] is_a: MP:0005384 ! cellular phenotype [Term] id: MP:0000359 name: abnormal mast cell morphology def: "any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation" [ISBN:068340007X, MESH:A.11.329.427] is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0000360 name: absent metachromatic granules def: "OBSOLETE. lack of intracellular storage compartments that stain a different color than that of the dye used" [ISBN:0-683-40008-8, MGI:cwg] is_obsolete: true [Term] id: MP:0000361 name: decreased mast cell protease storage def: "reduced amounts of proteolytic enzymes stored in mast cells" [MGI:cwg] synonym: "reduced mast cell protease storage" EXACT [] synonym: "reduced storage of mast-cell proteases" EXACT [] is_a: MP:0000359 ! abnormal mast cell morphology [Term] id: MP:0000362 name: decreased mast cell histamine storage def: "reduced amounts of histamine stored in mast cells" [MGI:cwg] synonym: "decreased histamine storage" BROAD [] synonym: "reduced histamine storage" BROAD [] synonym: "reduced mast cell histamine storage" EXACT [] synonym: "reduced storage of histamine" BROAD [] is_a: MP:0000359 ! abnormal mast cell morphology [Term] id: MP:0000363 name: Abnormal Cell Behavior def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000364 name: abnormal vascular regression def: "premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress" [MGI:smb] is_a: MP:0009577 ! abnormal developmental vascular remodeling [Term] id: MP:0000365 name: Abnormal Hematopoietic/Hemopoietic/ Hematogenic/Hemogenic/Sanguifacient Cell Behavior def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000366 name: Impaired Proliferative Response of Hematopoietic Cells to Mitogens def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000367 name: abnormal coat/ hair morphology def: "any anomaly in the color, structure, growth, or texture of the hair" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal coat/ hair" BROAD [] synonym: "abnormal pelage morphology" EXACT [] synonym: "coat/ hair abnormalities" BROAD [] synonym: "coat/ hair anomalies" BROAD [] is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000370 name: head blaze def: "the appearance of a stripe of white fur on the head" [MGI:csmith] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0000371 name: diluted coat color def: "a coat color that appears lighter in intensity or paler than normal" [MGI:csmith] subset: Sanger_Terms synonym: "dilute coat" EXACT [] synonym: "light coat color" EXACT [] synonym: "pale coat color" EXACT [] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0000372 name: irregular coat pigmentation def: "uneven coloration of the hair" [J:65030] subset: Europhenome_Terms is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0000373 name: belly spot def: "the appearance of a round area of white fur on the belly" [MGI:csmith] subset: Sanger_Terms is_a: MP:0002938 ! white spotting [Term] id: MP:0000374 name: pink fur hue def: "OBSOLETE. hairs have a prominent pink tinge" [PMID:10769039] is_obsolete: true [Term] id: MP:0000376 name: folliculitis def: "inflammatory reaction in hair follicles" [ISBN:0-683-40008-8, PMID:8941642] is_a: MP:0000377 ! abnormal hair follicle morphology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0000377 name: abnormal hair follicle morphology alt_id: MP:0000375 def: "any structural anomaly of the invagination of the epidermis from which the hair shaft develops" [MESH:A10.272.497.500] synonym: "abnormal hair follicle structure" EXACT [] synonym: "abnormal hair follicles" BROAD [] synonym: "hair follicle dysplasia" EXACT [] synonym: "hair follicle structure abnormalities" EXACT [] synonym: "hair follicles abnormalities" BROAD [] is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000378 name: absent hair follicles def: "missing epidermal invaginations from which the hair shaft develops" [MESH:A10.272.497.500] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000379 name: decreased hair follicle number def: "fewer number of the epidermal invaginations from which the hair shaft develops" [MESH:A10.272.497.500] synonym: "reduced hair follicle number" EXACT [] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000380 name: small hair follicles def: "reduced size of the invagination of the epidermis from which the hair shaft develops" [MESH:A10.272.497.500, PMID:10469309] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000381 name: enlarged hair follicles def: "increased size of the epidermal invaginations from which the hair shaft develops" [MESH:A10.272.497.500] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000382 name: underdeveloped hair follicles def: "arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops" [ISBN:0-683-40008-8, MESH:A10.272.497.500] is_a: MP:0000377 ! abnormal hair follicle morphology is_a: MP:0003704 ! abnormal hair follicle development [Term] id: MP:0000383 name: abnormal hair follicle orientation def: "misaligned hair follicles; hair follicles that do not orient in a typical pattern" [PMID:9573048] subset: Sanger_Terms is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000384 name: distorted hair follicle pattern def: "twisted or contorted configuration of the arrangement of hair follicles in the skin" [PMID:10469309] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000385 name: distended hair follicles def: "follicles that have swollen or expanded from the skin" [J:53379] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000386 name: abnormal hair follicle root sheath def: "OBSOLETE. anomalies of the epidermal-derived layer surrounding the hair follicle; innermost of two layers" [MGI:cwg] comment: Obsolete. Use either abnormal hair follicle outer root sheath morphology (MP:0010684) or abnormal hair follicle inner root sheath morphology (MP:0010685). synonym: "hair follicle root sheath abnormalities" EXACT [] is_obsolete: true consider: MP:0010684 consider: MP:0010685 [Term] id: MP:0000387 name: disorganized inner root sheath cells def: "disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle" [CL:0002560] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology [Term] id: MP:0000388 name: absent hair follicle inner root sheath def: "absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle" [PMID:19211055] synonym: "absent inner root sheath" RELATED [] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology [Term] id: MP:0000389 name: disorganized outer root sheath cells def: "disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis" [PMID:10469309] is_a: MP:0010684 ! abnormal hair follicle outer root sheath morphology [Term] id: MP:0000390 name: disorganized matrix sheath cells def: "disordered layer of matrix cells of the hair follicle" [PMID:10469309] is_a: MP:0010686 ! abnormal hair follicle matrix region morphology [Term] id: MP:0000391 name: premature hair follicle generation def: "early onset of hair follicle development" [PMID:9135074] is_a: MP:0003704 ! abnormal hair follicle development [Term] id: MP:0000392 name: accelerated hair follicle regression def: "earlier onset of catagen phase during the cyclic transformation of the hair follicle" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0003875 ! abnormal hair follicle regression [Term] id: MP:0000393 name: persistent hair follicle morphogenesis def: "continuous induction of de novo hair follicles in the epidermis" [J:51296] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000394 name: absent hair follicle melanin granules def: "absence of the pigment polymers located in the hair follicles" [MGI:llw2] synonym: "absence of melanin granules in hair follicle" EXACT [] synonym: "absent melanin granules in hair follicle" EXACT [] is_a: MP:0005072 ! abnormal hair follicle melanin granule morphology [Term] id: MP:0000395 name: abnormal hair types def: "OBSOLETE. any structural anomaly of the different subsets of types of hairs or change to the expected complement of different hair types" [PMID:9573048] is_obsolete: true consider: MP:0000367 consider: MP:0000397 consider: MP:0000400 consider: MP:0000402 consider: MP:0000405 [Term] id: MP:0000396 name: increased curvature of hairs def: "greater bending arch of the distinct C- or S- shaped curvature of the hairs" [J:4606] is_a: MP:0003809 ! abnormal hair shaft morphology [Term] id: MP:0000397 name: abnormal guard hair morphology def: "any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2] synonym: "abnormal monotrich hair morphology" EXACT [] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000398 name: splitting of guard hairs def: "intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2, PMID:9808631] synonym: "splitting of monotrich hair" EXACT [] is_a: MP:0000397 ! abnormal guard hair morphology [Term] id: MP:0000399 name: increased curvature of guard hairs def: "greater bending arch of the guard hairs" [PMID:9573048] synonym: "increased curvature of monotrich hair" EXACT [] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000397 ! abnormal guard hair morphology [Term] id: MP:0000400 name: abnormal awl hair morphology def: "any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla" [ISBN:0-8493-8372-2] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000401 name: increased curvature of awl hairs def: "greater bending arch of the awl hairs" [PMID:9573048] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000400 ! abnormal awl hair morphology [Term] id: MP:0000402 name: abnormal zigzag hair morphology def: "any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla" [ISBN:0-8493-8372-2] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000403 name: increased curvature of zigzag hairs def: "greater bending arch of the zigzag hairs" [PMID:9573048] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000402 ! abnormal zigzag hair morphology [Term] id: MP:0000404 name: decreased curvature of zigzag hairs def: "smaller bending arch of the zigzag hairs" [PMID:10804183] synonym: "reduced curvature of zigzag hairs" EXACT [] is_a: MP:0000402 ! abnormal zigzag hair morphology [Term] id: MP:0000405 name: abnormal auchene hair morphology def: "any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla" [ISBN:0-8493-8372-2, MGI:csmith] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000406 name: increased curvature of auchene hairs def: "greater bending arch of the auchene hairs" [PMID:9573048] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000405 ! abnormal auchene hair morphology [Term] id: MP:0000407 name: abnormal duvet hair morphology def: "any structural anomaly of the fine under hair of the coat" [MGI:cwg] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000408 name: absent duvet hair def: "absence of the of the fine under hair of the coat" [MGI:cwg] synonym: "absence of duvet hair" EXACT [] is_a: MP:0000407 ! abnormal duvet hair morphology [Term] id: MP:0000410 name: waved hair def: "hair or fur having undulations or a sinusoidal shape" [PMID:9573048] subset: Sanger_Terms synonym: "curly hair" EXACT [] synonym: "waved fur" EXACT [] synonym: "wavy hair" EXACT [] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0000411 name: shiny fur def: "fur with a glossy or glistening appearance" [J:45065] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0000412 name: excessive hair def: "greater amount of body hair compared to controls" [MGI:csmith] synonym: "hypertrichosis" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000413 name: polyphalangy def: "increased number of phalanges in any of the digits" [J:13069, MGI:csmith] is_a: MP:0005306 ! abnormal phalanx morphology [Term] id: MP:0000414 name: alopecia def: "absence of hair due to loss of hair; not in reference to primary genetic hairlessness but may be due to dietary, stress or secondary to immune condition" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "absence of hair" BROAD [] synonym: "absence of hair shaft" BROAD [] synonym: "absent hair shaft" BROAD [] synonym: "baldness" EXACT [] synonym: "hair loss" EXACT [] synonym: "hairless" RELATED [] synonym: "loss of hair" EXACT [] synonym: "no hair shaft" BROAD [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000416 name: sparse hair alt_id: MP:0000415 def: "body hair that is less dense; may be due to reduced follicle numbers or due to the inability to retain some of the hairs of the coat over time" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypotrichosis" BROAD [] synonym: "partial hair loss" RELATED [] synonym: "sparse fur" EXACT [] synonym: "thin coat" EXACT [] synonym: "thin hair" RELATED [] is_a: MP:0001510 ! abnormal coat appearance is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000417 name: short hair def: "reduced average length of the hairs" [J:64948] subset: Sanger_Terms is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000418 name: focal hair loss alt_id: MP:0006368 def: "focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting visible patches of skin and uneven spots of hair growth on the body" [ISBN:0-8493-8372-2] subset: Europhenome_Terms subset: Sanger_Terms synonym: "localized bare skin" RELATED [] synonym: "localized hair loss" RELATED [] synonym: "patchy fur" EXACT [] synonym: "patchy hair" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000419 name: rough hair def: "OBSOLETE. greasy, matted appearance of the fur" [MGI:csmith] is_obsolete: true [Term] id: MP:0000420 name: ruffled hair def: "fuzzy, irregular appearance of the hair" [J:50844] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0000421 name: mottled coat def: "coat has spots, streaks, and/or blotches of a different color" [J:17194] synonym: "mottled fur" EXACT [] is_a: MP:0005366 ! variegated coat color [Term] id: MP:0000422 name: delayed hair appearance def: "late onset of the first appearance of the fur" [J:17792] synonym: "delayed hair growth" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000423 name: delayed hair regrowth def: "slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase" [PMID:10742104] is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0000424 name: retarded hair growth def: "slow growth of the hair, appears at normal time" [J:5476] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000425 name: loss of eyelid cilia def: "inability to retain the eyelashes" [PMID:9420327] synonym: "loss of cilia" BROAD [] synonym: "loss of eyelashes" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000426 name: ectopic hair growth def: "positional abnormality of hair" [J:24350] synonym: "heterotopic hair growth" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000427 name: abnormal hair cycle def: "aberrant timing of growth and regression of the hair follicles" [MGI:llw2, MGI:Sanger_Karp] is_a: MP:0010680 ! abnormal skin adnexa physiology [Term] id: MP:0000428 name: abnormal craniofacial morphology def: "any structural anomaly of the face and/or cranium" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "craniofacial abnormalities" BROAD [] synonym: "craniofacial defects" BROAD [] synonym: "craniofacial dysplasia" EXACT [] is_a: MP:0005382 ! craniofacial phenotype [Term] id: MP:0000430 name: absent maxillary shelf alt_id: MP:0000112 def: "missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith, PMID:7914451] synonym: "absent maxillary palatal process" EXACT [] synonym: "absent palatal process of maxilla" EXACT [] synonym: "absent palatine process" EXACT [] is_a: MP:0004538 ! abnormal maxillary shelf morphology [Term] id: MP:0000431 name: absent palatine shelf alt_id: MP:0000113 def: "missing bony projection of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith, PMID:7914451] synonym: "absent horizontal plate" EXACT [] synonym: "absent palatal process of palatine bone" EXACT [] synonym: "absent palatine palatal process" EXACT [] is_a: MP:0004537 ! abnormal palatine shelf morphology [Term] id: MP:0000432 name: abnormal head morphology def: "any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "head abnormalities" BROAD [] is_a: MP:0000428 ! abnormal craniofacial morphology [Term] id: MP:0000433 name: microcephaly alt_id: Fyler:4310 def: "an abnormally small head" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "decreased head size" EXACT [] synonym: "reduced head size" EXACT [] synonym: "small head" EXACT [] is_a: MP:0011496 ! abnormal head size [Term] id: MP:0000434 name: megacephaly alt_id: Fyler:4335 alt_id: MP:0001266 def: "an abnormally large size of the head" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "big head" EXACT [] synonym: "enlarged head" EXACT [] synonym: "increased head size" EXACT [] synonym: "large head" EXACT [] synonym: "macrocephaly" EXACT [] is_a: MP:0011496 ! abnormal head size [Term] id: MP:0000435 name: shortened head def: "reduced anterior-posterior length of the head" [PMID:9256350] subset: Europhenome_Terms synonym: "brachycephaly" RELATED [] is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0000436 name: abnormal head movements alt_id: MP:0001390 def: "any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "abnormal head movement" EXACT [] is_a: MP:0001388 ! abnormal stationary movement [Term] id: MP:0000437 name: taut facial appearance def: "skin of face has appearance of being drawn or pulled tightly" [PMID:10769039] is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0000438 name: abnormal cranium morphology alt_id: Fyler:4134 def: "any structural anomaly of the bones of the head" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal cranium" BROAD [] synonym: "abnormal skull" RELATED [] synonym: "abnormal skull morphology" RELATED [] synonym: "cranial abnormalities" BROAD [] synonym: "cranium dysplasia" EXACT [] synonym: "skull abnormalities" RELATED [] synonym: "skull anomaly" RELATED [] synonym: "skull anomaly, congenital" BROAD [] xref: MA:0000316 is_a: MP:0002116 ! abnormal craniofacial bone morphology [Term] id: MP:0000439 name: enlarged cranium def: "increased size of the cranium" [MGI:csmith] synonym: "enlarged skull" RELATED [] synonym: "increased cranium size" EXACT [] synonym: "increased skull size" RELATED [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0000440 name: domed cranium def: "increased curvature to the hemispherical shape of the upper cranial case" [MGI:csmith] subset: Europhenome_Terms synonym: "dome-shaped skull" EXACT [] synonym: "domed skull" RELATED [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000441 name: increased cranium width def: "having an increased side-to-side, or lateral distance of the cranium" [MGI:csmith] synonym: "increased skull width" RELATED [] synonym: "wide skull" RELATED [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0000443 name: abnormal snout morphology alt_id: MP:0000444 def: "any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:csmith] comment: The term muzzle has multiple meanings and can be ambiguous. It has been added as a broad synonym, and in this case, refers both to the protruding part of the face seen in many animal species. subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal muzzle morphology" BROAD [] synonym: "abnormal nose shape" NARROW [] synonym: "abnormal snout" BROAD [] synonym: "abnormal snout shape" NARROW [] synonym: "snout abnormalities" BROAD [] synonym: "snout dysplasia" BROAD [] synonym: "snout shape abnormalities" NARROW [] is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0000445 name: short snout def: "reduced length of the anterior facial part of the muzzle" [PMID:9949198] subset: Europhenome_Terms subset: Sanger_Terms synonym: "short nose" RELATED [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000446 name: long snout def: "the anterior facial part of the muzzle having a length greater than seen in controls" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "long nose" NARROW [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000447 name: flattened snout def: "a snout flattened laterally along the whole length without the appearance of distinctive curvature" [MGI:csmith] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000448 name: pointed snout def: "muzzle tapers to a small tip, sharper angle than wild type" [PMID:7958926] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000449 name: broad nasal bridge def: "wider than normal upper part of the ridge of the nose" [PMID:9949198] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000450 name: absent snout def: "absence of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:csmith] synonym: "absence of snout" EXACT [] synonym: "absent nose" NARROW [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000451 name: scaly muzzle def: "muzzle covered with shedding scales or flakes" [PMID:10419685] synonym: "scaly snout" EXACT [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000452 name: abnormal mouth morphology alt_id: Fyler:4874 def: "any structural anomaly of the oral cavity" [MGI:cwg] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal oral cavity morphology" RELATED [] synonym: "mouth abnormalities" BROAD [] synonym: "mouth dysplasia" EXACT [] synonym: "mouth malformation" EXACT [] is_a: MP:0003744 ! abnormal orofacial morphology [Term] id: MP:0000453 name: absent mouth def: "absence of the oral cavity" [PMID:8837770] synonym: "absence of mouth" EXACT [] synonym: "astomia" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology [Term] id: MP:0000454 name: abnormal jaw morphology def: "any structural anomaly of the bony framework of the mouth where the teeth are held" [ISBN:0-683-40008-8] synonym: "jaw abnormalities" BROAD [] synonym: "jaw dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000455 name: abnormal maxilla morphology alt_id: MP:0000089 def: "any structural anomaly of the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal upper jaw morphology" EXACT [] synonym: "maxilla dysplasia" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0000457 name: maxilla hypoplasia alt_id: MP:0000092 def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "hypoplasia of maxilla" EXACT [] synonym: "hypoplasia of upper jaw" EXACT [] synonym: "hypoplastic maxilla" EXACT [] synonym: "hypoplastic upper jaw" EXACT [] is_a: MP:0004540 ! small maxilla [Term] id: MP:0000458 name: abnormal mandible morphology alt_id: MP:0000086 def: "any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal lower jaw morphology" EXACT [] synonym: "mandible dysplasia" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0000459 name: abnormal presacral vertebrae morphology def: "any structural anomaly of the vertebrae anterior to the sacrum" [MGI:csmith] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0000460 name: mandible hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "hypognathia" EXACT [] synonym: "hypoplasia of lower jaw" EXACT [] synonym: "hypoplasia of mandible" EXACT [] synonym: "hypoplastic lower jaw" EXACT [] synonym: "hypoplastic mandible" EXACT [] synonym: "mandibular hypoplasia" EXACT [] is_a: MP:0004592 ! small mandible [Term] id: MP:0000461 name: decreased presacral vertebrae number def: "reduced number of the vertebrae anterior to the sacrum" [MGI:csmith] synonym: "decreased number of presacral vertebrae" EXACT [] synonym: "reduced number of presacral vertebrae" EXACT [] synonym: "reduced presacral vertebrae number" EXACT [] is_a: MP:0000459 ! abnormal presacral vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0000462 name: abnormal digestive system morphology alt_id: MP:0000463 alt_id: MP:0002141 def: "any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [ISBN:0-683-40008-8, MGI:cwg] synonym: "digestive system abnormalities" BROAD [] synonym: "digestive system defects" BROAD [] synonym: "digestive system dysplasia" EXACT [] synonym: "digestive system: dysmorphology" EXACT [] xref: MGI:2173601 is_a: MP:0005381 ! digestive/alimentary phenotype [Term] id: MP:0000464 name: increased presacral vertebrae number def: "greater number of the vertebrae anterior to the sacrum" [MGI:csmith] synonym: "increased number of presacral vertebrae" EXACT [] is_a: MP:0000459 ! abnormal presacral vertebrae morphology is_a: MP:0004644 ! increased vertebrae number [Term] id: MP:0000465 name: gastrointestinal hemorrhage def: "bleeding in the stomach and/or the intestines" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "gastroenteric bleeding" EXACT [] synonym: "gastroenteric hemorrhage" EXACT [] synonym: "gastrointestinal bleeding" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001914 ! hemorrhage [Term] id: MP:0000466 name: esophageal epithelium hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the epithelial layer lining the luminal space of the esophagus" [MGI:csmith] synonym: "hyperplasia of the esophageal epithelium" EXACT [] is_a: MP:0000468 ! abnormal esophageal epithelium morphology [Term] id: MP:0000467 name: abnormal esophagus morphology def: "any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach" [ISBN:0-683-40008-8, MGI:tc] synonym: "aesophagus dysplasia" EXACT [] synonym: "esophageal dysplasia" EXACT [] synonym: "esophagus abnormalities" BROAD [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000468 name: abnormal esophageal epithelium morphology def: "any structural anomaly of the epithelial layer that lines the luminal space of the esophagus" [ISBN:0-683-40008-8] synonym: "abnormal esophageal epithelium dysplasia" EXACT [] synonym: "esophageal epithelium abnormalities" BROAD [] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0000469 name: abnormal esophageal squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the esophagus" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "esophageal squamous epithelium dysplasia" EXACT [] is_a: MP:0000468 ! abnormal esophageal epithelium morphology [Term] id: MP:0000470 name: abnormal stomach morphology def: "any structural anomaly of the hollow, sac-like structure of the digestive canal between the esophagus and the small intestine that functions to emulsify food" [ISBN:0-683-40008-8, MGI:csmith] synonym: "stomach abnormalities" BROAD [] synonym: "stomach dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000471 name: abnormal stomach epithelium morphology def: "any structural anomaly of the epithelial layer of the stomach" [MGI:tc] synonym: "stomach epithelium abnormalities" BROAD [] synonym: "stomach epithelium dysplasia" EXACT [] is_a: MP:0010792 ! abnormal stomach mucosa morphology [Term] id: MP:0000472 name: abnormal stomach squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the stomach" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "stomach squamous epithelium dysplasia" EXACT [] is_a: MP:0000471 ! abnormal stomach epithelium morphology [Term] id: MP:0000473 name: abnormal stomach glandular epithelium morphology def: "any structural anomaly of the gland-containing epithelial layer of the stomach" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "stomach glandular epithelium dysplasia" EXACT [] is_a: MP:0000471 ! abnormal stomach epithelium morphology [Term] id: MP:0000474 name: abnormal foregut morphology def: "any structural anomaly of the cephalic portion of the primitive digestive tube of the embryo" [PMID:8837770] synonym: "foregut abnormalities" BROAD [] synonym: "foregut dysplasia" EXACT [] is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0000476 name: thickening of bowel wall def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000477 name: abnormal intestine morphology alt_id: MP:0000475 def: "any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions" [ISBN:0-683-40008-8] synonym: "abnormal bowel morphology" EXACT [] synonym: "abnormal bowel wall morphology" NARROW [] synonym: "bowel wall abnormalities" NARROW [] synonym: "intestinal abnormalities" BROAD [] synonym: "intestinal dysplasia" EXACT [] synonym: "intestine dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000478 name: delayed intestine development def: "slowed progression to a structurally mature intestine" [MGI:cwg] synonym: "developmental retardation of the intestine" EXACT [] is_a: MP:0010158 ! abnormal intestine development [Term] id: MP:0000479 name: abnormal enterocyte morphology def: "any structural anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen" [CL:0000584] synonym: "abnormal enterocytes" BROAD [] synonym: "abnormal intestinal cell morphology" BROAD [] synonym: "abnormal intestinal epithelial cell" EXACT [] synonym: "intestinal cell abnormalities" BROAD [] is_a: MP:0000488 ! abnormal intestinal epithelium morphology [Term] id: MP:0000480 name: increased rib number def: "greater than normal numbers of the pairs of bony structures that are elements of the body wall" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased number of ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000481 name: abnormal enterocyte cell number def: "deviation from the normal numbers of enterocytes" [CL:0000584] synonym: "abnormal enterocyte number" EXACT [] synonym: "abnormal intestinal cell number" RELATED [] is_a: MP:0000479 ! abnormal enterocyte morphology [Term] id: MP:0000482 name: long fibula def: "increased length of the lateral and smaller of bone of the lower leg" [MGI:pvb] is_a: MP:0002187 ! abnormal fibula morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0000483 name: Increased intestinal cell number def: "OBSOLETE." [MGI:csmith] synonym: "increased enterocyte number" EXACT [] is_obsolete: true [Term] id: MP:0000484 name: abnormal pulmonary artery morphology def: "any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs" [MESH:A07.231.114.715, MGI:hdene] subset: CvDC_Terms synonym: "abnormal PA" BROAD [] synonym: "pulmonary arterial abnormality" BROAD [] synonym: "pulmonary artery dysplasia" EXACT [] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0000485 name: Decreased intestinal cell number def: "OBSOLETE." [MGI:csmith] synonym: "decreased enterocyte number" EXACT [] is_obsolete: true [Term] id: MP:0000486 name: abnormal pulmonary trunk morphology def: "any structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery" [ISBN:0-683-40008-8, MGI:hdene] subset: CvDC_Terms synonym: "pulmonary trunk (MPA) abnormality" BROAD [] synonym: "pulmonary trunk dysplasia" EXACT [] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0000487 name: absent enterocytes alt_id: MP:0000347 def: "absence of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen" [CL:0000584] synonym: "absence of enterocytes" EXACT [] synonym: "absence of intestinal cell" BROAD [] synonym: "absent intestinal cell" BROAD [] synonym: "loss of enterocyte" EXACT [] synonym: "loss of intestinal cell" BROAD [] is_a: MP:0000339 ! decreased enterocyte cell number [Term] id: MP:0000488 name: abnormal intestinal epithelium morphology def: "any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus" [ISBN:0-683-40008-8, MGI:cwg] synonym: "intestinal epithelium abnormalities" BROAD [] synonym: "intestinal epithelium dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000489 name: abnormal large intestine morphology def: "any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal" [ISBN:0-683-40008-8] synonym: "abnormal intestinum crassum" EXACT [] synonym: "large intestine abnormalities" BROAD [] synonym: "large intestine dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000490 name: abnormal crypts of Lieberkuhn morphology def: "any structural anomaly of the tubular intestinal glands found in the mucosal membranes" [ISBN:0-683-40008-8] synonym: "abnormal intestinal gland morphology" EXACT [] synonym: "abnormal intestinal glands" BROAD [] synonym: "crypts of Lieberkuhn dysplasia" EXACT [] synonym: "intestinal gland dysplasia" EXACT [] is_a: MP:0000511 ! abnormal intestinal mucosa morphology is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000491 name: crypts of Lieberkuhn abscesses def: "an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis" [ISBN:0-683-40008-8, MGI:csmith] synonym: "crypt abscesses" EXACT [] is_a: MP:0000490 ! abnormal crypts of Lieberkuhn morphology [Term] id: MP:0000492 name: abnormal rectum morphology def: "any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus" [ISBN:0-683-40008-8] synonym: "rectum abnormalities" BROAD [] synonym: "rectum dysplasia" EXACT [] is_a: MP:0000489 ! abnormal large intestine morphology [Term] id: MP:0000493 name: rectal prolapse def: "downward movement and external appearance of the rectum through the anus" [ISBN:0-683-40008-8, MGI:tc] is_a: MP:0000492 ! abnormal rectum morphology [Term] id: MP:0000494 name: abnormal cecum morphology def: "any structural anomaly of the large sac at the ileum and large intestine junction" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal caecum morphology" EXACT [] synonym: "cecum abnormalities" BROAD [] synonym: "cecum dysplasia" EXACT [] is_a: MP:0000489 ! abnormal large intestine morphology [Term] id: MP:0000495 name: abnormal colon morphology def: "any structural anomaly of the portion of the large intestine between the cecum and the rectum" [ISBN:0-683-40008-8, MGI:csmith] synonym: "colon abnormalities" BROAD [] synonym: "colon dysplasia" EXACT [] is_a: MP:0000489 ! abnormal large intestine morphology [Term] id: MP:0000496 name: abnormal small intestine morphology def: "any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum" [ISBN:0-683-40008-8] synonym: "abnormal intestinum tenue" EXACT [] synonym: "small intestine abnormalities" BROAD [] synonym: "small intestine dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000497 name: abnormal small intestine placement def: "different location or arrangement of the small intestinal tract" [PMID:9144284] is_a: MP:0000496 ! abnormal small intestine morphology is_a: MP:0003283 ! abnormal digestive organ placement [Term] id: MP:0000498 name: absent jejunum def: "missing portion of the small intestine that extends from the duodenum to the ileum" [ISBN:0-683-40008-8] synonym: "absence of jejunum" EXACT [] is_a: MP:0004002 ! abnormal jejunum morphology [Term] id: MP:0000499 name: absent ileum def: "missing portion of the small intestine that extends from the jejunum to the colon" [ISBN:0-683-40008-8] synonym: "absence of ileum" EXACT [] is_a: MP:0002581 ! abnormal ileum morphology [Term] id: MP:0000500 name: small intestinal prolapse def: "the descent of the small intestine through a weakness in the supporting tissues at the apex of the vagina gives rise to an enterocele, frequently caused by a weakness or separation of the cardinal and sacro-uterine ligaments" [ISBN:0-683-40008-8, MGI:csmith] synonym: "enterocele" EXACT [] synonym: "small intestine hernia" EXACT [] is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0000501 name: abnormal digestive secretion def: "anomaly in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal secretion" BROAD [] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0000502 name: abnormal digestive mucosecretion def: "OBSOLETE. malfunctioning of the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal mucosecretion" BROAD [] is_obsolete: true [Term] id: MP:0000503 name: excessive digestive secretion def: "increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "excessive secretion" BROAD [] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0000504 name: excessive digestive mucosecretion alt_id: MP:0000514 def: "increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "excessive mucosecretion" BROAD [] is_a: MP:0000503 ! excessive digestive secretion [Term] id: MP:0000505 name: decreased digestive secretion def: "reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "reduced digestive secretion" EXACT [] synonym: "reduced secretion" BROAD [] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0000506 name: decreased digestive mucosecretion alt_id: MP:0000515 def: "reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "reduced digestive mucosecretion" EXACT [] synonym: "reduced mucosecretion" BROAD [] is_a: MP:0000505 ! decreased digestive secretion [Term] id: MP:0000507 name: absent digestive secretion def: "failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "absence of digestive secretion" EXACT [] synonym: "absence of secretion" BROAD [] synonym: "loss of secretion" BROAD [] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0000508 name: right-sided isomerism def: "anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the right side of the body; this may also be associated with absence of the spleen" [MGI:smb] is_a: MP:0004133 ! heterotaxia [Term] id: MP:0000509 name: absent digestive mucosecretion def: "failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system" [ISBN:0-683-40008-8, MGI:tc] synonym: "absence of digestive mucosecretion" EXACT [] synonym: "absence of mucosecretion" BROAD [] synonym: "loss of mucosecretion" BROAD [] is_a: MP:0000507 ! absent digestive secretion [Term] id: MP:0000510 name: remittent intestinal hemorrhage def: "loss of blood from the intestines that is characterized by temporary periods of abatement" [ISBN:0-683-40008-8] synonym: "remittent intestinal bleeding" EXACT [] is_a: MP:0000465 ! gastrointestinal hemorrhage [Term] id: MP:0000511 name: abnormal intestinal mucosa morphology def: "any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells" [ISBN:0-683-40008-8] synonym: "abnormal mucosa of the intestine" BROAD [] synonym: "intestinal mucosa abnormalities" BROAD [] synonym: "intestinal mucosa dysplasia" EXACT [] is_a: MP:0000488 ! abnormal intestinal epithelium morphology [Term] id: MP:0000512 name: intestinal ulcer def: "lesions in the mucous lining of the intestine" [MGI:cwg] synonym: "intestinal ulcers" EXACT [] synonym: "mucosal ulceration of the intestine" EXACT [] is_a: MP:0000511 ! abnormal intestinal mucosa morphology is_a: MP:0003300 ! gastrointestinal ulcer [Term] id: MP:0000513 name: infiltration of lymphocytes/plasma cells def: "OBSOLETE." [MGI:csmith] synonym: "lymphocyte/plasma cell infiltration" EXACT [] is_obsolete: true [Term] id: MP:0000516 name: abnormal renal/urinary system morphology alt_id: MP:0000517 def: "any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism" [MGI:csmith] synonym: "abnormal urinary organs" BROAD [] synonym: "excretory system defects" BROAD [] synonym: "urinary organ abnormalities" BROAD [] synonym: "urinary system dysplasia" EXACT [] is_a: MP:0005367 ! renal/urinary system phenotype [Term] id: MP:0000519 name: hydronephrosis alt_id: Fyler:4502 def: "dilation of the pelvis and calices of one or both kidneys" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "hydropic kidney" EXACT [] synonym: "renal pelvic dilation" EXACT [] is_a: MP:0004194 ! abnormal kidney pelvis morphology [Term] id: MP:0000520 name: absent kidney alt_id: Fyler:4503 def: "absence of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "absence of kidney" EXACT [] synonym: "Agenesis of kidneys" EXACT [] synonym: "bilateral kidney agenesis" EXACT [] synonym: "bilateral renal agenesis" EXACT [] synonym: "kidney agenesis" EXACT [] synonym: "renal agenesis" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0000521 name: abnormal kidney cortex morphology def: "any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal renal cortex morphology" EXACT [] synonym: "kidney cortex dysplasia" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0000522 name: kidney cortex cysts def: "abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts" [ISBN:0-683-40008-8, MGI:anna] synonym: "cysts in kidney cortex" EXACT [] synonym: "renal cortex cysts" EXACT [] synonym: "renal cortical cysts" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0003675 ! kidney cysts [Term] id: MP:0000523 name: cortical renal glomerulopathies def: "any disease of the capillary plexus in the kidney cortex" [ISBN:0-683-40008-8] is_a: MP:0005325 ! abnormal renal glomerulus morphology [Term] id: MP:0000524 name: decreased renal tubule number def: "fewer of the loops of Henle, the proximal convoluted tubules or the distal convoluted tubules" [PMID:9144284] synonym: "reduced number of renal tubules" EXACT [] synonym: "reduced renal tubule number" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0000525 name: renal tubular acidosis def: "a clinical syndrome characterized by the inability to acidify urine" [ISBN:0-683-40008-8] is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0000526 name: small inner medullary pyramid def: "reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules" [ISBN:0-683-40008-8, PMID:9144284] is_a: MP:0004192 ! abnormal kidney pyramid morphology is_a: MP:0011333 ! abnormal kidney inner medulla morphology [Term] id: MP:0000527 name: abnormal kidney development def: "any anomaly in the differentiation of the paired organs responsible for urine secretion" [MGI:cwg] synonym: "abnormal nephrogenesis" EXACT [] synonym: "abnormal renal development" EXACT [] synonym: "kidney development abnormalities" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology is_a: MP:0003942 ! abnormal urinary system development [Term] id: MP:0000528 name: delayed kidney development alt_id: MP:0000529 def: "late onset of the induction and/or differentiation of the kidney" [PMID:7926784] synonym: "delayed renal development" EXACT [] synonym: "developmental retardation of kidney" EXACT [] is_a: MP:0000527 ! abnormal kidney development [Term] id: MP:0000530 name: abnormal kidney blood vessel morphology def: "any structural anomaly of the network of tubes that carries blood through the organ of excretion" [ISBN:0-683-40008-8] synonym: "abnormal kidney vasculature morphology" EXACT [] synonym: "abnormal renal vasculature morphology" EXACT [] synonym: "kidney vasculature abnormalities" BROAD [] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0000531 name: right pulmonary isomerism def: "anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body" [MGI:anna] is_a: MP:0000508 ! right-sided isomerism is_a: MP:0009569 ! abnormal left lung morphology is_a: MP:0010853 ! abnormal lung position or orientation [Term] id: MP:0000532 name: kidney vascular congestion alt_id: MP:0000257 def: "obstruction of the normal flux of blood within the blood vessel network of the organ of secretion" [ISBN:0-683-40008-8, MGI:tc] synonym: "congested kidney vasculature" EXACT [] is_a: MP:0000530 ! abnormal kidney blood vessel morphology is_a: MP:0010017 ! visceral vascular congestion [Term] id: MP:0000533 name: kidney hemorrhage def: "bleeding in the organ of excretion" [ISBN:0-683-40008-8, MGI:tc] synonym: "kidney bleeding" EXACT [] synonym: "renal hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0000534 name: abnormal ureter morphology def: "any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder" [ISBN:0-683-40008-8] synonym: "ureter abnormalities" BROAD [] synonym: "ureter dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0000535 name: ureter urothelium hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells, of the luminal epithelium of the tube that conducts the urine from the renal pelvis to the bladder" [MGI:csmith] synonym: "hyperplasia of the luminal epithelium of ureter" EXACT [] synonym: "hyperplastic ureter urothelium" EXACT [] synonym: "luminal epithelium of ureter hyperplasia" EXACT [] is_a: MP:0011484 ! abnormal ureter urothelium morphology [Term] id: MP:0000536 name: hydroureter def: "distention of the ureter with urine, due to blockage from any cause" [ISBN:0-683-40008-8, MGI:cml] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0000537 name: abnormal urethra morphology def: "any structural anomaly of the canal leading from the bladder, discharging the urine externally" [ISBN:0-683-40008-8] synonym: "urethra abnormalities" BROAD [] synonym: "urethra dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0000538 name: abnormal urinary bladder morphology def: "any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys" [ISBN:0-683-40008-8] synonym: "abnormal cystis urinaria morphology" EXACT [] synonym: "abnormal urocyst morphology" EXACT [] synonym: "abnormal urocystis morphology" EXACT [] synonym: "abnormal vesica morphology" EXACT [] synonym: "abnormal vesica urinaria morphology" EXACT [] synonym: "urinary bladder dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0000539 name: distended urinary bladder def: "stretched musculomembranous organ that serves to collect and store urine excreted by the kidneys" [ISBN:0-683-40008-8] synonym: "urinary bladder distension" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0000540 name: abnormal urinary bladder urothelium morphology def: "any structural anomaly of the epithelial lining of the luminal space of the urinary bladder" [MGI:tc] synonym: "abnormal urinary bladder epithelium morphology" EXACT [] synonym: "urinary bladder epithelium dysplasia" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology is_a: MP:0003630 ! abnormal urothelium morphology [Term] id: MP:0000541 name: abnormal urinary bladder transitional epithelium morphology def: "any structural anomaly of the transitional epithelial layer of the urinary bladder" [MGI:tc] synonym: "urinary bladder transitional epithelium dysplasia" EXACT [] is_a: MP:0000540 ! abnormal urinary bladder urothelium morphology [Term] id: MP:0000542 name: left-sided isomerism def: "anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the left side of the body; this may also be associated with the presence of multiple spleens" [MGI:smb] is_a: MP:0004133 ! heterotaxia [Term] id: MP:0000543 name: absent urinary bladder transitional epithelium def: "missing the transitional epithelial layer of the urinary bladder" [MGI:tc, PMID:10227294] synonym: "absence of urinary bladder transitional epithelium" EXACT [] synonym: "loss of urinary bladder transitional epithelium" BROAD [] is_a: MP:0000541 ! abnormal urinary bladder transitional epithelium morphology [Term] id: MP:0000544 name: thin urinary bladder transitional epithelium def: "decrease in the thickness of the transitional epithelial layer of the urinary bladder" [MGI:tc, PMID:10227294] is_a: MP:0000541 ! abnormal urinary bladder transitional epithelium morphology [Term] id: MP:0000545 name: abnormal limbs/digits/tail morphology def: "OBSOLETE. morphological or developmental anomaly of the digits, autopod, limbs, or tail" [MGI:cwg] synonym: "abnormal extremities" BROAD [] synonym: "abnormal extremity morphology" EXACT [] synonym: "extremities abnormalities" BROAD [] synonym: "extremities defects" BROAD [] synonym: "extremities dysplasia" EXACT [] synonym: "extremity dysplasia" EXACT [] synonym: "limbs/digits/tail dysplasia" EXACT [] is_obsolete: true [Term] id: MP:0000547 name: short limbs alt_id: MP:0002542 def: "reduced average length of the extremities" [MGI:csmith, PMID:10742104] subset: Sanger_Terms synonym: "brachymelia" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000548 name: long limbs def: "increased average length of the extremities" [MGI:tc] subset: Sanger_Terms is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000549 name: absent limbs def: "missing extremities" [J:50768, J:51966] synonym: "absence of limbs" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000550 name: abnormal forelimb morphology def: "any structural anomaly of the entire anterior extremity" [MGI:tc] subset: Europhenome_Terms subset: Sanger_Terms synonym: "forelimb abnormalities" BROAD [] synonym: "forelimb dysplasia" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000551 name: absent forelimb def: "missing the entire anterior extremities" [MGI:tc, PMID:10227294] subset: Sanger_Terms synonym: "absence of forelimb" EXACT [] is_a: MP:0000549 ! absent limbs is_a: MP:0000550 ! abnormal forelimb morphology [Term] id: MP:0000552 name: abnormal radius morphology def: "any structural anomaly of the short bone of the lateral forearm" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "radius dysplasia" EXACT [] is_a: MP:0003855 ! abnormal forelimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0000553 name: absent radius def: "missing the short bone of the lateral forearm" [ISBN:0-683-40008-8, PMID:10227294] synonym: "absence of radius" EXACT [] is_a: MP:0000552 ! abnormal radius morphology [Term] id: MP:0000554 name: abnormal carpal bone morphology def: "any structural anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids" [ISBN:0-683-40008-8, ISBN-13:978-0028454405] comment: Note that the bony structure of the human and rodent carpals are different. synonym: "abnormal carpal bone" BROAD [] synonym: "abnormal carpus" BROAD [] synonym: "carpal bone dysplasia" EXACT [] synonym: "carpus dysplasia" EXACT [] is_a: MP:0002115 ! abnormal limb bone morphology [Term] id: MP:0000555 name: absent carpal bone def: "absence of any or all of the nine nodular bones of the joint between the forelimb bones and the front paws/hands, consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids" [ISBN:0-683-40008-8, ISBN-13:978-0028454405] comment: Note that the bony structure of the human and rodent carpals are different. synonym: "absence of carpal bone" EXACT [] synonym: "absent carpus" EXACT [] is_a: MP:0000554 ! abnormal carpal bone morphology [Term] id: MP:0000556 name: abnormal hindlimb morphology def: "any structural anomaly of the entire posterior extremity" [MGI:tc] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hindlimb abnormalities" BROAD [] synonym: "hindlimb dysplasia" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000557 name: absent hindlimb def: "missing the entire posterior extremities" [MGI:tc, PMID:10227294] synonym: "absence of hindlimb" EXACT [] is_a: MP:0000549 ! absent limbs is_a: MP:0000556 ! abnormal hindlimb morphology [Term] id: MP:0000558 name: abnormal tibia morphology def: "any structural anomaly of the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "tibia dysplasia" EXACT [] is_a: MP:0003857 ! abnormal hindlimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0000559 name: abnormal femur morphology def: "any structural anomaly of the long bone of the thigh" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "femur dysplasia" EXACT [] is_a: MP:0003856 ! abnormal hindlimb stylopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0000561 name: adactyly alt_id: Fyler:4173 def: "missing one or more digits, or all digits" [MGI:tc, PMID:10227294] comment: There is ambiguity in the literature regarding the meaning of the term adactyly. Some sources define this as missing all digits and other sources list the definition as missing all or one or more digits. In this ontology, we are using the latter, more inclusive definition, even though this may confound the usage of the term oligodactyly MP:0000565. subset: CvDC_Terms subset: Europhenome_Terms synonym: "absence of digits" EXACT [] synonym: "absent fingers" NARROW [] synonym: "absent toes" NARROW [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000562 name: polydactyly alt_id: Fyler:4103 def: "greater than the normal complement of digits on one or more autopods" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "extra fingers" NARROW [] synonym: "extra toes" NARROW [] synonym: "hyperdactyly" EXACT [] synonym: "polydactylia" EXACT [] synonym: "polydactylism" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000564 name: syndactyly alt_id: Fyler:4174 def: "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "fused fingers" NARROW [] synonym: "fused toes" NARROW [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000565 name: oligodactyly alt_id: MP:0000563 def: "congenital condition in which some digits or parts of digits are missing" [ISBN:0-683-40008-8, PMID:9949198] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypodactyly" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000566 name: synostosis def: "osseous union of two bones that are not normally connected" [J:13049] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0000567 name: truncation of digits def: "absence of the most distal region of the digits" [PMID:7925010] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000568 name: ectopic digits def: "positional abnormality of a digit" [PMID:9778510] synonym: "heterotopic digits" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000569 name: abnormal digit pigmentation alt_id: MP:0000570 def: "anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:cwg, MGI:llw2] synonym: "altered digit pigmentation" EXACT [] synonym: "white hind toes" NARROW [] is_a: MP:0001186 ! pigmentation phenotype is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000571 name: interdigital webbing def: "fold of skin, or web, between the toes that is not normally present" [ISBN:0-683-40008-8, PMID:9753320] is_a: MP:0000564 ! syndactyly [Term] id: MP:0000572 name: abnormal autopod morphology alt_id: Fyler:4170 alt_id: MP:0004271 def: "any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits)" [MGI:csmith, PMID:12560810] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal foot morphology" NARROW [] synonym: "abnormal hand morphology" NARROW [] synonym: "abnormal paw morphology" NARROW [] synonym: "abnormal paw/hand/foot morphology" EXACT [] synonym: "abnormal paws" NARROW [] synonym: "hand and/or foot anomaly" BROAD [] synonym: "paw abnormalities" NARROW [] synonym: "paw/hand/foot dysplasia" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000573 name: enlarged hind paws def: "larger than average size of the rear feet" [J:51296] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000574 name: abnormal foot pad morphology def: "any structural anomaly of the body of fat on the foot" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal foot pads" BROAD [] synonym: "foot pad dysplasia" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000575 name: dark foot pads def: "darker color of the foot pads due to excess pigment" [MGI:cml] subset: Sanger_Terms synonym: "foot pad hyperpigmentation" EXACT [] synonym: "increased foot pad pigmentation" EXACT [] is_a: MP:0000574 ! abnormal foot pad morphology is_a: MP:0001188 ! hyperpigmentation is_a: MP:0009379 ! abnormal foot pigmentation [Term] id: MP:0000576 name: clubfoot alt_id: Fyler:4171 def: "congenital deformation of the feet; foot is plantarflexed, inverted and adducted" [ISBN:0-683-40008-8, PMID:10709991] subset: CvDC_Terms synonym: "club foot" EXACT [] synonym: "clubbed feet" EXACT [] synonym: "talipes equino varus" EXACT [] synonym: "talipes equinovarus" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000577 name: absent palmar eccrine glands alt_id: MP:0000677 def: "missing sweat glands of the palm" [PMID:9778510] synonym: "absence of palmar eccrine glands" EXACT [] synonym: "absent palmar sweat glands" RELATED [] synonym: "loss of palmar eccrine glands" EXACT [] is_a: MP:0000675 ! abnormal palmar eccrine gland morphology [Term] id: MP:0000578 name: ulcerated paws def: "inflammatory, often suppurating lesions on the paws; often become necrotic" [J:17194] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000579 name: abnormal nail morphology def: "any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "abnormal claw morphology" RELATED [] synonym: "abnormal nails" BROAD [] synonym: "nail abnormalities" BROAD [] synonym: "nail dysplasia" EXACT [] is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000580 name: deformed nails def: "atypical shape or size of the nails" [PMID:9420327] subset: Europhenome_Terms synonym: "deformed claw" RELATED [] is_a: MP:0000579 ! abnormal nail morphology [Term] id: MP:0000581 name: ventral nails/ hair def: "OBSOLETE. appearance of nails and hair on the ventral side of the paw" [PMID:9778510] is_obsolete: true [Term] id: MP:0000582 name: toenail hyperkeratosis def: "keratin extensions from the toenails" [J:62478] is_a: MP:0000579 ! abnormal nail morphology [Term] id: MP:0000583 name: long toenails def: "increased length of the toenails" [PMID:1709129] subset: Europhenome_Terms is_a: MP:0000579 ! abnormal nail morphology [Term] id: MP:0000585 name: kinked tail alt_id: MP:0000586 alt_id: MP:0000591 def: "a sharp bend or zigzag in the tail" [PMID:10709991] subset: Europhenome_Terms subset: Sanger_Terms synonym: "crooked tail" EXACT [] synonym: "kinky tail" EXACT [] synonym: "tail kinks" EXACT [] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000588 name: thick tail def: "a tail with a greater diameter than normal" [MGI:cwg] subset: Europhenome_Terms is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000589 name: thin tail def: "a tail with a smaller diameter than normal" [MGI:cwg] subset: Europhenome_Terms is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000592 name: short tail alt_id: MP:0000587 def: "reduced length of tail compared to control" [PMID:10572046] subset: Europhenome_Terms subset: Sanger_Terms synonym: "stubbed tail" EXACT [] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000593 name: tail band def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000596 name: abnormal liver development def: "any anomaly in the differentiation of the liver" [MGI:cwg] synonym: "abnormal hepatic development" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0003943 ! abnormal hepatobiliary system development [Term] id: MP:0000597 name: delayed hepatic development def: "late onset of the induction and/or differentiation of the liver" [PMID:7926784] is_a: MP:0000596 ! abnormal liver development [Term] id: MP:0000598 name: abnormal liver morphology alt_id: Fyler:4447 alt_id: MP:0000595 def: "any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "abnormal hepatic morphology" EXACT [] synonym: "abnormal liver" BROAD [] synonym: "liver dysplasia" EXACT [] is_a: MP:0002138 ! abnormal hepatobiliary system morphology [Term] id: MP:0000599 name: enlarged liver def: "larger than average size of the liver" [PMID:8941642] synonym: "hepatomegaly" EXACT [] is_a: MP:0004848 ! abnormal liver size [Term] id: MP:0000600 name: liver hypoplasia def: "underdevelopment or reduced size of the liver, usually due to a reduced number of cells," [J:57631] synonym: "hepatic hypoplasia" RELATED [] synonym: "hypoplastic liver" EXACT [] is_a: MP:0000601 ! small liver [Term] id: MP:0000601 name: small liver def: "reduced size of the liver" [PMID:7854452] is_a: MP:0004848 ! abnormal liver size [Term] id: MP:0000602 name: enlarged liver sinusoidal spaces def: "larger than normal sized blood-filled cavities in the liver" [PMID:7854452] synonym: "enlarged hepatic sinusoidal spaces" EXACT [] synonym: "enlarged sinusoidal spaces" BROAD [] is_a: MP:0008989 ! abnormal liver sinusoid morphology [Term] id: MP:0000603 name: pale liver def: "liver lacking normal coloration, often refers to bloodless condition" [PMID:7926784] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0000604 name: amyloidosis alt_id: MP:0000695 def: "an accumulation of extracellular amyloid in tissues of the body" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002168 ! other aberrant phenotype [Term] id: MP:0000606 name: decreased hepatocyte number def: "fewer than normal number of parenchymal liver cells" [PMID:7854452] synonym: "reduced hepatocyte cell number" EXACT [] is_a: MP:0000607 ! abnormal hepatocyte morphology [Term] id: MP:0000607 name: abnormal hepatocyte morphology alt_id: MP:0000605 alt_id: MP:0002821 def: "any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules" [MESH:A11.436.348, PMID:7854452] synonym: "abnormal hepatocytes" BROAD [] synonym: "abnormal liver cells" BROAD [] is_a: MP:0008987 ! abnormal liver lobule morphology [Term] id: MP:0000608 name: dissociated hepatocytes def: "disorganization of cohesive hepatocyte structure" [PMID:7854452] synonym: "dissociation of liver parenchymal cells" EXACT [] is_a: MP:0000607 ! abnormal hepatocyte morphology [Term] id: MP:0000609 name: abnormal liver physiology def: "any functional anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage" [ISBN:0-683-40008-8] synonym: "abnormal hepatic function" EXACT [] synonym: "abnormal hepatic physiology" EXACT [] synonym: "abnormal liver function" EXACT [] is_a: MP:0002139 ! abnormal hepatobiliary system physiology [Term] id: MP:0000610 name: cholestasis def: "impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis)" [MESH:C06.130.120.135] synonym: "bile duct obstruction" EXACT [] synonym: "bile stasis" EXACT [] synonym: "biliary stasis" EXACT [] is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0000611 name: jaundice def: "clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes" [MESH:C23.550.429.500] synonym: "icterus" EXACT [] is_a: MP:0000609 ! abnormal liver physiology [Term] id: MP:0000612 name: sclerosis def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000613 name: abnormal salivary gland morphology def: "any structural anomaly of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, PMID:10906459] synonym: "abnormal salivary glands" BROAD [] synonym: "salivary gland dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000614 name: absent salivary gland def: "missing any of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "absence of salivary glands" EXACT [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000615 name: abnormal palatine gland morphology def: "any structural anomaly of the salivary gland of the hard palate" [ISBN:0-683-40008-8, PMID:11002344] synonym: "abnormal glandulae palatinae morphology" EXACT [] synonym: "palatine gland dysplasia" EXACT [] is_a: MP:0003791 ! abnormal minor salivary gland morphology [Term] id: MP:0000616 name: decreased ductal branching in the palatine gland def: "fewer branches and distal tips of the vesicles of the palatine gland" [PMID:11002344] synonym: "reduced ductal branching in the palatine gland" EXACT [] is_a: MP:0000615 ! abnormal palatine gland morphology is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0000617 name: increased salivary gland mucosal cell number def: "greater than normal number of cells that form mucus in the salivary glands" [PMID:11002344] synonym: "increased number of salivary gland mucosal cells" EXACT [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000618 name: small salivary gland def: "reduced size of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, PMID:10906459] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000619 name: salivary gland epithelial hyperplasia def: "increased cell number in the epithelium of the salivary gland" [ISBN:0-683-40008-8, PMID:10906459] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000620 name: narrow salivary ducts def: "reduced diameter of the tubular canals that carry saliva" [ISBN:0-683-40008-8, PMID:10906459] is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0000621 name: salivary adenocarcinoma alt_id: MP:0002040 def: "malignant neoplasm of the secreting cells of the salivary gland" [ISBN:0-683-40008-8] synonym: "acinar carcinoma" EXACT [] synonym: "acinic cell adenocarcinoma" EXACT [] synonym: "acinic cell carcinoma" EXACT [] synonym: "Salivary Adenocarcinomas" EXACT [] is_a: MP:0009308 ! adenocarcinoma is_a: MP:0010318 ! increased salivary gland tumor incidence [Term] id: MP:0000622 name: increased salivation def: "greater than normal amounts of flowing saliva" [ISBN:0-683-40008-8] synonym: "excess salivation" EXACT [] synonym: "hygrostomia" EXACT [] synonym: "hypersalivation" EXACT [] synonym: "ptyalism" EXACT [] synonym: "sialism" EXACT [] synonym: "sialismus" EXACT [] synonym: "sialorrhea" EXACT [] synonym: "sialosis" EXACT [] is_a: MP:0005310 ! abnormal salivary gland physiology [Term] id: MP:0000623 name: decreased salivation def: "reduction in the flow, secretion, or amount of saliva" [MGI:cwg] synonym: "reduced salivation" EXACT [] synonym: "sialoschesis" EXACT [] is_a: MP:0005310 ! abnormal salivary gland physiology [Term] id: MP:0000624 name: xerostomia def: "dryness of the mouth resulting from reduced salivary secretion" [ISBN:0-683-40008-8, MGI:csmith] synonym: "dry mouth" EXACT [] is_a: MP:0000623 ! decreased salivation is_a: MP:0003745 ! abnormal mucosal lining of the mouth [Term] id: MP:0000627 name: abnormal mammary gland morphology def: "any structural anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast" [ISBN:0-683-40008-8] synonym: "abnormal mammary glands" BROAD [] synonym: "mammary gland dysplasia" EXACT [] is_a: MP:0001119 ! abnormal female reproductive system morphology is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000628 name: abnormal mammary gland development alt_id: MP:0003428 def: "aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity" [ISBN:0-683-40008-8] synonym: "abnormal mammary development" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0000629 name: absent mammary gland def: "missing milk-secreting glands of the breast" [PMID:7958926] synonym: "absence of mammary glands" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology is_a: MP:0009720 ! abnormal mammary gland pattern [Term] id: MP:0000630 name: mammary gland hyperplasia def: "overdevelopment or increased size of the mammary gland, usually due an increased number of cells" [J:63229] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0000631 name: abnormal neuroendocrine gland morphology def: "any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli" [ISBN:0-683-40008-8] synonym: "abnormal neuroendocrine glands" BROAD [] synonym: "neuroendocrine gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000632 name: abnormal pineal gland morphology def: "any structural anomaly of the small, flattened body located in the depression between the superior colliculi and which produces melatonin" [ISBN:0-683-40008-8] synonym: "abnormal corpus pineale morphology" EXACT [] synonym: "abnormal epiphysis cerebri morphology" EXACT [] synonym: "abnormal glandula pinealis morphology" EXACT [] synonym: "abnormal pineal body morphology" EXACT [] synonym: "abnormal pineal glands" BROAD [] synonym: "pineal gland dysplasia" EXACT [] is_a: MP:0000631 ! abnormal neuroendocrine gland morphology is_a: MP:0000840 ! abnormal epithalamus morphology [Term] id: MP:0000633 name: abnormal pituitary gland morphology def: "any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe" [ISBN:0-683-40008-8] synonym: "abnormal hypophysis morphology" EXACT [] synonym: "abnormal pituitary glands" BROAD [] synonym: "abnormal pituitary morphology" EXACT [] synonym: "pituitary gland dysplasia" EXACT [] is_a: MP:0000631 ! abnormal neuroendocrine gland morphology is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000635 name: pituitary gland hyperplasia alt_id: MP:0000634 def: "overdevelopment or increased size, usually due to increased cell number, of the pituitary gland" [ISBN:0-683-40008-8, J:63229] synonym: "hyperplastic pituitary gland" EXACT [] synonym: "pituitary hyperplasia" EXACT [] is_a: MP:0000636 ! enlarged pituitary gland [Term] id: MP:0000636 name: enlarged pituitary gland def: "increased size of pituitary gland" [PMID:9744866] is_a: MP:0008936 ! abnormal pituitary gland size [Term] id: MP:0000637 name: abnormal merkel cells def: "OBSOLETE." [MGI:csmith] is_obsolete: true replaced_by: MP:0000985 [Term] id: MP:0000638 name: hyperproliferation of merkel cells def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0000986 [Term] id: MP:0000639 name: abnormal adrenal gland morphology def: "any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla" [ISBN:0-683-40008-8] synonym: "abnormal adrenal body morphology" EXACT [] synonym: "abnormal adrenal capsule morphology" EXACT [] synonym: "abnormal adrenal glands" BROAD [] synonym: "abnormal adrenal morphology" EXACT [] synonym: "abnormal suprarenal body morphology" EXACT [] synonym: "abnormal suprarenal capsule morphology" EXACT [] synonym: "abnormal suprarenal gland morphology" EXACT [] synonym: "adrenal gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000640 name: adrenal gland hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the endocrine glands located above the kidney and responsible for hormone and epinephrine secretion" [ISBN:0-683-40008-8] synonym: "adrenal hypoplasia" EXACT [] synonym: "hypoplastic adrenal gland" EXACT [] is_a: MP:0002768 ! small adrenal glands [Term] id: MP:0000642 name: enlarged adrenal glands alt_id: MP:0000641 def: "increased size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla" [ISBN:0-683-40008-8] synonym: "increased adrenal gland size" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0000643 name: absent adrenal medulla def: "absence of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine" [ISBN:0-683-40008-8, MGI:llw2] synonym: "absent adrenal gland medulla" EXACT [] synonym: "absent central medulla" NARROW [] synonym: "absent suprarenal gland medulla" EXACT [] is_a: MP:0008289 ! abnormal adrenal medulla morphology [Term] id: MP:0000644 name: dextrocardia alt_id: Fyler:0110 alt_id: Fyler:110 def: "congenital defect in which the heart is located on the right side of the thorax instead of on the left side (levocardia, the normal position)" [MESH:C14.240.400.280, MGI:anna] subset: CvDC_Terms is_a: MP:0006065 ! abnormal heart position or orientation [Term] id: MP:0000645 name: absent adrenergic chromaffin cells def: "absence of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion" [ISBN:0-683-40008-8, MGI:csmith, PMID:10357937] synonym: "absence of adrenergic chromaffin cells" EXACT [] synonym: "loss of adrenergic chromaffin cells" EXACT [] is_a: MP:0003834 ! abnormal adrenergic chromaffin cell morphology [Term] id: MP:0000646 name: enlarged adrenocortical cells def: "larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland" [ISBN:0-683-40008-8, PMID:10357937] synonym: "adrenocortical cell hypertrophy" RELATED [] synonym: "enlarged cortical cells" BROAD [] is_a: MP:0008291 ! abnormal adrenocortical cell morphology [Term] id: MP:0000647 name: abnormal sebaceous gland morphology alt_id: MP:0001226 def: "any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts" [MGI:tc] synonym: "sebaceous gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000648 name: absent sebaceous gland alt_id: MP:0001227 def: "missing the holocrine glands of the dermis that secrete sebum into the hair follicles" [MGI:tc, PMID:10227294] synonym: "absence of sebaceous glands" EXACT [] synonym: "loss of sebaceous glands" BROAD [] is_a: MP:0000647 ! abnormal sebaceous gland morphology [Term] id: MP:0000649 name: sebaceous gland atrophy alt_id: MP:0001228 def: "acquired diminution of the size of the holocrine glands of the dermis that secrete sebum into the hair follicles, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith, PMID:8941642] synonym: "atrophic sebaceous gland" EXACT [] is_a: MP:0000647 ! abnormal sebaceous gland morphology [Term] id: MP:0000650 name: mesocardia alt_id: Fyler:0140 alt_id: Fyler:140 def: "congenital defect in which the heart is located in the middle of the thorax instead of on the left side (levocardia, the normal position)" [MGI:anna] subset: CvDC_Terms is_a: MP:0006065 ! abnormal heart position or orientation [Term] id: MP:0000652 name: enlarged sebaceous gland alt_id: MP:0001229 def: "increased size of the sebum secreting glands of the hair shaft" [MGI:csmith] subset: Sanger_Terms synonym: "increased sebaceous gland size" EXACT [] is_a: MP:0000647 ! abnormal sebaceous gland morphology [Term] id: MP:0000653 name: abnormal sex gland morphology def: "any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction" [MGI:cwg] synonym: "abnormal sex glands" BROAD [] synonym: "sex gland dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000654 name: absent sex gland def: "missing any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction" [ISBN:0-683-40008-8] synonym: "absence of sex glands" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology [Term] id: MP:0000655 name: dilated sex gland alt_id: MP:0001118 def: "stretched appearance or excessive fluid in of any of the sex glands" [J:62478] synonym: "dilation of sex glands" EXACT [] synonym: "sex gland dilation" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology [Term] id: MP:0000659 name: prostate gland hyperplasia alt_id: MP:0001160 def: "overdevelopment or increased size, usually due an increased number of cells in the prostate" [ISBN:0-683-40008-8, PMID:10906459] synonym: "hyperplastic prostate gland" EXACT [] is_a: MP:0004958 ! enlarged prostate gland [Term] id: MP:0000660 name: lateral prostate gland hypoplasia alt_id: MP:0001161 def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the lateral lobe of the prostate" [ISBN:0-683-40008-8, PMID:10906459] synonym: "hypoplastic lateral prostate" EXACT [] synonym: "lateral prostate hypoplasia" EXACT [] is_a: MP:0005147 ! prostate gland hypoplasia [Term] id: MP:0000661 name: small prostate gland ventral lobe alt_id: MP:0001162 def: "reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck" [PMID:10906459, PMID:12645922, PMID:3308446] synonym: "small ventral prostate gland" EXACT [] synonym: "small VP" EXACT [] is_a: MP:0002774 ! small prostate gland is_a: MP:0009380 ! abnormal prostate gland ventral lobe morphology [Term] id: MP:0000662 name: abnormal branching of the mammary ductal tree def: "anomaly in the development of the channels that secrete milk and direct milk to the nipple" [MGI:smb] is_a: MP:0000628 ! abnormal mammary gland development is_a: MP:0009503 ! abnormal mammary gland duct morphology [Term] id: MP:0000664 name: small prostate gland anterior lobe alt_id: MP:0001164 def: "reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles" [PMID:11002344, PMID:12645922, PMID:3308446] synonym: "small AP" EXACT [] synonym: "small coagulating gland" EXACT [] is_a: MP:0001163 ! abnormal prostate gland anterior lobe morphology [Term] id: MP:0000665 name: decreased ductal branching in the coagulating gland alt_id: MP:0001165 def: "fewer branches and distal tips of the vesicles of the coagulating gland" [PMID:11002344] synonym: "decreased ductal branching, coagulating gland" EXACT [] synonym: "reduced ductal branching in the coagulating gland" EXACT [] is_a: MP:0009736 ! abnormal prostate gland branching morphogenesis [Term] id: MP:0000666 name: decreased prostate gland duct number alt_id: MP:0001166 def: "fewer than normal minute canals that pass the prostatic secretions to the urethra" [ISBN:0-683-40008-8, PMID:10906459] synonym: "decreased number of prostate ducts" EXACT [] synonym: "decreased prostate duct number" EXACT [] synonym: "reduced number of prostate ducts" EXACT [] synonym: "reduced prostate duct number" EXACT [] is_a: MP:0009734 ! abnormal prostate gland duct morphology [Term] id: MP:0000671 name: bulbourethral gland hypoplasia alt_id: MP:0001171 def: "underdevelopment or reduced size, usually due to a reduced cell number, of the bulbourethral gland" [ISBN:0-683-40008-8, PMID:10215624] synonym: "Cowper's gland hypoplasia" EXACT [] synonym: "hypoplastic bulbourethral gland" EXACT [] synonym: "reduced bulbourethral gland cellularity" EXACT [] is_a: MP:0001169 ! abnormal bulbourethral gland morphology [Term] id: MP:0000672 name: decreased mucin cell number alt_id: MP:0001172 def: "OBSOLETE. fewer than normal number of cells that secrete fluid containing carbohydrate-rich glycoproteins" [ISBN:0-683-40008-8] synonym: "reduced mucin cell number" EXACT [] synonym: "reduced number of mucin cells" EXACT [] is_obsolete: true [Term] id: MP:0000674 name: abnormal sweat gland morphology def: "any structural anomaly of any of the coil glands of the skin that secrete sweat" [ISBN:0-683-40008-8] synonym: "abnormal sweat glands" BROAD [] synonym: "sweat gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000675 name: abnormal palmar eccrine gland morphology def: "any structural anomaly of the sweat glands of the palm; in mice these are the only sweat glands present" [MGI:csmith] synonym: "abnormal palmar eccrine glands" BROAD [] synonym: "abnormal palmar sweat gland morphology" EXACT [] synonym: "abnormal palmar sweat glands" BROAD [] synonym: "palmar eccrine gland dysplasia" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology is_a: MP:0000674 ! abnormal sweat gland morphology [Term] id: MP:0000676 name: abnormal water content def: "more or less than the normal total amount of water retained in the body" [MGI:il] is_a: MP:0005451 ! abnormal body composition [Term] id: MP:0000678 name: abnormal parathyroid gland morphology alt_id: MP:0001735 def: "any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [ISBN:0-683-40008-8] synonym: "abnormal parathyroid glands" BROAD [] synonym: "parathyroid gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000679 name: increased percent water in carcass def: "more than the normal total amount of water retained in the body measured post mortem" [MGI:il] is_a: MP:0000676 ! abnormal water content [Term] id: MP:0000680 name: absent parathyroid glands alt_id: MP:0001736 def: "missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH)" [ISBN:0-683-40008-8] synonym: "absence of parathyroid glands" EXACT [] synonym: "loss of parathyroid glands" EXACT [] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0000681 name: abnormal thyroid gland morphology alt_id: MP:0001737 alt_id: MP:0003500 def: "any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin" [ISBN:0-683-40008-8] synonym: "abnormal thyroid glands" BROAD [] synonym: "abnormal thyroid morphology" EXACT [] synonym: "thyroid dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000683 name: decreased percent water in carcass def: "less than the normal total amount of water retained in the body measured post mortem" [MGI:il] synonym: "reduced percent water in carcass" EXACT [] is_a: MP:0000676 ! abnormal water content [Term] id: MP:0000685 name: abnormal immune system morphology def: "any structural anomaly in the organs or cells associated with the development and formation of lymphocytes" [MGI:cwg] synonym: "immune system abnormalities" BROAD [] synonym: "immune system dysplasia" EXACT [] synonym: "lymphoid system abnormalities" BROAD [] synonym: "lymphopoietic system abnormalities" BROAD [] is_a: MP:0005387 ! immune system phenotype [Term] id: MP:0000687 name: small lymphoid organs def: "reduced size of lymphatic tissues" [ISBN:0-683-40008-8, J:34193] is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0000688 name: lymphoid hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, in lymphatic tissues" [J:62478] synonym: "increased lymphoid tissue cellularity" EXACT [] synonym: "lymph organ hyperplasia" EXACT [] is_a: MP:0002220 ! large lymphoid organs is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0000689 name: abnormal spleen morphology alt_id: MP:0002226 def: "any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets" [ISBN:0-683-40008-8] synonym: "abnormal spleen structure" EXACT [] synonym: "abnormal splenic morphology" EXACT [] synonym: "spleen abnormalities" BROAD [] synonym: "spleen dysplasia" EXACT [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0000690 name: absent spleen alt_id: Fyler:4771 def: "missing organ that functions to filter blood and to store red corpuscles and platelets" [ISBN:0-683-40008-8, PMID:10572046] subset: CvDC_Terms synonym: "absence of spleen" EXACT [] synonym: "asplenia" EXACT [] synonym: "splenic agenesis" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0000691 name: enlarged spleen def: "increased spleen size" [MGI:cwg] synonym: "increased spleen size" EXACT [] synonym: "megosplenia" EXACT [] synonym: "splenomegalia" EXACT [] synonym: "splenomegaly" EXACT [] is_a: MP:0002224 ! abnormal spleen size [Term] id: MP:0000692 name: small spleen def: "decreased spleen size" [MGI:cwg] synonym: "decreased spleen size" EXACT [] synonym: "decreased splenic size" EXACT [] synonym: "hyposplenia" EXACT [] synonym: "reduced spleen size" EXACT [] is_a: MP:0002224 ! abnormal spleen size [Term] id: MP:0000693 name: spleen hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, in the spleen" [ISBN:0-683-40008-8, PMID:8646780] synonym: "hyperplastic spleen" EXACT [] synonym: "increased spleen cellularity" EXACT [] synonym: "splenic hyperplasia" EXACT [] is_a: MP:0000691 ! enlarged spleen [Term] id: MP:0000694 name: spleen hypoplasia alt_id: MP:0002466 def: "underdevelopment or reduced size, usually due to a reduced cell number, in the spleen" [J:43971] synonym: "decreased spleen cellularity" EXACT [] synonym: "hypoplastic spleen" EXACT [] synonym: "splenic hypoplasia" EXACT [] is_a: MP:0000692 ! small spleen [Term] id: MP:0000696 name: abnormal Peyer's patch morphology def: "any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [MESH:A10.549.600, PMID:15841100] synonym: "abnormal Peyer's patches" BROAD [] is_a: MP:0002378 ! abnormal gut-associated lymphoid tissue morphology [Term] id: MP:0000697 name: more prevalent Peyer's patches def: "OBSOLETE. greater or more obvious numbers of Peyer's patches" [MGI:cwg] is_obsolete: true consider: MP:0008132 consider: MP:0008136 [Term] id: MP:0000698 name: less prevalent Peyer's patches def: "OBSOLETE. fewer or less obvious numbers of Peyer's patches" [MGI:cwg] is_obsolete: true consider: MP:0008133 consider: MP:0008135 [Term] id: MP:0000700 name: abnormal lymph node number def: "deviation from the normal number of lymph nodes" [MGI:cwg] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0000701 name: abnormal lymph node size def: "deviation from the normal lymph node size" [MGI:cwg] is_a: MP:0002221 ! abnormal lymph organ size is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0000702 name: enlarged lymph nodes def: "lymph nodes of increased size" [MGI:cwg] synonym: "adenopathy" EXACT [] synonym: "lymphadenopathy" EXACT [] is_a: MP:0000701 ! abnormal lymph node size [Term] id: MP:0000703 name: abnormal thymus morphology alt_id: MP:0002366 def: "any structural anomaly of the primary lymphoid organ that is required for maturation of T cells" [ISBN:0-683-40008-8] synonym: "abnormal thymic morphology" EXACT [] synonym: "abnormal thymus structure" EXACT [] synonym: "thymus abnormalities" BROAD [] synonym: "thymus dysplasia" EXACT [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0000704 name: abnormal thymus development def: "anomaly in the formation and/or differentiation of the thymus" [MGI:cwg] synonym: "abnormal development of the thymus" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0000705 name: athymia def: "absence of the primary lymphoid organ" [ISBN:0-683-40008-8, MGI:csmith] synonym: "Absence of Thymus" EXACT [] synonym: "absent thymus" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0000706 name: small thymus def: "reduced size of the thymus" [J:31167, J:36561] is_a: MP:0002364 ! abnormal thymus size [Term] id: MP:0000708 name: thymus hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, in the thymus" [ISBN:0-683-40008-8, PMID:8646780] synonym: "hyperplastic thymus" EXACT [] synonym: "increased thymus cellularity" EXACT [] synonym: "thymic hyperplasia" EXACT [] is_a: MP:0000709 ! enlarged thymus [Term] id: MP:0000709 name: enlarged thymus def: "increased size of thymus" [PMID:9744866] is_a: MP:0002364 ! abnormal thymus size [Term] id: MP:0000711 name: thymus cortex hypoplasia alt_id: MP:0005045 def: "underdevelopment or reduced size, usually due to a reduced cell number, of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes" [ISBN:0-683-40008-8] synonym: "decreased cellularity of thymic cortex" EXACT [] synonym: "decreased thymic cortex cellularity" EXACT [] synonym: "decreased thymus cortex area" EXACT [] synonym: "hypoplasia of thymic cortex" EXACT [] synonym: "reduced thymus cortex area" EXACT [] synonym: "thymic cortex hypoplasia" EXACT [] is_a: MP:0002371 ! abnormal thymus cortex morphology [Term] id: MP:0000712 name: abnormal thymocyte alt_id: MP:0002372 def: "OBSOLETE." [MGI:csmith] synonym: "abnormal thymocytes" EXACT [] is_obsolete: true consider: MP:0008037 [Term] id: MP:0000713 name: abnormal thymocyte number def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0006387 [Term] id: MP:0000714 name: increased thymocyte number alt_id: MP:0000326 alt_id: MP:0000721 alt_id: MP:0001827 def: "greater than expected number of immature T cells located in the thymus" [CL:0000893] synonym: "increased thymocyte count" EXACT [] xref: CL:0000893 is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0005015 ! increased T cell number is_a: MP:0005090 ! increased double-negative T cell number [Term] id: MP:0000715 name: decreased thymocyte number alt_id: MP:0000338 alt_id: MP:0000725 alt_id: MP:0001826 def: "fewer than expected number of immature T cells located in the thymus" [CL:0000893] synonym: "reduced thymocyte number" EXACT [] xref: CL:0000893 is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0005018 ! decreased T cell number is_a: MP:0005089 ! decreased double-negative T cell number [Term] id: MP:0000716 name: abnormal immune system cell morphology def: "any structural anomaly of immune cells" [MGI:cwg] synonym: "abnormal immune cells" BROAD [] synonym: "immune system: cellular abnormalities" BROAD [] is_a: MP:0000685 ! abnormal immune system morphology [Term] id: MP:0000717 name: abnormal lymphocyte cell number def: "deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells" [MGI:csmith, MGI:cwg] synonym: "abnormal immune cell number" BROAD [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0002619 ! abnormal lymphocyte morphology [Term] id: MP:0000726 name: absent lymphocyte def: "absence of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells" [MGI:csmith, MGI:cwg] synonym: "absence of immune cell" BROAD [] synonym: "absence of lymphocyte" EXACT [] synonym: "loss of immune cell" BROAD [] is_a: MP:0005016 ! decreased lymphocyte cell number [Term] id: MP:0000727 name: absent CD8-positive T cells alt_id: MP:0000345 def: "lack of the set of single-positive T cells that express CD8 on their surface" [MGI:cwg] synonym: "absence of CD4-8+ Cells" EXACT [] synonym: "absence of CD4-8+ cells" EXACT [] synonym: "absent CD4-8+ T cells" EXACT [] synonym: "absent CD8+ T cells" EXACT [] synonym: "absent single positive T cells" BROAD [] synonym: "Loss of CD4-8+ cells" EXACT [] is_a: MP:0008079 ! decreased CD8-positive T cell number is_a: MP:0008084 ! absent single-positive T cells [Term] id: MP:0000729 name: abnormal myogenesis def: "anomaly in embryonic formation of muscle cells or fibers" [ISBN:0-683-40008-8] synonym: "myogenesis abnormalities" EXACT [] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000730 name: increased satellite cell number def: "greater number of unfused cells in muscle that play a role in muscle regeneration" [PMID:9284044] synonym: "increased number of satellite cells" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0000731 name: increased collagen deposition in the muscles def: "accumulation of collagen within the muscles" [MGI:cwg] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000732 name: delayed primary myocyte appearance def: "development of initial muscle cells at a later time than is normal" [MGI:cwg] is_a: MP:0000729 ! abnormal myogenesis [Term] id: MP:0000733 name: abnormal muscle development def: "any anomaly in the differentiation of muscle tissue" [MGI:cwg] synonym: "muscle development abnormalities" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000734 name: muscle hypoplasia def: "underdevelopment or reduced size of muscle, usually due to a reduced number of cells" [J:15108] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000736 name: delayed muscle development def: "late onset of the induction and/or differentiation of skeletal muscle" [PMID:7926784] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000737 name: abnormal myotome development def: "malformation of or absence of the part of the somite that develops into the musculature" [ISBN:0-683-40008-8] is_a: MP:0000729 ! abnormal myogenesis [Term] id: MP:0000738 name: impaired muscle contractility def: "inability or reduced ability of a muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0005620 ! abnormal muscle contractility [Term] id: MP:0000740 name: impaired smooth muscle contractility def: "inability or reduced ability of the smooth muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0000738 ! impaired muscle contractility [Term] id: MP:0000741 name: impaired contractility of detrusor smooth muscle def: "inability or reduced ability of the detrusor smooth muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0000740 ! impaired smooth muscle contractility [Term] id: MP:0000742 name: impaired contractility of ileal smooth muscle def: "inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0004005 ! impaired contractility of intestinal smooth muscle [Term] id: MP:0000743 name: muscle spasm alt_id: MP:0000744 def: "an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions" [MGI:csmith, MGI:llw2] synonym: "muscle spasms" EXACT [] is_a: MP:0009046 ! muscle twitch [Term] id: MP:0000745 name: tremors def: "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [ISBN:0-683-40008-8, MESH:C10.597.350.850] subset: Europhenome_Terms subset: Sanger_Terms synonym: "quivering" EXACT [] synonym: "shaking" EXACT [] synonym: "shivering" BROAD [] synonym: "trembling" EXACT [] synonym: "tremor" EXACT [] is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0000746 name: weakness def: "state of being infirm or less strong than normal" [PMID:9420327] is_a: MP:0004262 ! abnormal physical strength [Term] id: MP:0000747 name: muscle weakness def: "loss of muscle strength" [MGI:csmith] subset: Europhenome_Terms is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0000748 name: progressive muscle weakness def: "increasing loss of muscle strength over time" [J:67994, MGI:csmith] is_a: MP:0000747 ! muscle weakness [Term] id: MP:0000749 name: muscle degeneration def: "pathological deterioration of muscle tissue, often accompanied by loss of function" [MGI:csmith] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000750 name: abnormal muscle regeneration alt_id: MP:0002547 def: "inability or defects in ability to repair muscle after injury or disease" [MGI:csmith, PMID:9284044] synonym: "muscle regeneration" EXACT [] synonym: "muscle regeneration abnormalities" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0000751 name: myopathy def: "any abnormal condition or disease of the skeletal muscle" [ISBN:0-683-40008-8, PMID:9284044] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0000752 name: dystrophic muscle def: "progressive weakness and wasting of muscle" [ISBN:0-683-40008-8, J:67994] is_a: MP:0002269 ! muscular atrophy [Term] id: MP:0000753 name: paralysis def: "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [ISBN:0-683-40008-8] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0000754 name: paresis def: "partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [ISBN:0-683-40008-8] synonym: "partial paralysis" EXACT [] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0000755 name: hindlimb paralysis def: "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [ISBN:0-683-40008-8] subset: Sanger_Terms is_a: MP:0000753 ! paralysis [Term] id: MP:0000756 name: forelimb paralysis def: "loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply" [ISBN:0-683-40008-8] is_a: MP:0000753 ! paralysis [Term] id: MP:0000757 name: herniated abdominal wall alt_id: Fyler:4414 def: "protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera" [ISBN:0-683-40008-8, PMID:9144284] subset: CvDC_Terms synonym: "abdominoschisis" EXACT [] synonym: "gastroschisis" EXACT [] synonym: "laparoschisis" EXACT [] synonym: "paraomphalocele" EXACT [] is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0000759 name: abnormal skeletal muscle morphology def: "any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body" [ISBN:0-683-40008-8] synonym: "abnormal skeletal muscles" BROAD [] synonym: "abnormal striated muscle morphology" RELATED [] synonym: "skeletal muscle abnormalities" BROAD [] synonym: "skeletal muscle dysplasia" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000761 name: thin diaphragm muscle def: "reduced thickness of the diaphragm muscle" [MGI:csmith] is_a: MP:0002279 ! abnormal diaphragm morphology [Term] id: MP:0000762 name: abnormal tongue morphology def: "any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8] synonym: "tongue abnormalities" BROAD [] synonym: "tongue dysplasia" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000763 name: abnormal filiform papillae morphology def: "any structural anomaly of the keratinized projections on the dorsal surface of the tongue" [PMID:9420327] synonym: "filiform papillae dysplasia" EXACT [] is_a: MP:0000764 ! abnormal tongue epithelium morphology [Term] id: MP:0000764 name: abnormal tongue epithelium morphology def: "any structural anomaly of the epithelial layer of the tongue" [ISBN:0-683-40008-8, MGI:tc] synonym: "tongue epithelium dysplasia" EXACT [] is_a: MP:0000762 ! abnormal tongue morphology [Term] id: MP:0000765 name: abnormal tongue squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the tongue" [ISBN:0-683-40008-8, MGI:tc] synonym: "tongue squamous epithelium dysplasia" EXACT [] is_a: MP:0000764 ! abnormal tongue epithelium morphology [Term] id: MP:0000766 name: absent tongue squamous epithelium def: "missing the scaly epithelial layer of the tongue" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "absence of tongue squamous epithelium" EXACT [] synonym: "loss of tongue squamous epithelium" EXACT [] is_a: MP:0000765 ! abnormal tongue squamous epithelium morphology [Term] id: MP:0000767 name: abnormal smooth muscle morphology def: "any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc." [ISBN:0-683-40008-8] synonym: "smooth muscle abnormalities" BROAD [] synonym: "smooth muscle dysplasia" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000768 name: nervous system abnormalities def: "OBSOLETE. any malformation or anomaly in the entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses" [MESH:A08, MGI:csmith] synonym: "nervous system defects" EXACT [] is_obsolete: true consider: MP:0003633 consider: MP:0006387 [Term] id: MP:0000771 name: abnormal brain size def: "deviation from the average range of brain size for an organism" [MGI:csmith] synonym: "brain size abnormalities" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0000774 name: decreased brain size alt_id: MP:0000772 def: "smaller appearance of the brain" [PMID:8837770] subset: Sanger_Terms synonym: "micrencephaly" EXACT [] synonym: "microencephaly" EXACT [] synonym: "reduced brain size" EXACT [] synonym: "small brain" EXACT [] synonym: "smaller brain size" EXACT [] is_a: MP:0000771 ! abnormal brain size [Term] id: MP:0000776 name: abnormal inferior colliculus morphology alt_id: MP:0000902 def: "any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements" [ISBN:0-683-40008-8] synonym: "abnormal corpora quadrigeminum posterius morphology" EXACT [] synonym: "abnormal inferior nasal colliculus morphology" EXACT [] synonym: "abnormal posterior quadrigeminal body morphology" EXACT [] synonym: "inferior colliculus dysplasia" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000777 name: increased inferior colliculus size alt_id: MP:0000903 def: "enlargement of the paired inferior eminence of the mesencephalic tectum" [ISBN:0-683-40008-8, J:57538] synonym: "increased corpora quadrigeminum posterius size" EXACT [] synonym: "increased inferior nasal colliculus size" EXACT [] synonym: "increased posterior quadrigeminal body size" EXACT [] synonym: "increased size of inferior colliculus" EXACT [] is_a: MP:0000776 ! abnormal inferior colliculus morphology [Term] id: MP:0000778 name: abnormal nervous system tract morphology def: "any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord" [MGI:pvb] synonym: "abnormal tract" BROAD [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0000779 name: gliosis of tract def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002183 [Term] id: MP:0000780 name: abnormal corpus callosum morphology def: "any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [ISBN:0-683-40008-8, MGI:csmith] synonym: "corpus callosum dysplasia" EXACT [] is_a: MP:0008219 ! abnormal dorsal telencephalic commissure morphology is_a: MP:0008540 ! abnormal cerebrum morphology [Term] id: MP:0000781 name: decreased corpus callosum size def: "smaller commissural plate interconnecting the cortical hemispheres of the brain" [ISBN:0-683-40008-8, PMID:9010203] subset: Sanger_Terms synonym: "decreased size of corpus callosum" EXACT [] synonym: "reduced corpus callosum size" EXACT [] synonym: "reduced size of corpus callosum" EXACT [] is_a: MP:0000780 ! abnormal corpus callosum morphology [Term] id: MP:0000783 name: abnormal forebrain morphology def: "any structural anomaly of the part of the brain developed from the most rostral of the three primary vesicles of the embryonic neural tube from which the diencephalon and telencephalon are derived" [NLX:birnlex_1509, PMID:9010203] synonym: "forebrain dysplasia" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0000784 name: forebrain hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior primitive cerebral vesicle that is the most rostral of three primary vesicles of the embryonic neural tube" [ISBN:0-683-40008-8] synonym: "hypoplastic forebrain" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0000785 name: telencephalon hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in cerebral cortex and basal ganglia" [ISBN:0-683-40008-8, PMID:9362461] synonym: "hypoplastic telencephalon" EXACT [] is_a: MP:0000787 ! abnormal telencephalon morphology [Term] id: MP:0000786 name: abnormal embryonic neuroepithelial layer differentiation def: "abnormal or arrest of differentiation or patterning of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [PMID:9362461] is_a: MP:0000913 ! abnormal brain development is_a: MP:0004261 ! abnormal embryonic neuroepithelium morphology [Term] id: MP:0000787 name: abnormal telencephalon morphology alt_id: MP:0000782 def: "any structural anomaly of the paired anteriolateral division of the embryonic prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived" [ISBN:0-683-40008-8, MESH:A08.186.211.730.885] synonym: "telencephalon dysplasia" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0000788 name: abnormal cerebral cortex morphology def: "any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri; it is responsible for intellectual faculties and higher mental functions" [MESH:A08.186.211.730.885.287.500] synonym: "abnormal pallium morphology" EXACT [] synonym: "cerebral cortex dysplasia" EXACT [] synonym: "pallium dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebrum morphology [Term] id: MP:0000789 name: thickened cerebral cortex def: "increased depth of the mantle covering the surface of the cerebral hemispheres" [ISBN:0-683-40008-8, J:49481] subset: Sanger_Terms is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0000790 name: abnormal stratification in cerebral cortex def: "abnormal formation or pattern of the layers of the cerebral cortex" [J:64289, MGI:csmith] synonym: "abnormal cerebral cortex stratification" EXACT [] synonym: "abnormal stratification in neocortex" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0000791 name: delaminated cerebral cortex def: "splitting of the layers of the grey cellular mantle covering the surface of the brain" [ISBN:0-683-40008-8, MGI:csmith, PMID:9010203] synonym: "delaminated neocortex" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0000792 name: abnormal cortical marginal zone morphology def: "any structural anomaly of the developing superficial cortical layer located just under the pia matter" [MGI:csmith, PMID:1812236] synonym: "abnormal MZ morphology" EXACT [] synonym: "cortical marginal zone dysplasia" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0000794 name: abnormal parietal lobe morphology def: "any structural anomaly of the upper central part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.670] synonym: "parietal lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebrum morphology [Term] id: MP:0000795 name: abnormal postcentral gyrus morphology def: "any structural anomaly of the area of the parietal lobe that receives general sensation from the body" [MGI:csmith] synonym: "postcentral gyrus dysplasia" EXACT [] is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000796 name: abnormal sensory dissociation area morphology def: "any structural anomaly of the area of the parietal lobe that integrates tactile and visual stimuli" [MGI:csmith] synonym: "sensory dissociation area dysplasia" EXACT [] is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000797 name: abnormal supramarginal gyrus morphology def: "any structural anomaly of the area of the frontal lobe that is involved in perception based on sensory stimuli" [MGI:csmith] synonym: "supramarginal gyrus dysplasia" EXACT [] is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000798 name: abnormal frontal lobe morphology def: "any structural anomaly of the anterior part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.270] synonym: "frontal lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebrum morphology [Term] id: MP:0000799 name: abnormal precentral gyrus morphology def: "any structural anomaly of the area of the frontal lobe that contains the cell bodies of the primary motor pathways" [MGI:csmith] synonym: "abnormal primary motor area morphology" EXACT [] synonym: "precentral gyrus dysplasia" EXACT [] is_a: MP:0000798 ! abnormal frontal lobe morphology [Term] id: MP:0000800 name: abnormal prefrontal gyrus morphology def: "any structural anomaly of the area of the frontal lobe that is involved with integration of voluntary movements and with speech" [MGI:csmith] synonym: "abnormal supplementary motor/speech area morphology" EXACT [] synonym: "prefrontal gyrus dysplasia" EXACT [] is_a: MP:0000798 ! abnormal frontal lobe morphology [Term] id: MP:0000801 name: abnormal temporal lobe morphology def: "any structural anomaly of the lower lateral part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.863] synonym: "temporal lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebrum morphology [Term] id: MP:0000802 name: abnormal superior temporal gyrus morphology def: "any structural anomaly of one of three major convolutions of the external surface of the temporal lobe of the cerebral hemispheres that is uppermost and borders the lateral (sylvian) fissure, and contains the primary auditory cortex" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal first temporal convolution morphology" EXACT [] synonym: "abnormal gyrus temporalis superior morphology" EXACT [] synonym: "abnormal superior temporal convolution morphology" EXACT [] synonym: "superior temporal gyrus dysplasia" EXACT [] is_a: MP:0000801 ! abnormal temporal lobe morphology [Term] id: MP:0000803 name: abnormal transverse gyrus of Heschl morphology def: "any structural anomaly of the area of the temporal lobe concerned with hearing" [MGI:csmith] synonym: "abnormal primary auditory area morphology" EXACT [] synonym: "transverse gyrus of Heschl dysplasia" EXACT [] is_a: MP:0004631 ! abnormal auditory cortex morphology [Term] id: MP:0000804 name: abnormal occipital lobe morphology def: "any structural anomaly of the posterior part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.571] synonym: "occipital lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebrum morphology [Term] id: MP:0000805 name: abnormal visual cortex morphology def: "any structural anomaly of the area of the occipital cortex concerned with vision" [MESH:A08.186.211.730.885.287.500.571.735] synonym: "abnormal striate cortex morphology" EXACT [] synonym: "striate cortex dysplasia" EXACT [] synonym: "visual cortex dysplasia" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0000804 ! abnormal occipital lobe morphology [Term] id: MP:0000807 name: abnormal hippocampus morphology alt_id: MP:0000806 alt_id: MP:0000810 def: "any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6, MGI:csmith, PMID:9010203] comment: The synonym abnormal hippocampal formation is a frequently used synonym in the literature for the hippocampus. It is unfortunate that it implies a developmental process. There is also a lack of consensus relating to terms describing the hippocampus and/or the adjacent cerebral cortex with the term hippocampus sometimes referring to the hippocampal formation (or region) and sometimes only to the Ammon gyrus (Ammon's horn). In this ontology, we have used hippocampus to mean the entire formation (region). synonym: "abnormal hippocampal formation morphology" RELATED [] synonym: "abnormal hippocampal region" BROAD [] synonym: "abnormal hippocampus" BROAD [] synonym: "abnormal hippocampus region" BROAD [] synonym: "hippocampal defects" BROAD [] synonym: "hippocampus dysplasia" EXACT [] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0000801 ! abnormal temporal lobe morphology is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0000808 name: abnormal hippocampus development def: "improper differentiation of the hippocampus" [MGI:tc] synonym: "abnormal hippocampal development" EXACT [] synonym: "hippocampal dysgenesis" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology is_a: MP:0003232 ! abnormal forebrain development [Term] id: MP:0000809 name: absent hippocampus def: "missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system" [ISBN:0-683-40008-8, PMID:10631168] synonym: "absence of hippocampus" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000811 name: hippocampal neuron degeneration def: "a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [J:72427, MGI:cml] synonym: "degenerating hippocampal neurons" EXACT [] is_a: MP:0003224 ! neuron degeneration is_a: MP:0009939 ! abnormal hippocampus neuron morphology [Term] id: MP:0000812 name: abnormal dentate gyrus morphology def: "any structural anomaly of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [ISBN:0-683-40008-8, MGI:csmith, PMID:9010203] synonym: "abnormal area dentata morphology" EXACT [] synonym: "abnormal dentate gyrus of hippocampal formation morphology" EXACT [] synonym: "abnormal fascia dentata morphology" EXACT [] synonym: "dentate gyrus dysplasia" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000813 name: abnormal hippocampus layer morphology def: "any structural anomaly of the layers of the laminar structure of the hippocampus" [ISBN:0-683-40008-8, MGI:csmith, PMID:9010203] synonym: "abnormal hippocampal laminar structure" EXACT [] synonym: "abnormal laminar structure of hippocampus" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000814 name: absent dentate gyrus def: "lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers" [ISBN:0-683-40008-8, PMID:10631168] synonym: "absence of dentate gyrus" EXACT [] is_a: MP:0000812 ! abnormal dentate gyrus morphology [Term] id: MP:0000815 name: abnormal Ammon gyrus morphology def: "any structural anomaly of one or both of the two interlocking gyri of the hippocampus formation; a circonvolution of rhinencephalon, the grey substance of which is rich in big pyramidal neuronal cells" [ISBN:0-683-40008-8] synonym: "abnormal Ammon horn morphology" EXACT [] synonym: "abnormal Ammon's horn morphology" EXACT [] synonym: "abnormal CA" BROAD [] synonym: "abnormal Cornu Ammonis morphology" EXACT [] synonym: "abnormal hippocampus proper morphology" EXACT [] synonym: "Ammon gyrus dysplasia" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000816 name: abnormal hippocampal molecular layer morphology def: "OBSOLETE." [MGI:csmith] synonym: "abnormal hippocampal molecular layer" EXACT [] is_obsolete: true replaced_by: MP:0008286 [Term] id: MP:0000818 name: abnormal amygdala morphology def: "any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses" [ISBN:0-683-40008-8, MESH:A08.186.211.577.090] synonym: "abnormal amygdaloid body morphology" EXACT [] synonym: "amygdala dysplasia" EXACT [] is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0000819 name: abnormal olfactory bulb morphology alt_id: MP:0000943 def: "any structural anomaly of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [ISBN:0-683-40008-8, ISBN:0838580343] synonym: "abnormal olfactory bulb" EXACT [] xref: MA:0000194 is_a: MP:0009944 ! abnormal olfactory lobe morphology [Term] id: MP:0000820 name: abnormal choroid plexus morphology def: "any structural anomaly of the fringe of the tela choroidea of the brain ventricles" [ISBN:0-683-40008-8, PMID:9362461] synonym: "choroid plexus dysplasia" EXACT [] is_a: MP:0002200 ! abnormal brain ventricle/choroid plexus morphology [Term] id: MP:0000821 name: choroid plexus hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the tela choroidea of the brain ventricles" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] synonym: "hyperplastic choroid plexus" EXACT [] is_a: MP:0000820 ! abnormal choroid plexus morphology [Term] id: MP:0000822 name: abnormal brain ventricle morphology def: "any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [ISBN:0-683-40008-8] synonym: "abnormal ventricle" BROAD [] synonym: "brain ventricle dysplasia" EXACT [] is_a: MP:0002200 ! abnormal brain ventricle/choroid plexus morphology [Term] id: MP:0000823 name: abnormal lateral ventricle morphology def: "any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:cwg] synonym: "abnormal lateral ventricles" BROAD [] synonym: "lateral ventricle dysplasia" EXACT [] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0000822 ! abnormal brain ventricle morphology [Term] id: MP:0000825 name: dilated lateral ventricles alt_id: MP:0000824 def: "the luminal space of the lateral ventricles is increased in volume or area, usually with an increase in contained fluid, in the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [ISBN:0-683-40008-8, MESH:A08.186.211.276.650, MGI:csmith, PMID:9010203] synonym: "dilated ventricle of cerebral hemisphere" EXACT [] synonym: "dilated ventriculus lateralis" EXACT [] synonym: "lateral ventricle dilation" EXACT [] is_a: MP:0000823 ! abnormal lateral ventricle morphology [Term] id: MP:0000826 name: abnormal third ventricle morphology def: "any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:cwg] synonym: "third ventricle dysplasia" EXACT [] is_a: MP:0000822 ! abnormal brain ventricle morphology is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000827 name: dilated third ventricle def: "the luminal space of the third ventricle is increased in volume or area, usually with an increase in contained fluid, in the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:cwg] synonym: "dilated ventricle of diencephalon" EXACT [] synonym: "dilated ventriculus tertius" EXACT [] synonym: "third ventricle dilation" RELATED [] is_a: MP:0000826 ! abnormal third ventricle morphology [Term] id: MP:0000828 name: abnormal fourth ventricle morphology def: "any structural anomaly of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [MESH:A08.186.211.276.500, MGI:cwg] synonym: "abnormal ventricle of rhombencephalon morphology" EXACT [] synonym: "abnormal ventriculus quartus morphology" EXACT [] synonym: "fourth ventricle dysplasia" EXACT [] is_a: MP:0000822 ! abnormal brain ventricle morphology is_a: MP:0000841 ! abnormal hindbrain morphology [Term] id: MP:0000829 name: dilated fourth ventricle def: "the luminal space of the fourth ventricle is increased in volume or area, usually with an increase in contained fluid, in the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [MESH:A08.186.211.276.500, MGI:cwg] synonym: "dilated ventricle of rhombencephalon" EXACT [] synonym: "dilated ventriculus quartus" EXACT [] synonym: "fourth ventricle dilation" EXACT [] is_a: MP:0000828 ! abnormal fourth ventricle morphology [Term] id: MP:0000830 name: abnormal diencephalon morphology def: "any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [ISBN:0838580343, MESH:A08.186.211.730.317] synonym: "diencephalon dysplasia" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0000831 name: diencephalon hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the rostral portion of the brain stem" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] synonym: "hyperplastic diencephalon" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000832 name: abnormal thalamus morphology def: "any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.826] synonym: "thalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000833 name: thalamus hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the thalamus" [ISBN:0-683-40008-8] synonym: "hyperplastic thalamus" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0000834 name: abnormal subthalamus morphology def: "any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.800] synonym: "abnormal ventral thalamus" EXACT [] synonym: "subthalamus dysplasia" EXACT [] synonym: "ventral thalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000835 name: abnormal subthalamic nucleus morphology def: "any structural anomaly of the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.800.800] synonym: "abnormal corpus luysi morphology" EXACT [] synonym: "subthalamic nucleus dysplasia" EXACT [] is_a: MP:0000834 ! abnormal subthalamus morphology is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0000836 name: abnormal substantia nigra morphology def: "any structural anomaly of the layer of grey substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis)" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal locus niger morphology" EXACT [] synonym: "abnormal nucleus niger morphology" EXACT [] synonym: "substantia nigra dysplasia" EXACT [] is_a: MP:0000897 ! abnormal midbrain morphology is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0000837 name: abnormal hypothalamus morphology def: "any structural anomaly of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release" [MESH:A08.186.211.464.482] synonym: "hypothalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0000838 name: abnormal pituitary afferents def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000839 name: hypothalamus hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the hypothalamus" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] synonym: "hyperplastic hypothalamus" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0000840 name: abnormal epithalamus morphology def: "any structural anomaly of the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle" [ISBN:0-683-40008-8, MESH:A08.186.211.464.200] synonym: "epithalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000841 name: abnormal hindbrain morphology def: "any structural anomaly of the caudal region of the brain; includes cerebellum, pons and medulla oblongata" [ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal rhombencephalon morphology" RELATED [] synonym: "hindbrain dysplasia" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0000842 name: absent superior olivary complex def: "missing nucleus of neurons on the dorsal part of the lateral surface of the pons; it normally receives projection fibers from the cochlear nuclei and is prominently involved in spatial localization of sound" [ISBN:0-683-40008-8, PMID:1346922] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0000843 name: absent facial nuclei def: "missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle" [ISBN:0-683-40008-8, PMID:1346922] is_a: MP:0000909 ! abnormal facial motor nucleus morphology [Term] id: MP:0000844 name: abnormal pontine flexure morphology def: "any structural anomaly of the bend in the developing neural tube that produces a thinning of the roof of the pons and medulla oblongata and defines the boundary between the metencephalon and medulla oblongata in the embryo" [MGI:smb] is_a: MP:0000841 ! abnormal hindbrain morphology is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0000846 name: abnormal medulla oblongata morphology alt_id: MP:0000845 def: "any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate" [ISBN:0838580343] synonym: "abnormal myelencephalon morphology" EXACT [] synonym: "medulla oblongata dysplasia" EXACT [] synonym: "myelencephalon dysplasia" EXACT [] is_a: MP:0000841 ! abnormal hindbrain morphology is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0000847 name: abnormal metencephalon morphology def: "any structural anomaly of the anterior part of the rhombencephalon" [ISBN:0-683-40008-8, MESH:A08.186.211.132.810.428] synonym: "metencephalon dysplasia" EXACT [] is_a: MP:0000841 ! abnormal hindbrain morphology [Term] id: MP:0000848 name: abnormal pons morphology def: "any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum" [ISBN:0-683-40008-8, ISBN:0838580343, PMID:1346922] synonym: "pons dysplasia" EXACT [] is_a: MP:0000841 ! abnormal hindbrain morphology is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0000849 name: abnormal cerebellum morphology def: "any structural anomaly of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [ISBN:0838580343, PMID:9778510] synonym: "cerebellum dysplasia" EXACT [] is_a: MP:0000847 ! abnormal metencephalon morphology [Term] id: MP:0000850 name: absent cerebellum def: "missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement" [ISBN:0-683-40008-8, PMID:7925010] synonym: "absence of cerebellum" EXACT [] is_a: MP:0000849 ! abnormal cerebellum morphology [Term] id: MP:0000851 name: cerebellum hypoplasia def: "underdevelopment or reduced size, usually due to a reduced cell number, in the cerebellum" [MGI:csmith, PMID:9362461] synonym: "cerebellar hypoplasia" EXACT [] synonym: "hypoplastic cerebellum" EXACT [] synonym: "reduced cerebellum cellularity" EXACT [] is_a: MP:0000852 ! small cerebellum [Term] id: MP:0000852 name: small cerebellum def: "reduced size of cerebellum" [MGI:csmith] synonym: "decreased cerebellum size" EXACT [] synonym: "reduced cerebellum size" EXACT [] is_a: MP:0000849 ! abnormal cerebellum morphology [Term] id: MP:0000853 name: absent cerebellar foliation def: "missing small branches of the cerebellar lobules" [ISBN:0838580343, MGI:tc, PMID:10716451] synonym: "absence of cerebellum foliation" EXACT [] synonym: "lack of cerebellar foliation" EXACT [] synonym: "lack of cerebellum foliation" EXACT [] synonym: "loss of cerebellar foliation" EXACT [] synonym: "loss of cerebellum foliation" EXACT [] is_a: MP:0000857 ! abnormal cerebellar foliation [Term] id: MP:0000854 name: abnormal cerebellum development def: "aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills" [ISBN:0-683-40008-8] synonym: "abnormal cerebellar development" EXACT [] is_a: MP:0000849 ! abnormal cerebellum morphology is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0000855 name: accelerated formation of intralobular fissures def: "formation of the major fissures of the cerebellum earlier in development than normal" [J:56546] is_a: MP:0000854 ! abnormal cerebellum development [Term] id: MP:0000856 name: abnormal cerebellar plate morphology def: "any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium" [PMID:9362461] synonym: "cerebellar plate dysplasia" EXACT [] is_a: MP:0000854 ! abnormal cerebellum development [Term] id: MP:0000857 name: abnormal cerebellar foliation def: "any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported" [ISBN:0838580343, PMID:17506688] is_a: MP:0000854 ! abnormal cerebellum development is_a: MP:0009964 ! abnormal cerebellum lobule morphology [Term] id: MP:0000858 name: altered metastatic potential def: "altered likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it" [MGI:anna, MGI:csmith] is_a: MP:0010639 ! altered tumor pathology [Term] id: MP:0000859 name: abnormal somatosensory cortex morphology def: "any structural anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface" [ISBN:0-683-40008-8, MESH:A08.186.211.730.885.287.500.670.675] synonym: "abnormal somatic sensory cortex morphology" EXACT [] synonym: "abnormal somesthetic area morphology" EXACT [] synonym: "somatosensory cortex dysplasia" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000860 name: abnormal primary somatosensory cortex morphology def: "any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation" [ISBN:0838580343] synonym: "abnormal primary somatic sensory cortex morphology" EXACT [] is_a: MP:0000859 ! abnormal somatosensory cortex morphology [Term] id: MP:0000861 name: disorganized barrel cortex def: "derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae" [ISBN:0838580343, J:64064] is_a: MP:0003989 ! abnormal barrel cortex morphology [Term] id: MP:0000862 name: absent barrels in primary somatosensory cortex def: "missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae" [ISBN:0838580343] synonym: "absence of barrels in primary somatosensory cortex" EXACT [] is_a: MP:0003989 ! abnormal barrel cortex morphology [Term] id: MP:0000863 name: abnormal secondary somatosensory cortex morphology def: "any structural anomaly of the area of the upper bank of the lateral sulcus that is involved in somatic sensation" [ISBN:0838580343] synonym: "abnormal secondary somatic sensory cortex morphology" EXACT [] is_a: MP:0000859 ! abnormal somatosensory cortex morphology [Term] id: MP:0000864 name: abnormal cerebellum vermis morphology def: "any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei" [ISBN:0-683-40008-8, ISBN:0838580343, NLX:birnlex_1106, PMID:10742104] synonym: "abnormal cerebellar vermis morphology" EXACT [] synonym: "abnormal spinocerebellum morphology vermis part" EXACT [] synonym: "abnormal vermis morphology" EXACT [] synonym: "cerebellum vermis dysplasia" EXACT [] xref: MA:0000202 is_a: MP:0004097 ! abnormal cerebellar cortex morphology [Term] id: MP:0000865 name: absent cerebellum vermis def: "missing narrow middle zone between the two hemispheres of the cerebellum" [ISBN:0-683-40008-8, PMID:9362461] synonym: "absent spinocerebellum morphology vermis part" RELATED [] synonym: "absent vermis" RELATED [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology [Term] id: MP:0000866 name: cerebellum vermis hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the vermis" [PMID:10742104] synonym: "hypoplastic vermis" EXACT [] synonym: "vermis hypoplasia" EXACT [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology [Term] id: MP:0000867 name: abnormal cerebellum anterior vermis morphology def: "any structural anomaly of the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located anterior to the primary fissure" [ISBN:0-683-40008-8] synonym: "abnormal anterior vermis morphology" EXACT [] synonym: "abnormal rostral vermis morphology" EXACT [] synonym: "cerebellum anterior vermis dysplasia" EXACT [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology is_a: MP:0009960 ! abnormal cerebellum anterior lobe morphology [Term] id: MP:0000868 name: decreased anterior vermis size def: "smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum" [ISBN:0-683-40008-8, J:57538] synonym: "decreased size of anterior vermis" EXACT [] synonym: "reduced anterior vermis size" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology [Term] id: MP:0000869 name: abnormal cerebellum posterior vermis morphology def: "any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure" [ISBN:0-683-40008-8, PMID:10742104] synonym: "abnormal caudal vermis morphology" EXACT [] synonym: "abnormal inferior vermis morphology" EXACT [] synonym: "abnormal posterior vermis morphology" EXACT [] synonym: "cerebellum posterior vermis dysplasia" EXACT [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology is_a: MP:0009962 ! abnormal cerebellum posterior lobe morphology [Term] id: MP:0000870 name: absent cerebellum vermis lobule VIII def: "missing part of the inferior vermis of the cerebellum (vermis lobule VIII)" [ISBN:0-683-40008-8, PMID:10742104] synonym: "absence of vermal pyramis" EXACT [] synonym: "absent cerebellar pyramid" EXACT [] synonym: "absent pyramid of vermis" EXACT [] synonym: "absent pyramis of cerebellum" EXACT [] synonym: "absent vermal pyramis" EXACT [] is_a: MP:0009996 ! abnormal cerebellum vermis lobule VIII morphology [Term] id: MP:0000871 name: absent cerebellum vermis lobule IX def: "missing triangular elevation on the vermis of the cerebellum" [ISBN:0-683-40008-8, PMID:10742104] synonym: "absence of vermal uvula" EXACT [] synonym: "absent vermal uvula" EXACT [] is_a: MP:0009992 ! abnormal cerebellum vermis lobule IX morphology [Term] id: MP:0000872 name: abnormal cerebellum external granule cell layer morphology def: "any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells" [MGI:tc] synonym: "abnormal EGL" BROAD [] synonym: "abnormal external germinal layer morphology" EXACT [] synonym: "abnormal external granule cell layer morphology" BROAD [] synonym: "abnormal external granule layer morphology" EXACT [] is_a: MP:0000854 ! abnormal cerebellum development [Term] id: MP:0000873 name: thin external granule cell layer def: "reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells" [MGI:tc, PMID:10716451] synonym: "thin EGL" EXACT [] synonym: "thin external germinal layer" EXACT [] synonym: "thin external granule layer" EXACT [] is_a: MP:0000872 ! abnormal cerebellum external granule cell layer morphology [Term] id: MP:0000874 name: irregular external granule cell layer def: "uneven thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells" [MGI:tc] synonym: "irregular EGL" EXACT [] synonym: "irregular external germinal layer" EXACT [] synonym: "irregular external granule layer" EXACT [] is_a: MP:0000872 ! abnormal cerebellum external granule cell layer morphology [Term] id: MP:0000875 name: abnormal cerebellar Purkinje cell layer def: "any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [ISBN:0-683-40008-8] synonym: "abnormal Purkinje cell layer" EXACT [] is_a: MP:0009956 ! abnormal cerebellar layer morphology [Term] id: MP:0000876 name: Purkinje cell degeneration def: "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854] is_a: MP:0000877 ! abnormal Purkinje cell morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0000877 name: abnormal Purkinje cell morphology def: "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [ISBN:0838580343] synonym: "abnormal Purkinje cells" BROAD [] synonym: "abnormal Purkinje neuron morphology" EXACT [] is_a: MP:0000875 ! abnormal cerebellar Purkinje cell layer is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0000878 name: abnormal Purkinje cell number def: "different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [ISBN:0-683-40008-8] is_a: MP:0000877 ! abnormal Purkinje cell morphology [Term] id: MP:0000879 name: increased Purkinje cell number alt_id: MP:0000325 def: "greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0000878 ! abnormal Purkinje cell number is_a: MP:0008947 ! increased neuron number [Term] id: MP:0000880 name: decreased Purkinje cell number alt_id: MP:0000337 def: "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [ISBN:0-683-40008-8, PMID:9362461] synonym: "reduced Purkinje cell number" EXACT [] is_a: MP:0000878 ! abnormal Purkinje cell number is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0000881 name: Abnormal Purkinje Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000882 name: Increased Purkinje Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000883 name: Decreased Purkinje Cell Size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000884 name: delaminated Purkinje cell layer def: "splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum" [ISBN:0-683-40008-8, PMID:10742104] is_a: MP:0000875 ! abnormal cerebellar Purkinje cell layer [Term] id: MP:0000885 name: ectopic Purkinje cell def: "Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum" [MGI:tc, PMID:10716451] synonym: "heterotopic Purkinje cell" EXACT [] is_a: MP:0000877 ! abnormal Purkinje cell morphology [Term] id: MP:0000886 name: abnormal cerebellar granule layer def: "any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [ISBN:0-683-40008-8, ISBN:0838580343] synonym: "abnormal granule layer morphology" EXACT [] synonym: "abnormal IGL" BROAD [] synonym: "abnormal internal granule cell layer morphology" EXACT [] synonym: "abnormal internal granule layer morphology" EXACT [] is_a: MP:0009956 ! abnormal cerebellar layer morphology [Term] id: MP:0000887 name: delaminated cerebellar granule layer def: "splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells" [ISBN:0-683-40008-8, PMID:10742104] synonym: "delaminated internal granule layer" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer [Term] id: MP:0000888 name: absent cerebellar granule layer def: "absence of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [ISBN:0-683-40008-8, ISBN:0838580343] synonym: "absent internal granule layer" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer [Term] id: MP:0000889 name: abnormal cerebellar molecular layer def: "any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [ISBN:0-683-40008-8, PMID:9010203] synonym: "abnormal molecular layer" EXACT [] is_a: MP:0009956 ! abnormal cerebellar layer morphology [Term] id: MP:0000890 name: thin cerebellar molecular layer def: "reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [ISBN:0-683-40008-8, PMID:9010203] is_a: MP:0000889 ! abnormal cerebellar molecular layer [Term] id: MP:0000891 name: Abnormal Thickness of Molecular Layer def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000892 name: Increased Thickness of Molecular Layer def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000893 name: Decreased Thickness of Molecular Layer def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000894 name: Abnormal Cell Number of Molecular Layer def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000895 name: Increased Cell Number of Molecular Layer def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000896 name: Decreased Cell Number of Molecular Layer def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0000897 name: abnormal midbrain morphology def: "any structural anomaly associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [ISBN:0838580343, J:23882] synonym: "abnormal mesencephalon morphology" EXACT [] synonym: "mesencephalon dysplasia" EXACT [] synonym: "midbrain dysplasia" EXACT [] is_a: MP:0002152 ! abnormal brain morphology is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0000898 name: midbrain hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells associated with the middle of the three cerebral vesicles of the embryo" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] synonym: "hyperplastic midbrain" EXACT [] is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0000899 name: abnormal corpora quadrigemina morphology def: "any structural anomaly of the inferior and superior colliculus" [PMID:9778510] synonym: "abnormal colliculi morphology" EXACT [] synonym: "abnormal colliculus morphology" RELATED [] synonym: "abnormal quadrigeminal body morphology" EXACT [] synonym: "corpora quadrigemina dysplasia" EXACT [] is_a: MP:0006104 ! abnormal tectum morphology [Term] id: MP:0000900 name: decreased colliculi size def: "smaller inferior and superior colliculus" [ISBN:0-683-40008-8, PMID:7925010] synonym: "decreased size of colliculi" EXACT [] synonym: "reduced colliculi size" EXACT [] synonym: "reduced size of colliculi" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000901 name: altered position of colliculi def: "positional abnormality of the inferior and superior colliculus" [J:57538] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000904 name: abnormal superior colliculus morphology def: "any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing" [ISBN:0-683-40008-8] synonym: "abnormal anterior quadrigeminal body morphology" EXACT [] synonym: "abnormal corpora quadrigeminum posterius anterius morphology" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000905 name: increased superior colliculus size def: "enlargement of the paired superior eminence of the mesencephalic tectum" [ISBN:0-683-40008-8, J:57538] synonym: "increased anterior quadrigeminal body size" EXACT [] synonym: "increased corpora quadrigeminum posterius anterius size" EXACT [] synonym: "increased size of superior colliculus" EXACT [] is_a: MP:0000904 ! abnormal superior colliculus morphology [Term] id: MP:0000906 name: abnormal trigeminal V mesencephalic nucleus morphology def: "any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve" [ISBN:0-683-40008-8] synonym: "abnormal mesencephalic trigeminal nucleus morphology" EXACT [] xref: MA:0001057 is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0000907 name: small mesencephalic trigeminal nucleus def: "reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000906 ! abnormal trigeminal V mesencephalic nucleus morphology [Term] id: MP:0000908 name: absent mesencephalic trigeminal nucleus def: "missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve" [ISBN:0-683-40008-8, PMID:7958926] is_a: MP:0000906 ! abnormal trigeminal V mesencephalic nucleus morphology [Term] id: MP:0000909 name: abnormal facial motor nucleus morphology def: "any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression" [ISBN:0838580343] synonym: "abnormal motor nucleus, facial" EXACT [] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0000910 name: small facial motor nucleus def: "reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression" [ISBN:0838580343, J:56847] synonym: "small motor nucleus, facial" EXACT [] is_a: MP:0000909 ! abnormal facial motor nucleus morphology [Term] id: MP:0000911 name: abnormal trigeminal motor nucleus morphology def: "any structural anomaly of the group of motor neurons innervating the muscles of mastication" [ISBN:0-683-40008-8] synonym: "abnormal motor nucleus, trigeminal morphology" EXACT [] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0000912 name: small trigeminal motor nucleus def: "reduced size of the group of motor neurons innervating the muscles of mastication" [ISBN:0-683-40008-8, J:18984] synonym: "small motor nucleus, trigeminal" EXACT [] is_a: MP:0000911 ! abnormal trigeminal motor nucleus morphology [Term] id: MP:0000913 name: abnormal brain development alt_id: MP:0001888 def: "aberrant or incomplete differentiation of the brain" [MGI:csmith, PMID:9753320] synonym: "brain development abnormalities" EXACT [] xref: GO:0007420 is_a: MP:0002152 ! abnormal brain morphology is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0000914 name: exencephaly def: "neurocranial defects resulting in exposure or extrusion of the brain" [ISBN:0-683-40008-8, PMID:9753320] subset: Sanger_Terms synonym: "cranial hernia" EXACT [] synonym: "exencephalia" EXACT [] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0000917 name: obstructive hydrocephaly alt_id: MP:0001892 def: "hydrocephaly due to a block in cerebrospinal fluid flow in the ventricular system" [ISBN:0-683-40008-8, MGI:csmith] synonym: "obstructive hydrocephalus" EXACT [] is_a: MP:0001891 ! hydroencephaly [Term] id: MP:0000919 name: cranioschisis def: "incomplete closure of the skull, usually congenital" [ISBN:0-683-40008-8] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000920 name: abnormal myelination alt_id: MP:0001894 alt_id: MP:0010051 def: "any anomaly in the process by which myelin sheaths are formed and maintained around neurons; oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane" [GO:0042552, MGI:csmith] synonym: "absence of myelination" NARROW [] synonym: "absent myelination" NARROW [] synonym: "altered myelination" EXACT [] synonym: "myelination abnormalities" EXACT [] synonym: "myelination defect" EXACT [] xref: GO:0042552 is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0000921 name: demyelination alt_id: MP:0010049 def: "a partial absence or patchy, incomplete area of a myelin sheath over all or part of an axon or fiber tract" [MGI:csmith] synonym: "decreased myelination" EXACT [] synonym: "hypomyelination" EXACT [] synonym: "reduced myelination" EXACT [] is_a: MP:0000920 ! abnormal myelination [Term] id: MP:0000923 name: abnormal roof plate morphology def: "any structural anomaly of a transient group of neuroepithelial cells located at the dorsal midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [MGI:csmith] synonym: "roof plate abnormalities" BROAD [] synonym: "roof plate dysplasia" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0000924 name: absent roof plate def: "missing thin layer of the embryonic neural tube connecting the dorsal side" [J:41814] synonym: "absence of roof plate" EXACT [] is_a: MP:0000923 ! abnormal roof plate morphology [Term] id: MP:0000925 name: abnormal floor plate morphology def: "any structural anomaly of a transient group of neuroepithelial cells located at the ventral midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [MGI:csmith] synonym: "abnormal floorplate morphology" EXACT [] synonym: "floor plate abnormalities" BROAD [] synonym: "floor plate dysplasia" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0000926 name: absent floor plate def: "missing ventral midline thinning of the developing neural tube" [ISBN:0-683-40008-8, PMID:8837770] synonym: "absent floorplate" EXACT [] is_a: MP:0000925 ! abnormal floor plate morphology [Term] id: MP:0000927 name: small floor plate def: "reduced size of the floor plate" [ISBN:0-683-40008-8] synonym: "small floorplate" EXACT [] is_a: MP:0000925 ! abnormal floor plate morphology [Term] id: MP:0000928 name: incomplete cephalic closure def: "arrest of the fusion of the cephalic neural folds" [J:12622] synonym: "incomplete anterior cephalic closure" RELATED [] synonym: "incomplete cranial neural fold fusion" EXACT [] synonym: "incomplete head fold fusion" BROAD [] synonym: "incomplete headfold fusion" RELATED [] synonym: "incomplete rostral neural tube closure" RELATED [] synonym: "open anterior neuropore" EXACT [] is_a: MP:0003720 ! abnormal neural tube closure is_a: MP:0011259 ! abnormal cephalic neural fold morphology [Term] id: MP:0000929 name: open neural tube alt_id: MP:0000931 alt_id: MP:0005436 def: "failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline" [J:62571, MGI:csmith, PMID:9949198] synonym: "failure of neural tube closure" EXACT [] synonym: "hydrocele spinalis" EXACT [] synonym: "schistorrhachis" EXACT [] synonym: "spina bifida" BROAD [] is_a: MP:0003720 ! abnormal neural tube closure [Term] id: MP:0000930 name: wavy neural tube def: "undulations in the embryonic neural tube" [J:37888] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0000932 name: absent notochord def: "missing axial fibrocellular cord in embryos around which develops the vertebral primordia" [ISBN:0-683-40008-8, J:12622] synonym: "absence of notochord" EXACT [] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0000933 name: abnormal rhombomere morphology def: "any structural anomaly of the transverse segments in the hindbrain region of the developing neural tube" [ISBN:0-683-40008-8, PMID:1346922] synonym: "abnormal rhombomeres" BROAD [] synonym: "rhombomere dysplasia" EXACT [] is_a: MP:0003208 ! abnormal neuromere morphology is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0000934 name: abnormal telencephalon development def: "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0003232 ! abnormal forebrain development [Term] id: MP:0000935 name: abnormal folding of telencephalic vesicles def: "malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0000936 name: small telencephalic vesicles def: "reduced size of the paired diverticula of the telencephalon, from which the forebrain develops" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0000937 name: abnormal motor neuron morphology def: "any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal motoneuron morphology" EXACT [] synonym: "abnormal motor neurons" BROAD [] synonym: "motor neuron abnormalities" BROAD [] synonym: "motor neuron dysplasia" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology is_a: MP:0008503 ! abnormal spinal cord grey matter morphology [Term] id: MP:0000938 name: motor neuron degeneration def: "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses" [MGI:csmith] synonym: "loss of motor neurons" EXACT [] synonym: "motoneuron degeneration" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0000939 name: decreased motor neuron number def: "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased motoneuron number" EXACT [] synonym: "reduced motor neuron number" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0000940 name: abnormal motor neuron innervation def: "any misprojection or failure to bundle motor axons to an effector motor tissue, or failure of refinement of neuronal connections during development" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal motoneuron innervation" EXACT [] synonym: "abnormal motor neuron projections" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0000941 name: failure of motor neuron target finding def: "OBSOLETE. failure of an innervating motor neuron to stop at target site and form terminal arbors" [] synonym: "failure of motoneuron target finding" EXACT [] is_obsolete: true consider: MP:0000940 [Term] id: MP:0000942 name: excessive motor neuron axon growth def: "OBSOLETE. innervating motor neuron projections grow past typical endplate target and extend to myotendenous ends of muscle" [] synonym: "excessive motoneuron axon growth" EXACT [] synonym: "excessive motor neuron growth" EXACT [] is_obsolete: true consider: MP:0000940 [Term] id: MP:0000944 name: Reduced Olfactory mitral Cells def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0009954 [Term] id: MP:0000947 name: convulsive seizures alt_id: MP:0001494 def: "seizures characterized by uncontrolled motor activity" [ISBN:0-683-40008-8, MGI:csmith] subset: Sanger_Terms synonym: "convulsions" EXACT [] synonym: "Convulsive" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0000948 name: nonconvulsive seizures alt_id: MP:0001495 def: "seizures without uncontrolled motor activity, but with impairment of consciousness" [ISBN:0-683-40008-8, MGI:csmith] synonym: "Nonconvulsive" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0000950 name: abnormal seizure response to pharmacological agent alt_id: MP:0001497 def: "anomaly in the seizure activity response that is brought about by treatment with pharmacological agents" [MGI:csmith] synonym: "pharmacologically induced seizures" RELATED [] is_a: MP:0009357 ! abnormal seizure response to inducing agent is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0000951 name: sporadic seizures alt_id: MP:0001498 def: "occasional seizures occurring at irregular intervals" [MGI:csmith] synonym: "spontaneous seizures" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0000952 name: abnormal CNS glial cell morphology def: "any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MESH:A08.637] synonym: "abnormal CNS glia" BROAD [] synonym: "abnormal CNS glia morphology" EXACT [] synonym: "CNS glia abnormalities" BROAD [] is_a: MP:0003634 ! abnormal glial cell morphology [Term] id: MP:0000953 name: abnormal oligodendrocyte morphology def: "any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600] synonym: "abnormal oligodendrocytes" BROAD [] synonym: "abnormal oligodendroglia" BROAD [] synonym: "abnormal oligodendroglial cell morphology" EXACT [] synonym: "abnormal oligoglia" BROAD [] synonym: "abnormal oligoglial cell morphology" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology [Term] id: MP:0000954 name: decreased oligodendrocyte progenitor number def: "fewer cells that differentiate into a type of glial cell in the central nervous system" [J:15108] synonym: "decreased oligodendrocyte precursor number" EXACT [] synonym: "reduced oligodendrocyte progenitor number" EXACT [] synonym: "reduced oligodendrocyte progenitor numbers" EXACT [] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0000955 name: abnormal spinal cord morphology def: "any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [MGI:csmith] synonym: "spinal cord abnormalities" BROAD [] synonym: "spinal cord dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0000956 name: decreased spinal cord size def: "smaller appearance of the spinal cord" [PMID:8837770] synonym: "reduced spinal cord size" EXACT [] synonym: "small spinal cord" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0000958 name: peripheral nervous system degeneration def: "a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord" [ISBN:0838580343, MGI:csmith] synonym: "degeneration of peripheral nervous system" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0000959 name: abnormal somatic sensory system morphology def: "any structural anomaly of the neural tissue involved in the transmission of sensory signals" [MGI:csmith] synonym: "somatic sensory system abnormalities" BROAD [] synonym: "somatic sensory system dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0000960 name: abnormal sensory ganglion morphology def: "any structural anomaly of the clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells" [MESH:A08.340.390, MGI:csmith] synonym: "abnormal sensory ganglia" BROAD [] synonym: "sensory ganglia abnormalities" BROAD [] synonym: "sensory ganglion dysplasia" EXACT [] is_a: MP:0000959 ! abnormal somatic sensory system morphology [Term] id: MP:0000961 name: abnormal dorsal root ganglion morphology alt_id: MP:0001104 def: "any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340, MGI:csmith] synonym: "abnormal dorsal root ganglia" BROAD [] synonym: "abnormal dorsal root ganglion dysplasia" EXACT [] synonym: "abnormal DRGs" BROAD [] synonym: "abnormal spinal ganglia" BROAD [] synonym: "abnormal spinal ganglion dysplasia" EXACT [] synonym: "abnormal spinal ganglion morphology" EXACT [] synonym: "dorsal root ganglia abnormalities" BROAD [] synonym: "spinal ganglia abnormalities" BROAD [] is_a: MP:0000960 ! abnormal sensory ganglion morphology [Term] id: MP:0000962 name: disorganized dorsal root ganglion def: "loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia" [PMID:10804168, PMID:10804169] synonym: "disorganized dorsal root ganglia" EXACT [] synonym: "disorganized DRG" EXACT [] synonym: "disorganized spinal ganglia" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0000963 name: fused dorsal root ganglion def: "loss of DRG spacing pattern and the appearance of two or more ganglia as one" [PMID:10804168, PMID:10804169] synonym: "fused dorsal root ganglia" EXACT [] synonym: "fused DRG" EXACT [] synonym: "fused spinal ganglia" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0000964 name: small dorsal root ganglion def: "reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340] synonym: "decreased dorsal root ganglion size" EXACT [] synonym: "reduced dorsal root ganglion size" EXACT [] synonym: "small DRG" EXACT [] synonym: "small spinal ganglion" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0000965 name: abnormal sensory neuron morphology def: "any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal sensory neurons" BROAD [] is_a: MP:0000959 ! abnormal somatic sensory system morphology is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0000966 name: decreased sensory neuron number def: "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses" [ISBN:0-683-40008-8, MGI:csmith] synonym: "reduced sensory neuron number" EXACT [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0000967 name: abnormal sensory neuron projections def: "misprojection or failure to bundle sensory axons to an effector tissue or to the spinal cord" [ISBN:0-683-40008-8, J:60159] is_a: MP:0000968 ! abnormal sensory neuron innervation pattern [Term] id: MP:0000968 name: abnormal sensory neuron innervation pattern def: "any changes in the placement, morphology or number of nerve fibers to sensory termini or to spinal cord" [J:31622] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0000969 name: abnormal nociceptor morphology def: "any structural anomaly of any of the peripheral receptors for pain, including receptors sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli" [MESH:A08.800.550.700.650] synonym: "abnormal nociceptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000970 name: abnormal polymodal receptor morphology def: "anomaly in a sensory receptor that may be stimulated by mechanical, thermal or chemical means" [ISBN:0838580343] synonym: "abnormal polymodal receptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000971 name: abnormal thermoreceptor morphology def: "any structural anomaly of any of the cellular receptors that mediate the sense of temperature; in vertebrates, these are most often located under the skin" [MESH:A08.800.550.700.840] synonym: "abnormal thermal receptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000972 name: abnormal mechanoreceptor morphology def: "anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion" [ISBN:0-683-40008-8] synonym: "abnormal mechanoreceptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000973 name: abnormal cutaneous/subcutaneous mechanoreceptor morphology def: "any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin" [ISBN:0-683-40008-8] synonym: "abnormal cutaneous/subcutaneous mechanoreceptors" BROAD [] is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0000974 name: abnormal hair guard neuron morphology def: "anomaly of the subcutaneous mechanoreceptors that innervate guard hairs" [J:49472] synonym: "abnormal hair guard neurons" BROAD [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000975 name: absent hair guard neurons def: "missing the subcutaneous mechanoreceptors that innervate guard hairs" [J:49472] is_a: MP:0000974 ! abnormal hair guard neuron morphology [Term] id: MP:0000976 name: hyperinnervation of hair guard cells def: "more robust innervation of the hair guard cells" [J:65163] is_a: MP:0000974 ! abnormal hair guard neuron morphology [Term] id: MP:0000977 name: abnormal hair-tylotrich neuron morphology def: "anomaly of the subcutaneous mechanoreceptors that innervate tylotrich hair follicles" [MGI:csmith] synonym: "abnormal hair-tylotrich neurons" BROAD [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000978 name: hyperinnervation of hair-tylotrich cells def: "more robust innervation of the hair tylotrich cells" [MGI:csmith] is_a: MP:0000977 ! abnormal hair-tylotrich neuron morphology [Term] id: MP:0000979 name: abnormal hair-down neuron morphology def: "anomaly of the subcutaneous mechanoreceptors that innervate vellus hairs" [J:49472] synonym: "abnormal D-hair receptors" BROAD [] synonym: "abnormal hair-down neurons" BROAD [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000980 name: absent hair-down neurons def: "absence of the subcutaneous mechanoreceptors that innervate vellus hairs" [J:49472] synonym: "loss of hair-down neurons" BROAD [] is_a: MP:0000979 ! abnormal hair-down neuron morphology [Term] id: MP:0000981 name: hyperinnervation of hair-down cells def: "more robust innervation of the hair down cells" [J:65163] is_a: MP:0000979 ! abnormal hair-down neuron morphology [Term] id: MP:0000982 name: abnormal Meissner's corpuscle morphology def: "any structural anomaly of any of the numerous oval bodies found in the dermal papillae of thick skin; believed to be mechanoreceptors for tactile sensation" [ISBN:0-683-40008-8] synonym: "abnormal oval corpuscle morphology" EXACT [] synonym: "abnormal touch corpuscle morphology" EXACT [] synonym: "Meissner's corpuscle dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000983 name: enlarged Meissner's corpuscles def: "larger than average size of the dermal mechanoreceptors for tactile sensation" [J:65163] synonym: "enlarged oval corpuscle" EXACT [] synonym: "enlarged touch corpuscle" EXACT [] is_a: MP:0000982 ! abnormal Meissner's corpuscle morphology [Term] id: MP:0000984 name: hyperinnervation of Meissner's corpuscle def: "more robust supply of nerve fibers connected to any part of the numerous oval bodies found in the dermal papillae of thick skin and which are believed to be mechanoreceptors for tactile sensation" [ISBN:0-683-40008-8] is_a: MP:0000982 ! abnormal Meissner's corpuscle morphology [Term] id: MP:0000985 name: abnormal Merkel's receptor morphology def: "any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute" [MESH:A08.800.550.700.500.425] synonym: "abnormal Merkel cells" BROAD [] synonym: "abnormal Merkel receptors" BROAD [] synonym: "Merkel's receptor dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000986 name: increased Merkel's receptor number def: "greater than the normal number of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute" [MESH:A08.800.550.700.500.425] synonym: "increased Merkel cell number" EXACT [] synonym: "increased Merkel receptor number" EXACT [] synonym: "increased numbers of Merkel's receptors" EXACT [] is_a: MP:0000985 ! abnormal Merkel's receptor morphology is_a: MP:0006006 ! increased sensory neuron number [Term] id: MP:0000987 name: hyperinnervation of Merkel's receptor def: "more robust supply of nerve fibers connected to the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute" [MESH:A08.800.550.700.500.425, MGI:cwg] synonym: "hyperinnervation of Merkel cells" EXACT [] synonym: "hyperinnervation of Merkel receptors" EXACT [] is_a: MP:0000985 ! abnormal Merkel's receptor morphology [Term] id: MP:0000988 name: abnormal pacinian corpuscle morphology def: "any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers" [MESH:A08.800.550.700.500.700] synonym: "pacinian corpuscle dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000989 name: abnormal Ruffini's corpuscle morphology def: "any structural anomaly in the sensory cells in the subcutaneous tissue of the digits specialized to transduce mechanical stimuli" [ISBN:0-683-40008-8] synonym: "Ruffini's corpuscle dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000990 name: abnormal skeletal muscle mechanoreceptor morphology def: "any structural anomaly of the receptors that respond to mechanical pressure or distortion in the skeletal muscle" [ISBN:0-683-40008-8] synonym: "abnormal muscle/skeletal mechanoreceptors" BROAD [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0000991 name: abnormal primary muscle spindle morphology def: "any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and sensitive to stretch velocity" [ISBN:0838580343] synonym: "abnormal muscle spindle-primary morphology" EXACT [] is_a: MP:0004069 ! abnormal muscle spindle morphology [Term] id: MP:0000992 name: absent primary muscle spindle def: "missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity" [ISBN:0838580343] synonym: "absent muscle spindle -primary" EXACT [] is_a: MP:0000991 ! abnormal primary muscle spindle morphology [Term] id: MP:0000993 name: partial loss of primary muscle spindle def: "missing a portion of the sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity" [ISBN:0838580343] synonym: "partial loss of muscle spindle-primary" EXACT [] is_a: MP:0000991 ! abnormal primary muscle spindle morphology [Term] id: MP:0000994 name: abnormal secondary muscle spindle morphology def: "any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and not sensitive to stretch velocity" [ISBN:0838580343] synonym: "abnormal muscle spindle-secondary" EXACT [] is_a: MP:0004069 ! abnormal muscle spindle morphology [Term] id: MP:0000995 name: absent secondary muscle spindle def: "missing sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity" [ISBN:0-471-31639-3, J:23882] synonym: "absent muscle spindle -secondary" EXACT [] is_a: MP:0000994 ! abnormal secondary muscle spindle morphology [Term] id: MP:0000996 name: partial loss of secondary muscle spindle def: "missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity" [ISBN:0-471-31639-3] synonym: "partial loss of muscle spindle-secondary" EXACT [] is_a: MP:0000994 ! abnormal secondary muscle spindle morphology [Term] id: MP:0000997 name: abnormal joint capsule morphology def: "any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint" [ISBN:0-683-40008-8] synonym: "abnormal synovial space morphology" NARROW [] synonym: "joint capsule dysplasia" EXACT [] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0000998 name: absent joint capsule def: "missing sac that encloses the articulating ends of bones participating in a synovial joint" [ISBN:0-683-40008-8] is_a: MP:0000997 ! abnormal joint capsule morphology [Term] id: MP:0000999 name: abnormal golgi tendon organ morphology def: "any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension" [ISBN:0838580343] synonym: "abnormal neurotendinous organ morphology" EXACT [] synonym: "abnormal neurotendinous spindle morphology" EXACT [] synonym: "golgi tendon organ dysplasia" EXACT [] is_a: MP:0000990 ! abnormal skeletal muscle mechanoreceptor morphology [Term] id: MP:0001000 name: absent golgi tendon organ def: "missing sensory organ in muscle that is involved in regulating muscle tension" [ISBN:0838580343] synonym: "absent neurotendinous organ" EXACT [] synonym: "absent neurotendinous spindle" EXACT [] is_a: MP:0000999 ! abnormal golgi tendon organ morphology [Term] id: MP:0001001 name: abnormal chemoreceptor morphology def: "any structural anomaly of any of the cells specialized to detect chemical substances and relay that information centrally in the nervous system" [MESH:A08.800.550.700.120] synonym: "abnormal chemoreceptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0001002 name: abnormal taste bud morphology def: "any structural anomaly of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells" [MESH:A03.556.500.885.779, MGI:cwg] synonym: "abnormal taste buds" BROAD [] synonym: "taste bud dysplasia" EXACT [] is_a: MP:0005500 ! abnormal gustatory system morphology [Term] id: MP:0001003 name: abnormal olfactory receptor morphology def: "any structural anomaly of the proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the specialized neurons of the olfactory epithelium" [MESH:D12.776.543.750.100.600, MGI:cwg] synonym: "abnormal odorant receptors" BROAD [] is_a: MP:0005499 ! abnormal olfactory system morphology is_a: MP:0006092 ! abnormal olfactory neuron morphology [Term] id: MP:0001004 name: abnormal retinal photoreceptor morphology def: "any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A.08.663.650.650] synonym: "abnormal photoreceptors" BROAD [] xref: CL:0000210 is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0003728 ! abnormal retinal photoreceptor layer morphology [Term] id: MP:0001005 name: abnormal retinal rod cell morphology def: "any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision" [MESH:A08.663.650.650.670.650] synonym: "abnormal rod morphology" BROAD [] synonym: "abnormal rods" BROAD [] xref: CL:0000604 is_a: MP:0001004 ! abnormal retinal photoreceptor morphology [Term] id: MP:0001006 name: abnormal retinal cone cell morphology def: "any structural anomaly of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision" [MESH:A08.663.650.650.670.100] synonym: "abnormal cone morphology" BROAD [] synonym: "abnormal cone photoreceptor morphology" EXACT [] synonym: "abnormal cones" BROAD [] xref: CL:0000573 is_a: MP:0001004 ! abnormal retinal photoreceptor morphology [Term] id: MP:0001007 name: abnormal sympathetic system morphology def: "any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations" [ISBN:0-683-40008-8, MESH:A08.800.050.800] synonym: "abnormal adrenergic system morphology" EXACT [] synonym: "abnormal somatic sympathetic system morphology" EXACT [] synonym: "abnormal thoracolumbar system morphology" EXACT [] synonym: "sympathetic system abnormalities" BROAD [] synonym: "sympathetic system dysplasia" EXACT [] is_a: MP:0002751 ! abnormal autonomic nervous system morphology [Term] id: MP:0001008 name: abnormal sympathetic ganglion morphology def: "any structural anomaly of the ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia" [MESH:A08.340.315.350] synonym: "abnormal sympathetic ganglia morphology" EXACT [] synonym: "sympathetic ganglia abnormalities" BROAD [] synonym: "sympathetic ganglion dysplasia" EXACT [] is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0001009 name: paravertebral ganglia hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, of the groups of postsynaptic neurons located at intervals along the sympathetic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia" [ISBN:0-683-40008-8] synonym: "hyperplastic paravertebral ganglia" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001010 name: prevertebral ganglia hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia" [ISBN:0-683-40008-8] synonym: "hyperplastic prevertebral ganglia" EXACT [] is_a: MP:0008316 ! abnormal prevertebral ganglion morphology [Term] id: MP:0001011 name: abnormal superior cervical ganglion morphology def: "any structural anomaly of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [ISBN:0-683-40008-8] synonym: "abnormal ganglion cervicale superius morphology" EXACT [] synonym: "abnormal superior cervical ganglia" BROAD [] synonym: "superior cervical ganglion dysplasia" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001012 name: superior cervical ganglion hypertrophy def: "increase in the size of cells in the superior cervical ganglion" [J:34172] synonym: "ganglion cervicale superius hypertrophy" EXACT [] synonym: "hypertrophic superior cervical ganglion" EXACT [] synonym: "hypertrophy of superior cervical ganglion" EXACT [] is_a: MP:0001013 ! enlarged superior cervical ganglion [Term] id: MP:0001013 name: enlarged superior cervical ganglion def: "increased size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [J:17131] synonym: "enlarged ganglion cervicale superius" EXACT [] synonym: "increased superior cervical ganglion size" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0001014 name: absent superior cervical ganglion def: "missing group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [ISBN:0-683-40008-8, J:17792] synonym: "absence of superior cervical ganglion" EXACT [] synonym: "absent ganglion cervicale superius" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0001015 name: small superior cervical ganglion def: "reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [J:23882] synonym: "decreased superior cervical ganglion size" EXACT [] synonym: "reduced superior cervical ganglion size" EXACT [] synonym: "small ganglion cervicale superius" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0001016 name: abnormal middle cervical ganglion morphology def: "any structural anomaly of the small ganglion located at the level of the cricoid cartilage of the laryngeal wall" [ISBN:0-683-40008-8] synonym: "abnormal middle cervical ganglia morphology" BROAD [] synonym: "middle cervical ganglion dysplasia" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001017 name: abnormal stellate ganglion morphology def: "any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia" [ISBN:0-683-40008-8, MESH:A08.340.315.350.800] synonym: "abnormal cervicothoracic ganglion morphology" EXACT [] synonym: "abnormal stellate ganglia morphology" EXACT [] synonym: "stellate ganglion dysplasisa" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001018 name: abnormal adrenal gland ganglion def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001019 name: abnormal L4 dorsal root ganglion morphology alt_id: MP:0006406 def: "any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra" [MGI:csmith] synonym: "abnormal L4 dorsal root ganglia" BROAD [] synonym: "abnormal L4 DRG morphology" EXACT [] synonym: "abnormal L4 ganglion morphology" EXACT [] synonym: "abnormal L4 sympathetic ganglia morphology" EXACT [] synonym: "abnormal L4 sympathetic ganglion morphology" EXACT [] synonym: "L4 dorsal root ganglion dysplasia" EXACT [] synonym: "L4 ganglion dysplasia" EXACT [] is_a: MP:0006404 ! abnormal lumbar dorsal root ganglion morphology [Term] id: MP:0001020 name: L4 dorsal root ganglion hypertrophy def: "increased bulk size of the L4 spinal ganglion" [J:34172] synonym: "hypertrophy of L4 ganglion" EXACT [] synonym: "L4 DRG ganglion hypertrophy" EXACT [] synonym: "L4 ganglia hypertrophy" EXACT [] is_a: MP:0001019 ! abnormal L4 dorsal root ganglion morphology [Term] id: MP:0001021 name: small L4 dorsal root ganglion def: "reduced size of the L4 spinal ganglion" [J:17792] synonym: "small L4 dorsal root ganglia" EXACT [] synonym: "small L4 DRG ganglion" EXACT [] is_a: MP:0001019 ! abnormal L4 dorsal root ganglion morphology [Term] id: MP:0001022 name: abnormal L5 dorsal root ganglion morphology alt_id: MP:0006407 def: "any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra" [MGI:csmith] synonym: "abnormal L5 dorsal root ganglia morphology" EXACT [] synonym: "abnormal L5 DRG morphology" EXACT [] synonym: "abnormal L5 ganglion morphology" EXACT [] synonym: "abnormal L5 sympathetic ganglia morphology" EXACT [] synonym: "abnormal L5 sympathetic ganglion morphology" EXACT [] synonym: "L5 dorsal root ganglion dysplasia" EXACT [] synonym: "L5 ganglion dysplasia" EXACT [] is_a: MP:0006404 ! abnormal lumbar dorsal root ganglion morphology [Term] id: MP:0001023 name: L5 dorsal root ganglion hypertrophy def: "increased bulk size of L5 spinal ganglion" [J:34172] synonym: "hypertrophy of L5 ganglion" EXACT [] synonym: "L5 dorsal root ganglia hypertrophy" EXACT [] synonym: "L5 DRG hypertrophy" EXACT [] is_a: MP:0001022 ! abnormal L5 dorsal root ganglion morphology [Term] id: MP:0001024 name: small L5 dorsal root ganglion def: "reduced size of the L5 spinal ganglion" [J:17792] synonym: "small L5 dorsal root ganglia" EXACT [] synonym: "small L5 DRG" EXACT [] is_a: MP:0001022 ! abnormal L5 dorsal root ganglion morphology [Term] id: MP:0001025 name: abnormal sympathetic neuron morphology def: "any structural anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations" [MESH:A08.800.050.800] synonym: "abnormal sympathetic neurons" BROAD [] synonym: "sympathetic neuron abnormalities" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0001026 name: abnormal adrenergic neuron morphology def: "any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci" [ISBN:070202788] synonym: "abnormal adrenergic neurons" BROAD [] synonym: "adrenergic neuron abnormalities" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001027 name: abnormal adrenergic innervation def: "OBSOLETE." [MGI:csmith] synonym: "adrenergic innervation abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0001028 name: adrenergic hyperinnervation of muscle def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001031 name: cholinergic hyperinnervation of muscle def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001032 name: abnormal peptidergic neuron morphology def: "any structural anomaly of the nerve fibers that release small peptides as their neurotransmitter" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal peptidergic neurons" BROAD [] synonym: "peptidergic neuron abnormalities" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001033 name: abnormal parasympathetic system morphology def: "any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system" [ISBN:0-683-40008-8, MESH:A08.800.050.600] synonym: "abnormal cholinergic system morphology" EXACT [] synonym: "abnormal craniosacral system morphology" EXACT [] synonym: "abnormal somatic parasympathetic system morphology" EXACT [] synonym: "parasympathetic system abnormalities" BROAD [] synonym: "parasympathetic system dysplasia" EXACT [] is_a: MP:0002751 ! abnormal autonomic nervous system morphology [Term] id: MP:0001034 name: abnormal parasympathetic ganglion morphology def: "any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen" [MESH:A08.340.315.300] synonym: "abnormal parasympathetic ganglia" BROAD [] synonym: "parasympathetic ganglion dysplasia" EXACT [] is_a: MP:0001033 ! abnormal parasympathetic system morphology [Term] id: MP:0001035 name: abnormal submandibular ganglion morphology def: "any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands" [ISBN:0-683-40008-8] synonym: "abnormal submandibular ganglia" BROAD [] synonym: "abnormal submaxillary ganglion morphology" EXACT [] synonym: "submandibular ganglion dysplasia" EXACT [] xref: MA:0002470 is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology [Term] id: MP:0001036 name: small submandibular ganglion def: "reduced size of the small parasympathetic ganglion of the lingual nerve" [ISBN:0-683-40008-8, J:53284] synonym: "small submandibular ganglia" EXACT [] synonym: "small submaxillary ganglion" EXACT [] is_a: MP:0001035 ! abnormal submandibular ganglion morphology [Term] id: MP:0001037 name: abnormal parasympathetic neuron morphology def: "any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands" [MESH:A08.800.050.600] synonym: "abnormal parasympathetic neurons" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001033 ! abnormal parasympathetic system morphology [Term] id: MP:0001038 name: abnormal cholinergic neuron morphology alt_id: MP:0001029 def: "any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter, including include alpha-motor neurons of the spinal cord, cranial nerves innervating skeletal muscle, preganglionic sympathetic and postganglionic parasympathetic neurons" [ISBN:070202788, ISBN:0838580343] synonym: "cholinergic neuron abnormalities" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001039 name: abnormal cholinergic innervation alt_id: MP:0001030 def: "OBSOLETE. malformation or absence of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter" [ISBN:0838580343] synonym: "cholinergic innervation abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0001040 name: deficient enteric cholinergic innervation alt_id: MP:0001050 def: "defective or incomplete supply of nerve fibers to the intestinal system that utilize acetylcholine as a neurotransmitter" [J:53284] is_a: MP:0001049 ! abnormal enteric cholinergic innervation [Term] id: MP:0001041 name: absent lacrimal gland cholinergic innervation def: "OBSOLETE. missing supply of nerve fibers to the gland that secretes tears" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001042 name: absent sublingual salivary gland cholinergic innervation def: "OBSOLETE. missing supply of nerve fibers to the exocrine gland on the floor of the mouth that secretes saliva" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001043 name: absent parotid salivary gland cholinergic innervation def: "OBSOLETE. missing supply of nerve fibers to the exocrine gland lateral to the jaw that secretes saliva" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001044 name: abnormal enteric nervous system morphology def: "any structural anomaly of the part of the autonomic nervous system that innervates the gastrointestinal tract, the pancreas, and the gallbladder and can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport" [MESH:A08.800.050.150, MGI:csmith] synonym: "enteric nervous system abnormalities" BROAD [] synonym: "enteric nervous system dysplasia" EXACT [] is_a: MP:0002751 ! abnormal autonomic nervous system morphology [Term] id: MP:0001045 name: abnormal enteric ganglia morphology def: "any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons" [MGI:csmith] synonym: "abnormal enteric ganglia" BROAD [] synonym: "enteric ganglion dysplasia" EXACT [] is_a: MP:0001044 ! abnormal enteric nervous system morphology [Term] id: MP:0001046 name: abnormal enteric neuron morphology def: "any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel" [MGI:csmith] synonym: "abnormal enteric neurons" BROAD [] is_a: MP:0001044 ! abnormal enteric nervous system morphology is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001047 name: abnormal enteric cholinergic neuron morphology def: "any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel" [ISBN:0838580343] synonym: "abnormal enteric cholinergic neurons" BROAD [] is_a: MP:0001038 ! abnormal cholinergic neuron morphology is_a: MP:0001046 ! abnormal enteric neuron morphology [Term] id: MP:0001048 name: absent enteric neurons def: "absence of the neurons that innervate the esophagus, stomach, small and large bowel" [ISBN:0838580343, J:49471] synonym: "absence of enteric neurons" EXACT [] is_a: MP:0001046 ! abnormal enteric neuron morphology [Term] id: MP:0001049 name: abnormal enteric cholinergic innervation def: "any structural anomaly of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter to the intestinal system" [ISBN:0-683-40008-8] is_a: MP:0001047 ! abnormal enteric cholinergic neuron morphology [Term] id: MP:0001051 name: abnormal somatic motor system morphology def: "any structural anomaly of the neural tissue involved in the transmission of motor signals" [MGI:csmith] synonym: "somatic motor system abnormalities" EXACT [] synonym: "somatic motor system dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001052 name: abnormal muscle innervation def: "malformation or misprojection of sensory or motor nerves to targets in muscle" [J:75958] synonym: "muscle innervation abnormalities" EXACT [] is_a: MP:0001051 ! abnormal somatic motor system morphology is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0001053 name: abnormal neuromuscular synapse morphology def: "any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal neuromuscular junction morphology" EXACT [] synonym: "abnormal NMJ morphology" EXACT [] synonym: "neuromuscular synapse abnormalities" BROAD [] is_a: MP:0001051 ! abnormal somatic motor system morphology is_a: MP:0009538 ! abnormal synapse morphology [Term] id: MP:0001054 name: failure of neuromuscular synapse presynaptic differentiation def: "inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse" [PMID:10742104] is_a: MP:0001053 ! abnormal neuromuscular synapse morphology [Term] id: MP:0001055 name: failure of neuromuscular synapse postsynaptic differentiation def: "inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse" [PMID:10742104] is_a: MP:0001053 ! abnormal neuromuscular synapse morphology [Term] id: MP:0001056 name: abnormal cranial nerve morphology def: "any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves" [ISBN:0-683-40008-8, MGI:csmith, PMID:9362461] synonym: "abnormal cranial nerves" BROAD [] synonym: "cranial nerve abnormalities" BROAD [] synonym: "cranial nerve dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001059 name: optic nerve atrophy alt_id: MP:0001331 def: "acquired diminution of the size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "atrophic optic nerve" EXACT [] synonym: "atrophy of optic nerve" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0001061 name: abnormal oculomotor nerve morphology def: "any structural anomaly of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye; and also sends parasympathetic efferents to the muscles controlling pupillary constriction and accommodation" [MESH:A08.800.800.120.600, MGI:cwg] synonym: "abnormal CN-III morphology" EXACT [] synonym: "oculomotor nerve abnormalities" BROAD [] synonym: "oculomotor nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001062 name: absent oculomotor nerve def: "missing nerve of the extraocular muscles, iris and ciliary body" [ISBN:0-683-40008-8, PMID:7925010] synonym: "absence of oculomotor nerve" EXACT [] synonym: "absent CN-III nerve" EXACT [] is_a: MP:0001061 ! abnormal oculomotor nerve morphology [Term] id: MP:0001063 name: abnormal trochlear nerve morphology def: "any structural anomaly of the 4th cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye" [MESH:A08.800.800.120.800, MGI:cwg] synonym: "abnormal CN-IV morphology" EXACT [] synonym: "trochlear nerve abnormalities" BROAD [] synonym: "trochlear nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001064 name: absent trochlear nerve def: "missing nerve of the superior oblique muscle" [ISBN:0-683-40008-8, PMID:7925010] synonym: "absence of trochlear nerve" EXACT [] synonym: "absent CN-IV nerve" EXACT [] is_a: MP:0001063 ! abnormal trochlear nerve morphology [Term] id: MP:0001065 name: abnormal trigeminal nerve morphology def: "any structural anomaly of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular" [ISBN:0-683-40008-8, ISBN:0838580343] synonym: "abnormal CN-V morphology" EXACT [] synonym: "trigeminal nerve abnormalities" BROAD [] synonym: "trigeminal nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001066 name: absent trigeminal nerve def: "missing chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular" [ISBN:0-683-40008-8, J:33038] synonym: "absence of trigeminal nerve" EXACT [] synonym: "absent CN-V nerve" EXACT [] is_a: MP:0001065 ! abnormal trigeminal nerve morphology [Term] id: MP:0001067 name: absent mandibular nerve def: "missing third division of the trigeminal nerve" [ISBN:0-683-40008-8, J:33038] synonym: "absence of mandibular nerve" EXACT [] is_a: MP:0001066 ! absent trigeminal nerve [Term] id: MP:0001068 name: abnormal mandibular nerve branching def: "malformed or misprojected axons of the mandibular nerve" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal branching of mandibular nerve" EXACT [] is_a: MP:0009800 ! abnormal mandibular nerve morphology [Term] id: MP:0001069 name: absent trigeminal nerve connections to hindbrain def: "missing axonal connection from the trigeminal ganglion to the pons and medulla oblongata" [J:33038] synonym: "absence of trigeminal nerve connections to hindbrain" EXACT [] is_a: MP:0001065 ! abnormal trigeminal nerve morphology [Term] id: MP:0001070 name: abnormal abducens nerve morphology def: "any structural anomaly of the 6th cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye" [MESH:A08.800.800.120.030, MGI:cwg] synonym: "abducens nerve abnormalities" BROAD [] synonym: "abducens nerve dysplasia" EXACT [] synonym: "abnormal CN-VI morphology" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001071 name: abnormal facial nerve morphology def: "any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular" [ISBN:0-683-40008-8, ISBN:0838580343, PMID:7477377] synonym: "abnormal CN-VII morphology" EXACT [] synonym: "facial nerve abnormalities" BROAD [] synonym: "facial nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001072 name: abnormal vestibulocochlear nerve morphology def: "any structural anomaly in the composite sensory nerve innervating the receptor cells of the membranous labyrinth; it consists of two major, anatomically and functionally distinct components, each of which have different central connections: the vestibular nerve and the cochlear nerve" [ISBN:0-683-40008-8, MGI:anna, PMID:1680563] synonym: "abnormal CN-VIII morphology" EXACT [] synonym: "abnormal eighth cranial nerve [CN VIII] morphology" EXACT [] synonym: "abnormal eighth nerve morphology" EXACT [] synonym: "abnormal nervus acusticus [CN VIII] morphology" EXACT [] synonym: "abnormal nervus octavus [CN VIII] morphology" EXACT [] synonym: "abnormal nervus statoacusticus [CN VIII] morphology" EXACT [] synonym: "abnormal nervus vestibulocochlearis [CN VIII] morphology" EXACT [] synonym: "abnormal octavus morphology" EXACT [] synonym: "abnormal statoacoustic nerve morphology" EXACT [] synonym: "vestibulocochlear nerve abnormalities" BROAD [] synonym: "vestibulocochlear nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001073 name: abnormal glossopharyngeal nerve morphology def: "any structural anomaly of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion" [ISBN:0838580343] synonym: "abnormal CN-IX morphology" EXACT [] synonym: "glossopharyngeal nerve abnormalities" BROAD [] synonym: "glossopharyngeal nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001074 name: abnormal vagus nerve morphology def: "any structural anomaly of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis" [ISBN:0838580343] synonym: "abnormal CN-X morphology" EXACT [] synonym: "vagus nerve abnormalities" BROAD [] synonym: "vagus nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001075 name: abnormal accessory nerve morphology def: "any structural anomaly of the 11th cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord" [MESH:A08.800.800.120.060, MGI:cwg] synonym: "abnormal CN-XI morphology" EXACT [] synonym: "abnormal spinal accessory nerve morphology" EXACT [] synonym: "accessory nerve dysplasia" EXACT [] synonym: "spinal accessory nerve abnormalities" BROAD [] synonym: "spinal accessory nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001076 name: abnormal hypoglossal nerve morphology def: "any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8, MGI:csmith, PMID:9362461] synonym: "abnormal CN-XII morphology" EXACT [] synonym: "hypoglossal nerve abnormalities" BROAD [] synonym: "hypoglossal nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001077 name: abnormal spinal nerve morphology def: "any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment" [MESH:A08.800.800.720] synonym: "abnormal spinal nerves" BROAD [] synonym: "spinal nerve abnormalities" BROAD [] synonym: "spinal nerve dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001078 name: abnormal phrenic nerve morphology def: "any structural anomaly of motor and sensory neuron axons that project to the diaphragm and other tissues" [ISBN:0-683-40008-8, MGI:csmith] synonym: "phrenic nerve dysplasia" EXACT [] is_a: MP:0001077 ! abnormal spinal nerve morphology [Term] id: MP:0001079 name: absent phrenic nerve def: "missing motor and sensory neuron axons to the diaphragm and other tissues" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absence of phrenic nerve" EXACT [] is_a: MP:0001078 ! abnormal phrenic nerve morphology [Term] id: MP:0001080 name: defasiculated phrenic nerve def: "misprojection or failure to bundle motor and sensory neuron axons to the diaphragm and other tissues" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001078 ! abnormal phrenic nerve morphology [Term] id: MP:0001081 name: abnormal cranial ganglia morphology def: "any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves" [ISBN:0-683-40008-8, MGI:csmith, PMID:9362461] synonym: "cranial ganglia abnormalities" BROAD [] synonym: "cranial ganglia dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001082 name: abnormal geniculate ganglion morphology def: "any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion VII morphology" EXACT [] synonym: "abnormal geniculate ganglia morphology" EXACT [] synonym: "abnormal geniculate ganglion of facial (VII) nerve morphology" EXACT [] synonym: "geniculate ganglia dysplasia" EXACT [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001083 name: small geniculate ganglion def: "reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve" [ISBN:0-683-40008-8] synonym: "small cranial ganglion VII" EXACT [] synonym: "small geniculate ganglion of facial (VII) nerve" EXACT [] is_a: MP:0001082 ! abnormal geniculate ganglion morphology [Term] id: MP:0001084 name: abnormal petrosal ganglion morphology alt_id: MP:0001099 def: "any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal extracraniale ganglion morphology" EXACT [] synonym: "abnormal inferior glossopharyngeal ganglion morphology" EXACT [] synonym: "abnormal inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve morphology" EXACT [] synonym: "abnormal petrosal ganglia morphology" EXACT [] synonym: "petrosal ganglion dysplasia" EXACT [] is_a: MP:0001096 ! abnormal glossopharyngeal ganglion morphology [Term] id: MP:0001085 name: small petrosal ganglion def: "reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [ISBN:0-683-40008-8, PMID:9362461] synonym: "reduced petrosal ganglion size" EXACT [] synonym: "small extracraniale ganglion" EXACT [] synonym: "small inferior glossopharyngeal ganglion" EXACT [] synonym: "small inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve" EXACT [] synonym: "small petrosal ganglia" EXACT [] is_a: MP:0001084 ! abnormal petrosal ganglion morphology [Term] id: MP:0001086 name: absent petrosal ganglion def: "absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [ISBN:0-683-40008-8, PMID:9362461] synonym: "absent extracraniale ganglion" EXACT [] synonym: "absent inferior glossopharyngeal ganglion" EXACT [] synonym: "absent inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve" EXACT [] synonym: "absent petrosal ganglia" EXACT [] is_a: MP:0001084 ! abnormal petrosal ganglion morphology [Term] id: MP:0001087 name: abnormal nodose ganglion morphology alt_id: MP:0001103 def: "any structural anomaly of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" [ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal cranial ganglion X morphology" BROAD [] synonym: "abnormal inferior vagus ganglion morphology" EXACT [] synonym: "abnormal inferior vagus ganglion of the vagus (X) nerve morphology" EXACT [] synonym: "abnormal nodose ganglia morphology" EXACT [] synonym: "nodose ganglion dysplasia" EXACT [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001100 ! abnormal vagus ganglion morphology [Term] id: MP:0001088 name: small nodose ganglion def: "reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" [ISBN:0-683-40008-8, PMID:9362461] synonym: "reduced nodose ganglion size" EXACT [] synonym: "small cranial ganglion X" BROAD [] synonym: "small inferior vagus ganglion" EXACT [] synonym: "small inferior vagus ganglion of the vagus (X) nerve" EXACT [] synonym: "small nodose ganglia" EXACT [] is_a: MP:0001087 ! abnormal nodose ganglion morphology [Term] id: MP:0001089 name: absent nodose ganglion def: "absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" [ISBN:0-683-40008-8, PMID:9362461] synonym: "absent cranial ganglion X" BROAD [] synonym: "absent inferior vagus ganglion" EXACT [] synonym: "absent inferior vagus ganglion of the vagus (X) nerve" EXACT [] synonym: "absent nodose ganglia" EXACT [] is_a: MP:0001087 ! abnormal nodose ganglion morphology [Term] id: MP:0001091 name: small vestibular cochlear ganglion def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0003703 [Term] id: MP:0001092 name: abnormal trigeminal ganglion morphology def: "any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion V morphology" EXACT [] synonym: "abnormal Gasserian ganglion morphology" EXACT [] synonym: "abnormal semilunar ganglion morphology" EXACT [] synonym: "abnormal trigeminal ganglia morphology" EXACT [] synonym: "abnormal trigeminal ganglion of trigeminal (V) nerve morphology" EXACT [] synonym: "trigeminal ganglion dysplasia" EXACT [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001093 name: small trigeminal ganglion def: "reduced size of the trigeminal ganglion" [J:17123, J:25565] synonym: "decreased trigeminal ganglion size" EXACT [] synonym: "small cranial ganglion V" EXACT [] synonym: "small Gasserian ganglion" EXACT [] synonym: "small semilunar ganglion" EXACT [] synonym: "small trigeminal ganglia" EXACT [] synonym: "small trigeminal ganglion of trigeminal (V) nerve" EXACT [] is_a: MP:0001092 ! abnormal trigeminal ganglion morphology [Term] id: MP:0001094 name: trigeminal ganglion hypertrophy def: "increased bulk size due to increased cell size of the trigeminal ganglion" [J:34172] synonym: "cranial ganglion V hypertrophy" EXACT [] synonym: "Gasserian ganglion hypertrophy" EXACT [] synonym: "hypertrophy of trigeminal ganglion" EXACT [] synonym: "semilunar ganglion hypertrophy" EXACT [] synonym: "trigeminal ganglia hypertrophy" EXACT [] synonym: "trigeminal ganglion of trigeminal (V) nerve hypertrophy" EXACT [] is_a: MP:0001095 ! enlarged trigeminal ganglion [Term] id: MP:0001095 name: enlarged trigeminal ganglion def: "increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve" [J:17131] synonym: "enlarged cranial ganglion V" EXACT [] synonym: "enlarged Gasserian ganglion" EXACT [] synonym: "enlarged semilunar ganglion" EXACT [] synonym: "enlarged trigeminal ganglia" EXACT [] synonym: "enlarged trigeminal ganglion of trigeminal (V) nerve" EXACT [] synonym: "increased trigeminal ganglion size" EXACT [] is_a: MP:0001092 ! abnormal trigeminal ganglion morphology [Term] id: MP:0001096 name: abnormal glossopharyngeal ganglion morphology def: "any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion IX morphology" EXACT [] synonym: "abnormal glossopharyngeal ganglia morphology" EXACT [] synonym: "glossopharyngeal ganglia dysplasia" EXACT [] synonym: "glossopharyngeal ganglion dysplasia" EXACT [] is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001097 name: abnormal superior glossopharyngeal ganglion morphology def: "any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen" [ISBN:0-683-40008-8] synonym: "abnormal intracranial ganglion morphology" EXACT [] synonym: "abnormal jugular ganglion morphology" BROAD [] synonym: "abnormal superior glossopharyngeal ganglia morphology" EXACT [] synonym: "abnormal superior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve morphology" EXACT [] synonym: "superior glossopharyngeal ganglia dysplasia" EXACT [] is_a: MP:0001096 ! abnormal glossopharyngeal ganglion morphology [Term] id: MP:0001098 name: small superior glossopharyngeal ganglion def: "reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen" [ISBN:0-683-40008-8, J:18984] synonym: "decreased superior glossopharyngeal ganglia size" EXACT [] synonym: "decreased superior glossopharyngeal ganglion size" EXACT [] synonym: "small intracranial ganglion" EXACT [] synonym: "small jugular ganglion" BROAD [] synonym: "small superior glossopharyngeal ganglia" EXACT [] synonym: "small superior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve" EXACT [] is_a: MP:0001097 ! abnormal superior glossopharyngeal ganglion morphology [Term] id: MP:0001100 name: abnormal vagus ganglion morphology def: "any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion X morphology" EXACT [] synonym: "abnormal vagus ganglia morphology" EXACT [] synonym: "vagus ganglia dysplasia" EXACT [] synonym: "vagus ganglion dysplasia" EXACT [] is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001101 name: abnormal superior vagus ganglion morphology def: "any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen" [ISBN:0-683-40008-8] synonym: "abnormal jugular ganglion morphology" BROAD [] synonym: "abnormal superior vagus ganglia morphology" EXACT [] synonym: "abnormal superior vagus ganglion of the vagus (X) nerve morphology" EXACT [] synonym: "jugular ganglion dysplasia" EXACT [] synonym: "superior vagus ganglion dysplasia" EXACT [] is_a: MP:0001100 ! abnormal vagus ganglion morphology [Term] id: MP:0001102 name: small superior vagus ganglion def: "reduced size of the upper ganglion of the vagus nerve located at the jugular foramen" [ISBN:0-683-40008-8, J:18984] synonym: "decreased superior vagus ganglion size" EXACT [] synonym: "small jugular ganglion" BROAD [] synonym: "small superior vagus ganglia" EXACT [] synonym: "small superior vagus ganglion of the vagus (X) nerve" EXACT [] is_a: MP:0001101 ! abnormal superior vagus ganglion morphology [Term] id: MP:0001105 name: abnormal PNS glial cell morphology def: "any structural anomaly of non-neuronal cells that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MESH:A08.637] synonym: "abnormal neuroglia morphology" BROAD [] synonym: "abnormal PNS glia morphology" EXACT [] synonym: "PNS glia abnormalities" BROAD [] is_a: MP:0003634 ! abnormal glial cell morphology [Term] id: MP:0001106 name: abnormal Schwann cell morphology def: "any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons" [MESH:A08.637.800] synonym: "abnormal Schwann cells" BROAD [] synonym: "Schwann cell abnormalities" BROAD [] is_a: MP:0001105 ! abnormal PNS glial cell morphology [Term] id: MP:0001107 name: decreased Schwann cell number def: "fewer than normal number of cells that sheath the axons of the peripheral nervous system" [PMID:7477375] synonym: "reduced Schwann cell number" EXACT [] is_a: MP:0001106 ! abnormal Schwann cell morphology [Term] id: MP:0001108 name: absent Schwann cells def: "missing cells that sheath the axons of the peripheral nervous system" [J:43515] synonym: "absence of Schwann cells" EXACT [] is_a: MP:0001107 ! decreased Schwann cell number [Term] id: MP:0001109 name: absent Schwann cell precursors def: "missing progenitors of cells that sheath the axons of the peripheral nervous system" [J:43515] synonym: "absence of Schwann cell precursors" EXACT [] is_a: MP:0004075 ! decreased Schwann cell precursor number [Term] id: MP:0001116 name: small gonad def: "reduced size of the testis or the ovary" [ISBN:0-683-40008-8, J:34193] synonym: "hypogonad" EXACT [] synonym: "hypogonadism" EXACT [] synonym: "reduced gonad size" EXACT [] is_a: MP:0002211 ! abnormal primary sex determination [Term] id: MP:0001117 name: absent gametes def: "absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote" [ISBN:0-683-40008-8, J:34193] synonym: "absence of gametes" EXACT [] is_a: MP:0001124 ! abnormal gametes is_a: MP:0004806 ! absent germ cells [Term] id: MP:0001119 name: abnormal female reproductive system morphology def: "any structural anomaly of the organs associated with producing offspring in the gender that bears the offspring" [ISBN:0-683-40008-8] synonym: "abnormal female reproductive anatomy" EXACT [] synonym: "female reproductive anatomy dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0001120 name: abnormal uterus morphology def: "any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth" [MGI:csmith] synonym: "abnormal metra morphology" EXACT [] synonym: "abnormal uterine morphology" EXACT [] synonym: "uterine dysplasia" EXACT [] synonym: "uterus dysplasia" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0001121 name: uterus hypoplasia alt_id: MP:0003573 def: "underdevelopment or reduced size of the uterus, usually due to a reduced number of cells" [J:45065] synonym: "metra hypoplasia" EXACT [] synonym: "metral hypoplasia" EXACT [] synonym: "rudimentary metra" EXACT [] synonym: "rudimentary uterus" EXACT [] synonym: "uterine hypoplasia" EXACT [] is_a: MP:0002637 ! small uterus [Term] id: MP:0001123 name: dilated uterus def: "stretched or widened luminal space of the female muscular organ of gestation" [J:50844] synonym: "dilated metra" EXACT [] synonym: "uterine dilation" EXACT [] synonym: "uterus dilation" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0001124 name: abnormal gametes def: "anomaly of any mature reproductive cell, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex, to produce a zygote" [ISBN:0-683-40008-8] is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0001125 name: abnormal oocyte morphology def: "any structural anomaly of the mature germ cells in the female" [ISBN:0-683-40008-8] synonym: "abnormal oocytes" BROAD [] is_a: MP:0001931 ! abnormal oogenesis is_a: MP:0006361 ! abnormal female germ cell morphology [Term] id: MP:0001126 name: abnormal ovary morphology def: "any structural anomaly of the female reproductive gland containing the germ cells" [ISBN:0-683-40008-8] synonym: "abnormal gonad morphology" BROAD [] synonym: "abnormal ovarian morphology" EXACT [] synonym: "abnormal ovaries" BROAD [] synonym: "ovarian dysplasia" EXACT [] synonym: "ovary dysplasia" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0001127 name: small ovary def: "reduced size of the female reproductive gland containing the germ cells" [ISBN:0-683-40008-8] synonym: "decreased ovary size" EXACT [] synonym: "reduced ovary size" EXACT [] synonym: "small ovaries" EXACT [] is_a: MP:0001116 ! small gonad is_a: MP:0004853 ! abnormal ovary size [Term] id: MP:0001128 name: ovary hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the ovary" [ISBN:0-683-40008-8] synonym: "hyperplastic ovaries" EXACT [] synonym: "hyperplastic ovary" EXACT [] synonym: "ovarian hyperplasia" EXACT [] is_a: MP:0004832 ! enlarged ovary [Term] id: MP:0001129 name: impaired ovarian folliculogenesis alt_id: MP:0001122 def: "a block in the formation of the spherical ovum in the ovary" [ISBN:0-683-40008-8, MGI:csmith] synonym: "impaired folliculogenesis" BROAD [] synonym: "impaired ovary folliculogenesis" EXACT [] is_a: MP:0001130 ! abnormal ovarian folliculogenesis [Term] id: MP:0001130 name: abnormal ovarian folliculogenesis def: "atypical formation or failure to form the spherical ovum in the ovary" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal folliculogenesis" BROAD [] synonym: "abnormal ovary folliculogenesis" EXACT [] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0001131 name: abnormal ovarian follicle morphology def: "any structural anomaly of the sac-like structure in the ovary which surrounds an ovum" [ISBN:0-683-40008-8] synonym: "abnormal ovarian follicles" BROAD [] synonym: "ovarian follicle dysplasia" EXACT [] is_a: MP:0001126 ! abnormal ovary morphology [Term] id: MP:0001132 name: absent mature ovarian follicles def: "absence of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle" [MGI:anna] synonym: "absence of mature ovarian follicles" EXACT [] is_a: MP:0001130 ! abnormal ovarian folliculogenesis is_a: MP:0002682 ! decreased mature ovarian follicle number [Term] id: MP:0001133 name: impaired luteal cell differentiation def: "abnormal development of the cells of the corpus luteum of the ovary" [ISBN:0-683-40008-8, PMID:8646780] is_a: MP:0002679 ! abnormal corpus luteum morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0001134 name: absent corpus luteum def: "absence of the yellow endocrine body formed in the ovary after follicle rupture" [ISBN:0-683-40008-8] synonym: "absent corpora lutea" EXACT [] is_a: MP:0002679 ! abnormal corpus luteum morphology [Term] id: MP:0001135 name: abnormal cervix morphology def: "any structural anomaly of the lower opening of the uterus to the vagina" [MGI:tc] synonym: "cervix dysplasia" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0001136 name: dilated cervix def: "stretched or widened aperture of the lower opening of the uterus to the vagina" [J:50844] is_a: MP:0001135 ! abnormal cervix morphology [Term] id: MP:0001137 name: abnormal cervix epithelium morphology def: "any structural anomaly of the epithelial layer of the cervix" [MGI:tc] synonym: "abnormal cervical epithelium morphology" EXACT [] synonym: "cervical epithelium dysplasia" EXACT [] synonym: "cervix epithelium dysplasia" EXACT [] is_a: MP:0001135 ! abnormal cervix morphology [Term] id: MP:0001138 name: abnormal cervix squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the cervix" [MGI:tc, PMID:10227294] synonym: "abnormal cervical squamous epithelium morphology" EXACT [] synonym: "cervical squamous epithelium dysplasia" EXACT [] synonym: "cervix squamous epithelium dysplasia" EXACT [] is_a: MP:0001137 ! abnormal cervix epithelium morphology [Term] id: MP:0001139 name: abnormal vagina morphology def: "any structural anomaly of the female reproductive canal located between the uterus and the vulva" [ISBN:0-683-40008-8] subset: Europhenome_Terms synonym: "abnormal vaginal morphology" EXACT [] synonym: "vaginal dysplasia" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0001140 name: abnormal vagina epithelium morphology def: "any structural anomaly of the epithelial layer of the vagina" [MGI:tc, PMID:10227294] synonym: "abnormal vaginal epithelium morphology" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0001141 name: thickened vaginal epithelium def: "increased depth of the vaginal epithelial layer" [PMID:1709129] is_a: MP:0001140 ! abnormal vagina epithelium morphology [Term] id: MP:0001142 name: abnormal vagina opening def: "any structural anomaly of the opening to the female genital canal" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal vaginal opening" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0001143 name: constricted vagina opening def: "shrunken, narrowed external vaginal opening" [J:50844] synonym: "constricted vaginal opening" EXACT [] is_a: MP:0001142 ! abnormal vagina opening [Term] id: MP:0001144 name: vagina atresia def: "imperforation or occlusion of the vagina, or adhesion of the walls of the vagina" [MGI:anna] synonym: "closed vagina" RELATED [] synonym: "colpatresia" EXACT [] synonym: "complete failure of vagina opening" EXACT [] synonym: "fused vagina opening" EXACT [] synonym: "fused vaginal opening" RELATED [] synonym: "imperforate vagina" EXACT [] synonym: "vaginal atresia" EXACT [] is_a: MP:0001142 ! abnormal vagina opening [Term] id: MP:0001145 name: abnormal male reproductive system morphology def: "any structural anomaly of the organs associated with producing offspring in the gender that produces spermatozoa" [ISBN:0-683-40008-8] synonym: "abnormal male reproductive anatomy" EXACT [] synonym: "male reproductive anatomy dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0001146 name: abnormal testis morphology alt_id: MP:0003206 def: "any structural anomaly of the male reproductive glands" [ISBN:0-683-40008-8] subset: Europhenome_Terms synonym: "abnormal didymus morphology" EXACT [] synonym: "abnormal gonad morphology" BROAD [] synonym: "abnormal male gonad morphology" EXACT [] synonym: "abnormal orchis morphology" EXACT [] synonym: "abnormal testes morphology" EXACT [] synonym: "abnormal testicle morphology" EXACT [] synonym: "abnormal testiculus morphology" EXACT [] synonym: "testicular dysplasia" EXACT [] synonym: "testis dysplasia" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0001147 name: small testis def: "reduced size of the male reproductive glands" [ISBN:0-683-40008-8] subset: Europhenome_Terms synonym: "decreased testis size" EXACT [] synonym: "microorchidism" EXACT [] synonym: "microrchidia" EXACT [] synonym: "reduced testis size" EXACT [] synonym: "small male gonad" EXACT [] synonym: "small testes" EXACT [] synonym: "small testicles" EXACT [] is_a: MP:0001116 ! small gonad is_a: MP:0004849 ! abnormal testis size [Term] id: MP:0001148 name: enlarged testis def: "increased size of the male reproductive glands" [ISBN:0-683-40008-8, J:63229] subset: Europhenome_Terms subset: Sanger_Terms synonym: "enlarged didymus" EXACT [] synonym: "enlarged male gonad" EXACT [] synonym: "enlarged testes" EXACT [] synonym: "enlarged testicles" EXACT [] synonym: "increased testis size" EXACT [] synonym: "macroorchidism" EXACT [] is_a: MP:0004849 ! abnormal testis size [Term] id: MP:0001149 name: testicular hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the testes" [ISBN:0-683-40008-8, J:33042] synonym: "hyperplastic male gonad" EXACT [] synonym: "hyperplastic testes" EXACT [] synonym: "hyperplastic testicles" EXACT [] synonym: "testis hyperplasia" EXACT [] is_a: MP:0001148 ! enlarged testis [Term] id: MP:0001150 name: enlarged scrotum def: "increased size of the external sac of skin that encloses the testes" [ISBN:0-683-40008-8, PMID:1709129] synonym: "increased scrotum size" EXACT [] is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0001151 name: enlarged foreskin def: "increased size of the loose fold of skin that covers the penis" [PMID:1709129] synonym: "increased foreskin size" EXACT [] is_a: MP:0003553 ! abnormal foreskin morphology [Term] id: MP:0001152 name: Leydig cell hyperplasia def: "increased number of interstitial cells of the seminiferous tubules that secrete testosterone" [J:45065] is_a: MP:0001149 ! testicular hyperplasia is_a: MP:0002786 ! abnormal Leydig cell morphology [Term] id: MP:0001153 name: small seminiferous tubules def: "reduced diameter of the tubules in the testes where spermatogenesis occurs" [J:50844] synonym: "narrow seminiferous tubules" EXACT [] is_a: MP:0006307 ! abnormal seminiferous tubule size [Term] id: MP:0001154 name: seminiferous tubule degeneration def: "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844] synonym: "degeneration of seminiferous tubules" EXACT [] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0001155 name: arrest of spermatogenesis def: "block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa" [J:62271] is_a: MP:0001156 ! abnormal spermatogenesis [Term] id: MP:0001156 name: abnormal spermatogenesis def: "incomplete maturation or aberrant formation of the male gametes" [J:58959] synonym: "abnormal sperm development" EXACT [] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0001157 name: small seminal vesicle alt_id: MP:0000657 def: "reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "small seminal gland" RELATED [] synonym: "small seminal vesicles" EXACT [] is_a: MP:0004907 ! abnormal seminal vesicle size [Term] id: MP:0001158 name: abnormal prostate gland morphology alt_id: MP:0000658 def: "any structural anomaly of the gland in males that secretes part of the seminiferous fluid" [ISBN:0-683-40008-8, PMID:10906459] synonym: "abnormal prostate morphology" EXACT [] synonym: "prostate dysplasia" EXACT [] synonym: "prostate gland dysplasia" EXACT [] xref: MA:0000404 is_a: MP:0000653 ! abnormal sex gland morphology is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0001159 name: absent prostate gland def: "missing gland in males that secretes part of the seminiferous fluid" [ISBN:0-683-40008-8, J:66126] synonym: "absence of prostate gland" EXACT [] synonym: "absent prostate" EXACT [] is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0001163 name: abnormal prostate gland anterior lobe morphology alt_id: MP:0000663 def: "any structural anomaly of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles" [PMID:12645922, PMID:3308446] comment: In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). synonym: "abnormal anterior prostate morphology" EXACT [] synonym: "abnormal AP morphology" EXACT [] synonym: "abnormal CG morphology" EXACT [] synonym: "abnormal coagulating gland morphology" EXACT [] xref: MA:0002422 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0001167 name: prostate gland epithelial hyperplasia alt_id: MP:0000667 def: "epithelium is multi-layered instead of columnar and has increased cell number" [PMID:10906459] synonym: "prostate epithelial hyperplasia" EXACT [] is_a: MP:0001168 ! abnormal prostate gland epithelium morphology [Term] id: MP:0001168 name: abnormal prostate gland epithelium morphology alt_id: MP:0000668 def: "any structural anomaly of the prostate epithelium" [PMID:10906459] synonym: "abnormal prostate epithelium morphology" EXACT [] synonym: "prostate epithelial dysplasia" EXACT [] xref: MA:0001737 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0001169 name: abnormal bulbourethral gland morphology alt_id: MP:0000669 def: "any structural anomaly of the gland in males that lies along the prostate gland and secretes a fluid component of the seminal fluid into the urethra" [ISBN:0-683-40008-8] synonym: "abnormal Cowper's gland morphology" EXACT [] synonym: "bulbourethral gland dysplasia" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0001170 name: bulbourethral gland hyperplasia alt_id: MP:0000670 def: "overdevelopment or increased size, usually due an increased number of cells in the bulbourethral gland" [ISBN:0-683-40008-8, PMID:10906459] synonym: "Cowper's gland hyperplasia" EXACT [] synonym: "hyperplastic bulbourethral gland" EXACT [] synonym: "hyperplastic Cowper's gland" EXACT [] is_a: MP:0001169 ! abnormal bulbourethral gland morphology [Term] id: MP:0001173 name: decreased number of ductal cells of the bulbourethral gland alt_id: MP:0000673 def: "OBSOLETE. fewer than the normal number of cells found in the ducts through which the bulbourethral glands discharge mucus into the spongy part of the urethra" [ISBN:0-683-40008-8] synonym: "reduced number of ductal cells in the Cowper's gland" EXACT [] synonym: "reduced number of ductal cells of the bulbourethral gland" EXACT [] is_obsolete: true consider: MP:0001169 [Term] id: MP:0001175 name: abnormal lung morphology def: "any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs" [ISBN:0-683-40008-8] synonym: "abnormal lung" BROAD [] synonym: "lung dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0001176 name: abnormal lung development def: "anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs" [ISBN:0-683-40008-8] is_a: MP:0001175 ! abnormal lung morphology is_a: MP:0003115 ! abnormal respiratory system development [Term] id: MP:0001177 name: atelectasis def: "decrease or absent air in the entire or part of a lung, with resulting loss of lung volume, due to trauma, blockage or congenital defect" [ISBN:0-683-40008-8] synonym: "collapsed lung" EXACT [] synonym: "pulmonary collapse" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0001178 name: pulmonary hypoplasia def: "underdevelopment or reduced size of the respiratory organ due to reduced cell number in all or part of the organ" [ISBN:0-397-51047-0, MGI:cwg] synonym: "hypoplastic lung" EXACT [] synonym: "lung hypoplasia" EXACT [] is_a: MP:0003641 ! small lung [Term] id: MP:0001179 name: thick pulmonary interalveolar septum def: "increased width of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium" [MGI:csmith] synonym: "thick alveolar septa" EXACT [] synonym: "thick alveolar septum" EXACT [] synonym: "thick interalveolar septum" EXACT [] synonym: "thick septum interalveolare" EXACT [] is_a: MP:0010900 ! abnormal pulmonary interalveolar septum morphology [Term] id: MP:0001180 name: cellular infiltration of airway walls def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001181 name: absent lungs alt_id: Fyler:4206 def: "absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "absence of lungs" EXACT [] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0001182 name: lung hemorrhage def: "bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs" [ISBN:0-683-40008-8] synonym: "pulmonary bleeding" EXACT [] synonym: "pulmonary hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0002295 ! abnormal pulmonary circulation [Term] id: MP:0001183 name: overexpanded pulmonary alveoli def: "expanded volume of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries" [ISBN:0-683-40008-8] synonym: "dilated alveoli" EXACT [] synonym: "enlarged alveoli" EXACT [] synonym: "overexpanded respiratory alveoli" EXACT [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology [Term] id: MP:0001184 name: absent pulmonary alveoli def: "absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries" [ISBN:0-683-40008-8] synonym: "absent respiratory alveoli" RELATED [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology [Term] id: MP:0001186 name: pigmentation phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0001188 name: hyperpigmentation def: "excess of pigment in any or all tissues or a part of a tissue" [ISBN:0-683-40008-8, PMID:9778510] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0001189 name: absent skin pigmentation def: "lack of pigmentation of the skin" [PMID:9949198] synonym: "albino" EXACT [] synonym: "pale skin" RELATED [] is_a: MP:0002095 ! abnormal skin pigmentation [Term] id: MP:0001190 name: reddish skin def: "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [PMID:10921880] subset: Europhenome_Terms synonym: "erythema" EXACT [] synonym: "erythematous skin" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001191 name: abnormal skin condition def: "any anomaly in the state or quality of the skin" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001192 name: scaly skin def: "skin covered with shedding scales" [PMID:8941642] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001193 name: psoriasis def: "chronic skin lesions characterized by inflammation and silvery-scaly patches" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0001194 name: dermatitis alt_id: MP:0001205 alt_id: MP:0001206 def: "inflammation of the skin (redness and itching) caused by an allergic reaction or contact with an irritant" [PMID:8941642] synonym: "inflamed skin" BROAD [] synonym: "irritated skin" EXACT [] is_a: MP:0004947 ! skin inflammation [Term] id: MP:0001195 name: flaky skin def: "shedding flakes on the skin" [J:56641] subset: Europhenome_Terms is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001196 name: shiny skin def: "skin with a glossy or glistening appearance" [J:56641] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001197 name: oily skin def: "skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance" [MGI:csmith] is_a: MP:0001196 ! shiny skin [Term] id: MP:0001198 name: tight skin def: "skin has a taut, stretched appearance" [PMID:10921880] synonym: "taut skin" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001199 name: thin skin def: "reduced thickness of the outer protective layer of the body" [ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0001200 name: thick skin def: "greater thickness of the outer protective layer of the body" [ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0001201 name: translucent skin def: "skin that is more transparent to light than normal" [J:15108] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001202 name: skin photosensitivity def: "abnormally heightened reactivity of the skin to sunlight" [ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0001203 name: increased sensitivity to skin irradiation def: "increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage" [PMID:9185996] synonym: "decreased resistance to skin irradiation" EXACT [] synonym: "increased susceptibility to skin irradiation" RELATED [] synonym: "skin irradiation sensitivity" EXACT [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0001204 name: decreased sensitivity to skin irradiation def: "decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage" [PMID:9185996] synonym: "increased resistance to skin irradiation" EXACT [] synonym: "skin irradiation resistance" EXACT [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0001208 name: blistering def: "accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis" [J:65039] synonym: "blister" EXACT [] synonym: "skin blister" EXACT [] synonym: "skin vesicle" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001209 name: spontaneous skin ulceration def: "unpredictable appearance of skin lesions, usually with inflammation" [J:65302] synonym: "skin ulceration" EXACT [] is_a: MP:0001212 ! skin lesions [Term] id: MP:0001210 name: skin ridges def: "long raised strips of skin, usually aligned to the proximal-distal axis" [J:51296] synonym: "thick skin ridges" NARROW [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001211 name: wrinkled skin def: "irregular folds and/or indentations on the skin" [PMID:7925010] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001212 name: skin lesions def: "focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin" [MGI:csmith] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001213 name: abnormal skin cell number def: "greater than or fewer than the expected numbers of cells in the cutis" [MGI:cwg] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001214 name: skin hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the skin; usually results in thick skin" [J:47225] is_a: MP:0001213 ! abnormal skin cell number [Term] id: MP:0001215 name: skin hypoplasia def: "underdevelopment of the cutis, usually due to a deficiency in the number of cells" [ISBN:0-683-40008-8] synonym: "hypoplastic skin" EXACT [] is_a: MP:0001213 ! abnormal skin cell number [Term] id: MP:0001216 name: abnormal epidermal layer morphology alt_id: MP:0001225 def: "any structural anomaly of the superficial epithelial portion of the skin" [ISBN:0-683-40008-8] synonym: "abnormal epidermis morphology" EXACT [] synonym: "epidermal dysplasia" EXACT [] synonym: "epidermal layer dysplasia" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001217 name: absent epidermis def: "missing the epidermal cell layer in the skin" [MGI:tc, PMID:10227294] synonym: "absence of epidermal layer" EXACT [] synonym: "absence of epidermis" EXACT [] synonym: "loss of epidermal layer" BROAD [] synonym: "loss of epidermis" BROAD [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001218 name: thin epidermis def: "reduced thickness of the superficial epithelial portion of the skin" [ISBN:0-683-40008-8, J:61790] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001219 name: thick epidermis def: "increase in the width of the epidermal cell layer in the skin" [PMID:8941642] synonym: "thickened epidermis" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001220 name: epidermal necrosis def: "pathological cell death in the epidermal layer of the skin, usually due to irreversible damage" [PMID:8941642] synonym: "epidermis necrosis" EXACT [] synonym: "necrotic epidermis" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001221 name: epidermal atrophy def: "acquired diminution of the size of epidermal layer of the skin, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001222 name: epidermal hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the epidermis" [ISBN:0-683-40008-8, PMID:8941642] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001224 name: abnormal keratinocyte apoptosis def: "aberrant programmed cell death or anomaly in the number of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [ISBN:0-683-40008-8, MGI:csmith] xref: GO:0006915 xref: GO:0030216 is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0003453 ! abnormal keratinocyte physiology [Term] id: MP:0001230 name: epidermal desquamation def: "shedding of the cuticle of the epidermis in scales or shreds" [ISBN:0-683-40008-8, PMID:10469309] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001231 name: abnormal epidermis stratum basale morphology def: "any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [ISBN:0-683-40008-8] synonym: "abnormal basal cell layer morphology" EXACT [] synonym: "abnormal basal layer morphology" EXACT [] synonym: "abnormal columnar layer morphology" EXACT [] synonym: "abnormal germinative layer morphology" EXACT [] synonym: "abnormal palisade layer morphology" EXACT [] synonym: "abnormal stratum basale epidermis morphology" EXACT [] synonym: "abnormal stratum cylindricum morphology" EXACT [] synonym: "abnormal stratum germinativum morphology" EXACT [] synonym: "epidermis basal cell layer dysplasia" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001232 name: absent epidermis stratum basale def: "absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [ISBN:0-683-40008-8] synonym: "absence of basal layer" EXACT [] synonym: "absent basal cell layer" EXACT [] synonym: "absent basal layer" EXACT [] synonym: "absent columnar layer" EXACT [] synonym: "absent germinative layer" EXACT [] synonym: "absent palisade layer" EXACT [] synonym: "absent stratum basale epidermis" EXACT [] synonym: "absent stratum cylindricum" EXACT [] synonym: "absent stratum germinativum" EXACT [] is_a: MP:0001231 ! abnormal epidermis stratum basale morphology [Term] id: MP:0001233 name: abnormal epidermis suprabasal layer morphology def: "any structural anomaly of the suprabasal layer of the epidermis" [PMID:10469309] synonym: "abnormal suprabasal layer morphology" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001234 name: absent suprabasal layer def: "absence of the suprabasal layer of the skin" [MGI:cwg] synonym: "absence of suprabasal layer" EXACT [] is_a: MP:0001233 ! abnormal epidermis suprabasal layer morphology [Term] id: MP:0001235 name: disorganized suprabasal layer def: "derangement of the pattern of the suprabasal layer of the skin" [MGI:cwg] is_a: MP:0001233 ! abnormal epidermis suprabasal layer morphology [Term] id: MP:0001236 name: abnormal epidermis stratum spinosum morphology def: "any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [ISBN:0-683-40008-8] synonym: "abnormal prickle cell layer morphology" EXACT [] synonym: "abnormal spinous layer morphology" EXACT [] synonym: "abnormal stratum spinosum morphology" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001237 name: enlarged spinous cells def: "increased size of the immature keratinocytes of the spinous layer of the epidermis" [PMID:18197786] synonym: "enlarged prickle cells" EXACT [] synonym: "enlarged spinous cell size" EXACT [] synonym: "increased prickle cell size" EXACT [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology is_a: MP:0002656 ! abnormal keratinocyte differentiation [Term] id: MP:0001238 name: thin epidermis stratum spinosum def: "reduced thickness of the stratum spinosum; the polyhedral cell layer" [ISBN:0-683-40008-8] synonym: "thin epidermal spinous layer" RELATED [] synonym: "thin prickle cell layer" EXACT [] synonym: "thin spinous layer" EXACT [] synonym: "thin stratum spinosum" EXACT [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0001239 name: abnormal epidermis stratum granulosum morphology def: "any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8] synonym: "abnormal epidermal granular layer morphology" EXACT [] synonym: "abnormal granular layer morphology" BROAD [] synonym: "abnormal stratum granulosum morphology" BROAD [] synonym: "epidermal granular layer dysplasia" EXACT [] synonym: "epidermis stratum granulosum dysplasia" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001240 name: abnormal epidermis stratum corneum morphology def: "any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [ISBN:0-683-40008-8] synonym: "abnormal cornified layer morphology" EXACT [] synonym: "abnormal horny layer morphology" EXACT [] synonym: "abnormal stratum corneum morphology" EXACT [] synonym: "cornified layer dysplasia" EXACT [] synonym: "epidermis stratum corneum dysplasia" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001241 name: absent epidermis stratum corneum def: "absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells" [ISBN:0-683-40008-8] synonym: "absence of cornified layer" EXACT [] synonym: "absent cornified layer" EXACT [] synonym: "absent horny layer" EXACT [] synonym: "absent stratum corneum" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0001242 name: hyperkeratosis alt_id: MP:0001223 def: "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133] subset: Sanger_Terms synonym: "epidermal hyperkeratosis" EXACT [] synonym: "thickened cornified layer" EXACT [] synonym: "thickened horny layer" EXACT [] synonym: "thickened stratum corneum" EXACT [] synonym: "thicker cornified layer" EXACT [] synonym: "thicker horny layer" EXACT [] synonym: "thicker stratum corneum" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0001243 name: abnormal dermal layer morphology def: "any structural anomaly or atypical condition of the dermal layer of the skin" [ISBN:0-683-40008-8, PMID:10469309] synonym: "abnormal corium morphology" EXACT [] synonym: "abnormal cutis vera morphology" EXACT [] synonym: "abnormal dermis morphology" EXACT [] synonym: "dermal layer dysplasia" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001244 name: thin dermal layer def: "reduced thickness of the dermis" [J:65030] synonym: "thin corium" EXACT [] synonym: "thin cutis vera" EXACT [] synonym: "thin dermis" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001245 name: thick dermal layer def: "increased depth of the dermis" [J:65033] synonym: "thick corium" EXACT [] synonym: "thick cutis vera" EXACT [] synonym: "thick dermis" EXACT [] synonym: "thickened corium" EXACT [] synonym: "thickened cutis vera" EXACT [] synonym: "thickened dermal layer" EXACT [] synonym: "thickened dermis" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001246 name: mixed cellular infiltration to dermis def: "gradual accumulation of mixed cell types in the dermis that are not normally found there" [J:65416] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001247 name: dermal cysts def: "abnormal membranous sacs appearing in the dermis" [J:53379] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001248 name: absent connective tissue def: "OBSOLETE. missing supporting framework of a tissue or the body; formed of fibrous or ground substance" [ISBN:0-683-40008-8, PMID:10469309] synonym: "absence of connective tissue" EXACT [] is_obsolete: true [Term] id: MP:0001249 name: absent dermal adipose tissue def: "OBSOLETE. missing fat associated with the skin layers" [PMID:7958926] synonym: "absence of dermal adipose tissue" EXACT [] is_obsolete: true consider: MP:0011156 [Term] id: MP:0001251 name: dermis papillary layer hypercellularity def: "increased cell density of the superficial layer" [PMID:10469309] synonym: "hypercellularity of superficial dermis" EXACT [] synonym: "superficial dermis hypercellularity" RELATED [] is_a: MP:0009545 ! abnormal dermis papillary layer morphology [Term] id: MP:0001253 name: abnormal body height def: "any anomaly in the shoulder to floor distance compared to controls" [MGI:dlb] synonym: "abnormal height" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001254 name: increased body height def: "increased shoulder to floor distance compared to controls" [MGI:dlb] synonym: "increased height" EXACT [] is_a: MP:0001253 ! abnormal body height is_a: MP:0001264 ! increased body size [Term] id: MP:0001255 name: decreased body height alt_id: MP:0001269 def: "decreased shoulder to floor distance compared to controls" [MGI:dlb] synonym: "decreased height" EXACT [] synonym: "reduced body height" EXACT [] synonym: "reduced height" EXACT [] synonym: "short stature" EXACT [] is_a: MP:0001253 ! abnormal body height is_a: MP:0001265 ! decreased body size [Term] id: MP:0001256 name: abnormal body length def: "any anomaly in the crown to tail distance compared to controls" [MGI:cwg] subset: Europhenome_Terms synonym: "abnormal length" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001257 name: increased body length def: "increased crown to tail distance compared to controls" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased length" EXACT [] is_a: MP:0001256 ! abnormal body length is_a: MP:0001264 ! increased body size [Term] id: MP:0001258 name: decreased body length def: "decreased crown to tail distance compared to controls" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased length" EXACT [] synonym: "reduced body length" EXACT [] synonym: "reduced length" EXACT [] synonym: "short trunk" EXACT [] is_a: MP:0001256 ! abnormal body length is_a: MP:0001265 ! decreased body size [Term] id: MP:0001259 name: abnormal body weight def: "anomaly in average weight compared to controls" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal weight" EXACT [] is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001260 name: increased body weight def: "greater than normal average weight" [J:33400] subset: Europhenome_Terms subset: Sanger_Terms synonym: "high body weight" EXACT [] synonym: "increased weight" EXACT [] is_a: MP:0001259 ! abnormal body weight is_a: MP:0001264 ! increased body size [Term] id: MP:0001261 name: obese def: "a status with body weight that is grossly above the average, acceptable or desirable weight, usually due to accumulation of excess fat tissue in the body" [HP:0001513, MESH:D009765] synonym: "obesity" EXACT [] is_a: MP:0001260 ! increased body weight [Term] id: MP:0001262 name: decreased body weight def: "lower than normal average weight" [PMID:10709991] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased weight" EXACT [] synonym: "low body weight" EXACT [] synonym: "reduced body weight" EXACT [] synonym: "reduced weight" EXACT [] is_a: MP:0001259 ! abnormal body weight is_a: MP:0001265 ! decreased body size [Term] id: MP:0001263 name: weight loss def: "progressive reduction of body weight below normal average for age" [PMID:9420327] is_a: MP:0001262 ! decreased body weight [Term] id: MP:0001264 name: increased body size def: "larger than average body weight, height and/or length of an organism compared to controls" [ISBN:0-683-40008-8, PMID:8646780] synonym: "increased size" EXACT [] synonym: "large body size" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001265 name: decreased body size def: "smaller than average body weight, height and/or length of an organism compared to controls" [ISBN:0-683-40008-8, PMID:7854452] synonym: "decreased size" EXACT [] synonym: "dwarf" NARROW [] synonym: "reduced body size" EXACT [] synonym: "reduced size" EXACT [] synonym: "runt" EXACT [] synonym: "runted" EXACT [] synonym: "runting" EXACT [] synonym: "small body size" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001267 name: enlarged chest def: "wider diameter, or distended chest cavity" [PMID:7926784] is_a: MP:0004134 ! abnormal chest morphology [Term] id: MP:0001268 name: barrel chest def: "distended circumference of the thoracic and abdominal areas" [PMID:10572046] is_a: MP:0004134 ! abnormal chest morphology [Term] id: MP:0001270 name: distended abdomen def: "abdomen appears curved outward or swollen" [MGI:csmith] subset: Sanger_Terms synonym: "bulging abdomen" EXACT [] synonym: "protruding abdomen" EXACT [] is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0001272 name: increased metastatic potential def: "greater likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it" [MGI:anna, MGI:csmith] is_a: MP:0000858 ! altered metastatic potential [Term] id: MP:0001273 name: decreased metastatic potential def: "reduced likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it" [MGI:anna, MGI:csmith] synonym: "reduced metastatic potential" EXACT [] is_a: MP:0000858 ! altered metastatic potential [Term] id: MP:0001274 name: curly vibrissae alt_id: MP:0001275 def: "coiled or spiral shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [MESH:A13.950, PMID:9573048] subset: Europhenome_Terms subset: Sanger_Terms synonym: "curly contour hair" EXACT [] synonym: "curly sinus hair" EXACT [] synonym: "curly touch hair" EXACT [] synonym: "curly whiskers" EXACT [] synonym: "curved vibrissae" EXACT [] synonym: "curved whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001277 name: tangled vibrissae def: "snarled or intertwined stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [MESH:A13.950, MGI:csmith] subset: Europhenome_Terms synonym: "tangled contour hair" EXACT [] synonym: "tangled sinus hair" EXACT [] synonym: "tangled touch hair" EXACT [] synonym: "tangled whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001278 name: kinked vibrissae def: "sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [J:56641] synonym: "kinked contour hair" EXACT [] synonym: "kinked sinus hair" EXACT [] synonym: "kinked touch hair" EXACT [] synonym: "kinked whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001279 name: wavy vibrissae def: "undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [MESH:A13.950, MGI:csmith] synonym: "wavy contour hair" EXACT [] synonym: "wavy sinus hair" EXACT [] synonym: "wavy touch hair" EXACT [] synonym: "wavy whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001280 name: loss of vibrissae def: "inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [PMID:9420327] synonym: "loss of contour hair" EXACT [] synonym: "loss of sinus hair" EXACT [] synonym: "loss of touch hair" EXACT [] synonym: "loss of whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001281 name: increased vibrissae length def: "longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [MESH:A13.950, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased contour hair length" EXACT [] synonym: "increased sinus hair length" EXACT [] synonym: "increased touch hair length" EXACT [] synonym: "increased whisker length" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001282 name: short vibrissae def: "decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors" [MESH:A13.950, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased contour hair length" EXACT [] synonym: "decreased sinus hair length" EXACT [] synonym: "decreased touch hair length" EXACT [] synonym: "decreased whisker length" EXACT [] synonym: "short contour hair" EXACT [] synonym: "short sinus hair" EXACT [] synonym: "short touch hair" EXACT [] synonym: "short whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001283 name: sparse vibrissae def: "few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [MESH:A13.950, MGI:csmith] synonym: "sparse contour hair" EXACT [] synonym: "sparse sinus hair" EXACT [] synonym: "sparse touch hair" EXACT [] synonym: "sparse whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001284 name: absent vibrissae def: "absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [MESH:A13.950, MGI:csmith, PMID:7958926] subset: Europhenome_Terms subset: Sanger_Terms synonym: "absence of vibrissae" EXACT [] synonym: "absence of whiskers" RELATED [] synonym: "absent contour hair" EXACT [] synonym: "absent sinus hair" EXACT [] synonym: "absent touch hair" EXACT [] synonym: "absent whiskers" RELATED [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001286 name: abnormal eye development def: "malformation or arrest of differentiation of the visual organ" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] subset: Sanger_Terms synonym: "eye development abnormalities" EXACT [] xref: GO:0001654 is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001288 name: abnormal lens induction def: "any anomaly in the signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens" [GO:0060235] synonym: "lens induction abnormalities" EXACT [] is_a: MP:0005545 ! abnormal lens development [Term] id: MP:0001289 name: persistence of hyaloid vascular system def: "failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye" [PMID:18841878] subset: Sanger_Terms synonym: "persistence of hyaloid capillary system" EXACT [] is_a: MP:0001286 ! abnormal eye development is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0001290 name: delayed eyelid opening def: "late average time for the first postnatal eye opening" [J:17792] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. synonym: "delayed eye opening" EXACT [] is_a: MP:0004874 ! abnormal timing of postnatal eyelid opening [Term] id: MP:0001292 name: abnormal lens vesicle development def: "malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye" [ISBN:0-12-402035-6] synonym: "lens vesicle development abnormalities" EXACT [] synonym: "lenticular vesicle development" RELATED [] is_a: MP:0001288 ! abnormal lens induction [Term] id: MP:0001293 name: anophthalmia alt_id: Fyler:4864 alt_id: MP:0001298 def: "absence of the globe and ocular tissue from the orbit, with or without the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus); remnants of the globe sometimes appear in ectopic locations" [MGI:csmith] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "absence of eyes" EXACT [] synonym: "absent eyes" EXACT [] synonym: "eyeless" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001296 name: macrophthalmia def: "increased average size of the eyes" [MGI:csmith] subset: Europhenome_Terms synonym: "big eyes" EXACT [] synonym: "enlarged eyes" EXACT [] synonym: "increased eye size" EXACT [] synonym: "macrophthalamos" EXACT [] is_a: MP:0002697 ! abnormal eye size [Term] id: MP:0001297 name: microphthalmia alt_id: Fyler:4877 def: "reduced average size of the eyes" [PMID:7926784] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased eye size" EXACT [] synonym: "microphthalamos" EXACT [] synonym: "small eyes" EXACT [] is_a: MP:0002697 ! abnormal eye size [Term] id: MP:0001299 name: abnormal eye distance/ position def: "abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures" [MGI:csmith] synonym: "eye distance/ position abnormalities" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001300 name: ocular hypertelorism def: "increased distance between the eyes" [ISBN:0-683-40008-8] synonym: "increased inner canthal distance" EXACT [] synonym: "wide set eyes" EXACT [] synonym: "wider inner canthal distance" EXACT [] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0001301 name: abnormal eye movement def: "OBSOLETE." [MGI:csmith] synonym: "eye movement abnormalities" EXACT [] is_obsolete: true consider: MP:0001389 [Term] id: MP:0001302 name: eyelids open at birth alt_id: MP:0001342 def: "open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness" [MGI:llw2] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. synonym: "open eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001303 name: abnormal lens morphology def: "any structural anomaly of the transparent structure of the eye responsible for focusing light rays" [ISBN:0-683-40008-8, PMID:9144284] subset: Europhenome_Terms subset: Sanger_Terms synonym: "lens abnormalities" BROAD [] synonym: "lens dysplasia" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0001304 name: cataracts alt_id: Fyler:4865 def: "complete or partial opacity of the lens" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "cataract" EXACT [] synonym: "cataracts/ lens opacity" EXACT [] synonym: "lens opacity" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001305 name: enlarged lens def: "increased size of the transparent structure of the eye responsible for focusing light rays" [ISBN:0-683-40008-8] synonym: "increased lens size" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001306 name: small lens def: "reduced size of the transparent structure of the eye responsible for focusing light rays" [ISBN:0-683-40008-8, PMID:9753320] subset: Sanger_Terms synonym: "decreased lens size" EXACT [] synonym: "reduced lens size" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001307 name: fused cornea and lens alt_id: MP:0001315 def: "condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye" [ISBN:0-683-40008-8] synonym: "cornea/lens fusion" EXACT [] synonym: "fused cornea/lens" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology is_a: MP:0005545 ! abnormal lens development [Term] id: MP:0001308 name: abnormal lens polarity def: "failure of normal orientation of the lens during development" [ISBN:0-683-40008-8, MGI:csmith, PMID:9753320] synonym: "abnormal lens polarization" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001309 name: hydropic eye lens fibers def: "swollen cortical fibers of the eye lens" [J:14285] is_a: MP:0002840 ! abnormal lens fiber morphology [Term] id: MP:0001310 name: abnormal conjunctiva morphology def: "any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball" [MESH:A09.371.060.200, MGI:csmith] synonym: "conjunctiva abnormalities" BROAD [] synonym: "conjunctival dysplasia" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0001312 name: abnormal cornea morphology def: "any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure" [ISBN:0-683-40008-8, MESH:A09.371.060.217] subset: Europhenome_Terms subset: Sanger_Terms synonym: "cornea abnormalities" BROAD [] synonym: "corneal dysplasia" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0001313 name: increased incidence of corneal inflammation def: "greater than average and persistent occurrence of corneal irritation" [J:4606] is_a: MP:0001312 ! abnormal cornea morphology is_a: MP:0001851 ! eye inflammation [Term] id: MP:0001314 name: corneal opacity def: "complete or partial clouding of the cornea" [ISBN:0-683-40008-8, MGI:jte] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0001316 name: corneal scarring def: "appearance of fibrous tissue on the cornea after healing in response to injury" [J:30249] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0001317 name: abnormal pupil morphology def: "any structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "pupil abnormalities" BROAD [] synonym: "pupil dysplasia" EXACT [] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0001318 name: pupil opacity def: "milky or cloudy appearance of the central circular aperture of the iris through which light rays normally enter the eye" [ISBN:0-683-40008-8] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0001319 name: irregularly shaped pupil def: "shape defects in the aperture of the iris through which light rays enter the eye, usually circular" [ISBN:0-683-40008-8] subset: Europhenome_Terms synonym: "anisocoria" RELATED [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0001320 name: small pupils def: "smaller than normal size of the central circular aperture of the iris through which light rays enter the eye" [ISBN:0-683-40008-8] synonym: "decreased pupil size" EXACT [] synonym: "reduced pupil size" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0001322 name: abnormal iris morphology alt_id: MP:0006227 def: "any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "iris abnormalities" BROAD [] synonym: "iris dysplasia" EXACT [] is_a: MP:0005194 ! abnormal anterior uvea morphology [Term] id: MP:0001323 name: iris opacity def: "OBSOLETE. milky or cloudy iris that is impervious to light" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001324 name: abnormal eye pigmentation def: "change in the normal pigmentation of the eye to another color, or lack of color" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal eye color" NARROW [] synonym: "abnormal ocular pigmentation" EXACT [] is_a: MP:0002092 ! abnormal eye morphology is_a: MP:0009389 ! abnormal extracutaneous pigmentation [Term] id: MP:0001325 name: abnormal retina morphology def: "any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "retina abnormalities" BROAD [] synonym: "retina dysplasia" EXACT [] synonym: "retinal dysplasia" EXACT [] is_a: MP:0002864 ! abnormal ocular fundus morphology [Term] id: MP:0001326 name: retinal degeneration def: "retrogressive pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [ISBN:0-683-40008-8, MGI:pretel] subset: Europhenome_Terms is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0001327 name: decreased retinal photoreceptor cell number def: "fewer than the expected number of rods and/or cones" [MGI:cwg] synonym: "reduced retinal photoreceptor cell number" EXACT [] synonym: "reduced retinal photoreceptor cells" EXACT [] is_a: MP:0000966 ! decreased sensory neuron number is_a: MP:0001004 ! abnormal retinal photoreceptor morphology [Term] id: MP:0001328 name: disorganized retinal layers def: "derangement of the pattern of the sheets of cells comprising the optic part of the retina" [J:33400] subset: Sanger_Terms is_a: MP:0003727 ! abnormal retinal layer morphology [Term] id: MP:0001329 name: retina hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [ISBN:0-683-40008-8] synonym: "hyperplastic retina" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0001330 name: abnormal optic nerve morphology alt_id: MP:0001058 alt_id: MP:0001287 def: "any structural anomaly of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies" [MGI:csmith] synonym: "abnormal CN-II morphology" EXACT [] synonym: "abnormal optic II nerve morphology" EXACT [] synonym: "optic nerve abnormalities" BROAD [] synonym: "optic nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0001332 name: abnormal optic nerve innervation alt_id: MP:0001060 def: "misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [MGI:csmith] synonym: "optic nerve innervation abnormalities" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0001333 name: absent optic nerve def: "absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [MGI:csmith] synonym: "absent CN-II nerve" EXACT [] synonym: "absent optic II nerve" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0001334 name: absent optic tract def: "absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region" [ISBN:0-683-40008-8] is_a: MP:0004267 ! abnormal optic tract morphology [Term] id: MP:0001335 name: Subject to Infection def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001336 name: increased incidence of inflamed eyes def: "OBSOLETE. greater than normal frequency of inflammatory response in the eyes" [MGI:csmith] is_obsolete: true consider: MP:0001851 [Term] id: MP:0001337 name: dry eyes def: "absence of natural or normal moisture in the eye" [J:53284] synonym: "xerophthalmia" EXACT [] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001340 name: abnormal eyelid morphology def: "any structural anomaly of the skin folds covering the front of the eyeball" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal eyelids morphology" EXACT [] synonym: "eyelid abnormalities" BROAD [] synonym: "eyelid dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001341 name: absent eyelids def: "missing skin folds covering the front of the eyeball when closed" [ISBN:0-683-40008-8, J:61790] subset: Europhenome_Terms is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001343 name: pronounced eyelids def: "strongly protruding eyelids" [J:65032] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001344 name: blepharoptosis alt_id: MP:0006161 def: "ptosis, drooping eyelids" [ISBN:0-683-40008-8] synonym: "drooping eyelids" EXACT [] synonym: "ptosis" EXACT [] synonym: "ptosis of the eye" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001345 name: meibomian gland atrophy alt_id: MP:0000651 def: "acquired diminution of the size of the sebaceous glands embedded in the tarsal plate of each eyelid, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith, PMID:8941642] synonym: "atrophic glandulae tarsales" EXACT [] synonym: "atrophic meibomian glands" EXACT [] synonym: "atrophic palpebral glands" EXACT [] synonym: "atrophic tarsal glands" EXACT [] is_a: MP:0005252 ! abnormal meibomian gland morphology [Term] id: MP:0001346 name: abnormal lacrimal gland morphology alt_id: MP:0000682 def: "any structural anomaly of the glands that secrete tears" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal lachrymal glands morphology" EXACT [] synonym: "abnormal lacrimal system" EXACT [] synonym: "abnormal tear duct morphology" EXACT [] synonym: "lacrimal gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0008968 ! abnormal lacrimal apparatus morphology [Term] id: MP:0001347 name: absent lacrimal glands alt_id: MP:0000684 def: "missing the glands that secrete tears" [ISBN:0-683-40008-8, MGI:tc] synonym: "absence of lachrymal glands" EXACT [] synonym: "absence of lacrimal glands" EXACT [] synonym: "loss of lachrymal glands" BROAD [] synonym: "loss of lacrimal glands" BROAD [] is_a: MP:0001346 ! abnormal lacrimal gland morphology [Term] id: MP:0001348 name: abnormal lacrimal gland physiology def: "any functional anomaly of the glands that secrete tears" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0002164 ! abnormal gland physiology is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001349 name: excessive tearing def: "an unusually high amount of fluid in the eye, either oversecreted by the lacrimal glands, or due to imperfect drainage by the tear conducting passages, often resulting in overflow of fluid from the eye onto the cheek" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "epiphora" EXACT [] synonym: "lacrimous eye" NARROW [] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001353 name: increased aggression towards mice def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression to other mice" EXACT [] synonym: "increased aggression to other mice" EXACT [] is_a: MP:0002557 ! abnormal social/conspecific interaction is_a: MP:0005655 ! increased aggression [Term] id: MP:0001354 name: increased aggression towards males def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression towards males" EXACT [] is_a: MP:0001353 ! increased aggression towards mice [Term] id: MP:0001355 name: submission towards male mice def: "no domineering, assault posture nor hostile physical action toward male mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8, PMID:10716451] synonym: "lack of aggression towards males" EXACT [] is_a: MP:0002557 ! abnormal social/conspecific interaction is_a: MP:0005656 ! decreased aggression [Term] id: MP:0001356 name: increased aggression towards females def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression towards females" EXACT [] is_a: MP:0001353 ! increased aggression towards mice [Term] id: MP:0001357 name: increased aggression toward humans def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression to humans" EXACT [] synonym: "increased aggression to humans" EXACT [] is_a: MP:0005655 ! increased aggression [Term] id: MP:0001358 name: aggression toward inanimate objects def: "a domineering, assault posture and/or hostile physical action toward inanimate objects" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "aggression to inanimate objects" EXACT [] is_a: MP:0005655 ! increased aggression [Term] id: MP:0001359 name: piling def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001360 name: abnormal social investigation def: "altered behavior of animals to approach and examine other animals" [MGI:csmith] is_a: MP:0002557 ! abnormal social/conspecific interaction [Term] id: MP:0001361 name: social withdrawal def: "reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation" [MGI:csmith] comment: In mice, one sign of this phenotype is that animals will remain physically distant, and do not sleep in piles with cagemates. is_a: MP:0001360 ! abnormal social investigation [Term] id: MP:0001362 name: abnormal anxiety-related response def: "altered emotional response related to anticipation of a non-specific threat" [MGI:CFG, MGI:csmith] subset: Europhenome_Terms synonym: "abnormal anxiety response" EXACT [] synonym: "altered anxiety response" EXACT [] is_a: MP:0002065 ! abnormal fear/anxiety-related behavior [Term] id: MP:0001363 name: increased anxiety-related response def: "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [J:49752, J:53060, MGI:cwg] synonym: "elevated anxiety" EXACT [] synonym: "increased anxiety" EXACT [] is_a: MP:0001362 ! abnormal anxiety-related response [Term] id: MP:0001364 name: decreased anxiety-related response alt_id: MP:0001367 alt_id: MP:0001368 alt_id: MP:0002197 def: "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [J:64043, J:85438, J:86626, MGI:cwg] synonym: "decreased anxiety" EXACT [] synonym: "reduced anxiety" EXACT [] synonym: "reduced anxiety in dark-light crossing task" EXACT [] synonym: "reduced anxiety in elevated plus maze test" EXACT [] synonym: "reduced anxiety in elevated zero maze test" EXACT [] is_a: MP:0001362 ! abnormal anxiety-related response [Term] id: MP:0001365 name: increased escape behavior induced by intruder mouse def: "OBSOLETE. resident animals exhibit escape behavior and do not initiate social investigation of an intruder mouse" [MGI:csmith] is_obsolete: true [Term] id: MP:0001366 name: impaired stress response in porsolt forced swin test def: "OBSOLETE. reduced freezing behavior resulting from failed escape attempts induced by forced swim in a small cylinder" [ISBN:0-471-31639-3, MGI:csmith, PMID:10471508] is_obsolete: true [Term] id: MP:0001373 name: Increased Fecundity def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001375 name: abnormal mating preference def: "any change from the common preference of an initiating organism to initiate sexual contact with a receptive partner; in rodents, this usually refers to males that attempts to initiate sexual behavior with males and females indiscriminately" [J:76339] is_a: MP:0002566 ! abnormal sexual interaction [Term] id: MP:0001376 name: abnormal mating receptivity def: "deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior" [J:51468] is_a: MP:0002566 ! abnormal sexual interaction [Term] id: MP:0001377 name: abnormal mating frequency def: "increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner" [MESH:F01.145.113.252.748.200] synonym: "abnormal coitus frequency" EXACT [] synonym: "abnormal copulation frequency" BROAD [] is_a: MP:0002566 ! abnormal sexual interaction [Term] id: MP:0001378 name: abnormal ejaculation def: "anomalies in the ability to propulse semen from the genital ducts and the urethra to the exterior" [ISBN:0-683-40008-8] is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001379 name: abnormal penile erection def: "altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood" [ISBN:0-683-40008-8] is_a: MP:0003698 ! abnormal male reproductive system physiology is_a: MP:0009697 ! abnormal copulation [Term] id: MP:0001380 name: reduced male mating frequency def: "males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility)" [J:57125] synonym: "male reduced copulation" RELATED [] synonym: "male reduced copulation without impotence" RELATED [] synonym: "male sexual dysfunction, without impotence" RELATED [] is_a: MP:0001377 ! abnormal mating frequency [Term] id: MP:0001382 name: abnormal nursing def: "females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently" [MGI:csmith] is_a: MP:0001386 ! abnormal maternal nurturing [Term] id: MP:0001384 name: abnormal pup retrieval def: "any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups" [MGI:csmith] is_a: MP:0009731 ! abnormal offspring retrieval [Term] id: MP:0001385 name: pup cannibalization def: "the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own" [MGI:csmith] is_a: MP:0001386 ! abnormal maternal nurturing [Term] id: MP:0001386 name: abnormal maternal nurturing alt_id: MP:0001381 def: "anomaly in the behaviors related to a female tending to young" [MGI:smb] synonym: "abnormal care for newborns" EXACT [] synonym: "maternal nurturing defect" EXACT [] is_a: MP:0008779 ! abnormal maternal behavior [Term] id: MP:0001387 name: abnormal movement/ locomotion def: "OBSOLETE." [MGI:csmith] synonym: "movement/ locomotion abnormalities" EXACT [] is_obsolete: true consider: MP:0002066 [Term] id: MP:0001388 name: abnormal stationary movement def: "altered ability or inability to change body posture or shift a body part" [MGI:csmith] synonym: "abnormal movement" EXACT [] synonym: "movement abnormalities" EXACT [] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0001389 name: abnormal eye movement def: "deviation from the normal motility of the visual organs" [MGI:cwg] is_a: MP:0001388 ! abnormal stationary movement is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001391 name: abnormal tail movements alt_id: MP:0000590 def: "a change from the normal manner of moving the tail" [MGI:cwg] subset: Europhenome_Terms is_a: MP:0001388 ! abnormal stationary movement [Term] id: MP:0001392 name: abnormal locomotor behavior def: "altered ability or inability to move from place to place in response to stimuli" [MGI:csmith] synonym: "abnormal locomotion" EXACT [] synonym: "abnormal locomotor activity" EXACT [] synonym: "abnormal locomotory behavior" EXACT [] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0001393 name: ataxia def: "inability to coordinate voluntary muscular movements" [ISBN:0-683-40008-8, J:67231] is_a: MP:0001516 ! abnormal motor coordination/ balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001394 name: circling def: "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:csmith, PMID:10709991] subset: Sanger_Terms is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001395 name: bidirectional circling def: "circling behavior exhibited in both clockwise and counterclockwise directions" [MGI:cml] is_a: MP:0001394 ! circling [Term] id: MP:0001396 name: unidirectional circling def: "circling behavior in one direction only, either clockwise or counterclockwise" [MGI:pvb] is_a: MP:0001394 ! circling [Term] id: MP:0001398 name: backflips def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001399 name: hyperactivity alt_id: MP:0001397 alt_id: MP:0001403 def: "general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyperactive" EXACT [] synonym: "hyperlocomotion" EXACT [] synonym: "increased locomotor activity" EXACT [] synonym: "wild running" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0001400 name: hyperresponsive def: "increased reaction to touch" [J:39801] subset: Europhenome_Terms is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception [Term] id: MP:0001401 name: jumpy def: "marked by fitful, jerky movements" [J:22295] is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0001402 name: hypoactivity alt_id: MP:0001419 def: "general reduced locomotor activity; reduced movement from one place to another or having a decreased state of activity" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased locomotor activity" EXACT [] synonym: "hypoactive" EXACT [] synonym: "hypolocomotion" EXACT [] synonym: "reduced activity in horizontal open field test" EXACT [] synonym: "underactive" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0001404 name: no spontaneous movement def: "failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus" [ISBN:0-683-40008-8, MGI:csmith] synonym: "failure to move" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0001405 name: impaired coordination alt_id: MP:0001517 alt_id: MP:0001518 alt_id: MP:0001519 alt_id: MP:0001520 alt_id: MP:0001521 def: "reduced ability to execute integrated movements of muscle" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "impaired motor coordination" EXACT [] synonym: "impaired motor coordination in balance beam test" NARROW [] synonym: "impaired motor coordination in hanging wire test" NARROW [] synonym: "impaired motor coordination in platform test" NARROW [] synonym: "impaired motor coordination in rotarod test" NARROW [] synonym: "impaired motor coordination in thin rod test" NARROW [] is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0001406 name: abnormal gait def: "abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground" [MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal ambulation" EXACT [] synonym: "peculiar gait" EXACT [] is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001407 name: short stride length def: "reduced average distance between steps" [J:34193] is_a: MP:0001406 ! abnormal gait [Term] id: MP:0001408 name: stereotypic behavior def: "repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [ISBN:0-471-31639-3] subset: Sanger_Terms is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001409 name: increased stereotypic behavior def: "more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [ISBN:0-471-31639-3, MGI:csmith] is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001410 name: head bobbing def: "compulsive up and down movement of the head" [J:17123] synonym: "head nodding" EXACT [] is_a: MP:0000436 ! abnormal head movements is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001411 name: spinning def: "compulsive rolling of the body" [J:17123] is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001412 name: excessive scratching def: "compulsive scraping of the skin, usually with the nails" [J:61340] subset: Sanger_Terms is_a: MP:0001408 ! stereotypic behavior is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001413 name: abnormal response to new environment def: "altered behavioral reaction associated with placing an animal in a new location" [MGI:CFG] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal transfer arousal" EXACT [] synonym: "transfer arousal" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory is_a: MP:0003107 ! abnormal response to novelty [Term] id: MP:0001414 name: Increased Response to New Environment def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001415 name: increased exploration in new environment def: "greater amount of time spent investigating new location" [J:28825] subset: Europhenome_Terms is_a: MP:0001413 ! abnormal response to new environment [Term] id: MP:0001416 name: Decreased Response to New Environment def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001417 name: decreased exploration in new environment def: "less amount of time spent investigating a new location" [J:79870] subset: Europhenome_Terms synonym: "neophobia" EXACT [] synonym: "reduced exploration in new environment" EXACT [] is_a: MP:0001413 ! abnormal response to new environment [Term] id: MP:0001418 name: open field locomotion abnormalities def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001421 name: touch escape def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001422 name: abnormal drinking behavior def: "an altered pattern of fluid consumption or altered preference for particular fluids" [MGI:csmith] subset: Sanger_Terms is_a: MP:0002069 ! abnormal eating/drinking behavior [Term] id: MP:0001423 name: abnormal liquid preference def: "the desire to drink more or less fluids than average, or to drink unusual fluids" [MGI:csmith] is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0001424 name: abnormal water consumption def: "OBSOLETE. drinking water in anomalous quantities" [MGI:cwg] is_obsolete: true consider: MP:0001422 [Term] id: MP:0001425 name: abnormal alcohol consumption def: "aberrant behavioral-related or physiological-related intake of alcohol into the body" [MGI:csmith] synonym: "abnormal ethanol consumption" EXACT [] is_a: MP:0001422 ! abnormal drinking behavior is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0001426 name: polydipsia def: "abnormally large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged" [ISBN:0-683-40008-8, MGI:csmith] synonym: "excessive drinking" EXACT [] synonym: "increased drinking" EXACT [] synonym: "polydypsia" EXACT [] is_a: MP:0003911 ! increased drinking behavior [Term] id: MP:0001428 name: adipsia alt_id: MP:0001427 def: "failure to drink" [ISBN:0-683-40008-8, J:30404] is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0001429 name: dehydration def: "excessive water loss from the body or from an organ or bodily part" [ISBN:0-683-40008-8, PMID:9744866] is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0001431 name: abnormal eating behavior alt_id: MP:0001430 def: "inability to consume or atypical consumption pattern" [ISBN:0-683-40008-8, MGI:csmith, PMID:7925010] synonym: "abnormal feeding" EXACT [] synonym: "abnormal feeding behavior" EXACT [] is_a: MP:0002069 ! abnormal eating/drinking behavior [Term] id: MP:0001432 name: abnormal food preference def: "the desire to eat more or less food than average, or to eat unusual foods" [MGI:csmith] is_a: MP:0001431 ! abnormal eating behavior [Term] id: MP:0001433 name: polyphagia def: "eating to excess" [MGI:csmith] subset: Europhenome_Terms synonym: "hyperphagia" EXACT [] synonym: "over eating" EXACT [] is_a: MP:0003909 ! increased eating behavior [Term] id: MP:0001435 name: no suckling reflex def: "inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin" [J:56847] is_a: MP:0001436 ! abnormal suckling behavior [Term] id: MP:0001436 name: abnormal suckling behavior def: "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461] synonym: "abnormal sucking behavior" EXACT [] is_a: MP:0001431 ! abnormal eating behavior [Term] id: MP:0001437 name: no swallowing reflex def: "inability to pull food through the esophagus to the stomach in response to feeding" [J:56847] is_a: MP:0001436 ! abnormal suckling behavior [Term] id: MP:0001438 name: aphagia alt_id: MP:0001434 def: "failure to eat" [ISBN:0-683-40008-8, J:30404] is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0001440 name: abnormal grooming behavior alt_id: MP:0001439 def: "defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [MGI:csmith] synonym: "Grooming" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0001441 name: increased grooming behavior def: "increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [MGI:csmith] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001442 name: decreased grooming behavior def: "reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [MGI:csmith] synonym: "reduced grooming behavior" EXACT [] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001443 name: poor grooming def: "below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [J:30404, MGI:csmith] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001444 name: compulsive biting def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001445 name: compulsive licking def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001446 name: abnormal whisker trimming behavior def: "anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort" [MGI:csmith, MGI:il, PMID:16236465] comment: This is a rodent-specific behavior. Whisker trimming and barbering are either normal or abnormal depending on the mouse strain. Barbering is particularly common in C57BL/6 and A2G but nearly unseen in other strains. This term should always be used in relation to the control and strain should be specified. is_a: MP:0011000 ! abnormal allogrooming behavior [Term] id: MP:0001447 name: abnormal nest building behavior def: "deviation from the usual behavior of nesting animals to build sleeping nests out of any available materials, or of nesting animals to build nests to protect offspring" [ISBN:0-471-31639-3] is_a: MP:0002557 ! abnormal social/conspecific interaction [Term] id: MP:0001448 name: abnormal huddling behavior def: "deviation from the usual tendency of mice to pile together when sleeping" [ISBN:0-471-31639-3] is_a: MP:0002557 ! abnormal social/conspecific interaction [Term] id: MP:0001449 name: abnormal learning/ memory def: "altered ability to ascertain, retain or recall information" [MGI:csmith] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0001450 name: Altered Intelligence def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001451 name: Decreased Intelligence def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001452 name: Increased Intelligence def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001454 name: abnormal cued conditioning behavior alt_id: MP:0001453 def: "anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)" [MGI:CFG] synonym: "abnormal context-trace conditioning" EXACT [] synonym: "cued conditioning anomalies" EXACT [] synonym: "cued fear conditioning abnormalities" EXACT [] synonym: "fear conditioning abnormalities" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0001455 name: normal cued fear conditioning def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001456 name: impaired long term memory in cued fear conditioning test def: "OBSOLETE. altered ability to recall an association between an auditory cue and a foot shock over time; measured by \"freezing\" of animal in response to auditory cue" [ISBN:0-471-31639-3, MGI:csmith, PMID:9949198] is_obsolete: true consider: MP:0001449 consider: MP:0001454 [Term] id: MP:0001457 name: impaired long term memory in contextual fear test def: "OBSOLETE. altered ability to recall an association between a location and a foot shock over time; measured by \"freezing\" of animal in response to auditory cue" [ISBN:0-471-31639-3, MGI:csmith] is_obsolete: true consider: MP:0001449 consider: MP:0001469 [Term] id: MP:0001458 name: abnormal object recognition memory def: "anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [MGI:CFG] synonym: "object recognition memory abnormalities" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0001459 name: impaired memory in novel object recognition test def: "OBSOLETE. reduced time spent exploring a novel object that replaced a training object after a specified retention time" [MGI:csmith] is_obsolete: true consider: MP:0001458 [Term] id: MP:0001460 name: abnormal olfactory -discrimination memory def: "anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus" [MGI:CFG] synonym: "olfactory -discrimination memory abnormalities" EXACT [] is_a: MP:0002802 ! abnormal discrimination learning [Term] id: MP:0001461 name: impaired memory in olfactory discrimination test def: "OBSOLETE. reduced food preference based on food recently smelled on the breath of other individuals" [ISBN:0-471-31639-3] is_obsolete: true consider: MP:0001460 [Term] id: MP:0001462 name: abnormal avoidance learning behavior def: "anomaly in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus" [MGI:CFG] synonym: "avoidance learning anomalies" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0001463 name: abnormal spatial learning alt_id: MP:0001466 alt_id: MP:0001467 def: "anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [MGI:CFG, MGI:csmith] synonym: "spatial learning abnormalities" EXACT [] synonym: "spatial learning impairment in morris water maze test" NARROW [] synonym: "visible learning impairment in morris water maze test" NARROW [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0001464 name: impaired learning in eight arm radial maze test def: "OBSOLETE. reduced ability to remember a sequence of previously visited feeding sites in an eight arm maze" [ISBN:0-471-31639-3] is_obsolete: true consider: MP:0008414 consider: MP:0008428 [Term] id: MP:0001465 name: morris water maze def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001468 name: abnormal temporal memory def: "anomaly in the ability to recall temporal events and stimuli" [MGI:CFG] synonym: "temporal memory abnormalities" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0001469 name: abnormal contextual conditioning behavior def: "anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:CFG] synonym: "abnormal contextual fear conditioning" EXACT [] synonym: "contextual conditioning anomalies" EXACT [] synonym: "contextual fear conditioning abnormalities" EXACT [] is_a: MP:0001468 ! abnormal temporal memory is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0001470 name: impaired long term memory in step-down avoidance test def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0001469 [Term] id: MP:0001471 name: large place fields def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001473 name: reduced long term potentiation def: "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [ISBN:0838580343] synonym: "deficient long term potentiation" EXACT [] synonym: "deficient LTP" EXACT [] synonym: "reduced long-term potentiation" EXACT [] is_a: MP:0002207 ! abnormal long term potentiation [Term] id: MP:0001475 name: reduced long term depression def: "less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons" [ISBN:0838580343, MGI:csmith] synonym: "deficient long term depression" EXACT [] synonym: "deficient LTD" EXACT [] synonym: "reduced long-term depression" EXACT [] is_a: MP:0001898 ! abnormal long term depression [Term] id: MP:0001482 name: Increased Pupil Restriction def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001483 name: Decreased Pupil Restriction def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001485 name: abnormal pinna reflex alt_id: MP:0001962 def: "anomaly in the response to an auditory stimulus by a characteristic ear twitch" [PMID:11583390] subset: Europhenome_Terms synonym: "abnormal ear twitch response" EXACT [] synonym: "abnormal Preyer's reflex" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001486 name: abnormal startle reflex def: "aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [ISBN:0-471-31639-3, MGI:csmith] subset: Europhenome_Terms is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001488 name: increased startle reflex alt_id: MP:0001487 def: "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [ISBN:0-471-31639-3, MGI:csmith] subset: Europhenome_Terms synonym: "increased startle response in acoustic startle test" EXACT [] is_a: MP:0001486 ! abnormal startle reflex [Term] id: MP:0001489 name: decreased startle reflex def: "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [ISBN:0-471-31639-3, MGI:csmith] subset: Europhenome_Terms synonym: "reduced startle reflex" EXACT [] is_a: MP:0001486 ! abnormal startle reflex [Term] id: MP:0001490 name: abnormal vibrissae reflex alt_id: MP:0001276 alt_id: MP:0001969 def: "animals do not change position in response to stimulation of the whiskers" [J:17194] synonym: "abnormal vibrissa reflex" EXACT [] synonym: "failure to orient in response to vibrissae stimulation" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001491 name: unresponsive to tactile stimuli alt_id: MP:0001971 alt_id: MP:0001976 def: "absence of reflex action normally induced by touch or pain" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "absent pain responsiveness in pin prick test" EXACT [] synonym: "absent pain responsiveness in tail pinch test" EXACT [] synonym: "tactile analgesia" RELATED [] is_a: MP:0004270 ! analgesia is_a: MP:0005316 ! abnormal response to tactile stimuli [Term] id: MP:0001492 name: abnormal pilomotor reflex def: "anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe" [MESH:F02.830.702.607, MGI:csmith] comment: The pilomotor reflex occurs in many mammals; for example, porcupines raise their quills when threatened. Piloerection as a response to cold or fear is vestigial in humans; as humans retain only very little body hair, the reflex (in humans) now provides no known benefit. synonym: "abnormal piloerection response" EXACT [] synonym: "cutis anserina" RELATED [] synonym: "goosebumps" RELATED [] synonym: "horripilation" RELATED [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001496 name: audiogenic seizures alt_id: MP:0000949 def: "a reflex seizure triggered by loud noises" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000947 ! convulsive seizures is_a: MP:0009358 ! environmentally induced seizures [Term] id: MP:0001499 name: abnormal kindling response def: "any anomaly in the long-lasting epileptogenic changes normally induced by daily sub threshold electrical brain stimulation, often used as an induced model for epilepsy" [ISBN:0-683-40008-8, J:45446] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0001500 name: reduced kindling response def: "fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation" [J:45446] synonym: "reduced kindling behavior" EXACT [] is_a: MP:0001499 ! abnormal kindling response [Term] id: MP:0001501 name: abnormal sleep pattern alt_id: MP:0002004 def: "deviation from the normal wake/sleep cycle" [MGI:csmith] is_a: MP:0011396 ! abnormal sleep behavior [Term] id: MP:0001502 name: abnormal circadian rhythm alt_id: MP:0002005 def: "deviation from the normal 24 hour biological activity cycle" [MGI:csmith] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0001503 name: abnormal strength/ posture def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0001504 consider: MP:0004262 [Term] id: MP:0001504 name: abnormal posture def: "atypical position of the limbs or carriage of the body" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001505 name: hunched posture def: "stooped low with the limbs pulled in close to the body and arched back" [J:30404, J:67231] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0001506 name: limp posture def: "lack of rigidity of the carriage of the body" [ISBN:0-683-40008-8, J:60159, MGI:csmith] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0001507 name: positional passivity def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001508 name: abnormal body tone def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001509 name: abnormal body position def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001510 name: abnormal coat appearance def: "anomaly in the visual apsect of the coat or hair" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal appearance of the fur" EXACT [] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0001511 name: disheveled coat def: "coat that looks generally unkempt" [MGI:cwg] synonym: "disheveled appearance of the fur" EXACT [] synonym: "ragged coat" EXACT [] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0001512 name: trunk curl def: "posture of the trunk in a curled position" [MGI:cml] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001504 ! abnormal posture [Term] id: MP:0001513 name: limb grasping def: "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [MGI:cml] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal clutching reflex" EXACT [] synonym: "grasping reflex" EXACT [] synonym: "hind limb extension reflex" EXACT [] synonym: "hindlimb extension reflex" EXACT [] synonym: "limb clamping" EXACT [] synonym: "limb clasping" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001514 name: abnormal footprint pathway def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001515 name: abnormal grip strength def: "altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393] subset: Europhenome_Terms is_a: MP:0004262 ! abnormal physical strength [Term] id: MP:0001516 name: abnormal motor coordination/ balance def: "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "impaired proprioception" EXACT [] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001522 name: impaired swimming def: "reduced ability or inability to swim" [J:39081, J:45446] synonym: "impaired ability to orient in water" NARROW [] is_a: MP:0001516 ! abnormal motor coordination/ balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001523 name: impaired righting response def: "reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002862 ! altered righting response [Term] id: MP:0001524 name: impaired limb coordination def: "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:17123, J:64962, MGI:csmith] is_a: MP:0001516 ! abnormal motor coordination/ balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001525 name: impaired balance def: "reduced ability of an animal to maintain equilibrium" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0001526 name: abnormal placing response def: "altered ability to stretch and lift the forelimbs and head to grab a close edge" [MGI:cml, PMID:11136708] synonym: "abnormal reaching response" EXACT [] synonym: "abnormal visual placing" EXACT [] is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0001527 name: athetotic walking movements def: "characterized by slow, writhing involuntary movements of flexion, extension, pronation and supination of the paws and toes" [ISBN:0-683-40008-8, PMID:8208292] synonym: "athetosis" EXACT [] is_a: MP:0001516 ! abnormal motor coordination/ balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001529 name: abnormal vocalization alt_id: MP:0001528 def: "an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound" [MGI:cml] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0001530 name: Increased Vocalization def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0001529 [Term] id: MP:0001531 name: Decreased Vocalization def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0001529 [Term] id: MP:0001532 name: Physiology def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001533 name: abnormal skeleton physiology def: "any functional anomaly of the bony framework of the body" [ISBN:0-683-40008-8] synonym: "abnormal bone/ skeleton physiology" EXACT [] synonym: "bone/ skeletal physiology abnormalities" EXACT [] is_a: MP:0005390 ! skeleton phenotype [Term] id: MP:0001539 name: decreased caudal vertebrae number def: "reduced number of the bony segments of the tail or tail remnant" [ISBN:0-683-40008-8] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of caudal vertebrae" EXACT [] synonym: "decreased number of tail vertebrae" EXACT [] synonym: "reduced caudal vertebrae number" EXACT [] is_a: MP:0002759 ! abnormal caudal vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0001541 name: abnormal osteoclast physiology def: "any functional anomaly of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith] is_a: MP:0002451 ! abnormal macrophage physiology is_a: MP:0002998 ! abnormal bone remodeling [Term] id: MP:0001542 name: abnormal bone strength def: "change in the ability of bone to endure the application of force without yielding or breaking" [ISBN:0-683-40008-8] is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0001544 name: abnormal cardiovascular system physiology alt_id: MP:0000302 alt_id: MP:0001623 alt_id: MP:0001626 alt_id: MP:0002130 def: "any functional anomaly of the heart or vascular tissue" [MGI:csmith] synonym: "abnormal cardiovascular function" EXACT [] synonym: "abnormal circulatory system physiology" EXACT [] synonym: "abnormal heart function" NARROW [] synonym: "circulatory system physiology abnormalities" EXACT [] synonym: "heart/cardiovascular system: other functional anomalies" EXACT [] synonym: "other abnormal cardiovascular system physiology" EXACT [] xref: MGI:2173590 is_a: MP:0005385 ! cardiovascular system phenotype [Term] id: MP:0001545 name: abnormal hematopoietic system physiology def: "any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins" [ISBN:0-683-40008-8] synonym: "abnormal hemopoietic system physiology" EXACT [] synonym: "blood defects" EXACT [] synonym: "blood physiology abnormalities" EXACT [] is_a: MP:0005397 ! hematopoietic system phenotype [Term] id: MP:0001547 name: abnormal lipid level def: "any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [ISBN:0-683-40008-8] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0001548 name: hyperlipidemia def: "abnormally high concentration of lipids in the circulating blood" [ISBN:0-683-40008-8, PMID:8941642] synonym: "hyperlipemia" EXACT [] synonym: "lipemia" EXACT [] is_a: MP:0003949 ! abnormal circulating lipid level [Term] id: MP:0001552 name: increased circulating triglyceride level alt_id: MP:0005142 def: "higher than normal concentration of triacylglycerols in the blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated plasma triacylglycerol level" EXACT [] synonym: "elevated plasma triglyceride level" EXACT [] synonym: "elevated serum triacylglycerol level" EXACT [] synonym: "elevated serum triglyceride level" EXACT [] synonym: "hypertriglyceridemia" RELATED [] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0005317 ! increased triglyceride level [Term] id: MP:0001553 name: abnormal circulating free fatty acids level def: "any anomaly in the blood concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues" [ISBN:0-683-40008-8] synonym: "abnormal circulating fatty acid level" RELATED [] synonym: "abnormal circulating non-esterified fatty acids level" EXACT [] synonym: "abnormal FFA level" BROAD [] synonym: "abnormal NEFA level" RELATED [] synonym: "abnormal UFA level" EXACT [] synonym: "abnormal unesterified fatty acids level" EXACT [] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0010358 ! abnormal free fatty acids level [Term] id: MP:0001554 name: increased circulating free fatty acid level def: "higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated serum free fatty acid levels" NARROW [] synonym: "increased circulating non-esterified fatty acids level" EXACT [] synonym: "increased FFA level" EXACT [] synonym: "increased free fatty acids level" RELATED [] synonym: "increased NEFA level" RELATED [] synonym: "increased UFA level" EXACT [] synonym: "increased unesterified fatty acids level" EXACT [] is_a: MP:0001553 ! abnormal circulating free fatty acids level is_a: MP:0005281 ! increased fatty acid level [Term] id: MP:0001556 name: increased circulating HDL cholesterol level alt_id: MP:0000185 alt_id: MP:0002617 def: "higher amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated circulating HDL cholesterol level" EXACT [] synonym: "elevated HDL cholesterol level" EXACT [] synonym: "high HDL cholesterol level" EXACT [] synonym: "high HDL serum level" EXACT [] synonym: "increased HDL cholesterol level" EXACT [] is_a: MP:0000184 ! abnormal circulating HDL cholesterol level is_a: MP:0005178 ! increased circulating cholesterol level [Term] id: MP:0001559 name: hyperglycemia alt_id: MP:0000190 alt_id: MP:0002612 def: "abnormally high concentration of glucose in the blood; generally refers to a pathological state" [ISBN:0-683-40008-8] subset: Europhenome_Terms synonym: "high blood glucose levels" EXACT [] synonym: "Increased Blood Glucose Level" EXACT [] is_a: MP:0005559 ! increased circulating glucose level [Term] id: MP:0001560 name: abnormal circulating insulin level alt_id: MP:0000191 def: "any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids" [ISBN:0-683-40008-8] synonym: "abnormal insulin level" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0001562 name: abnormal circulating calcium level alt_id: MP:0000193 alt_id: MP:0001767 def: "any anomaly in the concentration of calcium in the blood" [MGI:cwg] synonym: "abnormal calcium level" EXACT [] is_a: MP:0004231 ! abnormal calcium ion homeostasis is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0001565 name: abnormal circulating phosphate level alt_id: MP:0000196 alt_id: MP:0001772 def: "any anomaly in the blood concentrations of the salt or ester of phosphoric acid" [ISBN:0-683-40008-8] synonym: "abnormal phosphate level" EXACT [] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0001566 name: hyperphosphatemia alt_id: MP:0000197 alt_id: MP:0001773 def: "abnormally high concentrations of phosphates in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0001565 ! abnormal circulating phosphate level [Term] id: MP:0001569 name: abnormal circulating bilirubin level alt_id: MP:0000200 def: "any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells" [MGI:csmith] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0001570 name: abnormal circulating enzyme level alt_id: MP:0000201 def: "aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions" [MGI:cwg] synonym: "abnormal blood enzyme level" EXACT [] is_a: MP:0005319 ! abnormal enzyme/ coenzyme level is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0001573 name: abnormal circulating alanine transaminase level alt_id: MP:0000204 def: "aberrant concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2-ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [ISBN:0-683-40008-8] synonym: "abnormal alanine aminotransferase level" EXACT [] synonym: "abnormal alanine transaminase level" EXACT [] synonym: "abnormal ALT level" EXACT [] synonym: "abnormal glutamate pyruvate transaminase level" EXACT [] synonym: "abnormal glutamic-pyruvic transaminase level" EXACT [] synonym: "abnormal GPT level" EXACT [] synonym: "abnormal SGPT level" EXACT [] is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0001574 name: abnormal oxygen level def: "any anomaly in the concentration of the gaseous element that is essential for animal and plant life" [ISBN:0-683-40008-8] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0001575 name: cyanosis def: "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [ISBN:0-683-40008-8] synonym: "cyanotic" EXACT [] is_a: MP:0001574 ! abnormal oxygen level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0001577 name: anemia def: "less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs" [ISBN:0-683-40008-8, PMID:9949198] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0001584 name: platelet storage pool deficiency alt_id: MP:0000212 def: "OBSOLETE. a blood coagulation disorder in which there is a decrease or lack of platelet dense bodies" [MESH:C15.378.100.685] comment: This is really a disease term; see OMIM:185050. synonym: "platelet storage pooling deficiency" EXACT [] is_obsolete: true consider: MP:0004721 [Term] id: MP:0001585 name: hemolytic anemia alt_id: MP:0000213 def: "deficiency of red cells resulting from an increased rate of erythrocyte destruction" [ISBN:0-683-40008-8] synonym: "increased rate of erythrocyte destruction" EXACT [] is_a: MP:0001577 ! anemia [Term] id: MP:0001586 name: abnormal erythrocyte cell number alt_id: MP:0000214 def: "altered number of the cells that transport oxygen, red blood cells, per unit" [MGI:csmith] synonym: "abnormal definitive erythrocyte cell number" EXACT [] synonym: "abnormal erythrocyte count" EXACT [] synonym: "abnormal RBC count" EXACT [] synonym: "abnormal red blood cell count" EXACT [] synonym: "erythrocyte count abnormalities" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology is_a: MP:0011180 ! abnormal hematopoietic cell number [Term] id: MP:0001588 name: abnormal hemoglobin alt_id: MP:0000224 def: "defects in the levels or the function of the oxygen-carrying protein of erythrocytes" [ISBN:0-683-40008-8] synonym: "haemoglobin abnormalities" EXACT [] synonym: "haemoglobin defects" EXACT [] synonym: "hemoglobin abnormalities" EXACT [] synonym: "hemoglobin defects" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0001589 name: abnormal mean corpuscular hemoglobin alt_id: MP:0000225 alt_id: MP:0002595 def: "anomalies in the average levels of hemoglobin contained in an erythrocyte" [ISBN:0-683-40008-8] comment: Mean corpuscular hemoglobin (MCH) is a standard measurment in clinical chemistry, usually reported in picograms/cell. synonym: "abnormal MCH" EXACT [] synonym: "mean corpuscular hemoglobin" EXACT [] is_a: MP:0001588 ! abnormal hemoglobin [Term] id: MP:0001596 name: hypotension alt_id: MP:0000232 def: "sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [ISBN:0-683-40008-8] is_a: MP:0002843 ! decreased systemic arterial blood pressure [Term] id: MP:0001598 name: abnormal blood viscosity alt_id: MP:0000234 def: "anomaly in the resistance to flow of the blood through the vessels" [ISBN:0-683-40008-8] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001599 name: abnormal blood volume alt_id: MP:0000235 def: "any anomaly in the amount of space occupied by the blood in the vessels" [ISBN:0-683-40008-8] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001601 name: abnormal myelopoiesis alt_id: MP:0000169 def: "anomaly in the process of, or atypical formation of myeloid cells from the pluripotent hematopoietic stem cells in the bone marrow from myeloid stem cells, including the production of leukocytes in blood, such as monocytes and granulocytes and precursor cells for macrophage and dendritic cells found in the lymphoid tissue" [MESH:G04.335.151.825.597.750] synonym: "abnormal myeloid cell differentiation" EXACT [] synonym: "myelopoiesis abnormalities" EXACT [] is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0001602 name: impaired myelopoiesis alt_id: MP:0000170 def: "atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed" [ISBN:0-683-40008-8, MGI:tc] synonym: "reduced myelopoiesis" EXACT [] is_a: MP:0001601 ! abnormal myelopoiesis [Term] id: MP:0001603 name: failure of myelopoiesis alt_id: MP:0000171 def: "missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "absence of myelopoiesis" EXACT [] is_a: MP:0001601 ! abnormal myelopoiesis [Term] id: MP:0001606 name: impaired hematopoiesis alt_id: MP:0000244 alt_id: MP:0001607 def: "atypical process of blood cell formation with the result of fewer of these cells being formed" [MGI:tc, PMID:10716451] synonym: "reduced hematogenesis" EXACT [] synonym: "reduced hematopoiesis" EXACT [] synonym: "reduced hematosis" EXACT [] synonym: "reduced hemogenesis" EXACT [] synonym: "reduced hemopoiesis" EXACT [] synonym: "reduced sanguification" EXACT [] is_a: MP:0002123 ! abnormal hematopoiesis [Term] id: MP:0001613 name: abnormal vasodilation alt_id: MP:0000251 alt_id: MP:0005594 def: "anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle" [ISBN:0-683-40008-8, MESH:G09.330.582.400.925] synonym: "abnormal vascular endothelium-dependent relaxation" EXACT [] synonym: "abnormal vascular relaxation" EXACT [] synonym: "abnormal vascular smooth muscle dilation" EXACT [] synonym: "abnormal vasodilatation" EXACT [] synonym: "abnormal vasorelaxation" EXACT [] is_a: MP:0005595 ! abnormal vascular smooth muscle physiology [Term] id: MP:0001614 name: abnormal blood vessel morphology alt_id: MP:0000252 alt_id: MP:0001611 alt_id: MP:0002125 def: "any structural anomaly of the network of tubes that carries blood through the body" [MGI:csmith] synonym: "abnormal vasculature morphology" EXACT [] synonym: "blood vessel abnormalities" BROAD [] synonym: "blood vessel dysplasia" EXACT [] synonym: "vascular dysplasia" EXACT [] synonym: "vasculature abnormalities" BROAD [] is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0001615 name: Decreased Vasculature alt_id: MP:0000253 def: "OBSOLETE." [MGI:csmith] synonym: "Decreased Vasculature" EXACT [] is_obsolete: true consider: MP:0001614 [Term] id: MP:0001616 name: Increased Vasculature alt_id: MP:0000254 def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0001614 [Term] id: MP:0001619 name: abnormal vascular permeability alt_id: MP:0000258 def: "anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [ISBN:0-683-40008-8] is_a: MP:0000249 ! abnormal blood vessel physiology [Term] id: MP:0001622 name: abnormal vasculogenesis alt_id: MP:0000261 def: "aberrant process of the initial establishment of the vascular network" [MGI:csmith] synonym: "vasculogenesis abnormalities" EXACT [] is_a: MP:0000259 ! abnormal vascular development [Term] id: MP:0001625 name: cardiac hypertrophy def: "an increase in size of the cardiac tissue, not due to increased cell number" [ISBN:0-683-40008-8] is_a: MP:0000274 ! enlarged heart [Term] id: MP:0001627 name: abnormal cardiac output alt_id: MP:0000303 def: "anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate)" [MESH:E01.370.370.380.150, MGI:cwg] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001629 name: abnormal heart rate alt_id: MP:0000305 def: "greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute" [MESH:G09.330.553.660.500, MGI:pvb] subset: Europhenome_Terms is_a: MP:0004085 ! abnormal heartbeat [Term] id: MP:0001633 name: poor circulation def: "insufficient movement of blood throughout the body" [MGI:csmith, PMID:9362461] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001634 name: internal hemorrhage def: "blood loss in the interior of the body due to vessel rupture or dysmorphology" [PMID:7854452] synonym: "internal bleeding" EXACT [] is_a: MP:0001914 ! hemorrhage [Term] id: MP:0001636 name: irregular heartbeat def: "uneven timing of heart contraction" [ISBN:0-683-40008-8, MGI:csmith] synonym: "altered heart rhythm" EXACT [] synonym: "arrhythmia" BROAD [] is_a: MP:0004085 ! abnormal heartbeat [Term] id: MP:0001637 name: cardiac arrest def: "OBSOLETE. complete cessation of cardiac activity" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001641 name: death def: "OBSOLETE. cessation of life; cessation of integrated tissue and organ functions; a gradual process at the cellular level" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0001657 consider: MP:0010769 [Term] id: MP:0001648 name: abnormal apoptosis def: "excessive or absent cell death in a particular tissue or cell type" [ISBN:0-683-40008-8, MGI:csmith] xref: GO:0006915 is_a: MP:0000313 ! abnormal cell death [Term] id: MP:0001649 name: abnormal symphysis menti morphology alt_id: MP:0000096 def: "any structural anomaly of the fibrocartilagenous union of the two halves of the mandible (embryonic stages)" [ISBN:0-683-40008-8, PMID:7914451] synonym: "symphysis menti dysplasia" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology [Term] id: MP:0001650 name: abnormal seizure response to electrical stimulation def: "anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation" [MGI:csmith, MGI:wf] synonym: "electrically induced seizures" RELATED [] is_a: MP:0009357 ! abnormal seizure response to inducing agent [Term] id: MP:0001651 name: necrosis def: "pathological death of cells or a portion of a tissue or organ; usually due to irreversible damage" [PMID:7830794] is_a: MP:0000313 ! abnormal cell death [Term] id: MP:0001652 name: colonic necrosis def: "pathologic death of cells within, or a portion of, the colon" [MGI:cwg] is_a: MP:0000495 ! abnormal colon morphology [Term] id: MP:0001653 name: gastric necrosis def: "pathologic death of cells within, or a portion of, the stomach" [MGI:cwg] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0001654 name: hepatic necrosis def: "pathologic death of cells within, or a portion of, the liver" [MGI:cwg] synonym: "liver necrosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0001655 name: multifocal hepatic necrosis def: "multiple localized areas of pathologic death of cells within, or portions of, the liver" [MGI:cwg] synonym: "multifocal liver necrosis" EXACT [] is_a: MP:0001654 ! hepatic necrosis [Term] id: MP:0001656 name: focal hepatic necrosis def: "a localized area of pathologic death of cells within, or a portion of, the liver" [MGI:cwg] synonym: "focal liver necrosis" EXACT [] is_a: MP:0001654 ! hepatic necrosis [Term] id: MP:0001657 name: abnormal induced morbidity/mortality def: "differences from the expected diseased state or death caused by an external intervention" [MGI:cwg] is_a: MP:0010768 ! mortality/aging [Term] id: MP:0001658 name: increased mortality induced by gamma-irradiation def: "greater sensitivity to doses of ionizing radiation" [J:51834] is_a: MP:0003992 ! increased mortality induced by ionizing radiation [Term] id: MP:0001659 name: altered life span alt_id: MP:0001660 def: "OBSOLETE." [MGI:csmith] synonym: "altered life span" EXACT [] is_obsolete: true consider: MP:0010769 [Term] id: MP:0001661 name: extended life span def: "persistence of life for a longer period than is normal for an organism" [MGI:cwg] synonym: "extended lifespan" EXACT [] is_a: MP:0010769 ! abnormal survival [Term] id: MP:0001663 name: abnormal digestive system physiology alt_id: MP:0002142 def: "any functional anomaly of the organ system that converts ingested food to nutrients and energy" [MGI:cwg] subset: Europhenome_Terms synonym: "digestive system physiology abnormalities" EXACT [] synonym: "digestive system: functional anomalies" EXACT [] xref: MGI:2173602 is_a: MP:0005381 ! digestive/alimentary phenotype [Term] id: MP:0001664 name: abnormal digestion def: "any anomaly of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism" [GO:0007586] synonym: "abnormal digestive function" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0001665 name: chronic diarrhea def: "prolonged diarrhea" [ISBN:0-683-40008-8] is_a: MP:0005036 ! diarrhea [Term] id: MP:0001666 name: abnormal intestinal absorption alt_id: MP:0008865 def: "any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine" [GO:0050892] synonym: "abnormal nutrient absorption" EXACT [] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0001667 name: abnormal carbohydrate absorption def: "any anomaly in the ability of the body to take in substances composed of carbon, hydrogen, and oxygen according to the general formula Cn(H2O)n; sugars and starches are examples" [MGI:cwg] is_a: MP:0001666 ! abnormal intestinal absorption [Term] id: MP:0001668 name: abnormal fructose absorption def: "any anomaly in the ability of the body to take in fructose" [MGI:cwg] is_a: MP:0001667 ! abnormal carbohydrate absorption [Term] id: MP:0001669 name: abnormal glucose absorption def: "any anomaly in the ability of the body to take in glucose" [MGI:cwg] is_a: MP:0001667 ! abnormal carbohydrate absorption [Term] id: MP:0001670 name: abnormal intestinal mineral absorption def: "any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine" [MGI:csmith] is_a: MP:0001666 ! abnormal intestinal absorption [Term] id: MP:0001671 name: abnormal vitamin absorption def: "any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism" [ISBN:0-683-40008-8] is_a: MP:0001666 ! abnormal intestinal absorption is_a: MP:0004019 ! abnormal vitamin homeostasis [Term] id: MP:0001672 name: abnormal embryogenesis/ development def: "anomaly in the establishment of the characteristic configuration of the embryonic body" [ISBN:0-683-40008-8] synonym: "embryogenesis/ development abnormalities" EXACT [] xref: GO:0007275 is_a: MP:0005380 ! embryogenesis phenotype [Term] id: MP:0001674 name: abnormal triploblastic development def: "abnormal development of the three primary germ layers of the embryo" [ISBN:0-683-40008-8, MGI:tc] is_a: MP:0002084 ! abnormal developmental patterning is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0001675 name: abnormal ectoderm development def: "failure or abnormality in the formation of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) during gastrulation; ectoderm is in contact with the amnionic cavity" [MGI:anna, MGI:csmith] xref: GO:0001705 is_a: MP:0001674 ! abnormal triploblastic development [Term] id: MP:0001676 name: abnormal apical ectodermal ridge morphology def: "any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc] synonym: "abnormal AER" EXACT [] is_a: MP:0001675 ! abnormal ectoderm development is_a: MP:0005650 ! abnormal limb bud morphology [Term] id: MP:0001677 name: absent apical ectodermal ridge def: "missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [PMID:10227294] synonym: "absence of apical ectodermal ridge" EXACT [] synonym: "absent AER" EXACT [] is_a: MP:0001676 ! abnormal apical ectodermal ridge morphology [Term] id: MP:0001678 name: thick apical ectodermal ridge def: "increase in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc] synonym: "thick AER" EXACT [] is_a: MP:0001676 ! abnormal apical ectodermal ridge morphology [Term] id: MP:0001679 name: thin apical ectodermal ridge def: "decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc] synonym: "thin AER" EXACT [] is_a: MP:0001676 ! abnormal apical ectodermal ridge morphology [Term] id: MP:0001680 name: abnormal mesoderm development alt_id: MP:0001681 def: "failure or abnormality in the formation of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities" [MGI:anna, MGI:csmith] synonym: "abnormal mesoderm differentiation" EXACT [] xref: GO:0001707 is_a: MP:0001674 ! abnormal triploblastic development [Term] id: MP:0001683 name: absent mesoderm alt_id: MP:0001682 def: "missing or failure to differentiate the middle primary germ layer" [J:40594] synonym: "absence of mesoderm" EXACT [] synonym: "Failure of Mesoderm Formation" EXACT [] xref: GO:0001707 is_a: MP:0001680 ! abnormal mesoderm development [Term] id: MP:0001684 name: abnormal axial mesoderm def: "failure or abnormality in the formation of part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord" [MGI:anna, MGI:csmith] is_a: MP:0001680 ! abnormal mesoderm development [Term] id: MP:0001685 name: abnormal endoderm development alt_id: MP:0001686 def: "failure or abnormality in the formation of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) during gastrulation; endoderm develops into the gastrointestinal tract, the lungs and associated tissues" [MGI:csmith] synonym: "abnormal endoderm differentiation" EXACT [] xref: GO:0001706 is_a: MP:0001674 ! abnormal triploblastic development [Term] id: MP:0001687 name: thin endoderm def: "reduced thickness of the innermost germ layer of the embryo" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001685 ! abnormal endoderm development [Term] id: MP:0001688 name: abnormal somite development def: "any anomaly in the formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [ISBN:0-683-40008-8] synonym: "abnormal metablastic segment development" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0001689 name: incomplete somite formation def: "arrest of differentiation or patterning of the somites" [J:62882] is_a: MP:0009768 ! impaired somite development [Term] id: MP:0001690 name: failure of somite differentiation def: "disorganized or absent somite tissue or somite pattern in development" [J:25248] is_a: MP:0009768 ! impaired somite development [Term] id: MP:0001691 name: abnormal somite shape def: "anomaly in the characteristic surface outline or contour of a segmental mass along the notochord of the developing embryo" [MGI:csmith] synonym: "irregular somite shape" EXACT [] is_a: MP:0001688 ! abnormal somite development [Term] id: MP:0001693 name: failure of primitive streak formation def: "inability to form the epiblast ridge from which arises the germ layers of the embryo" [ISBN:0-683-40008-8, MGI:csmith] xref: GO:0007369 is_a: MP:0002230 ! abnormal primitive streak formation [Term] id: MP:0001694 name: failure to form egg cylinders def: "inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure" [ISBN:0-12-402035-6, MGI:csmith] is_a: MP:0003085 ! abnormal egg cylinder morphology [Term] id: MP:0001695 name: abnormal gastrulation def: "any anomaly in the development and invagination of the embryonic germ layers" [ISBN:0-683-40008-8] xref: GO:0007669 is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001696 name: failure to gastrulate def: "inability to differentiate and invaginate the primary germ layers" [ISBN:0-683-40008-8, MGI:csmith] xref: GO:0007669 is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0001697 name: abnormal embryo size def: "any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:cwg] is_a: MP:0001672 ! abnormal embryogenesis/ development is_a: MP:0002088 ! abnormal embryonic growth/weight/body size is_a: MP:0010866 ! abnormal prenatal body size [Term] id: MP:0001698 name: decreased embryo size def: "smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [J:61790] synonym: "reduced embryo size" EXACT [] synonym: "small embryo" EXACT [] is_a: MP:0001697 ! abnormal embryo size [Term] id: MP:0001699 name: increased embryo size def: "larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:cwg] synonym: "enlarged embryo size" EXACT [] is_a: MP:0001697 ! abnormal embryo size [Term] id: MP:0001700 name: abnormal embryo turning def: "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage during which the curvature of the entire trunk region is normally reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [ISBN:0-12-402035-6, MGI:csmith] comment: In mouse, this event occurs at E8.5-E9.5. synonym: "abnormal embryonic axial rotation" EXACT [] synonym: "Abnormal Turning of Embryo" EXACT [] xref: GO:0007669 is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0001701 name: incomplete embryo turning def: "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage" [J:62571] comment: In mouse, this event occurs at E8.5-E9.5. xref: GO:0007669 is_a: MP:0001700 ! abnormal embryo turning [Term] id: MP:0001704 name: abnormal dorsal-ventral axis patterning def: "anomaly in the development or formation of the axis that runs from the front to the back surface of the body" [MGI:csmith] synonym: "abnormal back-front patterning" EXACT [] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001705 name: abnormal proximal-distal axis patterning def: "anomaly in the formation or development of a body structure, often a limb, in relation to the structure's proximity to the trunk or point of origin" [MGI:cwg] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001706 name: abnormal left-right axis patterning def: "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [MGI:cwg] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001710 name: absent amniotic folds def: "failure of amnion to form involutions" [J:40594] synonym: "absence of amniotic folds" EXACT [] is_a: MP:0005029 ! abnormal amnion morphology [Term] id: MP:0001711 name: abnormal placenta morphology def: "any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin" [MGI:csmith] synonym: "abnormal placental morphology" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001712 name: abnormal placenta development def: "malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother" [ISBN:0-683-40008-8, J:61790] synonym: "abnormal placental development" EXACT [] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0001713 name: decreased trophoblast giant cell number def: "fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta" [ISBN:0-683-40008-8, MGI:csmith] synonym: "reduced trophoblast giant cell number" EXACT [] is_a: MP:0005033 ! abnormal trophoblast giant cells [Term] id: MP:0001714 name: absent trophoblast giant cells def: "missing cells of the extraembryonic cell layer that contribute to the placenta" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absence of trophoblast cells" EXACT [] is_a: MP:0001713 ! decreased trophoblast giant cell number [Term] id: MP:0001715 name: placental labyrinth hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the placental labyrinth, the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [ISBN:0-683-40008-8] synonym: "hypoplasia of labyrinth" EXACT [] synonym: "hypoplastic labyrinth" EXACT [] synonym: "hypoplastic placental labyrinth" EXACT [] is_a: MP:0011521 ! decreased placental labyrinth size [Term] id: MP:0001716 name: abnormal placenta labyrinth morphology def: "any structural anomaly of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood, and is the site where the exchange of nutrients and waste products occurs between the maternal and fetal circulation" [PMID:10888863] synonym: "abnormal labyrinth layer morphology" RELATED [] synonym: "abnormal placenta labyrinthine zone morphology" EXACT [] synonym: "abnormal placental labyrinth morphology" EXACT [] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0001717 name: absent ectoplacental cone def: "missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta" [MGI:cwg] synonym: "absence of ectoplacental cone" EXACT [] synonym: "absent epamniotic cone" EXACT [] is_a: MP:0005032 ! abnormal ectoplacental cone morphology [Term] id: MP:0001718 name: abnormal visceral yolk sac morphology def: "any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells" [ISBN:0-683-40008-8, ISBN10:9780123364258, PMID:21123814] synonym: "abnormal secondary yolk sac morphology" EXACT [] synonym: "abnormal umbilical vesicle morphology" EXACT [] synonym: "abnormal vitelline sac morphology" EXACT [] synonym: "abnormal yolk sac morphology" BROAD [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001719 name: absent vitelline blood vessels def: "absence of the vascular network that supplies the yolk sac" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absence of vitelline blood vessels" EXACT [] synonym: "absent omphalomesenteric vessels" NARROW [] is_a: MP:0003229 ! abnormal vitelline vasculature morphology [Term] id: MP:0001720 name: excessive surface folding def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001721 name: absent visceral yolk sac blood islands def: "absence of the masses of developing blood cells attached to endothelium in the yolk sac" [PMID:16140152] synonym: "absence of blood islands" EXACT [] synonym: "absent blood islands" EXACT [] is_a: MP:0011204 ! abnormal visceral yolk sac blood island morphology [Term] id: MP:0001722 name: pale yolk sac def: "bloodless yolk sac" [J:62571] is_a: MP:0001718 ! abnormal visceral yolk sac morphology [Term] id: MP:0001723 name: disorganized yolk sac vascular plexus def: "derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network" [MGI:csmith] is_a: MP:0001718 ! abnormal visceral yolk sac morphology is_a: MP:0003229 ! abnormal vitelline vasculature morphology [Term] id: MP:0001724 name: abnormal extraembryonic endoderm formation def: "malformation of the endoderm of the extraembryonic tissue that appears prior to gastrulation and performs critical functions during embryogenesis including nutrient uptake and transport from the mother to the embryo" [J:62628] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001725 name: abnormal umbilical cord morphology def: "any structural anomaly of the connective stalk between the fetus and the placenta" [ISBN:0-683-40008-8, PMID:9144284] synonym: "umbilical cord dysplasia" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001726 name: abnormal allantois morphology def: "any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [ISBN:0-683-40008-8] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001727 name: abnormal embryo implantation def: "failure of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development" [ISBN:0-683-40008-8, MGI:llw2, PMID:10882512] is_a: MP:0001672 ! abnormal embryogenesis/ development is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0001728 name: failure of embryo implantation def: "inability of the blastocyst to attach to the endometrium of the uterus due to defects in the embryo" [J:38772] synonym: "failure of implantation" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0001729 name: impaired embryo implantation def: "impaired ability of the blastocyst to attach to the endometrium of the uterus due to defects in the embryo" [ISBN:0-683-40008-8] synonym: "abnormal blastocyst activation" RELATED [] synonym: "abnormal blastocyst competency" RELATED [] synonym: "defective implantation" EXACT [] synonym: "impaired implantation" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0001730 name: embryonic growth arrest def: "the cessation of development beyond a particular stage" [J:17509] synonym: "arrested embryonic development" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0001731 name: abnormal postnatal growth def: "anomaly in reaching a developmental stage or stages after birth" [MGI:il] is_a: MP:0002089 ! abnormal postnatal growth/weight/body size [Term] id: MP:0001732 name: postnatal growth retardation def: "slow or limited development after birth" [ISBN:0-683-40008-8] synonym: "atelia" NARROW [] synonym: "ateliosis" NARROW [] synonym: "decreased growth rate" EXACT [] synonym: "reduced growth rate" EXACT [] synonym: "stunted growth" EXACT [] is_a: MP:0001731 ! abnormal postnatal growth [Term] id: MP:0001734 name: abnormal endocrine organ def: "OBSOLETE. any structural anomaly of any of the glands that have no ducts, their secretions being absorbed directly into the blood" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0002163 consider: MP:0002164 [Term] id: MP:0001739 name: abnormal adrenal gland secretion def: "altered ability of the surparenal gland to produce or secrete hormones" [MGI:hdene] synonym: "abnormal adrenal secretion" RELATED [] is_a: MP:0002909 ! abnormal adrenal gland physiology [Term] id: MP:0001740 name: failure of adrenal epinephrine secretion def: "inability of adrenal gland to deliver epinephrine into the blood stream" [ISBN:0-683-40008-8, MGI:csmith, PMID:10357937] synonym: "failure of adrenaline secretion" EXACT [] synonym: "failure of epinephrine secretion" EXACT [] is_a: MP:0001739 ! abnormal adrenal gland secretion [Term] id: MP:0001741 name: decreased adrenaline synthesis def: "OBSOLETE. less than the normal formation of this catecholamine hormone that stimulates the adrenergic receptors" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased epinephrine synthesis" EXACT [] synonym: "reduced adrenaline synthesis" EXACT [] synonym: "reduced epinephrine synthesis" EXACT [] is_obsolete: true [Term] id: MP:0001742 name: absent circulating adrenaline def: "lack of a catecholamine hormone that stimulates the adrenergic receptors and causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [ISBN:0-683-40008-8, J:24414] synonym: "absence of circulating adrenaline" EXACT [] synonym: "absence of epinephrine" EXACT [] is_a: MP:0005660 ! abnormal circulating adrenaline level [Term] id: MP:0001743 name: absent circulating noradrenaline def: "lack of this catecholamine hormone that is secreted in response to hypoactivity or physical stress in the blood; used as a vasoconstrictor" [ISBN:0-683-40008-8, J:24414] synonym: "absence of noradrenaline" EXACT [] synonym: "absence of norepinephrine" EXACT [] is_a: MP:0005663 ! abnormal circulating noradrenaline level [Term] id: MP:0001744 name: hypersecretion of corticosterone def: "increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001739 ! abnormal adrenal gland secretion [Term] id: MP:0001745 name: increased circulating corticosterone level def: "greater than the normal amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [ISBN:0-683-40008-8, MGI:csmith, PMID:10357937] synonym: "elevated serum levels of corticosterone" EXACT [] synonym: "hypercorticosteronemia" EXACT [] is_a: MP:0003367 ! increased circulating glucocorticoid level is_a: MP:0005345 ! abnormal circulating corticosterone level [Term] id: MP:0001746 name: abnormal pituitary secretion def: "anomaly in the production and/or release of biologically active substances from pituitary tissue" [MGI:csmith] is_a: MP:0005646 ! abnormal pituitary gland physiology [Term] id: MP:0001747 name: hypersecretion of adrenocorticotropin def: "increased release of this pituitary hormone from the pituitary gland that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex" [ISBN:0-683-40008-8, MGI:csmith] synonym: "hypersecretion of ACTH" EXACT [] is_a: MP:0003347 ! hyperpituitarism [Term] id: MP:0001748 name: increased circulating adrenocorticotropin level def: "elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex" [ISBN:0-683-40008-8, MGI:csmith, PMID:10357937] synonym: "elevated serum levels of ACTH" EXACT [] synonym: "increased serum levels of ACTH" EXACT [] synonym: "increased serum levels of adrenocorticotropic hormone" EXACT [] synonym: "increased serum levels of adrenocorticotropin" EXACT [] synonym: "increased serum levels of adrenotropic hormone" EXACT [] synonym: "increased serum levels of adrenotropin" EXACT [] is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005129 ! increased adrenocorticotropin level [Term] id: MP:0001749 name: suppressed circulating follicle stimulating hormone level def: "repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis" [ISBN:0-683-40008-8] synonym: "suppressed follicle stimulating hormone levels" EXACT [] synonym: "suppressed FSH levels" EXACT [] is_a: MP:0002790 ! decreased circulating follicle stimulating hormone level [Term] id: MP:0001750 name: increased circulating follicle stimulating hormone level def: "higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis" [ISBN:0-683-40008-8, J:35782] synonym: "increased serum levels of follicle stimulating hormone" EXACT [] synonym: "increased serum levels of follitropin" EXACT [] synonym: "increased serum levels of FSH" EXACT [] synonym: "increased serum levels of gametokinetic hormone" EXACT [] is_a: MP:0003362 ! increased circulating gonadotropin level is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005131 ! increased follicle stimulating hormone level [Term] id: MP:0001751 name: increased circulating luteinizing hormone level def: "higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary" [MESH:D06.472.699.322.576.463] synonym: "increased serum levels of LH" EXACT [] synonym: "increased serum levels of luteinizing hormone" EXACT [] synonym: "increased serum levels of lutropin" EXACT [] is_a: MP:0003362 ! increased circulating gonadotropin level is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005133 ! increased luteinizing hormone level [Term] id: MP:0001752 name: abnormal hypothalamus secretion def: "altered ability of the hypothalamus to produce or release biologically active substances" [MGI:cwg] is_a: MP:0005645 ! abnormal hypothalamus physiology [Term] id: MP:0001753 name: hypersecretion of corticotropin-releasing hormone def: "excessive release of this factor, which normally stimulates the pituitary to release adrenocorticotropic hormone, from the hypothalamus" [ISBN:0-683-40008-8, MGI:cwg] synonym: "hypersecretion of CRH" EXACT [] is_a: MP:0001752 ! abnormal hypothalamus secretion [Term] id: MP:0001754 name: increased circulating corticotropin-releasing hormone level def: "higher than average amount of CRH in blood; CRH is normally released by the hypothalamus and stimulates the release of corticotropin by the anterior pituitary gland" [PMID:10471508] synonym: "elevated serum levels of corticotropin-releasing hormone" EXACT [] synonym: "elevated serum levels of CRH" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0001755 name: abnormal excretion physiology def: "OBSOLETE." [MGI:csmith] synonym: "excretion defects" EXACT [] synonym: "excretion physiological abnormalities" EXACT [] is_obsolete: true consider: MP:0001663 consider: MP:0001756 [Term] id: MP:0001756 name: abnormal urination def: "anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body" [MGI:csmith] subset: Europhenome_Terms synonym: "abnormal micturition" EXACT [] synonym: "abnormal urine voiding" RELATED [] xref: GO:0060073 is_a: MP:0005502 ! abnormal renal/urinary system physiology [Term] id: MP:0001758 name: abnormal urine glucose level def: "any change in the amount of glucose in the urine" [MGI:csmith] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0001759 name: increased urine glucose level def: "a greater amount of glucose in the urine compared to the normal state" [MGI:csmith] synonym: "glucosuria" EXACT [] synonym: "glycosuria" EXACT [] is_a: MP:0001758 ! abnormal urine glucose level [Term] id: MP:0001760 name: abnormal urine enzyme level def: "any change in the level of enzymes in the urine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0001761 name: abnormal urination pattern def: "increased or decreased frequency of urination episodes, or extended periods of anuria" [MGI:smb] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0001762 name: polyuria def: "increased volume of urine produced and excreted" [MGI:cwg, MGI:smb] comment: Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or\npollakiuria) is the correct term for increased frequency of urination. subset: Sanger_Terms synonym: "diuresis" EXACT [] synonym: "increased urine output" EXACT [] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0001763 name: Infrequent Urination def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0001761 [Term] id: MP:0001764 name: abnormal homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the fluids and tissues" [ISBN:0-683-40008-8] synonym: "abnormal homeostatic process" EXACT [] synonym: "homeostasis abnormalities" EXACT [] is_a: MP:0005376 ! homeostasis/metabolism phenotype [Term] id: MP:0001765 name: abnormal ion homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues" [MGI:cwg] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0001766 name: abnormal aluminum level def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001770 name: abnormal iron level alt_id: MP:0000209 alt_id: MP:0001581 def: "any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [ISBN:0-683-40008-8] is_a: MP:0000192 ! abnormal mineral level is_a: MP:0005637 ! abnormal iron homeostasis [Term] id: MP:0001771 name: abnormal circulating magnesium level def: "any anomaly in the blood concentration of magnesium" [ISBN:0-683-40008-8] synonym: "abnormal magnesium level" EXACT [] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0001775 name: abnormal selenium level def: "any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes" [ISBN:0-683-40008-8] is_a: MP:0000192 ! abnormal mineral level [Term] id: MP:0001776 name: abnormal circulating sodium level def: "any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [ISBN:0-683-40008-8] synonym: "abnormal sodium level" EXACT [] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0001777 name: abnormal body temperature homeostasis def: "any anomaly in the process in which an organism modulates or maintains its internal body temperature" [GO:0001659, MGI:csmith] synonym: "abnormal body temperature regulation" EXACT [] synonym: "abnormal temperature regulation" EXACT [] synonym: "abnormal thermoregulation" EXACT [] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0001778 name: abnormal brown adipose tissue amount alt_id: MP:0000004 def: "anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes" [MESH:A10.165.114.322, MGI:cwg] synonym: "abnormal brown fat amount" EXACT [] is_a: MP:0002971 ! abnormal brown adipose tissue morphology is_a: MP:0005452 ! abnormal adipose tissue amount [Term] id: MP:0001780 name: decreased brown adipose tissue amount alt_id: MP:0000006 def: "reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MESH:A10.165.114.322, MGI:cwg] synonym: "decreased brown fat" EXACT [] synonym: "decreased brown fat amount" RELATED [] synonym: "reduced brown fat" EXACT [] synonym: "reduced brown fat amount" EXACT [] is_a: MP:0001778 ! abnormal brown adipose tissue amount [Term] id: MP:0001781 name: abnormal white adipose tissue amount alt_id: MP:0000007 def: "anomaly in the quantity of the white fat-storing cells/tissue" [MGI:cwg] synonym: "abnormal white fat amount" EXACT [] is_a: MP:0002970 ! abnormal white adipose tissue morphology is_a: MP:0005452 ! abnormal adipose tissue amount [Term] id: MP:0001783 name: decreased white adipose tissue amount alt_id: MP:0000009 def: "reduced quantity of fat-storing cells/tissue" [MGI:cwg] synonym: "decreased white fat" EXACT [] synonym: "decreased white fat amount" EXACT [] synonym: "reduced white adipose tissue amount" EXACT [] synonym: "reduced white fat" EXACT [] synonym: "reduced white fat amount" EXACT [] is_a: MP:0001781 ! abnormal white adipose tissue amount [Term] id: MP:0001784 name: abnormal fluid regulation def: "any anomaly in the control of intracellular and/or extracellular fluid" [MGI:cwg] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0001785 name: edema alt_id: MP:0001338 def: "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "oedema" EXACT [] is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0001786 name: skin edema alt_id: MP:0001207 def: "accumulation of an excessive amount of fluid in the skin layers or just underneath the skin" [J:65039] synonym: "subcutaneous edema" EXACT [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0001785 ! edema [Term] id: MP:0001787 name: pericardial edema alt_id: MP:0000290 def: "accumulation of watery fluid in the pericardial sac of the heart" [J:52597] synonym: "pericardial sac edema" EXACT [] synonym: "pericardium edema" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology is_a: MP:0001785 ! edema [Term] id: MP:0001788 name: periorbital edema alt_id: MP:0001339 def: "accumulation of an excessive amount of fluid in the area around the orbit" [MGI:tc, PMID:10716451] is_a: MP:0001785 ! edema is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001790 name: abnormal immune system physiology alt_id: MP:0001789 def: "deviation from the normal function of the immune system" [MGI:cwg] synonym: "immune system/response abnormalities" EXACT [] synonym: "immune system: response/ function abnormalities" EXACT [] xref: GO:0006955 is_a: MP:0005387 ! immune system phenotype [Term] id: MP:0001791 name: immunodeficiency def: "OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001792 name: impaired wound healing def: "reduced ability or inability to self-repair and close wounds" [J:65302, MGI:cwg] synonym: "impaired wound repair" EXACT [] is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0001793 name: altered susceptibility to infection alt_id: MP:0002548 def: "a change in the likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "altered resistance to infection" EXACT [] is_a: MP:0005025 ! abnormal response to infection [Term] id: MP:0001794 name: Bacterial def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001795 name: Gram Negative def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001796 name: Gram Positive def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001797 name: Opportunistic Infections of the Intestinal Tract def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001798 name: impaired macrophage phagocytosis def: "reduced ability of macrophage phagocytic cells to internalize particulate matter" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "decreased macrophage phagocytosis" EXACT [] is_a: MP:0002451 ! abnormal macrophage physiology [Term] id: MP:0001799 name: Viral def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001800 name: abnormal humoral immune response def: "any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination" [ISBN:081533642X, MGI:csmith] synonym: "antibody-mediated immune response abnormalities" EXACT [] synonym: "humoral immune response dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001802 name: arrested B cell differentiation alt_id: MP:0002457 def: "inability to produce mature B cells, and accumulation of B cell precursors" [J:52607] synonym: "arrested B cell development" EXACT [] synonym: "arrested B lymphocyte development" EXACT [] synonym: "arrested B-cell development" EXACT [] synonym: "failed B cell maturation" EXACT [] synonym: "failed B lymphocyte maturation" EXACT [] synonym: "failed B-cell maturation" EXACT [] synonym: "failure of B cell maturation" EXACT [] synonym: "failure of B lymphocyte maturation" EXACT [] synonym: "failure of B-cell maturation" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation [Term] id: MP:0001804 name: abnormal complement protein physiology def: "OBSOLETE. functional anomaly of any of the complement proteins" [MGI:cwg] synonym: "complement protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0001805 name: decreased IgG level alt_id: MP:0001815 def: "less than normal immunoglobulin class G level" [MGI:cwg] synonym: "decreased serum level of immunoglobulin G" NARROW [] synonym: "hypogammaglobulinemia" EXACT [] synonym: "reduced IgG level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level [Term] id: MP:0001806 name: decreased IgM level alt_id: MP:0001816 def: "less than normal immunoglobulin class M level" [MGI:cwg] subset: Europhenome_Terms synonym: "decreased serum level of immunoglobulin M" NARROW [] synonym: "reduced IgM level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level [Term] id: MP:0001807 name: decreased IgA level def: "less than normal immunoglobulin class A level" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced IgA level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level [Term] id: MP:0001808 name: B cell Immunodeficiency def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0008071 [Term] id: MP:0001809 name: Abnormal Immunoglobulin Production def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002490 [Term] id: MP:0001817 name: abnormal antibody production def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002459 consider: MP:0002490 [Term] id: MP:0001818 name: abnormal antibody titer def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002459 consider: MP:0002490 [Term] id: MP:0001819 name: abnormal immune cell physiology def: "any functional anomaly of the cells of the immune system" [MGI:cwg] synonym: "immune cell dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001820 name: abnormal activated B cell number def: "OBSOLETE." [] synonym: "abnormal activated B lymphocyte number" EXACT [] synonym: "abnormal activated B-cell number" EXACT [] is_obsolete: true [Term] id: MP:0001823 name: thymus hypoplasia alt_id: MP:0000707 def: "underdevelopment or reduced size, usually due to a reduced cell number, in the thymus" [J:23255] synonym: "decreased thymus cellularity" RELATED [] synonym: "hypoplastic thymus" EXACT [] synonym: "thymic hypoplasia" EXACT [] is_a: MP:0000706 ! small thymus [Term] id: MP:0001824 name: abnormal thymus involution alt_id: MP:0000710 def: "premature or late decline in thymic function normally associated with advancing age" [MGI:csmith, MGI:smb] synonym: "abnormal thymic involution" EXACT [] synonym: "involuted thymus" EXACT [] is_a: MP:0003763 ! abnormal thymus physiology [Term] id: MP:0001825 name: arrested T cell differentiation def: "failure of T cell formation to proceed past a defined stage" [MGI:cwg] synonym: "arrested T cell development" EXACT [] synonym: "arrested T-cell development" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0001828 name: abnormal T cell activation def: "anomaly in the process of producing effector T cells from naive T cells" [ISBN:0-8153-1691-7, MGI:cwg] comment: This process requires recognition of a foreign peptide fragment bound to self-MHC and the simultaneous delivery of a co-stimulatory signal by an antigen presenting cell; it results in the clonal expansion of naive T cells and their differentiation into armed effector cells. synonym: "abnormal T-cell activation" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0001829 name: increased activated T cell number alt_id: MP:0000320 def: "greater than normal numbers of effector T cells" [MGI:cwg] synonym: "increased activated T-cell number" EXACT [] is_a: MP:0005015 ! increased T cell number [Term] id: MP:0001830 name: decreased activated T cell number alt_id: MP:0000331 def: "reduced numbers of effector T cells" [MGI:cwg] synonym: "decreased activated T-cell number" EXACT [] synonym: "reduced activated T cell number" EXACT [] is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0001831 name: T cell immunodeficiency alt_id: MP:0002537 def: "OBSOLETE.defective immune response due to defective T-lymphocyte response" [ISBN:0-683-40008-8] synonym: "T-cell deficiency" EXACT [] synonym: "T-cell immunodeficiency" EXACT [] is_obsolete: true consider: MP:0008070 [Term] id: MP:0001832 name: CD4-Positive cell immunodeficiency def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0003790 [Term] id: MP:0001833 name: CD8- Positive cell immunodeficiency def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0000727 [Term] id: MP:0001834 name: macrophage immunodeficiency/impairment def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002451 [Term] id: MP:0001835 name: abnormal antigen presentation def: "aberration in the process by which by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex" [GO:0019882] synonym: "antigen presentation dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001836 name: abnormal antigen presentation via MHC class I def: "anomaly in the process by which peptide, bound to major histocompatibility complex class I, is presented to lymphocytes at the surface of antigen presenting cells" [MGI:cwg] synonym: "inability to present cytosolic antigens to Class-I restricted cytotoxic T cells" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation [Term] id: MP:0001837 name: defective assembly of class I molecules def: "impaired production of major histocompatibility complex class I molecules" [MGI:cwg] is_a: MP:0001836 ! abnormal antigen presentation via MHC class I [Term] id: MP:0001838 name: defective intracellular transport of class I molecules def: "impaired ability to move major histocompatibility complex class I molecules to the cell surface" [MGI:cwg] is_a: MP:0001836 ! abnormal antigen presentation via MHC class I [Term] id: MP:0001839 name: abnormal level of surface class I molecules def: "deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface" [ISBN:0-8153-1691-7, MGI:cwg] comment: Almost all nucleated blood cells express class I molecules on their surfaces (red blood cells, being non-nucleated, do not); MHC class I molecules present peptides from pathogens in the cytosol (often viruses) to CD8 T cells. is_a: MP:0001836 ! abnormal antigen presentation via MHC class I [Term] id: MP:0001840 name: increased level of surface class I molecules def: "greater than normal expression of major histocompatibility complex class I molecules at the cell surface" [MGI:cwg] is_a: MP:0001839 ! abnormal level of surface class I molecules [Term] id: MP:0001841 name: decreased level of surface class I molecules def: "reduced expression of major histocompatibility complex class I molecules at the cell surface" [MGI:cwg] synonym: "reduced level of surface class I molecules" EXACT [] is_a: MP:0001839 ! abnormal level of surface class I molecules [Term] id: MP:0001842 name: inability to present cytosolic antigens to Class-I restricted cytotoxic T cells def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001844 name: autoimmune response def: "condition in which cells and/or antibodies arise from and are directed against one's own tissues" [ISBN:0-683-40008-8] is_a: MP:0005005 ! abnormal self tolerance [Term] id: MP:0001845 name: abnormal inflammatory response def: "aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues" [ISBN:0-397-51047-0] synonym: "inflammation" EXACT [] synonym: "inflammatory response" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001846 name: increased inflammatory response def: "greater than expected response to injury, infection, or insult" [MGI:cwg] is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0001847 name: brain inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the brain" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "encephalitis" EXACT [] is_a: MP:0006082 ! CNS inflammation [Term] id: MP:0001848 name: choroid inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [ISBN:0-8153-1691-7] synonym: "choroiditis" EXACT [] is_a: MP:0001851 ! eye inflammation [Term] id: MP:0001849 name: ear inflammation def: "local accumulation of fluid, plasma proteins and leukocytes in the ear" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0001850 name: increased susceptibility to otitis media alt_id: MP:0000050 def: "greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection" [ISBN:0-683-40008-8, PMID:10716451] is_a: MP:0001849 ! ear inflammation [Term] id: MP:0001851 name: eye inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the eye" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001852 name: conjunctivitis alt_id: MP:0001311 def: "inflammation of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball" [ISBN:0-683-40008-8, PMID:10716451] is_a: MP:0001310 ! abnormal conjunctiva morphology is_a: MP:0001851 ! eye inflammation [Term] id: MP:0001853 name: heart inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the heart" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "cardiac inflammation" EXACT [] synonym: "carditis" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001854 name: atrial endocarditis def: "inflammation affecting the atrial chambers of the heart" [MGI:cwg] is_a: MP:0001853 ! heart inflammation [Term] id: MP:0001855 name: atrial thrombosis def: "formation or presence of a thrombus in the atria of the heart" [MGI:cwg] is_a: MP:0005048 ! thrombosis [Term] id: MP:0001856 name: myocarditis def: "inflammation of the heart walls" [MESH:C14.280.238.625, MGI:cwg] is_a: MP:0001853 ! heart inflammation [Term] id: MP:0001857 name: pericarditis def: "inflammation of the pericardium, the fibroserous sac surrounding the heart and the roots of the great vessels" [MESH:C14.280.720, MGI:cwg] is_a: MP:0001853 ! heart inflammation [Term] id: MP:0001858 name: intestinal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the intestine" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "g.i. inflammation" BROAD [] synonym: "gastrointestinal inflammation" BROAD [] synonym: "inflammation of intestine" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0010155 ! abnormal intestine physiology [Term] id: MP:0001859 name: kidney inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "nephritis" EXACT [] synonym: "renal inflammation" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0001860 name: liver inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the liver" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "hepatic inflammation" EXACT [] synonym: "hepatitis" EXACT [] is_a: MP:0000609 ! abnormal liver physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001861 name: lung inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "pneumonia" EXACT [] synonym: "pulmonary inflammation" EXACT [] is_a: MP:0002405 ! respiratory system inflammation [Term] id: MP:0001862 name: interstitial pneumonia def: "any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma" [ISBN:0-683-40008-8] synonym: "interstitial pneumonitis" EXACT [] is_a: MP:0001861 ! lung inflammation [Term] id: MP:0001863 name: vascular inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001864 name: vasculitis def: "inflammation of a blood or lymph vessel" [ISBN:0-683-40008-8, MGI:cwg] synonym: "angiitis" EXACT [] is_a: MP:0001863 ! vascular inflammation [Term] id: MP:0001866 name: nasal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002405 ! respiratory system inflammation [Term] id: MP:0001867 name: rhinitis alt_id: MP:0001113 def: "inflammation of the mucous membrane of the nose" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "nasal catarrh" EXACT [] is_a: MP:0001866 ! nasal inflammation [Term] id: MP:0001868 name: ovary inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the ovary" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "oophoritis" EXACT [] synonym: "ovarian inflammation" EXACT [] is_a: MP:0002254 ! reproductive system inflammation is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001869 name: pancreas inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the pancreas" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "pancreatic inflammation" EXACT [] synonym: "pancreatitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0001870 name: salivary gland inflammation alt_id: MP:0000625 alt_id: MP:0000626 alt_id: MP:001871 def: "local accumulation of fluid, plasma proteins, and leukocytes in the salivary gland" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "increased inflammatory response of the salivary glands" EXACT [] synonym: "sialadenitis" EXACT [] synonym: "sialoadenitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005310 ! abnormal salivary gland physiology [Term] id: MP:0001872 name: sinus inflammation def: "increase in susceptibility of the hollow cavities in bone (usually but not exclusively those in the skull) to allergens and/or pathogens" [MGI:tc, PMID:10716451] synonym: "sinusitis" EXACT [] is_a: MP:0002405 ! respiratory system inflammation [Term] id: MP:0001873 name: stomach inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the stomach" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "gastritis" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001874 name: acanthosis def: "diffuse hyperplasia of the spinous layer of the skin" [ISBN:0-683-40008-8, MGI:cwg] synonym: "spinous layer hyperplasia" BROAD [] is_a: MP:0009611 ! epidermis stratum spinosum hyperplasia [Term] id: MP:0001875 name: testis inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the testis" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "orchitis" EXACT [] synonym: "testicle inflammation" EXACT [] synonym: "testicular inflammation" EXACT [] is_a: MP:0002254 ! reproductive system inflammation is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001876 name: decreased inflammatory response def: "less than expected response to injury, infection, or insult" [MGI:cwg] synonym: "reduced inflammatory response" EXACT [] is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0001877 name: dysregulated inflammatory response def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001879 name: abnormal lymphatic vessel morphology alt_id: MP:0000309 alt_id: MP:0001638 alt_id: MP:0001639 def: "any structural anomaly of the network of vessels which carries lymph around the body" [ISBN:0-683-40008-8, MGI:tc] synonym: "lymphatic system abnormalities" BROAD [] synonym: "lymphatic system dysplasia" EXACT [] is_a: MP:0000685 ! abnormal immune system morphology [Term] id: MP:0001881 name: abnormal mammary gland physiology def: "any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast" [ISBN:0-683-40008-8] synonym: "abnormal mammary gland function" EXACT [] synonym: "mammary gland abnormalities" BROAD [] is_a: MP:0002164 ! abnormal gland physiology is_a: MP:0003699 ! abnormal female reproductive system physiology is_a: MP:0010680 ! abnormal skin adnexa physiology [Term] id: MP:0001882 name: abnormal lactation alt_id: MP:0001383 def: "atypical production of milk from the mammary gland" [J:51296] synonym: "lactation abnormalities" EXACT [] synonym: "lactation defects" EXACT [] is_a: MP:0001881 ! abnormal mammary gland physiology [Term] id: MP:0001883 name: mammary adenocarcinoma alt_id: MP:0002011 def: "higher than normal incidence of malignant tumors of the mammary gland" [J:62919] synonym: "mammary carcinoma" EXACT [] synonym: "mammary gland adenocarcinoma" EXACT [] synonym: "mammary gland carcinoma" EXACT [] is_a: MP:0009308 ! adenocarcinoma is_a: MP:0010299 ! increased mammary gland tumor incidence [Term] id: MP:0001884 name: mammary gland alveolar hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the sac-like structure of the mammary gland that secretes milk after pregnancy" [MGI:csmith] synonym: "mammary alveolar hyperplasia" EXACT [] is_a: MP:0009506 ! abnormal mammary gland alveolus morphology [Term] id: MP:0001885 name: mammary gland duct hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the tubular structure running from the nipple to the alveoli clusters in the mammary gland" [MGI:csmith] synonym: "mammary ductal hyperplasia" RELATED [] is_a: MP:0009503 ! abnormal mammary gland duct morphology [Term] id: MP:0001886 name: nervous system physiology abnormalities def: "OBSOLETE." [MGI:csmith] synonym: "abnormal nervous system physiology" EXACT [] is_obsolete: true replaced_by: MP:0003633 [Term] id: MP:0001889 name: delayed brain development def: "the delay or slower progress of the growth and differentiation of the brain" [J:81818, MGI:il] synonym: "developmental retardation of the brain" EXACT [] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0001890 name: anencephaly alt_id: Fyler:4332 alt_id: MP:0000915 def: "absence of the bones of the cranial vault and absent or rudimentary cerebral and cerebellar hemispheres, brainstem, and basal ganglia" [ISBN:0-683-40008-8, J:31571] subset: CvDC_Terms is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0001891 name: hydroencephaly alt_id: MP:0000916 def: "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [ISBN:0-683-40008-8, MESH:C10.228.140.602] subset: Sanger_Terms synonym: "hydrocephalus" EXACT [] synonym: "Hydrocephaly" EXACT [] is_a: MP:0000913 ! abnormal brain development is_a: MP:0002200 ! abnormal brain ventricle/choroid plexus morphology [Term] id: MP:0001893 name: non-obstructive hydrocephaly alt_id: MP:0000918 def: "abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system" [ISBN:0-683-40008-8, MGI:csmith] synonym: "Communicating Hydrocephalus" EXACT [] synonym: "communicating hydrocephaly" EXACT [] is_a: MP:0001891 ! hydroencephaly [Term] id: MP:0001895 name: abnormal hippocampus function def: "OBSOLETE. any anomaly in the activity of the deep lying structure of the cerebrum involved with memory storage" [MGI:hdene] is_obsolete: true [Term] id: MP:0001898 name: abnormal long term depression alt_id: MP:0001474 def: "change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [ISBN:0838580343, MGI:csmith] synonym: "abnormal long-term depression" EXACT [] synonym: "abnormal LTD" EXACT [] is_a: MP:0002915 ! abnormal synaptic depression [Term] id: MP:0001899 name: absent long term depression def: "lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons" [ISBN:0838580343, MGI:csmith] synonym: "absent long-term depression" EXACT [] synonym: "absent LTD" EXACT [] is_a: MP:0001898 ! abnormal long term depression [Term] id: MP:0001900 name: impaired synaptic plasticity def: "decrease or inability of a synapse to change its strength as a result of successive activations" [ISBN:0838580343, MGI:csmith] is_a: MP:0004859 ! abnormal synaptic plasticity [Term] id: MP:0001901 name: absence of NMDA-mediated synaptic currents def: "absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors" [MGI:csmith] synonym: "absence of NMDA -mediated synaptic currents: CA1 region" EXACT [] is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0001902 name: reduced NMDA-mediated synaptic currents def: "reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors" [MGI:csmith] synonym: "reduced NMDA -mediated synaptic currents: CA1 region" EXACT [] is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0001903 name: reduced NMDA receptor glycine affinity: hippocampus def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001904 name: impaired GABA receptor mediated fast inhibition def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001905 name: abnormal dopamine level def: "greater or less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary" [MESH:D02.092.211.215.311.342, MGI:cwg] synonym: "abnormal dopaminergic levels" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology is_a: MP:0011479 ! abnormal catecholamine level [Term] id: MP:0001906 name: increased dopamine level def: "greater than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary" [MESH:D02.092.211.215.311.342, MGI:cwg] synonym: "increased dopaminergic levels" EXACT [] is_a: MP:0001905 ! abnormal dopamine level [Term] id: MP:0001907 name: abnormal cerebellar function def: "OBSOLETE. any anomaly in the activity of the portion of the brain in the back of the head between the cerebrum and the pons that controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills" [MGI:cwg] is_obsolete: true [Term] id: MP:0001908 name: abnormal somatosensory cortex physiology def: "any functional anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface" [ISBN:0-683-40008-8, MESH:A08.186.211.730.885.287.500.670.675] synonym: "abnormal somatic sensory cortex function" EXACT [] synonym: "abnormal somatic sensory cortex physiology" EXACT [] synonym: "abnormal somatosensory cortex function" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0001909 name: reduced NMDA receptor mediated synaptic activity in barrel cortex def: "lower than normal levels of excitatory synaptic current in the barrel cortex" [ISBN:0838580343, J:64064] is_a: MP:0001908 ! abnormal somatosensory cortex physiology is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0001911 name: abnormal cerebrospinal fluid production def: "anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord" [ISBN:0-683-40008-8] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0001912 name: increased cerebrospinal fluid production def: "increase in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord" [ISBN:0-683-40008-8] is_a: MP:0001911 ! abnormal cerebrospinal fluid production [Term] id: MP:0001913 name: decreased cerebrospinal fluid production def: "reduction in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord" [ISBN:0-683-40008-8] synonym: "reduced cerebrospinal fluid production" EXACT [] is_a: MP:0001911 ! abnormal cerebrospinal fluid production [Term] id: MP:0001914 name: hemorrhage alt_id: MP:0001635 def: "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "bleeding" EXACT [] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001915 name: intracranial hemorrhage def: "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MGI:csmith] synonym: "intracranial bleeding" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0001916 name: intracerebral hemorrhage def: "bleeding within the cerebrum" [MGI:cwg] synonym: "cerebral hemorrhage" EXACT [] synonym: "intracerebral bleeding" EXACT [] is_a: MP:0001915 ! intracranial hemorrhage [Term] id: MP:0001917 name: intraventricular hemorrhage def: "bleeding into the brain ventricles" [MGI:cwg] synonym: "intraventricular bleeding" EXACT [] is_a: MP:0001916 ! intracerebral hemorrhage [Term] id: MP:0001919 name: abnormal reproductive system physiology def: "any functional anomaly of the organs associated with producing offspring" [MGI:csmith] synonym: "reproductive system physiology anomalies" EXACT [] is_a: MP:0005389 ! reproductive system phenotype [Term] id: MP:0001921 name: reduced fertility alt_id: MP:0001372 def: "diminished ability to produce live offspring" [J:65030] synonym: "decreased fecundity" EXACT [] synonym: "hypofertile" EXACT [] synonym: "semi-sterile" EXACT [] synonym: "semisterile" EXACT [] synonym: "subfertile" EXACT [] synonym: "subfertility" EXACT [] is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0001922 name: reduced male fertility def: "reduced ability of male to produce live offspring" [ISBN:0-683-40008-8] synonym: "male subfertility" EXACT [] is_a: MP:0001921 ! reduced fertility is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001923 name: reduced female fertility def: "reduced ability of female to produce live offspring" [ISBN:0-683-40008-8] synonym: "female subfertility" RELATED [] synonym: "low pregnancy rate" NARROW [] is_a: MP:0001921 ! reduced fertility is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001924 name: infertility alt_id: MP:0001371 def: "inability to produce live offspring" [J:47225] synonym: "infertile" EXACT [] synonym: "sterile" EXACT [] synonym: "sterility" EXACT [] is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0001925 name: male infertility def: "inability of male to produce live offspring" [ISBN:0-683-40008-8] synonym: "male infertile" EXACT [] synonym: "male sterile" EXACT [] synonym: "male sterility" EXACT [] is_a: MP:0001924 ! infertility is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001926 name: female infertility def: "inability of female to produce live offspring" [ISBN:0-683-40008-8] synonym: "female infertile" EXACT [] synonym: "female sterile" EXACT [] synonym: "female sterility" EXACT [] is_a: MP:0001924 ! infertility is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001927 name: abnormal estrous cycle def: "failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorbtion of the endometrium if pregnancy does not occur" [MGI:csmith] synonym: "abnormal estrus cycle" EXACT [] synonym: "abnormal oestrous cycle" EXACT [] is_a: MP:0009344 ! abnormal ovulation cycle [Term] id: MP:0001928 name: abnormal ovulation def: "aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone" [MGI:cwg] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001929 name: abnormal gametogenesis def: "defective formation or differentiation of germ cells" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0001930 name: abnormal meiosis def: "anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell" [MGI:csmith] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0001931 name: abnormal oogenesis def: "atypical formation or failure to form the female germ cells" [ISBN:0-683-40008-8, J:35782] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0001932 name: abnormal spermiogenesis def: "anomaly in the process by which a spermatid transforms into a functional spermatozoon" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001156 ! abnormal spermatogenesis [Term] id: MP:0001933 name: abnormal litter size def: "deviation from the normal number of live born pups in a litter" [MGI:cwg] is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0001934 name: increased litter size alt_id: MP:0002290 def: "greater numbers of live born pups in a litter compared to average" [MGI:csmith] synonym: "large litter size" EXACT [] is_a: MP:0001933 ! abnormal litter size [Term] id: MP:0001935 name: decreased litter size alt_id: MP:0002289 def: "fewer live born pups in a litter compared to average" [MGI:csmith] synonym: "reduced litter size" RELATED [] synonym: "small litter size" EXACT [] is_a: MP:0001933 ! abnormal litter size [Term] id: MP:0001937 name: abnormal sexual maturation def: "a delay or a block in the development of the sexual organs at a given age" [MGI:csmith] is_a: MP:0002212 ! abnormal secondary sex determination [Term] id: MP:0001938 name: delayed sexual maturation def: "immaturity of the sexual organs at a given age" [J:61190] synonym: "delayed onset of sexual maturity" EXACT [] synonym: "delayed sexual maturity" EXACT [] is_a: MP:0001937 ! abnormal sexual maturation [Term] id: MP:0001939 name: secondary sex reversal def: "secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex" [MGI:llw2] is_a: MP:0002212 ! abnormal secondary sex determination is_a: MP:0005652 ! sex reversal [Term] id: MP:0001940 name: testis hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the testicles" [ISBN:0-683-40008-8, MGI:csmith] synonym: "hypoplastic testes" EXACT [] synonym: "testes hypoplasia" EXACT [] synonym: "testicle hypoplasia" EXACT [] synonym: "testicular hypoplasia" EXACT [] is_a: MP:0001147 ! small testis [Term] id: MP:0001942 name: abnormal lung volume def: "anomaly in the amount of air that the lungs contain at various points of the respiratory cycle" [MESH:E01.370.386.700.485, MGI:cwg] synonym: "abnormal lung capacity" RELATED [] synonym: "abnormal lung volume measurements" EXACT [] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0001943 name: abnormal respiration alt_id: Fyler:4200 def: "anomaly in the movement of gases into and out of the lung" [ISBN:0-683-40008-8, MGI:cwg] subset: CvDC_Terms synonym: "respiratory anomaly" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0001944 name: abnormal pancreas morphology def: "any structural anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [MESH:A03.734, MGI:il] synonym: "pancreas dysplasia" EXACT [] synonym: "pancreatic dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0001945 name: bronchoconstriction def: "reduction in the caliber of the bronchus or bronchi" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0001947 name: abnormal mucociliary clearance def: "anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands" [MESH:E01.370.386.520, MGI:csmith, MGI:mnk] synonym: "abnormal lung bacterial clearance" NARROW [] synonym: "abnormal lung clearance" EXACT [] synonym: "abnormal mucociliary transport" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0001948 name: vesicoureteral reflux alt_id: Fyler:4510 def: "the retrograde flow of urine from the bladder into the ureters and kidneys" [MGI:pvb] subset: CvDC_Terms synonym: "vesicoureteric reflux" EXACT [] synonym: "VUR" EXACT [] synonym: "VUX" EXACT [] is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0001949 name: abnormal respiratory dead space def: "OBSOLETE. anomaly in the section of the respiratory tract that does not exchange oxygen and carbon dioxide with pulmonary capillary blood" [MESH:G09.772.765.760, MGI:cwg] is_obsolete: true [Term] id: MP:0001950 name: abnormal respiratory sounds def: "any anomaly in the noises heard over any part of the respiratory tract" [MESH:C23.888.852.779] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0001951 name: abnormal breathing pattern alt_id: MP:0001955 def: "irregular or atypical breathing pattern, or absence of breathing" [ISBN:0-683-40008-8, PMID:7914451] synonym: "irregular breathing" EXACT [] is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0001952 name: increased airway responsiveness def: "more easily provoked into bronchoconstriction in bronchial provocation tests" [MGI:cwg] synonym: "airway hyperresponsiveness" EXACT [] is_a: MP:0002334 ! abnormal airway responsiveness [Term] id: MP:0001953 name: respiratory failure def: "cessation of or failure to commence breathing" [J:60159, MGI:csmith] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0001954 name: respiratory distress alt_id: MP:0002317 def: "physical difficulty or inability to breathe; shortness of breath" [ISBN:0-683-40008-8, MESH:C08.618.326, PMID:10357937] synonym: "dyspnea" EXACT [] synonym: "gasping" EXACT [] synonym: "labored breathing" EXACT [] synonym: "shortness of breath" EXACT [] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0001956 name: hypopnea def: "breathing that is shallower and/or slower than normal" [ISBN:0-683-40008-8, J:64289] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0001957 name: apnea def: "temporary cessation of breathing; sometimes episodic" [ISBN:0-683-40008-8, MESH:C08.618.085] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0001958 name: emphysema def: "an abnormal condition of the lung characterized by permanent enlargement of airspaces distal to the terminal bronchioles, accompanied by destruction of their walls and without obvious fibrosis; results in decreased respiratory function including increased air retention and reduced exchange of gases" [ISBN:0-683-40008-8, J:33629] is_a: MP:0002133 ! abnormal respiratory system physiology is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0001959 name: sensory system physiology/response abnormalities def: "OBSOLETE." [MGI:csmith] synonym: "abnormal sensory system physiology/response" EXACT [] xref: GO:0007600 is_obsolete: true [Term] id: MP:0001961 name: abnormal reflex alt_id: MP:0001476 def: "anomaly in an involuntary response to a peripheral stimulus" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0001963 name: abnormal hearing physiology alt_id: MP:0001960 alt_id: MP:0002104 def: "any functional anomaly in the ability to perceive auditory stimuli" [ISBN:0-683-40008-8] synonym: "abnormal auditory perception" EXACT [] synonym: "abnormal auditory physiology" EXACT [] synonym: "auditory abnormalities" BROAD [] synonym: "ears: auditory defects/deafness" EXACT [] xref: GO:0007605 xref: MGI:2173555 is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0001964 name: abnormal auditory threshold def: "OBSOLETE. change in the average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency" [MGI:pvb] xref: GO:0007605 is_obsolete: true consider: MP:0006335 [Term] id: MP:0001965 name: increased auditory threshold def: "OBSOLETE. a greater than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency" [MGI:pvb] synonym: "hearing disability" EXACT [] synonym: "hearing impairment" EXACT [] is_obsolete: true consider: MP:0006335 [Term] id: MP:0001966 name: decreased auditory threshold def: "OBSOLETE. a lower than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency" [MGI:pvb] synonym: "hypersensitive hearing" EXACT [] is_obsolete: true consider: MP:0006335 [Term] id: MP:0001967 name: deafness alt_id: Fyler:4868 def: "inability to hear; the ability to detect and/or recognize certain frequencies of sound is completely impaired" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "complete hearing loss" EXACT [] synonym: "impaired perception of sound" EXACT [] synonym: "impaired sensory perception of sound" EXACT [] xref: GO:0007605 is_a: MP:0006325 ! impaired hearing [Term] id: MP:0001968 name: abnormal touch/ nociception def: "change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes" [MGI:cwg] synonym: "touch/ nociception abnormalities" EXACT [] synonym: "touch/ nociception defects" EXACT [] is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception is_a: MP:0010771 ! integument phenotype [Term] id: MP:0001970 name: abnormal pain threshold def: "increased or decreased average level of perception of pain" [J:17792] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0001973 name: increased thermal nociceptive threshold def: "a greater than average point at which thermal pain sensation is first detectable" [ISBN:0-471-31639-3] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased thermal nociception" EXACT [] synonym: "prolonged latency in hot plate test" EXACT [] synonym: "thermal hypoalgesia" EXACT [] is_a: MP:0002733 ! abnormal thermal nociception is_a: MP:0003043 ! hypoalgesia [Term] id: MP:0001974 name: toe pinch def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001975 name: tail pinch def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001977 name: tail flick def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001978 name: prolonged latency in tail flick test def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001980 name: abnormal chemically-elicited antinociception def: "change in the analgesic effect of chemical substances" [MGI:cwg] synonym: "abnormal chemically-elicited analgesia" EXACT [] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0001981 name: increased chemically-elicited antinociception def: "greater than the normal analgesic effect of chemical substances" [MGI:cwg] synonym: "enhanced chemically-elicited antinociception" EXACT [] synonym: "enhanced chemically-induced analgesia" EXACT [] is_a: MP:0001980 ! abnormal chemically-elicited antinociception [Term] id: MP:0001982 name: decreased chemically-elicited antinociception def: "less than the normal analgesic effect of chemical substances" [MGI:cwg] synonym: "reduced chemically-elicited antinociception" EXACT [] synonym: "reduced chemically-induced analgesia" EXACT [] is_a: MP:0001980 ! abnormal chemically-elicited antinociception [Term] id: MP:0001983 name: abnormal olfactory system physiology alt_id: MP:0001110 alt_id: MP:0001111 def: "any functional anomaly of the system relating to smell" [MGI:cwg] synonym: "abnormal olfactory system function" EXACT [] synonym: "olfactory abnormalities" BROAD [] synonym: "olfactory defects" BROAD [] synonym: "olfactory system abnormalities" BROAD [] is_a: MP:0005394 ! taste/olfaction phenotype [Term] id: MP:0001984 name: abnormal olfaction def: "anomaly in the ability to smell" [ISBN:0-683-40008-8] synonym: "parosmia" NARROW [] is_a: MP:0001983 ! abnormal olfactory system physiology [Term] id: MP:0001985 name: abnormal gustatory system physiology def: "any functional anomaly in the perception of taste" [ISBN:0-683-40008-8] synonym: "abnormal taste physiology" EXACT [] synonym: "abnormal taste response" EXACT [] is_a: MP:0005394 ! taste/olfaction phenotype [Term] id: MP:0001986 name: abnormal taste sensitivity def: "changes in the ability to perceive a particular flavor or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system" [MGI:csmith] is_a: MP:0001985 ! abnormal gustatory system physiology [Term] id: MP:0001987 name: alcohol preference def: "predilection to ingest alcohol over other substances" [MGI:csmith] synonym: "ethanol preference" EXACT [] is_a: MP:0001423 ! abnormal liquid preference is_a: MP:0001425 ! abnormal alcohol consumption is_a: MP:0002553 ! preference for addictive substance [Term] id: MP:0001988 name: cocaine preference def: "predilection to ingest cocaine over other substances" [MGI:csmith] is_a: MP:0002553 ! preference for addictive substance is_a: MP:0002556 ! abnormal cocaine consumption [Term] id: MP:0001989 name: saccharin versus water def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001990 name: water versus saccharin def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0001993 name: abnormal blinking alt_id: MP:0001478 def: "anomaly in the normal reflex of closing the eyes frequently and rapidly" [MGI:smb] subset: Europhenome_Terms synonym: "blinking abnormalities" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001994 name: increased blinking frequency alt_id: MP:0001479 def: "greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly" [MGI:csmith] subset: Europhenome_Terms synonym: "increased blinking" EXACT [] is_a: MP:0001993 ! abnormal blinking [Term] id: MP:0001995 name: decreased blinking frequency alt_id: MP:0001480 def: "reduced number of occurrences of the normal reflex of closing the eyes frequently and rapidly" [MGI:csmith] subset: Europhenome_Terms synonym: "decreased blinking" EXACT [] synonym: "reduced blinking frequency" RELATED [] is_a: MP:0001993 ! abnormal blinking [Term] id: MP:0001997 name: Increased Pupil Constriction def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002638 [Term] id: MP:0001998 name: Decreased Pupil Constriction def: "OBSOLETE." [MGI:csmith] is_obsolete: true consider: MP:0002638 [Term] id: MP:0001999 name: photosensitivity alt_id: MP:0001484 def: "alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes" [ISBN:0-683-40008-8, MGI:cwg] synonym: "photosensitivity abnormalities" EXACT [] is_a: MP:0001764 ! abnormal homeostasis is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0002001 name: blindness alt_id: Fyler:4866 def: "loss of the sense of sight" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0002090 ! abnormal vision [Term] id: MP:0002002 name: abnormal response to visual cliff def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002003 name: miotic pupils alt_id: MP:0001481 alt_id: MP:0001996 def: "contraction of the pupils" [J:17194] synonym: "abnormal pupil constriction" EXACT [] synonym: "meiotic pupils" RELATED [] synonym: "myotic pupils" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0002006 name: tumorigenesis is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0002007 name: increased cellular sensitivity to gamma-irradiation def: "increased incidence of cell death following exposure to high levels of gamma-irradiation" [MGI:smb] synonym: "decreased cellular resistance to gamma-irradiation" EXACT [] synonym: "increased cellular susceptibility to gamma-irradiation" EXACT [] is_a: MP:0004227 ! increased cellular sensitivity to ionizing radiation [Term] id: MP:0002009 name: preneoplasia def: "state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development" [J:47225] is_a: MP:0002166 ! altered tumor susceptibility [Term] id: MP:0002010 name: hepatic microgranulomas def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002012 name: increased trichofolliculoma incidence def: "greater than the expected number of tumors which contain multiple abortive and/or misaligned hair follicles" [J:51296] is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002013 name: increased pilomatricoma incidence def: "greater than the expected number of neoplasms that arise from hair matrix cells occurring in a specific population in a given time period; pilomatricoma is an encapsulated tumor containing irregularly shaped, lobules of cells separated by fibrovascular connective tissue stroma; two distinct cell populations comprise this tumor, basaloid cells with scant cytoplasm located towards the periphery and the ghost (or shadow) cells occupying the central portion" [http://atlasgeneticsoncology.org/Tumors/PilomatricomaID5153.html, MGI:csmith] synonym: "calcifying epithelioma" EXACT [] synonym: "calcifying epithelioma of Malherbe" EXACT [] synonym: "epithelioma of Malherbe" EXACT [] synonym: "pilomatrixoma" EXACT [] synonym: "trichomatricoma" EXACT [] is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002014 name: increased papilloma incidence def: "greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period" [MPATH:445] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002015 name: epithelioid cysts def: "abnormal membranous sacs appearing in an epithelium" [J:51296] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0002016 name: ovary cysts def: "cystic ovary; usually refers to a benign growth" [ISBN:0-683-40008-8, J:35782] synonym: "cystic ovary" EXACT [] synonym: "dermoid cysts" EXACT [] synonym: "ovarian cysts" EXACT [] is_a: MP:0001126 ! abnormal ovary morphology [Term] id: MP:0002018 name: malignant tumors def: "higher than normal incidence of locally invasive, destructive and metastatic tumors" [ISBN:0-683-40008-8, J:44427] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002019 name: abnormal tumor incidence def: "deviation from the expected number of abnormal growths in a specific population" [MGI:cwg] is_a: MP:0002166 ! altered tumor susceptibility [Term] id: MP:0002020 name: increased tumor incidence alt_id: MP:0002017 def: "greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type" [MESH:E05.318.308.985.525.375, MGI:csmith] synonym: "increased neoplasm incidence" EXACT [] synonym: "spontaneous tumor" EXACT [] is_a: MP:0002019 ! abnormal tumor incidence [Term] id: MP:0002021 name: increased incidence of induced tumors def: "higher than normal frequency of tumor incidence induced by a carcinogen or mutagen" [J:44427] is_a: MP:0002020 ! increased tumor incidence [Term] id: MP:0002022 name: increased lymphoma incidence def: "greater than the expected occurrence of a neoplasm of any lymphoid tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "lymphoid tumor" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010296 ! increased hemolymphoid system tumor incidence [Term] id: MP:0002023 name: B cell derived lymphoma def: "heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes" [MESH:C04.557.386.480.150] synonym: "B-cell derived lymphoma" EXACT [] is_a: MP:0002022 ! increased lymphoma incidence [Term] id: MP:0002024 name: T cell derived lymphoma alt_id: MP:0003832 alt_id: MP:0005234 def: "group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes" [MESH:C04.557.386.480.750] synonym: "T-cell derived lymphoma" EXACT [] synonym: "thymic lymphoma" RELATED [] synonym: "thymic tumor" RELATED [] synonym: "thymoma" EXACT [] synonym: "thymus tumor" RELATED [] is_a: MP:0002022 ! increased lymphoma incidence is_a: MP:0010365 ! increased thymus tumor incidence [Term] id: MP:0002025 name: B cell/T cell derived lymphoma def: "OBSOLETE. group of heterogeneous lymphoid tumors representing malignant transformations of both B-lymphocytes and T-lymphocytes" [MGI:csmith] synonym: "B-cell/T-cell derived lymphoma" EXACT [] is_obsolete: true [Term] id: MP:0002026 name: leukemia def: "progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood" [ISBN:0-683-40008-8, J:18542] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010296 ! increased hemolymphoid system tumor incidence [Term] id: MP:0002027 name: lung adenocarcinoma def: "malignant neoplasm of epithelial cells in the lung, usually with a glandular organization" [ISBN:0-683-40008-8, J:18542] is_a: MP:0008716 ! lung non-small cell carcinoma is_a: MP:0009308 ! adenocarcinoma [Term] id: MP:0002030 name: increased neurofibrosarcoma incidence alt_id: MP:0002034 def: "greater than the expected number of a highly aggressive malignant neoplasm arising from the fibrous connective tissue surrounding peripheral nerves, in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "increased fibroblastic neurosarcoma incidence" EXACT [] synonym: "malignant neurolemmoma" RELATED [] synonym: "malignant peripheral nerve sheath tumors" EXACT [] synonym: "MPNSTs" EXACT [] synonym: "peripheral nerve sheath tumor" EXACT [] is_a: MP:0010281 ! increased nervous system tumor incidence is_a: MP:0010363 ! increased fibrosarcoma incidence [Term] id: MP:0002031 name: increased adrenal gland tumor incidence def: "greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period" [ISBN:0-683-40008-8, J:18542] is_a: MP:0010288 ! increased gland tumor incidence [Term] id: MP:0002032 name: sarcoma def: "connective tissue neoplasm associated with the proliferation of mesodermal cells" [ISBN:0-683-40008-8, J:58877] is_a: MP:0002018 ! malignant tumors [Term] id: MP:0002033 name: malignant triton tumors def: "malignant tumor with neurogenic and myogenic differentiation; usually arises in tissues of neural crest origin" [ISBN:0-683-40008-8, J:58877] synonym: "MTTs" EXACT [] is_a: MP:0002018 ! malignant tumors [Term] id: MP:0002035 name: leiomyosarcoma def: "malignant tumor derived from smooth (nonstriated) muscle" [ISBN:0-683-40008-8, J:58877] is_a: MP:0002032 ! sarcoma is_a: MP:0010290 ! increased muscle tumor incidence [Term] id: MP:0002036 name: rhabdomyosarcoma def: "malignant tumor derived from skeletal (striated) muscle" [ISBN:0-683-40008-8, J:58877] is_a: MP:0002032 ! sarcoma is_a: MP:0010290 ! increased muscle tumor incidence [Term] id: MP:0002037 name: increased fibrohistocytoma incidence def: "greater than the expected number of slowly growing skin nodules derived from cellular fibrous tissue occurring in a specific population in a given time period; these often surround capillaries" [ISBN:0-683-40008-8] synonym: "dermatofibroma" EXACT [] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002038 name: carcinoma def: "presence of a malignant neoplasm arising from epithelial cells, usually glandular or squamous" [ISBN:0-683-40008-8, J:58877] is_a: MP:0002018 ! malignant tumors [Term] id: MP:0002039 name: neuroblastoma def: "malignant neoplasm characterized by immature nerve cells of embryonic type" [ISBN:0-683-40008-8, J:58877] is_a: MP:0008021 ! blastoma is_a: MP:0010281 ! increased nervous system tumor incidence [Term] id: MP:0002041 name: increased pituitary adenoma incidence def: "greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] is_a: MP:0010320 ! increased pituitary gland tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002042 name: hemotologic neoplasia def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002043 name: colonic hamartoma def: "tumor-like focal abnormalities of the intestines; rarely neoplastic" [J:47050] is_a: MP:0010279 ! increased gastrointestinal tumor incidence is_a: MP:0010306 ! increased hamartoma incidence [Term] id: MP:0002044 name: increased colonic adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period" [MGI:csmith] synonym: "increased colon adenoma incidence" EXACT [] synonym: "increased colonic adenomata incidence" EXACT [] is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002045 name: increased renal cystadenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising in the kidney, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased kidney cystadenoma incidence" EXACT [] synonym: "increased kidney cystoma incidence" EXACT [] synonym: "increased renal cystoma incidence" EXACT [] is_a: MP:0010294 ! increased kidney tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002047 name: hepatic hemangioma def: "neoplastic- like masses in the liver; often undergoes spontaneous regression" [ISBN:0-683-40008-8, J:57631] synonym: "liver angioma" EXACT [] is_a: MP:0002947 ! hemangioma is_a: MP:0008019 ! increased liver tumor incidence [Term] id: MP:0002048 name: increased lung adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, J:57631] is_a: MP:0008014 ! increased lung tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002049 name: extremity angiosarcoma def: "malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels" [ISBN:0-683-40008-8, J:57631] is_a: MP:0003667 ! hemangiosarcoma [Term] id: MP:0002050 name: pheochromocytoma def: "a benign neoplasm derived from adrenal medullary cells; usually associated with hypertension" [ISBN:0-683-40008-8] is_a: MP:0002031 ! increased adrenal gland tumor incidence [Term] id: MP:0002051 name: skin papilloma def: "a circumscribed, benign epithelial tumor projecting from the surrounding surface" [ISBN:0-683-40008-8] is_a: MP:0002014 ! increased papilloma incidence is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002052 name: decreased tumor incidence alt_id: MP:0005514 def: "less than the expected number of neoplasms in a specific population in a given time period" [MESH:E05.318.308.985.525.375, MGI:cwg] synonym: "decreased neoplasm incidence" EXACT [] synonym: "decreased susceptibility to neoplasm development" RELATED [] synonym: "decreased susceptibility to tumor development" RELATED [] synonym: "increased resistance to neoplasm development" EXACT [] synonym: "increased resistance to tumor development" EXACT [] synonym: "reduced tumor incidence" EXACT [] is_a: MP:0002019 ! abnormal tumor incidence [Term] id: MP:0002053 name: decreased incidence of induced tumors def: "reduced frequency of tumor incidence induced by a carcinogen or mutagen" [J:56886] synonym: "reduced incidence of induced tumors" EXACT [] is_a: MP:0002052 ! decreased tumor incidence [Term] id: MP:0002054 name: disease states def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002055 name: Diabetes def: "OBSOLETE. either insipidus or mellitus. Having in common the symptoms of polyuria" [ISBN:0-683-40008-8, MGI:cml] comment: This is really a disease term; see OMIM for numerous types of this disease. is_obsolete: true [Term] id: MP:0002056 name: Insulin dependent diabetes def: "Obsolete. Characterized by polydipsia, polyuria, increased appetite, weight loss, low plasma insulin levels, and episodic ketoacidosis" [ISBN:0-683-40008-8, MGI:cml] comment: This is really a disease term; see OMIM:222100. synonym: "IDDM" EXACT [] synonym: "Juvenile diabetes" EXACT [] synonym: "Type I diabetes" EXACT [] is_obsolete: true [Term] id: MP:0002057 name: Non-insulin dependent diabetes def: "OBSOLETE. Type II, adult onset. mild form gradual onset, usually in obese individuals. Plasma insulin levels are normal to high , but low in relation to plasma glucose levels. Responsive to dietary regulation or oral hypoglycemic agents, but diabetic complications and degenerative changes can develop" [ISBN:0-683-40008-8, MGI:cml] comment: This is really a disease term; see OMIM:125853. synonym: "NIDDM" EXACT [] synonym: "Type II, adult onset diabetes" EXACT [] is_obsolete: true [Term] id: MP:0002058 name: neonatal lethality def: "death within the neonatal period after birth (Mus: P0)" [ISBN:0-683-40008-8, MGI:csmith] synonym: "neonatal death" EXACT [] is_a: MP:0002081 ! perinatal lethality [Term] id: MP:0002059 name: abnormal seminal vesicle morphology alt_id: MP:0000656 def: "any structural anomaly of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [ISBN:0-683-40008-8] synonym: "abnormal seminal gland morphology" EXACT [] synonym: "abnormal seminal vesicles morphology" EXACT [] synonym: "seminal gland dysplasia" EXACT [] synonym: "seminal vesicle dysplasia" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0002060 name: abnormal skin morphology alt_id: Fyler:4133 def: "any structural anomaly of the membranous protective covering of the body" [ISBN:0-683-40008-8, PMID:10469309] subset: CvDC_Terms subset: Europhenome_Terms synonym: "abnormal cutis morphology" EXACT [] synonym: "abnormal skin anatomy" EXACT [] synonym: "skin dysplasia" EXACT [] is_a: MP:0010771 ! integument phenotype [Term] id: MP:0002061 name: abnormal aggression-related behavior alt_id: MP:0001352 def: "domineering, assaultive or forceful physical action" [MGI:csmith] subset: Europhenome_Terms synonym: "hostility related behavior" EXACT [] synonym: "neurological/behavioral: aggression" EXACT [] xref: MGI:2173566 is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0002062 name: abnormal associative learning def: "anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment" [MGI:csmith] synonym: "abnormal conditioning behavior" EXACT [] synonym: "neurological/behavioral: conditioning defect" EXACT [] xref: MGI:2173567 is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0002063 name: abnormal learning/memory/conditioning def: "altered ability to receive, store, process or recall informational stimuli" [MGI:csmith] synonym: "neurological/behavioral: learning/memory anomalies" EXACT [] synonym: "neurological/behavioral: learning/memory impairment" EXACT [] xref: MGI:2173568 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002064 name: seizures alt_id: MP:0000946 alt_id: MP:0001493 def: "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [MGI:csmith] synonym: "neurological/behavioral: seizures/epilepsy" BROAD [] synonym: "seizures/epilepsy" BROAD [] xref: MGI:2173569 is_a: MP:0003633 ! abnormal nervous system physiology is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002065 name: abnormal fear/anxiety-related behavior def: "altered response in tests for fear or anxiety related behaviors" [MGI:csmith] synonym: "abnormal fear/anxiety behavior" EXACT [] synonym: "neurological/behavioral: fear/anxiety" EXACT [] xref: MGI:2173570 is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0002066 name: abnormal motor capabilities/coordination/movement def: "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [MGI:csmith] synonym: "neurological/behavioral: motor capabilities/coordination/movement anomalies" EXACT [] xref: MGI:2173571 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002067 name: abnormal sensory capabilities/reflexes/nociception def: "inability or altered ability to respond to a sensory stimulus" [MGI:csmith] synonym: "neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities" EXACT [] xref: MGI:2173572 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002068 name: abnormal parental behavior def: "altered behavior of animals that affects the ability of offspring to survive" [MGI:csmith] synonym: "neurological/behavioral: parental behavior anomalies" EXACT [] xref: MGI:2173573 is_a: MP:0002557 ! abnormal social/conspecific interaction [Term] id: MP:0002069 name: abnormal eating/drinking behavior def: "altered ability or inability to eat or drink, or unusual choice or avoidance of foods or drink" [MGI:csmith] synonym: "abnormal feeding/drinking behavior" EXACT [] synonym: "neurological/behavioral: feeding/drinking anomalies" EXACT [] xref: MGI:2173574 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002070 name: abnormal sleep pattern/circadian rhythm def: "OBSOLETE. deviation from the normal 24 hour biological activity cycle including the wake/sleep cycle" [MGI:csmith] synonym: "neurological/behavioral: sleep pattern/circadian rhythm anomalies" EXACT [] xref: MGI:2173575 is_obsolete: true consider: MP:0001501 consider: MP:0001502 [Term] id: MP:0002071 name: other abnormal behavior def: "OBSOLETE. abnormal behaviors not attributable to other categories" [MGI:csmith] synonym: "neurological/behavioral: other anomalies" EXACT [] xref: MGI:2173576 is_obsolete: true [Term] id: MP:0002072 name: neurological/behavioral: no defect detected def: "OBSOLETE. no anomaly observed in neurological or behavioral tests" [MGI:csmith] xref: MGI:2173577 is_obsolete: true [Term] id: MP:0002073 name: abnormal hair growth alt_id: MP:0000409 def: "absence or reduced amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern" [MGI:csmith, MGI:llw2] subset: Sanger_Terms synonym: "coat: hair growth defects" EXACT [] synonym: "hair growth abnormalities" EXACT [] xref: MGI:2173539 is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0002074 name: abnormal hair texture alt_id: MP:0002077 def: "irregular or unusual appearance of the structure of the hair" [MGI:csmith] subset: Sanger_Terms synonym: "coat: hair texture defects" EXACT [] synonym: "hair texture abnormalities" EXACT [] xref: MGI:2173540 is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0002075 name: abnormal coat/hair pigmentation alt_id: MP:0000368 def: "irregular or unusual pigmentation of the hair" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal coat color" EXACT [] synonym: "abnormal hair pigmentation" EXACT [] synonym: "coat: color anomalies" EXACT [] xref: MGI:2173541 is_a: MP:0001186 ! pigmentation phenotype is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0002076 name: abnormal hair follicle structure/orientation def: "OBSOLETE. any structural anomaly or misalignment of the epidermis from which the hair shaft develops" [MGI:csmith] synonym: "coat: hair follicle structure/orientation anomalies" EXACT [] xref: MGI:2173542 is_obsolete: true consider: MP:0000377 consider: MP:0000383 [Term] id: MP:0002078 name: abnormal glucose homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues" [MGI:csmith] synonym: "abnormal glucose metabolism" NARROW [] synonym: "metabolism: abnormal glucose homeostasis" EXACT [] xref: MGI:2173579 is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0002079 name: increased circulating insulin level def: "greater than normal levels of insulin in blood" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "hyperinsulinemia" EXACT [] synonym: "hyperinsulinism" EXACT [] is_a: MP:0001560 ! abnormal circulating insulin level [Term] id: MP:0002080 name: prenatal lethality alt_id: MP:0001645 alt_id: MP:0001707 def: "death anytime between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith] comment: Note that the name of this term has previously been embryonic lethality. In many species, the terms prenatal lethality and embryonic lethality are used interchangeably. However, this is not technically correct and we have modified this ontology to define the prenatal period to include the embryonic stages distinctly from the fetal stages. The names embryonic lethality and embryonic death have been retained as a narrow synonyms to aid in searching for those species that may use these terms as synonyms. subset: Sanger_Terms synonym: "antenatal lethality" EXACT [] synonym: "embryonic death" NARROW [] synonym: "embryonic lethality" NARROW [] synonym: "survival: embryonic lethality" NARROW [] synonym: "survival: prenatal lethality" EXACT [] xref: MGI:2173525 is_a: MP:0010769 ! abnormal survival is_a: MP:0010770 ! preweaning lethality [Term] id: MP:0002081 name: perinatal lethality alt_id: MP:0001644 def: "death anytime within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith] synonym: "perinatal death" EXACT [] synonym: "stillborn" BROAD [] synonym: "survival: perinatal lethality" EXACT [] xref: MGI:2173526 is_a: MP:0010769 ! abnormal survival is_a: MP:0010832 ! lethality during fetal growth through weaning [Term] id: MP:0002082 name: postnatal lethality alt_id: MP:0001643 def: "premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith] synonym: "postnatal death" EXACT [] synonym: "survival: postnatal lethality" EXACT [] xref: MGI:2173527 is_a: MP:0010769 ! abnormal survival is_a: MP:0010832 ! lethality during fetal growth through weaning [Term] id: MP:0002083 name: premature death alt_id: MP:0001642 alt_id: MP:0001646 alt_id: MP:0001662 def: "death after weaning age, but before the normal life span (Mus: after 3 weeks of age)" [MGI:csmith] synonym: "abnormal survival/ lethality" EXACT [] synonym: "reduced life span" EXACT [] synonym: "reduced lifespan" EXACT [] synonym: "short life span" EXACT [] synonym: "shorter life span" EXACT [] synonym: "survival: premature death" EXACT [] xref: MGI:2173528 is_a: MP:0010769 ! abnormal survival [Term] id: MP:0002084 name: abnormal developmental patterning alt_id: MP:0001702 def: "abnormal systematic arrangement of the developing body along an axis" [MGI:csmith] synonym: "embryogenesis: developmental patterning abnormalities" EXACT [] xref: MGI:2173529 is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0002085 name: abnormal embryonic tissue morphology alt_id: MP:0001673 def: "any structural anomaly or development of any embryonic tissue resulting in morphological abnormality" [MGI:csmith] synonym: "abnormal embryogenesis" RELATED [] synonym: "embryogenesis: embryonic tissue dysmorphology" EXACT [] synonym: "embryonic tissue dysplasia" EXACT [] xref: MGI:2173530 is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0002086 name: abnormal extraembryonic tissue morphology alt_id: MP:0001708 alt_id: MP:0001709 def: "any structural anomaly of the membranes involved with embryonic protection and nutrition" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal extraembryonic tissues morphology" EXACT [] synonym: "embryogenesis: extraembryonic tissue dysmorphology" EXACT [] synonym: "extraembryonic tissue dysplasia" EXACT [] xref: MGI:2173531 is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0002087 name: embryogenesis: no defect detected def: "OBSOLETE. no anomaly observed in examination of embryonic development" [MGI:csmith] xref: MGI:2173532 is_obsolete: true [Term] id: MP:0002088 name: abnormal embryonic growth/weight/body size def: "limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith] synonym: "growth/weight/body size abnormality: embryonic" EXACT [] xref: MGI:2173533 is_a: MP:0004196 ! abnormal prenatal growth/weight/body size [Term] id: MP:0002089 name: abnormal postnatal growth/weight/body size alt_id: MP:0001252 def: "increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth" [MGI:csmith] subset: Europhenome_Terms synonym: "abnormal trunk/ body shape" EXACT [] synonym: "growth/weight/body size abnormality: postnatal" EXACT [] synonym: "trunk/ body shape abnormalities" EXACT [] xref: GO:0040007 xref: GO:0040014 xref: MGI:2173534 is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0002090 name: abnormal vision alt_id: MP:0001991 alt_id: MP:0002000 def: "inability or decreased ability to see" [MGI:csmith] synonym: "abnormal visual ability" EXACT [] synonym: "eye: visual defects" EXACT [] synonym: "visual defects" EXACT [] xref: MGI:2173535 is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0002091 name: eye: no defect detected def: "OBSOLETE. no anomaly observed in examination of eye tissue" [MGI:csmith] xref: MGI:2173538 is_obsolete: true [Term] id: MP:0002092 name: abnormal eye morphology alt_id: Fyler:4863 alt_id: MP:0001285 alt_id: MP:0001294 alt_id: MP:0001295 alt_id: MP:0004104 def: "any structural anomaly of the spheroid organ and optic nerve that serves to detect light" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms subset: Europhenome_Terms synonym: "abnormal eyes morphology" EXACT [] synonym: "abnormal ocular orb morphology" EXACT [] synonym: "eye abnormalities" BROAD [] synonym: "eye dysplasia" EXACT [] synonym: "eye malformation" EXACT [] synonym: "eye tissue abnormalities" BROAD [] synonym: "eye: dysmorphology" EXACT [] synonym: "ocular dysplasia" EXACT [] synonym: "opthalmic malformation" EXACT [] synonym: "visual system abnormalities" BROAD [] synonym: "visual system defects" BROAD [] xref: GO:0001654 xref: MGI:2173536 is_a: MP:0005391 ! vision/eye phenotype [Term] id: MP:0002093 name: abnormal cornea/lens morphology def: "OBSOLETE. any dysmorphology or complete or partial opacity of the lens or cornea" [MGI:csmith] synonym: "eye: corneal/lens defect" EXACT [] xref: MGI:2173537 is_obsolete: true consider: MP:0001303 consider: MP:0001312 [Term] id: MP:0002094 name: coat: no defect detected def: "OBSOLETE. no anomaly observed in examination of coat" [MGI:csmith] xref: MGI:2173543 is_obsolete: true [Term] id: MP:0002095 name: abnormal skin pigmentation alt_id: MP:0001187 def: "anomaly in the coloration of the skin due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:csmith, MGI:llw2] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal cutaneous pigmentation" EXACT [] synonym: "skin: pigmentation anomalies" EXACT [] xref: MGI:2173544 is_a: MP:0001186 ! pigmentation phenotype is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0002096 name: abnormal skin condition/ morphology alt_id: MP:0001185 def: "OBSOLETE. any structural anomaly or atypical condition of the skin" [MGI:csmith] synonym: "abnormal skin" EXACT [] synonym: "skin abnormalities" EXACT [] synonym: "skin: texture/condition anomalies" EXACT [] xref: MGI:2173545 is_obsolete: true consider: MP:0001191 consider: MP:0002060 [Term] id: MP:0002097 name: skin: no defect detected def: "OBSOLETE. no anomaly observed in examination of skin" [MGI:csmith] xref: MGI:2173546 is_obsolete: true [Term] id: MP:0002098 name: abnormal vibrissa morphology alt_id: MP:0001271 def: "any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors" [MESH:A13.950, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal contour hair morphology" EXACT [] synonym: "abnormal sinus hair morphology" EXACT [] synonym: "abnormal touch hair morphology" EXACT [] synonym: "abnormal vibrissae morphology" EXACT [] synonym: "abnormal whiskers morphology" RELATED [] synonym: "vibrissae abnormalities" BROAD [] synonym: "vibrissae defects" BROAD [] synonym: "vibrissae dysplasia" EXACT [] synonym: "vibrissae: dysmorphology" EXACT [] xref: MGI:2173547 is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0002099 name: vibrissae: no defect detected def: "OBSOLETE. no anomaly observed in examination of whiskers" [MGI:csmith] xref: MGI:2173548 is_obsolete: true [Term] id: MP:0002100 name: abnormal tooth morphology alt_id: MP:0000115 alt_id: MP:0000123 def: "atypical size, shape or hard tissue structure of the teeth" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal teeth morphology" EXACT [] synonym: "abnormal tooth structure" EXACT [] synonym: "teeth abnormalities" BROAD [] synonym: "teeth: tooth dysmorphology" EXACT [] synonym: "tooth dysplasia" EXACT [] xref: MGI:2173553 is_a: MP:0000452 ! abnormal mouth morphology [Term] id: MP:0002101 name: teeth: no defect detected def: "OBSOLETE. no anomaly observed in examination of teeth" [MGI:csmith] xref: MGI:2173554 is_obsolete: true [Term] id: MP:0002102 name: abnormal ear morphology alt_id: Fyler:4867 alt_id: MP:0000014 alt_id: MP:0000016 def: "any structural anomaly of any of the structures involved in the ear or vestibular system" [MGI:csmith] subset: CvDC_Terms subset: Europhenome_Terms synonym: "abnormal auditory/ vestibular system morphology" BROAD [] synonym: "abnormal ear development/ ear malformation" NARROW [] synonym: "auditory/ vestibular system abnormalities" EXACT [] synonym: "auditory/ vestibular system defects" EXACT [] synonym: "ear dysplasia" EXACT [] synonym: "ears: dysmorphology" EXACT [] xref: GO:0042471 xref: MGI:2173556 is_a: MP:0005377 ! hearing/vestibular/ear phenotype [Term] id: MP:0002103 name: ears: no defect detected def: "OBSOLETE. no anomaly observed in examination of auditory tissue or in hearing assessment" [MGI:csmith] xref: MGI:2173557 is_obsolete: true [Term] id: MP:0002106 name: abnormal muscle physiology alt_id: MP:0002105 def: "any functional anomaly of the muscle, not due to an anatomical defect" [MGI:csmith] synonym: "muscle physiology abnormalities" EXACT [] synonym: "musculature: physiological defects" EXACT [] xref: MGI:2173559 is_a: MP:0005369 ! muscle phenotype [Term] id: MP:0002107 name: musculature: no defect detected def: "OBSOLETE. no anomaly observed in examination of muscle tissue or in physiological assessment" [MGI:csmith] xref: MGI:2173560 is_obsolete: true [Term] id: MP:0002108 name: abnormal muscle morphology alt_id: MP:0000728 alt_id: MP:0000735 alt_id: MP:0000758 def: "any structural anomaly of the contractile tissue that produces movement in animals" [MESH:A02.633] synonym: "abnormal musculature morphology" EXACT [] synonym: "muscle abnormalities" BROAD [] synonym: "muscle dysplasia" EXACT [] synonym: "musculature abnormalities" BROAD [] synonym: "musculature: muscle dysmorphology" EXACT [] xref: MGI:2173558 is_a: MP:0005369 ! muscle phenotype [Term] id: MP:0002109 name: abnormal limb morphology alt_id: MP:0000546 def: "any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species" [MGI:csmith] synonym: "extremities: limb dysmorphology" EXACT [] synonym: "limb abnormalities" BROAD [] synonym: "limb dysplasia" EXACT [] xref: MGI:2173549 is_a: MP:0005371 ! limbs/digits/tail phenotype [Term] id: MP:0002110 name: abnormal digit morphology alt_id: MP:0000560 def: "any structural anomaly of the fingers or toes" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal finger morphology" NARROW [] synonym: "abnormal toe morphology" NARROW [] synonym: "digit abnormalities" BROAD [] synonym: "digit dysplasia" EXACT [] synonym: "extremities: digit dysmorphology" EXACT [] xref: MGI:2173550 is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0002111 name: abnormal tail morphology alt_id: MP:0000584 alt_id: MP:0005173 def: "any structural anomaly of the flexible elongated appendage located at the caudal end of the torso in many species; it is usually continuous with the vertebral column" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal tail structure" EXACT [] synonym: "extremities: tail dysmorphology" EXACT [] synonym: "tail abnormalities" BROAD [] synonym: "tail dysplasia" EXACT [] synonym: "tail structure abnormalities" EXACT [] xref: MGI:2173551 is_a: MP:0005371 ! limbs/digits/tail phenotype [Term] id: MP:0002112 name: extremities: no defect detected def: "OBSOLETE. no anomaly observed in examination of extremities" [MGI:csmith] xref: MGI:2173552 is_obsolete: true [Term] id: MP:0002113 name: abnormal skeleton development alt_id: MP:0000056 alt_id: MP:0001534 alt_id: MP:0001537 def: "any anomaly in the formation of bone tissue" [MGI:csmith] synonym: "abnormal bone development" EXACT [] synonym: "abnormal bone formation/ structure" EXACT [] synonym: "abnormal skeletogenesis" EXACT [] synonym: "skeletal: osteogenesis/developmental anomalies" EXACT [] xref: MGI:2173561 is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0002114 name: abnormal axial skeleton morphology def: "any structural anomaly of the articulated bones of the cranium and vertebral column" [ISBN:0-683-40008-8, MGI:csmith] synonym: "axial skeletal dysplasia" EXACT [] synonym: "skeletal: axial defects" BROAD [] xref: MGI:2173562 is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0002115 name: abnormal limb bone morphology def: "any structural anomaly of the limb or autopod bones" [MGI:csmith] synonym: "abnormal skeleton extremities morphology" EXACT [] synonym: "dysplastic skeletal extremities" EXACT [] synonym: "skeletal: extremities defects" EXACT [] xref: MGI:2173563 is_a: MP:0002109 ! abnormal limb morphology is_a: MP:0009250 ! abnormal appendicular skeleton morphology [Term] id: MP:0002116 name: abnormal craniofacial bone morphology alt_id: MP:0000072 def: "any structural anomaly of the cranial or facial bones" [MGI:csmith] synonym: "cranial/facial bone dysplasia" EXACT [] synonym: "craniofacial bone defects" BROAD [] synonym: "craniofacial bone dysplasia" EXACT [] synonym: "skeletal: craniofacial defects" EXACT [] xref: MGI:2173564 is_a: MP:0000428 ! abnormal craniofacial morphology is_a: MP:0002114 ! abnormal axial skeleton morphology [Term] id: MP:0002117 name: skeletal: no defect detected def: "OBSOLETE. no anomaly observed in examination of bones and/or skeleton" [MGI:csmith] xref: MGI:2173565 is_obsolete: true [Term] id: MP:0002118 name: abnormal lipid homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues" [MGI:csmith] synonym: "metabolism: abnormal lipid homeostasis" EXACT [] xref: MGI:2173578 is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0002119 name: dipsosis def: "excessive desire to drink, or to drink unusual fluids" [ISBN:0-683-40008-8, MGI:csmith] synonym: "dipsesis" EXACT [] is_a: MP:0001423 ! abnormal liquid preference [Term] id: MP:0002121 name: other metabolic defect alt_id: MP:0002120 def: "OBSOLETE. altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry" [MGI:csmith] synonym: "metabolism: other metabolic defect" EXACT [] synonym: "metabolism: other metabolic defect measured by clinical chemistry" EXACT [] xref: MGI:2173580 xref: MGI:2173581 is_obsolete: true consider: MP:0005266 [Term] id: MP:0002122 name: metabolism: no defect detected def: "OBSOLETE. no anomaly observed in examination of metabolic function" [MGI:csmith] xref: MGI:2173582 is_obsolete: true [Term] id: MP:0002123 name: abnormal hematopoiesis alt_id: MP:0000236 alt_id: MP:0000241 alt_id: MP:0001600 alt_id: MP:0001604 alt_id: MP:0001605 alt_id: MP:0002402 def: "abnormal development of blood cells in the fetal and adult organism; in the fetus cells develop in the aorta, genital ridge and mesonephros region and later in the liver; in adults cells normally develop in the bone marrow and lymphatic tissues" [MGI:csmith] synonym: "abnormal blood development" EXACT [] synonym: "abnormal definitive hematopoiesis" EXACT [] synonym: "abnormal hematogenesis" EXACT [] synonym: "abnormal hematosis" EXACT [] synonym: "abnormal hemogenesis" EXACT [] synonym: "abnormal hemopoiesis" EXACT [] synonym: "abnormal sanguification" EXACT [] synonym: "blood development abnormalities" EXACT [] synonym: "deregulated hematopoiesis" EXACT [] synonym: "hematology: hematopoietic anomalies" EXACT [] synonym: "hematopoiesis abnormalities" EXACT [] xref: MGI:2173583 is_a: MP:0002429 ! abnormal blood cell morphology/development [Term] id: MP:0002126 name: hematology: no defect detected def: "OBSOLETE. no anomaly observed in examination of hematological development or function" [MGI:csmith] xref: MGI:2173586 is_obsolete: true [Term] id: MP:0002127 name: abnormal cardiovascular system morphology alt_id: MP:0000177 def: "any structural anomaly of the heart or vascular tissue" [MGI:csmith] synonym: "cardiovascular dysplasia" EXACT [] synonym: "cardiovascular system abnormalities" BROAD [] synonym: "cardiovascular system defects" BROAD [] synonym: "cardiovascular system dysplasia" EXACT [] synonym: "heart/cardiovascular system: dysmorphology" EXACT [] xref: MGI:2173587 is_a: MP:0005385 ! cardiovascular system phenotype [Term] id: MP:0002128 name: abnormal blood circulation alt_id: MP:0000308 alt_id: MP:0001632 def: "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [MGI:csmith] synonym: "abnormal circulation" BROAD [] synonym: "heart/cardiovascular system: blood circulatory defects" EXACT [] xref: MGI:2173588 is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0002131 name: heart/cardiovascular system: no defect detected def: "OBSOLETE. no anomaly observed in examination of heart or vascular tissue or in cardiovascular function" [MGI:csmith] xref: MGI:2173591 is_obsolete: true [Term] id: MP:0002132 name: abnormal respiratory system morphology alt_id: Fyler:4235 alt_id: MP:0001174 def: "any structural anomaly of pulmonary tissues" [MGI:csmith] subset: CvDC_Terms synonym: "pulmonary malformation" EXACT [] synonym: "respiratory system dysplasia" EXACT [] synonym: "respiratory system: dysmorphology" EXACT [] xref: MGI:2173592 is_a: MP:0005388 ! respiratory system phenotype [Term] id: MP:0002133 name: abnormal respiratory system physiology def: "any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [MGI:csmith] synonym: "respiratory system dysfunction" EXACT [] synonym: "respiratory system physiology abnormalities" EXACT [] synonym: "respiratory system: respiratory distress/failure/functional anomalies" EXACT [] xref: MGI:2173593 is_a: MP:0005388 ! respiratory system phenotype [Term] id: MP:0002134 name: respiratory system: no defect detected def: "OBSOLETE. no anomaly observed in examination of lung and other respiratory tissues" [MGI:csmith] xref: MGI:2173594 is_obsolete: true [Term] id: MP:0002135 name: abnormal kidney morphology alt_id: Fyler:4512 alt_id: MP:0000518 alt_id: MP:0003650 def: "any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal renal morphology" EXACT [] synonym: "kidney dysplasia" EXACT [] synonym: "kidney/renal system: dysmorphology" EXACT [] synonym: "renal dysplasia" EXACT [] synonym: "renal malformation" EXACT [] xref: MGI:2173595 is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0002136 name: abnormal kidney physiology def: "any functional anomaly and/or activity of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [MGI:anna] synonym: "abnormal kidney function" EXACT [] synonym: "abnormal renal physiology" EXACT [] synonym: "decreased renal function" NARROW [] synonym: "impaired renal function" NARROW [] synonym: "kidney malfunction" EXACT [] synonym: "kidney/renal system: functional anomalies" EXACT [] synonym: "loss of renal function" NARROW [] synonym: "reduced renal function" NARROW [] synonym: "renal dysfunction" EXACT [] synonym: "renal functional abnormality" EXACT [] xref: MGI:2173596 is_a: MP:0005502 ! abnormal renal/urinary system physiology [Term] id: MP:0002137 name: kidney/renal system: no defect detected def: "OBSOLETE. no anomaly observed in examination of kidney and other renal tissues" [MGI:csmith] xref: MGI:2173597 is_obsolete: true [Term] id: MP:0002138 name: abnormal hepatobiliary system morphology alt_id: MP:0002172 def: "any structural anomaly of any of the tissues of the liver or biliary system" [MGI:csmith] synonym: "abnormal liver/biliary system morphology" EXACT [] synonym: "hepatic dysplasia" NARROW [] synonym: "hepatic system abnormalities" BROAD [] synonym: "hepatic system defects" BROAD [] synonym: "liver/biliary system dysplasia" EXACT [] synonym: "liver/hepatic system: dysmorphology" EXACT [] xref: MGI:2173598 is_a: MP:0005370 ! liver/biliary system phenotype [Term] id: MP:0002139 name: abnormal hepatobiliary system physiology alt_id: MP:0002173 def: "any functional anomaly of the tissues of the liver or biliary system" [MGI:csmith] synonym: "abnormal hepatic system physiology" NARROW [] synonym: "abnormal liver/biliary system physiology" EXACT [] synonym: "hepatic system physiology abnormalities" NARROW [] synonym: "liver/hepatic system: functional anomalies" EXACT [] xref: MGI:2173599 is_a: MP:0005370 ! liver/biliary system phenotype [Term] id: MP:0002140 name: liver/hepatic system: no defect detected def: "OBSOLETE. no anomaly observed in examination of liver or other hepatic tissues" [MGI:csmith] xref: MGI:2173600 is_obsolete: true [Term] id: MP:0002143 name: digestive system: no defect detected def: "OBSOLETE. no anomaly obsesrved in the function of or in any region of the digestive system" [MGI:csmith] xref: MGI:2173603 is_obsolete: true [Term] id: MP:0002144 name: abnormal B cell differentiation alt_id: MP:0001801 alt_id: MP:0001803 alt_id: MP:0002438 def: "atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors" [MGI:csmith] synonym: "abnormal B cell development" EXACT [] synonym: "abnormal B cell maturation" EXACT [] synonym: "abnormal B lymphocyte development" EXACT [] synonym: "abnormal B lymphocyte maturation" EXACT [] synonym: "abnormal B-cell development" EXACT [] synonym: "abnormal B-cell maturation" EXACT [] synonym: "abnormal lymphoid development/ B lymphocyte defects" BROAD [] synonym: "B cell abnormalities" BROAD [] synonym: "B lymphocyte abnormalities" BROAD [] synonym: "B-cell abnormalities" BROAD [] synonym: "immune system: lymphoid development/ B lymphocyte defects" BROAD [] xref: MGI:2173604 is_a: MP:0002401 ! abnormal lymphopoiesis is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002145 name: abnormal T cell differentiation alt_id: MP:0001821 alt_id: MP:0001822 alt_id: MP:0002431 alt_id: MP:0002489 def: "atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors" [MGI:csmith] synonym: "abnormal lymphoid development/ T lymphocyte defects" BROAD [] synonym: "abnormal T cell development" EXACT [] synonym: "abnormal T cell maturation" EXACT [] synonym: "abnormal T cell morphology/development" EXACT [] synonym: "abnormal T lymphocyte development" EXACT [] synonym: "abnormal T-cell development" EXACT [] synonym: "abnormal T-cell maturation" EXACT [] synonym: "abnormal thymocyte development" NARROW [] synonym: "immune system: lymphoid development/ T lymphocyte defects" BROAD [] xref: MGI:2173605 is_a: MP:0002401 ! abnormal lymphopoiesis is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0002146 name: immune system: other dysmorphology def: "OBSOLETE. abnormal development of lymphocytes or lymphatic tissue (other than B or T lymphocytes) resulting in morphological abnormality" [MGI:csmith] xref: MGI:2173606 is_obsolete: true [Term] id: MP:0002147 name: immune system: immunodeficiency def: "OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease" [MGI:csmith] xref: MGI:2173607 is_obsolete: true [Term] id: MP:0002148 name: abnormal hypersensitivity reaction def: "immune response that results in tissue injury" [MGI:csmith] synonym: "immune system: hypersensitivity" EXACT [] synonym: "immunologically mediated tissue injury" EXACT [] xref: MGI:2173608 is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002149 name: immune system: other functional anomaly def: "OBSOLETE. altered immune response not due to anatomical defect, immunodeficiency or hypersensitivity" [MGI:csmith] xref: MGI:2173609 is_obsolete: true [Term] id: MP:0002150 name: immune system: no defect detected def: "OBSOLETE. no anomaly observed in examination of immune system tissues or function" [MGI:csmith] xref: MGI:2173610 is_obsolete: true [Term] id: MP:0002151 name: abnormal neural tube morphology/development alt_id: Fyler:4339 alt_id: MP:0000922 def: "any structural anomaly of or development of the embryonic neural tube" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal neural tube morphology" NARROW [] synonym: "central nervous system: neural tube defects" BROAD [] synonym: "neural tube defects" BROAD [] synonym: "neural tube dysplasia" NARROW [] xref: GO:0007420 xref: MGI:2173611 is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0002152 name: abnormal brain morphology alt_id: MP:0000770 alt_id: MP:0000775 def: "any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [http://cancerweb.ncl.ac.uk, MGI:csmith] synonym: "abnormal brain structure" EXACT [] synonym: "brain abnormalities" BROAD [] synonym: "brain dysplasia" EXACT [] synonym: "brain structure abnormalities" EXACT [] synonym: "central nervous system: brain dysmorphology" EXACT [] xref: MGI:2173612 is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002156 name: central nervous system: no defect detected def: "OBSOLETE. no anomaly observed in examination of central nervous system tissues or function" [MGI:csmith] xref: MGI:2173616 is_obsolete: true [Term] id: MP:0002159 name: peripheral nervous system: no defect detected def: "OBSOLETE. no anomaly observed in examination of peripheral nervous system tissues or function" [MGI:csmith] xref: MGI:2173619 is_obsolete: true [Term] id: MP:0002160 name: abnormal reproductive system morphology alt_id: MP:0001114 alt_id: MP:0001115 def: "structural or developmental anomaly of any of the tissues involved in the reproductive system" [MGI:csmith] synonym: "abnormal reproductive anatomy" EXACT [] synonym: "abnormal reproductive system" BROAD [] synonym: "reproductive system abnormalities" EXACT [] synonym: "reproductive system defects" EXACT [] synonym: "reproductive system dysplasia" EXACT [] synonym: "reproductive system: dysmorphology" EXACT [] xref: MGI:2173620 is_a: MP:0005389 ! reproductive system phenotype [Term] id: MP:0002161 name: abnormal fertility/fecundity alt_id: MP:0001920 def: "anomaly in the reproductive capability of an organism or population to produce live offspring" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal fecundity" EXACT [] synonym: "reproductive system: fertility/fecundity anomalies" EXACT [] xref: MGI:2173621 is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0002162 name: reproductive system: no defect detected def: "OBSOLETE. no anomaly observed in examination of reproductive system tissues or function" [MGI:csmith] xref: MGI:2173622 is_obsolete: true [Term] id: MP:0002163 name: abnormal gland morphology alt_id: MP:0000594 def: "any structural anomaly of an organ that functions as a secretory or excretory organ" [MGI:csmith] synonym: "abnormal glands morphology" EXACT [] synonym: "gland abnormalities" BROAD [] synonym: "glands: dysmorphology" EXACT [] synonym: "glandular dysplasia" EXACT [] xref: MGI:2173623 is_a: MP:0005379 ! endocrine/exocrine gland phenotype [Term] id: MP:0002164 name: abnormal gland physiology alt_id: MP:0001733 alt_id: MP:0001738 alt_id: MP:0002692 def: "any functional anomaly of an organ that functions as a secretory or excretory organ" [MGI:csmith] synonym: "abnormal endocrine gland function" NARROW [] synonym: "abnormal endocrine system physiology" NARROW [] synonym: "abnormal gland function" EXACT [] synonym: "endocrine system physiology abnormalities" NARROW [] synonym: "gland function abnormalities" EXACT [] synonym: "glands: functional anomalies" EXACT [] xref: MGI:2173624 is_a: MP:0005379 ! endocrine/exocrine gland phenotype [Term] id: MP:0002165 name: glands: no defect detected def: "OBSOLETE. no anomaly observed in examination of endocrine system tissues or function" [MGI:csmith] xref: MGI:2173625 is_obsolete: true [Term] id: MP:0002166 name: altered tumor susceptibility def: "greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls" [MGI:csmith] synonym: "altered tumor resistance" EXACT [] synonym: "tumorigenesis: altered tumor susceptibility/resistance" EXACT [] xref: MGI:2173626 is_a: MP:0002006 ! tumorigenesis [Term] id: MP:0002167 name: unaffected tumor susceptibility/resistance def: "OBSOLETE. average number of tumors in an organism compared to controls, usually referring to a specific tumor type" [MGI:csmith] synonym: "tumorigenesis: no altered tumor susceptibility/resistance" EXACT [] xref: MGI:2173627 is_obsolete: true [Term] id: MP:0002168 name: other aberrant phenotype def: "anomaly or dysmorphology not attributable to any other category" [MGI:csmith] xref: MGI:2173628 is_a: MP:0005395 ! other phenotype [Term] id: MP:0002169 name: no abnormal phenotype detected alt_id: MP:0005396 def: "normal, viable and fertile appearance and behavior; reported phenotype is indistinguishable from controls" [MGI:csmith] synonym: "fertile" RELATED [] synonym: "no phenotype: no defect detected" EXACT [] synonym: "normal" BROAD [] synonym: "viability" RELATED [] synonym: "viable" RELATED [] synonym: "wild type" EXACT [] synonym: "wild-type" EXACT [] xref: MGI:2173629 is_a: MP:0002873 ! normal phenotype [Term] id: MP:0002174 name: abnormal gastrulation movements def: "failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers" [J:52418, MGI:csmith] xref: GO:0007669 is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0002175 name: decreased brain weight def: "lower than average weight of the brain" [MGI:csmith] synonym: "low brain weight" EXACT [] synonym: "reduced brain weight" EXACT [] is_a: MP:0000774 ! decreased brain size [Term] id: MP:0002176 name: increased brain weight def: "greater than average weight of the brain" [MGI:csmith] synonym: "high brain weight" EXACT [] is_a: MP:0005238 ! increased brain size [Term] id: MP:0002177 name: abnormal outer ear morphology def: "any structural anomaly of any components of the auricles or external acoustic meatus" [ISBN:0-683-40008-8, MGI:csmith] subset: Sanger_Terms synonym: "abnormal pinna morphology" EXACT [] synonym: "dysplastic pinna" EXACT [] synonym: "outer ear dysplasia" EXACT [] is_a: MP:0000432 ! abnormal head morphology is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0002180 name: obsolete alt_id: MP:0002178 alt_id: MP:0002179 def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002181 name: abnormal brain cell morphology def: "OBSOLETE. any structural anomaly of any or all brain cell types" [MGI:csmith] synonym: "abnormal brain cells" EXACT [] synonym: "brain cell abnormalities" EXACT [] is_obsolete: true consider: MP:0004101 [Term] id: MP:0002182 name: abnormal astrocyte morphology def: "any structural anomaly of one of the large neuroglia cells of nervous tissue" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal astrocytes morphology" EXACT [] synonym: "abnormal astroglia morphology" EXACT [] synonym: "abnormal astroglial cell morphology" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology [Term] id: MP:0002183 name: gliosis def: "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0003634 ! abnormal glial cell morphology [Term] id: MP:0002184 name: abnormal innervation def: "the malformation, misprojection, abnormal fasicluation or abnormal refinement of the connection, of nerve fibers to a target" [MGI:csmith] synonym: "abnormal axonal projection" EXACT [] synonym: "abnormal neuronal projection" EXACT [] synonym: "innervation abnormalities" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002185 name: ectopia alt_id: MP:0002186 def: "congenital positional anomaly or displacement of any part of the body or organ" [ISBN:0-683-40008-8] synonym: "heterotopia" EXACT [] is_a: MP:0002168 ! other aberrant phenotype [Term] id: MP:0002187 name: abnormal fibula morphology def: "any structural anomaly of the lateral and smaller bone of the lower limb" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "fibula dysplasia" EXACT [] is_a: MP:0003857 ! abnormal hindlimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0002188 name: small heart def: "reduced size of the heart relative to average" [MGI:csmith] synonym: "decreased heart size" EXACT [] synonym: "reduced heart size" EXACT [] is_a: MP:0005406 ! abnormal heart size [Term] id: MP:0002189 name: abnormal myocardial trabeculae morphology def: "any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal myocardium trabecular layer morphology" EXACT [] synonym: "abnormal trabeculae morphology" BROAD [] is_a: MP:0005329 ! abnormal myocardium layer morphology is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology [Term] id: MP:0002190 name: disorganized myocardium def: "derangement of the pattern cardiac muscle layers" [ISBN:0-683-40008-8] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0002191 name: abnormal artery morphology def: "any structural anomaly of the blood vessels that carry blood away from the heart" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal arteries morpholgy" EXACT [] synonym: "arterial dysplasia" EXACT [] synonym: "artery dysplasia" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0002192 name: hydrops fetalis def: "an abnormal accumulation of serous fluid in fetal tissues" [ISBN:0-683-40008-8, MGI:csmith] subset: Sanger_Terms synonym: "fetal edema" EXACT [] is_a: MP:0001785 ! edema [Term] id: MP:0002193 name: minimal clonic seizures def: "seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension" [MGI:csmith, MGI:wf] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0002194 name: maximal tonic hindlimb extension seizures def: "seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees)" [MGI:csmith, MGI:wf] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0002195 name: psychomotor seizures def: "low frequency, tetanic stimulation used to evoke partial limbic seizures, with currents ranging from 8 mA to 20 mA, depending on the strain and gender; manifesting as rhythmic face movements and extensive forelimb clonus (e.g. shadow-boxing forelimb movements), dorsal flexion of the neck, rearing and falling, and/or transient wobbliness/ataxia; seizure lasts only 10-15 seconds and when antiepileptic drugs are present may last only a few seconds" [MGI:csmith, MGI:wf] synonym: "partial limbic seizures" EXACT [] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0002196 name: absent corpus callosum alt_id: Fyler:4321 def: "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms subset: Sanger_Terms synonym: "absence of corpus callosum" EXACT [] synonym: "acallosal" EXACT [] synonym: "corpus callosum absent" EXACT [] is_a: MP:0000780 ! abnormal corpus callosum morphology [Term] id: MP:0002199 name: abnormal brain commissure morphology def: "any structural anomaly of any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal commissure" BROAD [] is_a: MP:0000778 ! abnormal nervous system tract morphology is_a: MP:0008026 ! abnormal brain white matter morphology [Term] id: MP:0002200 name: abnormal brain ventricle/choroid plexus morphology def: "any structural anomaly of the brain ventricles or their associated choroid plexuses" [ISBN:0-683-40008-8] synonym: "abnormal brain ventricle/choroid plexus" EXACT [] synonym: "abnormal choroid/ventricle" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0002201 name: abnormal neurotransmitter receptor physiology def: "OBSOLETE. aberrant function of cell surface receptors that bind signaling molecules released by neurons and convert these signals into intracellular changes influencing the behavior of cells" [MGI:cwg] synonym: "neurotransmitter receptor defects" EXACT [] is_obsolete: true [Term] id: MP:0002204 name: abnormal neurotransmitter level def: "anomaly in the amount of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell" [GO:0007269, MGI:csmith] synonym: "neurotransmitter abnormalities" BROAD [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002205 name: neurotransmitter imbalance def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002206 name: abnormal CNS synaptic transmission def: "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MESH:G04.335.880.850] synonym: "abnormal CNS neurotransmission" EXACT [] synonym: "abnormal synaptic transmission" BROAD [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002207 name: abnormal long term potentiation alt_id: MP:0001472 alt_id: MP:0001896 alt_id: MP:0001897 alt_id: MP:0002154 def: "alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [ISBN:0838580343, MGI:csmith] synonym: "abnormal long-term potentiation" EXACT [] synonym: "abnormal LTP" EXACT [] synonym: "abnormal LTP: CA1 region" NARROW [] synonym: "abnormal LTP: CA3 region" NARROW [] synonym: "central nervous system: LTP anomalies" EXACT [] synonym: "long term potentiation abnormalities" EXACT [] xref: MGI:2173614 is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002208 name: abnormal germ cell morphology def: "any structural anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [ISBN:0-683-40008-8] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0002209 name: decreased germ cell number def: "reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [ISBN:0-683-40008-8, MGI:pvb] synonym: "decreased number of germ cells" EXACT [] synonym: "germ cell depletion" EXACT [] synonym: "germ cell hypoplasia" EXACT [] synonym: "reduced germ cell number" EXACT [] synonym: "reduced number of germ cells" EXACT [] is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0002210 name: abnormal sex determination alt_id: MP:0001936 def: "anomaly of primary or secondary sexual development or characteristics" [MGI:cwg] synonym: "abnormal sexual differentiation" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0002211 name: abnormal primary sex determination def: "aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex" [MGI:csmith, MGI:llw2] synonym: "abnormal gonad development" EXACT [] is_a: MP:0002210 ! abnormal sex determination [Term] id: MP:0002212 name: abnormal secondary sex determination def: "gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous" [MGI:llw2] is_a: MP:0002210 ! abnormal sex determination [Term] id: MP:0002213 name: true hermaphroditism def: "having both ovarian and testicular tissue present" [ISBN:0-683-40008-8, MGI:llw2] is_a: MP:0002211 ! abnormal primary sex determination [Term] id: MP:0002214 name: streak gonad def: "impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue" [ISBN:0-683-40008-8, MGI:llw2] synonym: "gonadal streak" EXACT [] is_a: MP:0002211 ! abnormal primary sex determination is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0002215 name: testicular feminization def: "OBSOLETE. an XY animal displaying female sex characteristics, usually due to an X-linked mutation" [ISBN:0-683-40008-8, MGI:csmith] synonym: "androgen insensitivity" EXACT [] is_obsolete: true [Term] id: MP:0002216 name: abnormal seminiferous tubule morphology def: "any structural anomaly of the tubules in the testes where spermatogenesis occurs" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal seminiferous tubules morphology" EXACT [] synonym: "seminiferous tubule dysplasia" EXACT [] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0002217 name: small lymph nodes def: "lymph nodes of decreased size" [MGI:cwg] synonym: "decreased lymph node size" EXACT [] synonym: "reduced lymph node size" EXACT [] is_a: MP:0000701 ! abnormal lymph node size [Term] id: MP:0002218 name: increased lymph node number def: "greater than the normal number of lymph nodes" [MGI:cwg] is_a: MP:0000700 ! abnormal lymph node number [Term] id: MP:0002219 name: decreased lymph node number def: "fewer than the normal number of lymph nodes" [MGI:cwg] synonym: "reduced lymph node number" EXACT [] is_a: MP:0000700 ! abnormal lymph node number [Term] id: MP:0002220 name: large lymphoid organs def: "increased size of lymphatic tissues" [MGI:cwg] synonym: "increased lymphoid organs size" EXACT [] is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0002221 name: abnormal lymph organ size def: "change in the normal size of lymphatic tissues" [MGI:cwg] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002222 name: abnormal lymph organ cellularity def: "OBSOLETE. change in the normal number of cells within a lymph organ" [MGI:cwg] is_obsolete: true [Term] id: MP:0002223 name: lymphoid hypoplasia def: "underdevelopment or reduced size, usually due to a reduced cell number, in lymphatic tissue" [MGI:cwg] synonym: "decreased lymphoid tissue cellularity" RELATED [] synonym: "lymph organ hypoplasia" EXACT [] is_a: MP:0000687 ! small lymphoid organs is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002224 name: abnormal spleen size def: "deviation from the normal spleen size" [MGI:cwg] synonym: "abnormal splenic size" RELATED [] is_a: MP:0000689 ! abnormal spleen morphology is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0002225 name: abnormal spleen cellularity def: "OBSOLETE. anomaly in the cellular makeup of the spleen" [MGI:cwg] synonym: "abnormal splenic cellularity" EXACT [] synonym: "spleen cellularity abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0002227 name: abnormal spleen capsule morphology def: "any structural anomaly of the connective tissue that surrounds the spleen" [MGI:cwg] synonym: "abnormal splenic capsule morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002228 name: abnormal spleen trabecular vein morphology def: "any structural anomaly of one of the veins that feed the splenic vein" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002229 name: neurodegeneration def: "a retrogressive impairment of function or destruction of neural tissue" [ISBN:0-683-40008-8, MGI:csmith] synonym: "neuronal degeneration" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0002230 name: abnormal primitive streak formation def: "anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm" [ISBN:0-12-402035-6, MGI:csmith] is_a: MP:0002231 ! abnormal primitive streak morphology [Term] id: MP:0002231 name: abnormal primitive streak morphology def: "anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm" [ISBN:0-12-402035-6, MGI:csmith] synonym: "defective primitive streak" EXACT [] synonym: "primitive streak dysplasia" EXACT [] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0002232 name: sensory capabilities def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002233 name: abnormal nose morphology alt_id: Fyler:4870 def: "any structural anomaly of the organ that is specialized for smell and is part of the respiratory system" [MESH:A01.456.505.733, MGI:cwg] subset: CvDC_Terms synonym: "nasal malformation" EXACT [] synonym: "nose dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0002234 name: abnormal pharynx morphology def: "any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus" [MGI:cwg] synonym: "pharynx dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0002235 name: abnormal external nares morphology def: "any structural anomaly of the anterior opening to the nasal cavity" [MGI:cwg] synonym: "abnormal anterior nares morphology" EXACT [] synonym: "abnormal nostril morphology" EXACT [] synonym: "external nares dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002236 name: abnormal internal nares morphology def: "any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx" [MGI:cwg] synonym: "abnormal choanae morphology" EXACT [] synonym: "abnormal posterior nares morphology" EXACT [] synonym: "internal nares dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002237 name: abnormal nasal cavity morphology def: "any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [MESH:A04.531.449, MGI:cwg] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002238 name: abnormal nasal mucosa morphology alt_id: MP:0001112 def: "any structural anomaly of the mucous membrane that lines the nasal cavity" [MESH:A04.760.600, MGI:cwg] synonym: "abnormal nasal mucous membrane" EXACT [] synonym: "nasal mucosa dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0002277 ! abnormal respiratory mucosa morphology [Term] id: MP:0002239 name: abnormal nasal septum morphology def: "any structural anomaly of the structure that separates the two nasal cavities" [MESH:A02.165.407.600, MGI:cwg] synonym: "nasal septum dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002240 name: abnormal paranasal sinus morphology def: "any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity" [ISBN:0-683-40008-8] synonym: "abnormal paranasal sinuses morphology" EXACT [] synonym: "paranasal sinus dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0002241 name: abnormal laryngeal mucosa goblet cell morphology def: "any structural anomaly of the epithelial cells lining the larynx, which produce mucins" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal goblet cells of the laryngeal mucosa morphology" EXACT [] is_a: MP:0002261 ! abnormal laryngeal mucosa morphology [Term] id: MP:0002242 name: abnormal olfactory mucosa morphology def: "any structural anomaly of the portion of the nasal mucosa that contains the olfactory sensory endings" [MESH:A04.531.520.573, MGI:cwg] is_a: MP:0002238 ! abnormal nasal mucosa morphology [Term] id: MP:0002243 name: abnormal vomeronasal organ morphology def: "any structural anomaly of the specialized portion of the nasal septum that is composed of chemosensitive cells that respond to pheromones and lies anteriorly in the nasal cavity" [MESH:A04.531.591.940, MGI:cwg] comment: This organ is believed to function in sensing pheromones. While the structure has been thought to be absent from higher primate adults, some data suggests that a form may be present in adult humans. synonym: "vomeronasal organ dysplasia" EXACT [] is_a: MP:0000959 ! abnormal somatic sensory system morphology is_a: MP:0002239 ! abnormal nasal septum morphology [Term] id: MP:0002244 name: abnormal turbinate morphology def: "any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage" [ISBN:0-683-40008-8] synonym: "abnormal nasal concha morphology" EXACT [] synonym: "abnormal turbinates morphology" EXACT [] synonym: "turbinate dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0002245 name: abnormal ethmoid sinus morphology def: "any structural anomaly of the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses" [ISBN:0-683-40008-8] synonym: "abnormal ethmoid air cell morphology" EXACT [] synonym: "abnormal ethmoid cell morphology" EXACT [] synonym: "ethmoid sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002246 name: abnormal frontal sinus morphology def: "any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the lower part of the squama of the frontal bones" [ISBN:0-683-40008-8] synonym: "frontal sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002247 name: abnormal maxillary sinus morphology def: "any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the air space located within the maxilla" [ISBN:0-683-40008-8] synonym: "abnormal antrum of Highmore morphology" EXACT [] synonym: "abnormal genyantrum morphology" EXACT [] synonym: "abnormal maxillary antra morphology" EXACT [] synonym: "abnormal maxillary antrum morphology" EXACT [] synonym: "maxillary sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002248 name: abnormal sphenoid sinus morphology def: "any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the air space located within the sphenoid bone, and which communicates with the upper posterior nasal cavity or sphenoethmoidal recess" [ISBN:0-683-40008-8] synonym: "abnormal sphenoidal sinus morphology" EXACT [] synonym: "sphenoid sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002249 name: abnormal larynx morphology def: "any structural anomaly of the organ of voice production located between the pharynx and the trachea" [ISBN:0-683-40008-8] synonym: "larynx dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0002250 name: abnormal hypopharynx morphology def: "any structural anomaly in the portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and the esophagus" [MGI:cwg] synonym: "hypopharynx dysplasia" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002251 name: abnormal nasopharynx morphology def: "any structural anomaly of the section of the pharynx that lies above the soft palate" [MGI:cwg] synonym: "nasopharynx dysplasia" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002252 name: abnormal oropharynx morphology def: "any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis" [MGI:cwg] synonym: "oropharynx dysplasia" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002253 name: abnormal pharyngeal muscle morphology def: "any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus" [MESH:A02.633.567.800, MGI:cwg] synonym: "pharyngeal muscle dysplasia" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002254 name: reproductive system inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0002255 name: abnormal glottis morphology def: "any structural anomaly of the vocal apparatus of the larynx, which includes the vocal cords and the opening between them" [ISBN:0-397-51047-0, MGI:cwg] synonym: "glottis dysplasia" EXACT [] is_a: MP:0002249 ! abnormal larynx morphology [Term] id: MP:0002256 name: abnormal laryngeal cartilage morphology def: "any structural anomaly of the cartilaginous structures that support the larynx" [ISBN:0-397-51047-0, MGI:cwg] synonym: "laryngeal cartilage dysplasia" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0002249 ! abnormal larynx morphology [Term] id: MP:0002257 name: abnormal arytenoid cartilage morphology def: "any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal cartilago arytaenoidea morphology" EXACT [] synonym: "arytenoid cartilage dysplasia" EXACT [] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology [Term] id: MP:0002258 name: abnormal cricoid cartilage morphology def: "any structural anomaly of the most inferior of the laryngeal cartilages" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal cartilago cricoidea morphology" EXACT [] synonym: "cricoid cartilage dysplasia" EXACT [] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology [Term] id: MP:0002260 name: abnormal thyroid cartilage morphology def: "any structural anomaly of the largest of the laryngeal cartilages" [ISBN:0-397-51047-0, MGI:cwg] comment: The thyroid cartilage consists of two fused plates; their point of fusion is the "Adam's apple". synonym: "abnormal cartilago thyreoidea morphology" EXACT [] synonym: "thyroid cartilage dysplasia" EXACT [] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology [Term] id: MP:0002261 name: abnormal laryngeal mucosa morphology def: "any structural anomaly of the mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx" [ISBN:0-397-51047-0, MGI:cwg] synonym: "laryngeal mucosa dysplasia" EXACT [] is_a: MP:0002249 ! abnormal larynx morphology is_a: MP:0002277 ! abnormal respiratory mucosa morphology [Term] id: MP:0002262 name: abnormal nasal mucosa goblet cell morphology def: "any structural anomaly of the cells lining the nasal epithelium that produce and secrete mucins" [MGI:cwg] synonym: "abnormal goblet cells of the nasal mucosa morphology" EXACT [] synonym: "abnormal nasal mucous membrane" BROAD [] is_a: MP:0002238 ! abnormal nasal mucosa morphology [Term] id: MP:0002263 name: abnormal laryngeal muscle morphology def: "any structural anomaly of the muscles associated with the larynx" [ISBN:0-397-51047-0, MESH:A02.633.567.500, MGI:cwg] synonym: "abnormal laryngeal muscles morphology" EXACT [] synonym: "laryngeal muscle dysplasia" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0002249 ! abnormal larynx morphology [Term] id: MP:0002264 name: abnormal bronchus morphology def: "any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea" [ISBN:0-397-51047-0, MESH:A04.411.125, MGI:cwg] synonym: "abnormal bronchal morphology" EXACT [] synonym: "abnormal bronchi morphology" EXACT [] synonym: "bronchal dysplasia" EXACT [] synonym: "bronchi dysplasia" EXACT [] synonym: "bronchus dysplasia" EXACT [] is_a: MP:0004391 ! abnormal respiratory conducting tube morphology [Term] id: MP:0002265 name: abnormal left major bronchus morphology def: "any structural anomaly of the conducting airway leading to the left lobe of the lungs" [ISBN:0-397-51047-0, MGI:cwg] synonym: "left major bronchus dysplasia" EXACT [] is_a: MP:0002264 ! abnormal bronchus morphology [Term] id: MP:0002266 name: abnormal right major bronchus morphology def: "any structural anomaly of the conducting airway leading to the right lobe of the lungs" [ISBN:0-397-51047-0, MGI:cwg] synonym: "right major bronchus dysplasia" EXACT [] is_a: MP:0002264 ! abnormal bronchus morphology [Term] id: MP:0002267 name: abnormal bronchiole morphology def: "any structural anomaly of the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal bronchioles morphology" EXACT [] synonym: "bronchiolar dysplasia" EXACT [] is_a: MP:0004391 ! abnormal respiratory conducting tube morphology [Term] id: MP:0002268 name: abnormal terminal bronchiole morphology def: "any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal terminal bronchioles morphology" EXACT [] synonym: "terminal bronchiolar dysplasia" EXACT [] is_a: MP:0002267 ! abnormal bronchiole morphology [Term] id: MP:0002269 name: muscular atrophy def: "acquired diminution of muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8, MGI:csmith] synonym: "muscle atrophy" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0002270 name: abnormal pulmonary alveolus morphology def: "any structural anomaly of the small sac-like dilations of the distal airspace of the lung; they are present along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles; gas exchange of oxygen and carbon dioxide between alveolar air and blood in the pulmonary capillaries takes place across the cell walls" [MGI:csmith] synonym: "abnormal alveoli" BROAD [] synonym: "abnormal pulmonary alveoli morphology" EXACT [] synonym: "abnormal respiratory alveoli morphology" EXACT [] synonym: "abnormal respiratory alveolus morphology" EXACT [] is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0002271 name: abnormal pulmonary alveolar duct morphology def: "any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal alveolar ducts morphology" EXACT [] synonym: "abnormal respiratory alveolar duct morphology" EXACT [] synonym: "pulmonary alveolar duct dysplasia" EXACT [] is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0002272 name: abnormal nervous system electrophysiology alt_id: MP:0002677 def: "any functional anomaly of the nervous system as it relates to conduction of electrical impulses" [MGI:cwg] synonym: "abnormal electrophysiology" BROAD [] synonym: "electrophysiology abnormalities" BROAD [] synonym: "PNS electrophysiology abnormalities" NARROW [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0002273 name: abnormal pulmonary alveolus epithelial cell morphology def: "any structural anomaly of the cells lining the alveoli" [MGI:cwg] synonym: "abnormal alveolar epithelial cells morphology" EXACT [] synonym: "abnormal lung epithelial cells morphology" EXACT [] synonym: "abnormal respiratory alveolar epithelial cell morphology" EXACT [] synonym: "abnormal respiratory alveolus epithelial cell morphology" EXACT [] is_a: MP:0010898 ! abnormal pulmonary alveolus epithelium morphology is_a: MP:0010901 ! abnormal pulmonary alveolar parenchyma morphology [Term] id: MP:0002274 name: abnormal type I pneumocyte morphology def: "any structural anomaly of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange" [PMID:20054144] synonym: "abnormal AT1 morphology" EXACT [] synonym: "abnormal ATI morphology" EXACT [] synonym: "abnormal lung type 1 cells morphology" EXACT [] synonym: "abnormal membranous pneumocytes morphology" EXACT [] synonym: "abnormal Pulmonary alveolar type I cell morphology" EXACT [] synonym: "abnormal small alveolar cells morphology" EXACT [] synonym: "abnormal squamous alveolar cell morphology" EXACT [] synonym: "abnormal squamous alveolar lining cell morphology" EXACT [] synonym: "abnormal type 1 alveolar epithelial cells morphology" EXACT [] synonym: "abnormal Type 1 pneumocyte morphology" EXACT [] synonym: "abnormal type I alveolar epithelial cells morphology" EXACT [] synonym: "abnormal type I cells morphology" EXACT [] synonym: "abnormal type I pneumocytes morphology" EXACT [] synonym: "abnormal type I pneumonocytes morphology" EXACT [] xref: CL:0002062 xref: FMA:62500 is_a: MP:0002273 ! abnormal pulmonary alveolus epithelial cell morphology [Term] id: MP:0002275 name: abnormal type II pneumocyte morphology def: "any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna, PMID:8540632] synonym: "abnormal AT2 morphology" EXACT [] synonym: "abnormal ATII morphology" EXACT [] synonym: "abnormal Cuboidal type II cell morphology" EXACT [] synonym: "abnormal granular pneumocytes morphology" EXACT [] synonym: "abnormal Great alveolar cells morphology" EXACT [] synonym: "abnormal Lung type 2 cells morphology" EXACT [] synonym: "abnormal Lung type II cells morphology" EXACT [] synonym: "abnormal TII morphology" EXACT [] synonym: "abnormal type 2 alveolar epithelial cells morphology" EXACT [] synonym: "abnormal type 2 alveolocytes morphology" EXACT [] synonym: "abnormal type 2 pneumocyte morphology" EXACT [] synonym: "abnormal type II alveolar epithelial cells morphology" EXACT [] synonym: "abnormal type II alveolocytes morphology" EXACT [] synonym: "abnormal type II cells morphology" EXACT [] synonym: "abnormal type II pneumocytes morphology" EXACT [] synonym: "abnormal type II pneumonocytes morphology" EXACT [] xref: CL:0002063 xref: FMA:62501 is_a: MP:0002273 ! abnormal pulmonary alveolus epithelial cell morphology [Term] id: MP:0002276 name: abnormal lung interstitium morphology def: "any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces" [ISBN:0-683-40008-8, MGI:anna, PMID:14635660] synonym: "abnormal pulmonary interstitium morphology" EXACT [] synonym: "lung interstitium dysplasia" EXACT [] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0002277 name: abnormal respiratory mucosa morphology def: "any structural anomaly of the mucous membrane lining the respiratory tract" [MESH:A04.760, MGI:cwg] synonym: "abnormal respiratory mucosal morphology" EXACT [] synonym: "respiratory mucosal dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology is_a: MP:0010942 ! abnormal respiratory epithelium morphology [Term] id: MP:0002278 name: abnormal respiratory muscle morphology def: "OBSOLETE. structural anomaly of any of the muscles involved in breathing" [MGI:cwg] is_obsolete: true [Term] id: MP:0002279 name: abnormal diaphragm morphology alt_id: MP:0000760 def: "any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [ISBN:0-683-40008-8, MGI:cwg] synonym: "diaphragm muscle dysplasia" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0002280 name: abnormal intercostal muscle morphology def: "any structural anomaly of the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib" [MESH:A02.633.567.900.500, MGI:csmith] synonym: "intercostal muscle dysplasia" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0002281 name: abnormal respiratory mucosa goblet cell morphology def: "any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins" [MGI:cwg] is_a: MP:0002277 ! abnormal respiratory mucosa morphology [Term] id: MP:0002282 name: abnormal trachea morphology def: "any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi" [MESH:A04.889, MGI:cwg] synonym: "trachea dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0002283 name: hyaline cartilage abnormalities def: "OBSOLETE." [MGI:csmith] is_obsolete: true replaced_by: MP:0006429 [Term] id: MP:0002284 name: abnormal tracheal smooth muscle morphology def: "any structural anomaly of the smooth muscle lining the trachea" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0002282 ! abnormal trachea morphology [Term] id: MP:0002285 name: abnormal tracheal ciliated epithelium morphology def: "any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0002282 ! abnormal trachea morphology is_a: MP:0010942 ! abnormal respiratory epithelium morphology [Term] id: MP:0002286 name: cryptorchism alt_id: Fyler:4493 def: "failure of one or both of the testes to descend into the scrotum around the time of birth" [MGI:csmith] subset: CvDC_Terms synonym: "abdominal testes" EXACT [] synonym: "absence of scrotal testes" EXACT [] synonym: "cryptorchidism" EXACT [] synonym: "undescended testes" EXACT [] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0002287 name: reproductive system: fertility/fecundity characteristics def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002288 name: litter size def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002291 name: fecundity characteristics def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002292 name: abnormal gestational length def: "anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring" [MGI:csmith] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0002293 name: long gestation period def: "increase in the average duration of a pregnancy" [MGI:csmith] is_a: MP:0002292 ! abnormal gestational length [Term] id: MP:0002294 name: short gestation period def: "decrease in the average duration of a pregnancy" [MGI:csmith] is_a: MP:0002292 ! abnormal gestational length [Term] id: MP:0002295 name: abnormal pulmonary circulation alt_id: MP:0001941 def: "any anomaly in the circulation of blood through the lungs" [MESH:G09.330.582.163.770, MGI:cwg] synonym: "abnormal respiratory circulation" EXACT [] synonym: "pulmonary circulation abnormalities" EXACT [] synonym: "respiratory circulation abnormalities" EXACT [] is_a: MP:0002128 ! abnormal blood circulation is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0002296 name: aspiration def: "inspiration into the airways of fluid or any foreign material" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002297 name: abnormal forced expiratory flow rates def: "anomaly in the rates of airflow during forced vital capacity determination" [MESH:E01.370.386.700.660.225, MGI:cwg] comment: Do not confuse with forced expiratory volume, a test of pulmonary ventilation. subset: Europhenome_Terms is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0002298 name: abnormal maximal expiratory flow rate def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002299 name: abnormal maximal expiratory flow-volume curve def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002300 name: abnormal maximal midexpiratory flow rate def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002301 name: abnormal peak expiratory flow rate def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002302 name: abnormal forced expiratory volume def: "OBSOLETE. anomaly in the maximum amount of air that can be expelled in a given number of seconds during a forced vital capacity determination" [MGI:cwg] is_obsolete: true [Term] id: MP:0002303 name: abnormal maximal voluntary ventilation def: "OBSOLETE. anomaly in the maximum amount of air that can be breathed in and blown out over a specified interval" [MGI:cwg] is_obsolete: true [Term] id: MP:0002304 name: abnormal total lung capacity def: "anomaly in the volume of air contained in the lungs at the end of maximal inspiration" [MESH:G09.772.765.850] is_a: MP:0001942 ! abnormal lung volume is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002305 name: abnormal closing volume def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002306 name: abnormal functional residual capacity def: "anomaly in the volume of air remaining in the lungs at the end of a normal expiration" [MESH:G09.772.765.850.390, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002307 name: abnormal expiratory reserve volume def: "OBSOLETE. anomaly in the amount of the extra volume of air that can be expired with maximum effort beyond the level reached at the end of a normal expiration" [MGI:cwg] is_obsolete: true [Term] id: MP:0002308 name: abnormal residual volume def: "anomaly in the volume of air remaining in the lungs at the end of maximal expiration" [MESH:G09.772.765.850.390.820, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002309 name: abnormal vital capacity def: "anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration" [MESH:G09.772.765.850.970, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002310 name: decreased susceptibility to hepatic steatosis def: "less likely than normal to develop hepatic steatosis" [MGI:cwg] synonym: "decreased susceptibility to fatty liver development" EXACT [] synonym: "increased resistance to fatty liver development" EXACT [] synonym: "increased resistance to hepatic steatosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0002311 name: abnormal inspiratory capacity def: "anomaly in the maximal volume of air that can be inspired after the end of a normal expiration" [MESH:E01.370.386.700.485.750.900.350, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002312 name: abnormal inspiratory reserve volume def: "anomaly in the extra volume of air that can be inspired with maximal effort after reaching the end of a normal inspiration" [MESH:G09.772.765.850.970.500.375, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002313 name: abnormal tidal volume def: "anomaly in the volume of air inspired or expired during each normal respiratory cycle" [MESH:G09.772.765.850.970.500.700, MGI:cwg] subset: Europhenome_Terms is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002314 name: abnormal respiratory mechanics def: "anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration" [MESH:G09.772.770.755.700, MGI:cwg] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0002315 name: abnormal respiratory signs/symptoms def: "OBSOLETE. manifestations of diseases of the respiratory tract" [MESH:C23.888.852, MGI:cwg] is_obsolete: true [Term] id: MP:0002316 name: anoxia def: "absence or almost complete absence of oxygen from inspired gases, in blood or tissues" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0001574 ! abnormal oxygen level [Term] id: MP:0002318 name: hypercapnia def: "elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased partial CO2 level" EXACT [] is_a: MP:0003860 ! abnormal carbon dioxide level [Term] id: MP:0002319 name: hyperoxia def: "elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased partial O2 level" EXACT [] is_a: MP:0001574 ! abnormal oxygen level [Term] id: MP:0002320 name: hyperventilation def: "a state in which there is a increased amount of air entering the pulmonary alveoli (increased alveolar ventilation), which causes an decrease in arterial carbon dioxide level" [http://www.dorlands.com/] synonym: "increased alveolar ventilation" EXACT [] is_a: MP:0005575 ! increased pulmonary ventilation [Term] id: MP:0002321 name: hypoventilation def: "a state in which there is a reduced amount of air entering the pulmonary alveoli (decreased alveolar ventilation), which causes an increase in arterial carbon dioxide level" [http://www.dorlands.com/] synonym: "decreased alveolar ventilation" EXACT [] is_a: MP:0005576 ! decreased pulmonary ventilation [Term] id: MP:0002322 name: abnormal respiratory transport def: "anomaly in the process of gas exchange" [MESH:G06.535.166.775, MGI:cwg] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0002323 name: decreased susceptibility to hyperlipidemia def: "less likely than normal to develop abnormally high levels of circulating lipids" [MGI:cwg] synonym: "increased resistance to hyperlipidemia" EXACT [] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0002324 name: abnormal alveolocapillary membrane morphology def: "any structural anomaly of the membrane between the capillary blood and alveolar air, comprised of the alveolar epithelium and the capillary epithelium and their adherent basement membranes and epithelial cell cytoplasm" [MESH:A04.411.715.025, MGI:cwg] synonym: "abnormal alveolar-capillary barrier morphology" EXACT [] synonym: "abnormal alveolar-capillary membrane morphology" EXACT [] synonym: "abnormal alveolocapillary barrier morphology" EXACT [] synonym: "abnormal blood-air barrier morphology" EXACT [] synonym: "abnormal blood-gas barrier morphology" EXACT [] is_a: MP:0010900 ! abnormal pulmonary interalveolar septum morphology [Term] id: MP:0002325 name: abnormal pulmonary diffusing capacity def: "anomaly in the amount of gas taken up by pulmonary capillary blood per minute per unit of average oxygen pressure gradient between alveolar gas and pulmonary capillary blood" [MESH:G09.772.765.600, MGI:cwg] is_a: MP:0002336 ! abnormal pulmonary gas exchange [Term] id: MP:0002326 name: abnormal ventilation-perfusion ratio def: "anomaly in the ratio of alveolar ventilation to simultaneous capillary blood flow in the lung" [MESH:G09.772.765.920, MGI:cwg] comment: Changes in the ventilation-perfusion ratio alter the amount of O2 or CO2 in the blood. is_a: MP:0002295 ! abnormal pulmonary circulation is_a: MP:0002336 ! abnormal pulmonary gas exchange is_a: MP:0002338 ! abnormal pulmonary ventilation [Term] id: MP:0002327 name: abnormal respiratory function def: "anomaly in any measure of the processes involved in respiration" [MGI:cwg] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0002328 name: abnormal airway resistance def: "anomaly in the opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow" [MESH:E01.370.386.700.050, MGI:cwg] is_a: MP:0002314 ! abnormal respiratory mechanics is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0002329 name: abnormal blood gas level def: "anomaly in the amount of oxygen and carbon dioxide in the blood" [MESH:E01.450.150.100.100, MGI:cwg] is_a: MP:0003948 ! abnormal gas homeostasis is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0002330 name: abnormal bronchial provocation def: "anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions" [MESH:E01.370.386.700.125, MGI:cwg] is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0002332 name: abnormal exercise endurance def: "improved or impaired performance during controlled physical activity" [MGI:smb] synonym: "abnormal exercise fitness" EXACT [] synonym: "abnormal exercise tests" RELATED [] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0002333 name: abnormal lung compliance def: "anomaly in the ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure" [ISBN:070202788, MESH:E01.370.386.700.475] comment: This is a measure of the stiffness of the lung and indicative for diseases that cause fibrosis or edema in the lungs. synonym: "abnormal pulmonary compliance" EXACT [] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002334 name: abnormal airway responsiveness alt_id: MP:0002331 def: "anomalous response in bronchial provocation tests" [MGI:cwg] synonym: "abnormal methacholine challenge" NARROW [] is_a: MP:0002330 ! abnormal bronchial provocation [Term] id: MP:0002335 name: decreased airway responsiveness def: "less easily provoked into bronchoconstriction during bronchial provocation testing" [MGI:cwg] synonym: "airway hyporesponsiveness" EXACT [] synonym: "reduced airway responsiveness" EXACT [] is_a: MP:0002334 ! abnormal airway responsiveness [Term] id: MP:0002336 name: abnormal pulmonary gas exchange def: "anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood" [MESH:G09.772.770.755.760.602, MGI:cwg] is_a: MP:0002322 ! abnormal respiratory transport [Term] id: MP:0002337 name: abnormal whole-body plethysmography def: "anomaly in the measurements gathered in a chamber that encloses the body and in which changes in volume are recorded" [ISBN:0-683-40008-8, MESH:E01.370.386.700.615, MGI:cwg] subset: Europhenome_Terms is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002338 name: abnormal pulmonary ventilation def: "anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment" [ISBN:0-683-40008-8, MGI:csmith] comment: Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. synonym: "abnormal respiratory minute ventilation" RELATED [] synonym: "abnormal respiratory minute volume" EXACT [] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002339 name: abnormal lymph node morphology alt_id: MP:0000699 alt_id: MP:0005024 def: "any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched" [MESH:A10.549.400, MGI:csmith] synonym: "abnormal lymph gland morphology" EXACT [] synonym: "abnormal lymph node structure" EXACT [] synonym: "lymph node abnormalities" BROAD [] synonym: "lymph node dysplasia" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002340 name: abnormal axillary lymph node morphology def: "any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region" [ISBN:0-683-40008-8] synonym: "axillary lymph node abnormalities" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002341 name: abnormal lymph node capsule def: "OBSOLETE. anomaly in the connective tissue that surrounds a lymph node" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true [Term] id: MP:0002342 name: abnormal lymph node trabecula morphology def: "any structural anomaly of the membranous processes on the internal surface of the lymph node capsule, consisting of connective tissue and muscle fibers" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal lymph node trabeculae morphology" EXACT [] synonym: "lymph node trabecula dysplasia" EXACT [] synonym: "lymph node trabeculae dysplasia" EXACT [] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002343 name: abnormal lymph node cortex morphology def: "any structural anomaly in the outer area of the lymph node that has B and T cell domains" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002344 name: abnormal lymph node B cell domain morphology def: "any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers" [PMID:17067937] synonym: "abnormal lymph node B cell dependent cortex morphology" EXACT [] synonym: "abnormal lymph node B-cell domain morphology" EXACT [] synonym: "abnormal nodular lymph node cortex morphology" EXACT [] is_a: MP:0002343 ! abnormal lymph node cortex morphology [Term] id: MP:0002345 name: abnormal lymph node primary follicle morphology def: "any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex" [ISBN:0716749475] comment: Cells in the primary follicle consist of cohesive aggregates of small, normal-appearing lymphocytes. is_a: MP:0002344 ! abnormal lymph node B cell domain morphology [Term] id: MP:0002346 name: abnormal lymph node secondary follicle morphology def: "any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed" [ISBN:0716749475] is_a: MP:0002344 ! abnormal lymph node B cell domain morphology [Term] id: MP:0002347 name: abnormal lymph node T cell domain morphology def: "any structural anomaly of the paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells; T lymphocytes proliferate in the paracortex and enlarge it but do not produce structures analogous to germinal centers" [PMID:17067937] synonym: "abnormal lymph node deep cortex morphology" EXACT [] synonym: "abnormal lymph node T cell dependent paracortex morphology" EXACT [] synonym: "abnormal lymph node T-cell domain morphology" EXACT [] is_a: MP:0002343 ! abnormal lymph node cortex morphology [Term] id: MP:0002348 name: abnormal lymph node medulla morphology def: "any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal medullary sinus" NARROW [] synonym: "lymph node medulla dysplasia" EXACT [] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002349 name: abnormal afferent lymphatic vessel morphology def: "any structural anomaly in the lymphatic tubes entering the lymph node" [MGI:cwg] xref: MA:0000748 is_a: MP:0001879 ! abnormal lymphatic vessel morphology is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002350 name: abnormal efferent lymphatic vessel morphology def: "any structural anomaly in the lymphatic tube exiting the lymph node" [MGI:cwg] xref: MA:0000749 is_a: MP:0001879 ! abnormal lymphatic vessel morphology is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002351 name: abnormal cervical lymph node morphology def: "any structural anomaly of the lymph nodes found near the neck and shoulders" [MGI:cwg] synonym: "cervical lymph node dysplasia" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002352 name: abnormal popliteal lymph node morphology def: "any structural anomaly of the lymph nodes which drain the legs" [MGI:cwg] synonym: "popliteal lymph node dysplasia" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002353 name: abnormal inguinal lymph node morphology def: "any structural anomaly of the lymph nodes located in the groin area" [MGI:cwg] synonym: "inguinal lymph node dysplasia" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002354 name: abnormal spleen trabecular artery morphology def: "any structural anomaly of one of the branches of the splenic artery" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0000689 ! abnormal spleen morphology is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0002355 name: abnormal spleen venous sinus def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002356 name: abnormal spleen red pulp morphology def: "any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith] synonym: "abnormal splenic red pulp morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002357 name: abnormal spleen white pulp morphology def: "any structural anomaly of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith] comment: Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal sinus and marginal zone have been included as part of the white pulp. synonym: "abnormal splenic white pulp morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002358 name: abnormal spleen periarteriolar lymphoid sheath morphology def: "any structural anomaly of the area of the spleen in which T cells surround the central arteriole" [ISBN:0-397-51047-0, ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal PALS morphology" EXACT [] synonym: "abnormal periarteriolar sheath morphology" EXACT [] synonym: "abnormal splenic periarteriolar lymphoid sheath morphology" EXACT [] synonym: "abnormal T cell domain of the splenic white pulp morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002359 name: abnormal spleen germinal center morphology def: "any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "abnormal spleen follicle center morphology" EXACT [] synonym: "abnormal spleen follicle centre morphology" EXACT [] synonym: "abnormal spleen GC morphology" EXACT [] synonym: "abnormal splenic germinal center morphology" RELATED [] is_a: MP:0008472 ! abnormal spleen secondary B follicle morphology [Term] id: MP:0002360 name: abnormal spleen B cell corona morphology def: "any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes" [PMID:17495967] synonym: "abnormal B cell domain of the spleen" BROAD [] synonym: "abnormal follicle mantle morphology" EXACT [] synonym: "abnormal lymphocytic corona" BROAD [] synonym: "abnormal mantle zone" EXACT [] synonym: "abnormal spleen B-cell corona morphology" EXACT [] synonym: "abnormal splenic B cell corona morphology" EXACT [] is_a: MP:0008472 ! abnormal spleen secondary B follicle morphology [Term] id: MP:0002361 name: abnormal spleen central arteriole morphology def: "any structural anomaly of the blood vessel surrounded by the periarteriolar lymphoid sheath that connects the trabecular artery to the trabecular vein" [ISBN:0-8153-1691-7] synonym: "abnormal CA morphology" EXACT [] synonym: "abnormal follicular arteriole morphology" EXACT [] synonym: "abnormal splenic central arteriole morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002362 name: abnormal spleen marginal zone morphology def: "any structural anomaly of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens" [ISBN:0-683-40008-8] comment: Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal zone has been included as part of the white pulp. synonym: "abnormal splenic marginal zone morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002363 name: abnormal spleen marginal sinus morphology def: "any structural anomaly of the border region surrounding the spleen B cell follicles and the periarteriolar lymphoid sheath (PALS) that separates it from the marginal zone that mediates lymphocyte entry into the white pulp from the blood" [PMID:11485909] comment: Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal sinus (which may not exist in human) has been included as part of the white pulp. The perifollicular zone, which is present in human and not rodents, may be the functional equivalent of the marginal sinus in rodents. synonym: "abnormal splenic marginal sinus morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002364 name: abnormal thymus size def: "deviation from the normal size of the thymus" [MGI:cwg] is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0002365 name: abnormal thymus cellularity def: "OBSOLETE. anomaly in the cellular makeup of the thymus" [MGI:cwg] synonym: "abnormal thymic cellularity" EXACT [] is_obsolete: true [Term] id: MP:0002367 name: abnormal thymus lobule morphology def: "any structural anomaly of the basic structural unit of the thymus" [ISBN:0-397-51047-0, MGI:cwg] synonym: "thymus lobule dysplasia" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0002368 name: abnormal thymus capsule morphology def: "any structural anomaly of the fibrous connective tissue surrounding the thymus" [MGI:cwg] synonym: "thymus capsule dysplasia" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0002369 name: abnormal thymus subcapsular epithelium morphology def: "any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal subcapsular epithelium of the thymus morphology" EXACT [] is_a: MP:0009544 ! abnormal thymus epithelium morphology [Term] id: MP:0002370 name: abnormal thymus trabecula morphology def: "any structural anomaly of the thymic connective tissue which extends into the parenchyma" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal thymus trabeculae morphology" EXACT [] synonym: "thymus trabecula dysplasia" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0002371 name: abnormal thymus cortex morphology def: "any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes" [ISBN:0-683-40008-8] comment: The thymic cortex contains immature thymocytes, cortical epithelial cells, and scattered macrophages. synonym: "thymus cortex dysplasia" EXACT [] is_a: MP:0002367 ! abnormal thymus lobule morphology [Term] id: MP:0002373 name: abnormal macrophages in the thymus def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002374 name: abnormal thymus epithelial cells def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002375 name: abnormal thymus medulla morphology def: "any structural anomaly of the inner area of thymus lobules" [ISBN:0-8153-1691-7, MGI:cwg] comment: The thymic medulla contains mature thymocytes, medulla epithelial cells, macrophages and dendritic cells. synonym: "thymus medulla dysplasia" EXACT [] is_a: MP:0002367 ! abnormal thymus lobule morphology [Term] id: MP:0002376 name: abnormal dendritic cell physiology def: "any functional anomaly of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity" [J:85808, MESH:A11.066.270] synonym: "abnormal dendritic cell function" EXACT [] synonym: "abnormal interdigitating reticular cell physiology" EXACT [] is_a: MP:0001819 ! abnormal immune cell physiology is_a: MP:0002452 ! abnormal antigen presenting cell physiology [Term] id: MP:0002377 name: abnormal mucosa-associated lymphoid tissue morphology def: "any structural anomaly of the regional immune system associated with the mucosa" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "MALT abnormalities" BROAD [] synonym: "MALT dysplasia" EXACT [] synonym: "mucosa-associated lymphoid tissue abnormalities" BROAD [] synonym: "mucosa-associated lymphoid tissue dysplasia" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002378 name: abnormal gut-associated lymphoid tissue morphology def: "any structural anomaly of the regional immune system located in the gut" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "GALT abnormalities" BROAD [] synonym: "GALT dysplasia" EXACT [] synonym: "gut-associated lymphoid tissue abnormalities" BROAD [] synonym: "gut-associated lymphoid tissue dysplasia" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002379 name: abnormal oropharyngeal lymphoid tissue morphology def: "any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils" [MGI:cwg] synonym: "abnormal Waldeyer's ring morphology" EXACT [] synonym: "oropharyngeal lymphoid tissue dysplasia" EXACT [] is_a: MP:0002377 ! abnormal mucosa-associated lymphoid tissue morphology [Term] id: MP:0002380 name: abnormal palatine tonsil morphology def: "any structural anomaly of either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx" [MGI:cwg] synonym: "abnormal tonsil morphology" BROAD [] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002381 name: abnormal tonsil capsule def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002382 name: abnormal lymphatic nodules with germinal centers def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002383 name: abnormal tonsil crypts def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002384 name: abnormal nasopharyngeal tonsil morphology def: "any structural anomaly of the lymph tissue in the roof and posterior wall of the nasopharynx" [MGI:cwg] synonym: "abnormal adenoid morphology" EXACT [] synonym: "adenoid dysplasia" EXACT [] synonym: "nasopharyngeal tonsil dysplasia" EXACT [] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002385 name: abnormal lingual tonsillar tissue morphology def: "any structural anomaly of the lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue" [MGI:cwg] synonym: "lingual tonsillar tissue dysplasia" EXACT [] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002386 name: abnormal tubal tonsil morphology def: "any structural anomaly of the lymph tissue associated with the pharyngeal opening of the auditory tube" [MGI:cwg] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002387 name: abnormal prevalence of Peyer's patches def: "OBSOLETE. deviation from the normal distribution and/or number of Peyer's patches" [MGI:cwg] is_obsolete: true consider: MP:0008131 consider: MP:0008134 [Term] id: MP:0002388 name: abnormal Peyer's patch epithelium morphology def: "any structural anomaly of the specialized epithelium of the Peyer's patch" [ISBN:0-8153-1691-7, MGI:cwg] comment: Antigen normally enters the Peyer's patch via this specialized epithelium. is_a: MP:0000488 ! abnormal intestinal epithelium morphology is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0002389 name: abnormal Peyer's patch follicle morphology def: "any structural anomaly of the area of the Peyer's patch normally occupied by B cells" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0002390 name: abnormal Peyer's patch dome def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002391 name: abnormal Peyer's patch germinal center morphology def: "any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells" [ISBN:0-8153-1691-7, MGI:cwg] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). is_a: MP:0002389 ! abnormal Peyer's patch follicle morphology [Term] id: MP:0002392 name: abnormal Peyer's patch T cell area morphology def: "any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002389 ! abnormal Peyer's patch follicle morphology [Term] id: MP:0002393 name: abnormal bronchus-associated lymphoid tissue morphology def: "any structural anomaly of the regional immune system located near the bronchus" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal bronchial-associated lymphoid tissue morphology" EXACT [] synonym: "BALT abnormalities" BROAD [] synonym: "BALT dysplasia" EXACT [] synonym: "bronchial-associated lymphoid tissue abnormalities" BROAD [] synonym: "bronchus-associated lymphoid tissue abnormalities" BROAD [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002394 name: absent thymocyte subset def: "OBSOLETE. lack of a particular group of T cells" [MGI:cwg] synonym: "absence of thymocyte subset" EXACT [] is_obsolete: true [Term] id: MP:0002395 name: hemolymphoid system abnormalities def: "OBSOLETE. anomalies of the blood and blood-forming tissues or of the immune system and immune cell forming tissues" [MGI:cwg] synonym: "hematolymphoid system abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0002396 name: abnormal hematopoietic system morphology/development def: "any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells" [MGI:cwg] synonym: "abnormal blood morphology" EXACT [] synonym: "abnormal hemopoietic system morphology/development" EXACT [] synonym: "hematopoietic organ abnormalities" BROAD [] synonym: "hematopoietic system dysplasia" RELATED [] is_a: MP:0005397 ! hematopoietic system phenotype [Term] id: MP:0002397 name: abnormal bone marrow morphology def: "any structural anomaly of the soft tissue that fills the cavities of bones" [MGI:cwg] comment: Note that this term refers to the contents of the bone marrow cavity, not to the structure of the cavity itself. synonym: "bone marrow abnormalities" BROAD [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0002398 name: abnormal bone marrow cell morphology/development def: "any structural anomaly of the cells found in the bone marrow" [MGI:cwg] synonym: "bone marrow cell abnormalities" BROAD [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development [Term] id: MP:0002399 name: abnormal pluripotent precursor cell morphology/development def: "any structural anomaly of the cells that give rise to most types of cells necessary for fetal development" [MESH:A11.872.700, MGI:cwg] synonym: "pluripotent stem cell abnormalities" BROAD [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0002400 name: abnormal multipotent stem cell morphology def: "any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions" [MESH:A11.872.590, MGI:cwg] synonym: "multipotent stem cell abnormalities" BROAD [] is_a: MP:0002399 ! abnormal pluripotent precursor cell morphology/development [Term] id: MP:0002401 name: abnormal lymphopoiesis alt_id: MP:0000310 alt_id: MP:0001640 alt_id: MP:0001880 alt_id: MP:0008110 def: "atypical formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate" [MESH:G04.335.151.825.597.500] synonym: "abnormal lymphocyte differentiation" EXACT [] synonym: "lymphopoiesis abnormalities" EXACT [] is_a: MP:0002445 ! abnormal mononuclear cell differentiation is_a: MP:0002619 ! abnormal lymphocyte morphology is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0002403 name: abnormal pre-B cell morphology def: "any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells express the mu heavy chain in both the cytoplasm and on the cell surface; in addition to the mu heavy chain, other cell surface markers include CD45R, MHC class II, CD19, CD20, CD38, and CD40. synonym: "abnormal pre-B-cell morphology" EXACT [] is_a: MP:0005022 ! abnormal immature B cell morphology [Term] id: MP:0002404 name: increased intestinal adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period" [MGI:pvb] synonym: "increased intestinal adenomata incidence" EXACT [] synonym: "increased intestine adenoma incidence" EXACT [] is_a: MP:0010279 ! increased gastrointestinal tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002405 name: respiratory system inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0002406 name: increased susceptibility to infection alt_id: MP:0002550 alt_id: MP:0003001 def: "greater likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased resistance to infection" EXACT [] synonym: "susceptibility to infection" BROAD [] is_a: MP:0001793 ! altered susceptibility to infection [Term] id: MP:0002407 name: abnormal double-negative T cell morphology def: "any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8" [ISBN:0-8153-1691-7, MGI:cwg] comment: These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. synonym: "abnormal double negative T cell morphology" EXACT [] synonym: "CD4-CD8- T cell abnormalities" EXACT [] synonym: "double-negative T cell abnormalities" EXACT [] synonym: "double-negative T-cell abnormalities" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0002408 name: abnormal double-positive T cell morphology def: "any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells are precursors to mature T cells and are generally located in the thymus; during their development, the alpha and beta chains of the T cell receptor are rearranged and the TCR receptor can be expressed. synonym: "abnormal double positive T cell morphology" EXACT [] synonym: "CD4+CD8+ T cell abnormalities" EXACT [] synonym: "double-positive T cell abnormalities" EXACT [] synonym: "double-positive T-cell abnormalities" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0002409 name: decreased susceptibility to infection alt_id: MP:0002549 alt_id: MP:0003002 def: "reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "increased resistance to infection" EXACT [] synonym: "reduced susceptibility to infection" EXACT [] synonym: "resistance to infection" EXACT [] is_a: MP:0001793 ! altered susceptibility to infection [Term] id: MP:0002410 name: decreased susceptibility to viral infection def: "reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [MGI:cwg] synonym: "increased resistance to viral infection" EXACT [] synonym: "reduced susceptibility to viral infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection [Term] id: MP:0002411 name: decreased susceptibility to bacterial infection def: "reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [MGI:cwg] subset: Sanger_Terms synonym: "increased resistance to bacterial infection" EXACT [] synonym: "reduced susceptibility to bacterial infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection [Term] id: MP:0002412 name: increased susceptibility to bacterial infection def: "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [MGI:cwg] subset: Sanger_Terms synonym: "decreased resistance to bacterial infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection [Term] id: MP:0002413 name: abnormal megakaryocyte progenitor cell morphology def: "any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells" [MGI:cwg] synonym: "abnormal CFU-Mk morphology" EXACT [] synonym: "abnormal colony forming unit megakaryocyte morphology" EXACT [] synonym: "abnormal megacaryoblast morphology" RELATED [] synonym: "abnormal megacaryocyte progenitor cell morphology" EXACT [] synonym: "abnormal megakaryoblast morphology" EXACT [] synonym: "abnormal megakaryoblast morphology/development" RELATED [] synonym: "abnormal promegacaryocyte morphology" EXACT [] synonym: "abnormal promegakaryocyte morphology" EXACT [] synonym: "megakaryoblast abnormalities" BROAD [] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0002414 name: abnormal myeloblast morphology/development def: "any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells" [MGI:cwg] synonym: "myeloblast abnormalities" BROAD [] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0002415 name: abnormal neutrophil differentiation def: "atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes" [MESH:A11.118.637.415.583, MGI:cwg] synonym: "abnormal neutrophil development" EXACT [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0005065 ! abnormal neutrophil morphology is_a: MP:0008111 ! abnormal granulocyte differentiation [Term] id: MP:0002416 name: abnormal proerythroblast morphology def: "any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells" [MESH:A11.148.378.590.249.200, MGI:cwg] synonym: "abnormal proerythroblast morphology/development" EXACT [] synonym: "proerythroblast abnormalities" EXACT [] is_a: MP:0000245 ! abnormal erythropoiesis is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0002417 name: abnormal megakaryocyte morphology def: "any structural anomaly of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm" [CL:0000556, ISBN:0721601464] synonym: "abnormal megacaryocyte morphology" EXACT [] synonym: "abnormal megalocaryocyte morphology" EXACT [] synonym: "abnormal megalokaryocyte morphology" EXACT [] synonym: "megakaryocyte abnormalities" EXACT [] is_a: MP:0002413 ! abnormal megakaryocyte progenitor cell morphology [Term] id: MP:0002418 name: increased susceptibility to viral infection def: "greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [MGI:cwg] synonym: "decreased resistance to viral infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection [Term] id: MP:0002419 name: abnormal innate immunity def: "anomaly in the function of the early phase of the response to infection; normally, it is present at all times, does not increase with exposure to specific pathogens, and does not discriminate between pathogens" [ISBN:0-8153-1691-7] synonym: "innate immunity dysfunction" EXACT [] synonym: "natural immunity abnormalities" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002420 name: abnormal adaptive immunity def: "anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "acquired immune response dysfunction" EXACT [] synonym: "adaptive immunity dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002421 name: abnormal cell-mediated immunity def: "abnormal function of any adaptive immune response in which T cells play a main role" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "cell-mediated immunity dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002422 name: abnormal basophil morphology def: "any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation" [CL:0000767] synonym: "basophil abnormalities" BROAD [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0002423 name: abnormal mast cell physiology def: "any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules" [MESH:A11.329.427] synonym: "abnormal mast cell function" EXACT [] synonym: "mast cell abnormalities" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002424 name: abnormal reticulocyte morphology def: "any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus" [ISBN:978-0-323-05290-0] synonym: "abnormal immature erythrocyte morphology" EXACT [] synonym: "abnormal reticulocyte morphology/development" RELATED [] synonym: "reticulocyte abnormalities" BROAD [] is_a: MP:0000245 ! abnormal erythropoiesis [Term] id: MP:0002425 name: altered susceptibility to autoimmune disorder def: "a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides" [MESH:C20.111] synonym: "abnormal resistance to autoimmune disorder" EXACT [] synonym: "autoimmune disorder susceptibility" EXACT [] synonym: "autoimmune disorders" EXACT [] is_a: MP:0001844 ! autoimmune response [Term] id: MP:0002426 name: blood abnormalities def: "OBSOLETE. structural anomalies in the cells, fluids, or proteins found in the blood" [MGI:cwg] is_obsolete: true [Term] id: MP:0002427 name: disproportionate dwarf def: "abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size" [ISBN:0-683-40008-8, MGI:csmith] comment: In humans, dwarfism is defined as a condition in which the standing height of a person is below the third percentile. synonym: "disproportionate dwarfism" EXACT [] is_a: MP:0001265 ! decreased body size [Term] id: MP:0002428 name: abnormal semicircular canal morphology def: "any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MESH:A09.246.631.663, MGI:cwg] subset: Sanger_Terms is_a: MP:0002729 ! abnormal inner ear canal morphology [Term] id: MP:0002429 name: abnormal blood cell morphology/development alt_id: MP:0000178 alt_id: MP:0000205 alt_id: MP:0001576 alt_id: MP:0002545 def: "any structural anomaly of any of the cells found in the blood or hematopoietic organ" [MGI:cwg] synonym: "blood cell abnormalities" EXACT [] synonym: "blood cell defects" EXACT [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development [Term] id: MP:0002432 name: abnormal CD4-positive T cell morphology def: "any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MESH:A11.118.637.555.567.569.200, MGI:cwg] synonym: "abnormal CD4+ T cell morphology" EXACT [] synonym: "abnormal single positive T cell morphology" BROAD [] synonym: "CD4+ T-cell abnormalities" EXACT [] is_a: MP:0002435 ! abnormal effector T cell morphology [Term] id: MP:0002433 name: abnormal T-helper 1 cell morphology def: "any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149] synonym: "abnormal helper T cell type 1 morphology" EXACT [] synonym: "abnormal helper T lymphocyte type 1" EXACT [] synonym: "abnormal helper T-cell type 1" EXACT [] synonym: "abnormal helper T-lymphocyte type 1" EXACT [] synonym: "abnormal T helper 1 morphology" EXACT [] synonym: "abnormal TH1 cell" EXACT [] synonym: "T helper 1 abnormalities" EXACT [] synonym: "TH1 abnormalities" EXACT [] synonym: "Th1 abnormalities" EXACT [] is_a: MP:0010183 ! abnormal CD4-positive helper T cell morphology [Term] id: MP:0002434 name: abnormal T-helper 2 cell morphology def: "any structural anomaly of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149] synonym: "abnormal helper T cell type 2 morphology" EXACT [] synonym: "abnormal helper T lymphocyte type 2" EXACT [] synonym: "abnormal helper T-cell type 2" EXACT [] synonym: "abnormal helper T-lymphocyte type 2" EXACT [] synonym: "abnormal T helper 2 morphology" EXACT [] synonym: "abnormal TH2 cell" EXACT [] synonym: "T helper 2 abnormalities" EXACT [] synonym: "TH2 abnormalities" EXACT [] synonym: "Th2 abnormalities" EXACT [] is_a: MP:0010183 ! abnormal CD4-positive helper T cell morphology [Term] id: MP:0002435 name: abnormal effector T cell morphology def: "any structural anomaly of the set of T lymphocytes that are able to respond immediately upon contact with cells bearing the appropriate peptide:MHC complex for the cell" [MGI:cwg] synonym: "abnormal mature T cell morphology" RELATED [] synonym: "abnormal single positive T cell" RELATED [] synonym: "abnormal single-positive T cell" RELATED [] synonym: "effector T cell abnormalities" EXACT [] synonym: "effector T-cell abnormalities" EXACT [] is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0002436 name: abnormal CD8-positive, alpha-beta cytotoxic T cell morphology def: "any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner" [ISBN:0781735149] comment: Note that while T cells of this subset are loosely referred to 'cytotoxic T cells,' as many other T cell types, including CD4-positive, alpha-beta T cells and gamma-delta T cells exhibit cytotoxicity in vitro and in vivo. synonym: "abnormal CD8-positive, alpha-beta cytotoxic T lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta cytotoxic T-cell morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta cytotoxic T-lymphocyte morphology" EXACT [] synonym: "abnormal CTL morphology" BROAD [] synonym: "abnormal cytotoxic T cell morphology" BROAD [] synonym: "abnormal cytotoxic T lymphocyte morphology" BROAD [] synonym: "abnormal cytotoxic T-cell morphology" BROAD [] synonym: "abnormal cytotoxic T-lymphocyte morphology" BROAD [] synonym: "cytotoxic T cell abnormalities" BROAD [] synonym: "cytotoxic T-cell abnormalities" BROAD [] xref: CL:0000794 is_a: MP:0005010 ! abnormal CD8-positive T cell morphology [Term] id: MP:0002439 name: abnormal plasma cell morphology def: "any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith] comment: Plasma cells are terminally differentiated B cells and no longer respond to antigens or helper T cells. In addition, they no longer express surface Ig or surface MHC class II molecules, and they secrete antibody at high rates. synonym: "abnormal plasmacyte morphology" EXACT [] synonym: "plasma cell abnormalities" EXACT [] is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002440 name: abnormal memory B cell morphology def: "any structural anomaly of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149] synonym: "abnormal memory B lymphocyte" EXACT [] synonym: "abnormal memory B-cell" EXACT [] synonym: "abnormal memory-B lymphocyte" EXACT [] synonym: "memory B cell abnormalities" EXACT [] synonym: "memory B-cell abnormalities" EXACT [] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0002441 name: abnormal granulocyte morphology def: "any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MESH:A11.118.637.415, MGI:cwg] synonym: "granulocyte abnormalities" BROAD [] is_a: MP:0008250 ! abnormal myeloid leukocyte morphology [Term] id: MP:0002442 name: abnormal leukocyte physiology def: "any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes)" [ISBN:0-683-40008-8, MGI:cwg] synonym: "leukocyte dysfunction" EXACT [] is_a: MP:0001819 ! abnormal immune cell physiology is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002421 ! abnormal cell-mediated immunity [Term] id: MP:0002443 name: abnormal eosinophil differentiation def: "atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions" [CL:0000771] synonym: "abnormal eosinocyte differentiation" EXACT [] synonym: "abnormal eosinophil development" EXACT [] synonym: "abnormal eosinophilic leucocyte differentiation" EXACT [] synonym: "abnormal eosinophilic leukocyte differentiation" EXACT [] synonym: "abnormal polymorphonuclear leucocyte differentiation" EXACT [] synonym: "abnormal polymorphonuclear leukocyte differentiation" EXACT [] synonym: "eosinophil abnormalities" BROAD [] is_a: MP:0005061 ! abnormal eosinophil morphology is_a: MP:0008111 ! abnormal granulocyte differentiation [Term] id: MP:0002444 name: abnormal T cell physiology def: "any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation" [MGI:csmith] synonym: "abnormal T cell function" EXACT [] synonym: "abnormal T lymphocyte function" EXACT [] synonym: "t lymphocyte dysfunction" NARROW [] synonym: "T-cell dysfunction" NARROW [] is_a: MP:0003945 ! abnormal lymphocyte physiology [Term] id: MP:0002445 name: abnormal mononuclear cell differentiation def: "atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form" [CL:0000842] synonym: "abnormal mononuclear leukocyte differentiation" EXACT [] synonym: "mononuclear leukocyte development abnormalities" EXACT [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0002446 name: abnormal macrophage morphology def: "any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells" [CL:0000235, MGI:csmith] synonym: "macrophage abnormalities" BROAD [] synonym: "mononuclear phagocyte abnormalities" BROAD [] is_a: MP:0008195 ! abnormal antigen presenting cell morphology is_a: MP:0008248 ! abnormal mononuclear phagocyte morphology [Term] id: MP:0002447 name: abnormal erythrocyte morphology alt_id: MP:0002124 def: "any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function" [ISBN:978-0-323-05290-0] synonym: "abnormal definitive erythrocyte" NARROW [] synonym: "abnormal red blood cell morphology" EXACT [] synonym: "abnormal red corpuscle morphology" EXACT [] synonym: "erythrocyte abnormalities" BROAD [] synonym: "red blood cell abnormalities" BROAD [] xref: MGI:2173584 is_a: MP:0000245 ! abnormal erythropoiesis [Term] id: MP:0002450 name: abnormal lymph organ development def: "anomaly in the process of morphological maturation of the organs of the lymph system" [MGI:cwg] synonym: "lymph organ developmental abnormalities" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002451 name: abnormal macrophage physiology def: "any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells" [CL:0000235, MGI:csmith] synonym: "macrophage dysfunction" EXACT [] is_a: MP:0002419 ! abnormal innate immunity is_a: MP:0002442 ! abnormal leukocyte physiology is_a: MP:0002452 ! abnormal antigen presenting cell physiology [Term] id: MP:0002452 name: abnormal antigen presenting cell physiology def: "any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response" [CL:0000145, ISBN:0781735149, MGI:csmith] synonym: "antigen presenting cell dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology is_a: MP:0001819 ! abnormal immune cell physiology is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002421 ! abnormal cell-mediated immunity [Term] id: MP:0002453 name: abnormal B lymphocyte antigen presentation def: "anomaly in the ability of B lymphocyte to process and/or present antigen" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "B cell antigen presentation abnormalities" EXACT [] synonym: "lymphocyte antigen presentation dysfunction" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002459 ! abnormal B cell physiology is_a: MP:0003945 ! abnormal lymphocyte physiology [Term] id: MP:0002454 name: abnormal macrophage antigen presentation def: "anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes" [ISBN:0-8153-1691-7] synonym: "macrophage antigen presentation dysfunction" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002451 ! abnormal macrophage physiology [Term] id: MP:0002455 name: abnormal dendritic cell antigen presentation def: "anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes" [ISBN:0-8153-1691-7] synonym: "dendritic cell antigen presentation dysfunction" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002376 ! abnormal dendritic cell physiology [Term] id: MP:0002456 name: abnormal Langerhans cell antigen presentation def: "anomaly in the ability of phagocytic cells of the epidermis to display antigen for recognition by T lymphocytes" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "interdigitating reticular cell antigen presentation dysfunction" EXACT [] synonym: "Langerhans cell antigen presentation dysfunction" EXACT [] is_a: MP:0002455 ! abnormal dendritic cell antigen presentation is_a: MP:0005362 ! abnormal Langerhans cell physiology [Term] id: MP:0002458 name: abnormal B cell number def: "deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal B lymphocyte number" EXACT [] synonym: "abnormal B-cell number" EXACT [] is_a: MP:0000717 ! abnormal lymphocyte cell number is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002459 name: abnormal B cell physiology def: "any functional anomaly of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens" [MGI:csmith, MGI:cwg] synonym: "B cell dysfunction" EXACT [] synonym: "B lymphocyte dysfunction" EXACT [] synonym: "B lymphocyte functional anomalies" EXACT [] synonym: "B-cell dysfunction" EXACT [] is_a: MP:0002452 ! abnormal antigen presenting cell physiology is_a: MP:0003945 ! abnormal lymphocyte physiology [Term] id: MP:0002460 name: decreased immunoglobulin level alt_id: MP:0001814 def: "less than normal immunoglobulin level" [MGI:cwg] synonym: "decreased immunoglobulin concentration" EXACT [] synonym: "decreased serum level of immunoglobulin" NARROW [] synonym: "reduced immunoglobulin concentration" EXACT [] is_a: MP:0002490 ! abnormal immunoglobulin level [Term] id: MP:0002461 name: increased immunoglobulin level alt_id: MP:0001811 def: "greater than normal immunoglobulin level" [MGI:cwg] synonym: "increased immunoglobulin concentration" EXACT [] synonym: "increased serum level of immunoglobulin" NARROW [] is_a: MP:0002490 ! abnormal immunoglobulin level [Term] id: MP:0002462 name: abnormal granulocyte physiology def: "any functional anomaly of neutrophils, eosinophils, or basophils" [MGI:cwg] synonym: "granulocyte dysfunction" EXACT [] is_a: MP:0002442 ! abnormal leukocyte physiology [Term] id: MP:0002463 name: abnormal neutrophil physiology def: "abnormal function of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes" [ISBN:0721601464] synonym: "abnormal neutrocyte physiology" EXACT [] synonym: "abnormal neutrophil leucocyte physiology" EXACT [] synonym: "abnormal neutrophil leukocyte physiology" EXACT [] synonym: "abnormal neutrophilic leucocyte physiology" EXACT [] synonym: "abnormal neutrophilic leukocyte physiology" EXACT [] synonym: "abnormal PMN physiology" BROAD [] synonym: "abnormal polymorphonuclear leucocyte physiology" BROAD [] synonym: "abnormal polymorphonuclear leukocyte physiology" BROAD [] synonym: "abnormal polymorphonuclear neutrophil physiology" BROAD [] synonym: "abnormal polynuclear neutrophilic leucocyte physiology" BROAD [] synonym: "abnormal polynuclear neutrophilic leukocyte physiology" BROAD [] synonym: "neutrophil dysfunction" EXACT [] is_a: MP:0002419 ! abnormal innate immunity is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002464 name: abnormal basophil physiology def: "any functional anomaly of the leukocyte that contains granules that stain with basic dyes" [ISBN:0-683-40008-8, MGI:cwg] synonym: "basophil dysfunction" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002465 name: abnormal eosinophil physiology def: "any functional anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions" [CL:0000771, ISBN:0721601464] synonym: "abnormal eosinocyte physiology" EXACT [] synonym: "abnormal eosinophilic leucocyte physiology" EXACT [] synonym: "abnormal eosinophilic leukocyte physiology" EXACT [] synonym: "abnormal polymorphonuclear leucocyte physiology" BROAD [] synonym: "abnormal polymorphonuclear leukocyte physiology" BROAD [] synonym: "eosinophil dysfunction" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002467 name: impaired neutrophil phagocytosis def: "reduced ability of neutrophils to internalize particulate matter" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002463 ! abnormal neutrophil physiology [Term] id: MP:0002468 name: abnormal complement physiology def: "OBSOLETE. abnormal function of the set of plasma proteins that act together to attack extracellular pathogens" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "complement dysfunction" EXACT [] is_obsolete: true consider: MP:0002471 [Term] id: MP:0002469 name: abnormal C1 physiology def: "OBSOLETE. abnormal function of the complement protein, C1" [MGI:cwg] synonym: "C1 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002470 name: abnormal C2 physiology def: "OBSOLETE. abnormal function of the complement protein, C2" [MGI:cwg] synonym: "C2 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002471 name: abnormal complement pathway def: "impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes" [GO:0006956] synonym: "abnormal complement activation" RELATED [] synonym: "abnormal complement cascade" RELATED [] synonym: "abnormal complement response" RELATED [] synonym: "complement cascade dysfunction" EXACT [] xref: GO:0006956 is_a: MP:0001800 ! abnormal humoral immune response is_a: MP:0002419 ! abnormal innate immunity [Term] id: MP:0002472 name: impaired complement alternative pathway def: "abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002471 ! abnormal complement pathway [Term] id: MP:0002473 name: impaired complement classical pathway def: "abnormal function of the plasma protein cascade triggered by antigen:antibody complexes" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002471 ! abnormal complement pathway [Term] id: MP:0002474 name: abnormal C3 physiology def: "OBSOLETE. abnormal function of the complement protein, C3" [MGI:cwg] synonym: "C3 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002475 name: abnormal C4 physiology def: "OBSOLETE. abnormal function of the complement protein, C4" [MGI:cwg] synonym: "C4 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002476 name: abnormal C5 physiology def: "OBSOLETE. abnormal function of the complement protein, C5" [MGI:cwg] synonym: "C5 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002477 name: abnormal C6 physiology def: "OBSOLETE. abnormal function of the complement protein, C6" [MGI:cwg] synonym: "C6 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002478 name: abnormal C7 physiology def: "OBSOLETE. abnormal function of the complement protein, C7" [MGI:cwg] synonym: "C7 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002479 name: abnormal C8 physiology def: "OBSOLETE. abnormal function of the complement protein, C8" [MGI:cwg] synonym: "C8 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002480 name: abnormal C9 physiology def: "OBSOLETE. abnormal function of the complement protein, C9" [MGI:cwg] synonym: "C9 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002481 name: abnormal factor B physiology def: "OBSOLETE. abnormal function of the complement protein, factor B" [MGI:cwg] synonym: "Bf abnormalities" EXACT [] synonym: "factor B dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002482 name: abnormal factor D physiology def: "OBSOLETE. abnormal function of the complement protein, factor D" [MGI:cwg] synonym: "factor D dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002483 name: abnormal acute phase protein physiology def: "OBSOLETE. functional anomaly in the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection" [ISBN:0-8153-1691-7] synonym: "acute phase protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010211 [Term] id: MP:0002484 name: abnormal C-reactive protein physiology def: "OBSOLETE. anomaly in the function of this plasma protein that normally circulates in increased amounts during inflammation or after tissue damage" [MESH:D12.776.034.145] synonym: "C-reactive protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010212 [Term] id: MP:0002485 name: abnormal mannose-binding protein physiology def: "OBSOLETE. an anomaly in the function of this acute phase protein that normally opsonizes pathogens bearing mannose on their surfaces and can activate the complement system" [ISBN:0-8153-1691-7] synonym: "mannose-binding protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010211 [Term] id: MP:0002486 name: abnormal serum amyloid protein physiology def: "OBSOLETE. any functional anomaly in an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis" [MESH:D12.776.049.790] synonym: "abnormal SAA protein physiology" RELATED [] synonym: "abnormal Serum Amyloid A Protein physiology" EXACT [] synonym: "serum amyloid protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010214 [Term] id: MP:0002487 name: abnormal fibrinogen physiology def: "OBSOLETE. an anomaly in the function of this coaguable protein in the blood plasma" [ISBN:0-683-40008-8] synonym: "fibrinogen dysfunction" EXACT [] is_obsolete: true consider: MP:0010213 [Term] id: MP:0002488 name: abnormal phagocyte physiology def: "OBSOLETE. anomaly in the ability of these cells to ingest and internalize particulate matter" [MGI:cwg] synonym: "abnormal phagocytic cell physiology" EXACT [] synonym: "phagocytic cell dysfunction" EXACT [] is_obsolete: true [Term] id: MP:0002490 name: abnormal immunoglobulin level alt_id: MP:0001810 def: "deviation from the normal levels of glycoproteins present in the blood and other tissue, often functioning as antibodies" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms synonym: "abnormal immunoglobulin concentration" EXACT [] synonym: "abnormal serum immunoglobulin concentration" NARROW [] synonym: "abnormal serum level of immunoglobulin" NARROW [] is_a: MP:0001800 ! abnormal humoral immune response is_a: MP:0002459 ! abnormal B cell physiology is_a: MP:0002723 ! abnormal immune serum protein physiology [Term] id: MP:0002491 name: decreased IgD level def: "less than normal immunoglobulin class D level" [MGI:cwg] synonym: "reduced IgD level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level [Term] id: MP:0002492 name: decreased IgE level def: "less than normal immunoglobulin class E level" [MGI:cwg] subset: Europhenome_Terms synonym: "reduced IgE level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level [Term] id: MP:0002493 name: increased IgG level alt_id: MP:0001812 def: "greater than normal immunoglobulin class G level" [MGI:cwg] synonym: "hypergammaglobulinemia" EXACT [] synonym: "increased serum level of immunoglobulin G" NARROW [] is_a: MP:0002461 ! increased immunoglobulin level [Term] id: MP:0002494 name: increased IgM level alt_id: MP:0001813 def: "greater than normal immunoglobulin class M level" [MGI:cwg] subset: Europhenome_Terms synonym: "increased serum level of immunoglobulin M" NARROW [] is_a: MP:0002461 ! increased immunoglobulin level [Term] id: MP:0002495 name: increased IgA level def: "greater than normal immunoglobulin class A level" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002461 ! increased immunoglobulin level [Term] id: MP:0002496 name: increased IgD level def: "greater than normal immunoglobulin class D level" [MGI:cwg] is_a: MP:0002461 ! increased immunoglobulin level [Term] id: MP:0002497 name: increased IgE level def: "greater than normal immunoglobulin class E level" [MGI:cwg] subset: Europhenome_Terms is_a: MP:0002461 ! increased immunoglobulin level [Term] id: MP:0002498 name: abnormal acute inflammation def: "aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response" [ISBN:0-397-51047-0, ISBN:0-8153-1691-7] synonym: "acute inflammation" EXACT [] synonym: "leukocyte infiltration" EXACT [] is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0002499 name: chronic inflammation def: "persistent inflammatory response, often caused by persistent infection or during an autoimmune response" [ISBN:0-8153-1691-7] comment: Characterized by presence of lymphocytes, plasma cells, and macrophages. is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0002500 name: granulomatous inflammation def: "chronic inflammation resulting from the failure of the acute inflammatory response and persistence of the injurious agent; characterized by a central area of macrophages, often fused into giant cells, and surrounded by T cells" [ISBN:0-397-51047-0, ISBN:0-8153-1691-7] is_a: MP:0002499 ! chronic inflammation [Term] id: MP:0002501 name: abnormal inflammatory mediator physiology def: "OBSOLETE. functional anomaly of any of the endogenous compounds that mediate the local accumulation of fluid, plasma proteins, and leukocytes at the site of injury, insult, or infection" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "inflammatory mediators" EXACT [] is_obsolete: true [Term] id: MP:0002502 name: abnormal vasoactive mediator physiology def: "OBSOLETE. functional anomaly of any of the endogenous compounds that act on the vasculature" [MGI:cwg] is_obsolete: true [Term] id: MP:0002503 name: abnormal histamine physiology def: "any functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter" [MGI:monikat] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0002504 name: abnormal serotonin physiology def: "OBSOLETE. functional anomaly of this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets; it normally mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8] synonym: "abnormal 5-HT physiology" EXACT [] is_obsolete: true consider: MP:0005322 [Term] id: MP:0002505 name: abnormal bradykinin physiology def: "OBSOLETE. functional anomaly of this potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability" [ISBN:0-397-51047-0] is_obsolete: true consider: MP:0009812 [Term] id: MP:0002506 name: abnormal anaphylotoxin physiology def: "OBSOLETE. functional anomaly of any of the small fragments of complement proteins released by cleavage during complement activation, they are chemotactic and vasoactive" [ISBN:0-8153-1691-7] is_obsolete: true [Term] id: MP:0002507 name: abnormal C4a physiology def: "OBSOLETE. functional anomaly of complement fragment C4a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002508 name: abnormal complement 5a physiology def: "OBSOLETE. functional anomaly of this product of complement activation that is a potent chemotactic factor for neutrophils, monocytes, and basophils and enhances smooth muscle contraction and vascular permeability" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal C5a physiology" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002509 name: abnormal C3a physiology def: "OBSOLETE. functional anomaly of complement fragment C3a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002510 name: abnormal leukotriene physiology def: "OBSOLETE. functional anomaly of any of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells" [ISBN:0-397-51047-0] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002511 name: abnormal leukotriene C4 physiology def: "OBSOLETE. any functional anomaly of the conjugation product of leukotriene a4 and glutathione; it is the major arachidonic acid metabolite in macrophages and mast cells as well as in antigen-sensitized lung tissue, and it normally stimulates mucus secretion in the lung, and produces contractions of nonvascular and some vascular smooth muscle" [http://cancerweb.ncl.ac.uk] synonym: "abnormal LTC4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002512 name: abnormal leukotriene D4 physiology def: "OBSOLETE. any functional anomaly of a leukotriene c4 derivative generated after partial hydrolysis of the gamma-glutamyl portion of the peptide chain; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability" [http://cancerweb.ncl.ac.uk] synonym: "abnormal LTD4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002513 name: abnormal leukotriene E4 physiology def: "OBSOLETE. any functional anomaly of a leukotriene d4 derivative generated by a peptidase reaction that removes the glycine residue; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability" [http://cancerweb.ncl.ac.uk] synonym: "abnormal LTE4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002514 name: abnormal prostaglandin physiology def: "OBSOLETE. functional anomaly of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002515 name: PGD2 def: "OBSOLETE." [MGI:csmith] synonym: "prostaglandin D2" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002516 name: abnormal PGE2 physiology def: "OBSOLETE. functional anomaly of this member of the prostaglandin family, which normally has vasodilatory effects, increasing vascular permeability" [ISBN:0-397-51047-0] synonym: "abnormal prostaglandin E2 physiology" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002517 name: abnormal PGI2 physiology def: "OBSOLETE. functional anomaly of this member of the prostaglandin family that normally has vasodilatory effects, increasing vascular permeability" [ISBN:0-397-51047-0] synonym: "abnormal prostacyclin physiology" EXACT [] synonym: "abnormal prostaglandin I2 physiology" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002518 name: abnormal PGF2alpha physiology def: "OBSOLETE. functional anomaly of this prostaglandin that normally has vasocontractile, oxytocic, luteolytic, and abortifacient activities" [MGI:cwg] synonym: "abnormal prostaglandin F2alpha physiology" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002519 name: abnormal thromboxane physiology def: "OBSOLETE. functional anomaly of any of the members of a family of mediators with vasoactive effects" [MGI:cwg] synonym: "abnormal TxB2 physiology" EXACT [] is_obsolete: true consider: MP:0009818 [Term] id: MP:0002520 name: abnormal TxA2 physiology def: "OBSOLETE. functional anomaly of this potent vasoconstrictor that also mediates platelet aggregation" [ISBN:0-397-51047-0] synonym: "abnormal thromboxane A2 physiology" EXACT [] is_obsolete: true consider: MP:0009818 [Term] id: MP:0002521 name: abnormal platelet activating factor physiology def: "OBSOLETE. functional anomaly of this mediator generated by nearly all activated inflammatory cells, endothelial cells, and injured tissue cells; normally it is a potent vasodilator and enhances microvasculature permeability, in addition, it induces platelet aggregation and degranulation at sites of injury and enhances the release of serotonin" [ISBN:0-397-51047-0] synonym: "abnormal PAF physiology" EXACT [] is_obsolete: true [Term] id: MP:0002522 name: abnormal chemotactic factor physiology def: "OBSOLETE. functional anomaly of any of a class of pro-inflammatory proteins that attract and activate leukocytes" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true [Term] id: MP:0002523 name: abnormal chemotactic complement factor physiology def: "OBSOLETE. functional anomaly of any of a subset of complement fragments that are involved in recruitment of leukocytes to the site of injury" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "chemotactic complement factors" EXACT [] is_obsolete: true [Term] id: MP:0002524 name: lipoxygenase products def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002525 name: abnormal leukotriene B4 physiology def: "OBSOLETE. functional anomaly of this product of inflammatory cell activation that is a potent chemoattractant for macrophages and neutrophils" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal LTB4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002526 name: abnormal chemokine physiology def: "OBSOLETE. functional anomaly of any of the class of pro-inflammatory cytokines that attract and activate leukocytes" [MESH:D12.644.276.374.200, MGI:cwg] is_obsolete: true consider: MP:0008721 consider: MP:0008722 consider: MP:0010209 [Term] id: MP:0002527 name: abnormal interleukin-8 physiology def: "OBSOLETE. functional anomaly of this protein secreted by macrophages and is chemotactic for neutrophils and T cells" [ISBN:0-8153-1691-7] synonym: "abnormal IL-8 physiology" EXACT [] is_obsolete: true [Term] id: MP:0002528 name: abnormal interleukin-1 physiology def: "OBSOLETE. functional anomaly of this soluble factor produced by macrophages/monocytes that activates vascular endothelium and lymphocytes" [ISBN:0-8153-1691-7] comment: This term is obsolete. Instead, use the terms abnormal circulating interleukin-1 level (MP:0008589) and its children or abnormal interleukin-1 secretion (MP:0008650) and its children. synonym: "abnormal IL-1 physiology" EXACT [] is_obsolete: true consider: MP:0008589 consider: MP:0008650 [Term] id: MP:0002529 name: abnormal interleukin physiology def: "OBSOLETE. functional anomaly of any of the cytokines produced by leukocytes" [ISBN:0-8153-1691-7] synonym: "abnormal lymphokines physiology" EXACT [] is_obsolete: true consider: MP:0008568 consider: MP:0008588 [Term] id: MP:0002530 name: abnormal tumor necrosis factor physiology def: "OBSOLETE. functional anomaly of this cytokine produced by macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7] comment: This term is obsolete. Instead, use the terms abnormal tumor necrosis factor level (MP:0008752) and its children or abnormal tumor necrosis factor secretion (MP:0008556) and its children. synonym: "abnormal cachectin physiology" EXACT [] synonym: "abnormal TNF physiology" EXACT [] synonym: "abnormal TNFA physiology" EXACT [] synonym: "abnormal tumor necrosis factor alpha physiology" EXACT [] is_obsolete: true consider: MP:0008556 consider: MP:0008752 [Term] id: MP:0002531 name: abnormal type I hypersensitivity reaction def: "anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks" [ISBN:0-397-51047-0] comment: Examples: hay fever, asthma, and anaphylaxis. synonym: "anaphylaxis" EXACT [] synonym: "immediate type hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002532 name: abnormal type II hypersensitivity reaction def: "anomaly in the response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved" [ISBN:0-397-51047-0] comment: Examples: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigous, and pemphigoid. synonym: "antibody-mediated cellular toxicity" EXACT [] synonym: "cytotoxic type hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002533 name: abnormal type III hypersensitivity reaction def: "anomaly in the tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury" [ISBN:0-397-51047-0] comment: Examples: Autoimmune diseases: systemic lupus erythmatosus (SLE), rheumatoid arthritis, sjogren syndrome, scleroderma and glomerulonephritis. synonym: "immune complex mediated hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002534 name: abnormal type IV hypersensitivity reaction def: "anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact" [ISBN:0-397-51047-0] comment: Examples: granulomatous diseases: tuberculosis, sarcoidosis. contact dermatitis: elicited by poison ivy, detergents, clothing, etc. synonym: "cell-mediated hypersensitivity" EXACT [] synonym: "contact hypersensitivity" EXACT [] synonym: "delayed type hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002421 ! abnormal cell-mediated immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002535 name: combined T cell/ B cell deficiency def: "OBSOLETE. Use cell-mediated immunity instead. defective or absent host defense involving both B and T cells" [MGI:cwg] synonym: "combined T-cell/B-cell deficiency" EXACT [] is_obsolete: true consider: MP:0002421 [Term] id: MP:0002536 name: severe combined immunodeficiency disease def: "OBSOLETE. rare congenital disorder characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels" [] comment: This is a disease term. synonym: "SCID" EXACT [] is_obsolete: true [Term] id: MP:0002538 name: Di George syndrome def: "OBSOLETE. congenital syndrome with absence of thymus and parathyroids, causing impaired cellular immunity; immunoglobulin levels are normal" [] comment: this is a disease term, not a phenotype term is_obsolete: true [Term] id: MP:0002539 name: B cell deficiency def: "OBSOLETE. defective or absent host defense involving B cells" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "B-cell deficiency" EXACT [] synonym: "deficiency of antibody immunity" EXACT [] is_obsolete: true consider: MP:0008071 [Term] id: MP:0002540 name: congenital X-linked infantile hypogammaglobulinemia def: "OBSOLETE. an immunologic deficiency state characterized by very low level of generally all classes of gamma-immunoglobulins" [MGI:cwg] is_obsolete: true [Term] id: MP:0002541 name: selective IgA deficiency def: "OBSOLETE. an immunologic deficiency state characterized by very low levels of the immunoglobulin class A" [OMIM:Online Mendelian Inheritance in Man] is_obsolete: true consider: MP:0001807 [Term] id: MP:0002543 name: brachyphalangia def: "abnormally short phalanges" [ISBN:0-683-40008-8] synonym: "short phalanges" EXACT [] is_a: MP:0004686 ! decreased length of long bones is_a: MP:0005306 ! abnormal phalanx morphology [Term] id: MP:0002544 name: brachydactyly def: "abnormally short digits" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "short digits" EXACT [] synonym: "short fingers" NARROW [] synonym: "short toes" NARROW [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0002546 name: mydriasis alt_id: MP:0001321 alt_id: MP:0002860 def: "increased diameter of one or both central circular aperture of the iris through which light rays enter the eye" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "dilated pupils" EXACT [] synonym: "enlarged pupils" EXACT [] synonym: "increased pupil size" EXACT [] synonym: "large pupils" EXACT [] synonym: "pupil dilation" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0002551 name: abnormal blood coagulation alt_id: MP:0000210 alt_id: MP:0001582 def: "altered ability or inability of the blood to clot" [MGI:csmith] synonym: "abnormal clotting" EXACT [] synonym: "hematology: abnormal blood coagulation" EXACT [] xref: MGI:2173585 is_a: MP:0009676 ! abnormal hemostasis [Term] id: MP:0002552 name: abnormal response to addictive substance def: "OBSOLETE. aberrant behavioral or physiological reaction to an addictive substance" [MGI:csmith] is_obsolete: true consider: MP:0009748 [Term] id: MP:0002553 name: preference for addictive substance def: "strong predilection for an addictive substance" [MGI:csmith] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0002554 name: aversion to addictive substance def: "purposeful avoidance of an addictive substance due to dislike" [MGI:csmith] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0002555 name: addiction def: "strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds" [MGI:csmith] is_a: MP:0002553 ! preference for addictive substance [Term] id: MP:0002556 name: abnormal cocaine consumption alt_id: MP:0002569 def: "aberrant behavioral-related or physiological-related intake of cocaine into the body" [MGI:csmith] synonym: "cocaine consumption" EXACT [] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0002557 name: abnormal social/conspecific interaction alt_id: MP:0001351 def: "deviation of the normal behavior of animals towards each other" [MGI:csmith] subset: Europhenome_Terms synonym: "abnormal social behavior" EXACT [] synonym: "abnormal socialization" EXACT [] synonym: "neurological/behavioral: social/conspecific interaction anomalies" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002558 name: abnormal circadian period def: "any change in the cycle length expressed when exposed to constant conditions without temporal cues" [MGI:CFG] is_a: MP:0001502 ! abnormal circadian rhythm [Term] id: MP:0002559 name: abnormal circadian persistence def: "anomaly in the ability for an animal to retain a circadian rhythm when time cues are removed" [MGI:CFG] is_a: MP:0001502 ! abnormal circadian rhythm [Term] id: MP:0002560 name: arrhythmic circadian persistence def: "loss of any rhythmic pattern upon removal of time cues" [MGI:CFG] is_a: MP:0002559 ! abnormal circadian persistence [Term] id: MP:0002561 name: abnormal circadian phase def: "anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)" [MGI:CFG] is_a: MP:0001502 ! abnormal circadian rhythm [Term] id: MP:0002562 name: prolonged circadian period def: "increase in the cycle length expressed when exposed to constant conditions without temporal cues" [MGI:CFG] is_a: MP:0002558 ! abnormal circadian period [Term] id: MP:0002563 name: shortened circadian period def: "decrease in the cycle length expressed when exposed to constant conditions without temporal cues" [MGI:CFG] is_a: MP:0002558 ! abnormal circadian period [Term] id: MP:0002564 name: advanced circadian phase def: "increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)" [MGI:CFG] synonym: "decreased circadian phase delay" EXACT [] is_a: MP:0002561 ! abnormal circadian phase [Term] id: MP:0002565 name: delayed circadian phase def: "decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)" [MGI:CFG] synonym: "increased circadian phase delay" EXACT [] is_a: MP:0002561 ! abnormal circadian phase [Term] id: MP:0002566 name: abnormal sexual interaction alt_id: MP:0001369 alt_id: MP:0001370 alt_id: MP:0001374 def: "altered initiation, failure of initiation or incomplete mating behavior" [MGI:csmith] synonym: "abnormal breeding" EXACT [] synonym: "abnormal breeding/mating" EXACT [] synonym: "abnormal mating" EXACT [] synonym: "abnormal mating behavior" RELATED [] is_a: MP:0002557 ! abnormal social/conspecific interaction [Term] id: MP:0002567 name: abnormal odor preference def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002568 name: addiction/drug abuse def: "OBSOLETE." [MGI:csmith] synonym: "neurological/behavioral: addiction/drug abuse" EXACT [] is_obsolete: true [Term] id: MP:0002570 name: alcohol aversion def: "purposeful avoidance of alcohol due to dislike" [MGI:csmith] synonym: "ethanol aversion" EXACT [] is_a: MP:0001423 ! abnormal liquid preference is_a: MP:0001425 ! abnormal alcohol consumption is_a: MP:0002554 ! aversion to addictive substance [Term] id: MP:0002571 name: senility def: "a degenerative state of brain function manifesting in an impairment of memory, judgment, attention span, problem solving skills, the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function, and a global loss of cognitive abilities" [MGI:csmith] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0002572 name: abnormal emotion/affect behavior def: "altered response in tests for emotional related behaviors" [MGI:csmith] synonym: "neurological/behavioral: emotion/affect abnormalities" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002573 name: behavioral despair def: "depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli" [PMID:11875023] is_a: MP:0003360 ! abnormal depression-related behavior [Term] id: MP:0002574 name: increased vertical activity def: "greater than average time spent jumping or rearing" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased rearing" EXACT [] synonym: "increased reconnoitering behavior" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0002575 name: increased circulating ketone body level def: "greater than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [ISBN:0-683-40008-8] comment: Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. synonym: "elevated circulating ketone body level" EXACT [] synonym: "elevated plasma ketone body level" EXACT [] synonym: "elevated serum ketone body level" EXACT [] synonym: "hyperketonemia" EXACT [] is_a: MP:0003457 ! abnormal circulating ketone body level [Term] id: MP:0002576 name: abnormal enamel morphology def: "any structural anomaly of the hard outer coating of the exposed portion of the tooth" [ISBN:0-683-40008-8, MGI:csmith] synonym: "enamel dysplasia" EXACT [] is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0002577 name: reduced enamel thickness def: "thin hard coating of the exposed portion of the tooth" [MGI:csmith] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0002578 name: impaired ability to fire action potentials def: "anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs" [J:51377, MGI:csmith] is_a: MP:0005402 ! abnormal action potential [Term] id: MP:0002579 name: disorganized secondary lens fibers def: "deformation or misalignment of the elongated cells that form the crystalline lens" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002840 ! abnormal lens fiber morphology [Term] id: MP:0002580 name: duodenal lesions def: "focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue" [MGI:csmith] is_a: MP:0003271 ! abnormal duodenum morphology [Term] id: MP:0002581 name: abnormal ileum morphology def: "any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon" [ISBN:0-683-40008-8, MGI:csmith] synonym: "ileum dysplasia" EXACT [] is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0002582 name: disorganized extraembryonic tissue def: "a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition" [J:40596, MGI:csmith] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0002583 name: absent extraembryonic ectoderm def: "absence of the endoderm layer of the extraembryonic tissue" [J:40596, MGI:csmith] synonym: "absence of extraembryonic ectoderm" EXACT [] is_a: MP:0010736 ! abnormal extraembryonic ectoderm morphology [Term] id: MP:0002584 name: small ectoplacental cone def: "reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta" [MGI:cwg] synonym: "small epamniotic cone" EXACT [] is_a: MP:0005032 ! abnormal ectoplacental cone morphology [Term] id: MP:0002585 name: abnormal response/metabolism to xenobiotics def: "OBSOLETE. altered ability or inability to metabolize or respond to foreign substances" [MGI:csmith, MGI:cwg] comment: This term has been rendered obsolete. Please use instead the terms abnormal pharmacogenetics of xenobiotics (MP:0008875) or abnormal response to xenobiotics (MP:0008872). synonym: "abnormal metabolism of xenobiotics" EXACT [] is_obsolete: true consider: MP:0008872 consider: MP:0008875 [Term] id: MP:0002586 name: abnormal platelet volume def: "anomaly in the content of platelet cells over normal" [MGI:cml] is_a: MP:0004720 ! abnormal platelet morphology [Term] id: MP:0002587 name: heart/cardiovascular system: characteristics def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002588 name: blood cell characteristics def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002589 name: mean corpuscular volume traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002590 name: increased mean corpuscular volume def: "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "high MCV" EXACT [] synonym: "high mean corpuscular volume" EXACT [] synonym: "increased MCV" EXACT [] is_a: MP:0000226 ! abnormal mean corpuscular volume [Term] id: MP:0002591 name: decreased mean corpuscular volume def: "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased MCV" EXACT [] synonym: "low MCV" EXACT [] synonym: "low mean corpuscular volume" EXACT [] synonym: "reduced mean corpuscular volume" EXACT [] is_a: MP:0000226 ! abnormal mean corpuscular volume [Term] id: MP:0002592 name: mean erythrocyte count traits def: "OBSOLETE." [MGI:csmith] synonym: "mean red blood cell traits" EXACT [] is_obsolete: true [Term] id: MP:0002593 name: high mean erythrocyte cell number def: "greater than average numbers of red blood cells" [MGI:cwg] synonym: "high mean erythrocyte count" EXACT [] synonym: "high mean RBC count" EXACT [] synonym: "high mean red blood cell count" EXACT [] is_a: MP:0003131 ! increased erythrocyte cell number [Term] id: MP:0002594 name: low mean erythrocyte cell number def: "less than average numbers of red blood cells" [MGI:cwg] synonym: "low mean erythrocyte count" EXACT [] synonym: "low mean RBC count" EXACT [] synonym: "low mean red blood cell count" EXACT [] is_a: MP:0002875 ! decreased erythrocyte cell number [Term] id: MP:0002596 name: abnormal hematocrit alt_id: MP:0000206 alt_id: MP:0001578 def: "greater or less than the average percentage of a volume of a blood sample occupied by red blood cells" [MESH:E01.450.375.400] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002597 name: platelet traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002598 name: mean platelet volume traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002599 name: increased mean platelet volume def: "increased average content of platelet cells over normal" [MGI:cml] subset: Europhenome_Terms subset: Sanger_Terms synonym: "high mean platelet volume" EXACT [] synonym: "increased MPV" EXACT [] is_a: MP:0002586 ! abnormal platelet volume [Term] id: MP:0002600 name: mean leukocyte count traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002601 name: lymphocyte count traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002602 name: abnormal eosinophil cell number def: "deviation from the normal numbers of eosinophils" [MGI:cwg] synonym: "abnormal eosinophil count" EXACT [] synonym: "eosinophil count traits" EXACT [] is_a: MP:0000717 ! abnormal lymphocyte cell number is_a: MP:0005061 ! abnormal eosinophil morphology [Term] id: MP:0002603 name: basophil count traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002604 name: neutrophil count traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002605 name: monocyte count traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002606 name: increased basophil cell number def: "higher than average number of basophils as measured by the percent of the total number of leukocytes" [CL:0000767, MGI:csmith, MPD:Mouse_Phenome_Database] synonym: "high basophil count" EXACT [] synonym: "increased basophil count" EXACT [] synonym: "increased basophil number" EXACT [] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0002422 ! abnormal basophil morphology [Term] id: MP:0002607 name: decreased basophil cell number def: "lower than average number of basophils as measured by the percent of the total number of leukocytes" [CL:0000767, MGI:csmith, MPD:Mouse_Phenome_Database] synonym: "decreased basophil count" EXACT [] synonym: "decreased basophil number" EXACT [] synonym: "low basophil count" EXACT [] synonym: "reduced basophil cell number" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0002422 ! abnormal basophil morphology [Term] id: MP:0002608 name: increased hematocrit alt_id: MP:0000207 alt_id: MP:0001579 def: "greater than average percentage of a volume of a blood sample occupied by red blood cells" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002596 ! abnormal hematocrit [Term] id: MP:0002609 name: blood physiology traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002610 name: blood chemistry traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002611 name: glucose homeostasis traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002614 name: lipid homeostasis traits def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002619 name: abnormal lymphocyte morphology alt_id: MP:0005063 def: "any structural anomaly of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells" [MGI:csmith] synonym: "lymphocyte abnormalities" BROAD [] synonym: "lymphocyte structural abnormalities" EXACT [] is_a: MP:0008247 ! abnormal mononuclear cell morphology [Term] id: MP:0002620 name: abnormal monocyte morphology def: "any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood" [CL:0000576, MGI:csmith] synonym: "monocyte abnormalities" BROAD [] is_a: MP:0008248 ! abnormal mononuclear phagocyte morphology [Term] id: MP:0002621 name: delayed neural tube closure def: "delay in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline" [J:79790, MGI:cml] is_a: MP:0003720 ! abnormal neural tube closure [Term] id: MP:0002622 name: abnormal cochlear hair cell morphology def: "any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8, MGI:pvb] synonym: "abnormal auditory hair cell morphology" EXACT [CL:0000202] synonym: "abnormal cochlear hair cells morphology" EXACT [] is_a: MP:0000042 ! abnormal organ of Corti morphology is_a: MP:0000045 ! abnormal hair cell morphology is_a: MP:0003308 ! abnormal cochlear sensory epithelium morphology [Term] id: MP:0002623 name: abnormal vestibular hair cell morphology def: "any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal vestibular hair cells morphology" EXACT [] is_a: MP:0000034 ! abnormal vestibule morphology is_a: MP:0000045 ! abnormal hair cell morphology [Term] id: MP:0002624 name: abnormal tricuspid valve morphology def: "any structural anomaly of the valve located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (anulus)" [ISBN:0-683-40008-8, MESH:A07.541.510.893] subset: CvDC_Terms synonym: "abnormal tricuspid valvar morphology" EXACT [] synonym: "tricuspid valvar dysplasia" EXACT [] synonym: "tricuspid valve dysplasia" EXACT [] is_a: MP:0002745 ! abnormal atrioventricular valve morphology [Term] id: MP:0002625 name: heart left ventricle hypertrophy alt_id: Fyler:3608 def: "increased size of the left ventricle" [MGI:pvb] subset: CvDC_Terms synonym: "hypertrophic left ventricle" EXACT [] synonym: "left ventricle hypertrophy" EXACT [] synonym: "left ventricular hypertrophy" EXACT [] is_a: MP:0001625 ! cardiac hypertrophy is_a: MP:0010579 ! increased heart left ventricle size [Term] id: MP:0002626 name: increased heart rate def: "greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute" [MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "tachycardia" EXACT [] is_a: MP:0001629 ! abnormal heart rate [Term] id: MP:0002627 name: teratoma def: "neoplasms composed of multiple tissue types; includes types not found in tissue in which lesion arises" [ISBN:0-683-40008-8, MGI:pvb] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002628 name: hepatic steatosis def: "an accumulation of fat deposits in the liver" [MGI:pvb] synonym: "fatty liver" EXACT [] synonym: "hepatic lipidosis" RELATED [] synonym: "liver adiposis" EXACT [] synonym: "liver steatosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0002629 name: hyperactivity elicited by ethanol administration def: "increased activity after ingestion of alcohol" [MGI:Nmice] synonym: "hyperactivity elicited by alcohol administration" EXACT [] is_a: MP:0001399 ! hyperactivity is_a: MP:0009751 ! enhanced behavioral response to alcohol [Term] id: MP:0002630 name: abnormal endocochlear potential def: "any alterations in the electrical potential difference (+80 - 100 mV) between the endolymphatic and perilymphatic compartments of the cochlea; this potential is generated by the stria vascularis" [J:80917, MGI:pvb] synonym: "abnormal endolymphatic potential" EXACT [] synonym: "abnormal EP" EXACT [] is_a: MP:0006335 ! abnormal hearing electrophysiology is_a: MP:0006390 ! abnormal cochlear endolymph [Term] id: MP:0002631 name: abnormal epididymis morphology def: "any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:pvb] synonym: "abnormal parorchis morphology" EXACT [] synonym: "epididymis dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0002632 name: vestigial tail def: "a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure" [ISBN:0-683-40008-8, MGI:pvb] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0002633 name: persistent truncus arteriosis alt_id: Fyler:0500 alt_id: Fyler:500 def: "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [ISBN:0-683-40008-8, MGI:pvb] subset: CvDC_Terms synonym: "common arterial trunk" EXACT [] synonym: "persistent truncus arteriosus" EXACT [] synonym: "PTA" EXACT [] synonym: "single outflow tract" EXACT [] synonym: "truncus arteriosis" EXACT [] is_a: MP:0010426 ! abnormal heart and great artery attachment is_a: MP:0010454 ! abnormal truncus arteriosus septation is_a: MP:0010651 ! aorticopulmonary septal defect [Term] id: MP:0002634 name: abnormal sensorimotor gating def: "malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)" [J:42758, MGI:pvb] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0002635 name: reduced sensorimotor gating def: "attenuation of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)" [MGI:pvb] is_a: MP:0002634 ! abnormal sensorimotor gating [Term] id: MP:0002636 name: delayed vaginal opening def: "the opening of the genital canal in a female occurring at a later than expected age" [MGI:cwg] synonym: "delayed vaginal opening time" EXACT [] is_a: MP:0001938 ! delayed sexual maturation [Term] id: MP:0002637 name: small uterus def: "reduced size of the female muscular organ of gestation" [MGI:csmith] synonym: "decreased uterine size" EXACT [] synonym: "decreased uterus size" EXACT [] synonym: "reduced uterine size" EXACT [] synonym: "reduced uterus size" EXACT [] synonym: "small metra" EXACT [] is_a: MP:0004902 ! abnormal uterus size [Term] id: MP:0002638 name: abnormal pupillary reflex def: "alterations or failure of the pupil to change in diameter as a reflex response to any stimulus" [ISBN:0-683-40008-8, MGI:cml] is_a: MP:0001961 ! abnormal reflex is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0002639 name: micrognathia alt_id: Fyler:4163 def: "abnormally reduced size of the jaws, especially of the mandible" [ISBN:0-683-40008-8, MGI:pvb] subset: CvDC_Terms synonym: "brachygnathia" NARROW [] synonym: "brachygnathism" NARROW [] synonym: "mandibular hypoplasia" NARROW [] synonym: "micrognathism" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0002640 name: reticulocytosis def: "an increase in the number of circulating reticulocytes, which is normally less than 1 per cent of the total number of red blood cells" [ISBN:0-683-40008-8] synonym: "increased immature erythrocyte number" EXACT [] synonym: "increased reticulocyte number" EXACT [] is_a: MP:0002424 ! abnormal reticulocyte morphology is_a: MP:0011181 ! increased hematopoietic cell number [Term] id: MP:0002641 name: anisopoikilocytosis def: "presence in blood of RBCs of abnormal shapes and sizes" [J:78271, MGI:cwg] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002642 name: anisocytosis alt_id: MP:0000246 alt_id: MP:0001609 def: "considerable variation of the size of red blood cells compared to a normal range" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0010067 ! increased red blood cell distribution width [Term] id: MP:0002643 name: poikilocytosis def: "blood cells of variable shape on smear" [J:7209, MGI:cwg] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002644 name: decreased circulating triglyceride level alt_id: MP:0005143 def: "lower than normal concentration of triacylglycerols in the blood" [ISBN:0-683-40008-8, MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "low plasma triacylglycerol level" EXACT [] synonym: "low plasma triglyceride level" EXACT [] synonym: "low serum triacylglycerol level" EXACT [] synonym: "low serum triglyceride level" EXACT [] synonym: "reduced circulating triglyceride level" EXACT [] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0005318 ! decreased triglyceride level [Term] id: MP:0002645 name: abnormal intestinal cholesterol absorption def: "any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine" [GO:0030299, ISBN:0-683-40008-8] is_a: MP:0005342 ! abnormal intestinal lipid absorption [Term] id: MP:0002646 name: increased intestinal cholesterol absorption def: "augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine" [GO:0030299, ISBN:0-683-40008-8] synonym: "increased cholesterol absorption" RELATED [] is_a: MP:0002645 ! abnormal intestinal cholesterol absorption [Term] id: MP:0002647 name: decreased intestinal cholesterol absorption def: "reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine" [GO:0030299, ISBN:0-683-40008-8] synonym: "decreased cholesterol absorption" RELATED [] synonym: "reduced cholesterol absorption" RELATED [] synonym: "reduced intestinal cholesterol absorption" EXACT [] is_a: MP:0002645 ! abnormal intestinal cholesterol absorption [Term] id: MP:0002648 name: delaminated enamel def: "separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0002649 name: abnormal enamel rod pattern def: "any anomaly in the orientation of the structural unit of tooth enamel" [ISBN:0-683-40008-8] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0002650 name: abnormal ameloblast morphology def: "any structural anomaly of the epithelial cells of the inner layer of the enamel organ of the developing tooth" [ISBN:0-683-40008-8, MGI:il] synonym: "abnormal ameloblast cell morphology" EXACT [] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0002651 name: abnormal sciatic nerve morphology def: "any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MESH:A08.800.800.720.450.760] is_a: MP:0001077 ! abnormal spinal nerve morphology [Term] id: MP:0002652 name: thin myocardium def: "reduced thickness of the cardiac muscle layer" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "thin myocardial wall" RELATED [] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0002653 name: abnormal ependyma morphology def: "any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord" [ISBN:0-683-40008-8, MGI:il] synonym: "abnormal ependyma" EXACT [] synonym: "ependyma dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002654 name: spongiform encephalopathy def: "a neurodegenerative state characterized by the appearance of large vacuolated areas in the brain cells, resembling a sponge" [MGI:csmith] synonym: "spongiform degeneration" EXACT [] is_a: MP:0002229 ! neurodegeneration [Term] id: MP:0002655 name: abnormal keratinocyte morphology def: "any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [ISBN:0-683-40008-8] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0002656 name: abnormal keratinocyte differentiation def: "developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [ISBN:0-683-40008-8] is_a: MP:0002655 ! abnormal keratinocyte morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0002657 name: chondrodystrophy def: "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [MGI:il] synonym: "chondrodysplasia" EXACT [] is_a: MP:0000164 ! abnormal cartilage development is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0002658 name: abnormal liver regeneration def: "deviation from the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [MGI:il] synonym: "abnormal hepatic regeneration" EXACT [] is_a: MP:0000609 ! abnormal liver physiology [Term] id: MP:0002659 name: pituitary gland hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the pituitary gland" [ISBN:0-683-40008-8, MGI:pvb] synonym: "hypoplastic pituitary" RELATED [] synonym: "pituitary hypoplasia" RELATED [] is_a: MP:0005361 ! small pituitary gland [Term] id: MP:0002660 name: abnormal caput epididymis morphology def: "any structural anomaly of the head of the epididymis" [ISBN:0-683-40008-8] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0002661 name: abnormal corpus epididymis morphology def: "any structural anomaly of the body of the epididymis" [ISBN:0-683-40008-8] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0002662 name: abnormal cauda epididymis morphology def: "any structural anomaly of the tail of the epididymis" [ISBN:0-683-40008-8] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0002663 name: failure to form blastocele def: "developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal cavitation" EXACT [] synonym: "absent blastocoel cavity" EXACT [] synonym: "absent blastocoele" EXACT [] synonym: "failure to cavitate" EXACT [] synonym: "failure to form blastocyst cavity" EXACT [] is_a: MP:0004963 ! abnormal blastocoele morphology [Term] id: MP:0002664 name: decreased circulating adrenocorticotropin level def: "decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex" [ISBN:0-683-40008-8] synonym: "decreased serum levels of ACTH" EXACT [] synonym: "decreased serum levels of adrenocorticotropic hormone" EXACT [] synonym: "decreased serum levels of adrenocorticotropin" EXACT [] synonym: "decreased serum levels of adrenotropic hormone" EXACT [] synonym: "decreased serum levels of adrenotropin" EXACT [] synonym: "reduced circulating adrenocorticotropin level" EXACT [] is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005128 ! decreased adrenocorticotropin level [Term] id: MP:0002665 name: decreased circulating corticosterone level def: "less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [ISBN:0-683-40008-8] synonym: "decreased serum levels of corticosterone" EXACT [] synonym: "reduced circulating corticosterone level" EXACT [] is_a: MP:0003368 ! decreased circulating glucocorticoid level is_a: MP:0005345 ! abnormal circulating corticosterone level [Term] id: MP:0002666 name: increased circulating aldosterone level def: "increased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule" [ISBN:0-683-40008-8, MGI:pvb] synonym: "alsosteronism" EXACT [] synonym: "elevated serum levels of aldosterone" NARROW [] synonym: "hyperaldosteronism" EXACT [] synonym: "increased plasma aldosterone" NARROW [] is_a: MP:0003373 ! increased circulating mineralocorticoid level is_a: MP:0005346 ! abnormal circulating aldosterone level [Term] id: MP:0002667 name: decreased circulating aldosterone level def: "decreased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule" [ISBN:0-683-40008-8, MGI:pvb] synonym: "decreased serum aldosterone" NARROW [] synonym: "decreased serum levels of aldosterone" NARROW [] synonym: "hypoaldosteronism" EXACT [] synonym: "reduced circulating aldosterone level" EXACT [] is_a: MP:0003374 ! decreased circulating mineralocorticoid level is_a: MP:0005346 ! abnormal circulating aldosterone level [Term] id: MP:0002668 name: abnormal circulating potassium level def: "anomalous concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [MGI:cwg] synonym: "abnormal potassium level" EXACT [] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0002669 name: abnormal scrotum morphology def: "any structural anomaly of the external sac of skin that encloses the testes" [ISBN:0-683-40008-8] synonym: "scrotum dysplasia" EXACT [] is_a: MP:0009199 ! abnormal external male genitalia morphology [Term] id: MP:0002670 name: absent scrotum def: "missing the external sac of skin that encloses the testes" [ISBN:0-683-40008-8, MGI:pvb] synonym: "absence of scrotum" EXACT [] is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0002671 name: belted def: "the appearance of a stripe of white fur around the circumference of the abdomen" [MGI:csmith] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0002672 name: abnormal branchial arch artery morphology alt_id: MP:0001617 alt_id: MP:0001618 def: "any structural anomaly of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [MGI:cwg] comment: Do not confuse embryonic aortic arches with the adult aortic arch (MP:0004113). synonym: "abnormal aortic arches" EXACT [] synonym: "abnormal branchial arch arteries" EXACT [] synonym: "abnormal embryonic aortic arch arteries " RELATED [] synonym: "abnormal embryonic aortic arch artery morphology" EXACT [] synonym: "abnormal PAA" EXACT [] synonym: "abnormal pharyngeal arch artery morphology" EXACT [] is_a: MP:0000259 ! abnormal vascular development is_a: MP:0002884 ! abnormal branchial arch morphology is_a: MP:0003410 ! abnormal artery development [Term] id: MP:0002673 name: abnormal sperm number def: "increased or decreased numbers of spermatozoa" [MGI:pvb] synonym: "abnormal sperm count" EXACT [] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0002674 name: abnormal sperm motility def: "anomalies in the mobility of the spermatozoa" [ISBN:0-683-40008-8] is_a: MP:0004543 ! abnormal sperm physiology [Term] id: MP:0002675 name: asthenozoospermia def: "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [ISBN:0-683-40008-8, MGI:pvb] synonym: "asthenospermia" EXACT [] synonym: "impaired sperm motility" EXACT [] is_a: MP:0002674 ! abnormal sperm motility [Term] id: MP:0002676 name: uterus hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the uterus" [MGI:csmith] synonym: "hyperplastic uterus" EXACT [] synonym: "metra hyperplasia" EXACT [] synonym: "metral hyperplasia" EXACT [] synonym: "uterine hyperplasia" EXACT [] is_a: MP:0004906 ! enlarged uterus [Term] id: MP:0002678 name: increased follicle recruitment def: "greater frequency of the entry of arrested primordial follicles into the pool of growing follicles" [MGI:csmith] is_a: MP:0001130 ! abnormal ovarian folliculogenesis [Term] id: MP:0002679 name: abnormal corpus luteum morphology def: "any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture" [MGI:csmith] synonym: "abnormal corpora lutea" BROAD [] is_a: MP:0001126 ! abnormal ovary morphology [Term] id: MP:0002680 name: decreased corpora lutea number def: "fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle" [MGI:csmith] synonym: "decreased number of corpora lutea" EXACT [] synonym: "reduced corpora lutea number" EXACT [] is_a: MP:0002679 ! abnormal corpus luteum morphology [Term] id: MP:0002681 name: increased corpora lutea number def: "greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle" [MGI:csmith] synonym: "increased number of corpora lutea" EXACT [] is_a: MP:0002679 ! abnormal corpus luteum morphology [Term] id: MP:0002682 name: decreased mature ovarian follicle number def: "fewer than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle" [ISBN:0-683-40008-8, MGI:anna] synonym: "decreased number of mature ovarian follicles" EXACT [] synonym: "reduced mature ovarian follicle number" EXACT [] synonym: "reduced number of mature ovarian follicles" EXACT [] is_a: MP:0008871 ! abnormal ovarian follicle number is_a: MP:0009364 ! abnormal mature ovarian follicle morphology [Term] id: MP:0002683 name: delayed fertility def: "ability to produce live offspring occurring at a later than expected age" [MGI:llw2] is_a: MP:0001937 ! abnormal sexual maturation is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0002685 name: abnormal spermatogonia proliferation def: "anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis" [J:62271, MGI:pvb] synonym: "abnormal proliferation of spermatogonia" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0001156 ! abnormal spermatogenesis [Term] id: MP:0002686 name: globozoospermia def: "any structural anomaly of the acrosome resulting in a round sperm head" [J:57312, MGI:pvb] synonym: "acrosome malformation of spermatozoa" EXACT [] synonym: "round sperm heads" EXACT [] synonym: "round-headed spermatozoa" EXACT [] is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0008898 ! abnormal acrosome morphology [Term] id: MP:0002687 name: oligozoospermia alt_id: MP:0002684 def: "reduced concentration of spermatozoa in the seminal fluid" [J:57312, MGI:pvb] synonym: "decreased sperm count" EXACT [] synonym: "oligospermia" EXACT [] synonym: "reduced sperm count" EXACT [] synonym: "reduced sperm number" EXACT [] is_a: MP:0001124 ! abnormal gametes is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0002673 ! abnormal sperm number is_a: MP:0004901 ! decreased male germ cell number [Term] id: MP:0002688 name: increased sensitivity to addictive substance def: "OBSOLETE. decreased threshold to obtain a physiological or behavioral response to an addictive substance" [MGI:csmith] synonym: "decreased resistance to addictive substance" EXACT [] synonym: "increased susceptibility to addictive substance" EXACT [] is_obsolete: true [Term] id: MP:0002689 name: abnormal molar morphology def: "any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface" [MESH:A14.549.167.860.525, MGI:il] subset: Sanger_Terms synonym: "abnormal molars" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0002690 name: akinesia def: "acquired absence of voluntary movement or loss of the ability to move such as temporary or prolonged paralysis or freezing in place" [MGI:cml] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0002691 name: small stomach def: "reduced size of the stomach" [MGI:dlb] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0002693 name: abnormal pancreas physiology def: "any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [ISBN:0-683-40008-8] synonym: "abnormal pancreas function" EXACT [] is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0002694 name: abnormal pancreas secretion def: "anomaly in the production and/or release of biologically active substances from pancreatic tissue" [MGI:csmith] is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0002695 name: abnormal circulating glucagon level def: "anomaly in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes" [MESH:D06.472.699.587.469.500] synonym: "abnormal circulating HG-factor level" EXACT [] synonym: "abnormal glucagon level" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0002696 name: decreased circulating glucagon level def: "reduction in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes" [MESH:D06.472.699.587.469.500] synonym: "decreased plasma glucagon levels" EXACT [] synonym: "reduced circulating glucagon level" EXACT [] is_a: MP:0002695 ! abnormal circulating glucagon level [Term] id: MP:0002697 name: abnormal eye size def: "deviation from the average range of eye size for a given organism" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "eye size abnormalities" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0002698 name: abnormal sclera morphology def: "any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea" [MESH:A09.371.784] synonym: "abnormal sclerotic coat morphology" EXACT [] synonym: "abnormal sclerotica morphology" EXACT [] synonym: "abnormal tunica albuginea oculi morphology" EXACT [] synonym: "abnormal tunica sclerotica morphology" EXACT [] synonym: "sclera dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0002699 name: abnormal vitreous body morphology def: "any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MESH:A09.371.943] subset: Sanger_Terms synonym: "abnormal corpus vitreum" EXACT [] synonym: "abnormal hyaloid body" EXACT [] synonym: "abnormal vitreal body" EXACT [] synonym: "abnormal vitreum" EXACT [] synonym: "vitreous abnormalities" EXACT [] synonym: "vitreous body abnormalities" EXACT [] is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0002700 name: opacity of vitreous body alt_id: MP:0001291 def: "the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light" [MGI:llw2] synonym: "opacity of corpus vitreum" EXACT [] synonym: "opacity of eyeball" EXACT [] synonym: "opacity of hyaloid body" EXACT [] synonym: "opacity of vitreal body" EXACT [] synonym: "opacity of vitreum" EXACT [] synonym: "vitreous body opacity" EXACT [] is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0002702 name: decreased circulating free fatty acid level def: "lower than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased circulating non-esterified fatty acids level" EXACT [] synonym: "decreased FFA level" EXACT [] synonym: "decreased free fatty acids level" RELATED [] synonym: "decreased NEFA level" RELATED [] synonym: "decreased UFA level" EXACT [] synonym: "decreased unesterified fatty acids level" EXACT [] synonym: "lowered serum free fatty acid levels" NARROW [] synonym: "reduced circulating free fatty acid level" EXACT [] synonym: "reduced circulating non-esterified fatty acids level" EXACT [] synonym: "reduced FFA level" EXACT [] synonym: "reduced free fatty acids level" RELATED [] synonym: "reduced NEFA level" RELATED [] synonym: "reduced UFA level" EXACT [] synonym: "reduced unesterified fatty acids level" EXACT [] is_a: MP:0001553 ! abnormal circulating free fatty acids level is_a: MP:0005282 ! decreased fatty acid level [Term] id: MP:0002703 name: abnormal renal tubule morphology def: "any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule" [MGI:csmith] synonym: "abnormal kidney tubule morphology" EXACT [] synonym: "abnormal renal tubules morphology" EXACT [] synonym: "kidney tubule dysplasia" EXACT [] synonym: "renal tubule dysplasia" EXACT [] is_a: MP:0003881 ! abnormal nephron morphology [Term] id: MP:0002704 name: tubular nephritis def: "inflammation of the renal tubules" [ISBN:0-683-40008-8] is_a: MP:0001859 ! kidney inflammation is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0002705 name: dilated renal tubules def: "stretched or widened aperture of the luminal space of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule" [MGI:csmith] synonym: "renal tubule dilation" EXACT [] synonym: "renal tubule ectasia" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0002706 name: abnormal kidney size def: "anomalous physical bulk one or both of the organs responsible for urine secretion" [MGI:cwg] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0002707 name: abnormal kidney weight def: "anomaly in the average weight of the organs responsible for urine secretion" [MGI:cwg] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002708 name: nephrolithiasis alt_id: MP:0002709 def: "calculi occurring in the kidney" [MESH:C12.777.419.600] synonym: "kidney calcium calculi" EXACT [] synonym: "kidney stones" EXACT [] synonym: "renal calculi" RELATED [] is_a: MP:0002135 ! abnormal kidney morphology is_a: MP:0002136 ! abnormal kidney physiology is_a: MP:0005360 ! urolithiasis [Term] id: MP:0002710 name: increased glucagon secretion def: "greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes" [MESH:D06.472.699.587.469.500] synonym: "elevated glucagon secretion" EXACT [] is_a: MP:0003565 ! abnormal glucagon secretion [Term] id: MP:0002711 name: decreased glucagon secretion def: "reduction in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes" [MESH:D06.472.699.587.469.500] synonym: "reduced glucagon secretion" EXACT [] is_a: MP:0003565 ! abnormal glucagon secretion [Term] id: MP:0002712 name: increased circulating glucagon level def: "increase in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes" [MESH:D06.472.699.587.469.500] synonym: "increased plasma glucagon level" EXACT [] is_a: MP:0002695 ! abnormal circulating glucagon level [Term] id: MP:0002713 name: abnormal glycogen catabolism def: "inability to breakdown glycogen; or reduced or increased rate of glycogen breakdown" [MGI:csmith] synonym: "abnormal glucogenesis" EXACT [] synonym: "abnormal glycogenolysis" EXACT [] is_a: MP:0005438 ! abnormal glycogen homeostasis [Term] id: MP:0002714 name: increased glycogen catabolism rate def: "increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body" [MGI:cwg] synonym: "elevated glycogen catabolism rate" RELATED [] synonym: "increased glucogenesis rate" RELATED [] synonym: "increased glycogenolysis" EXACT [] is_a: MP:0002713 ! abnormal glycogen catabolism [Term] id: MP:0002715 name: decreased glycogen catabolism rate def: "decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body" [MGI:cwg] synonym: "decreased glucogenesis rate" RELATED [] synonym: "decreased glycogenolysis" EXACT [] synonym: "reduced glycogen catabolism rate" RELATED [] is_a: MP:0002713 ! abnormal glycogen catabolism [Term] id: MP:0002716 name: small preputial glands def: "reduced size of the sebaceous glands of the corona and neck of the glans penis" [ISBN:0-683-40008-8, MGI:il] is_a: MP:0002717 ! abnormal preputial gland morphology [Term] id: MP:0002717 name: abnormal preputial gland morphology def: "any structural anomaly of the sebaceous glands of the corona and neck of the glans penis" [ISBN:0-683-40008-8] synonym: "abnormal preputial glands" EXACT [] synonym: "abnormal Tyson's glands" RELATED [] synonym: "preputial gland dysplasia" EXACT [] is_a: MP:0000647 ! abnormal sebaceous gland morphology is_a: MP:0000653 ! abnormal sex gland morphology is_a: MP:0009102 ! abnormal glans penis morphology [Term] id: MP:0002718 name: abnormal inner cell mass morphology def: "any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues" [ISBN:0-683-40008-8, MGI:pvb] synonym: "abnormal embryoblast" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development is_a: MP:0004957 ! abnormal blastocyst morphology [Term] id: MP:0002720 name: urogenital system: dysmorphology alt_id: MP:0002719 def: "OBSOLETE. abnormal development of the urogenital system resulting in morphological abnormality" [MGI:csmith] synonym: "genitourinary abnormalities" EXACT [] synonym: "genitourinary system: dysmorphology" EXACT [] synonym: "urogenital system abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0002721 name: abnormal urogenital system physiology def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002722 name: abnormal immune system organ morphology alt_id: MP:0000686 def: "any structural anomaly of lymphoid organs" [MGI:cwg] synonym: "abnormal lymph organ" EXACT [] synonym: "immune system organ dysplasia" EXACT [] synonym: "immune system: organ abnormalities" EXACT [] is_a: MP:0000685 ! abnormal immune system morphology [Term] id: MP:0002723 name: abnormal immune serum protein physiology def: "abnormal concentration or function of circulating immune proteins" [MGI:cwg] synonym: "immune system: serum protein abnormalities" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002724 name: enhanced wound healing def: "increased ability to self-repair and close wounds" [J:42016, MGI:dlb] synonym: "improved wound healing" EXACT [] is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0002725 name: abnormal vein morphology def: "any structural anomaly of the blood vessels that carry blood towards the heart" [ISBN:0-683-40008-8] synonym: "venous abnormalities" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0002726 name: abnormal pulmonary vein morphology alt_id: Fyler:3000 def: "any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart" [MGI:cwg] subset: CvDC_Terms synonym: "abnormal pulmonary veins" EXACT [] is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0002727 name: decreased circulating insulin level def: "less than normal levels of insulin in the blood" [ISBN:0-683-40008-8, MGI:dlb] subset: Sanger_Terms synonym: "hypoinsulinemia" EXACT [] synonym: "reduced circulating insulin level" EXACT [] is_a: MP:0001560 ! abnormal circulating insulin level [Term] id: MP:0002728 name: absent tibia def: "missing the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8, MGI:cml] synonym: "absence of tibia" EXACT [] is_a: MP:0000558 ! abnormal tibia morphology [Term] id: MP:0002729 name: abnormal inner ear canal morphology def: "any structural anomaly of the tubular ducts of the inner ear" [ISBN:0-683-40008-8] synonym: "abnormal canal morphology" RELATED [] synonym: "abnormal canals" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0002730 name: head shaking def: "compulsive movement of the head in the horizontal plane" [J:274, MGI:pvb] subset: Europhenome_Terms is_a: MP:0000436 ! abnormal head movements is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0002731 name: megacolon def: "extreme dilation of the colon" [ISBN:0-683-40008-8] synonym: "giant colon" EXACT [] is_a: MP:0000495 ! abnormal colon morphology [Term] id: MP:0002732 name: trichoepithelioma def: "benign hair follicle tumors that lack mature hair follicles, derived from basal cells of the hair follicles enclosing small keratin cysts" [MGI:il] is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002733 name: abnormal thermal nociception alt_id: MP:0001972 def: "abnormal capability to sense pain elicited by thermal stimulation" [MGI:pvb] synonym: "abnormal response to temperature" EXACT [] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002734 name: abnormal mechanical nociception alt_id: MP:0002737 def: "abnormal capability to sense pain elicited by mechanical stimulation" [MGI:pvb] synonym: "mechanical nociception abnormalities" EXACT [] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002735 name: abnormal chemical nociception def: "abnormal capability to sense pain elicited by chemical stimulation" [MGI:pvb] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002736 name: abnormal nociception after inflammation def: "changes in pain thresholds after inflammation" [MGI:pvb] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002738 name: hyperresponsive to tactile stimuli def: "exaggerated reflex action normally induced by touch or pain" [MGI:csmith] synonym: "hypesthesia" RELATED [] synonym: "tactile hyperalgesia" EXACT [] is_a: MP:0005316 ! abnormal response to tactile stimuli is_a: MP:0005407 ! hyperalgesia [Term] id: MP:0002739 name: abnormal olfactory bulb development def: "abnormality in the progression of the formation of the olfactory bulb" [J:65380, MGI:pvb] is_a: MP:0000819 ! abnormal olfactory bulb morphology is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0002740 name: heart hypoplasia def: "underdevelopment or reduced size of the heart, usually due to a reduced number of cells" [MGI:pvb] synonym: "hypoplastic heart" EXACT [] synonym: "myocardial hypoplasia" EXACT [] is_a: MP:0002188 ! small heart [Term] id: MP:0002741 name: small olfactory bulb def: "reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [J:79871] synonym: "decreased olfactory bulb size" EXACT [] synonym: "reduced olfactory bulb size" EXACT [] is_a: MP:0000819 ! abnormal olfactory bulb morphology [Term] id: MP:0002742 name: enlarged submandibular lymph nodes def: "increased size of the submandibular lymph nodes" [J:69405, MGI:pvb] is_a: MP:0009627 ! abnormal submandibular lymph node morphology [Term] id: MP:0002743 name: glomerulonephritis def: "inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response; often characterized by decreased production of urine, the presence of blood and protein in the urine, and/or by edema; often leads to kidney failure" [ISBN:0-683-40008-8, MGI:csmith] synonym: "glomerular nephritis" EXACT [] synonym: "GN" EXACT [] is_a: MP:0000523 ! cortical renal glomerulopathies is_a: MP:0001859 ! kidney inflammation [Term] id: MP:0002745 name: abnormal atrioventricular valve morphology def: "any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles" [MGI:pvb] subset: CvDC_Terms synonym: "abnormal atrioventricular valves morphology" EXACT [] synonym: "atrioventricular valve dysplasia" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology is_a: MP:0010435 ! abnormal heart atrium and ventricle connection [Term] id: MP:0002746 name: abnormal semilunar valve morphology def: "any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [MGI:pvb] synonym: "abnormal outflow tract valves morphology" EXACT [] synonym: "abnormal semilunar valves morphology" EXACT [] synonym: "semilunar valve dysplasia" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology [Term] id: MP:0002747 name: abnormal aortic valve morphology alt_id: Fyler:1400 alt_id: Fyler:1408 def: "any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus)" [ISBN:0-683-40008-8, MESH:A07.541.510.110] subset: CvDC_Terms synonym: "aortic valvar abnormality" BROAD [] synonym: "aortic valve dysplasia" EXACT [] is_a: MP:0002746 ! abnormal semilunar valve morphology is_a: MP:0010429 ! abnormal heart left ventricle outflow tract morphology [Term] id: MP:0002748 name: abnormal pulmonary valve morphology alt_id: Fyler:1600 alt_id: Fyler:1602 def: "any structural anomaly of the valve between the right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus)" [ISBN:0-683-40008-8, MESH:A07.541.510.738] subset: CvDC_Terms synonym: "abnormal pulmonic valve morphology" EXACT [] synonym: "dysplastic pulmonary valve" EXACT [] synonym: "pulmonary valvar abnormality" BROAD [] synonym: "pulmonary valve dysplasia" EXACT [] is_a: MP:0002746 ! abnormal semilunar valve morphology is_a: MP:0010428 ! abnormal heart right ventricle outflow tract morphology [Term] id: MP:0002750 name: exophthalmos alt_id: MP:0006196 def: "forward displacement, bulging, or protrusion of one or both eyeballs" [MGI:il] subset: Sanger_Terms synonym: "bulging eyes" EXACT [] synonym: "ocular proptosis" EXACT [] synonym: "proptosis" EXACT [] synonym: "protruding eyes" EXACT [] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0002751 name: abnormal autonomic nervous system morphology def: "any structural anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions" [MGI:anna, MGI:csmith] synonym: "autonomic nervous system abnormalities" BROAD [] synonym: "autonomic nervous system dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002752 name: abnormal somatic nervous system morphology def: "any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs)" [MGI:csmith] synonym: "somatic nervous system abnormalities" EXACT [] synonym: "somatic nervous system dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002753 name: dilated heart left ventricle alt_id: Fyler:1817 def: "the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:pvb] subset: CvDC_Terms synonym: "dilated left ventricle" EXACT [] synonym: "left ventricle dilation" EXACT [] synonym: "left ventricular dilation" EXACT [] is_a: MP:0003921 ! abnormal heart left ventricle morphology is_a: MP:0008022 ! dilated heart ventricle [Term] id: MP:0002754 name: dilated heart right ventricle alt_id: Fyler:1827 def: "the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:pvb] subset: CvDC_Terms synonym: "dilated right ventricle" EXACT [] synonym: "right ventricle dilation" EXACT [] synonym: "right ventricular dilation" EXACT [] is_a: MP:0008022 ! dilated heart ventricle is_a: MP:0010563 ! increased heart right ventricle size [Term] id: MP:0002756 name: decreased pyramidal neuron number def: "OBSOLETE. fewer than average number of projection neurons in the hippocampus" [MGI:cml] synonym: "decreased pyramidal cell number" EXACT [] synonym: "reduced number of pyramidal cells" EXACT [] synonym: "reduced pyramidal cell number" EXACT [] is_obsolete: true consider: MP:0009971 consider: MP:0009974 [Term] id: MP:0002757 name: decreased vertical activity alt_id: MP:0001420 def: "lesser than average time spent jumping or rearing" [J:82829, MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced activity in rearing test" EXACT [] synonym: "reduced activity in vertical open field test" EXACT [] synonym: "reduced rearing" EXACT [] synonym: "reduced reconnoitering behavior" EXACT [] synonym: "reduced vertical activity" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0002758 name: long tail def: "increased length of tail relative to average of a given strain" [MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0002759 name: abnormal caudal vertebrae morphology alt_id: MP:0000456 def: "any structural anomaly of the bony segments of the coccyx or tail" [MGI:pvb] comment: There are usually 27-30 caudal vertebrae present in rodents. synonym: "abnormal tail vertebrae morphology" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0002760 name: ectopic pyramidal neurons def: "OBSOLETE. abnormal position of one or more triangular shaped projection neurons in the hippocampus" [ISBN:0-683-40008-8] synonym: "ectopic pyramidal cells" EXACT [] synonym: "heterotopic pyramidal cells" EXACT [] is_obsolete: true consider: MP:0010011 consider: MP:0010012 [Term] id: MP:0002761 name: abnormal hippocampal mossy fiber morphology def: "absence or misprojection of axons of neuronal cells in the dentate gyrus" [J:4978, MESH:A08.186.211.464.405.200.500] synonym: "abnormal hippocampal mossy fibers" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0002762 name: ectopic cerebellar granule cells def: "granule cell body resides in a place other than the external or internal granule layer of the cerebellum" [J:4978] synonym: "ectopic granule cells" BROAD [] synonym: "ectopic granule neuron" BROAD [] synonym: "heterotopic granule cells" BROAD [] xref: CL:0001031 is_a: MP:0004098 ! abnormal cerebellar granule cell morphology [Term] id: MP:0002763 name: ectopic Bergmann glia cells def: "abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum" [ISBN:0-683-40008-8] synonym: "heterotopic Bergmann glia cells" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology is_a: MP:0010387 ! abnormal Bergmann glial cell morphology [Term] id: MP:0002764 name: short tibia def: "reduced length of the medial and larger bone of the lower leg" [ISBN:0-683-40008-8, MGI:pvb] subset: Europhenome_Terms is_a: MP:0000558 ! abnormal tibia morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0002765 name: short fibula def: "reduced length of the lateral and smaller of bone of the lower leg" [J:12736, MGI:pvb] is_a: MP:0002187 ! abnormal fibula morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0002766 name: situs inversus def: "lateral transposition or mirroring of the viscera of the thorax and abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other" [MESH:C16.131.810, PMID:16461029] subset: CvDC_Terms synonym: "situs inversus viscerum" EXACT [] synonym: "visceral inversion" EXACT [] xref: MPATH:720 is_a: MP:0004133 ! heterotaxia [Term] id: MP:0002767 name: situs ambiguus def: "an abnormality in which the thoracic and abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [PMID:18039396] subset: CvDC_Terms synonym: "situs ambiguous" RELATED [] xref: MPATH:711 is_a: MP:0004133 ! heterotaxia [Term] id: MP:0002768 name: small adrenal glands def: "reduced size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla" [ISBN:0-683-40008-8] synonym: "decreased adrenal gland size" EXACT [] synonym: "reduced adrenal gland size" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0002769 name: abnormal vas deferens morphology def: "any structural anomaly of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct" [ISBN:0-683-40008-8, MGI:pvb] synonym: "abnormal ductus deferens morphology" EXACT [] synonym: "vas deferens dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0002770 name: absent bulbourethral gland def: "missing gland in males that lie along the prostate gland that secrete a fluid component of the seminal fluid into the urethra" [J:78062, MGI:pvb] synonym: "absence of bulbourethral gland" EXACT [] synonym: "absent Cowper's gland" EXACT [] is_a: MP:0001169 ! abnormal bulbourethral gland morphology [Term] id: MP:0002771 name: absent prostate gland anterior lobe def: "absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles" [PMID:12645922, PMID:3308446] synonym: "absence of coagulating gland" EXACT [] synonym: "absent AP" EXACT [] synonym: "absent coagulating gland" EXACT [] is_a: MP:0001163 ! abnormal prostate gland anterior lobe morphology [Term] id: MP:0002772 name: brachypodia def: "abnormally short feet" [J:31930, MGI:il] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0002773 name: decreased circulating luteinizing hormone level def: "lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary" [MESH:D06.472.699.322.576.463, MGI:pvb] synonym: "decreased serum levels of LH" EXACT [] synonym: "decreased serum levels of luteinizing hormone" EXACT [] synonym: "decreased serum levels of lutropin" EXACT [] synonym: "reduced circulating luteinizing hormone level" EXACT [] is_a: MP:0003363 ! decreased circulating gonadotropin level is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005132 ! decreased luteinizing hormone level [Term] id: MP:0002774 name: small prostate gland def: "reduced size of the gland in males that secretes part of the seminiferous fluid" [MGI:pvb] is_a: MP:0004959 ! abnormal prostate gland size [Term] id: MP:0002776 name: Sertoli cell hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:71710, MGI:pvb] synonym: "increased sertoli cell number" EXACT [] is_a: MP:0001149 ! testicular hyperplasia is_a: MP:0004109 ! abnormal Sertoli cell development [Term] id: MP:0002777 name: absent ovarian follicles def: "lack of the sac-like structures in the ovaries that surround the ova" [J:42612, MGI:pvb] synonym: "absence of ovarian follicles" EXACT [] is_a: MP:0008871 ! abnormal ovarian follicle number [Term] id: MP:0002778 name: meroanencephaly def: "type of anencephaly in which the brain and cranium are present in rudimentary form" [ISBN:0-683-40008-8, MGI:il] is_a: MP:0001890 ! anencephaly [Term] id: MP:0002779 name: abnormal sex gland secretion def: "anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system" [MGI:csmith] is_a: MP:0005647 ! abnormal sex gland physiology [Term] id: MP:0002780 name: decreased circulating testosterone level def: "reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females" [ISBN:0-683-40008-8] synonym: "decreased serum levels of testosterone" NARROW [] synonym: "reduced circulating testosterone level" EXACT [] synonym: "reduced serum levels of testosterone" NARROW [] is_a: MP:0005180 ! abnormal circulating testosterone level [Term] id: MP:0002781 name: increased circulating testosterone level def: "greater than the normal blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females" [ISBN:0-683-40008-8] synonym: "elevated serum levels of testosterone" NARROW [] synonym: "increased serum levels of testosterone" NARROW [] is_a: MP:0005180 ! abnormal circulating testosterone level [Term] id: MP:0002782 name: abnormal testes secretion def: "anomaly in the production and/or release of hormones from testicular tissue" [MGI:csmith] synonym: "abnormal testicular secretion" EXACT [] is_a: MP:0002779 ! abnormal sex gland secretion is_a: MP:0004884 ! abnormal testis physiology [Term] id: MP:0002783 name: abnormal ovarian secretion def: "anomaly in the production and/or release of hormones from ovarian tissue" [MGI:csmith] is_a: MP:0002779 ! abnormal sex gland secretion is_a: MP:0003507 ! abnormal ovary physiology [Term] id: MP:0002784 name: abnormal Sertoli cell morphology def: "any structural anomaly of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, MGI:pvb] synonym: "abnormal Sertoli cells" EXACT [] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0002785 name: absent Leydig cells def: "lack of the interstitial cells of the seminiferous tubules that secrete testosterone" [J:65900, MGI:pvb] synonym: "absence of Leydig cells" EXACT [] is_a: MP:0002786 ! abnormal Leydig cell morphology [Term] id: MP:0002786 name: abnormal Leydig cell morphology def: "any structural anomaly of the interstitial cells of the seminiferous tubules that secrete testosterone" [MGI:pvb] synonym: "abnormal Leydig cells" BROAD [] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0002787 name: pseudohermaphroditism def: "unambiguous gonadal sex (i.e. possesses either testes or ovaries, consistent with chromosomal sex) but has ambiguous secondary sexual characteristics" [MGI:llw2, MGI:pvb] synonym: "false hermaphroditism" EXACT [] is_a: MP:0002212 ! abnormal secondary sex determination [Term] id: MP:0002788 name: female pseudohermaphroditism def: "pseudohermaphroditism in which the gonads are female (ovaries) and the karyotype is XX but the secondary sex characteristics are male-like or ambiguous" [MGI:llw2, MGI:pvb] is_a: MP:0002787 ! pseudohermaphroditism [Term] id: MP:0002789 name: male pseudohermaphroditism def: "pseudohermaphroditism in which the gonads are male (testes) and the karyotype is XY but the secondary sex characteristics are female-like or ambiguous" [MGI:llw2, MGI:pvb] is_a: MP:0002787 ! pseudohermaphroditism [Term] id: MP:0002790 name: decreased circulating follicle stimulating hormone level def: "less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis" [ISBN:0-683-40008-8] synonym: "decreased serum levels of follicle stimulating hormone" EXACT [] synonym: "decreased serum levels of follitropin" EXACT [] synonym: "decreased serum levels of FSH" EXACT [] synonym: "decreased serum levels of gametokinetic hormone" EXACT [] synonym: "reduced circulating follicle stimulating hormone level" EXACT [] is_a: MP:0003363 ! decreased circulating gonadotropin level is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005130 ! decreased follicle stimulating hormone level [Term] id: MP:0002791 name: steatorrhea def: "passage of large amounts of fat in the feces due to the inability to digest and absorb it" [ISBN:0-683-40008-8] synonym: "fat indigestion" BROAD [] synonym: "stearrhea" EXACT [] is_a: MP:0003868 ! abnormal feces composition [Term] id: MP:0002792 name: abnormal retinal vasculature morphology alt_id: MP:0006189 def: "any anomaly of the structure or arrangement of blood vessels supplying the retina" [MGI:cml] subset: Sanger_Terms synonym: "abnormal retina vasculature morphology" EXACT [] is_a: MP:0001325 ! abnormal retina morphology is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0002794 name: lenticonus def: "a conical bulging of the lens capsule and the underlying cortex of the eye" [ISBN:0-683-40008-8] is_a: MP:0001286 ! abnormal eye development is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0002795 name: dilated cardiomyopathy alt_id: Fyler:1843 def: "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "congestive cardiomyopathy" EXACT [] is_a: MP:0004937 ! dilated heart is_a: MP:0005330 ! cardiomyopathy [Term] id: MP:0002796 name: impaired skin barrier function def: "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641] is_a: MP:0001784 ! abnormal fluid regulation is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0002797 name: increased thigmotaxis def: "greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response" [J:56814, MGI:smb] is_a: MP:0001363 ! increased anxiety-related response [Term] id: MP:0002798 name: abnormal active avoidance behavior def: "anomaly in the ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment" [MGI:CFG] synonym: "active avoidance anomalies" EXACT [] is_a: MP:0001462 ! abnormal avoidance learning behavior [Term] id: MP:0002799 name: abnormal passive avoidance behavior def: "anomaly in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency" [MGI:CFG] synonym: "abnormal inhibitory avoidance behavior" EXACT [] synonym: "passive avoidance anomalies" EXACT [] is_a: MP:0001462 ! abnormal avoidance learning behavior [Term] id: MP:0002800 name: abnormal short term object recognition memory def: "anomaly in the short-term memory for objects is established during the first few minutes after training" [MGI:CFG] synonym: "abnormal short-term object recognition memory" EXACT [] synonym: "short-term recognition memory abnormalities" EXACT [] is_a: MP:0001458 ! abnormal object recognition memory is_a: MP:0001468 ! abnormal temporal memory [Term] id: MP:0002801 name: abnormal long term object recognition memory def: "anomaly in long-term memory for objects that is consolidated over hours and days after training" [MGI:CFG] synonym: "abnormal long-term object recognition memory" EXACT [] synonym: "long-term recognition memory abnormalities" EXACT [] is_a: MP:0001458 ! abnormal object recognition memory is_a: MP:0001468 ! abnormal temporal memory [Term] id: MP:0002802 name: abnormal discrimination learning def: "anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus" [MGI:CFG] synonym: "discrimination learning abnormalities" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0002803 name: abnormal operant conditional behavior def: "anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food" [MGI:CFG] synonym: "operant conditional abnormalities" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0002804 name: abnormal motor learning def: "anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [MGI:CFG] synonym: "motor learning abnormalities" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0002805 name: abnormal conditioned taste aversion behavior def: "anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness" [MGI:CFG] synonym: "conditioned taste aversion anomalies" EXACT [] is_a: MP:0001462 ! abnormal avoidance learning behavior [Term] id: MP:0002806 name: abnormal conditioned emotional response def: "anomaly in an emotional response that has been acquired by conditioning" [MGI:CFG] synonym: "conditioned emotional response anomalies" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0002807 name: abnormal eye blink conditioning behavior def: "anomaly in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an air puff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli" [MGI:CFG] synonym: "eye blink conditioning anomalies" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0002808 name: abnormal barbering behavior def: "anomaly in the behavior of plucking of fur/hair or whiskers/vibrissae from other individuals of a cohort (hetero-barbering) or oneself (self-barbering); it is recognized as patches of unevenly chopped hair and the underlying skin is seldom inflamed" [ISBN:0-471-31639-3, PMID:16236465] comment: This is a rodent specific behavior. Whisker trimming and barbering are either normal or abnormal depending on the mouse strain. Barbering is particularly common in C57BL/6 and A2G but nearly unseen in other strains. This term should always be used in relation to the control and strain should be specified. synonym: "Dalila effect" RELATED [] synonym: "hair biting" EXACT [] synonym: "hair pulling" EXACT [] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0002809 name: increased spinal cord size def: "larger appearance of the spinal cord" [J:83935] synonym: "enlarged spinal cord size" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0002810 name: microcytic anemia def: "a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin synthesis failure or insufficiency" [ISBN:0-683-40008-8] is_a: MP:0001577 ! anemia [Term] id: MP:0002811 name: macrocytic anemia def: "deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal; most commonly due to megaloblastic anemia, or a deficiency of either vitamin B12 or folic acid" [ISBN:0-683-40008-8] is_a: MP:0001577 ! anemia [Term] id: MP:0002812 name: spherocytosis def: "the presence of sphere-shaped erythrocytes in the circulating blood" [ISBN:0-683-40008-8] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002813 name: microcytosis def: "the presence of unusually small erythrocytes in the circulating blood" [ISBN:0-683-40008-8] synonym: "microcythemia" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002814 name: hyperchromasia def: "increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin" [ISBN:0-683-40008-8] synonym: "hyperchromatism" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002816 name: colitis def: "local accumulation of fluid, plasma proteins, and leukocytes in the colon region of the large intestine" [ISBN:0-683-40008-8] is_a: MP:0003304 ! large intestinal inflammation [Term] id: MP:0002817 name: abnormal tooth mineralization def: "abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum" [MESH:G07.700.320.186.710] synonym: "abnormal tooth calcification" NARROW [] synonym: "tooth mineralization defects" EXACT [] is_a: MP:0000116 ! abnormal tooth development is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0002818 name: abnormal dentin morphology def: "any structural anomaly in the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root" [MESH:A14.549.167.900.280] synonym: "abnormal dentin" BROAD [] synonym: "dentin abnormalities" BROAD [] synonym: "dentine abnormalities" BROAD [] is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0002819 name: abnormal pulp cavity morphology def: "any structural anomaly of the central hollow space of a tooth" [ISBN:0-683-40008-8] synonym: "abnormal pulp cavity" EXACT [] synonym: "pulp cavity abnormalities" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0002820 name: abnormal premaxilla morphology def: "any structural anomaly of the anterior and inner portion of the maxilla" [ISBN:0-683-40008-8] synonym: "abnormal incisive bone morphology" EXACT [] synonym: "abnormal incisor bone morphology" EXACT [] synonym: "abnormal intermaxillary bone morphology" EXACT [] synonym: "abnormal premaxilla" BROAD [] synonym: "premaxilla dysplasia" BROAD [] is_a: MP:0000455 ! abnormal maxilla morphology [Term] id: MP:0002822 name: catalepsy def: "a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions" [ISBN:0-683-40008-8, MESH:C10.597.350.200] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002823 name: abnormal rib development def: "anomalous formation of the bones forming the bony wall of the chest" [J:84754, MGI:pvb] is_a: MP:0000150 ! abnormal rib morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0002824 name: abnormal chorioallantoic fusion def: "anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0001712 ! abnormal placenta development [Term] id: MP:0002825 name: abnormal notochord morphology def: "any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [ISBN:0-683-40008-8] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0002826 name: tonic seizures def: "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [MGI:hdene] is_a: MP:0000947 ! convulsive seizures [Term] id: MP:0002827 name: abnormal renal corpuscle morphology def: "any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron" [ISBN:0-683-40008-8] synonym: "abnormal cortical renal corpuscle morphology" EXACT [] synonym: "abnormal malphighian corpuscle morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0003881 ! abnormal nephron morphology [Term] id: MP:0002828 name: abnormal renal glomerular capsule morphology def: "any structural anomaly of the expanded beginning of a nephron that contains the glomerulus" [MGI:pvb] synonym: "abnormal Bowman's capsule" EXACT [] synonym: "abnormal capsula glomeruli" EXACT [] synonym: "abnormal malphighian capsule" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology [Term] id: MP:0002829 name: abnormal juxtaglomerular apparatus morphology def: "any structural anomaly of the complex of modified smooth muscle cells consisting of juxtaglomerular cells, extraglomerular mesangium lacis cells, the macula densa of the distal convoluted tubule, and granular epithelial peripolar cells; these cells are found in the walls of afferent and efferent glomerular arterioles" [MESH:A05.810.453.324.359.520, MGI:pvb] synonym: "juxtaglomerular complex morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology [Term] id: MP:0002830 name: gallstones def: "caliculi in the gallbladder or a bile duct; chemical composition of cholesterol, calcium carbonate or calcium bilirubinate" [ISBN:0-683-40008-8, MESH:C06.130.409.633, MGI:il] synonym: "biliary caliculi" EXACT [] synonym: "cholelithiasis" EXACT [] synonym: "gall stone" EXACT [] is_a: MP:0005083 ! abnormal biliary tract morphology [Term] id: MP:0002831 name: absent Peyer's patches def: "lymphoid tissue missing from the mucosa of the small intestine" [MESH:A10.549.600] synonym: "absence of Peyer's patches" EXACT [] is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0002832 name: coarse hair def: "hair shafts that are twisted or coiled and are of uneven thickness produce an overall rugged or uneven appearance and roughness to the touch" [MGI:csmith, MGI:llw2] subset: Sanger_Terms is_a: MP:0002074 ! abnormal hair texture [Term] id: MP:0002833 name: increased heart weight def: "greater than average weight of the heart compared to controls" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0000274 ! enlarged heart is_a: MP:0004857 ! abnormal heart weight [Term] id: MP:0002834 name: decreased heart weight def: "less than average weight of the heart compared to controls" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced heart weight" EXACT [] is_a: MP:0002188 ! small heart is_a: MP:0004857 ! abnormal heart weight [Term] id: MP:0002835 name: abnormal cranial suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head" [MESH:A02.835.232.781.200, MGI:pvb] synonym: "abnormal cranial sutures" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0002836 name: abnormal chorion morphology def: "any structural anomaly of the outermost extraembryonic membrane" [MESH:A10.615.284.473] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0002837 name: dystrophic cardiac calcinosis def: "a condition characterized by the localized deposition of calcium salts in the heart; often occurring in association with inflammation or atherosclerotic lesions and other pathological states" [ISBN:0-683-40008-8, MGI:csmith] synonym: "calcified heart" EXACT [] synonym: "dystrophic cardiac cutis" EXACT [] synonym: "heart calcification" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0002838 name: decreased susceptibility to dystrophic cardiac calcinosis def: "less likely to be stricken by dystrophic cardiac calcinosis" [MGI:il] synonym: "increased resistance to dystrophic cardiac calcinosis" EXACT [] is_a: MP:0002837 ! dystrophic cardiac calcinosis [Term] id: MP:0002839 name: increased susceptibility to dystrophic cardiac calcinosis def: "more likely to be stricken by dystrophic cardiac calcinosis" [MGI:il] synonym: "decreased resistance to dystrophic cardiac calcinosis" EXACT [] is_a: MP:0002837 ! dystrophic cardiac calcinosis [Term] id: MP:0002840 name: abnormal lens fiber morphology def: "any structural anomaly of the elongated cells of the crystalline lens of the eye" [ISBN:0-683-40008-8] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0002841 name: impaired skeletal muscle contractility alt_id: MP:0000739 def: "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8, MGI:pvb] synonym: "impaired striated muscle contractility" EXACT [] is_a: MP:0000738 ! impaired muscle contractility [Term] id: MP:0002842 name: increased systemic arterial blood pressure def: "increased tension of the blood within the systemic arteries" [MGI:csmith] synonym: "high blood pressure" EXACT [] is_a: MP:0000230 ! abnormal systemic arterial blood pressure [Term] id: MP:0002843 name: decreased systemic arterial blood pressure def: "decreased tension of the blood within the systemic arteries" [MGI:csmith] synonym: "low blood pressure" EXACT [] synonym: "reduced blood pressure" EXACT [] is_a: MP:0000230 ! abnormal systemic arterial blood pressure [Term] id: MP:0002844 name: aortic hypertrophy def: "increase in the bulk size of the aorta" [RGD:cur] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0002845 name: abnormal aortic weight def: "anomaly in the average weight of the aorta" [RGD:cur] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0002846 name: abnormal aortic mass def: "altered physical volume or bulk of the aorta" [RGD:cur] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0002847 name: abnormal renal glomerular filtration rate def: "deviation from the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time" [MESH:E01.370.390.400.300] synonym: "abnormal GFR" EXACT [] synonym: "abnormal kidney glomerular filtration rate" EXACT [] is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0002848 name: increased surface glomeruli def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0002849 name: abnormal saccharin consumption def: "subjects demonstrate interest in ingesting saccharine" [RGD:cur] is_a: MP:0001432 ! abnormal food preference [Term] id: MP:0002850 name: saccharin preference def: "subjects demonstrate predilection for saccharine over other offered substance" [RGD:cur] is_a: MP:0002849 ! abnormal saccharin consumption [Term] id: MP:0002851 name: abnormal circulating sulfate level def: "altered concentration of sulfate in the blood" [MGI:pvb] synonym: "abnormal sulfate level" EXACT [] is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0002852 name: hypersulfatemia def: "abnormally high concentration of sulfate in the circulating blood" [J:86561] is_a: MP:0002851 ! abnormal circulating sulfate level [Term] id: MP:0002853 name: hyposulfatemia def: "abnormally low concentration of sulfate in the circulating blood" [J:86561] is_a: MP:0002851 ! abnormal circulating sulfate level [Term] id: MP:0002855 name: abnormal cochlear ganglion morphology def: "any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [ISBN:0-683-40008-8] synonym: "abnormal auditory ganglion" EXACT [] synonym: "abnormal cochlear ganglia morphology" EXACT [] synonym: "abnormal Corti ganglion" EXACT [] synonym: "abnormal spiral ganglion of vestibulocochlear (VIII) nerve" EXACT [] synonym: "cranial ganglion VIII" BROAD [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0002856 name: abnormal vestibular ganglion morphology def: "any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration" [ISBN:0-683-40008-8] synonym: "abnormal Scarpa ganglion" EXACT [] synonym: "abnormal vestibular ganglia morphology" EXACT [] synonym: "abnormal vestibular ganglion of the vestibulocochlear (VIII) nerve" EXACT [] synonym: "cranial ganglion VIII" BROAD [] is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0002857 name: cochlear ganglion degeneration def: "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [ISBN:0-683-40008-8] synonym: "degeneration of cochlear ganglion" EXACT [] synonym: "degeneration of spiral ganglion" EXACT [] is_a: MP:0002855 ! abnormal cochlear ganglion morphology [Term] id: MP:0002858 name: abnormal posterior semicircular canal morphology def: "any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0002859 name: abnormal inner ear canal fusion def: "any structural anomaly or mistiming of the fusion of the canal primordia during development" [J:75619] synonym: "abnormal canal fusion" RELATED [] is_a: MP:0002729 ! abnormal inner ear canal morphology [Term] id: MP:0002861 name: abnormal tail bud morphology def: "anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development" [MGI:csmith] is_a: MP:0006281 ! abnormal tail development [Term] id: MP:0002862 name: altered righting response def: "altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position" [ISBN:0-683-40008-8, MGI:hdene] subset: Europhenome_Terms is_a: MP:0001516 ! abnormal motor coordination/ balance is_a: MP:0002980 ! abnormal postural reflex [Term] id: MP:0002863 name: improved righting response def: "faster ability or less amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position" [ISBN:0-683-40008-8] is_a: MP:0002862 ! altered righting response [Term] id: MP:0002864 name: abnormal ocular fundus morphology def: "any structural anomaly of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MESH:A09.371.729.313] subset: Europhenome_Terms synonym: "abnormal fundus oculus" EXACT [] is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0002865 name: increased growth rate def: "reduced length of time to reach a developmental stage or stages" [J:32208, MGI:il] is_a: MP:0001731 ! abnormal postnatal growth [Term] id: MP:0002866 name: abnormal glutamic acid decarboxylase level def: "aberrant concentration of this enzyme, which catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide; determines GABA levels in nervous tissues" [MESH:D08.811.520.224.125.250, RGD:cur] synonym: "abnormal GAD level" EXACT [] synonym: "abnormal glutamate decarboxylase level" EXACT [] is_a: MP:0005319 ! abnormal enzyme/ coenzyme level [Term] id: MP:0002867 name: increased glutamic acid decarboxylase level def: "greater than normal concentration of this enzyme, which catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide; determines GABA levels in nervous tissues" [MESH:D08.811.520.224.125.250, RGD:cur] synonym: "increased GAD level" EXACT [] synonym: "increased glutamate decarboxylase level" EXACT [] is_a: MP:0002866 ! abnormal glutamic acid decarboxylase level [Term] id: MP:0002868 name: decreased glutamic acid decarboxylase level def: "less than normal concentration of this enzyme, which catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide; determines GABA levels in nervous tissues" [MESH:D08.811.520.224.125.250, RGD:cur] synonym: "decreased GAD level" RELATED [] synonym: "decreased glutamate decarboxylase level" EXACT [] synonym: "reduced glutamate decarboxylase level" EXACT [] synonym: "reduced glutamic acid decarboxylase level" EXACT [] is_a: MP:0002866 ! abnormal glutamic acid decarboxylase level [Term] id: MP:0002869 name: increased anti-insulin autoantibody level def: "elevated level of antibodies to insulin present in the sera" [MGI:csmith] is_a: MP:0003725 ! increased autoantibody level [Term] id: MP:0002870 name: decreased anti-insulin autoantibody level def: "reduced level of antibodies to insulin present in the sera" [MGI:csmith] synonym: "reduced anti-insulin autoantibody level" EXACT [] is_a: MP:0003726 ! decreased autoantibody level [Term] id: MP:0002871 name: albuminuria alt_id: MP:0005539 def: "presence of excess albumin in the urine" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased albumin excretion" EXACT [] synonym: "increased urine albumin level" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0002872 name: polycythemia def: "an excess of circulating red blood cells" [ISBN:0-683-40008-8, MESH:C15.378.738] synonym: "increased circulating red blood cell number" EXACT [] synonym: "polycythaemia" EXACT [] is_a: MP:0003131 ! increased erythrocyte cell number [Term] id: MP:0002873 name: normal phenotype synonym: "fertile" RELATED [] synonym: "viable" RELATED [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0002874 name: decreased hemoglobin content def: "decrease in the total hemoglobin content in the circulating blood" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced hemoglobin content" EXACT [] is_a: MP:0005563 ! abnormal hemoglobin content [Term] id: MP:0002875 name: decreased erythrocyte cell number def: "reduced number of the cells that transport oxygen, red blood cells, per unit" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased definitive erythrocyte cell number" EXACT [] synonym: "decreased erythrocyte count" EXACT [] synonym: "decreased RBC count" EXACT [] synonym: "decreased red blood cell count" EXACT [] synonym: "erythrocytopenia" EXACT [] synonym: "erythropenia" EXACT [] synonym: "reduced definitive erythrocyte cell number" EXACT [] synonym: "reduced erythrocyte cell number" EXACT [] synonym: "reduced erythrocyte count" EXACT [] synonym: "reduced RBC count" EXACT [] synonym: "reduced red blood cell count" RELATED [] is_a: MP:0001586 ! abnormal erythrocyte cell number is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0002876 name: abnormal thyroid physiology def: "any functional anomaly of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body" [MESH:A06.407.900] synonym: "abnormal thyroid function" EXACT [] is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0002877 name: abnormal melanocyte morphology def: "any structural anomaly of the cells that produce pigment" [ISBN:0-683-40008-8] comment: Note that significant differences exist among populations of melanocytes that populate the cutaneous tissue compared to melanocytes that populate ocular, auditory, and internal body sites. Extracutaneous melanotcytes synthesize melanosomes and melanin only during a short interval after arriving in their target tissue, and they retain their melanosomes throughout the life of the organism instead of transferring to neighboring cells like dermal melanocytes. General morphology and ultrastructure of extracutaneous melanocytes vary and also differ from cutaneous melanocytes. subset: Sanger_Terms synonym: "abnormal melanocytes" EXACT [] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0002878 name: abnormal corticospinal tract morphology def: "any structural anomaly of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract" [ISBN:0-683-40008-8] synonym: "abnormal pyramidal tract morphology" EXACT [] is_a: MP:0000778 ! abnormal nervous system tract morphology [Term] id: MP:0002879 name: increased cellular sensitivity to X-ray irradiation def: "increased incidence of cell death following exposure to high levels of X-ray irradiation" [RGD:cur] synonym: "decreased cellular resistance to X-ray irradiation" EXACT [] synonym: "increased cellular susceptibility to X-ray irradiation" EXACT [] is_a: MP:0004227 ! increased cellular sensitivity to ionizing radiation [Term] id: MP:0002880 name: opisthotonus def: "a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward" [ISBN:0-683-40008-8] comment: Stedman's Medical Dictionary states that both the -us and the -os spellings are correct and synonymous. synonym: "opisthotonos" EXACT [] is_a: MP:0000743 ! muscle spasm is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0002881 name: long hair def: "increased average length of the coat hairs" [MGI:csmith] subset: Sanger_Terms is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0002882 name: abnormal neuron morphology def: "any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663] synonym: "neuron dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002883 name: chromatolysis def: "the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons" [MGI:dlb] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0002884 name: abnormal branchial arch morphology def: "any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears" [MGI:csmith] synonym: "abnormal branchial arches" EXACT [] synonym: "abnormal pharyngeal arches" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0002885 name: abnormal AMPA-mediated synaptic currents def: "change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors" [MGI:csmith] is_a: MP:0002886 ! abnormal glutamate-mediated receptor currents [Term] id: MP:0002886 name: abnormal glutamate-mediated receptor currents def: "change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors" [ISBN:0838580343] synonym: "abnormal glutamate receptor currents" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002887 name: decreased susceptibility to pharmacologically induced seizures def: "ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity" [MGI:csmith] synonym: "increased resistance to pharmacologically induced seizures" RELATED [] synonym: "resistance to pharmacologically induced seizures" EXACT [] is_a: MP:0000950 ! abnormal seizure response to pharmacological agent [Term] id: MP:0002888 name: abnormal NMDA-mediated synaptic currents def: "change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors" [MGI:csmith] is_a: MP:0002886 ! abnormal glutamate-mediated receptor currents [Term] id: MP:0002891 name: increased insulin sensitivity def: "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:cur] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0002892 name: decreased superior colliculus size def: "decreased size of the paired superior eminence of the mesencephalic tectum" [MGI:csmith] synonym: "decreased anterior quadrigeminal body size" EXACT [] synonym: "decreased corpora quadrigeminum posterius anterius size" EXACT [] synonym: "decreased size of superior colliculus" EXACT [] synonym: "reduced size of superior colliculus" EXACT [] synonym: "reduced superior colliculus size" EXACT [] is_a: MP:0000904 ! abnormal superior colliculus morphology [Term] id: MP:0002893 name: ketoaciduria def: "elevated amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the urine, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [ISBN:0-683-40008-8] synonym: "increased urine ketone body level" EXACT [] synonym: "ketonuria" EXACT [] is_a: MP:0010028 ! aciduria [Term] id: MP:0002894 name: abnormal otolith morphology def: "any structural anomaly of the crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane)" [ISBN:0-683-40008-8, MGI:llw2] synonym: "abnormal ear crystals" EXACT [] synonym: "abnormal otoconia" EXACT [] synonym: "abnormal otoliths" RELATED [] synonym: "abnormal statoconia" EXACT [] synonym: "abnormal statoliths" EXACT [] is_a: MP:0002895 ! abnormal otolithic membrane morphology [Term] id: MP:0002895 name: abnormal otolithic membrane morphology def: "any structural anomaly of the gelatinous membrane which is supported by the stereocilia of the hair cells of the maculae of the saccule and utriculus of the inner ear; adhering to its surface are numerous calciferous crystalline particles called otoliths (statoconia)" [MESH:A09.246.631.909.625.125.680, MGI:anna] synonym: "abnormal membrana statoconiorum" EXACT [] synonym: "abnormal octoconial membrane" EXACT [] synonym: "abnormal statoconial membrane" EXACT [] is_a: MP:0004427 ! abnormal vestibular labyrinth morphology [Term] id: MP:0002896 name: abnormal bone mineralization def: "defect in the process by which minerals are deposited into bone" [MGI:csmith] subset: Europhenome_Terms is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0002897 name: blotchy skin def: "regions of spotted discoloration appearing in the dermal tissue" [MGI:csmith] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0002898 name: absent cartilage def: "absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life" [ISBN:0-683-40008-8] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0002899 name: fatigue def: "easily exhausted due to mental or physical exertion" [ISBN:0-683-40008-8, MGI:hdene] synonym: "fatigability" EXACT [] synonym: "fatigable" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002900 name: abnormal urine phosphate level def: "any change in the amount of phosphate in the urine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0002901 name: increased urine phosphate level def: "an increase in phosphate amount in the urine" [ISBN:0-683-40008-8, MGI:pvb] synonym: "hyperphosphaturia" EXACT [] synonym: "increased urinary phosphate" EXACT [] is_a: MP:0002900 ! abnormal urine phosphate level [Term] id: MP:0002902 name: decreased urine phosphate level def: "reduced phosphate amount in the urine" [ISBN:0-683-40008-8, MGI:pvb] synonym: "hypophosphaturia" EXACT [] synonym: "reduced urine phosphate level" EXACT [] is_a: MP:0002900 ! abnormal urine phosphate level [Term] id: MP:0002903 name: abnormal circulating parathyroid hormone level def: "anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body" [MESH:D06.472.699.590, MGI:pvb] synonym: "abnormal circulating level of parathyroid hormone" EXACT [] synonym: "abnormal circulating PTH level" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0002904 name: increased circulating parathyroid hormone level def: "greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body" [MESH:D06.472.699.590, MGI:pvb] synonym: "increased circulating level of parathyroid hormone" EXACT [] synonym: "increased circulating PTH level" EXACT [] is_a: MP:0002903 ! abnormal circulating parathyroid hormone level [Term] id: MP:0002905 name: decreased circulating parathyroid hormone level def: "reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body" [MESH:D06.472.699.590, MGI:pvb] synonym: "decreased circulating level of parathyroid hormone" EXACT [] synonym: "decreased circulating PTH level" EXACT [] synonym: "reduced circulating parathyroid hormone level" EXACT [] is_a: MP:0002903 ! abnormal circulating parathyroid hormone level [Term] id: MP:0002906 name: increased susceptibility to pharmacologically induced seizures def: "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity" [MGI:csmith] synonym: "decreased resistance to pharmacologically induced seizures" EXACT [] synonym: "susceptibility to pharmacologically induced seizures" RELATED [] is_a: MP:0000950 ! abnormal seizure response to pharmacological agent [Term] id: MP:0002907 name: abnormal parturition def: "defect in the process of labor and delivery in female animals" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal childbirth" NARROW [] is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0002908 name: delayed wound healing def: "longer time requirement for the ability to self-repair and close wounds than normal" [J:63037] is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0002909 name: abnormal adrenal gland physiology def: "any functional anomaly of the surparenal gland, including the ability to produce and secrete hormones" [MGI:hdene] synonym: "abnormal adrenal gland function" EXACT [] synonym: "abnormal adrenal physiology" RELATED [] is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0002910 name: abnormal excitatory postsynaptic currents def: "defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [ISBN:0838580343] synonym: "abnormal EPSCs" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002911 name: abnormal inhibitory postsynaptic potential def: "defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [ISBN:0838580343] synonym: "abnormal IPSP" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002912 name: abnormal excitatory postsynaptic potential def: "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [ISBN:0838580343] synonym: "abnormal EPSP" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002913 name: abnormal PNS synaptic transmission def: "defect in the communication from a neuron to a target across a synapse in the peripheral nervous system" [MESH:G04.335.880.850] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002914 name: abnormal endplate potential def: "defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials" [ISBN:0838580343] synonym: "abnormal end plate potential activity" EXACT [] synonym: "abnormal EPP activity" EXACT [] is_a: MP:0002913 ! abnormal PNS synaptic transmission [Term] id: MP:0002915 name: abnormal synaptic depression def: "changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [ISBN:0838580343] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002916 name: increased synaptic depression def: "increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [ISBN:0838580343] is_a: MP:0002915 ! abnormal synaptic depression [Term] id: MP:0002917 name: decreased synaptic depression def: "decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [ISBN:0838580343] synonym: "reduced synaptic depression" EXACT [] is_a: MP:0002915 ! abnormal synaptic depression [Term] id: MP:0002918 name: abnormal paired-pulse facilitation def: "defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus" [ISBN:0838580343] synonym: "abnormal paired pulse facilitation" EXACT [] synonym: "abnormal PPF" EXACT [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002919 name: enhanced paired-pulse facilitation def: "increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus" [ISBN:0838580343] synonym: "enhanced paired pulse facilitation" EXACT [] synonym: "enhanced PPF" EXACT [] is_a: MP:0002918 ! abnormal paired-pulse facilitation [Term] id: MP:0002920 name: decreased paired-pulse facilitation def: "reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus" [ISBN:0838580343] synonym: "decreased paired pulse facilitation" EXACT [] synonym: "reduced paired-pulse facilitation" EXACT [] synonym: "reduced PPF" EXACT [] is_a: MP:0002918 ! abnormal paired-pulse facilitation [Term] id: MP:0002921 name: abnormal post-tetanic potentiation def: "defects in the size or duration of potentials that persist after tetanic stimulation of central synapses" [ISBN:0838580343] synonym: "abnormal post-tetanic potential" RELATED [] synonym: "abnormal PTP" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002922 name: decreased post-tetanic potentiation def: "reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses" [ISBN:0838580343] synonym: "decreased post-tetanic potential" RELATED [] synonym: "decreased PTP" EXACT [] synonym: "reduced post-tetanic potential" EXACT [] is_a: MP:0002921 ! abnormal post-tetanic potentiation [Term] id: MP:0002923 name: increased post-tetanic potentiation def: "increase in the size or duration of potentials that persist after tetanic stimulation of central synapses" [ISBN:0838580343] synonym: "increased post-tetanic potential" RELATED [] synonym: "increased PTP" EXACT [] is_a: MP:0002921 ! abnormal post-tetanic potentiation [Term] id: MP:0002924 name: delayed CNS synapse formation def: "increase in time required to complete the process of generating connections between an axon and effector tissue or neuron" [MGI:csmith] is_a: MP:0004996 ! abnormal CNS synapse formation [Term] id: MP:0002925 name: abnormal cardiovascular development def: "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:cur] is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0002926 name: aganglionic megacolon def: "extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0002731 ! megacolon [Term] id: MP:0002927 name: toxic megacolon def: "severe non-obstructive dilation of the colon" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0002731 ! megacolon [Term] id: MP:0002928 name: abnormal bile duct morphology def: "any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines" [MESH:A03.159.183, RGD:cur] synonym: "abnormal bile duct" EXACT [] synonym: "bile duct dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0005083 ! abnormal biliary tract morphology [Term] id: MP:0002929 name: abnormal bile duct development def: "incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines" [MESH:A03.159.183, RGD:cur] is_a: MP:0002928 ! abnormal bile duct morphology is_a: MP:0003943 ! abnormal hepatobiliary system development [Term] id: MP:0002930 name: hair cell degeneration def: "OBSOLETE. a retrogressive impairment of function, destruction or apoptosis of the sensory epithelial cells of the inner ear" [ISBN:0-683-40008-8, RGD:cur] is_obsolete: true consider: MP:0004324 consider: MP:0004362 [Term] id: MP:0002931 name: glutaricadicuria def: "an accumulation of an intermediate of tryptophan catabolism in the urine" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0003311 ! aminoaciduria [Term] id: MP:0002932 name: abnormal joint morphology def: "any structural anomaly of the moveable articulation point of two or more bones" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "joint dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0002933 name: joint inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the joints" [RGD:cur] synonym: "synovitis" EXACT [] is_a: MP:0001533 ! abnormal skeleton physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0002934 name: acute joint inflammation def: "early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the joints; initiated by injury, infection, or local immune response" [RGD:cur] is_a: MP:0002933 ! joint inflammation [Term] id: MP:0002935 name: chronic joint inflammation def: "persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response" [RGD:cur] is_a: MP:0002933 ! joint inflammation [Term] id: MP:0002936 name: joint swelling def: "enlargement of the joints, usually due to an accumulation of fluid" [RGD:cur] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0002937 name: synovial hyperemia def: "an increased blood flow to the a synovial joint" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0002938 name: white spotting def: "the appearance of patches of white fur" [MGI:csmith] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0002939 name: head spot def: "the appearance of a round area of white fur on the head" [MGI:csmith] is_a: MP:0002938 ! white spotting [Term] id: MP:0002940 name: variable body spotting alt_id: MP:0000369 def: "the appearance of patches of white fur at random on the coat" [MGI:csmith] synonym: "variable white spotting" EXACT [] is_a: MP:0002938 ! white spotting [Term] id: MP:0002941 name: increased circulating alanine transaminase level def: "increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [ISBN:0-683-40008-8, MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated alanine transaminase level" EXACT [] synonym: "elevated ALT level" EXACT [] synonym: "elevated circulating alanine transaminase level" EXACT [] synonym: "elevated glutamate pyruvate transaminase level" EXACT [] synonym: "elevated glutamic-pyruvic transaminase level" EXACT [] synonym: "elevated GPT level" EXACT [] synonym: "elevated SGPT level" EXACT [] synonym: "increased ALT level" EXACT [] synonym: "increased glutamate pyruvate transaminase level" EXACT [] synonym: "increased glutamic-pyruvic transaminase level" EXACT [] synonym: "increased GPT level" EXACT [] synonym: "increased SGPT level" EXACT [] is_a: MP:0001573 ! abnormal circulating alanine transaminase level [Term] id: MP:0002942 name: decreased circulating alanine transaminase level def: "decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [ISBN:0-683-40008-8, MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased ALT level" EXACT [] synonym: "decreased glutamate pyruvate transaminase level" EXACT [] synonym: "decreased glutamic-pyruvic transaminase level" EXACT [] synonym: "decreased GPT level" EXACT [] synonym: "decreased SGPT level" EXACT [] synonym: "reduced alanine transaminase level" EXACT [] synonym: "reduced ALT level" EXACT [] synonym: "reduced circulating alanine transaminase level" EXACT [] synonym: "reduced glutamate pyruvate transaminase level" EXACT [] synonym: "reduced glutamic-pyruvic transaminase level" EXACT [] synonym: "reduced GPT level" EXACT [] synonym: "reduced SGPT level" EXACT [] is_a: MP:0001573 ! abnormal circulating alanine transaminase level [Term] id: MP:0002943 name: abnormal lactate dehydrogenase level def: "aberrant concentration of this enzyme, which catalyzes the interconversion of lactate and pyruvate" [J:87714, MGI:pvb] synonym: "abnormal LDH level" EXACT [] is_a: MP:0005319 ! abnormal enzyme/ coenzyme level [Term] id: MP:0002944 name: increased lactate dehydrogenase level def: "greater than the normal concentration of this enzyme, which catalyzes the interconversion of lactate and pyruvate" [MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated lactate dehydrogenase level" EXACT [] synonym: "elevated LDH level" EXACT [] synonym: "increased LDH level" EXACT [] is_a: MP:0002943 ! abnormal lactate dehydrogenase level [Term] id: MP:0002945 name: abnormal inhibitory postsynaptic currents def: "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [ISBN:0838580343, MGI:csmith] synonym: "abnormal IPSCs" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002946 name: delayed axon outgrowth def: "an increased amount of time required for an axon to extend from a neuron cell body and find the target" [J:77048, MGI:csmith] is_a: MP:0003651 ! abnormal axon outgrowth [Term] id: MP:0002947 name: hemangioma def: "proliferation of blood vessels leading to a mass that resembles a neoplasm" [J:87544, MGI:pvb] synonym: "angioma" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010291 ! increased cardiovascular system tumor incidence [Term] id: MP:0002948 name: abnormal neuron specification def: "defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons" [J:87948, MGI:csmith] synonym: "abnormal neuronal specification" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0002949 name: abnormal neural crest cells def: "defect in the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult" [ISBN:0838580343] is_obsolete: true consider: MP:0009845 [Term] id: MP:0002950 name: abnormal neural crest cell migration def: "any anomaly in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult" [ISBN:0838580343] synonym: "abnormal NCC migration" EXACT [] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0008932 ! abnormal embryonic tissue physiology [Term] id: MP:0002951 name: small thyroid gland def: "reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin" [ISBN:0-683-40008-8, MGI:pvb] synonym: "reduced thyroid gland" EXACT [] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0002952 name: ventricular cardiomyopathy def: "diseases of the ventricles of the heart" [MGI:cwg] is_a: MP:0005330 ! cardiomyopathy [Term] id: MP:0002953 name: thick ventricular wall def: "increased depth of the cardiac wall of the heart ventricles" [MGI:anna] is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0002954 name: abnormal aerobic energy metabolism alt_id: MP:0005622 def: "defect in respiratory chain energy production (oxidative metabolism) process in all living cells where oxygen is consumed and carbon dioxide and water are produced" [ISBN:0-683-40008-8] synonym: "abnormal cell respiration" EXACT [] synonym: "abnormal mitochondrial energy production" EXACT [] synonym: "abnormal respiratory chain function" EXACT [] is_a: MP:0006036 ! abnormal mitochondrial physiology [Term] id: MP:0002955 name: increased compensatory renal growth def: "increased additional growth of a kidney upon removal of the other kidney through surgery or disease" [RGD:cur] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002956 name: decreased compensatory renal growth def: "decreased additional growth of a kidney upon removal of the other kidney through surgery or disease" [RGD:cur] synonym: "reduced compensatory renal growth" EXACT [] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002957 name: intestinal adenocarcinoma def: "malignant neoplasm of epithelial cells in the intestine" [MGI:pvb] is_a: MP:0009308 ! adenocarcinoma is_a: MP:0010279 ! increased gastrointestinal tumor incidence [Term] id: MP:0002958 name: aqueductal stenosis def: "the most common form of obstructive hydrocephaly and results from narrowing of the aqueduct of Sylvius, which connects the third and fourth ventricles" [ISBN:0-683-40008-8] is_a: MP:0000917 ! obstructive hydrocephaly is_a: MP:0005537 ! abnormal cerebral aqueduct morphology [Term] id: MP:0002959 name: increased urine microalbumin level def: "greater than the normal amount of microalbumin in the urine" [RGD:cur] synonym: "increased microalbumin excretion" EXACT [] synonym: "microalbuminuria" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0002960 name: decreased urine microalbumin level def: "less than the normal amount of microalbumin in the urine" [MGI:csmith, RGD:cur] synonym: "decreased microalbumin excretion" EXACT [] synonym: "reduced microalbumin excretion" EXACT [] is_a: MP:0002963 ! decreased urine protein level [Term] id: MP:0002961 name: abnormal axon guidance def: "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues" [ISBN:0838580343] is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0002962 name: increased urine protein level alt_id: MP:0005160 def: "greater than the normal amount of proteins in the urine" [MGI:csmith, RGD:cur] synonym: "increased protein excretion" EXACT [] synonym: "proteinuria" RELATED [] is_a: MP:0006315 ! abnormal urine protein level [Term] id: MP:0002963 name: decreased urine protein level def: "less than the normal amount of proteins in the urine" [MGI:csmith, RGD:cur] synonym: "decreased protein excretion" EXACT [] synonym: "reduced protein excretion" EXACT [] is_a: MP:0006315 ! abnormal urine protein level [Term] id: MP:0002964 name: aortic elastic tissue lesions def: "focal pathological changes in the elastic lamella of the muscular layer of the main trunk of the arterial system" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0009862 ! abnormal aorta elastic tissue morphology [Term] id: MP:0002965 name: hyperalbuminemia def: "blood serum albumin concentration above the normal range" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0000199 ! abnormal circulating serum albumin level [Term] id: MP:0002966 name: decreased circulating alkaline phosphatase level alt_id: MP:0002967 def: "reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased circulating ALP levels" EXACT [] synonym: "decreased plasma alkaline phosphatase level" EXACT [] synonym: "decreased serum alkaline phosphatase level" EXACT [] synonym: "reduced circulating alkaline phosphatase level" EXACT [] synonym: "reduced circulating ALP" EXACT [] synonym: "reduced plasma alkaline phosphatase level" EXACT [] synonym: "reduced serum alkaline phosphatase level" EXACT [] is_a: MP:0000202 ! abnormal circulating alkaline phosphatase level [Term] id: MP:0002968 name: increased circulating alkaline phosphatase level alt_id: MP:0002775 def: "elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated serum alkaline phosphatase level" EXACT [] synonym: "elevated serum AP level" EXACT [] synonym: "elevated serum level of alkaline phosphatase" EXACT [] synonym: "elevated serum level of AP" EXACT [] synonym: "increased circulating ALP level" EXACT [] synonym: "increased plasma alkaline phosphatase level" EXACT [] synonym: "increased serum alkaline phosphatase level" EXACT [] is_a: MP:0000202 ! abnormal circulating alkaline phosphatase level [Term] id: MP:0002969 name: impaired social transmission of food preference def: "defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues" [PMID:10792055] is_a: MP:0002802 ! abnormal discrimination learning [Term] id: MP:0002970 name: abnormal white adipose tissue morphology def: "any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels" [ISBN:0-683-40008-8] synonym: "abnormal white fat morphology" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0002971 name: abnormal brown adipose tissue morphology def: "any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MESH:A10.165.114.322] synonym: "abnormal brown fat morphology" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0002972 name: abnormal cardiac muscle contractility def: "altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume" [ISBN:0-683-40008-8] synonym: "abnormal fractional shortening (FS)" NARROW [] synonym: "abnormal peak of aortic outflow velocity (PAV)" NARROW [] synonym: "abnormal velocity of circumferential fiber shortening (Vcfc)" NARROW [] synonym: "abnormal ventricular ejection fraction volume" NARROW [] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0005620 ! abnormal muscle contractility [Term] id: MP:0002975 name: vascular smooth muscle hypertrophy def: "increase in size or thickness of the smooth muscle of the vascular wall" [RGD:cur] is_a: MP:0005592 ! abnormal vascular smooth muscle morphology [Term] id: MP:0002976 name: vascular smooth muscle hypotrophy def: "decrease in size or thickness of the smooth muscle of the vascular wall" [RGD:cur] is_a: MP:0005592 ! abnormal vascular smooth muscle morphology [Term] id: MP:0002977 name: abnormal patterning of the aortic arch def: "OBSOLETE. abnormal development or differentiation of the convex portion of the aorta between the ascending and descending parts of the aorta" [ISBN:0-683-40008-8] comment: Obsolete. Use instead the terms abnormal aortic arch and aortic arch branch attachment (MP:0010464) and its children or abnormal aortic arch development (MP:0010241). is_obsolete: true consider: MP:0010241 consider: MP:0010464 [Term] id: MP:0002978 name: absent otoliths def: "absence of the crystalline calciferous particles adhering to the otolithic membrane" [ISBN:0-683-40008-8] synonym: "absent ear crystals" EXACT [] synonym: "absent otoconia" EXACT [] synonym: "absent statoconia" EXACT [] synonym: "absent statoliths" EXACT [] is_a: MP:0002894 ! abnormal otolith morphology [Term] id: MP:0002979 name: abnormal vestibular response def: "OBSOLETE. abnormal response to changes in motion" [MGI:smb] is_obsolete: true consider: MP:0004742 [Term] id: MP:0002980 name: abnormal postural reflex def: "any anomaly in the responses that control the normal position of the trunk and extremities and/or posture" [ISBN:0-683-40008-8] synonym: "abnormal static reflexes" RELATED [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0002981 name: increased liver weight def: "a greater than average weight of the bile-secreting exocrine gland" [MGI:il] synonym: "increased hepatic weight" EXACT [] is_a: MP:0000599 ! enlarged liver is_a: MP:0004847 ! abnormal liver weight [Term] id: MP:0002982 name: abnormal primordial germ cell migration def: "any anomaly in the orderly movement of a primordial germ cell, a cell specialized to produce haploid gametes, from one site to another during development" [MGI:anna] synonym: "abnormal germ cell migration" RELATED [] synonym: "abnormal PGC migration" EXACT [] is_a: MP:0001919 ! abnormal reproductive system physiology is_a: MP:0003091 ! abnormal cell migration [Term] id: MP:0002983 name: increased retinal ganglion cell number def: "greater number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith, MGI:il] is_a: MP:0006006 ! increased sensory neuron number is_a: MP:0008056 ! abnormal retinal ganglion cell morphology [Term] id: MP:0002984 name: retina hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [ISBN:0-683-40008-8, MGI:pvb] synonym: "hypoplastic retina" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0002985 name: abnormal urine calcium level def: "any change in the amount of calcium in the urine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0002986 name: decreased urine calcium level def: "abnormally low amounts of calcium in the urine" [MGI:csmith] synonym: "hypocalciuria" EXACT [] synonym: "reduced urinary calcium concentration" EXACT [] synonym: "reduced urinary calcium level" EXACT [] synonym: "reduced urine calcium level" EXACT [] is_a: MP:0002985 ! abnormal urine calcium level [Term] id: MP:0002987 name: abnormal urine osmolality def: "changes in the amount of ions in the urine compared to the normal state" [MGI:csmith] synonym: "abnormal urine osmolarity" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0002988 name: decreased urine osmolality def: "reduction in the amount of ions in the urine compared to the normal state" [MGI:csmith] synonym: "decreased urine osmolarity" EXACT [] synonym: "reduced urine osmolality" EXACT [] is_a: MP:0002987 ! abnormal urine osmolality [Term] id: MP:0002989 name: small kidney def: "reduced physical bulk one or both of the organs responsible for urine secretion" [MGI:csmith] synonym: "decreased kidney size" EXACT [] synonym: "reduced kidney size" EXACT [] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002990 name: short ureter def: "reduced length of the tube that conducts the urine from the renal pelvis to the bladder" [ISBN:0-683-40008-8] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0002991 name: abnormal sebaceous gland physiology def: "any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts" [MESH:A10.336.827] synonym: "al sebaceous gland function" EXACT [] is_a: MP:0002164 ! abnormal gland physiology is_a: MP:0010680 ! abnormal skin adnexa physiology [Term] id: MP:0002992 name: abnormal sebaceous lipid secretion def: "abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin" [MGI:smb] is_a: MP:0002991 ! abnormal sebaceous gland physiology [Term] id: MP:0002993 name: arthritis def: "autoimmune joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures" [ISBN:0-683-40008-8, MESH:C05.550.114] is_a: MP:0002933 ! joint inflammation [Term] id: MP:0002995 name: primary sex reversal def: "gonad type is not consistent with chromosomal sex" [MGI:llw2] synonym: "sex-reversed gonad" EXACT [] is_a: MP:0002211 ! abnormal primary sex determination is_a: MP:0005652 ! sex reversal [Term] id: MP:0002996 name: ovotestis def: "gonad with both ovarian and testicular tissue" [MGI:llw2] is_a: MP:0002211 ! abnormal primary sex determination is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0002997 name: enlarged seminal vesicle def: "increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [MGI:anna] synonym: "enlarged seminal gland" EXACT [] is_a: MP:0004907 ! abnormal seminal vesicle size [Term] id: MP:0002998 name: abnormal bone remodeling def: "aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively" [MESH:G04.185.753.150, MGI:anna] xref: GO:0046849 is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0002999 name: abnormal bone healing def: "defects in the restoration of integrity to bone after trauma" [MGI:anna] is_a: MP:0001533 ! abnormal skeleton physiology is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0003005 name: abnormal hippocampal fimbria morphology def: "any structural anomaly of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure" [ISBN:0-683-40008-8, MESH:A08.186.211.464.265] synonym: "abnormal fimbra hippocampus morphology" EXACT [] synonym: "abnormal hippocampus fimbra morphology" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0003006 name: abnormal hippocampal fornix morphology def: "any structural anomaly of the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body" [ISBN:0-683-40008-8, MESH:A08.186.211.464.265] synonym: "abnormal fornix hippocampus morphology" EXACT [] synonym: "abnormal hippocampus fornix morphology" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0003007 name: ectopic thymus def: "ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck" [J:76015, MGI:anna] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0003008 name: enhanced long term potentiation def: "greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [ISBN:0838580343] synonym: "enhanced long-term potentiation" EXACT [] synonym: "enhanced LTP" EXACT [] is_a: MP:0002207 ! abnormal long term potentiation [Term] id: MP:0003009 name: abnormal cytokine secretion def: "anomaly in the production or cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells" [ISBN:0-8153-1691-7, MGI:smb] is_a: MP:0002723 ! abnormal immune serum protein physiology [Term] id: MP:0003010 name: decreased mortality induced by ionizing radiation def: "reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays" [J:88888, MGI:smb] synonym: "reduced mortality induced by ionizing radiation" EXACT [] is_a: MP:0009764 ! decreased sensitivity to induced morbidity/mortality [Term] id: MP:0003011 name: delayed dark adaptation def: "increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights" [J:68444, MGI:hdene] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0003012 name: no phenotypic analysis def: "no description of morphological, physiological or behavioral information presented" [MGI:csmith] synonym: "no phenotype described" EXACT [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0003014 name: abnormal kidney medulla morphology def: "any structural anomaly of the inner portion of the kidney consisting of the renal pyramids" [ISBN:0-683-40008-8, MGI:smb] synonym: "abnormal renal medulla" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003015 name: abnormal circulating bicarbonate level def: "aberrant concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood" [MESH:D01.200.275.150.100, RGD:cur] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0003016 name: increased circulating bicarbonate level def: "elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood" [MESH:D01.200.275.150.100, RGD:cur] is_a: MP:0003015 ! abnormal circulating bicarbonate level [Term] id: MP:0003017 name: decreased circulating bicarbonate level def: "reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood" [MESH:D01.200.275.150.100, RGD:cur] synonym: "reduced circulating bicarbonate level" EXACT [] is_a: MP:0003015 ! abnormal circulating bicarbonate level [Term] id: MP:0003018 name: abnormal circulating chloride level def: "aberrant concentration of chlorine salts in the circulation" [RGD:cur] is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0003019 name: increased circulating chloride level def: "elevated concentration of chlorine salts in the circulation" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyperchloremia" EXACT [] is_a: MP:0003018 ! abnormal circulating chloride level [Term] id: MP:0003020 name: decreased circulating chloride level def: "reduced concentration of chlorine salts in the circulation" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypochloremia" EXACT [] synonym: "reduced circulating chloride level" EXACT [] is_a: MP:0003018 ! abnormal circulating chloride level [Term] id: MP:0003021 name: abnormal coronary flow rate def: "aberrant rate of blood flow in the blood vessels supplying the heart" [RGD:cur] is_a: MP:0000233 ! abnormal blood flow velocity is_a: MP:0006111 ! abnormal coronary circulation [Term] id: MP:0003022 name: increased coronary flow rate def: "elevated rate of blood flow in the blood vessels supplying the heart" [RGD:cur] is_a: MP:0003021 ! abnormal coronary flow rate [Term] id: MP:0003023 name: decreased coronary flow rate def: "reduced rate of blood flow in the blood vessels supplying the heart" [RGD:cur] synonym: "reduced coronary flow rate" EXACT [] is_a: MP:0003021 ! abnormal coronary flow rate [Term] id: MP:0003024 name: coronary artery stenosis def: "constriction or narrowing of any of the blood vessels supplying the heart" [ISBN:0-683-40008-8] synonym: "coronary artery disease" EXACT [] is_a: MP:0004111 ! abnormal coronary artery morphology is_a: MP:0006135 ! artery stenosis [Term] id: MP:0003025 name: increased vasoconstriction alt_id: MP:0005588 def: "greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased vascular smooth muscle contraction" EXACT [] is_a: MP:0000250 ! abnormal vasoconstriction [Term] id: MP:0003026 name: decreased vasoconstriction alt_id: MP:0005589 def: "reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased vascular smooth muscle contraction" EXACT [] synonym: "reduced vascular smooth muscle contraction" EXACT [] synonym: "reduced vasoconstriction" EXACT [] is_a: MP:0000250 ! abnormal vasoconstriction is_a: MP:0000740 ! impaired smooth muscle contractility [Term] id: MP:0003027 name: abnormal blood pH regulation def: "anomaly in the function of the buffer systems of the blood in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the blood, as measured by the concentration of the hydrogen ion" [MGI:csmith, RGD:cur] is_a: MP:0004043 ! abnormal pH regulation is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0003028 name: alkalosis def: "a pathological condition characterized by a decrease in the hydrogen ion concentration of arterial blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide to the body fluids" [ISBN:0-683-40008-8, MESH:C18.452.076.354, RGD:cur] is_a: MP:0003027 ! abnormal blood pH regulation [Term] id: MP:0003029 name: alkalemia def: "decreased concentration of H-ion in the blood or a rise in pH" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0003027 ! abnormal blood pH regulation [Term] id: MP:0003030 name: acidemia def: "increased concentration of H-ion in the blood or a fall below normal in pH" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0003027 ! abnormal blood pH regulation [Term] id: MP:0003031 name: acidosis def: "a pathological state characterized by an increase in the hydrogen ion concentration of arterial blood; caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids" [ISBN:0-683-40008-8, MESH:C18.452.076.176, RGD:cur] is_a: MP:0003027 ! abnormal blood pH regulation [Term] id: MP:0003032 name: hypocapnia def: "reduced concentration of CO2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased partial CO2 pressure" EXACT [] is_a: MP:0003860 ! abnormal carbon dioxide level [Term] id: MP:0003033 name: abnormal pulmonary vascular resistance def: "deviation from the normal force opposing blood flow in the lung blood vessels" [RGD:cur] is_a: MP:0005532 ! abnormal vascular resistance [Term] id: MP:0003034 name: increased pulmonary vascular resistance def: "greater than the normal force opposing blood flow in the lung blood vessels" [RGD:cur] is_a: MP:0003033 ! abnormal pulmonary vascular resistance [Term] id: MP:0003035 name: decreased pulmonary vascular resistance def: "less than the normal force opposing blood flow in the lung blood vessels" [RGD:cur] synonym: "reduced pulmonary vascular resistance" EXACT [] is_a: MP:0003033 ! abnormal pulmonary vascular resistance [Term] id: MP:0003036 name: vertebral transformation alt_id: MP:0000144 alt_id: MP:0000145 alt_id: MP:0000146 alt_id: MP:0000147 def: "homeotic transformation of a specific vertebrae to adopt the fate of another" [MGI:csmith] subset: Sanger_Terms synonym: "transformation of C7 to T1" NARROW [] synonym: "transformation of L6 to S1" NARROW [] synonym: "transformation of T7 to T8" NARROW [] synonym: "transformation of TX to L1" NARROW [] synonym: "transitional vertebrae" EXACT [] synonym: "vertebral homeotic transformation" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0003037 name: increased myocardial infarction size def: "increased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased infarction size" BROAD [] synonym: "increased myocardium infarction size" EXACT [] is_a: MP:0000343 ! altered response to myocardial infarction [Term] id: MP:0003038 name: decreased myocardial infarction size def: "decreased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased infarction size" BROAD [] synonym: "decreased myocardium infarction size" EXACT [] synonym: "reduced infarction size" BROAD [] synonym: "reduced myocardial infarction size" EXACT [] synonym: "reduced myocardium infarction size" EXACT [] is_a: MP:0000343 ! altered response to myocardial infarction [Term] id: MP:0003039 name: increased time of peak ischemic contracture def: "increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0000343 ! altered response to myocardial infarction [Term] id: MP:0003040 name: decreased time of peak ischemic contracture def: "decreased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] synonym: "reduced time of peak ischemic contracture" EXACT [] is_a: MP:0000343 ! altered response to myocardial infarction [Term] id: MP:0003041 name: increased time of onset of induced ischemic contracture def: "increased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0000343 ! altered response to myocardial infarction [Term] id: MP:0003042 name: decreased time of onset of induced ischemic contracture def: "decreased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] synonym: "reduced time of onset of induced ischemic contracture" EXACT [] is_a: MP:0000343 ! altered response to myocardial infarction [Term] id: MP:0003043 name: hypoalgesia def: "decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area)" [MESH:C10.597.751.791.400, MGI:anna, MGI:csmith] synonym: "increased pain threshold" EXACT [] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0003044 name: impaired basement membrane formation def: "defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components" [ISBN:0-683-40008-8] synonym: "impaired basement lamina formation" EXACT [] is_a: MP:0004272 ! abnormal basement membrane morphology [Term] id: MP:0003045 name: fibrosis def: "invasion of fibrous connective tissue into any organ or multiple organs, often resulting from inflammation or injury" [MESH:C23.550.355, MGI:anna] is_a: MP:0002168 ! other aberrant phenotype [Term] id: MP:0003046 name: liver cirrhosis def: "liver disease in which the occurrence of fibrotic nodules cause diffuse damage to parenchymal cells, disruptions in microcirculation, vascular anatomy and hepatic architecture, resulting in hepatic dysfunction and ultimately, hepatic failure" [ISBN:0-683-40008-8, MGI:anna] synonym: "hepatic cirrhosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003047 name: abnormal thoracic vertebrae morphology def: "any structural anomaly of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:A02.835.232.834.892, MGI:csmith] is_a: MP:0000459 ! abnormal presacral vertebrae morphology is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0003048 name: abnormal cervical vertebrae morphology def: "any structural anomaly of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull" [MESH:A02.835.232.834.151, MGI:csmith] is_a: MP:0000459 ! abnormal presacral vertebrae morphology [Term] id: MP:0003049 name: abnormal lumbar vertebrae morphology def: "any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:A02.835.232.834.519, MGI:csmith] is_a: MP:0000459 ! abnormal presacral vertebrae morphology [Term] id: MP:0003050 name: abnormal sacral vertebrae morphology def: "any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith] comment: In humans, vertebrae S1-S5 are normally fused in maturity, with no intervertebral discs. In rodents, these vertebrae remain distinct in adulthood. is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0003051 name: curly tail def: "a loop or corkscrew-like curl in the tail" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "curled tail" EXACT [] synonym: "loop tail" EXACT [] synonym: "looptail" EXACT [] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0003052 name: omphalocele alt_id: Fyler:4404 def: "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion, that is caused by a severe body wall defect" [ISBN:0-683-40008-8, MGI:anna, PMID:20333300] comment: Do not confuse with umbilical hernia - caused by a failure to retract the umbilical hernia that occurs normally during development. subset: CvDC_Terms synonym: "amniocele" EXACT [] synonym: "exomphalos" EXACT [] synonym: "exumbilication" EXACT [] is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0003053 name: delayed tooth eruption def: "postponed onset of the growth of the teeth out of the gums" [MGI:pvb] is_a: MP:0000119 ! abnormal tooth eruption [Term] id: MP:0003054 name: spina bifida alt_id: Fyler:4157 def: "common congenital midline defect of fusion of the vertebral arch" [MESH:C10.500.680.800] subset: CvDC_Terms synonym: "spinal dysraphism" EXACT [] is_a: MP:0000929 ! open neural tube [Term] id: MP:0003055 name: abnormal long bone epiphyseal plate morphology def: "any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles" [MESH:A02.835.232.251.352] synonym: "abnormal long bone epiphysial plate morphology" EXACT [] synonym: "abnormal long bone growth plate morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0003723 ! abnormal long bone morphology is_a: MP:0006395 ! abnormal epiphyseal plate morphology [Term] id: MP:0003056 name: abnormal hyoid bone morphology def: "any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [ISBN:0-683-40008-8, MGI:hdene] synonym: "abnormal lingual bone" EXACT [] synonym: "abnormal tongue bone morphology" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0003057 name: abnormal epicardium morphology def: "any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal lamina visceralis pericardii" EXACT [] synonym: "abnormal visceral layer of serous pericardium" EXACT [] synonym: "abnormal visceral serous pericardium morphology" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0003058 name: increased insulin secretion def: "greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids" [MESH:D06.472.699.587.740.625, RGD:cur] synonym: "elevated insulin secretion" EXACT [] is_a: MP:0003564 ! abnormal insulin secretion [Term] id: MP:0003059 name: decreased insulin secretion def: "reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids" [MESH:D06.472.699.587.740.625, RGD:cur] synonym: "reduced insulin secretion" EXACT [] is_a: MP:0003564 ! abnormal insulin secretion [Term] id: MP:0003060 name: increased aerobic running capacity def: "greater ability to run at defined speeds and/or distances compared to controls" [RGD:cur] is_a: MP:0000348 ! abnormal aerobic fitness [Term] id: MP:0003061 name: decreased aerobic running capacity def: "reduced ability to run at defined speeds and/or distances compared to controls" [RGD:cur] is_a: MP:0000348 ! abnormal aerobic fitness [Term] id: MP:0003062 name: abnormal coping response def: "altered ability to respond productively to a stressful situation or stimulus, or failure to seek pleasurable stimuli" [RGD:cur] subset: Europhenome_Terms is_a: MP:0003360 ! abnormal depression-related behavior [Term] id: MP:0003063 name: increased coping response def: "enhanced ability to respond productively to a stressful situation" [RGD:cur] subset: Europhenome_Terms is_a: MP:0003062 ! abnormal coping response [Term] id: MP:0003064 name: decreased coping response def: "reduced ability to respond productively to a stressful situation" [RGD:cur] subset: Europhenome_Terms synonym: "reduced coping response" EXACT [] is_a: MP:0003062 ! abnormal coping response [Term] id: MP:0003065 name: abnormal liver copper level def: "anomaly in the amount of copper present in the liver tissue" [RGD:cur] synonym: "abnormal hepatic copper content" EXACT [] synonym: "abnormal liver copper concentration" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0003952 ! abnormal copper level [Term] id: MP:0003066 name: increased liver copper level def: "a greater accumulation of copper in the liver tissue compared to controls" [RGD:cur] synonym: "increased hepatic copper content" EXACT [] is_a: MP:0003065 ! abnormal liver copper level [Term] id: MP:0003067 name: decreased liver copper level def: "a reduced amount of copper in the liver tissue compared to controls" [RGD:cur] synonym: "decreased hepatic copper content" EXACT [] synonym: "reduced hepatic copper content" EXACT [] synonym: "reduced liver copper level" EXACT [] is_a: MP:0003065 ! abnormal liver copper level [Term] id: MP:0003068 name: enlarged kidney def: "larger than average size of the kidney" [MGI:pvb] synonym: "increased kidney size" EXACT [] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0003069 name: abnormal superior semicircular canal morphology def: "any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal anterior semicircular canal" EXACT [] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0003070 name: increased vascular permeability def: "greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [ISBN:0-683-40008-8] is_a: MP:0001619 ! abnormal vascular permeability [Term] id: MP:0003071 name: decreased vascular permeability def: "reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [ISBN:0-683-40008-8] synonym: "reduced vascular permeability" EXACT [] is_a: MP:0001619 ! abnormal vascular permeability [Term] id: MP:0003072 name: abnormal metatarsal bone morphology def: "any structural anomaly in the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges" [ISBN:0-683-40008-8, ISBN-13:978-0028454405] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0003073 name: abnormal metacarpal bone morphology def: "any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8, ISBN-13:978-0028454405] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0003074 name: absent metacarpal bones def: "missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8, ISBN-13:978-0028454405] is_a: MP:0003073 ! abnormal metacarpal bone morphology [Term] id: MP:0003075 name: altered response to CNS ischemic injury def: "altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of a tissue in the central nervous system" [MGI:csmith] synonym: "response to stroke" NARROW [] is_a: MP:0003633 ! abnormal nervous system physiology is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0003076 name: increased susceptibility to ischemic brain injury def: "more severe response, such as necrotic tissue size, to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of all or part of the brain tissue, compared to controls" [MGI:csmith] synonym: "decreased resistance to ischemic brain injury" EXACT [] is_a: MP:0003075 ! altered response to CNS ischemic injury is_a: MP:0005165 ! increased susceptibility to injury [Term] id: MP:0003077 name: abnormal cell cycle def: "failure to progress or abnormal progression through the stages of the cell cycle" [MGI:smb] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003078 name: aphakia def: "absence of the crystalline lens of the eye" [ISBN:0-683-40008-8, MGI:anna] synonym: "absence of lens" EXACT [] synonym: "absent lens" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003079 name: decreased susceptibility to induced joint inflammation def: "reduced or absent inflammatory response in the joints due to chemical or mechanical agents" [RGD:cur] synonym: "increased resistance to induced joint inflammation" EXACT [] is_a: MP:0002933 ! joint inflammation [Term] id: MP:0003080 name: increased natural killer cell mediated cytotoxicity def: "increased ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors" [GO:0042267, RGD:cur] synonym: "competent NK cell cytolysis" EXACT [] synonym: "enhanced NK cell cytolysis" EXACT [] synonym: "increased killer activity" BROAD [] synonym: "increased natural killer cell mediated cell death" EXACT [] synonym: "increased natural killer cell mediated cell killing" EXACT [] synonym: "increased natural killer cell mediated cytolysis" EXACT [] synonym: "increased natural killer-cell mediated cytolysis" EXACT [] synonym: "increased NK cell mediated cell death" EXACT [] synonym: "increased NK cell mediated cell killing" EXACT [] synonym: "increased NK cell mediated cytolysis" EXACT [] synonym: "increased NK cell mediated cytotoxicity" EXACT [] is_a: MP:0011719 ! abnormal natural killer cell mediated cytotoxicity [Term] id: MP:0003081 name: abnormal soleus morphology def: "any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [ISBN:0-683-40008-8, MGI:smb] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0003082 name: abnormal gastrocnemius morphology def: "any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [ISBN:0-683-40008-8, MGI:smb] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0003083 name: abnormal tibialis anterior morphology def: "any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [ISBN:0-683-40008-8, MGI:smb] synonym: "abnormal TA morphology" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0003084 name: abnormal skeletal muscle fiber morphology def: "any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [ISBN:0-683-40008-8, MGI:smb] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0004087 ! abnormal muscle fiber morphology [Term] id: MP:0003085 name: abnormal egg cylinder morphology def: "any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells" [MGI:csmith] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0003086 name: hydromyelia def: "increased fluid in the central canal of the spinal cord" [J:57948, MGI:smb] synonym: "hydrorrhachis" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0003087 name: absent allantois def: "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [ISBN:0-683-40008-8] is_a: MP:0001726 ! abnormal allantois morphology [Term] id: MP:0003088 name: abnormal prepulse inhibition def: "anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [J:91131, MGI:smb] synonym: "abnormal PPI" BROAD [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0003089 name: decreased skin tensile strength def: "reduction in the normal maximum tension the skin can withstand without tearing" [ISBN:0-683-40008-8, MGI:anna] synonym: "brittle skin" EXACT [] synonym: "reduced skin tensile strength" EXACT [] is_a: MP:0005275 ! abnormal skin tensile strength [Term] id: MP:0003090 name: abnormal muscle progenitor cell migration def: "defects in the movement of cells that will develop into muscle cells out of the somites and/or to the appropriate location in the body" [MGI:smb] synonym: "abnormal myogenic progenitor cell migration" EXACT [] is_a: MP:0000729 ! abnormal myogenesis is_a: MP:0003091 ! abnormal cell migration [Term] id: MP:0003091 name: abnormal cell migration def: "any anomaly in the movement of cells from one site to another, often occuring during developmental or chemotactic processes" [GO:0016477, MGI:csmith] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003092 name: decreased corneal stroma thickness def: "reduced width of the lamellated connective tissue layer of the cornea" [MGI:anna] synonym: "reduced corneal stroma thickness" EXACT [] is_a: MP:0005300 ! abnormal corneal stroma morphology is_a: MP:0005543 ! corneal thinning [Term] id: MP:0003093 name: abnormal anterior stroma morphology def: "any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea" [MGI:anna, PMID:12556382] is_a: MP:0005300 ! abnormal corneal stroma morphology [Term] id: MP:0003094 name: abnormal posterior stroma morphology def: "any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea" [MGI:anna, PMID:12556382] is_a: MP:0005300 ! abnormal corneal stroma morphology [Term] id: MP:0003095 name: abnormal corneal stroma development def: "anomalous differentiation of the lamellated connective tissue layer of the cornea" [MGI:anna, PMID:12556382] is_a: MP:0001286 ! abnormal eye development is_a: MP:0005300 ! abnormal corneal stroma morphology [Term] id: MP:0003096 name: increased corneal light-scattering def: "anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma" [J:81616, MGI:csmith] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0003097 name: abnormal tendon stiffness def: "altered ability of tendon to maintain tensile strength and load" [MGI:anna] is_a: MP:0001533 ! abnormal skeleton physiology is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0003098 name: decreased tendon stiffness def: "reduced ability of tendon to maintain tensile strength and load" [J:79915, MGI:anna] synonym: "reduced tendon stiffness" EXACT [] synonym: "tendon weakness" EXACT [] is_a: MP:0003097 ! abnormal tendon stiffness [Term] id: MP:0003099 name: retinal detachment def: "detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma" [J:83544, MGI:anna] synonym: "detached retina" EXACT [] synonym: "retinal tear" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0003100 name: myopia def: "optical condition in which only rays from a finite distance from the eye focus on the retina" [J:83544, MGI:anna] synonym: "near sight" EXACT [] synonym: "nearsightedness" EXACT [] synonym: "short sight" EXACT [] synonym: "shortsightedness" EXACT [] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0003101 name: high myopia def: "an optical condition involving enlarging of the eye, scleral thinning and frequent detachment of the retina resulting from stress associated with excessive axial elongation" [J:83544, MGI:anna] is_a: MP:0003100 ! myopia [Term] id: MP:0003102 name: sclera thinning def: "reduction in the width of the fibrous, outer envelope of the eyeball, the sclera may appear blue as a result of the underlying epithelium showing through" [J:83544, MGI:anna] synonym: "blue sclera" EXACT [] is_a: MP:0002698 ! abnormal sclera morphology [Term] id: MP:0003103 name: liver degeneration def: "deterioration of the liver due to injury or disease, often accompanied by loss of function" [J:91653, MGI:smb] synonym: "hepatic degeneration" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003104 name: acrania def: "complete or partial absence of a skull; usually associated with anencephaly" [MGI:anna] synonym: "absent skull" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0003105 name: abnormal heart atrium morphology def: "any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation" [MESH:A07.541.358, MGI:csmith] synonym: "abnormal heart atria" EXACT [] synonym: "atrial dysplasia" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0003106 name: abnormal fear-related response def: "altered emotional response related to anticipation of specific pain or danger" [MGI:CFG] synonym: "abnormal fear response" EXACT [] is_a: MP:0002065 ! abnormal fear/anxiety-related behavior [Term] id: MP:0003107 name: abnormal response to novelty def: "alteration in amount of exploration/investigation of a novel object, situation or environment" [MGI:CFG] subset: Europhenome_Terms is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0003108 name: short zygomatic bone def: "reduced length of the bone that forms the prominence of the cheek" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0004468 ! small zygomatic bone [Term] id: MP:0003109 name: short femur def: "reduced length of the long bone of the thigh" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0000559 ! abnormal femur morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0003110 name: absent malleus processus brevis def: "absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule" [MGI:anna, PMID:12701100] synonym: "absent malleal processus brevis" EXACT [] is_a: MP:0010324 ! abnormal malleus processus brevis morphology [Term] id: MP:0003111 name: abnormal cell nucleus morphology def: "any structural anomaly of a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated; in most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing, but in some species, or in specialized cell types, RNA metabolism or DNA replication may be absent" [GO:0005634] synonym: "abnormal nuclear compartment morphology" EXACT [] synonym: "abnormal nucleus morphology" BROAD [] is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0003112 name: enlarged parathyroid gland def: "increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [ISBN:0-683-40008-8] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0003113 name: small parathyroid gland def: "decreased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [ISBN:0-683-40008-8] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0003114 name: pigmented parathyroid gland def: "presence of melanocytes and/or melanin in either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0003115 name: abnormal respiratory system development def: "aberrant differentiation of pulmonary tissues" [ISBN:0-683-40008-8] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0003116 name: rickets def: "overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal bone calcification" RELATED [] is_a: MP:0002896 ! abnormal bone mineralization [Term] id: MP:0003118 name: abnormal tracheal-bronchial branching morphogenesis def: "partial or complete failure of the trachea and bronchi to repeatedly divide during development of the lung" [J:91723, MGI:smb] is_a: MP:0003115 ! abnormal respiratory system development [Term] id: MP:0003119 name: abnormal digestive system development def: "abnormal formation of the organ system that converts ingested food to nutrients and energy" [MGI:smb] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003120 name: abnormal tracheal cartilage morphology def: "any structural anomaly of the cartilaginous structures that support the trachea" [J:97123, MGI:smb] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0002282 ! abnormal trachea morphology [Term] id: MP:0003121 name: genetic imprinting def: "any anomaly in the process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence" [GO:0071514] synonym: "genomic imprinting" EXACT [] is_a: MP:0005384 ! cellular phenotype [Term] id: MP:0003122 name: maternal imprinting def: "the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the maternal germline, but that are not encoded by DNA itself" [MGI:csmith] is_a: MP:0003121 ! genetic imprinting [Term] id: MP:0003123 name: paternal imprinting def: "establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself" [MGI:csmith] is_a: MP:0003121 ! genetic imprinting [Term] id: MP:0003124 name: hypospadia alt_id: Fyler:4504 def: "a urethral opening located below the normal location; in males, the opening is usually on the ventral surface of the penis, and in females, the opening is usually in the vagina" [MESH:C12.294.494.400] subset: CvDC_Terms synonym: "hypospadis" EXACT [] is_a: MP:0000537 ! abnormal urethra morphology [Term] id: MP:0003125 name: abnormal septation of the cloaca def: "absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca" [J:91491, MGI:smb] is_a: MP:0010115 ! abnormal embryonic cloaca morphology [Term] id: MP:0003126 name: abnormal external female genitalia morphology def: "any structural anomaly of the external feminine genital organs, collectively known as the vulva and composed of the mons pubis, the labia majora and minora, the clitoris, the vestibule of the vagina and its glands, and the opening of the urethra and of the vagina" [MGI:anna] subset: Sanger_Terms synonym: "abnormal cunnus" EXACT [] synonym: "abnormal external female genital organs" EXACT [] synonym: "abnormal external female genitals" RELATED [] synonym: "abnormal organa genitalia feminina externa" RELATED [] synonym: "abnormal vulva morphology" EXACT [] synonym: "vulva dysplasia" EXACT [] synonym: "vulval defects" EXACT [] is_a: MP:0009208 ! abnormal female genitalia morphology [Term] id: MP:0003127 name: abnormal clitoris morphology def: "any structural anomaly of the small, erectile body located at the anterior end of the vulva" [ISBN:0-683-40008-8] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003128 name: splayed clitoris def: "flattened or spread out clitoris" [J:91491, MGI:smb] is_a: MP:0003127 ! abnormal clitoris morphology [Term] id: MP:0003129 name: persistent cloaca def: "the presence of a single external opening to which the urinary, digestive and reproductive tracts all connect" [MGI:smb] comment: Note that the term "urogenital sinus" may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal. synonym: "urogenital sinus" RELATED [] is_a: MP:0000516 ! abnormal renal/urinary system morphology is_a: MP:0003119 ! abnormal digestive system development is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0003130 name: anal atresia alt_id: Fyler:4402 alt_id: Fyler:4443 def: "congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal" [MGI:anna] subset: CvDC_Terms synonym: "atresia ani" EXACT [] synonym: "imperforate anus" EXACT [] synonym: "proctatresia" EXACT [] is_a: MP:0000492 ! abnormal rectum morphology is_a: MP:0005034 ! abnormal anus morphology [Term] id: MP:0003131 name: increased erythrocyte cell number def: "greater number of the cells that transport oxygen, red blood cells, per unit" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased definitive erythrocyte cell number" RELATED [] synonym: "increased erythrocyte count" EXACT [] is_a: MP:0001586 ! abnormal erythrocyte cell number is_a: MP:0011181 ! increased hematopoietic cell number [Term] id: MP:0003132 name: increased pre-B cell number def: "greater number of progenitor cells that form the B cell component of the immune system" [ISBN:0-8153-1691-7, MGI:smb] synonym: "increased number of pre-B cells" EXACT [] is_a: MP:0002403 ! abnormal pre-B cell morphology is_a: MP:0008214 ! increased immature B cell number [Term] id: MP:0003133 name: increased early pro-B cell number def: "greater number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain" [ISBN:0-8153-1691-7, MGI:smb] synonym: "increased number of early pro-B cells" EXACT [] is_a: MP:0005019 ! abnormal early pro-B cell is_a: MP:0008186 ! increased pro-B cell number [Term] id: MP:0003134 name: increased late pro-B cell number def: "greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain" [ISBN:0-8153-1691-7, MGI:smb] synonym: "increased number of late pro-B cells" EXACT [] is_a: MP:0005020 ! abnormal late pro-B cell is_a: MP:0008186 ! increased pro-B cell number [Term] id: MP:0003135 name: increased erythroid progenitor cell number def: "greater numbers of progenitors of the erythrocyte lineage" [CL:0000038, MGI:smb] synonym: "increased BFU-E number" RELATED [] synonym: "increased blast forming unit erythroid number" RELATED [] synonym: "increased burst forming unit erythroid number" RELATED [] synonym: "increased CFU-E number" RELATED [] synonym: "increased colony forming unit erythroid number" RELATED [] synonym: "increased erythroid precursors" EXACT [] synonym: "increased erythroid stem cell number" RELATED [] is_a: MP:0008801 ! abnormal erythroid progenitor cell morphology [Term] id: MP:0003136 name: yellow coat color def: "amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is increased compared to wild-type agouti" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0003137 name: abnormal impulse conducting system conduction def: "any functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart" [MESH:A07.541.409, MGI:hdene] synonym: "abnormal bundle of Kent conduction" EXACT [] synonym: "abnormal cardiac muscle conduction" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0003138 name: absent tympanic ring def: "missing the bony ring at the ear canal to which the tympanic membrane is attached" [J:46972, MGI:anna] is_a: MP:0000030 ! abnormal tympanic ring morphology [Term] id: MP:0003139 name: patent ductus arteriosus alt_id: Fyler:2100 def: "failure of the fetal connection between the aorta and pulmonary artery to close after birth" [MGI:smb] subset: CvDC_Terms synonym: "dominant ductus arteriosus" EXACT [] synonym: "patent arterial duct" EXACT [] synonym: "PDA" EXACT [] synonym: "persistent ductus arteriosus" EXACT [] is_a: MP:0000364 ! abnormal vascular regression is_a: MP:0010564 ! abnormal fetal ductus arteriosus morphology [Term] id: MP:0003140 name: dilated heart atrium def: "the luminal space of one or both of the upper chambers of the heart is increased in volume or area, usually with an increase of contained fluid" [MGI:smb] synonym: "atria dilation" EXACT [] synonym: "atrial dilation" EXACT [] synonym: "dilated atria" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0004937 ! dilated heart [Term] id: MP:0003141 name: cardiac fibrosis def: "formation of fibrous tissue within the heart often resulting from inflammation or injury" [MGI:smb] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0003142 name: anotia def: "congenital absence of one or both auricles of the ears" [MGI:anna, PMID:10471511] is_a: MP:0005579 ! absent outer ear [Term] id: MP:0003143 name: enlarged otoliths def: "increased average size of the crystalline calciferous particles adhering to the otolithic membrane" [MGI:anna, PMID:11152663] synonym: "enlarged ear crystals" EXACT [] synonym: "enlarged statoconia" EXACT [] synonym: "enlarged statoliths" EXACT [] synonym: "giant otoconia" EXACT [] is_a: MP:0002894 ! abnormal otolith morphology [Term] id: MP:0003144 name: decreased otolith number def: "reduced average number of the crystalline calciferous particles adhering to the otolithic membrane" [J:30611, MGI:anna] synonym: "decreased number of otoliths" EXACT [] synonym: "reduced number of otoconia" EXACT [] synonym: "reduced number of otoliths" EXACT [] synonym: "reduced otolith number" EXACT [] is_a: MP:0002894 ! abnormal otolith morphology [Term] id: MP:0003145 name: detached otolithic membrane def: "the otolithic (otoconial) membrane is abnormally detached from the underlying neuroepithelium" [MGI:anna] is_a: MP:0002895 ! abnormal otolithic membrane morphology [Term] id: MP:0003146 name: absent cochlear ganglion def: "absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [J:36834, MGI:anna] synonym: "absent cochlear ganglia" EXACT [] synonym: "absent spiral ganglion" EXACT [] is_a: MP:0002855 ! abnormal cochlear ganglion morphology [Term] id: MP:0003147 name: absent cochlea def: "absence or agenesis of the cochlea" [J:36834, J:46972, MGI:anna, PMID:1680563] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003148 name: decreased cochlear coiling def: "a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns" [J:56294, MGI:anna] synonym: "reduced cochlear coiling" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003149 name: abnormal tectorial membrane morphology def: "any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [J:77634, MGI:anna] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0003150 name: detached tectorial membrane def: "tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus" [J:77634, MGI:anna] is_a: MP:0003149 ! abnormal tectorial membrane morphology [Term] id: MP:0003151 name: absent tunnel of Corti def: "complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti" [J:32991, MGI:anna] is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0003152 name: abnormal pillar cell differentiation def: "abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti" [J:32991, MGI:anna] is_a: MP:0003825 ! abnormal pillar cell morphology is_a: MP:0008304 ! abnormal organ of Corti supporting cell differentiation [Term] id: MP:0003153 name: early eyelid opening def: "early average time for the first postnatal eye opening" [J:92240, MGI:smb] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. is_a: MP:0004874 ! abnormal timing of postnatal eyelid opening [Term] id: MP:0003154 name: abnormal soft palate morphology def: "any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult" [MGI:smb] synonym: "abnormal velum" EXACT [] synonym: "abnormal velum palatinum" EXACT [] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003155 name: abnormal telomere length def: "abnormal length of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration; normal length is a few hundred base pairs" [MGI:csmith, MGI:hdene] is_a: MP:0010207 ! abnormal telomere morphology [Term] id: MP:0003156 name: abnormal leukocyte migration def: "altered ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV" [GO:0050900, MGI:acv] synonym: "abnormal leucocyte migration" EXACT [] synonym: "abnormal leucocyte trafficking" EXACT [] synonym: "abnormal leukocyte homing" NARROW [] synonym: "abnormal leukocyte trafficking" EXACT [] synonym: "abnormal lymphocyte migration/homing" NARROW [] is_a: MP:0002442 ! abnormal leukocyte physiology is_a: MP:0003091 ! abnormal cell migration [Term] id: MP:0003157 name: impaired muscle relaxation def: "reduced or absent ability of muscle to lengthen following contractions" [J:92510, MGI:smb] synonym: "myotonia" RELATED [] is_a: MP:0004036 ! abnormal muscle relaxation [Term] id: MP:0003158 name: dysphagia def: "difficulty in swallowing food or liquid" [ISBN:0-683-40008-8] synonym: "impaired swallowing" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0003159 name: abnormal esophageal smooth muscle morphology def: "any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus" [MGI:smb] is_a: MP:0000467 ! abnormal esophagus morphology is_a: MP:0000767 ! abnormal smooth muscle morphology [Term] id: MP:0003160 name: abnormal esophageal development def: "aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:smb] is_a: MP:0000467 ! abnormal esophagus morphology is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0003161 name: absent lateral semicircular canal def: "absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance" [MGI:anna] is_a: MP:0000037 ! abnormal lateral semicircular canal morphology [Term] id: MP:0003162 name: decreased lateral semicircular canal size def: "small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance" [MGI:anna] synonym: "decreased size of lateral semicircular canal" EXACT [] synonym: "reduced size of lateral semicircular canal" EXACT [] is_a: MP:0000037 ! abnormal lateral semicircular canal morphology [Term] id: MP:0003163 name: absent posterior semicircular canal alt_id: MP:0003676 def: "absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [MGI:anna] synonym: "aplasia of posterior semicircular canal" EXACT [] is_a: MP:0002858 ! abnormal posterior semicircular canal morphology [Term] id: MP:0003164 name: decreased posterior semicircular canal size def: "small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8, MGI:anna] synonym: "decreased size of posterior semicircular canal" RELATED [] synonym: "reduced posterior semicircular canal size" EXACT [] synonym: "reduced size of posterior semicircular canal" EXACT [] is_a: MP:0002858 ! abnormal posterior semicircular canal morphology [Term] id: MP:0003165 name: absent superior semicircular canal def: "absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8] synonym: "absent anterior semicircular canal" EXACT [] is_a: MP:0003069 ! abnormal superior semicircular canal morphology [Term] id: MP:0003166 name: decreased superior semicircular canal size def: "small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8] synonym: "decreased size of superior semicircular canal" RELATED [] synonym: "reduced size of anterior semicircular canal" EXACT [] synonym: "reduced size of superior semicircular canal" EXACT [] is_a: MP:0003069 ! abnormal superior semicircular canal morphology [Term] id: MP:0003167 name: abnormal scala tympani morphology def: "any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina" [J:56294, MGI:anna] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003168 name: abnormal scala vestibuli morphology def: "any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane" [MGI:anna] synonym: "abnormal perilymphatic space" EXACT [] synonym: "abnormal vestibular canal" EXACT [] synonym: "abnormal vestibular chamber" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003169 name: abnormal scala media morphology def: "any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing)" [J:46972, MGI:anna, PMID:1680563] synonym: "abnormal cochlear chamber" EXACT [] synonym: "abnormal cochlear duct morphology" EXACT [] synonym: "abnormal Lowenberg scala" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology is_a: MP:0004426 ! abnormal cochlear labyrinth morphology [Term] id: MP:0003171 name: phenotypic reversion def: "reverse mutation to wild-type genotype and phenotype from a previously characterized mutant phenotype" [MGI:llw2] synonym: "phenotypic instability" EXACT [] synonym: "revertant" EXACT [] is_a: MP:0002873 ! normal phenotype [Term] id: MP:0003172 name: abnormal lysosome physiology def: "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [MGI:llw2] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003173 name: decreased lysosomal enzyme secretion def: "production or release of glycoprotein hydrolytic enzymes is decreased compared to normal" [MGI:llw2] synonym: "reduced lysosomal enzyme secretion" EXACT [] is_a: MP:0003172 ! abnormal lysosome physiology [Term] id: MP:0003174 name: increased lysosomal enzyme secretion def: "production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal" [MGI:llw2] is_a: MP:0003172 ! abnormal lysosome physiology [Term] id: MP:0003175 name: reversion by mitotic recombination def: "cross-over event between sequences containing mutant and wild-type alleles during DNA replication in a heterozygote resulting in cells with two wild-type alleles" [MGI:llw2] is_a: MP:0003171 ! phenotypic reversion [Term] id: MP:0003176 name: reversion by viral sequence excision def: "restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype" [MGI:llw2] is_a: MP:0003171 ! phenotypic reversion [Term] id: MP:0003177 name: allodynia def: "condition in which nonpainful stimuli evoke a pain sensation" [ISBN:0-683-40008-8] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0003178 name: left pulmonary isomerism def: "anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the left side of the body" [MGI:smb] is_a: MP:0000542 ! left-sided isomerism is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010853 ! abnormal lung position or orientation [Term] id: MP:0003179 name: decreased platelet cell number alt_id: MP:0002749 def: "fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation" [J:93052, MGI:csmith, MGI:hdene] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased platelet count" RELATED [] synonym: "decreased thrombocyte number" EXACT [] synonym: "reduced platelet count" EXACT [] synonym: "thrombocytopenia" EXACT [] synonym: "thrombopenia" EXACT [] is_a: MP:0004720 ! abnormal platelet morphology is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0003180 name: abnormal pulmonary endothelial cell surface def: "altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell" [RGD:cur] is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0004007 ! abnormal lung vasculature morphology is_a: MP:0006055 ! abnormal vascular endothelial cell morphology [Term] id: MP:0003181 name: increased pulmonary endothelial cell surface def: "increased total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell" [RGD:cur] is_a: MP:0003180 ! abnormal pulmonary endothelial cell surface [Term] id: MP:0003182 name: decreased pulmonary endothelial cell surface def: "reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell" [RGD:cur] synonym: "reduced pulmonary endothelial cell surface" EXACT [] is_a: MP:0003180 ! abnormal pulmonary endothelial cell surface [Term] id: MP:0003183 name: abnormal peptide metabolism def: "anomaly in the biochemical modification and homeostasis of molecules consisting of linked amino acids and their derivatives" [RGD:cur] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003184 name: increased angiotensin I-converting enzyme activity def: "greater activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin" [RGD:cur] synonym: "increased ACE activity" EXACT [] is_a: MP:0003183 ! abnormal peptide metabolism [Term] id: MP:0003185 name: decreased angiotensin I-converting enzyme activity def: "reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin" [RGD:cur] synonym: "decreased ACE activity" EXACT [] synonym: "reduced angiotensin I-converting enzyme activity" EXACT [] is_a: MP:0003183 ! abnormal peptide metabolism [Term] id: MP:0003186 name: abnormal redox activity def: "defect in the processes that maintain the redox environment of a cell or compartment within a cell" [MGI:csmith] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003187 name: increased reduction def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0003188 name: decreased reduction def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0003189 name: fused joints def: "partial or complete absence of a functional articulation point of two or more bones" [MGI:csmith] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0003190 name: fused synovial joints def: "partial or complete absence of separations containing synovial fluid between bones" [MGI:smb] is_a: MP:0003189 ! fused joints [Term] id: MP:0003191 name: abnormal cellular cholesterol metabolism def: "impaired regulation of cellular cholesterol levels" [MGI:csmith] is_a: MP:0005266 ! abnormal metabolism is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003192 name: increased cholesterol efflux def: "greater level of removal of excess cholesterol from cells by an active transport pathway" [MGI:csmith, RGD:cur] is_a: MP:0003191 ! abnormal cellular cholesterol metabolism [Term] id: MP:0003193 name: decreased cholesterol efflux def: "reduced level of removal of excess cholesterol from cells by an active transport pathway" [MGI:csmith, RGD:cur] synonym: "reduced cholesterol efflux" EXACT [] is_a: MP:0003191 ! abnormal cellular cholesterol metabolism [Term] id: MP:0003194 name: abnormal frequency of paradoxical sleep def: "abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity" [MGI:csmith, RGD:cur] synonym: "abnormal frequency of REM sleep" EXACT [] is_a: MP:0001501 ! abnormal sleep pattern [Term] id: MP:0003195 name: calcinosis def: "pathologic deposition of calcium salts in tissues" [MESH:C18.452.174.130, RGD:cur] is_a: MP:0002168 ! other aberrant phenotype [Term] id: MP:0003196 name: calcified skin def: "pathologic deposition of calcium salts in the skin" [RGD:cur] synonym: "skin calcification" BROAD [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0003197 name: nephrocalcinosis def: "diffusely scattered foci of calcification in the renal parenchyma, with microscopic or macroscopic deposits of calcium salts" [MESH:C12.777.419.590, RGD:cur] synonym: "calcified kidney" EXACT [] synonym: "kidney calcification" BROAD [] synonym: "renal calcification" BROAD [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003198 name: calcified tendon def: "pathologic deposition of calcium salts in the tendons" [RGD:cur] synonym: "tendon calcification" BROAD [] is_a: MP:0005503 ! abnormal tendon morphology [Term] id: MP:0003199 name: calcified muscle def: "pathologic deposition of calcium salts in muscle" [RGD:cur] synonym: "muscle calcification" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0003200 name: calcified joint def: "pathologic deposition of calcium salts in the joints" [RGD:cur] synonym: "joint calcification" BROAD [] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0003201 name: extremity edema def: "an accumulation of serous fluid in the limbs, paws and tail" [RGD:cur] is_a: MP:0001785 ! edema [Term] id: MP:0003202 name: abnormal neuron apoptosis def: "change in the timing or the number of neurons undergoing programmed cell death" [MGI:csmith] synonym: "abnormal neuronal apoptosis" EXACT [] synonym: "abnormal neuronal cell death" RELATED [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0004811 ! abnormal neuron physiology [Term] id: MP:0003203 name: increased neuron apoptosis def: "increase in the number of neurons undergoing programmed cell death" [RGD:cur] synonym: "increased neuronal apoptosis" EXACT [] synonym: "increased neuronal cell death" EXACT [] is_a: MP:0003202 ! abnormal neuron apoptosis is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0003204 name: decreased neuron apoptosis def: "decrease in the number of neurons undergoing programmed cell death" [RGD:cur] synonym: "decreased neuronal apoptosis" EXACT [] synonym: "decreased neuronal cell death" RELATED [] synonym: "reduced neuronal apoptosis" EXACT [] synonym: "reduced neuronal cell death" RELATED [] is_a: MP:0003202 ! abnormal neuron apoptosis is_a: MP:0006043 ! decreased apoptosis [Term] id: MP:0003205 name: testicular atrophy def: "acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith, RGD:cur] synonym: "testis atrophy" EXACT [] is_a: MP:0001147 ! small testis [Term] id: MP:0003207 name: decreased cellular sensitivity to gamma-irradiation def: "decreased incidence of cell death following exposure to high levels of gamma-irradiation" [MGI:smb] synonym: "decreased cellular susceptibility to gamma-irradiation" EXACT [] synonym: "increased cellular resistance to gamma-irradiation" EXACT [] synonym: "reduced cellular sensitivity to gamma-irradiation" EXACT [] is_a: MP:0004228 ! decreased cellular sensitivity to ionizing radiation [Term] id: MP:0003208 name: abnormal neuromere morphology def: "any structural anomaly of the segments of the developing neural tube" [MGI:smb] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0003209 name: abnormal pulmonary elastic fiber morphology def: "any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0003210 name: abnormal heart elastic fiber morphology def: "any structural anomaly of the slender connective tissue fiber in cardiac tissue characterized by great elasticity" [ISBN:0-683-40008-8, RGD:cur] synonym: "abnormal cardiac elastic fiber morphology" EXACT [] is_a: MP:0009863 ! abnormal heart elastic tissue morphology [Term] id: MP:0003211 name: abnormal aorta elastic fiber morphology def: "any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0009862 ! abnormal aorta elastic tissue morphology [Term] id: MP:0003212 name: increased susceptibility to age related obesity def: "increased probability of excessive weight gain that is progressive with age" [RGD:cur] synonym: "decreased resistance to age related obesity" EXACT [] is_a: MP:0005455 ! increased susceptibility to weight gain [Term] id: MP:0003213 name: decreased susceptibility to age related obesity def: "reduced probability of excessive weight gain that is progressive with age" [RGD:cur] synonym: "increased resistance to age related obesity" EXACT [] is_a: MP:0010182 ! decreased susceptibility to weight gain [Term] id: MP:0003214 name: neurofibrillary tangles def: "dense intraneuronal accumulations of helical filaments (neurofilaments and microtubules) that assume twisted contorted patterns; found in subclasses of cells of the neocortex, hippocampus, brain stem, and diencephalon in individuals with Alzheimer disease and other tauopathies" [ISBN:0-683-40008-8, MESH:A08.663.609.520, RGD:cur] synonym: "neuritic plaques" RELATED [] synonym: "senile plaques" RELATED [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0003215 name: renal interstitial fibrosis def: "formation of fibrous tissue within the functional space in the kidney beneath the individual filters (glomeruli) as a result of repair or a reactive process" [RGD:cur] is_a: MP:0003985 ! renal fibrosis is_a: MP:0011425 ! abnormal kidney interstitium morphology [Term] id: MP:0003216 name: absence seizures def: "impairment of consciousness without convulsions associated with sudden behavioral arrest and widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG)" [PMID:16725200, RGD:cur] synonym: "absence epilepsy" EXACT [] synonym: "spike wave seizures" EXACT [] synonym: "spike-wave seizures" EXACT [] is_a: MP:0000948 ! nonconvulsive seizures [Term] id: MP:0003217 name: increased spike-wave discharge type I def: "increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than spike-wave discharge type II" [RGD:cur] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003218 name: decreased spike-wave discharge type I def: "decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than Spike-wave discharge type II" [RGD:cur] synonym: "reduced spike-wave discharge type I" EXACT [] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003219 name: increased spike-wave discharge type II def: "increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I" [RGD:cur] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003220 name: decreased spike-wave discharge type II def: "decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I" [RGD:cur] synonym: "reduced spike-wave discharge type II" EXACT [] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003221 name: abnormal cardiomyocyte apoptosis def: "change in the timing or the number of cardiac muscle cells undergoing programmed cell death" [RGD:cur] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002106 ! abnormal muscle physiology is_a: MP:0004215 ! abnormal myocardial fiber physiology [Term] id: MP:0003222 name: increased cardiomyocyte apoptosis def: "increase in the number of cardiac muscle cells undergoing programmed cell death" [RGD:cur] is_a: MP:0003221 ! abnormal cardiomyocyte apoptosis is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0003223 name: decreased cardiomyocyte apoptosis def: "decrease in the number of cardiac muscle cells undergoing programmed cell death" [RGD:cur] synonym: "reduced cardiomyocyte apoptosis" EXACT [] is_a: MP:0003221 ! abnormal cardiomyocyte apoptosis is_a: MP:0006043 ! decreased apoptosis [Term] id: MP:0003224 name: neuron degeneration def: "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses" [ISBN:0-683-40008-8] is_a: MP:0002229 ! neurodegeneration is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003225 name: axonal dystrophy def: "axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism" [RGD:cur] is_a: MP:0005405 ! axon degeneration [Term] id: MP:0003226 name: absent modiolus def: "absence of the central conical bony pillar of the cochlea" [J:82307, MGI:anna] is_a: MP:0003309 ! abnormal modiolus morphology [Term] id: MP:0003227 name: abnormal vascular branching morphogenesis def: "increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels" [MGI:smb] is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0003228 name: abnormal sinus venosus morphology def: "any structural anomaly of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava" [MGI:smb] synonym: "abnormal sinus venosus" BROAD [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0003229 name: abnormal vitelline vasculature morphology def: "any structural anomaly of the vascular network that supplies the yolk sac" [MGI:csmith] synonym: "abnormal omphalomesenteric vasculature" EXACT [] synonym: "abnormal yolk sac vasculature" EXACT [] is_a: MP:0000259 ! abnormal vascular development is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0003230 name: abnormal umbilical artery morphology def: "any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001725 ! abnormal umbilical cord morphology is_a: MP:0003410 ! abnormal artery development [Term] id: MP:0003231 name: abnormal placenta vasculature def: "any structural anomaly of the vessels of the placenta" [MGI:smb] synonym: "abnormal placental vasculature" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0003232 name: abnormal forebrain development def: "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, MGI:smb] is_a: MP:0000783 ! abnormal forebrain morphology is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0003233 name: prolonged QT interval def: "increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave" [MGI:smb, PMID:12114851] comment: A prolonged QT interval is a risk factor for ventricular tachyarrhythmias and sudden death. It varies with heart rate and for clinical relevance requires a correction for this, giving the QTc. synonym: "increased QT interval" EXACT [] synonym: "long QT syndrome" RELATED [] synonym: "widened QT interval" EXACT [] is_a: MP:0003899 ! abnormal QT interval [Term] id: MP:0003234 name: enhanced NMDA-mediated synaptic currents def: "increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors" [MGI:csmith] is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0003235 name: abnormal alisphenoid bone morphology def: "any structural anomaly of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young" [ISBN:0-683-40008-8, MGI:smb] synonym: "abnormal great wing of the sphenoid bone" EXACT [] synonym: "abnormal greater wing of the sphenoid bone " EXACT [] is_a: MP:0000104 ! abnormal sphenoid bone morphology [Term] id: MP:0003236 name: abnormal lens capsule morphology def: "any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens" [MGI:smb, PMID:15483628] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003237 name: abnormal lens epithelium morphology def: "any structural anomaly in the one or more of the layers of epithelial cells in the lens" [J:93301, MGI:smb] subset: Sanger_Terms is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003238 name: slow REM def: "decreased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place" [RGD:cur] synonym: "slow rapid eye movement" EXACT [] is_a: MP:0001501 ! abnormal sleep pattern [Term] id: MP:0003239 name: fast REM def: "increased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place" [RGD:cur] synonym: "fast rapid eye movement" EXACT [] is_a: MP:0001501 ! abnormal sleep pattern [Term] id: MP:0003240 name: loss of hippocampal neurons def: "loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0009939 ! abnormal hippocampus neuron morphology [Term] id: MP:0003241 name: loss of cortex neurons def: "loss of neurons in the cortex region of the brain, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0003242 name: loss of basal ganglia neurons def: "loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0003243 name: abnormal dopaminergic neuron morphology def: "any structural anomaly of the neurons that utilize dopamine as a neurotransmitter" [ISBN:0838580343] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003244 name: loss of dopaminergic neurons def: "loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0003243 ! abnormal dopaminergic neuron morphology [Term] id: MP:0003245 name: abnormal GABAergic neuron morphology def: "any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter" [ISBN:0838580343] synonym: "abnormal GABA neuron morphology" RELATED [] synonym: "abnormal GABA neurons" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003246 name: loss of GABAergic neurons def: "loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event" [RGD:cur] synonym: "loss of GABA neurons" EXACT [] is_a: MP:0003245 ! abnormal GABAergic neuron morphology [Term] id: MP:0003247 name: abnormal glutaminergic neuron morphology def: "any structural anomaly of the neurons that utilize glutamate as a neurotransmitter" [ISBN:0838580343] synonym: "abnormal glutamatergic neuron morphology" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003248 name: loss of glutamate neurons def: "loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0003247 ! abnormal glutaminergic neuron morphology [Term] id: MP:0003249 name: increased muscle free fatty acid level def: "greater than normal muscle concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues" [ISBN:0-683-40008-8, RGD:cur] synonym: "elevated muscle free fatty acid (FFA)" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology is_a: MP:0005281 ! increased fatty acid level is_a: MP:0010358 ! abnormal free fatty acids level [Term] id: MP:0003250 name: absent gallbladder def: "absence of the organ which serves as a storage reservoir for bile" [ISBN:0-683-40008-8, NCBI:matt] synonym: "absent cholecyst" EXACT [] synonym: "absent gall bladder" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0003251 name: gallbladder inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder" [ISBN:0-683-40008-8, NCBI:matt] synonym: "gall bladder inflammation" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005085 ! abnormal gallbladder physiology [Term] id: MP:0003252 name: abnormal bile duct physiology def: "any functional anomaly of the channels that secrete bile from the liver to the gall bladder and intestines" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0002139 ! abnormal hepatobiliary system physiology [Term] id: MP:0003253 name: dilated bile duct def: "the luminal space of the bile ducts is increased in volume or area, usually with an increase in contained fluid or bile" [MGI:csmith, NCBI:matt] synonym: "bile duct dilation" EXACT [] is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0003254 name: bile duct inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the bile ducts" [ISBN:0-683-40008-8, NCBI:matt] synonym: "cholangitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0003255 name: bile duct proliferation def: "the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease" [NCBI:matt] is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0003256 name: biliary cirrhosis def: "liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts" [MESH:C06.130.120.135.250.250, NCBI:matt] is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0003257 name: abnormal abdominal wall morphology def: "any structural anomaly of the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum" [MESH:A01.047.050, NCBI:matt] is_a: MP:0003385 ! abnormal body wall morphology [Term] id: MP:0003258 name: hiatal hernia def: "protrusion of abdominal structures through the esophageal hiatus of the diaphragm" [ISBN:0-683-40008-8, MESH:C23.300.707.500.467, NCBI:matt] is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0003259 name: nausea def: "gastric discomfort associated with the inclination to vomit" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0003260 name: vomiting def: "the retrograde expulsion of gastric contents through the oral cavity" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0003261 name: hematemesis def: "vomiting of blood; indicative of bleeding in the upper gastrointestinal tract" [MESH:C06.405.227.400, NCBI:matt] synonym: "vomiting blood" EXACT [] is_a: MP:0003260 ! vomiting [Term] id: MP:0003262 name: intestinal/bowel diverticulum def: "a pouch or sac protruding from the intestinal or bowel wall" [NCBI:matt] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0003263 name: abnormal cholesterol biosynthesis def: "OBSOLETE. altered ability to form cholesterol from constituent compounds" [NCBI:matt] is_obsolete: true [Term] id: MP:0003264 name: increased cholesterol biosynthesis def: "OBSOLETE. augmented rate at which cholesterol is formed from constituent compounds" [NCBI:matt] is_obsolete: true [Term] id: MP:0003265 name: decreased cholesterol biosynthesis def: "OBSOLETE. reduced rate at which cholesterol is formed from constituent compounds" [NCBI:matt] is_obsolete: true [Term] id: MP:0003266 name: biliary cyst def: "the appearance of fluid-filled sacs within the bile ducts" [NCBI:matt] synonym: "choledochal cyst" EXACT [] synonym: "choledochocele" EXACT [] synonym: "common bile duct cyst" EXACT [] is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0003267 name: constipation def: "incomplete, infrequent or difficult evacuation of fecal matter" [MESH:C23.888.821.150, NCBI:matt] subset: Europhenome_Terms is_a: MP:0003866 ! abnormal defecation [Term] id: MP:0003268 name: chronic constipation def: "prolonged or long-term difficulty in evacuation of fecal matter" [MESH:C23.888.821.150, NCBI:matt] is_a: MP:0003267 ! constipation [Term] id: MP:0003269 name: colon polyps def: "abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon" [MESH:C23.300.825.411.235, NCBI:matt] synonym: "colonic polyps" EXACT [] is_a: MP:0000495 ! abnormal colon morphology is_a: MP:0008011 ! intestine polyps [Term] id: MP:0003270 name: intestinal obstruction def: "any impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus" [MESH:C06.405.469.531, NCBI:matt] is_a: MP:0011082 ! abnormal gastrointestinal motility [Term] id: MP:0003271 name: abnormal duodenum morphology def: "any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum" [MESH:A03.556.124.684.124] is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0003272 name: duodenal atresia alt_id: Fyler:4406 def: "congenital blockage or absence of the lumen of the duodenum" [MESH:C06.198.719, NCBI:matt] subset: CvDC_Terms is_a: MP:0003271 ! abnormal duodenum morphology [Term] id: MP:0003273 name: duodenal ulcer def: "a lesion on the mucosal surface of the duodenum, usually produced by the sloughing of inflammatory necrotic tissue" [MESH:C23.550.891, NCBI:matt] synonym: "Curling ulcer" EXACT [] is_a: MP:0003271 ! abnormal duodenum morphology is_a: MP:0003301 ! peptic ulcer [Term] id: MP:0003274 name: intestinal microaneurysm def: "focal dilation of arteriocapillary junctions in the intestine" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0000477 ! abnormal intestine morphology is_a: MP:0003279 ! aneurysm [Term] id: MP:0003275 name: gastric microaneurysm def: "focal dilation of arteriocapillary junctions in the stomach" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0000470 ! abnormal stomach morphology is_a: MP:0003279 ! aneurysm [Term] id: MP:0003276 name: esophageal atresia alt_id: Fyler:4412 def: "congenital blockage or absence of the lumen of the esophagus" [MESH:C06.198.330, NCBI:matt] subset: CvDC_Terms synonym: "esophageal narrowing" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0003277 name: esophageal papilloma def: "benign epithelial tumor of the esophagus" [NCBI:matt] is_a: MP:0002014 ! increased papilloma incidence is_a: MP:0010292 ! increased alimentary system tumor incidence [Term] id: MP:0003278 name: esophageal inflammation def: "local accumulation of fluid, plasma proteins and leukocytes in the esophagus" [NCBI:matt] synonym: "esophagitis" EXACT [] synonym: "inflammation of esophagus" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0003279 name: aneurysm alt_id: Fyler:2399 def: "a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle" [ISBN:0-683-40008-8, MESH:C14.907.055, NCBI:matt] subset: CvDC_Terms is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0003280 name: urinary incontinence def: "inability to control the urinary excretory functions" [NCBI:matt] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0003281 name: fecal incontinence def: "inability to control the anal sphincter resulting in the involuntary passage of feces" [MESH:C06.405.469.860.300, NCBI:matt] is_a: MP:0003866 ! abnormal defecation [Term] id: MP:0003282 name: gastric ulcer def: "a lesion on the mucosal surface of the stomach, usually produced by the sloughing of inflammatory necrotic tissue" [MESH:C06.405.608.849, NCBI:matt] is_a: MP:0003301 ! peptic ulcer is_a: MP:0010792 ! abnormal stomach mucosa morphology [Term] id: MP:0003283 name: abnormal digestive organ placement def: "different location or arrangement of any of the alimentary tract organs" [NCBI:matt] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003284 name: abnormal large intestine placement def: "different location or arrangement of the large intestinal tract" [NCBI:matt] is_a: MP:0000489 ! abnormal large intestine morphology is_a: MP:0003283 ! abnormal digestive organ placement [Term] id: MP:0003285 name: gastric hypertrophy def: "increase in the bulk size of the stomach due to cell enlargement or accumulation of fluids" [NCBI:matt] is_a: MP:0003883 ! enlarged stomach [Term] id: MP:0003286 name: gastroesophageal reflux def: "retrograde movement of gastric contents into the esophagus" [MESH:C06.405.117.119.500.484, NCBI:matt] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0010154 ! abnormal gastroesophageal sphincter physiology [Term] id: MP:0003287 name: intestinal hemangioma def: "a benign tumor of the intestine, originating from the overgrowth of blood vessels" [NCBI:matt] synonym: "intestinal angioma" EXACT [] is_a: MP:0002947 ! hemangioma is_a: MP:0010279 ! increased gastrointestinal tumor incidence [Term] id: MP:0003288 name: intestinal edema def: "an accumulation of an excessive amount of serous fluid in the intestine or intestinal cells" [NCBI:matt] is_a: MP:0001785 ! edema is_a: MP:0010155 ! abnormal intestine physiology [Term] id: MP:0003289 name: abnormal intestinal peristalsis def: "altered intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0011082 ! abnormal gastrointestinal motility [Term] id: MP:0003290 name: intestinal hypoperistalsis def: "reduced intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward" [ISBN:0-683-40008-8, NCBI:matt] synonym: "hypanakinesia" EXACT [] synonym: "hypoperistalsis" BROAD [] is_a: MP:0003289 ! abnormal intestinal peristalsis [Term] id: MP:0003291 name: interstinal hyperperistalsis def: "increased intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward" [ISBN:0-683-40008-8, NCBI:matt] synonym: "hyperanakinesia" EXACT [] synonym: "hyperperistalsis" BROAD [] is_a: MP:0003289 ! abnormal intestinal peristalsis [Term] id: MP:0003292 name: melena def: "dark colored, foul-smelling feces due to the presence of blood" [ISBN:0-683-40008-8, NCBI:matt] synonym: "blood in feces" EXACT [] synonym: "melanorhhagia" EXACT [] synonym: "melanorrhea" EXACT [] is_a: MP:0003868 ! abnormal feces composition [Term] id: MP:0003293 name: rectal hemorrhage def: "bleeding in the rectum" [NCBI:matt] synonym: "rectal bleeding" EXACT [] is_a: MP:0000465 ! gastrointestinal hemorrhage [Term] id: MP:0003294 name: intussusception def: "telescoping of the intestine, or the prolapse of one part of the bowel to another; usually results in obstruction" [MESH:C06.405.469.531.577, NCBI:matt] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0003295 name: lymphomesenteric cysts def: "cystic mass in the abdominal mesenchyme containing lymph; sometimes becomes calcified" [NCBI:matt] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003296 name: microcolon def: "small, unused colon in neonates, usually due to atresia or other gastrointestinal blockage" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0000495 ! abnormal colon morphology [Term] id: MP:0003298 name: choking def: "spasm of the larynx and trachea due to prevention of respiration by compression or obstruction" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0003299 name: gastric polyps def: "abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach" [MESH:C23.300.825, NCBI:matt] synonym: "gastric polyposis" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology is_a: MP:0010352 ! gastrointestinal tract polyps [Term] id: MP:0003300 name: gastrointestinal ulcer def: "any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue" [NCBI:matt] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003301 name: peptic ulcer def: "any lesion on the mucosal surface of the portion of the alimentary tract that is exposed to gastric acid, usually in the stomach or the duodenum" [ISBN:0-683-40008-8, MESH:C06.405.469.275.800, NCBI:matt] synonym: "gastroduodenal ulcer" EXACT [] synonym: "marginal ulcer" EXACT [] is_a: MP:0003300 ! gastrointestinal ulcer [Term] id: MP:0003302 name: perirectal abscess def: "acute focal inflammation of the tissues surrounding the rectum, often with accumulation of purulent material" [NCBI:matt] is_a: MP:0000492 ! abnormal rectum morphology [Term] id: MP:0003303 name: peritoneal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the membrane that lines the abdominal cavity and covers most of the viscera" [ISBN:0-683-40008-8, NCBI:matt] synonym: "peritoneum inflammation" EXACT [] synonym: "peritonitis" RELATED [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0003304 name: large intestinal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the large intestine" [NCBI:matt] is_a: MP:0001858 ! intestinal inflammation [Term] id: MP:0003305 name: proctitis def: "local accumulation of fluid, plasma proteins, and leukocytes in the mucous membrane of the rectum" [MESH:C06.405.205.865, NCBI:matt] synonym: "rectitis" EXACT [] is_a: MP:0003304 ! large intestinal inflammation [Term] id: MP:0003306 name: small intestinal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the small intestine" [NCBI:matt] is_a: MP:0001858 ! intestinal inflammation [Term] id: MP:0003307 name: pyloric stenosis alt_id: Fyler:4444 def: "a narrowing of the gastric outlet of the stomach, often due to muscular hypertrophy or scarring from local inflammation" [ISBN:0-683-40008-8, NCBI:matt] subset: CvDC_Terms is_a: MP:0010785 ! abnormal stomach pyloric region morphology [Term] id: MP:0003308 name: abnormal cochlear sensory epithelium morphology def: "any structural anomaly of the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals" [MGI:csmith] synonym: "abnormal cochlear neuroepithelium" EXACT [] synonym: "abnormal inner ear neuroepithelium" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003309 name: abnormal modiolus morphology def: "any structural anomaly of the central cone shaped core of spongy bone about which turns the spiral canal" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003310 name: reduced modiolus def: "a reduction in the volume of the central conical bony pillar of the cochlea" [J:66787, MGI:anna] is_a: MP:0003309 ! abnormal modiolus morphology [Term] id: MP:0003311 name: aminoaciduria def: "excretion of amino acids in the urine, especially in excessive amounts" [MGI:anna] synonym: "hyperaminoaciduria" EXACT [] is_a: MP:0010028 ! aciduria is_a: MP:0011468 ! abnormal urine amino acid level [Term] id: MP:0003312 name: abnormal locomotor coordination def: "reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001392 ! abnormal locomotor behavior [Term] id: MP:0003313 name: abnormal locomotor activation def: "altered ability or desire of an animal to initiate locomotor activity" [MGI:csmith] subset: Europhenome_Terms is_a: MP:0001392 ! abnormal locomotor behavior [Term] id: MP:0003314 name: dysmetria def: "an inability to control the range of motion, typified by under- or over-shooting the intended position with the hand, arm, leg or eye" [MGI:smb] is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0003315 name: abnormal perineum morphology def: "any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm" [ISBN:0-683-40008-8, NCBI:matt] synonym: "perineum dysplasia" RELATED [] is_a: MP:0000462 ! abnormal digestive system morphology is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0003316 name: perineal fistula def: "an abnormal anatomical passage that connects the perineum to organs such as the bladder or the rectum" [MESH:C23.300.575, NCBI:matt] is_a: MP:0003315 ! abnormal perineum morphology [Term] id: MP:0003317 name: anoperineal fistula def: "an abnormal anatomical passage that connects the perineum to the anus" [NCBI:matt] synonym: "ano-perineal fistula" EXACT [] is_a: MP:0003316 ! perineal fistula is_a: MP:0005034 ! abnormal anus morphology [Term] id: MP:0003318 name: rectoperineal fistula def: "an abnormal anatomical passage that connects the perineum to the rectum" [MESH:C23.300.575, NCBI:matt] synonym: "recto-perineal fistula" EXACT [] synonym: "recto-peritoneal fistula" EXACT [] synonym: "rectoperitoneal fistula" EXACT [] is_a: MP:0000492 ! abnormal rectum morphology is_a: MP:0003316 ! perineal fistula [Term] id: MP:0003319 name: anal fistula def: "an abnormal anatomical passage at or near the anus that usually opens into the rectum above the internal sphincter" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0005034 ! abnormal anus morphology [Term] id: MP:0003320 name: rectovaginal fistula def: "an abnormal anatomical passage connecting the rectum and the vagina" [MESH:C06.267.550.600.650, NCBI:matt] synonym: "recto-vaginal fistula" EXACT [] is_a: MP:0000492 ! abnormal rectum morphology is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003321 name: tracheoesophageal fistula alt_id: Fyler:4202 alt_id: MP:0003117 def: "an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia" [MESH:C06.267.250.725, NCBI:matt] subset: CvDC_Terms synonym: "esophago-tracheal fistula" EXACT [] synonym: "esophagotracheal fistula" EXACT [] synonym: "impaired tracheal-esophageal septation" EXACT [] synonym: "tracheo-esophageal fistula" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology is_a: MP:0002282 ! abnormal trachea morphology [Term] id: MP:0003322 name: biliary fistula def: "an abnormal anatomical passage that connects any organ of the biliary tract and other organs" [MESH:C06.267.150, NCBI:matt] is_a: MP:0005083 ! abnormal biliary tract morphology [Term] id: MP:0003323 name: gastrocolic fistula def: "an abnormal anatomical passage between the stomach and the colon" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0000470 ! abnormal stomach morphology is_a: MP:0000495 ! abnormal colon morphology [Term] id: MP:0003324 name: increased liver adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the liver, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] synonym: "increased hepatocellular adenoma incidence" EXACT [] is_a: MP:0008019 ! increased liver tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0003325 name: decreased liver function def: "reduced normal function of this bile-secreting exocrine gland, which is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage" [NCBI:matt] synonym: "reduced hepatic function" EXACT [] synonym: "reduced liver function" EXACT [] is_a: MP:0000609 ! abnormal liver physiology [Term] id: MP:0003326 name: liver failure def: "cessation of function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage" [NCBI:matt] synonym: "hepatic failure" EXACT [] is_a: MP:0000609 ! abnormal liver physiology [Term] id: MP:0003327 name: liver cysts def: "abnormal membranous sacs in any portion of the liver" [NCBI:matt] synonym: "hepatic cysts" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003328 name: portal hypertension def: "elevation of blood pressure in the hepatic portal vein, often a result of cirrhosis or from obstruction of the portal vein" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000609 ! abnormal liver physiology is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0003329 name: amyloid beta deposits def: "formation of self-assembled aggregates of the cleaved App Abeta protein fragment; often seen in neurodegenerative disorders such as Alzheimer's disease" [MGI:csmith] synonym: "amyloid beta plaques" EXACT [] is_a: MP:0000604 ! amyloidosis is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0003330 name: abnormal auditory tube def: "anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment" [ISBN:0-683-40008-8] synonym: "abnormal Eustachian tube" EXACT [] synonym: "abnormal pharyngotympanic tube" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology [Term] id: MP:0003331 name: hepatocellular carcinoma alt_id: MP:0005510 def: "malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury" [NCBI:matt] synonym: "HCC" EXACT [] synonym: "liver neoplasia" BROAD [] synonym: "liver neoplasm" BROAD [] synonym: "malignant hepatoma" EXACT [] synonym: "neoplastic liver" BROAD [] is_a: MP:0002038 ! carcinoma is_a: MP:0008019 ! increased liver tumor incidence [Term] id: MP:0003332 name: liver abscess def: "collection of purulent exudate within the liver as a result of infection by bacteria, protozoa, or other agents" [NCBI:matt] synonym: "hepatic abscess" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003333 name: liver fibrosis def: "invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury" [MESH:C23.550.355, NCBI:matt] synonym: "hepatic fibrosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003334 name: pancreas fibrosis def: "invasion of fibrous connective tissue into the pancreas, often resulting from inflammation or injury" [MESH:C23.550.355, NCBI:matt] synonym: "pancreatic fibrosis" EXACT [] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0003335 name: exocrine pancreatic insufficiency def: "reduced or absent function of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0010148 ! abnormal exocrine pancreas physiology [Term] id: MP:0003336 name: pancreas cysts def: "the appearance of fluid-filled sacs within the pancreas" [NCBI:matt] synonym: "pancreatic cysts" EXACT [] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0003337 name: exocrine pancreas hyperplasia def: "overdevelopment or increased size of the portion of the pancreas that secretes digestive enzymes, usually due to an increased cell number" [MESH:A03.734.540, NCBI:matt] synonym: "exocrine pancreatic hyperplasia" EXACT [] synonym: "increased exocrine pancreas cellularity" RELATED [] is_a: MP:0005220 ! abnormal exocrine pancreas morphology is_a: MP:0009110 ! pancreas hyperplasia [Term] id: MP:0003338 name: pancreas lipomatosis def: "an accumulation of abnormally localized or tumor-like fat in the pancreas" [MESH:C17.800.463, NCBI:matt] synonym: "pancreatic lipomatosis" EXACT [] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0003339 name: decreased pancreatic beta cell number def: "fewer than normal number of the cells of the pancreas that secrete insulin" [MESH:A03.734.414.131, NCBI:matt] synonym: "decreased number of pancreatic beta cells" EXACT [] synonym: "reduced pancreatic beta cell number" EXACT [] is_a: MP:0005217 ! abnormal pancreatic beta cell morphology [Term] id: MP:0003340 name: acute pancreas inflammation def: "early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the pancreas; initiated by injury, infection, or local immune response" [NCBI:matt] is_a: MP:0001869 ! pancreas inflammation [Term] id: MP:0003341 name: chronic pancreas inflammation def: "persistent inflammatory response in the pancreas, often caused by persistent infection or during an autoimmune response" [NCBI:matt] is_a: MP:0001869 ! pancreas inflammation [Term] id: MP:0003342 name: accessory spleen alt_id: Fyler:4772 def: "the splenic tissue is divided into equal masses; often related to situs inversus" [ISBN:0-683-40008-8, NCBI:matt] subset: CvDC_Terms synonym: "polysplenia" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0003344 name: mammary gland hypoplasia def: "underdevelopment or reduced size of the mammary gland, usually due to a reduced number of cells" [NCBI:matt] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0003345 name: decreased rib number def: "fewer than normal numbers of the pairs of bony structures that make up the body wall" [ISBN:0-683-40008-8, NCBI:matt] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of ribs" EXACT [] synonym: "reduced rib number" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0003346 name: abnormal pectoral muscle morphology def: "any structural anomaly of the two muscles that make up the upper and fore part of the chest that adduct and rotate the arm and lift the ribs" [ISBN:0-683-40008-8, MESH:A02.633.567.775, NCBI:matt] synonym: "abnormal pectoralis muscle morphology" EXACT [MESH:A02.633.567.775] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0003347 name: hyperpituitarism def: "hypersecretion of adenohypophyseal hormones from the glandular, anterior portion of the pituitary; often due to a functional adenoma" [MESH:C10.228.140.617.738.250, NCBI:matt] synonym: "increased pituitary hormone secretion" EXACT [] is_a: MP:0001746 ! abnormal pituitary secretion [Term] id: MP:0003348 name: hypopituitarism def: "reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma" [MESH:C10.228.140.617.738.300, NCBI:matt] synonym: "pituitary insufficiency" EXACT [] synonym: "reduced pituitary hormone secretion" EXACT [] is_a: MP:0001746 ! abnormal pituitary secretion [Term] id: MP:0003349 name: abnormal circulating renin level def: "aberrant blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I" [MESH:D08.811.277.656.300.066.780, NCBI:matt] is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0003350 name: increased circulating levels of thyroid hormone def: "increased concentration of hormones in the blood that are synthesized and secreted by the thyroid" [NCBI:matt] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0005468 ! abnormal thyroid hormone level [Term] id: MP:0003351 name: decreased circulating levels of thyroid hormone def: "reduced concentration of hormones in the blood that are synthesized and secreted by the thyroid" [NCBI:matt] synonym: "reduced circulating levels of thyroid hormone" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0005468 ! abnormal thyroid hormone level [Term] id: MP:0003352 name: increased circulating renin level def: "elevated blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I" [MESH:D08.811.277.656.300.066.780, NCBI:matt] is_a: MP:0003349 ! abnormal circulating renin level [Term] id: MP:0003353 name: decreased circulating renin level def: "reduced blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I" [MESH:D08.811.277.656.300.066.780, NCBI:matt] synonym: "reduced circulating renin level" EXACT [] is_a: MP:0003349 ! abnormal circulating renin level [Term] id: MP:0003354 name: astrocytosis def: "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MESH:C23.550.369] synonym: "astrogliosis" EXACT [] is_a: MP:0002182 ! abnormal astrocyte morphology is_a: MP:0002183 ! gliosis [Term] id: MP:0003355 name: decreased ovulation rate def: "reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s)" [ISBN:0-683-40008-8, MGI:anna] synonym: "decreased ovulation frequency" EXACT [] synonym: "reduced ovulation" RELATED [] is_a: MP:0001928 ! abnormal ovulation [Term] id: MP:0003356 name: impaired luteinization def: "atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation" [J:43075, J:57854, MGI:anna] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0003357 name: impaired granulosa cell differentiation def: "atypical production of or inability to produce the supporting cells for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle" [MESH:A.05.360.319.114.630.535.200] is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0008868 ! abnormal granulosa cell morphology [Term] id: MP:0003358 name: abnormal hypaxial muscle morphology def: "any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue" [PMID:1591996] synonym: "abnormal limb muscle morphology" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0003359 name: hypaxial muscle hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue" [PMID:1591996] is_a: MP:0000734 ! muscle hypoplasia is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0003360 name: abnormal depression-related behavior def: "responses to a stressful situation or stimulus, or failure to seek pleasurable stimuli" [RGD:cur] is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0003361 name: abnormal circulating gonadotropin level def: "aberrant blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis" [MESH:D06.472.699.322] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0003362 name: increased circulating gonadotropin level def: "greater than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis" [MESH:D06.472.699.322, NCBI:matt] is_a: MP:0003361 ! abnormal circulating gonadotropin level [Term] id: MP:0003363 name: decreased circulating gonadotropin level def: "less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis" [MESH:D06.472.699.322, NCBI:matt] synonym: "reduced circulating gonadotropin level" EXACT [] is_a: MP:0003361 ! abnormal circulating gonadotropin level [Term] id: MP:0003364 name: increased insulinoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet beta cells, occurring in a specific population in a given time period; these tumors secrete excess insulin" [ISBN:0-683-40008-8, NCBI:matt] synonym: "increased beta-cell adenoma incidence" EXACT [] synonym: "increased beta-cell tumor incidence" EXACT [] synonym: "increased insuloma incidence" EXACT [] synonym: "increased pancreatic beta cell tumor incidence" EXACT [] is_a: MP:0003430 ! increased pancreatic islet cell adenoma incidence [Term] id: MP:0003365 name: increased glucagonoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet alpha cells, occurring in a specific population in a given time period; these tumors secrete excess glucagon" [MESH:C04.557.470.200.025.290.750, MGI:csmith, NCBI:matt] synonym: "increased alpha-cell adenoma incidence" EXACT [] synonym: "increased alpha-cell tumor incidence" EXACT [] is_a: MP:0003430 ! increased pancreatic islet cell adenoma incidence [Term] id: MP:0003366 name: abnormal circulating glucocorticoid level def: "aberrant blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0003367 name: increased circulating glucocorticoid level def: "greater than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity" [NCBI:matt] is_a: MP:0003366 ! abnormal circulating glucocorticoid level [Term] id: MP:0003368 name: decreased circulating glucocorticoid level def: "less than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity" [NCBI:matt] synonym: "reduced circulating glucocorticoid level" RELATED [] is_a: MP:0003366 ! abnormal circulating glucocorticoid level [Term] id: MP:0003369 name: abnormal circulating estrogen level def: "aberration in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0003370 name: increased circulating estrogen level def: "greater than normal blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics" [NCBI:matt] is_a: MP:0003369 ! abnormal circulating estrogen level [Term] id: MP:0003371 name: decreased circulating estrogen level def: "reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics" [NCBI:matt] synonym: "reduced circulating estrogen level" EXACT [] is_a: MP:0003369 ! abnormal circulating estrogen level [Term] id: MP:0003372 name: abnormal circulating mineralocorticoid level def: "aberrant blood concentration of corticosteroids that influence water and electrolyte metabolism and balance" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0003373 name: increased circulating mineralocorticoid level def: "greater than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003372 ! abnormal circulating mineralocorticoid level [Term] id: MP:0003374 name: decreased circulating mineralocorticoid level def: "less than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance" [ISBN:0-683-40008-8, NCBI:matt] synonym: "reduced circulating mineralocorticoid level" EXACT [] is_a: MP:0003372 ! abnormal circulating mineralocorticoid level [Term] id: MP:0003375 name: abnormal menstrual cycle def: "failure of or aberrant timing of a recurring cycle in human primates in which the endometrial lining of the uterus prepares for pregnancy and ovulation occurs; if pregnancy does not occur the lining is discharged at menstruation" [NCBI:matt] is_a: MP:0009344 ! abnormal ovulation cycle [Term] id: MP:0003376 name: amenorrhea def: "absence or abnormal cessation of the shedding of the endometrium and associated bleeding in primates" [MESH:C23.550.568.500, NCBI:matt] synonym: "absent menstruation" EXACT [] is_a: MP:0003375 ! abnormal menstrual cycle [Term] id: MP:0003377 name: late onset of menarche def: "the onset of menstrual cycles occurs at a later age than normal" [NCBI:matt] is_a: MP:0001938 ! delayed sexual maturation [Term] id: MP:0003378 name: early sexual maturation def: "pubertal changes occur at an earlier than normal age" [NCBI:matt] synonym: "early onset of sexual maturity" EXACT [] synonym: "precocious puberty" EXACT [] is_a: MP:0001937 ! abnormal sexual maturation [Term] id: MP:0003379 name: absent sexual maturation def: "failure to initiate pubertal changes that result in achievement of full sexual capacity" [NCBI:matt] is_a: MP:0001937 ! abnormal sexual maturation [Term] id: MP:0003380 name: abnormal intestine regeneration def: "deviation from the normal ability of the intestine to regenerate healthy tissue following injury or disease" [MGI:smb] is_a: MP:0010155 ! abnormal intestine physiology [Term] id: MP:0003381 name: vitreal fibroplasia def: "production of excess fibrous tissue in the vitreous body of the eye" [MGI:brs] synonym: "corpus vitreum fibroplasia" EXACT [] synonym: "hyaloid body fibroplasia" EXACT [] synonym: "vitreal body fibroplasia" EXACT [] synonym: "vitreous body fibroplasia" EXACT [] synonym: "vitreum fibroplasia" EXACT [] is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0003382 name: straub tail def: "condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment" [MGI:csmith] subset: Europhenome_Terms is_a: MP:0001391 ! abnormal tail movements [Term] id: MP:0003383 name: abnormal gluconeogenesis def: "anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat" [J:93896] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0003384 name: abnormal ventral body wall morphology def: "any structural anomaly of the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity" [MGI:csmith, MGI:monikat] synonym: "ventral body wall defects" EXACT [] is_a: MP:0003385 ! abnormal body wall morphology [Term] id: MP:0003385 name: abnormal body wall morphology def: "any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity" [MGI:csmith] is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0003386 name: increased sensitivity to nicotine def: "OBSOLETE. decreased threshold to obtain a physiological or behavioral response to nicotine" [MGI:csmith, MGI:smb] synonym: "decreased resistance to nicotine" EXACT [] synonym: "increased susceptibility to nicotine" EXACT [] synonym: "nicotine hypersensitivity" EXACT [] is_obsolete: true [Term] id: MP:0003387 name: aorta coarctation def: "a congenital focal constriction of the aorta most commonly found just distal to the origin of the left subclavian artery; the most commonly found form is juxtaductal coarctation, but it may occur at any point from the transverse arch to the iliac bifurcation" [http://emedicine.medscape.com, NCBI:matt] subset: CvDC_Terms synonym: "aortic coarctation" EXACT [] synonym: "coarctation of aorta" EXACT [] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0003388 name: absent pericardium alt_id: Fyler:1910 def: "absence of the fibroserous membrane covering the heart and beginning of the great vessels" [MGI:smb, NCBI:matt] subset: CvDC_Terms synonym: "absent pericardial sac" EXACT [] synonym: "pericardial agenesis" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0003389 name: constriction of pericardium def: "tightening of the pericardium around the heart" [MGI:smb, NCBI:matt] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0003390 name: lymphedema def: "abnormal swelling in the soft tissues of the limbs, or less often the trunk, caused by the buildup of lymph fluid" [MGI:smb, NCBI:matt] is_a: MP:0001785 ! edema [Term] id: MP:0003391 name: myxoma def: "a benign tumor composed of connective tissue embedded in mucus" [ISBN:0-8036-0655-99, MGI:smb] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0003392 name: atrial myxoma def: "a primary intracardiac tumor occurring in either the left or right atrium" [MGI:smb, NCBI:matt] is_a: MP:0003391 ! myxoma is_a: MP:0010291 ! increased cardiovascular system tumor incidence [Term] id: MP:0003393 name: decreased cardiac output def: "reduction in the blood volume pumped by each ventricle per minute" [MESH:E01.370.370.380.150, MGI:smb, NCBI:matt] synonym: "reduced cardiac output" EXACT [] is_a: MP:0001627 ! abnormal cardiac output [Term] id: MP:0003394 name: increased cardiac output def: "greater than normal blood volume pumped by each ventricle per minute" [MESH:E01.370.370.380.150, MGI:smb, NCBI:matt] is_a: MP:0001627 ! abnormal cardiac output [Term] id: MP:0003395 name: abnormal subclavian artery morphology def: "any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body" [MGI:smb, NCBI:matt] is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0003396 name: abnormal embryonic hematopoiesis def: "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans" [J:94136, MGI:smb] synonym: "abnormal primitive hematopoiesis" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology is_a: MP:0002429 ! abnormal blood cell morphology/development [Term] id: MP:0003397 name: increased muscle weight def: "greater than average muscle weight" [J:94134, MGI:smb] is_a: MP:0004233 ! abnormal muscle weight [Term] id: MP:0003398 name: increased skeletal muscle size def: "greater than average dimensions of one or more of the muscles of the skeleton" [J:94134, MGI:smb] is_a: MP:0004818 ! increased skeletal muscle mass is_a: MP:0009458 ! abnormal skeletal muscle size [Term] id: MP:0003400 name: kinked neural tube def: "twists or kinks in the embryonic neural tube" [J:66514, MGI:anna] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0003401 name: enlarged tail bud def: "increased size or area of the primordial region of the embryo that arises to form the tail of the adult" [MGI:anna] is_a: MP:0002861 ! abnormal tail bud morphology [Term] id: MP:0003402 name: decreased liver weight def: "reduced average weight of the bile-secreting exocrine gland" [MGI:csmith] synonym: "decreased hepatic weight" EXACT [] synonym: "reduced hepatic weight" EXACT [] synonym: "reduced liver weight" EXACT [] is_a: MP:0000601 ! small liver is_a: MP:0004847 ! abnormal liver weight [Term] id: MP:0003403 name: absent placental labyrinth def: "absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:anna] is_a: MP:0001716 ! abnormal placenta labyrinth morphology [Term] id: MP:0003404 name: absent enamel def: "absence of the hard outer coating of the exposed portion of the tooth" [ISBN:0-683-40008-8] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0003405 name: abnormal platelet shape def: "any anomaly in the characteristic surface outline or contour of the normal small, disk-like shape of blood plasma cells derived from megakaryocytes and which function to promote blood clotting" [MESH:A11.118.188] synonym: "abnormal thrombocyte shape" EXACT [] is_a: MP:0004720 ! abnormal platelet morphology [Term] id: MP:0003406 name: failure of zygotic cell division def: "inability of a fertilized oocyte to initiate or complete early cell divisions" [MGI:csmith] is_a: MP:0001730 ! embryonic growth arrest [Term] id: MP:0003407 name: abnormal central nervous system regeneration def: "changes in the ability or inability of healthy central nervous system tissue to regenerate following injury or disease" [MGI:csmith, MGI:smb] synonym: "abnormal CNS regeneration" EXACT [] is_a: MP:0004858 ! abnormal nervous system regeneration [Term] id: MP:0003408 name: increased width of hypertrophic chondrocyte zone def: "increased width of cartilage cell matrix layer" [ISBN:0-683-40008-8] is_a: MP:0000165 ! abnormal long bone hypertrophic chondrocyte zone [Term] id: MP:0003409 name: decreased width of hypertrophic chondrocyte zone def: "decreased width of cartilage cell matrix layer" [ISBN:0-683-40008-8] synonym: "reduced width of hypertrophic chondrocyte zone" EXACT [] is_a: MP:0000165 ! abnormal long bone hypertrophic chondrocyte zone [Term] id: MP:0003410 name: abnormal artery development def: "anomaly in the process of forming the blood vessels that carry blood away from the heart" [MESH:A07.231.114, MGI:smb] is_a: MP:0000260 ! abnormal angiogenesis is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0003411 name: abnormal vein development def: "anomaly in the process of forming the blood vessels that carry blood to the heart" [MGI:smb] is_a: MP:0000260 ! abnormal angiogenesis is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0003412 name: abnormal afterhyperpolarization def: "anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration" [MGI:smb, PMID:15190101] synonym: "abnormal AHP" EXACT [] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0003413 name: hair follicle degeneration def: "a retrogressive impairment of function or destruction of the hair follicle" [J:94517, MGI:monikat] subset: Sanger_Terms is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0003414 name: epidermal cyst def: "a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions" [ISBN:0-683-40008-8, MESH:C04.182.254, MGI:llw2, MGI:monikat] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0003415 name: priapism def: "prolonged penile erection, often painful and without sexual desire" [MESH:C12.294.494.786, MGI:smb] is_a: MP:0001379 ! abnormal penile erection [Term] id: MP:0003416 name: premature bone ossification def: "early onset of the formation of bone" [MGI:smb] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0003417 name: premature endochondral bone ossification def: "early onset of bone formation in bones that form from cartilage" [J:94631, MGI:smb] is_a: MP:0003416 ! premature bone ossification is_a: MP:0008272 ! abnormal endochondral bone ossification [Term] id: MP:0003418 name: premature intramembranous bone ossification def: "early onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle" [MGI:smb] is_a: MP:0003416 ! premature bone ossification is_a: MP:0008273 ! abnormal intramembranous bone ossification [Term] id: MP:0003419 name: delayed endochondral bone ossification def: "late onset of bone formation in bones that form from cartilage" [J:94631, MGI:smb] is_a: MP:0000060 ! delayed bone ossification is_a: MP:0008272 ! abnormal endochondral bone ossification [Term] id: MP:0003420 name: delayed intramembranous bone ossification def: "late onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle" [J:94631, MGI:smb] is_a: MP:0000060 ! delayed bone ossification is_a: MP:0008273 ! abnormal intramembranous bone ossification [Term] id: MP:0003421 name: abnormal thyroid gland development def: "failure or abnormality in the formation of the thyroid gland during organogenesis" [J:95017, MGI:smb] synonym: "abnormal thyroid development" RELATED [] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0003422 name: abnormal thrombolysis def: "altered ability to break up (lyse) blood clots that are restricting the blood flow" [J:17427, MGI:anna] is_a: MP:0002551 ! abnormal blood coagulation [Term] id: MP:0003423 name: reduced thrombolysis def: "reduced ability or inability to break up (lyse) blood clots that are restricting the blood flow" [J:17427, MGI:anna] is_a: MP:0003422 ! abnormal thrombolysis [Term] id: MP:0003424 name: premature neuronal precursor differentiation def: "earlier than normal transformation of neuronal precursor cells into neurons" [J:94391, MGI:smb] is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0003425 name: abnormal optic vesicle formation def: "anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [J:94391, MGI:smb] is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0003426 name: pulmonary interstitial fibrosis def: "formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process" [J:63134, MGI:anna] is_a: MP:0002276 ! abnormal lung interstitium morphology is_a: MP:0006050 ! pulmonary fibrosis [Term] id: MP:0003427 name: parakeratosis def: "thickening of the stratum corneum of the epidermis (hyperkeratosis) with nucleated keratinocytes retained in this layer" [ISBN:0-683-40008-8, MGI:csmith] subset: Sanger_Terms synonym: "parakeratotic hyperkeratosis" EXACT [] is_a: MP:0001242 ! hyperkeratosis [Term] id: MP:0003429 name: insensitivity to growth hormone def: "no growth response to exogenous growth hormone" [NCBI:matt] is_a: MP:0003638 ! abnormal response/metabolism to endogenous compounds [Term] id: MP:0003430 name: increased pancreatic islet cell adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the islet cells of the pancreas, occurring in a specific population in a given time period" [NCBI:matt] is_a: MP:0009043 ! increased pancreas adenoma incidence [Term] id: MP:0003431 name: abnormal parathyroid gland physiology def: "any functional anomaly of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [NCBI:matt] is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0003432 name: increased activity of parathyroid def: "increased function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [NCBI:matt] synonym: "hyperparathyroidism" EXACT [] is_a: MP:0003431 ! abnormal parathyroid gland physiology [Term] id: MP:0003433 name: decreased activity of parathyroid def: "reduced function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [NCBI:matt] synonym: "hypoparathyroidism" EXACT [] synonym: "reduced activity of parathyroid" EXACT [] is_a: MP:0003431 ! abnormal parathyroid gland physiology [Term] id: MP:0003434 name: decreased susceptibility to induced choroidal neovascularization def: "reduction or absence of growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma)" [MGI:anna] synonym: "increased resistance to induced choroidal neovascularization" EXACT [] is_a: MP:0005546 ! choroidal neovascularization [Term] id: MP:0003435 name: herniated seminal vesicle def: "protrusion of the seminal vesicles through the pelvic outlet" [J:73613, MGI:anna] synonym: "herniated seminal glands" EXACT [] synonym: "herniated seminal vesicles" EXACT [] is_a: MP:0002059 ! abnormal seminal vesicle morphology [Term] id: MP:0003436 name: decreased susceptibility to induced arthritis def: "less likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents" [J:75303, MGI:anna] synonym: "increased resistance to induced arthritis" EXACT [] is_a: MP:0002993 ! arthritis is_a: MP:0003079 ! decreased susceptibility to induced joint inflammation is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0003437 name: abnormal carotid body morphology def: "any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control" [ISBN:0-683-40008-8, MESH:A08.800.550.700.120.600.150, MGI:monikat] is_a: MP:0001001 ! abnormal chemoreceptor morphology is_a: MP:0004181 ! abnormal carotid artery morphology [Term] id: MP:0003438 name: abnormal carotid body physiology def: "any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control" [ISBN:0-683-40008-8, MESH:A08.800.550.700.120.600.150, MGI:monikat] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0010055 ! abnormal sensory neuron physiology [Term] id: MP:0003439 name: abnormal glycerol level def: "anomalous concentration of this molecule, the backbone of lipids, which is important for gluconeogenesis during starvation" [J:95278, MGI:smb] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0003440 name: decreased glycerol level def: "lower than normal concentration of glycerol" [MGI:smb] synonym: "reduced glycerol level" RELATED [] is_a: MP:0003439 ! abnormal glycerol level [Term] id: MP:0003441 name: increased glycerol level def: "higher than normal concentration of glycerol" [MGI:smb] is_a: MP:0003439 ! abnormal glycerol level [Term] id: MP:0003442 name: decreased circulating glycerol level def: "lower than normal concentration of glycerol in the blood" [MGI:smb] subset: Sanger_Terms synonym: "reduced circulating glycerol level" EXACT [] is_a: MP:0003440 ! decreased glycerol level is_a: MP:0003949 ! abnormal circulating lipid level [Term] id: MP:0003443 name: increased circulating glycerol level def: "higher than normal concentration of glycerol in the blood" [MGI:smb] subset: Sanger_Terms is_a: MP:0003441 ! increased glycerol level is_a: MP:0003949 ! abnormal circulating lipid level [Term] id: MP:0003444 name: abnormal neurotransmitter uptake def: "aberration in the reabsorbtion of endogenous signaling molecules released into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell" [GO:0007269, MGI:csmith] is_a: MP:0002204 ! abnormal neurotransmitter level [Term] id: MP:0003445 name: sirenomelia def: "fusion of the caudal-most (posterior or lower) limbs often with partial or complete fusion of the autopods" [J:67375] is_a: MP:0000556 ! abnormal hindlimb morphology is_a: MP:0001706 ! abnormal left-right axis patterning is_a: MP:0006279 ! abnormal limb development [Term] id: MP:0003446 name: renal hypoplasia def: "underdevelopment or reduced size of the kidney, usually due to a reduced number of cells" [MGI:llw2] synonym: "hypoplastic kidney" EXACT [] synonym: "kidney hypoplasia" EXACT [] is_a: MP:0002989 ! small kidney [Term] id: MP:0003447 name: decreased tumor growth/size def: "less than expected development of tumorous growth when compared to controls" [J:65383, MGI:anna] synonym: "reduced tumor growth/size" EXACT [] is_a: MP:0003448 ! altered tumor morphology [Term] id: MP:0003448 name: altered tumor morphology def: "any structural anomaly of a given tumor type compared to controls" [MGI:anna] synonym: "abnormal tumor morphology" EXACT [] synonym: "altered tumor characteristics" EXACT [] is_a: MP:0010639 ! altered tumor pathology [Term] id: MP:0003449 name: abnormal intestinal goblet cell morphology def: "any structural anomaly of a goblet cell that is part of the epithelium of intestinal villus" [CL:1000317] synonym: "abnormal intestinal goblet cells" BROAD [] is_a: MP:0000511 ! abnormal intestinal mucosa morphology [Term] id: MP:0003450 name: enlarged pancreas def: "increase of the size of the pancreas compared to controls" [MGI:csmith] is_a: MP:0009106 ! abnormal pancreas size [Term] id: MP:0003451 name: absent olfactory bulb def: "absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [ISBN:0-683-40008-8] is_a: MP:0000819 ! abnormal olfactory bulb morphology [Term] id: MP:0003452 name: abnormal parotid gland morphology def: "any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear" [MGI:smb] synonym: "abnormal external salivary gland morphology" EXACT [] synonym: "abnormal glandula parotidea morphology" EXACT [] synonym: "abnormal glandula parotis morphology" EXACT [] is_a: MP:0003792 ! abnormal major salivary gland morphology [Term] id: MP:0003453 name: abnormal keratinocyte physiology def: "abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [ISBN:0-683-40008-8, MGI:monikat] is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0003454 name: erythroderma def: "exfoliation and widespread, intense reddening of the skin due to inflammatory skin disease" [J:95549, MGI:smb] is_a: MP:0001194 ! dermatitis [Term] id: MP:0003455 name: decreased susceptibility to induced retinal damage def: "reduced or absent pathological changes in the retina due to chemical or mechanical agents" [J:93533, MGI:anna] synonym: "increased resistance to induced retinal damage" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0003456 name: absent tail alt_id: MP:0005080 def: "completely lacking the appendage at the caudal end of the vertebral column" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "tail less" EXACT [] synonym: "tailless" EXACT [] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0003457 name: abnormal circulating ketone body level def: "aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [ISBN:0-683-40008-8] comment: Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. is_a: MP:0002118 ! abnormal lipid homeostasis is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0003458 name: decreased circulating ketone body level def: "less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [ISBN:0-683-40008-8] comment: Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. synonym: "reduced circulating ketone body level" EXACT [] is_a: MP:0003457 ! abnormal circulating ketone body level [Term] id: MP:0003459 name: increased fear-related response def: "greater emotional response related to anticipation of specific pain or danger" [MGI:CFG] is_a: MP:0003106 ! abnormal fear-related response [Term] id: MP:0003460 name: decreased fear-related response def: "reduced emotional response related to anticipation of specific pain or danger" [MGI:CFG] synonym: "reduced fear-related response" EXACT [] is_a: MP:0003106 ! abnormal fear-related response [Term] id: MP:0003461 name: abnormal response to novel object def: "altered behavioral reaction associated with exposing an animal to a novel object" [MGI:CFG] subset: Europhenome_Terms is_a: MP:0003107 ! abnormal response to novelty [Term] id: MP:0003462 name: abnormal response to novel odor def: "altered behavioral reaction associated with exposing an animal to a novel odor" [MGI:CFG] is_a: MP:0003107 ! abnormal response to novelty [Term] id: MP:0003463 name: abnormal single cell response def: "altered values from controls obtained upon extra- or intracellular recordings from single cells" [MGI:Nmice] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0003464 name: abnormal single cell response threshold def: "any change in the value at which a stimulus first elicits a recordable response recorded in a single cell" [MGI:Nmice] is_a: MP:0003463 ! abnormal single cell response [Term] id: MP:0003465 name: increased single cell response threshold def: "increase in the value at which a stimulus first elicits a recordable response recorded in a single cell" [MGI:Nmice] is_a: MP:0003464 ! abnormal single cell response threshold [Term] id: MP:0003466 name: decreased single cell response threshold def: "reduction in the value at which a stimulus first elicits a recordable response recorded in a single cell" [MGI:Nmice] synonym: "reduced single cell response threshold" EXACT [] is_a: MP:0003464 ! abnormal single cell response threshold [Term] id: MP:0003467 name: abnormal single cell response intensity def: "any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell" [MGI:Nmice] is_a: MP:0003463 ! abnormal single cell response [Term] id: MP:0003468 name: increased single cell response intensity def: "increase in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell" [MGI:Nmice] is_a: MP:0003467 ! abnormal single cell response intensity [Term] id: MP:0003469 name: decreased single cell response intensity def: "reduction in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell" [MGI:Nmice] synonym: "reduced single cell response intensity" EXACT [] is_a: MP:0003467 ! abnormal single cell response intensity [Term] id: MP:0003470 name: abnormal summary potential def: "anomaly in the electrophysiological recording of the activity of several cells" [MGI:Nmice] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0003471 name: abnormal summary potential threshold def: "any change in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice" [MGI:Nmice] is_a: MP:0003470 ! abnormal summary potential [Term] id: MP:0003472 name: increased summary potential threshold def: "increase in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice" [MGI:Nmice] is_a: MP:0003471 ! abnormal summary potential threshold [Term] id: MP:0003473 name: decreased summary potential threshold def: "reduction in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice" [MGI:Nmice] synonym: "reduced summary potential threshold" EXACT [] is_a: MP:0003471 ! abnormal summary potential threshold [Term] id: MP:0003474 name: abnormal summary potential intensity def: "any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice" [MGI:Nmice] is_a: MP:0003470 ! abnormal summary potential [Term] id: MP:0003475 name: increased summary potential intensity def: "increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice" [MGI:Nmice] is_a: MP:0003474 ! abnormal summary potential intensity [Term] id: MP:0003476 name: decreased summary potential intensity def: "reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice" [MGI:Nmice] synonym: "reduced summary potential intensity" EXACT [] is_a: MP:0003474 ! abnormal summary potential intensity [Term] id: MP:0003477 name: abnormal nerve fiber response def: "anomaly in the electrophysiological recordings from a single or several nerve fiber(s)" [MGI:Nmice] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0003478 name: abnormal nerve fiber response threshold def: "any change in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s)" [MGI:Nmice] is_a: MP:0003477 ! abnormal nerve fiber response [Term] id: MP:0003479 name: abnormal nerve fiber response intensity def: "any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s)" [MGI:Nmice] is_a: MP:0003477 ! abnormal nerve fiber response [Term] id: MP:0003480 name: increased nerve fiber response intensity def: "increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s)" [MGI:Nmice] is_a: MP:0003479 ! abnormal nerve fiber response intensity [Term] id: MP:0003481 name: decreased nerve fiber response intensity def: "reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s)" [MGI:Nmice] synonym: "reduced nerve fiber response intensity" EXACT [] is_a: MP:0003479 ! abnormal nerve fiber response intensity [Term] id: MP:0003482 name: increased nerve fiber response threshold def: "increase in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s)" [MGI:Nmice] is_a: MP:0003478 ! abnormal nerve fiber response threshold [Term] id: MP:0003483 name: decreased nerve fiber response threshold def: "reduction in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s)" [MGI:Nmice] synonym: "reduced nerve fiber response threshold" EXACT [] is_a: MP:0003478 ! abnormal nerve fiber response threshold [Term] id: MP:0003484 name: abnormal channel response alt_id: MP:0002203 def: "anomalies in the electrophysiological recordings from ion channels" [MGI:Nmice] synonym: "channel defects" EXACT [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0003485 name: abnormal channel response threshold def: "any change in the value at which a stimulus first elicits a recordable response recorded from ion channels" [MGI:Nmice] is_a: MP:0003484 ! abnormal channel response [Term] id: MP:0003486 name: abnormal channel response intensity def: "any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels" [MGI:Nmice] is_a: MP:0003484 ! abnormal channel response [Term] id: MP:0003487 name: increased channel response intensity def: "increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels" [MGI:Nmice] is_a: MP:0003486 ! abnormal channel response intensity [Term] id: MP:0003488 name: decreased channel response intensity def: "reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels" [MGI:Nmice] synonym: "reduced channel response intensity" EXACT [] is_a: MP:0003486 ! abnormal channel response intensity [Term] id: MP:0003489 name: increased channel response threshold def: "increase in the value at which a stimulus first elicits a recordable response recorded from ion channels" [MGI:Nmice] is_a: MP:0003485 ! abnormal channel response threshold [Term] id: MP:0003490 name: decreased channel response threshold def: "reduction in the value at which a stimulus first elicits a recordable response recorded from ion channels" [MGI:Nmice] synonym: "reduced channel response threshold" EXACT [] is_a: MP:0003485 ! abnormal channel response threshold [Term] id: MP:0003491 name: abnormal voluntary movement def: "anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience" [MGI:Nmice] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0003492 name: abnormal involuntary movement def: "anomaly in movements that occur independent of planning (e.g. reflexive behavior)" [MGI:Nmice] subset: Europhenome_Terms is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0003493 name: parathyroid gland hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] synonym: "parathyroid hyperplasia" RELATED [] is_a: MP:0003112 ! enlarged parathyroid gland [Term] id: MP:0003494 name: parathyroid hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] is_a: MP:0003113 ! small parathyroid gland [Term] id: MP:0003495 name: increased parathyroid adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the parathyroid gland, occurring in a specific population in a given time period" [NCBI:matt] is_a: MP:0010321 ! increased parathyroid gland tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0003496 name: increased thyroid adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period" [NCBI:matt] is_a: MP:0010316 ! increased thyroid tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0003497 name: insensitivity to parathyroid hormone def: "no changes in calcium homeostasis in response to endogenous or exogenous hormone" [NCBI:matt] is_a: MP:0003638 ! abnormal response/metabolism to endogenous compounds [Term] id: MP:0003498 name: thyroid gland hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] synonym: "thyroid hyperplasia" RELATED [] is_a: MP:0005355 ! enlarged thyroid gland [Term] id: MP:0003499 name: thyroid hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] is_a: MP:0002951 ! small thyroid gland [Term] id: MP:0003501 name: iodide oxidation defect def: "thyroid defect in oxidation and organification of iodide" [NCBI:matt] is_a: MP:0002876 ! abnormal thyroid physiology [Term] id: MP:0003502 name: increased activity of thyroid def: "increased function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body" [NCBI:matt] synonym: "hyperthyroidism" EXACT [] is_a: MP:0002876 ! abnormal thyroid physiology [Term] id: MP:0003503 name: decreased activity of thyroid def: "reduced function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body" [NCBI:matt] synonym: "hypothyroidism" EXACT [] synonym: "reduced activity of thyroid" EXACT [] is_a: MP:0002876 ! abnormal thyroid physiology [Term] id: MP:0003504 name: thyroid inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the thyroid gland" [NCBI:matt] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002876 ! abnormal thyroid physiology [Term] id: MP:0003505 name: increased prolactinoma incidence def: "greater than the expected number of a pituitary adenoma characterized by secretion of prolactin, occurring in a specific population in a given time period" [MESH:C04.557.470.035.625, MGI:csmith, NCBI:matt] is_a: MP:0002041 ! increased pituitary adenoma incidence is_a: MP:0010350 ! increased pituitary adenohypophysis tumor incidence [Term] id: MP:0003506 name: acromegaly def: "excessive secretion of growth hormone resulting in progressive enlargement of the face, hands, feet, head, and thorax; organomegaly and impaired glucose homeostasis may ensue" [ISBN:0-683-40008-8, MESH:C05.116.132.082, NCBI:matt] synonym: "increased growth hormone secretion" EXACT [] is_a: MP:0001746 ! abnormal pituitary secretion [Term] id: MP:0003507 name: abnormal ovary physiology def: "any functional anomaly of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone" [MESH:A05.360.319.114.630, NCBI:matt] synonym: "abnormal ovarian physiology" EXACT [] is_a: MP:0003699 ! abnormal female reproductive system physiology is_a: MP:0005647 ! abnormal sex gland physiology [Term] id: MP:0003508 name: abnormal circulating dihydrotestosterone level def: "aberration in the blood concentration of a potent androgenic metabolite of testosterone" [MESH:D04.808.054.040.248, NCBI:matt] synonym: "abnormal circulating level of stanolone" EXACT [] synonym: "abnormal circulating levels of dihydrotestosterone" RELATED [] is_a: MP:0009819 ! abnormal circulating androgen level [Term] id: MP:0003509 name: increased circulating dihydrotestosterone level def: "greater than normal blood concentration of this potent androgenic metabolite of testosterone" [MESH:D04.808.054.040.248, NCBI:matt] synonym: "increased circulating levels of dihydrotestosterone" EXACT [] is_a: MP:0003508 ! abnormal circulating dihydrotestosterone level [Term] id: MP:0003510 name: decreased circulating dihydrotestosterone level def: "reduction in the blood concentration of a potent androgenic metabolite of testosterone" [MESH:D04.808.054.040.248, NCBI:matt] synonym: "decreased circulating levels of dihydrotestosterone" EXACT [] synonym: "reduced circulating levels of dihydrotestosterone" EXACT [] is_a: MP:0003508 ! abnormal circulating dihydrotestosterone level [Term] id: MP:0003511 name: abnormal labium morphology def: "any structural anomaly of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003512 name: enlarged labia def: "increased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003511 ! abnormal labium morphology [Term] id: MP:0003513 name: small labia def: "decreased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003511 ! abnormal labium morphology [Term] id: MP:0003514 name: interlabial sulcus def: "the presence of grooves or furrows in the folds of skin which lips on both sides of the vaginal opening" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003511 ! abnormal labium morphology [Term] id: MP:0003515 name: abnormal labia majora morphology def: "any structural anomaly of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003511 ! abnormal labium morphology [Term] id: MP:0003516 name: absent labia majora def: "absence of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003515 ! abnormal labia majora morphology [Term] id: MP:0003517 name: enlarged labia majora def: "increased size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003515 ! abnormal labia majora morphology [Term] id: MP:0003518 name: small labia majora def: "reduced size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003515 ! abnormal labia majora morphology [Term] id: MP:0003519 name: splayed labia majora def: "flattened or spread out appearance of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003515 ! abnormal labia majora morphology [Term] id: MP:0003520 name: abnormal labia minora morphology def: "any structural anomaly of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003511 ! abnormal labium morphology [Term] id: MP:0003521 name: absent labia minora def: "absence of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003520 ! abnormal labia minora morphology [Term] id: MP:0003522 name: enlarged labia minora def: "increased size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003520 ! abnormal labia minora morphology [Term] id: MP:0003523 name: small labia minora def: "reduced size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003520 ! abnormal labia minora morphology [Term] id: MP:0003524 name: splayed labia minora def: "flattened or spread out appearance of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening" [NCBI:matt] is_a: MP:0003520 ! abnormal labia minora morphology [Term] id: MP:0003525 name: vulva warts def: "benign epithelial growths of the external genitalia of the female" [NCBI:matt] synonym: "vulval warts" EXACT [] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003526 name: vulva cysts def: "cystic vulva; usually refers to a benign growth" [NCBI:matt] synonym: "vulval cysts" EXACT [] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003527 name: small vulva def: "decreased size of the external genitalia of the female" [ISBN:0-683-40008-8, NCBI:matt] synonym: "decreased vulva size" EXACT [] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003528 name: enlarged vulva def: "increased size of the external genitalia of the female" [ISBN:0-683-40008-8, NCBI:matt] synonym: "increased vulva size" EXACT [] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003529 name: enlarged clitoris def: "increased size of the small, erectile body located at the anterior end of the vulva" [ISBN:0-683-40008-8, NCBI:matt] synonym: "clitorimegaly" EXACT [] is_a: MP:0009100 ! abnormal clitoris size [Term] id: MP:0003530 name: small clitoris def: "reduced size of the small, erectile body located at the anterior end of the vulva" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0009100 ! abnormal clitoris size [Term] id: MP:0003531 name: abnormal vagina development def: "abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva" [NCBI:matt] synonym: "abnormal vaginal development" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0003533 name: bifid vagina def: "cleft of the female reproductive canal located between the uterus and the vulva into two parts or branches" [ISBN:0-683-40008-8, NCBI:matt] synonym: "double vagina" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003534 name: blind vagina def: "presence the female reproductive canal that ends in a sac and does not connect to internal genitalia" [MGI:csmith, NCBI:matt] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003535 name: absent vagina def: "absence of the female reproductive canal located between the uterus and the vulva" [NCBI:matt] subset: Europhenome_Terms is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003536 name: vagina dryness def: "lack of the normal presence or reduced presence of secretions in the vagina" [NCBI:matt] synonym: "vaginal dryness" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003537 name: hydrometrocolpos def: "collection of fluid in the vagina; often due to a congenital obstruction" [NCBI:matt] synonym: "hydrometrocolops" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003538 name: abnormal hymen development def: "anomaly in the morphogenesis of the thin membrane which may partially occlude the opening of the vagina; often absent in normal females" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0001142 ! abnormal vagina opening [Term] id: MP:0003539 name: absent hymen def: "absence of the thin membrane which may partially occlude the opening of the vagina" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003538 ! abnormal hymen development [Term] id: MP:0003540 name: imperforate hymen def: "absence of the normal opening of the thin membrane which may partially occlude the opening of the vagina; here the opening is completely occluded" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003538 ! abnormal hymen development [Term] id: MP:0003541 name: vaginal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" [NCBI:matt] synonym: "vaginitis" EXACT [] is_a: MP:0002254 ! reproductive system inflammation [Term] id: MP:0003542 name: abnormal vascular endothelial cell development def: "anomaly in the differentiation of the cells that line the vasculature" [MGI:smb] is_a: MP:0000259 ! abnormal vascular development [Term] id: MP:0003543 name: abnormal vascular endothelial cell differentiation def: "anomaly in the process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell" [MGI:smb] is_a: MP:0003542 ! abnormal vascular endothelial cell development is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0003544 name: abnormal vascular endothelial cell migration def: "anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body" [MGI:smb] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0003542 ! abnormal vascular endothelial cell development [Term] id: MP:0003545 name: increased alcohol consumption def: "greater than normal consumption of alcohol" [RGD:cur] is_a: MP:0001425 ! abnormal alcohol consumption is_a: MP:0003911 ! increased drinking behavior [Term] id: MP:0003546 name: decreased alcohol consumption def: "less than normal consumption of alcohol" [RGD:cur] synonym: "reduced alcohol consumption" EXACT [] is_a: MP:0001425 ! abnormal alcohol consumption is_a: MP:0003912 ! decreased drinking behavior [Term] id: MP:0003547 name: abnormal pulmonary pressure def: "altered tension of the blood within the pulmonary arteries" [MGI:anna] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0003548 name: pulmonary hypertension def: "sustained high pulmonary pressure at a level that is likely to result in disease and/or other pathological states" [MGI:anna] is_a: MP:0004012 ! increased pulmonary artery pressure [Term] id: MP:0003549 name: pulmonary hypotension def: "sustained low pulmonary pressure at a level that is likely to result in disease and/or other pathological states" [MGI:anna] is_a: MP:0004013 ! decreased pulmonary artery pressure [Term] id: MP:0003550 name: short perineum def: "reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm" [NCBI:matt] is_a: MP:0005189 ! abnormal anogenital distance [Term] id: MP:0003551 name: blind perineal pouch def: "opening in the perineum leading to a blind-ending sac" [NCBI:matt] is_a: MP:0003315 ! abnormal perineum morphology [Term] id: MP:0003552 name: vagina cysts def: "benign epithelial growths of the female reproductive canal located between the uterus and the vulva" [NCBI:matt] synonym: "vaginal cysts" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003553 name: abnormal foreskin morphology def: "any structural anomaly of the loose fold of skin that covers the penis" [NCBI:matt] synonym: "abnormal prepuce morphology" EXACT [] is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0003554 name: phimosis def: "inability of the penis to protrude from the prepuce/foreskin; may be due to a narrow opening of the foreskin resulting in the inability to retract the distal foreskin over the glans penis" [MGI:mberry, NCBI:matt] is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0003555 name: chordee def: "acute angulation of the penis upon erection; often painful and due to disease or congenital malformation" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0003557 name: absent vas deferens alt_id: MP:0003556 def: "absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct" [ISBN:0-683-40008-8, NCBI:matt] synonym: "absent ductus deferens" EXACT [] synonym: "agenesis of vas deferens" EXACT [] synonym: "ductus deferens aplasia" EXACT [] synonym: "vas deferens aplasia" EXACT [] is_a: MP:0002769 ! abnormal vas deferens morphology [Term] id: MP:0003558 name: absent uterus def: "absence of the female muscular organ of gestation" [NCBI:matt] synonym: "absence of metra" EXACT [] synonym: "absence of uterus" EXACT [] synonym: "absent metra" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0003559 name: bifid uterus def: "cleft of the female muscular organ of gestation into two parts or branches, often having the appearance of two lobes" [NCBI:matt] synonym: "bifid metra" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0003560 name: osteoarthritis def: "a type of arthritis that results in the breakdown and eventual loss of the auricular cartilage of one or more joints" [J:95374, MGI:smb] synonym: "degenerative arthritis" EXACT [] synonym: "osteoarthrosis" EXACT [] is_a: MP:0002993 ! arthritis [Term] id: MP:0003561 name: rheumatoid arthritis def: "an autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body" [ISBN:0-683-40008-8] synonym: "osteoarthrosis deformans" EXACT [] is_a: MP:0001844 ! autoimmune response is_a: MP:0002993 ! arthritis [Term] id: MP:0003562 name: abnormal pancreatic beta cell physiology def: "anomaly in the function of the insulin-producing cells of the islets of Langerhans in the pancreas" [MGI:smb] synonym: "abnormal insulin-secreting cell physiology" EXACT [] synonym: "abnormal pancreatic B cell physiology" EXACT [] is_a: MP:0010147 ! abnormal endocrine pancreas physiology [Term] id: MP:0003563 name: abnormal pancreatic alpha cell physiology def: "anomaly in the function of the glucagon-producing cells of the islets of Langerhans in the pancreas" [MGI:smb] synonym: "abnormal glucagon secreting cell physiology" EXACT [] synonym: "abnormal pancreatic A cell physiology" EXACT [] is_a: MP:0010147 ! abnormal endocrine pancreas physiology [Term] id: MP:0003564 name: abnormal insulin secretion def: "anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids" [MESH:D06.472.699.587.740.625, MGI:smb] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0002694 ! abnormal pancreas secretion is_a: MP:0003562 ! abnormal pancreatic beta cell physiology [Term] id: MP:0003565 name: abnormal glucagon secretion def: "anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes" [MESH:D06.472.699.587.469.500, MGI:smb] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0002694 ! abnormal pancreas secretion is_a: MP:0003563 ! abnormal pancreatic alpha cell physiology [Term] id: MP:0003566 name: abnormal cell adhesion def: "altered ability of a cell to adhere to another cell or to a non-cellular component of the environment" [MGI:monikat] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003567 name: abnormal fetal cardiomyocyte proliferation def: "anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:smb] synonym: "abnormal cardiomyoblast proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0002106 ! abnormal muscle physiology is_a: MP:0011390 ! abnormal fetal cardiomyocyte physiology [Term] id: MP:0003568 name: uterus atresia def: "congenital absence of the normal opening or lumen of the uterus" [ISBN:0-683-40008-8, NCBI:matt] synonym: "metra atresia" EXACT [] synonym: "metral atresia" EXACT [] synonym: "uterine atresia" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0003569 name: increased leiomyoma incidence def: "greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, NCBI:matt] synonym: "increased fibroid tumor incidence" EXACT [] synonym: "increased fibromyoma incidence" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010290 ! increased muscle tumor incidence [Term] id: MP:0003570 name: increased uterus leiomyoma incidence def: "greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle of the uterus, occurring in a specific population in a given time period" [MESH:C04.557.450.590.450, NCBI:matt] synonym: "increased fibroid uterus incidence" EXACT [] synonym: "increased uterine fibroid incidence" EXACT [] synonym: "increased uterine fibroma incidence" EXACT [] synonym: "increased uterine fibromyoma incidence" EXACT [] synonym: "increased uterine leiomyoma incidence" EXACT [] is_a: MP:0003569 ! increased leiomyoma incidence is_a: MP:0009222 ! uterus tumor [Term] id: MP:0003571 name: uterus rupture def: "tearing of the uterine tissue; may be due to trauma or pregnancy complications" [MESH:C23.300.909, NCBI:matt] synonym: "metra rupture" EXACT [] synonym: "metral rupture" EXACT [] synonym: "rupture of uterus" EXACT [] synonym: "uterine rupture" RELATED [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0003572 name: abnormal uterus development def: "abnormal morphogenesis of the female muscular organ of gestation" [NCBI:matt] synonym: "abnormal metra development" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0003574 name: abnormal oviduct morphology def: "any structural anomaly of the tube through which the ova pass from the ovary to the uterus" [MGI:smb] synonym: "abnormal fallopian tube morphology" EXACT [] synonym: "abnormal salpinges morphology" EXACT [] synonym: "abnormal salpinx morphology" EXACT [] synonym: "abnormal salpinx uterina morphology" EXACT [] synonym: "abnormal tuba fallopiana morphology" EXACT [] synonym: "abnormal tuba fallopii morphology" EXACT [] synonym: "abnormal tuba uterina morphology" EXACT [] synonym: "abnormal uterine tube morphology" EXACT [] synonym: "fallopian tube dysplasia" EXACT [] synonym: "oviduct dysplasia" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0003575 name: absent oviduct def: "absence of the tube through which the ova pass from the ovary to the uterus" [MGI:smb] synonym: "absent fallopian tubes" EXACT [] synonym: "absent salpinges" EXACT [] synonym: "absent salpinx" EXACT [] synonym: "absent salpinx uterina" EXACT [] synonym: "absent tuba fallopiana" EXACT [] synonym: "absent tuba fallopii" EXACT [] synonym: "absent tuba uterina" EXACT [] synonym: "absent uterine tube" EXACT [] synonym: "agenesis of fallopian tubes" EXACT [] synonym: "aplasia of fallopian tubes" EXACT [] synonym: "oviduct agenesis" EXACT [] synonym: "oviduct aplasia" EXACT [] is_a: MP:0003574 ! abnormal oviduct morphology [Term] id: MP:0003576 name: oviduct hypoplasia alt_id: MP:0003577 def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the tube through which the ova pass from the ovary to the uterus" [MGI:smb] synonym: "fallopian tube hypoplasia" EXACT [] synonym: "rudimentary fallopian tubes" EXACT [] synonym: "rudimentary oviduct" EXACT [] synonym: "rudimentary salpinges" EXACT [] synonym: "rudimentary salpinx" EXACT [] synonym: "rudimentary salpinx uterina" EXACT [] synonym: "rudimentary tuba fallopiana" EXACT [] synonym: "rudimentary tuba fallopii" EXACT [] synonym: "rudimentary tuba uterina" EXACT [] synonym: "rudimentary uterine tube" EXACT [] synonym: "salpinges hypoplasia" EXACT [] synonym: "salpinx hypoplasia" EXACT [] synonym: "salpinx uterina hypoplasia" EXACT [] synonym: "tuba fallopiana hypoplasia" EXACT [] synonym: "tuba fallopii hypoplasia" EXACT [] synonym: "tuba uterina hypoplasia" EXACT [] synonym: "uterine tube hypoplasia" EXACT [] is_a: MP:0009070 ! small oviduct [Term] id: MP:0003578 name: absent ovary def: "absence of the female reproductive gland containing the germ cells" [NCBI:matt] synonym: "bilateral ovarian agenesis" EXACT [] synonym: "bilateral ovarian aplasia" EXACT [] synonym: "female agonadism" EXACT [] is_a: MP:0001126 ! abnormal ovary morphology is_a: MP:0005644 ! agonadal [Term] id: MP:0003579 name: ovarian carcinoma def: "malignant neoplasm arising from ovarian tissue" [NCBI:matt] is_a: MP:0002038 ! carcinoma is_a: MP:0008000 ! increased ovary tumor incidence [Term] id: MP:0003580 name: increased fibroma incidence alt_id: MP:0003297 def: "greater than the expected number of a benign tumor of fibrous or fully developed connective tissue, in a specific population in a given time period" [MESH:C04.557.450.565.590.340] synonym: "fibromatosis" RELATED [] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0003581 name: increased ovarian fibroma incidence def: "greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the ovary, in a specific population in a given time period" [MESH:C04.557.450.565.590.340, MGI:csmith, NCBI:matt] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0008000 ! increased ovary tumor incidence [Term] id: MP:0003582 name: abnormal ovary development def: "abnormal morphogenesis of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone" [MESH:A05.360.319.114.630] is_a: MP:0001126 ! abnormal ovary morphology is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0003584 name: bifid ureter def: "two ureters join before draining into the urinary bladder; a duplex kidney with a bifid renal pelvis or bifid ureter ensues when a single ureteral bud bifurcates before the ampulla bifurcates" [MGI:anna] synonym: "partial ureter duplication" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0003585 name: large ureter def: "increased size or length of the tube that conducts the urine from the renal pelvis to the bladder" [ISBN:0-683-40008-8, NCBI:matt] synonym: "megaureter" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0003586 name: dilated ureter def: "abnormal distention of the ureter due to accumulation of fluid" [NCBI:matt] synonym: "ureter dilation" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0003587 name: ureter obstruction alt_id: Fyler:4492 def: "a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic" [MGI:anna] subset: CvDC_Terms synonym: "obstructive uropathy" EXACT [] synonym: "ureteral obstruction" EXACT [] synonym: "ureteral stasis" EXACT [] synonym: "ureteric obstruction" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0003588 name: ureter stenosis def: "abnormal narrowing or constriction of the ureter" [NCBI:matt] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0003589 name: abnormal ureter physiology def: "any functional anomaly of the tube that conducts the urine from the renal pelvis to the bladder" [NCBI:matt] is_a: MP:0005502 ! abnormal renal/urinary system physiology [Term] id: MP:0003590 name: ureteral reflux def: "retrograde movement of urine from the bladder to the kidney" [NCBI:matt] is_a: MP:0003589 ! abnormal ureter physiology [Term] id: MP:0003591 name: urethra atresia def: "closure, or failure to develop a connection in the canal that leads from the bladder and discharges urine externally" [NCBI:matt] is_a: MP:0000537 ! abnormal urethra morphology [Term] id: MP:0003592 name: urethra stenosis def: "abnormal narrowing or constriction of the urethra" [NCBI:matt] is_a: MP:0000537 ! abnormal urethra morphology [Term] id: MP:0003593 name: urethrovaginal fistula def: "an abnormal anatomical passage connecting the urethra and the vagina" [MESH:C23.300.575, NCBI:matt] synonym: "urethro-vaginal fistula" EXACT [] is_a: MP:0000537 ! abnormal urethra morphology is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0003594 name: small urethra def: "decreased size or length of the canal that leads from the bladder and discharges urine externally" [NCBI:matt] is_a: MP:0000537 ! abnormal urethra morphology [Term] id: MP:0003595 name: epididymal cyst def: "benign growths present in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [NCBI:matt] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0003596 name: epididymal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [NCBI:matt] is_a: MP:0002254 ! reproductive system inflammation [Term] id: MP:0003597 name: increased epididymal cystadenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising from epididymal tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] synonym: "increased epididymal cystoma incidence" EXACT [] is_a: MP:0010287 ! increased reproductive system tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0003598 name: epispadias def: "congenital absence of the upper wall of the urethra" [MESH:C12.706.374, NCBI:matt] is_a: MP:0000537 ! abnormal urethra morphology is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0003599 name: large penis def: "enlarged size of the organ of copulation and urination in the male" [ISBN:0-683-40008-8, NCBI:matt] synonym: "macropenis" EXACT [] synonym: "macrophallus" EXACT [] is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0003600 name: ectopic kidney def: "a kidney located outside of its normal position usually due to failed migration of the ureteral bud and developing metanephric blastema to the renal fossa; the most common example of renal ectopia is a pelvic kidney; other sites of ectopic kidneys include the iliac region, the abdomen, the chest, and, in some cases, the contralateral side, referred to as crossed" [MGI:anna] synonym: "renal ectopia" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003601 name: bifid kidney def: "cleft of the kidney into two parts or branches, often having the appearance of two lobes" [NCBI:matt] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003602 name: renal hamartoma def: "a benign formation of a mass of tissue of disproportionate size and distribution in the kidney, but composed of an overgrowth of mature cells and tissues that normally occur in this tissue" [NCBI:matt] is_a: MP:0010294 ! increased kidney tumor incidence is_a: MP:0010306 ! increased hamartoma incidence [Term] id: MP:0003603 name: renal hemangioblastoma def: "a benign cyst-like tumor of the kidney that is composed of multiple capillary and sinusoidal channels lined with endothelial cells" [NCBI:matt] is_a: MP:0002947 ! hemangioma is_a: MP:0008021 ! blastoma is_a: MP:0010294 ! increased kidney tumor incidence [Term] id: MP:0003604 name: single kidney alt_id: Fyler:4509 def: "presence of only one of the paired organs responsible for urine secretion" [NCBI:matt] subset: CvDC_Terms synonym: "unilateral kidney agenesis" EXACT [] synonym: "unilateral renal agenesis" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003605 name: fused kidneys alt_id: Fyler:4507 def: "a defect in which there is a single malformed organ resulting from partial or complete fusion of the two renal anlage" [ISBN:0-683-40008-8, MGI:csmith, NCBI:matt] subset: CvDC_Terms synonym: "cake kidney" NARROW [] synonym: "disk kidney" NARROW [] synonym: "horseshoe kidney" NARROW [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003606 name: kidney failure def: "failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur" [NCBI:matt] synonym: "renal failure" EXACT [] synonym: "renal insufficiency" BROAD [] is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0003607 name: abnormal prostate gland physiology def: "any functional anomaly of the gland in males that secretes part of the seminiferous fluid" [ISBN:0-683-40008-8] is_a: MP:0003698 ! abnormal male reproductive system physiology is_a: MP:0005647 ! abnormal sex gland physiology [Term] id: MP:0003608 name: prostate gland inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the prostate" [MGI:cwg] synonym: "prostate inflammation" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003607 ! abnormal prostate gland physiology [Term] id: MP:0003609 name: small scrotum def: "reduced size of the external sac of skin that encloses the testes" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0003610 name: scrotum hyperplasia def: "overdevelopment or increase in size, usually due to an increase in cell number, of the external sac of skin that encloses the testes" [NCBI:matt] is_a: MP:0001150 ! enlarged scrotum [Term] id: MP:0003611 name: scrotum hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the external sac of skin that encloses the testes" [NCBI:matt] is_a: MP:0003609 ! small scrotum [Term] id: MP:0003612 name: bifid scrotum def: "cleft of the scrotum into two parts or branches, often having the appearance of two lobes" [NCBI:matt] is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0003613 name: abnormal kidney medulla development def: "anomaly in the differentiation of the inner portion of the kidney consisting of the renal pyramids" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal renal medulla development" EXACT [] is_a: MP:0000527 ! abnormal kidney development is_a: MP:0003014 ! abnormal kidney medulla morphology [Term] id: MP:0003614 name: urinary bladder prolapse def: "downward movement, and possible external appearance, of the bladder through the urethra" [NCBI:matt] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0003615 name: urinary bladder diverticulum def: "a pouch or sac protruding from the urinary bladder wall" [NCBI:matt] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0003616 name: urachus def: "fibrous connection between bladder and umbilicus" [NCBI:matt] is_a: MP:0000538 ! abnormal urinary bladder morphology is_a: MP:0001725 ! abnormal umbilical cord morphology [Term] id: MP:0003617 name: urinary bladder hypoplasia def: "underdevelopment or reduced size of the urinary bladder, usually due to a reduced number of cells" [NCBI:matt] synonym: "cystis urinaria hypoplasia" EXACT [] synonym: "urocyst hypoplasia" EXACT [] synonym: "urocystis hypoplasia" EXACT [] synonym: "vesica hypoplasia" EXACT [] synonym: "vesica urinaria hypoplasia" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0003618 name: cervical atresia def: "narrowing of the cervical opening" [NCBI:matt] is_a: MP:0001135 ! abnormal cervix morphology [Term] id: MP:0003619 name: abnormal urine color def: "any alteration from the usual straw-coloration of the urine" [NCBI:matt] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0003620 name: oliguria def: "decreased volume of urine produced and excreted" [NCBI:matt] subset: Europhenome_Terms synonym: "decreased urine output" EXACT [] synonym: "low urine output" EXACT [] synonym: "oliguresis" EXACT [] synonym: "reduced urine output" EXACT [] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0003621 name: dysuria def: "difficult or painful urination" [NCBI:matt] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0003622 name: ischuria def: "upon urination, some urine is retained in the bladder instead of being excreted" [NCBI:matt] synonym: "incomplete emptying of bladder" EXACT [] synonym: "urinary retention" EXACT [] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0003623 name: hydrocele def: "accumulation of fluid around testes" [NCBI:matt] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0003624 name: anuria alt_id: MP:0002755 def: "inability to form or excrete urine" [NCBI:matt] synonym: "failure to urinate" EXACT [] synonym: "inability to micturate" EXACT [] synonym: "inability to urinate" EXACT [] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0003625 name: kidney medulla hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the inner portion of the kidney consisting of the renal pyramids" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003014 ! abnormal kidney medulla morphology [Term] id: MP:0003626 name: kidney medulla hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the inner portion of the kidney consisting of the renal pyramids" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0003014 ! abnormal kidney medulla morphology [Term] id: MP:0003627 name: abnormal leukocyte tethering or rolling def: "anomaly in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation" [GO:0050901, MGI:smb] synonym: "abnormal leukocyte tethering" EXACT [] synonym: "abnormal lymphocyte rolling" NARROW [] is_a: MP:0009858 ! abnormal cellular extravasation [Term] id: MP:0003628 name: abnormal leukocyte adhesion def: "anomaly in the number of or process by which leukocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel" [MGI:smb] synonym: "abnormal lymphocyte adhesion" NARROW [] synonym: "abnormal lymphocyte firm adhesion" EXACT [] is_a: MP:0003156 ! abnormal leukocyte migration [Term] id: MP:0003630 name: abnormal urothelium morphology def: "any structural anomaly of the epithelial lining of the lumen of the organs of the urinary tract" [MGI:csmith] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0003631 name: nervous system phenotype alt_id: MP:0005368 alt_id: MP:0005383 def: "the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan" [MGI:csmith] synonym: "central nervous system phenotype" NARROW [] synonym: "CNS phenotype" NARROW [] synonym: "peripheral nervous system phenotype" NARROW [] synonym: "PNS phenotype" NARROW [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0003632 name: abnormal nervous system morphology alt_id: Fyler:4135 alt_id: Fyler:4300 alt_id: MP:0000769 alt_id: MP:0000957 alt_id: MP:0002153 alt_id: MP:0002157 alt_id: MP:0002170 alt_id: MP:0002171 def: "any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal central nervous system morphology" NARROW [] synonym: "abnormal peripheral nervous system" NARROW [] synonym: "abnormal peripheral nervous system morphology" NARROW [] synonym: "central nervous system abnormalities" NARROW [] synonym: "central nervous system anomaly" NARROW [] synonym: "central nervous system defects" NARROW [] synonym: "central nervous system: other dysmorphology" NARROW [] synonym: "nervous system dysplasia" EXACT [] synonym: "neurologic malformation" EXACT [] synonym: "other abnormal central nervous system morphology" NARROW [] synonym: "peripheral nervous system abnormalities" NARROW [] synonym: "peripheral nervous system abnormality" NARROW [] synonym: "peripheral nervous system anomaly" NARROW [] synonym: "peripheral nervous system defects" NARROW [] synonym: "peripheral nervous system: dysmorphology" NARROW [] xref: GO:0007417 xref: MGI:2173613 xref: MGI:2173617 is_a: MP:0003631 ! nervous system phenotype [Term] id: MP:0003633 name: abnormal nervous system physiology alt_id: MP:0000945 alt_id: MP:0001887 alt_id: MP:0001910 alt_id: MP:0001918 alt_id: MP:0002155 alt_id: MP:0002158 def: "any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions" [MGI:csmith] synonym: "abnormal brain function" NARROW [] synonym: "abnormal central nervous system physiology" NARROW [] synonym: "abnormal peripheral nervous system physiology" NARROW [] synonym: "central nervous system functional abnormalities" NARROW [] synonym: "central nervous system: other functional anomalies" NARROW [] synonym: "peripheral nervous system: functional anomalies" NARROW [] xref: MGI:2173615 xref: MGI:2173618 is_a: MP:0003631 ! nervous system phenotype [Term] id: MP:0003634 name: abnormal glial cell morphology def: "any structural anomaly of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MESH:A08.637] synonym: "abnormal glia" EXACT [] synonym: "abnormal neuroglia" EXACT [] synonym: "glial cell dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0003635 name: abnormal synaptic transmission alt_id: MP:0002202 def: "defect in the communication from a neuron to a target across a synapse" [MESH:G04.335.880.850] synonym: "abnormal neurotransmission" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0003636 name: absence of hair cells def: "OBSOLETE. absence of the sensory epithelial cells of the inner ear" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0004325 consider: MP:0004405 [Term] id: MP:0003637 name: cochlear ganglion hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [ISBN:0-683-40008-8] synonym: "reduced number of spiral ganglion cells" EXACT [] synonym: "spiral ganglion hypoplasia" EXACT [] is_a: MP:0003986 ! small cochlear ganglion [Term] id: MP:0003638 name: abnormal response/metabolism to endogenous compounds def: "altered ability or inability to metabolize or respond to substances normally present in the body" [MGI:csmith] synonym: "abnormal metabolism of endogenous compounds" EXACT [] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0003639 name: abnormal response to vitamins def: "altered ability or inability to respond to or metabolize a group of organic substances that are required in trace amounts for the normal metabolic homeostasis of the body" [MESH:D27.505.696.377.605.600] synonym: "abnormal metabolism of vitamins" EXACT [] is_a: MP:0003638 ! abnormal response/metabolism to endogenous compounds is_a: MP:0004019 ! abnormal vitamin homeostasis [Term] id: MP:0003641 name: small lung def: "reduced size of the lung compared to controls" [J:95332, MGI:smb] synonym: "decreased lung size" EXACT [] is_a: MP:0004881 ! abnormal lung size [Term] id: MP:0003642 name: absent seminal vesicle def: "absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [ISBN:0-683-40008-8] synonym: "absent seminal gland" EXACT [] is_a: MP:0002059 ! abnormal seminal vesicle morphology [Term] id: MP:0003643 name: spleen atrophy def: "acquired diminution of the size of the spleen associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "atrophic spleen" EXACT [] synonym: "splenic atrophy" EXACT [] is_a: MP:0000692 ! small spleen [Term] id: MP:0003644 name: thymus atrophy def: "acquired diminution of the size of the thymus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "atrophic thymus" EXACT [] synonym: "atrophied thymus" EXACT [] synonym: "thymic atrophy" EXACT [] is_a: MP:0000706 ! small thymus [Term] id: MP:0003645 name: increased pancreatic beta cell number def: "greater than normal number of the cells of the pancreas that secrete insulin" [MESH:A03.734.414.131] synonym: "increased number of pancreatic beta cells" RELATED [] is_a: MP:0005217 ! abnormal pancreatic beta cell morphology [Term] id: MP:0003646 name: muscle fatigue def: "increased muscle exhaustion or increased susceptibility to muscle exhaustion" [J:96306] synonym: "muscle fatigability" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0003647 name: absent oligodendrocytes def: "absence of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600] synonym: "absent oligodendroglia" EXACT [] synonym: "absent oligodendroglial cells" EXACT [] synonym: "absent oligoglia" EXACT [] synonym: "absent oligoglia cells" EXACT [] is_a: MP:0009808 ! decreased oligodendrocyte number [Term] id: MP:0003648 name: abnormal radial glial cell morphology def: "any structural anomaly of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [MGI:csmith] synonym: "abnormal radial glia" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0003649 name: decreased heart right ventricle size def: "less than average size of the right ventricle compared to the average for a particular population" [MGI:anna] synonym: "decreased right ventricle size" EXACT [] synonym: "reduced right ventricle" EXACT [] is_a: MP:0010577 ! abnormal heart right ventricle size [Term] id: MP:0003651 name: abnormal axon outgrowth def: "abnormality in the ability of an axon to extend from a neuron cell body" [J:96121, MGI:monikat] synonym: "abnormal axon extension" EXACT [] is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0003652 name: abnormal skin turgor def: "anomaly in the ability of the skin to resist deformation; influential factors include dehydration and age" [MGI:csmith] synonym: "abnormal turgor" EXACT [] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0003653 name: decreased skin turgor def: "reduced ability of the skin to resist deformation; influential factors include dehydration and age" [MGI:csmith] synonym: "poor skin turgor" EXACT [] synonym: "poor turgor" EXACT [] synonym: "reduced skin turgor" EXACT [] is_a: MP:0003652 ! abnormal skin turgor [Term] id: MP:0003654 name: nasal bone hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the bone which forms the nasal bridge" [MGI:anna] is_a: MP:0004474 ! enlarged nasal bone [Term] id: MP:0003655 name: absent pancreas def: "absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [J:20779, MGI:anna] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0003656 name: abnormal erythrocyte physiology def: "any functional anomaly of the cells in the blood that carry oxygen, red blood cells" [MGI:cwg] synonym: "abnormal red blood cell physiology" EXACT [] is_a: MP:0001545 ! abnormal hematopoietic system physiology [Term] id: MP:0003657 name: abnormal erythrocyte osmotic lysis def: "increase or decrease in the ability of RBCs to withstand changes in osmolarity" [MGI:smb] synonym: "abnormal erythrocyte lysis" BROAD [] synonym: "abnormal erythroid stress" EXACT [] synonym: "erythrocyte fragility" EXACT [] is_a: MP:0010163 ! hemolysis [Term] id: MP:0003658 name: abnormal capillary morphology def: "any structural anomaly of the small branching blood vessels that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues" [http://en.wikipedia.org/wiki/Capillary, MGI:csmith] synonym: "abnormal capillaries" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0003659 name: abnormal lymph circulation def: "abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system" [MGI:monikat] is_a: MP:0002128 ! abnormal blood circulation is_a: MP:0010368 ! abnormal lymphatic system physiology [Term] id: MP:0003660 name: chylothorax def: "an accumulation of chyle (fluid consisting of lymph and emulsified fats that is formed in the small intestine during digestion of fatty foods and taken up by the lymph vessels) in the pleural space" [ISBN:0-683-40008-8] synonym: "chylopleura" EXACT [] synonym: "chylous hydrothorax" EXACT [] is_a: MP:0010334 ! pleural effusion [Term] id: MP:0003661 name: abnormal locus ceruleus morphology def: "any structural anomaly of a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic" [ISBN:0838580343] synonym: "abnormal locus coeruleus morphology" EXACT [] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0003662 name: abnormal long bone epiphyseal plate proliferative zone def: "any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [MGI:smb] synonym: "abnormal long bone epiphysial plate proliferative zone" RELATED [] is_a: MP:0000164 ! abnormal cartilage development is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0003663 name: abnormal thermosensation def: "defect in the ability to sense or display a preference for a given temperature" [J:96549, MGI:monikat] synonym: "abnormal thermal preference" EXACT [] synonym: "impaired thermosensation" EXACT [] is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception [Term] id: MP:0003664 name: ocular pterygium def: "abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil" [ISBN:0-683-40008-8, MGI:monikat] synonym: "pterygia" BROAD [] synonym: "Surfer's eye" EXACT [] synonym: "web eye" EXACT [] is_a: MP:0001310 ! abnormal conjunctiva morphology [Term] id: MP:0003665 name: endophthalmitis def: "inflammation of the internal structures of the tissues in the eyeball" [J:96018, MGI:monikat] is_a: MP:0001851 ! eye inflammation is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0003666 name: impaired sperm capacitation def: "anomaly in the change undergone by spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg" [J:96669, MGI:monikat] is_a: MP:0004543 ! abnormal sperm physiology [Term] id: MP:0003667 name: hemangiosarcoma def: "a malignant tumor characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and appear as irregular blood-filled or lumpy sacs that are typically filled with blood; rupture of the tumor can cause rapid death from bleeding" [ISBN:0-683-40008-8, MESH:C04.557.450.795.390, MGI:anna] synonym: "angiosarcoma" EXACT [] is_a: MP:0002032 ! sarcoma is_a: MP:0010291 ! increased cardiovascular system tumor incidence [Term] id: MP:0003668 name: abnormal periodontal ligament morphology def: "any structural anomaly of the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket" [MGI:anna] synonym: "abnormal periodontium" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology is_a: MP:0005504 ! abnormal ligament morphology [Term] id: MP:0003669 name: periodontal ligament hypercellularity def: "increased cell density of the periodontal ligament" [MGI:anna] is_a: MP:0003668 ! abnormal periodontal ligament morphology [Term] id: MP:0003670 name: dilated renal glomerular capsule def: "stretched or widened aperture of the expanded beginning of a nephron that contains the glomerulus" [MGI:anna] synonym: "Bowman's capsule dilation" EXACT [] synonym: "dilated Bowman's capsule" EXACT [] synonym: "renal glomerular capsule dilation" EXACT [] is_a: MP:0002828 ! abnormal renal glomerular capsule morphology [Term] id: MP:0003671 name: abnormal eyelid aperture def: "any anomaly in the normal distance from one eyelid to the other, or closure of the eyes" [MGI:csmith] subset: Europhenome_Terms synonym: "abnormal eyelid opening" EXACT [] synonym: "abnormal palpebral fissure size" RELATED [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0003672 name: abnormal ureter development def: "any anomaly in the differentiation of the tube that conducts the urine from the renal pelvis to the bladder" [MGI:smb] is_a: MP:0000534 ! abnormal ureter morphology is_a: MP:0003942 ! abnormal urinary system development [Term] id: MP:0003673 name: abnormal inguinal canal morphology def: "any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively" [ISBN:0-683-40008-8, MESH:A01.047.412] synonym: "inguinal canal dysplasia" RELATED [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0003674 name: oxidative stress def: "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MESH:G06.535.710] is_a: MP:0003186 ! abnormal redox activity [Term] id: MP:0003675 name: kidney cysts alt_id: MP:0005347 def: "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [ISBN:0-683-40008-8, MGI:pvb] synonym: "cystic kidney" EXACT [] synonym: "renal cysts" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003677 name: abnormal ear lobe morphology def: "any structural anomaly in the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0003678 name: absent ear lobes def: "missing the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage" [NCBI:matt] synonym: "absence of ear lobes" EXACT [] is_a: MP:0003677 ! abnormal ear lobe morphology [Term] id: MP:0003679 name: ear lobe hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the ear lobes" [NCBI:matt] synonym: "hypoplastic ear lobes" EXACT [] is_a: MP:0003677 ! abnormal ear lobe morphology [Term] id: MP:0003680 name: thick ear lobes def: "an increase in the fleshiness of the ear lobes" [NCBI:matt] synonym: "fleshy earlobes" EXACT [] is_a: MP:0003677 ! abnormal ear lobe morphology [Term] id: MP:0003681 name: protruding ear lobes def: "ear lobes that project outward" [NCBI:matt] synonym: "protruding lobules" EXACT [] is_a: MP:0003677 ! abnormal ear lobe morphology [Term] id: MP:0003682 name: linear crease in ear lobe def: "appearance of fold-like marks in the ear lobe" [NCBI:matt] synonym: "linear ear lobe creases" EXACT [] is_a: MP:0003677 ! abnormal ear lobe morphology [Term] id: MP:0003683 name: prominent ear lobes def: "conspicuous appearance of the ear lobes" [NCBI:matt] is_a: MP:0003681 ! protruding ear lobes [Term] id: MP:0003684 name: abnormal inferior olivary complex morphology def: "any structural anomaly in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements" [ISBN:0838580343] synonym: "abnormal inferior olivary nucleus morphology" EXACT [] synonym: "abnormal inferior olive morphology" EXACT [] synonym: "abnormal oliva morphology" EXACT [] is_a: MP:0000846 ! abnormal medulla oblongata morphology [Term] id: MP:0003685 name: abnormal cardiac ganglion morphology def: "any structural anomaly of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery" [ISBN:0-683-40008-8] synonym: "abnormal cardiac ganglia morphology" EXACT [] synonym: "abnormal Wrisberg ganglion morphology" EXACT [] is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology [Term] id: MP:0003686 name: abnormal eye muscle morphology def: "any structural anomaly of the muscles of the eye" [MGI:smb] synonym: "eye muscle dysplasia" EXACT [] synonym: "ocular muscle dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0003687 name: abnormal intraocular muscle morphology def: "any structural anomaly of the smooth muscles within the eye" [MGI:smb, NCBI:matt] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0003686 ! abnormal eye muscle morphology [Term] id: MP:0003688 name: ophthalmoparesis def: "loss of strength in the muscles that control eye movement" [MGI:smb, NCBI:matt] is_a: MP:0000747 ! muscle weakness is_a: MP:0001389 ! abnormal eye movement [Term] id: MP:0003689 name: ophthalmoplegia def: "paralysis of the ocular muscles" [MGI:smb, NCBI:matt] is_a: MP:0001389 ! abnormal eye movement is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0003690 name: abnormal glial cell physiology def: "any functional anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MESH:A08.637] synonym: "abnormal glial cell function" EXACT [] synonym: "abnormal neuroglia physiology" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0003691 name: abnormal microglial cell physiology def: "any functional anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques" [PMID:16322748] is_a: MP:0002451 ! abnormal macrophage physiology is_a: MP:0003690 ! abnormal glial cell physiology [Term] id: MP:0003692 name: xanthoma def: "a deposit of cholesterol rich material in a tissue, most often in the skin but also seen in tendons and in the brain" [MGI:smb] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0003693 name: abnormal embryo hatching def: "anomalies in the ability of the embryo to break out of the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, may be seen in vivo or in cultured embryos" [MGI:smb] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0003694 name: failure to hatch from the zona pellucida def: "the embryo fails to break out of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, may be seen in vivo or in cultured embryos" [MGI:smb] is_a: MP:0003693 ! abnormal embryo hatching [Term] id: MP:0003695 name: delayed hatching from the zona pellucida def: "the embryo takes longer than normal to break out of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, may be seen in vivo or in cultured embryos" [MGI:smb] is_a: MP:0003693 ! abnormal embryo hatching [Term] id: MP:0003696 name: abnormal zona pellucida morphology def: "any structural anomaly of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation" [MGI:smb] is_a: MP:0001125 ! abnormal oocyte morphology [Term] id: MP:0003697 name: absent zona pellucida def: "missing the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation" [MGI:smb] is_a: MP:0003696 ! abnormal zona pellucida morphology [Term] id: MP:0003698 name: abnormal male reproductive system physiology def: "any functional anomaly of the male organs associated with producing offspring" [MGI:csmith] is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0003699 name: abnormal female reproductive system physiology def: "any functional anomaly of the female organs associated with producing offspring" [MGI:csmith] is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0003700 name: abnormal oviduct transport def: "increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus" [J:97633, MGI:smb] is_a: MP:0004015 ! abnormal oviduct environment [Term] id: MP:0003701 name: elevated level of mitotic sister chromatid exchange def: "increased number of crossovers between sister chromatids during mitosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes; normally crossover exchanges are supressed during mitosis and only occur in meiosis" [MGI:hdene, PMID:15831450] synonym: "elevated SCE" EXACT [] is_a: MP:0004046 ! abnormal mitosis [Term] id: MP:0003702 name: abnormal chromosome morphology alt_id: Fyler:4013 def: "any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information" [MGI:hdene] subset: CvDC_Terms is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0003703 name: abnormal vestibulocochlear ganglion morphology alt_id: MP:0001090 def: "any structural anomaly of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia" [MGI:smb] synonym: "abnormal spiral ganglion" BROAD [] synonym: "abnormal vestibular cochlear ganglion" EXACT [] synonym: "abnormal vestibular cochlear ganglion morphology" EXACT [] synonym: "abnormal vestibulocochlear ganglia morphology" EXACT [] is_a: MP:0001081 ! abnormal cranial ganglia morphology is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0003704 name: abnormal hair follicle development def: "any anomaly in the development of the epidermis from which the hair shaft develops" [MGI:monikat] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0003705 name: abnormal hypodermis morphology def: "any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal hypoderm morphology" RELATED [] synonym: "abnormal stratum subcutaneum morphology" EXACT [] synonym: "abnormal subcutaneous tissue morphology" EXACT [] synonym: "abnormal subcutis morphology" EXACT [] synonym: "abnormal superficial fascia morphology" EXACT [] synonym: "abnormal tela subcutanea morphology" EXACT [] synonym: "hypodermal dysplasia" EXACT [] is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0003706 name: abnormal cell nucleus count def: "absent or greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis or events leading to apoptosis" [MGI:pg] synonym: "abnormal nucleus count" RELATED [] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0003707 name: increased cell nucleus count def: "greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis" [MGI:pg] synonym: "increased nucleus count" RELATED [] is_a: MP:0003706 ! abnormal cell nucleus count [Term] id: MP:0003708 name: binucleate def: "two nuclei present per cell body when one is expected; often due to failed cytokinesis" [MGI:pg] is_a: MP:0003707 ! increased cell nucleus count [Term] id: MP:0003709 name: anucleate def: "absent nucleus of a cell body when one is expected; often due to events leading to apoptosis" [MGI:pg] synonym: "enucleate" EXACT [] is_a: MP:0003706 ! abnormal cell nucleus count [Term] id: MP:0003710 name: abnormal physiological neovascularization def: "anomalies in the development of new blood vessels in restoration of blood circulation during the healing process" [MESH:G09.330.582.751] synonym: "abnormal angiogenesis involved in wound healing" EXACT [] synonym: "abnormal physiological angiogenesis" EXACT [MESH:G09.330.582.751] xref: GO:0060055 is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0003711 name: pathological neovascularization def: "the proliferation of blood vessels in abnormal tissues or in abnormal positions" [MESH:C23.550.589.500] synonym: "pathologic angiogenesis" EXACT [] synonym: "pathologic neovascularization" EXACT [] synonym: "pathological angiogenesis" EXACT [] is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0003712 name: raised ear position def: "outer ears which are situated above the normal location" [MGI:cwg, NCBI:matt] is_a: MP:0000023 ! abnormal ear distance/ position [Term] id: MP:0003713 name: abnormal ear rotation def: "outer ears that are positioned such that the ears are turned relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position" [MGI:csmith, NCBI:matt] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0000023 ! abnormal ear distance/ position [Term] id: MP:0003714 name: absent platelets def: "lack of non-nucleated cells found in the blood and involved in blood coagulation" [MGI:csmith] synonym: "absence of platelets" EXACT [] synonym: "absent thrombocytes" EXACT [] is_a: MP:0003179 ! decreased platelet cell number [Term] id: MP:0003715 name: posteriorly rotated ears def: "outer ears that are positioned such that the ears are turned backwards relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position" [MGI:csmith, NCBI:matt] subset: Europhenome_Terms is_a: MP:0003713 ! abnormal ear rotation [Term] id: MP:0003716 name: anteriorly rotated ears def: "outer ears that are positioned such that the ears are turned forward relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position" [MGI:csmith, NCBI:matt] subset: Europhenome_Terms synonym: "anteverted pinnae" EXACT [] is_a: MP:0003713 ! abnormal ear rotation [Term] id: MP:0003717 name: pallor def: "an unnatural paleness to the skin, generally attributable to anemia" [MESH:C23.888.885.500] subset: Europhenome_Terms synonym: "pale skin" EXACT [] synonym: "pallid" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0003718 name: maternal effect def: "expression of a phenotypic trait in a female animal's offspring that is dependent on the maternal genotype" [MGI:csmith] is_a: MP:0005395 ! other phenotype [Term] id: MP:0003719 name: abnormal pericyte morphology def: "any structural anomaly of the connective tissue cells that occurs around capillaries or other small blood vessels" [MGI:smb] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0003720 name: abnormal neural tube closure def: "any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline" [J:99099, MGI:monikat] synonym: "abnormal neural fold fusion" EXACT [] synonym: "abnormal neural tube fusion" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0003721 name: increased tumor growth/size def: "greater than expected development of tumorous growth when compared to controls" [MGI:smb] is_a: MP:0003448 ! altered tumor morphology [Term] id: MP:0003722 name: absent ureter def: "missing the tube that conducts the urine from the renal pelvis to the bladder" [MGI:csmith] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0003723 name: abnormal long bone morphology def: "any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles" [ISBN:0-683-40008-8, MGI:csmith] synonym: "long bone dysplasia" EXACT [] is_a: MP:0009250 ! abnormal appendicular skeleton morphology [Term] id: MP:0003724 name: increased susceptibility to induced arthritis def: "more likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents" [MGI:acv] synonym: "decreased resistance to induced arthritis" EXACT [] is_a: MP:0002993 ! arthritis is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0003725 name: increased autoantibody level def: "elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease" [MGI:acv, MGI:csmith] is_a: MP:0001844 ! autoimmune response [Term] id: MP:0003726 name: decreased autoantibody level def: "reduced level of antibodies to self-antigens present in the sera" [MGI:acv, MGI:csmith] synonym: "reduced autoantibody level" EXACT [] is_a: MP:0001844 ! autoimmune response [Term] id: MP:0003727 name: abnormal retinal layer morphology def: "any structural anomaly of any of the layers that make up the retina" [MGI:smb] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0003728 name: abnormal retinal photoreceptor layer morphology def: "any structural anomaly of the photoreceptor layer" [MGI:monikat] synonym: "abnormal photoreceptor layer" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0003729 name: abnormal photoreceptor outer segment morphology def: "any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:monikat] synonym: "abnormal photoreceptor outer segments" EXACT [] xref: GO:0001750 is_a: MP:0001004 ! abnormal retinal photoreceptor morphology [Term] id: MP:0003730 name: abnormal photoreceptor inner segment morphology def: "any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:monikat] synonym: "abnormal photoreceptor inner segments" EXACT [] xref: GO:0001917 is_a: MP:0001004 ! abnormal retinal photoreceptor morphology [Term] id: MP:0003731 name: abnormal retinal outer nuclear layer morphology def: "any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat] synonym: "abnormal ONL morphology" EXACT [] synonym: "abnormal outer nuclear layer morphology" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0003732 name: abnormal retinal outer plexiform layer morphology def: "any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat] synonym: "abnormal OPL morphology" EXACT [] synonym: "abnormal outer plexiform layer morphology" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0003733 name: abnormal retinal inner nuclear layer morphology def: "any structural anomaly of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat] synonym: "abnormal inner nuclear layer morphology" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0003734 name: abnormal retinal inner plexiform layer morphology def: "any structural anomaly of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat] synonym: "abnormal inner plexiform layer morphology" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0003735 name: cup-shaped ears def: "deeply concave appearance to the outer ear" [NCBI:matt] is_a: MP:0000022 ! abnormal ear shape [Term] id: MP:0003736 name: folded helix def: "the bending over of the upper cartilaginous rim of the outer ear" [NCBI:matt] is_a: MP:0000022 ! abnormal ear shape [Term] id: MP:0003737 name: ossification of pinnae def: "formation of bone in the outer ear, which is normally cartilaginous" [MGI:csmith, NCBI:matt] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0003739 name: dense middle ear ossicles def: "thickening of the three small bones of the middle ear" [NCBI:matt] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0003740 name: fusion of middle ear ossicles def: "union of the three small bones of the middle ear into a single structure" [NCBI:matt] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0003741 name: tinnitus def: "persistent sensation of buzzing, ringing, clicking, or other noises in the ear" [MESH:C09.218.458.670, NCBI:matt] is_a: MP:0001963 ! abnormal hearing physiology [Term] id: MP:0003742 name: narrow head def: "a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region" [NCBI:matt] subset: Europhenome_Terms is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0003743 name: abnormal facial morphology def: "any structural anomaly of the face" [NCBI:matt] is_a: MP:0000432 ! abnormal head morphology [Term] id: MP:0003744 name: abnormal orofacial morphology def: "any structural anomaly of the oral cavities of the face" [NCBI:matt] is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0003745 name: abnormal mucosal lining of the mouth def: "any structural anomaly of the mucus -secreting tissue that lines the oral cavity" [NCBI:matt] is_a: MP:0000452 ! abnormal mouth morphology is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003746 name: stomatitis def: "inflammation of the mucous lining of the mouth" [NCBI:matt] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0003747 name: mouth mucosal ulceration def: "lesions through the mucous membrane of the mouth, usually associated with loss of tissue" [NCBI:matt] is_a: MP:0003745 ! abnormal mucosal lining of the mouth [Term] id: MP:0003748 name: oral mucosa hemangioma def: "proliferation of blood vessels in the oral mucosa that leads to a mass that resembles a benign neoplasm" [NCBI:matt] is_a: MP:0002947 ! hemangioma is_a: MP:0003750 ! increased mouth tumor incidence [Term] id: MP:0003749 name: down-turned corners of mouth def: "the lateral points of the oral cavity opening appear in a lower position that the rest of the lips" [NCBI:matt] synonym: "down slanted corners of mouth" EXACT [] synonym: "down turned corners of mouth" EXACT [] synonym: "down-slanted corners of mouth" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology [Term] id: MP:0003750 name: increased mouth tumor incidence def: "greater than the expected number of neoplasms in the mouth tissues, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010292 ! increased alimentary system tumor incidence [Term] id: MP:0003751 name: oral leukoplakia def: "white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition" [NCBI:matt] is_a: MP:0003745 ! abnormal mucosal lining of the mouth [Term] id: MP:0003752 name: oral papilloma def: "benign epithelial tumor of the oral cavity" [NCBI:matt] is_a: MP:0002014 ! increased papilloma incidence is_a: MP:0003750 ! increased mouth tumor incidence [Term] id: MP:0003753 name: lip papilloma def: "benign epithelial tumor of the lip of the oral cavity" [NCBI:matt] is_a: MP:0003752 ! oral papilloma is_a: MP:0003780 ! lip tumor [Term] id: MP:0003754 name: gingival papilloma def: "benign epithelial tumor of the oral gum tissue" [NCBI:matt] is_a: MP:0003752 ! oral papilloma [Term] id: MP:0003755 name: abnormal palate morphology def: "any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)" [NCBI:matt] synonym: "palate dysplasia" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003756 name: abnormal hard palate morphology def: "any structural anomaly of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003757 name: high palate def: "greater distance upward to the roof of the oral cavity than usual" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003758 name: narrow palate def: "abnormally slim shape to the roof of the oral cavity" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003759 name: broad palate def: "abnormally wide shape to the roof of the oral cavity" [NCBI:matt] synonym: "wide palate" EXACT [] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003760 name: short palate def: "abnormally decreased length to the roof of the oral cavity" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003761 name: arched palate def: "abnormally concaved shape to the roof of the oral cavity" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003762 name: abnormal immune organ physiology def: "any functional anomaly of the organs of the immune system" [MGI:csmith] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0003763 name: abnormal thymus physiology def: "any functional anomaly of the primary lymphoid organ that is required for immune system development" [ISBN:0-683-40008-8] is_a: MP:0001545 ! abnormal hematopoietic system physiology is_a: MP:0003762 ! abnormal immune organ physiology [Term] id: MP:0003764 name: abnormal palatal depth def: "any change in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology [Term] id: MP:0003765 name: increased palatal depth def: "greater than average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge" [NCBI:matt] is_a: MP:0003764 ! abnormal palatal depth [Term] id: MP:0003766 name: decreased palatal depth def: "reduction in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge" [NCBI:matt] synonym: "reduced palatal depth" EXACT [] is_a: MP:0003764 ! abnormal palatal depth [Term] id: MP:0003767 name: palate inflammation def: "local accumulation of fluid, plasma proteins and leukocytes in the palate" [NCBI:matt] synonym: "palatal inflammation" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0003768 name: palatal telangiectases def: "vascular lesion formed by dilation of a group of small blood vessels in the palate" [NCBI:matt] is_a: MP:0003755 ! abnormal palate morphology is_a: MP:0004175 ! telangiectases [Term] id: MP:0003769 name: abnormal lip morphology def: "any structural anomaly of the fleshy margins of the mouth" [NCBI:matt] is_a: MP:0003744 ! abnormal orofacial morphology [Term] id: MP:0003770 name: lip ulceration def: "lesions through the mucous membrane of the inner surface of the lip" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003771 name: abnormal lip shape def: "changes in the characteristic contours of the fleshy margins of the mouth" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003772 name: lip pits def: "an abnormal hollow or depression in the fleshy margins of the mouth" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003773 name: everted lip def: "an outward turning of the inner surface of the lip" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003774 name: fleshy lip def: "lips having an abundance and often an excess of soft tissue" [NCBI:matt] synonym: "full lip" EXACT [] synonym: "thick lip" EXACT [] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003775 name: thin lip def: "lips having a reduced amount of soft tissue" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003776 name: lip atrophy def: "acquired diminution of the size of the lip tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003777 name: lip inflammation def: "local accumulation of fluid, plasma proteins and leukocytes in the lips" [NCBI:matt] is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0003778 name: lip telangiectases def: "vascular lesion formed by dilation of a group of small blood vessels in the lip" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology is_a: MP:0004175 ! telangiectases [Term] id: MP:0003779 name: lip cysts def: "fluid-filled membranous sacs present in the lips" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003780 name: lip tumor def: "presence of abnormal rapidly proliferating cells in the lip, usually in the form of a distinct mass" [NCBI:matt] is_a: MP:0008018 ! increased facial tumor incidence [Term] id: MP:0003781 name: lip neuroma def: "tumor derived from nerve cells or fibers residing in the lip" [NCBI:matt] is_a: MP:0003780 ! lip tumor is_a: MP:0010281 ! increased nervous system tumor incidence [Term] id: MP:0003782 name: short lip def: "lip that does not extend fully to the normal placement and meet the opposite lip" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003783 name: tented upper lip def: "an upper lip having an inverted V- shape" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003784 name: thin lip vermillion border def: "reduced thickness of the line between the lip and the facial skin around the mouth" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003785 name: lip mucosal nodules def: "small mass of tissue or aggregation of cells in the mucosal tissue of the inner lip" [NCBI:matt] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0003786 name: premature aging def: "earlier than normal occurrence of the normal signs of aging" [MGI:smb] is_a: MP:0010768 ! mortality/aging [Term] id: MP:0003787 name: abnormal imprinting def: "defects in the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself" [GO:0006349] synonym: "abnormal regulation of gene expression by DNA imprinting" EXACT [] synonym: "abnormal regulation of gene expression by genetic imprinting" EXACT [] is_a: MP:0003121 ! genetic imprinting is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0003788 name: abnormal interferon physiology def: "OBSOLETE. impairment or increase of the cellular release of any of the cytokines produced by T cells, fibroblasts and other cells in response to a challenge by a foreign agents such as viruses, bacteria, parasites and tumor cells" [ISBN:0-683-40008-8, MGI:hdene] is_obsolete: true consider: MP:0008555 consider: MP:0008750 [Term] id: MP:0003789 name: osteosarcoma def: "malignant neoplasm derived from bone" [MGI:smb] is_a: MP:0002032 ! sarcoma is_a: MP:0010280 ! increased skeletal tumor incidence [Term] id: MP:0003790 name: absent CD4-positive T cells def: "lack of the set of single-positive T cells that express CD4 on their surface" [MGI:acv, MGI:csmith, MGI:cwg] synonym: "absent CD4+ T cells" EXACT [] synonym: "absent CD4+8- T cells" EXACT [] synonym: "absent single positive T cells" BROAD [] is_a: MP:0008075 ! decreased CD4-positive T cell number is_a: MP:0008084 ! absent single-positive T cells [Term] id: MP:0003791 name: abnormal minor salivary gland morphology def: "any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0003792 name: abnormal major salivary gland morphology def: "any structural anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0003793 name: abnormal submandibular gland morphology def: "any structural anomaly of either of the large major salivary glands situated beneath the mandible" [MGI:anna] synonym: "abnormal maxillary gland morphology" EXACT [] synonym: "abnormal submaxillary gland morphology" EXACT [] is_a: MP:0003792 ! abnormal major salivary gland morphology [Term] id: MP:0003794 name: delayed somite formation def: "late onset of the induction and/or differentiation of the somites" [J:99723, MGI:smb] is_a: MP:0001688 ! abnormal somite development [Term] id: MP:0003795 name: abnormal bone structure def: "anomaly in the composite material or the layered arrangement of the bony endoskeleton of the body" [MGI:csmith] subset: Europhenome_Terms is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0003797 name: abnormal compact bone morphology alt_id: MP:0003796 def: "any structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [ISBN:0-683-40008-8, MGI:hdene] synonym: "abnormal cortical bone morphology" EXACT [] synonym: "abnormal dense bone" EXACT [] synonym: "abnormal lamellar bone" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0003798 name: abnormal Harderian gland pigmentation def: "any anomaly in the coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid, due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:llw2] comment: The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. is_a: MP:0005248 ! abnormal Harderian gland morphology is_a: MP:0009389 ! abnormal extracutaneous pigmentation [Term] id: MP:0003799 name: impaired macrophage chemotaxis alt_id: MP:0005496 def: "reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions" [GO:0048246] synonym: "decreased macrophage recruitment" EXACT [] synonym: "impaired macrophage migration" EXACT [] synonym: "impaired macrophage recruitment" EXACT [] synonym: "reduced macrophage recruitment" EXACT [] is_a: MP:0010760 ! abnormal macrophage chemotaxis [Term] id: MP:0003800 name: monodactyly def: "having only one toe or digit on each extremity" [MGI:monikat] synonym: "monodactylous" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0003801 name: deviant histocompatibility locus def: "OBSOLETE. deviation from the parental type of histocompatibility" [MGI:mberry] synonym: "altered histocompatibility locus" EXACT [] is_obsolete: true [Term] id: MP:0003802 name: deviant class I histocompatibility locus def: "OBSOLETE. deviation from the parental type of class I histocompatibility" [MGI:mberry] is_obsolete: true [Term] id: MP:0003803 name: deviant class II histocompatibility locus def: "OBSOLETE. deviation from the parental type of class II histocompatibility" [MGI:mberry] is_obsolete: true [Term] id: MP:0003804 name: deviant minor histocompatibility locus def: "OBSOLETE. deviation from the parental type of minor histocompatibility" [MGI:mberry] is_obsolete: true [Term] id: MP:0003805 name: deviant histocompatibility-related locus def: "OBSOLETE. deviation from the parental type of a histocompatibility-related locus" [MGI:mberry] is_obsolete: true [Term] id: MP:0003806 name: abnormal nucleotide metabolism def: "any anomaly in the chemical reactions and pathways involving a nucleotide, including metabolic, catabolic and biosynthetic processes" [GO:0009117] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0003807 name: camptodactyly def: "permanent flexion of one or more digits; contractures may also be seen in the wrists and at the elbows" [MGI:csmith] synonym: "flexed digits" EXACT [] synonym: "flexed fingers" NARROW [] synonym: "flexed toes" NARROW [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0003808 name: increased atrioventricular cushion size def: "larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [MGI:mac] synonym: "enlarged atrioventricular cushions" EXACT [] synonym: "enlarged endocardial cushions" EXACT [] synonym: "increased endocardial cushion size" EXACT [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology [Term] id: MP:0003809 name: abnormal hair shaft morphology alt_id: MP:0002854 def: "any structural anomaly of the cuticle, cortex and/or medulla of a hair" [MGI:llw2] synonym: "abnormal hair fiber" EXACT [] synonym: "abnormal hair shaft" EXACT [] synonym: "hair shaft dysplasia" EXACT [] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0003810 name: abnormal hair cuticle def: "anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft" [MGI:llw2] is_a: MP:0003809 ! abnormal hair shaft morphology [Term] id: MP:0003811 name: abnormal hair cortex morphology def: "any structural anomaly in the spindle shaped cells of the hair shaft that contains keratin fibrils and matrix" [MGI:llw2] is_a: MP:0003809 ! abnormal hair shaft morphology [Term] id: MP:0003812 name: abnormal hair medulla def: "anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0003809 ! abnormal hair shaft morphology [Term] id: MP:0003813 name: abnormal hair follicle dermal papilla morphology def: "any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts" [PMID:19211055] is_a: MP:0010681 ! abnormal hair follicle bulb morphology [Term] id: MP:0003814 name: vascular smooth muscle cell hypoplasia def: "decreased numbers of smooth muscle cells in the vascular wall" [MGI:cwg] is_a: MP:0005592 ! abnormal vascular smooth muscle morphology [Term] id: MP:0003815 name: hairless def: "having no hair at any time throughout lifespan, generally referring to primary genetic hairlessness" [MGI:llw2] synonym: "absent hair" BROAD [] synonym: "bald" RELATED [] synonym: "hypotrichosis" RELATED [] synonym: "naked" RELATED [] synonym: "nude" EXACT [] is_a: MP:0001510 ! abnormal coat appearance is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0003816 name: abnormal pituitary gland development def: "malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [J:51160, MGI:smb] synonym: "abnormal pituitary development" RELATED [] is_a: MP:0000633 ! abnormal pituitary gland morphology [Term] id: MP:0003817 name: abnormal pituitary diverticulum morphology def: "any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis" [ISBN:0-683-40008-8] synonym: "abnormal craniopharyngeal canal morphology" EXACT [] synonym: "abnormal hypophyseal pouch morphology" EXACT [] synonym: "abnormal Rathke diverticulum morphology" EXACT [] synonym: "abnormal Rathke's pocket morphology" EXACT [] synonym: "abnormal Rathke's pouch morphology" EXACT [] is_a: MP:0003816 ! abnormal pituitary gland development [Term] id: MP:0003818 name: abnormal eye muscle development def: "malformation or arrest of differentiation of the muscles of the eye" [J:51160, MGI:smb] is_a: MP:0000733 ! abnormal muscle development is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0003819 name: increased left ventricle diastolic pressure def: "increase in the pressure in the left ventricle between heart beats when the heart is relaxed" [RGD:cur] is_a: MP:0010754 ! abnormal heart left ventricle pressure [Term] id: MP:0003820 name: increased left ventricle systolic pressure def: "increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries" [RGD:cur] is_a: MP:0010754 ! abnormal heart left ventricle pressure [Term] id: MP:0003821 name: decreased left ventricle diastolic pressure def: "decrease in the pressure in the left ventricle between heart beats when the heart is relaxed" [RGD:cur] synonym: "reduced left ventricle diastolic pressure" EXACT [] is_a: MP:0010754 ! abnormal heart left ventricle pressure [Term] id: MP:0003822 name: decreased left ventricle systolic pressure def: "decrease in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries" [RGD:cur] synonym: "reduced left ventricle systolic pressure" EXACT [] is_a: MP:0010754 ! abnormal heart left ventricle pressure [Term] id: MP:0003823 name: increased left ventricle developed pressure def: "increase in the difference between left ventricular systolic and diastolic pressures" [RGD:cur] synonym: "increased left ventricular developed pressure" EXACT [] synonym: "increased LVDP" EXACT [] is_a: MP:0010754 ! abnormal heart left ventricle pressure [Term] id: MP:0003824 name: decreased left ventricle developed pressure def: "decrease in the difference between left ventricular systolic and diastolic pressures" [RGD:cur] synonym: "decreased left ventricular developed pressure" EXACT [] synonym: "decreased LVDP" EXACT [] synonym: "reduced left ventricular developed pressure" EXACT [] synonym: "reduced LVDP" EXACT [] is_a: MP:0010754 ! abnormal heart left ventricle pressure [Term] id: MP:0003825 name: abnormal pillar cell morphology def: "any structural anomaly of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti" [MGI:monikat] is_a: MP:0004300 ! abnormal organ of Corti supporting cell morphology [Term] id: MP:0003826 name: abnormal Mullerian duct morphology def: "any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [ISBN:0-683-40008-8, MGI:smb] synonym: "abnormal Muller duct morphology" EXACT [] synonym: "abnormal paramesonephric duct" EXACT [] is_a: MP:0008487 ! abnormal mesonephros morphology [Term] id: MP:0003827 name: abnormal Wolffian duct morphology def: "any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [ISBN:0-683-40008-8, MESH:A16.254.940] synonym: "abnormal archinephric duct morphology" EXACT [] synonym: "abnormal ductus mesonephricus" EXACT [] synonym: "abnormal Gartner's duct morphology" EXACT [] synonym: "abnormal Leydig's duct morphology" EXACT [] synonym: "abnormal mesonephric duct morphology" EXACT [] synonym: "abnormal nephric duct morphology" EXACT [] synonym: "abnormal pronephric duct morphology" EXACT [] is_a: MP:0008487 ! abnormal mesonephros morphology [Term] id: MP:0003828 name: pulmonary edema def: "an accumulation of an excessive amount of serous fluid in the parenchyma and the alveoli via effusion of intravascular fluid from the pulmonary vascular bed" [MESH:C08.381.742, MGI:anna, MGI:csmith] synonym: "wet lung" EXACT [MESH:C08.381.742] is_a: MP:0001785 ! edema is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0003829 name: impaired febrile response def: "reduced or absent febrile response to exogenous or endogenous pyrogens" [MGI:anna] synonym: "impaired fever response" EXACT [] is_a: MP:0001777 ! abnormal body temperature homeostasis [Term] id: MP:0003830 name: abnormal testis development def: "abnormal morphogenesis of the male reproductive gland containing the germ cells" [MGI:smb] subset: Europhenome_Terms is_a: MP:0001146 ! abnormal testis morphology is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0003833 name: decreased satellite cell number def: "less than the normal number of unfused cells in muscle that play a role in muscle regeneration" [MGI:smb] synonym: "decreased number of satellite cells" EXACT [] synonym: "reduced satellite cell number" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0003834 name: abnormal adrenergic chromaffin cell morphology def: "any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion" [MGI:smb] synonym: "abnormal adrenergic chromaffin neuron" EXACT [] is_a: MP:0008504 ! abnormal adrenal chromaffin cell morphology [Term] id: MP:0003838 name: abnormal milk ejection def: "impaired milk ejection reflex in response to suckling during lactation" [MGI:anna] is_a: MP:0001882 ! abnormal lactation is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0003839 name: abnormal insulin clearance def: "increase or decrease in the rate at which insulin is removed from the blood stream" [J:99786, MGI:smb] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0003840 name: abnormal coronal suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the frontal bone" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal frontoparietal suture morphology" EXACT [] is_a: MP:0002835 ! abnormal cranial suture morphology [Term] id: MP:0003841 name: abnormal lambdoidal suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the occipital bone" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal occipital suture morphology" EXACT [] synonym: "abnormal occipitoparietal suture morphology" EXACT [] is_a: MP:0002835 ! abnormal cranial suture morphology [Term] id: MP:0003842 name: abnormal metopic suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the frontal bone from the sagittal suture to the root of the nose; it is visible in neonates and juveniles, but it is frequently obliterated in some adult organisms" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal frontal suture morphology" EXACT [] synonym: "abnormal intrafrontal suture morphology" EXACT [] synonym: "abnormal mediofrontal suture morphology" EXACT [] is_a: MP:0002835 ! abnormal cranial suture morphology [Term] id: MP:0003843 name: abnormal sagittal suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal interparietal suture morphology" EXACT [] synonym: "abnormal longitudinal suture morphology" EXACT [] synonym: "abnormal parietal suture morphology" EXACT [] is_a: MP:0002835 ! abnormal cranial suture morphology [Term] id: MP:0003844 name: abnormal squamo-parietal suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the squamous portion of the temporal bones with the parietal bones" [ISBN:0-8036-0655-99, MGI:smb] is_a: MP:0002835 ! abnormal cranial suture morphology [Term] id: MP:0003845 name: abnormal decidualization def: "disrupted proliferation, differentiation or transformation of endometrial stromal cells into decidual cells in the maternal uterus during and after embryo implantation" [MGI:anna, PMID:8371101] synonym: "defective decidualization" EXACT [] is_a: MP:0001712 ! abnormal placenta development is_a: MP:0004014 ! abnormal uterine environment [Term] id: MP:0003846 name: matted coat def: "coat hairs sticks together to form clumps and does not lie flat" [MGI:llw2] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001510 ! abnormal coat appearance is_a: MP:0002074 ! abnormal hair texture [Term] id: MP:0003847 name: disorganized lens bow def: "derangement of the area where the lens epithelium pushes into the lens proper and forms new lens fibers" [MGI:brs] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003848 name: brittle hair def: "hair is susceptible to breakage" [MGI:llw2] is_a: MP:0002074 ! abnormal hair texture [Term] id: MP:0003849 name: greasy coat def: "fur is oily in appearance or texture" [MGI:llw2] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0003850 name: abnormal thymocyte activation def: "anomaly in the process of producing activated thymocytes from naive thymocytes" [MGI:mberry] is_a: MP:0001828 ! abnormal T cell activation is_a: MP:0003763 ! abnormal thymus physiology [Term] id: MP:0003851 name: skeletal muscle interstitial fibrosis def: "formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8] is_a: MP:0009419 ! skeletal muscle fibrosis [Term] id: MP:0003852 name: skeletal muscle necrosis def: "pathological cell death in the skeletal muscle, usually due to irreversible damage" [ISBN:0-683-40008-8] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0003853 name: dry skin def: "skin characterized by the lack of natural or normal moisture" [MGI:monikat] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0003854 name: abnormal forelimb stylopod morphology def: "any structural anomaly of the proximal element of the forelimb including the humerus" [MGI:csmith, PMID:12560810] is_a: MP:0000550 ! abnormal forelimb morphology [Term] id: MP:0003855 name: abnormal forelimb zeugopod morphology def: "any structural anomaly of the distal elements of the forelimb including the radius and ulna" [MGI:csmith, PMID:12560810] synonym: "abnormal lower arm morphology" RELATED [] is_a: MP:0000550 ! abnormal forelimb morphology [Term] id: MP:0003856 name: abnormal hindlimb stylopod morphology def: "any structural anomaly of the proximal element of the hindlimb including the femur" [MGI:csmith, PMID:12560810] is_a: MP:0000556 ! abnormal hindlimb morphology [Term] id: MP:0003857 name: abnormal hindlimb zeugopod morphology def: "any structural anomaly of the distal elements of the hindlimb including the tibia and fibula" [MGI:csmith, PMID:12560810] is_a: MP:0000556 ! abnormal hindlimb morphology [Term] id: MP:0003858 name: enhanced coordination def: "improved ability to execute integrated movements of muscle" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0003859 name: abnormal Harderian gland physiology def: "any functional anomaly of the sebaceous gland located behind the eyeball in the orbit that secretes lipids, porphyrins, and indoles such as melatonin" [J:44727, MGI:monikat] comment: The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0003860 name: abnormal carbon dioxide level def: "anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [MGI:csmith] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0003861 name: abnormal nervous system development def: "impaired or altered growth of the components of the nervous system" [MGI:csmith] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0003862 name: decreased aggression towards males def: "when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice" [MGI:monikat] synonym: "reduced aggression towards males" EXACT [] is_a: MP:0003863 ! decreased aggression towards mice [Term] id: MP:0003863 name: decreased aggression towards mice def: "when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice" [MGI:monikat] synonym: "reduced aggression towards mice" EXACT [] is_a: MP:0002557 ! abnormal social/conspecific interaction is_a: MP:0005656 ! decreased aggression [Term] id: MP:0003864 name: abnormal midbrain development def: "anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0003865 name: lymph node inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the lymph nodes" [MGI:monikat] synonym: "lymphadenitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003762 ! abnormal immune organ physiology [Term] id: MP:0003866 name: abnormal defecation def: "anomaly in the production and excretion of feces" [MGI:smb] subset: Europhenome_Terms is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0003867 name: increased defecation def: "increase in the production and excretion of feces" [MGI:smb] subset: Europhenome_Terms is_a: MP:0003866 ! abnormal defecation [Term] id: MP:0003868 name: abnormal feces composition def: "increase or decrease in the amount of compounds normally found in the feces (fat, protein etc) or presence of material not normally seen in the feces" [MGI:smb] is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0003869 name: ectopic cartilage def: "positional abnormality of cartilage" [MGI:smb] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0003870 name: decreased urine glucose level def: "a reduced amount of glucose in the urine compared to the normal state" [MGI:csmith, RGD:cur] synonym: "reduced urine glucose level" EXACT [] is_a: MP:0001758 ! abnormal urine glucose level [Term] id: MP:0003871 name: abnormal myelin sheath morphology def: "any structural anomaly of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb] is_a: MP:0005404 ! abnormal axon morphology [Term] id: MP:0003872 name: absent heart right ventricle def: "missing the lower right chamber of the heart" [MGI:anna] synonym: "absent pulmonary ventricle" EXACT [] synonym: "absent right ventricle" EXACT [] is_a: MP:0003920 ! abnormal heart right ventricle morphology [Term] id: MP:0003873 name: branchial arch hypoplasia def: "underdevelopment or reduced size of the transient structures of the embryo that develop into regions of the head, neck and ears, usually due to reduced cell number" [MGI:anna, MGI:csmith] synonym: "decreased branchial arch cellularity" RELATED [] synonym: "hypoplastic branchial arches" EXACT [] synonym: "pharyngeal arch hypoplasia" EXACT [] is_a: MP:0006346 ! small branchial arch [Term] id: MP:0003874 name: absent branchial arches def: "missing the transient structures of the embryo that develop into regions of the head, neck and ears" [MGI:anna, MGI:csmith] synonym: "absent pharyngeal arches" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0003875 name: abnormal hair follicle regression def: "abnormal length of time for the onset of catagen phase of the cyclic transformation of the hair follicle" [MGI:monikat] is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0003876 name: abnormal cerebral function def: "OBSOLETE. anomalous activity of the thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri that is responsible for higher mental functions" [MGI:cwg] is_obsolete: true [Term] id: MP:0003877 name: abnormal serotonergic neuron morphology def: "any structural anomaly of the neurons that secrete serotonin" [J:54240, MGI:anna] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003878 name: abnormal ear physiology def: "any functional anomaly of the ear, not due to an anatomical defect" [MGI:smb] is_a: MP:0005377 ! hearing/vestibular/ear phenotype [Term] id: MP:0003879 name: abnormal hair cell physiology def: "any functional anomaly of the sensory epithelial cells of the inner ear" [MGI:smb] is_a: MP:0003878 ! abnormal ear physiology is_a: MP:0010055 ! abnormal sensory neuron physiology [Term] id: MP:0003880 name: abnormal central pattern generator function def: "any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns" [MGI:smb, PMID:14766172] synonym: "abnormal CPG function" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0003881 name: abnormal nephron morphology def: "any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle" [MGI:smb] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003882 name: abnormal pulse pressure def: "anomaly in the difference between systolic and diastolic blood pressure" [MGI:smb, RGD:cur] is_a: MP:0000230 ! abnormal systemic arterial blood pressure [Term] id: MP:0003883 name: enlarged stomach def: "increased size of the stomach" [MGI:monikat] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0003884 name: decreased macrophage cell number def: "fewer than the normal numbers of macrophages" [MGI:acv] synonym: "decreased macrophage count" EXACT [] synonym: "reduced macrophage cell number" EXACT [] synonym: "reduced macrophage count" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0003885 name: abnormal rostral-caudal body axis extension def: "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [MGI:brs] synonym: "abnormal rostro-caudal body axis extension" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0003886 name: abnormal embryonic epiblast morphology def: "any structural anomaly of the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814] synonym: "abnormal ectoblast morphology" EXACT [] synonym: "abnormal embryonic ectoderm morphology" EXACT [] synonym: "abnormal EPI" EXACT [] synonym: "abnormal primary ectoderm morphology" EXACT [] synonym: "abnormal primitive ectoderm morphology" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0003887 name: increased hepatocyte apoptosis def: "increase in the number of hepatocytes undergoing programmed cell death" [MGI:anna] is_a: MP:0006042 ! increased apoptosis is_a: MP:0010080 ! abnormal hepatocyte physiology [Term] id: MP:0003888 name: liver hemorrhage def: "bleeding within the liver" [MGI:anna] is_a: MP:0001634 ! internal hemorrhage [Term] id: MP:0003889 name: enhanced sensorimotor gating def: "amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)" [MGI:pvb] is_a: MP:0002634 ! abnormal sensorimotor gating [Term] id: MP:0003890 name: abnormal embryonic-extraembryonic boundary morphology def: "any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic tissues" [MGI:brs] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0003891 name: increased allantois apoptosis def: "increase in the number of cells of the allantois undergoing programmed cell death" [MGI:anna] is_a: MP:0001726 ! abnormal allantois morphology is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0003892 name: abnormal gastric gland morphology def: "any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin" [MGI:monikat] synonym: "abnormal fundic glands" EXACT [] synonym: "abnormal fundus gland" EXACT [] synonym: "abnormal gastric follicle" EXACT [] synonym: "abnormal oxyntic gland morphology" EXACT [] synonym: "abnormal Wassmann gland morphology" EXACT [] is_a: MP:0010792 ! abnormal stomach mucosa morphology [Term] id: MP:0003893 name: increased hepatocyte proliferation def: "increase in the expansion rate of the hepatocyte cell population by cell division" [MGI:anna] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0010080 ! abnormal hepatocyte physiology [Term] id: MP:0003894 name: abnormal Purkinje cell innervation def: "any structural anomaly of the supply of nerve fibers that connect to the Purkinje cells" [MGI:smb] is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0003895 name: increased ectoderm apoptosis def: "increase in the number of ectoderm cells undergoing programmed cell death during development" [MGI:anna] is_a: MP:0001675 ! abnormal ectoderm development is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0003896 name: prolonged PR interval def: "increase in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:monikat] synonym: "prolonged PQ interval" EXACT [] synonym: "prolonged PR-interval" EXACT [] is_a: MP:0003901 ! abnormal PR interval is_a: MP:0010519 ! atrioventricular block [Term] id: MP:0003897 name: abnormal ST segment def: "anomaly in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized" [MGI:monikat] synonym: "abnormal ST segment duration" EXACT [] is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature [Term] id: MP:0003898 name: abnormal QRS complex def: "anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction" [MGI:monikat] comment: The ventricles have a large muscle mass compared to the atria and so the QRS complex usually has a much larger amplitude than the P-wave. is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature [Term] id: MP:0003899 name: abnormal QT interval def: "anomaly in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave" [MGI:smb, PMID:12114851] comment: A prolonged QT interval is a risk factor for ventricular tachyarrhythmias and sudden death. It varies with heart rate and for clinical relevance requires a correction for this, giving the QTc. is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature [Term] id: MP:0003900 name: shortened QT interval def: "decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave" [MGI:smb, PMID:12114851] synonym: "decreased QT interval" EXACT [] synonym: "reduced QT interval" EXACT [] synonym: "short QT " EXACT [] synonym: "short QT syndrome" RELATED [] is_a: MP:0003899 ! abnormal QT interval [Term] id: MP:0003901 name: abnormal PR interval def: "anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:monikat] comment: The PR interval is measured from the beginning of the P wave to the beginning of the QRS complex. The PR interval reflects the time the electrical impulse takes to travel from the sinus node through the AV node and entering the ventricles. The PR interval is therefore a good estimate of AV node function. synonym: "abnormal PQ interval" EXACT [] is_a: MP:0006141 ! abnormal atrioventricular node conduction is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature [Term] id: MP:0003902 name: abnormal cell mass def: "anomaly in the total physical bulk or volume of a cell compared to the normal state" [RGD:cur] is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0003903 name: increased cell mass def: "greater total physical bulk or volume of a cell compared to the normal state" [RGD:cur] is_a: MP:0003902 ! abnormal cell mass [Term] id: MP:0003904 name: decreased cell mass def: "reduction in the total physical bulk or volume of a cell compared to the normal state" [RGD:cur] synonym: "reduced cell mass" EXACT [] is_a: MP:0003902 ! abnormal cell mass [Term] id: MP:0003905 name: abnormal aorta elastin content def: "anomaly in the physical amount of elastin in the aorta compared to the normal state" [RGD:cur] is_a: MP:0003211 ! abnormal aorta elastic fiber morphology [Term] id: MP:0003906 name: increased aorta elastin content def: "greater physical amount of elastin in the aorta compared to the normal state" [RGD:cur] is_a: MP:0003905 ! abnormal aorta elastin content [Term] id: MP:0003907 name: decreased aorta elastin content def: "reduction in the physical amount of elastin in the aorta compared to the normal state" [RGD:cur] synonym: "reduced aorta elastin content" EXACT [] is_a: MP:0003905 ! abnormal aorta elastin content [Term] id: MP:0003908 name: decreased stereotypic behavior def: "less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful" [RGD:cur] synonym: "reduced stereotypic behavior" EXACT [] is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0003909 name: increased eating behavior def: "more frequent pattern of consumption and/or amount of solid food" [RGD:cur] subset: Sanger_Terms is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0003910 name: decreased eating behavior def: "less frequent pattern of consumption and/or amount of solid food" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypophagia" EXACT [] synonym: "reduced eating behavior" EXACT [] is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0003911 name: increased drinking behavior def: "more frequent pattern and/or amount of consumption of liquids" [RGD:cur] subset: Sanger_Terms is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0003912 name: decreased drinking behavior def: "less frequent pattern and/or amount of consumption of liquids" [RGD:cur] subset: Sanger_Terms synonym: "reduced drinking behavior" EXACT [] is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0003913 name: increased heart right ventricle weight def: "greater than average weight of the right ventricle compared to the average" [RGD:cur] synonym: "increased right ventricle weight" EXACT [] is_a: MP:0002833 ! increased heart weight is_a: MP:0010563 ! increased heart right ventricle size [Term] id: MP:0003914 name: decreased heart right ventricle weight def: "less than average weight of the right ventricle compared to the average" [RGD:cur] synonym: "decreased right ventricle weight" EXACT [] synonym: "reduced right ventricle weight" EXACT [] is_a: MP:0002834 ! decreased heart weight is_a: MP:0003649 ! decreased heart right ventricle size [Term] id: MP:0003915 name: increased left ventricle weight def: "greater than average weight of the left ventricle compared to the average" [RGD:cur] synonym: "increased heart left ventricle weight" EXACT [] is_a: MP:0002833 ! increased heart weight is_a: MP:0010579 ! increased heart left ventricle size [Term] id: MP:0003916 name: decreased heart left ventricle weight def: "less than average weight of the left ventricle compared to the average" [RGD:cur] synonym: "decreased left ventricle weight" EXACT [] synonym: "reduced left ventricle weight" EXACT [] is_a: MP:0002834 ! decreased heart weight is_a: MP:0010580 ! decreased heart left ventricle size [Term] id: MP:0003917 name: increased kidney weight def: "greater weight of the organs responsible for urine secretion" [RGD:cur] is_a: MP:0002707 ! abnormal kidney weight is_a: MP:0003068 ! enlarged kidney [Term] id: MP:0003918 name: decreased kidney weight def: "reduced weight of the organs responsible for urine secretion" [RGD:cur] synonym: "reduced kidney weight" EXACT [] is_a: MP:0002707 ! abnormal kidney weight is_a: MP:0002989 ! small kidney [Term] id: MP:0003919 name: abnormal lymph node cellularity def: "OBSOLETE. anomaly in the cellular make up of the lymph nodes" [MGI:smb] is_obsolete: true [Term] id: MP:0003920 name: abnormal heart right ventricle morphology alt_id: Fyler:1820 def: "any structural anomaly of the right lower chamber of the heart" [MGI:smb] subset: CvDC_Terms synonym: "abnormal right ventricle morphology" EXACT [] synonym: "abnormal RV" EXACT [] synonym: "RV abnormality" RELATED [] is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0003921 name: abnormal heart left ventricle morphology alt_id: Fyler:1810 def: "any structural anomaly of the left lower chamber of the heart" [MGI:smb] subset: CvDC_Terms synonym: "abnormal left ventricle morphology" EXACT [] synonym: "abnormal LV" EXACT [] synonym: "LV abnormality" EXACT [] is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0003922 name: abnormal heart right atrium morphology alt_id: Fyler:1770 def: "any structural anomaly of the right upper chamber of the heart" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal right atrium morphology" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology [Term] id: MP:0003923 name: abnormal heart left atrium morphology alt_id: Fyler:3010 def: "any structural anomaly of the left upper chamber of the heart" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal left atrium morphology" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology [Term] id: MP:0003924 name: herniated diaphragm def: "protrusion of abdominal contents into the thoracic cavity through the diaphragm" [MGI:smb] synonym: "diaphragmatic hernia" EXACT [] is_a: MP:0002279 ! abnormal diaphragm morphology [Term] id: MP:0003925 name: abnormal cellular glucose import def: "anomaly in the ability of a cell to take in glucose from the environment" [RGD:cur] synonym: "abnormal cellular glucose uptake" EXACT [] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003926 name: impaired cellular glucose import def: "reduced ability of a cell to take in glucose from the environment" [RGD:cur] synonym: "impaired cellular glucose uptake" EXACT [] is_a: MP:0003925 ! abnormal cellular glucose import [Term] id: MP:0003927 name: enhanced cellular glucose import def: "improved ability of a cell to take in glucose from the environment" [RGD:cur] synonym: "improved cellular glucose uptake" EXACT [] is_a: MP:0003925 ! abnormal cellular glucose import [Term] id: MP:0003928 name: increased heart rate variability def: "increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle" [RGD:cur] comment: Heart rate variability (HRV) is the variation of beat-to-beat intervals. A healthy heart has a large HRV, while decreased or absent variability may indicate cardiac disease. HRV also decreases with exercise-induced tachycardia. Heart rate variability (HRV) refers to the beat-to-beat alterations in heart rate. Under resting conditions, the ECG of healthy individuals exhibits periodic variation in R-R intervals. This rhythmic phenomenon, known as respiratory sinus arrhythmia (RSA), fluctuates with the phase of respiration -- cardio-acceleration during inspiration, and cardio-deceleration during expiration. RSA is predominantly mediated by respiratory gating of parasympathetic efferent activity to the heart: vagal efferent traffic to the sinus node occurs primarily in phase with expiration and is absent or attenuated during inspiration. The major reason for the interest in measuring HRV stems from its ability to predict survival after heart attack. Over half a dozen prospective studies have shown that reduced HRV predicts sudden death in patients with MI, independent of other prognostic indicators such as ejection fraction. Reduced HRV appears to be a marker of fatal ventricular arrhythmia. Moreover, a small number of studies have begun to suggest that reduced HRV may predict risk of survival even among individuals free of CHD. synonym: "increased respiratory sinus arrhythmia" EXACT [] is_a: MP:0004122 ! abnormal sinus arrhythmia [Term] id: MP:0003929 name: decreased heart rate variability def: "reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle" [RGD:cur] comment: Heart rate variability (HRV) is the variation of beat-to-beat intervals. A healthy heart has a large HRV, while decreased or absent variability may indicate cardiac disease. HRV also decreases with exercise-induced tachycardia. Heart rate variability (HRV) refers to the beat-to-beat alterations in heart rate. Under resting conditions, the ECG of healthy individuals exhibits periodic variation in R-R intervals. This rhythmic phenomenon, known as respiratory sinus arrhythmia (RSA), fluctuates with the phase of respiration -- cardio-acceleration during inspiration, and cardio-deceleration during expiration. RSA is predominantly mediated by respiratory gating of parasympathetic efferent activity to the heart: vagal efferent traffic to the sinus node occurs primarily in phase with expiration and is absent or attenuated during inspiration. The major reason for the interest in measuring HRV stems from its ability to predict survival after heart attack. Over half a dozen prospective studies have shown that reduced HRV predicts sudden death in patients with MI, independent of other prognostic indicators such as ejection fraction. Reduced HRV appears to be a marker of fatal ventricular arrhythmia. Moreover, a small number of studies have begun to suggest that reduced HRV may predict risk of survival even among individuals free of CHD. synonym: "decreased respiratory sinus arrhythmia" EXACT [] synonym: "reduced heart rate variability" RELATED [] is_a: MP:0004122 ! abnormal sinus arrhythmia [Term] id: MP:0003930 name: abnormal tooth hard tissue morphology def: "any structural anomaly of the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root" [MGI:csmith] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0003931 name: absent molars def: "absence of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [MESH:A14.549.167.860.525] is_a: MP:0002689 ! abnormal molar morphology [Term] id: MP:0003932 name: abnormal molar crown morphology def: "any structural anomaly of the part of a molar that is covered by enamel" [ISBN:0-683-40008-8] is_a: MP:0002689 ! abnormal molar morphology [Term] id: MP:0003933 name: abnormal cementum morphology def: "any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth" [MESH:A14.549.167.646.267] synonym: "abnormal cementoblast" NARROW [] synonym: "abnormal dental cementum" EXACT [] is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0003934 name: abnormal pancreas development def: "anomaly in the formation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [MGI:smb] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0003935 name: abnormal craniofacial development def: "anomaly in the process of forming the face and/or cranium" [MGI:csmith] is_a: MP:0000428 ! abnormal craniofacial morphology [Term] id: MP:0003936 name: abnormal reproductive system development def: "developmental anomaly of any of the organs involved in the reproductive system" [MGI:csmith] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0003937 name: abnormal limbs/digits/tail development def: "OBSOLETE. anomaly of the formation of the digits, autopod, limbs, or tail" [MGI:csmith] is_obsolete: true [Term] id: MP:0003938 name: abnormal ear development def: "developmental anomaly of any of the structures involved in the ear or vestibular system" [MGI:csmith] is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0003939 name: abnormal myotome morphology def: "any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature" [MGI:csmith] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0003940 name: abnormal dermatome morphology def: "any structural anomaly in the mesoderm that is derived from the somite that is fated to become the dermis" [MGI:csmith] is_a: MP:0003941 ! abnormal skin development [Term] id: MP:0003941 name: abnormal skin development def: "anomaly in the formation of the membranous protective covering of the body" [MGI:csmith] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0003942 name: abnormal urinary system development def: "any anomaly in the differentiation of the organ system that produces, stores, and eliminates urine" [MGI:csmith] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0003943 name: abnormal hepatobiliary system development def: "developmental anomaly of any of the tissues of the liver or biliary system" [MGI:csmith] synonym: "abnormal liver/biliary system development" EXACT [] is_a: MP:0002138 ! abnormal hepatobiliary system morphology [Term] id: MP:0003944 name: abnormal T cell subpopulation ratio def: "deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples" [MGI:mberry] is_a: MP:0006387 ! abnormal T cell number [Term] id: MP:0003945 name: abnormal lymphocyte physiology def: "any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells" [MGI:monikat] is_a: MP:0002442 ! abnormal leukocyte physiology [Term] id: MP:0003946 name: renal necrosis def: "pathological cell death in the kidney, usually due to irreversible damage" [MGI:anna] synonym: "kidney necrosis" EXACT [] is_a: MP:0009641 ! kidney degeneration [Term] id: MP:0003947 name: abnormal cholesterol level def: "anomaly in the amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] is_a: MP:0001547 ! abnormal lipid level is_a: MP:0005278 ! abnormal cholesterol homeostasis [Term] id: MP:0003948 name: abnormal gas homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood" [MGI:csmith] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0003949 name: abnormal circulating lipid level def: "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001547 ! abnormal lipid level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0003950 name: abnormal plasma membrane morphology def: "any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell" [MGI:monikat] synonym: "abnormal cell membrane morphology" EXACT [] is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0003951 name: abnormal copper homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins" [MGI:csmith] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0005636 ! abnormal mineral homeostasis [Term] id: MP:0003952 name: abnormal copper level def: "anomaly in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins" [CHEBI:28694, MGI:csmith] is_a: MP:0000192 ! abnormal mineral level is_a: MP:0003951 ! abnormal copper homeostasis [Term] id: MP:0003953 name: abnormal hormone level def: "aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone" [MESH:D06.472] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0003954 name: abnormal Reichert's membrane morphology def: "any structural anomaly of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development" [MGI:csmith, MGI:smb] is_a: MP:0011203 ! abnormal parietal yolk sac morphology [Term] id: MP:0003955 name: abnormal ultimobranchial body morphology def: "any structural anomaly of the sac-like structure emanating from the caudal-most branchial pouch of the embryo; develops into the lateral portion of the thyroid that produced calcitonin in higher vertebrates" [MGI:hdene] is_a: MP:0003421 ! abnormal thyroid gland development is_a: MP:0006031 ! abnormal branchial pouch morphology [Term] id: MP:0003956 name: abnormal body size def: "anomaly in the average body weight, height and/or length of an organism compared to controls" [MGI:csmith] subset: Europhenome_Terms is_a: MP:0002089 ! abnormal postnatal growth/weight/body size [Term] id: MP:0003957 name: abnormal nitric oxide homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of nitric oxide, a free radical gas and a potent vasodilator" [MGI:csmith] synonym: "abnormal endothelium derived relaxation factor homeostasis" EXACT [] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0003958 name: heart valve hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the heart valves" [MGI:anna] synonym: "hyperplastic cardiac valves" EXACT [] synonym: "hyperplastic heart valves" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology [Term] id: MP:0003959 name: abnormal lean body mass def: "aberrant fat-free physical bulk or volume of the body including all its components except adipose and bone tissue" [MGI:honda] is_a: MP:0002089 ! abnormal postnatal growth/weight/body size [Term] id: MP:0003960 name: increased lean body mass def: "more than average fat-free physical bulk or volume of the body including all its components except adipose and bone tissue" [MGI:honda] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0003959 ! abnormal lean body mass [Term] id: MP:0003961 name: decreased lean body mass def: "less than average fat-free physical bulk or volume of the body including all its components except adipose and bone tissue" [MGI:honda] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced lean body mass" EXACT [] is_a: MP:0003959 ! abnormal lean body mass [Term] id: MP:0003962 name: abnormal adrenaline level alt_id: MP:0003835 def: "aberrant concentration in the blood or tissues of this catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [MESH:D02.033.100.291.310, MGI:pvb] synonym: "abnormal adrenal adrenaline level" NARROW [] synonym: "abnormal adrenal epinephrine level" NARROW [] is_a: MP:0003953 ! abnormal hormone level is_a: MP:0011479 ! abnormal catecholamine level [Term] id: MP:0003963 name: abnormal corticosterone level alt_id: MP:0003837 def: "anomalous blood or tissue amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [ISBN:0-683-40008-8, MGI:smb] synonym: "abnormal adrenal corticosterone level" EXACT [] is_a: MP:0001547 ! abnormal lipid level is_a: MP:0003953 ! abnormal hormone level [Term] id: MP:0003964 name: abnormal noradrenaline level alt_id: MP:0003836 def: "aberrant amount of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [MESH:D02.033.100.291.502, MGI:smb] synonym: "abnormal adrenal noradrenaline level" EXACT [] synonym: "abnormal adrenal norepinephrine level" EXACT [] is_a: MP:0003953 ! abnormal hormone level is_a: MP:0011479 ! abnormal catecholamine level [Term] id: MP:0003965 name: abnormal pituitary hormone level alt_id: MP:0005125 def: "aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary" [MGI:cwg] is_a: MP:0003953 ! abnormal hormone level [Term] id: MP:0003966 name: abnormal adrenocorticotropin level def: "anomaly in the level of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex" [ISBN:0-683-40008-8] synonym: "abnormal levels of ACTH" EXACT [] synonym: "abnormal levels of adrenocorticotropic hormone" EXACT [] synonym: "abnormal levels of adrenocorticotropin" EXACT [] synonym: "abnormal levels of adrenotropic hormone" EXACT [] synonym: "abnormal levels of adrenotropin" EXACT [] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003967 name: abnormal follicle stimulating hormone level def: "anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis" [ISBN:0-683-40008-8] synonym: "abnormal follitropin level" EXACT [MESH:D06.472.699.322.576.288] synonym: "abnormal FSH level" EXACT [MESH:D06.472.699.322.576.288] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003968 name: abnormal growth hormone level def: "anomalous concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization" [ISBN:0-683-40008-8] synonym: "abnormal GH level" EXACT [] synonym: "abnormal pituitary growth hormone level" EXACT [MESH:D06.472.699.631.525.425] synonym: "abnormal somatotropic hormone level" EXACT [MESH:D06.472.699.631.525.425] synonym: "abnormal somatotropin level" EXACT [MESH:D06.472.699.631.525.425] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003969 name: abnormal luteinizing hormone level def: "aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary" [MESH:D06.472.699.322.576.463, MGI:pvb] synonym: "abnormal ICSH level" EXACT [MESH:D06.472.699.322.576.463] synonym: "abnormal interstitial cell-stimulating hormone level" EXACT [MESH:D06.472.699.322.576.463] synonym: "abnormal LH level" EXACT [MESH:D06.472.699.322.576.463] synonym: "abnormal lutropin level" EXACT [MESH:D06.472.699.322.576.463] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003970 name: abnormal prolactin level def: "anomalous concentration of the hormone that stimulates milk secretion" [ISBN:0-683-40008-8] synonym: "abnormal galactopoietic hormone level" EXACT [] synonym: "abnormal lactation hormone level" EXACT [] synonym: "abnormal lactogenic hormone level" EXACT [MESH:D06.472.699.322.576.773] synonym: "abnormal lactotropin level" EXACT [] synonym: "abnormal mammotropic factor level" EXACT [] synonym: "abnormal mammotropic hormone level" EXACT [MESH:D06.472.699.322.576.773] synonym: "abnormal mammotropin level" EXACT [MESH:D06.472.699.322.576.773] synonym: "abnormal PRL level" EXACT [MESH:D06.472.699.322.576.773] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003971 name: abnormal thyroid-stimulating hormone level def: "anomalous concentration of the hormone that stimulates the growth and function of the thyroid gland" [ISBN:0-683-40008-8] synonym: "abnormal thyropic hormone level" EXACT [] synonym: "abnormal thyrotrophin level" EXACT [] synonym: "abnormal thyrotropin level" EXACT [] synonym: "abnormal TSH level" EXACT [] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003972 name: decreased pituitary hormone level alt_id: MP:0005126 def: "less than the expected amount of any of the pituitary hormones in the blood or tissues" [MGI:cwg] synonym: "decreased pituitary levels of pituitary hormone" EXACT [] synonym: "reduced pituitary hormone level" EXACT [] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003973 name: increased pituitary hormone level alt_id: MP:0005127 def: "greater than the expected amount of any of the pituitary hormones in the blood or tissues" [MGI:cwg] synonym: "increased pituitary levels of pituitary hormone" EXACT [] is_a: MP:0003965 ! abnormal pituitary hormone level [Term] id: MP:0003974 name: abnormal endocardium morphology def: "any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [MESH:A07.541.207, MGI:smb] is_a: MP:0010545 ! abnormal heart layer morphology [Term] id: MP:0003975 name: increased circulating VLDL triglyceride level def: "higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue" [MGI:brs] is_a: MP:0001552 ! increased circulating triglyceride level [Term] id: MP:0003976 name: decreased circulating VLDL triglyceride level def: "lower than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue" [MGI:brs] synonym: "reduced circulating VLDL triglyceride level" EXACT [] is_a: MP:0002644 ! decreased circulating triglyceride level [Term] id: MP:0003977 name: abnormal circulating carnitine level def: "aberrant concentration in the blood of carnitine, a quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane" [MGI:brs] is_a: MP:0005311 ! abnormal circulating amino acid level [Term] id: MP:0003978 name: decreased circulating carnitine level def: "lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane" [MGI:brs] synonym: "reduced circulating carnitine level" EXACT [] is_a: MP:0003977 ! abnormal circulating carnitine level [Term] id: MP:0003979 name: increased circulating carnitine level def: "greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane" [MGI:brs] is_a: MP:0003977 ! abnormal circulating carnitine level [Term] id: MP:0003980 name: increased circulating phospholipid level def: "greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:smb, RGD:cur] is_a: MP:0006084 ! abnormal circulating phospholipid level [Term] id: MP:0003981 name: decreased circulating phospholipid level def: "reduced concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:smb, RGD:cur] synonym: "reduced circulating phospholipid level" EXACT [] is_a: MP:0006084 ! abnormal circulating phospholipid level [Term] id: MP:0003982 name: increased cholesterol level def: "greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] is_a: MP:0003947 ! abnormal cholesterol level [Term] id: MP:0003983 name: decreased cholesterol level def: "less than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] synonym: "reduced cholesterol level" EXACT [] is_a: MP:0003947 ! abnormal cholesterol level [Term] id: MP:0003984 name: embryonic growth retardation alt_id: MP:0001692 def: "slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith] subset: Sanger_Terms synonym: "delayed embryonic development" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development is_a: MP:0002088 ! abnormal embryonic growth/weight/body size is_a: MP:0010865 ! prenatal growth retardation [Term] id: MP:0003985 name: renal fibrosis def: "formation of fibrous tissue in the kidney as a result of repair or a reactive process" [MGI:csmith] synonym: "kidney fibrosis" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003986 name: small cochlear ganglion def: "reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [MGI:monikat] is_a: MP:0002855 ! abnormal cochlear ganglion morphology [Term] id: MP:0003987 name: small vestibular ganglion def: "reduced size of the vestibular ganglion or of the sensory neuron cell bodies associated with the eighth cranial nerve" [MGI:monikat] synonym: "small Scarpa ganglion" EXACT [] is_a: MP:0002856 ! abnormal vestibular ganglion morphology [Term] id: MP:0003988 name: disorganized embryonic tissue def: "a lack of the regular arrangement of any embryonic tissues" [J:58080, MGI:anna] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0003989 name: abnormal barrel cortex morphology def: "any structural anomaly of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae" [MGI:monikat] is_a: MP:0000860 ! abnormal primary somatosensory cortex morphology [Term] id: MP:0003990 name: decreased neurotransmitter release def: "reduced production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [MGI:csmith] synonym: "reduced neurotransmitter release" EXACT [] is_a: MP:0005445 ! abnormal neurotransmitter secretion [Term] id: MP:0003991 name: arteriosclerosis def: "thickening, hardening and/or loss of elasticity of the walls of arteries" [MESH:C14.907.137.126] synonym: "arterial sclerosis" EXACT [] synonym: "vascular sclerosis" EXACT [] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0003992 name: increased mortality induced by ionizing radiation def: "greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death" [MGI:monikat] is_a: MP:0009763 ! increased sensitivity to induced morbidity/mortality [Term] id: MP:0003993 name: abnormal ventral spinal root morphology def: "any structural anomaly of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [MGI:brs] synonym: "abnormal anterior root morphology" EXACT [] synonym: "abnormal ventral root morphology" EXACT [] is_a: MP:0001077 ! abnormal spinal nerve morphology [Term] id: MP:0003994 name: abnormal dorsal spinal root morphology def: "any structural anomaly of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [MGI:brs] synonym: "abnormal dorsal root morphology" EXACT [] synonym: "abnormal posterior root morphology" EXACT [] is_a: MP:0001077 ! abnormal spinal nerve morphology [Term] id: MP:0003995 name: abnormal uterine artery morphology def: "any structural anomaly of the branch of the internal iliac artery that supplies the uterus and the upper part of the vagina" [MGI:monikat] synonym: "abnormal metral artery morphology" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0003996 name: clonic seizures def: "increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle" [MGI:smb] is_a: MP:0000947 ! convulsive seizures [Term] id: MP:0003997 name: tonic-clonic seizures def: "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [MGI:smb] synonym: "grand mal seizures" EXACT [] is_a: MP:0000947 ! convulsive seizures [Term] id: MP:0003998 name: decreased thermal nociceptive threshold def: "a lower than average point at which thermal pain sensation is first detectable" [MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased thermal nociception" EXACT [] synonym: "reduced latency in hot plate test" EXACT [] synonym: "reduced thermal nociceptive threshold" EXACT [] synonym: "thermal hyperalgesia" EXACT [] is_a: MP:0002733 ! abnormal thermal nociception is_a: MP:0005407 ! hyperalgesia [Term] id: MP:0003999 name: enhanced passive avoidance behavior def: "increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously" [MGI:smb] synonym: "improved passive avoidance behavior" RELATED [] is_a: MP:0002799 ! abnormal passive avoidance behavior is_a: MP:0003459 ! increased fear-related response [Term] id: MP:0004000 name: impaired passive avoidance behavior def: "decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously" [MGI:smb] is_a: MP:0002799 ! abnormal passive avoidance behavior is_a: MP:0003460 ! decreased fear-related response [Term] id: MP:0004001 name: decreased hepatocyte proliferation def: "reduction in the expansion rate of the hepatocyte cell population by cell division" [MGI:anna] synonym: "reduced hepatocyte proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0010080 ! abnormal hepatocyte physiology [Term] id: MP:0004002 name: abnormal jejunum morphology def: "any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum" [MGI:monikat] is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0004003 name: abnormal vascular endothelial cell physiology def: "anomaly in the function of the cells that line the vasculature" [MGI:smb] is_a: MP:0000249 ! abnormal blood vessel physiology [Term] id: MP:0004004 name: patent ductus venosus def: "failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults" [MGI:smb] is_a: MP:0000364 ! abnormal vascular regression [Term] id: MP:0004005 name: impaired contractility of intestinal smooth muscle def: "inability or reduced ability of intestinal smooth muscle to shorten or to develop increased tension" [MGI:monikat] is_a: MP:0000740 ! impaired smooth muscle contractility [Term] id: MP:0004006 name: impaired contractility of jejunal smooth muscle def: "inability or reduced ability of the jejunal smooth muscle to shorter or to develop increased tension" [MGI:monikat] is_a: MP:0004005 ! impaired contractility of intestinal smooth muscle [Term] id: MP:0004007 name: abnormal lung vasculature morphology def: "any structural anomaly of the blood vessels of the lung" [MGI:smb] is_a: MP:0001175 ! abnormal lung morphology is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0004008 name: abnormal GABA-mediated receptor currents def: "change in the measured amplitude, current density or duration of response to stimulation of GABA receptors" [MGI:smb] synonym: "abnormal gamma-amino-n-butyric acid receptor currents" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0004009 name: abnormal diastolic filling velocity def: "anomaly in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders" [RGD:cur] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0004010 name: increased diastolic filling velocity def: "greater rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders" [RGD:cur] is_a: MP:0004009 ! abnormal diastolic filling velocity [Term] id: MP:0004011 name: decreased diastolic filling velocity def: "reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders" [RGD:cur] synonym: "reduced diastolic filling velocity" EXACT [] is_a: MP:0004009 ! abnormal diastolic filling velocity [Term] id: MP:0004012 name: increased pulmonary artery pressure def: "increased pulmonary pressure compared to controls" [RGD:cur] is_a: MP:0003547 ! abnormal pulmonary pressure [Term] id: MP:0004013 name: decreased pulmonary artery pressure def: "reduced pulmonary pressure compared to controls" [RGD:cur] synonym: "reduced pulmonary artery pressure" EXACT [] is_a: MP:0003547 ! abnormal pulmonary pressure [Term] id: MP:0004014 name: abnormal uterine environment def: "anomaly or inability of the uterus to support embryonic development" [MGI:llw2] synonym: "abnormal metral environment" EXACT [] is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0004015 name: abnormal oviduct environment def: "anomaly or inability of the oviduct to support egg viability" [MGI:llw2] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0004016 name: decreased bone mass def: "a reduction in the total amount of bone tissue contained in the skeleton" [MGI:monikat] synonym: "reduced bone mass" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0004017 name: duplex kidney def: "a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [MGI:rbabiuk] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0004018 name: abnormal galactose homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues" [MGI:csmith] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0004019 name: abnormal vitamin homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of organic substances found in food and are not synthesized by the body and are necessary in trace amounts for normal metabolic function" [MESH:D27.505.696.377.605.600, MGI:csmith] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0004020 name: polyhydramnios def: "abnormally high amniotic fluid volume; may result from maternal diabetes, chromosomal abnormalities or other congenital abnormalities" [MGI:monikat] is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0004021 name: abnormal rod electrophysiology def: "any functional anomaly of dark adapted vision mediated by the rods" [MGI:smb] synonym: "abnormal scotopic response" EXACT [] is_a: MP:0005551 ! abnormal eye electrophysiology [Term] id: MP:0004022 name: abnormal cone electrophysiology def: "any functional anomaly of light adapted vision mediated by the cones" [MGI:smb] synonym: "abnormal photopic response" EXACT [] is_a: MP:0005551 ! abnormal eye electrophysiology [Term] id: MP:0004023 name: abnormal chromosome number def: "chromosome count is other than the expected diploid chromosome number" [MGI:llw2] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0004024 name: aneuploidy def: "chromosome count is not an exact multiple of the haploid number" [ISBN:0-683-40008-8, MGI:llw2] is_a: MP:0004023 ! abnormal chromosome number [Term] id: MP:0004025 name: polyploidy def: "more than two chromosome sets are present" [MGI:llw2] is_a: MP:0004023 ! abnormal chromosome number [Term] id: MP:0004026 name: monosomy def: "one chromosome missing from an otherwise diploid chromosome set" [MGI:llw2] is_a: MP:0004024 ! aneuploidy [Term] id: MP:0004027 name: trisomy def: "presence of an extra chromosome in an otherwise diploid chromosome set" [MGI:llw2] is_a: MP:0004024 ! aneuploidy [Term] id: MP:0004028 name: chromosome breakage alt_id: MP:0002008 def: "chromosome instability in the form of increased frequency of spontaneous breakage with or without rearrangements" [MGI:llw2] is_a: MP:0008866 ! chromosomal instability [Term] id: MP:0004029 name: spontaneous chromosome breakage def: "chromosome breakage due to inherent instability of chromosomes" [MGI:llw2] is_a: MP:0004028 ! chromosome breakage [Term] id: MP:0004030 name: induced chromosome breakage def: "chromosome breakage following treatment with a DNA-damaging agent" [MGI:llw2] is_a: MP:0004028 ! chromosome breakage [Term] id: MP:0004031 name: insulitis def: "a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells" [MGI:rbabiuk] is_a: MP:0001869 ! pancreas inflammation [Term] id: MP:0004032 name: abnormal interventricular groove morphology def: "any structural anomaly of the indentation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior" [MGI:smb] synonym: "abnormal interventricular sulcus morphology" EXACT [] is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0004033 name: supernumerary teeth def: "occurrence of more than the usual number of teeth" [MGI:rbabiuk] synonym: "increased number of teeth" EXACT [] synonym: "increased tooth number" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0004034 name: belly blaze def: "the appearance of a stripe or zigzag of white fur on the ventrum" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0004035 name: abnormal sublingual gland morphology def: "any structural anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland" [MGI:hdene] synonym: "abnormal Rivinus gland morphology" EXACT [] is_a: MP:0003792 ! abnormal major salivary gland morphology [Term] id: MP:0004036 name: abnormal muscle relaxation def: "altered ability of the muscle to lengthen following contractions" [MGI:monikat] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0004037 name: increased muscle relaxation def: "greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions" [MGI:monikat] is_a: MP:0004036 ! abnormal muscle relaxation [Term] id: MP:0004038 name: lymphangiectasis alt_id: Fyler:4042 alt_id: MP:0010201 def: "dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma" [ISBN:0-683-40008-8, MGI:anna] subset: CvDC_Terms synonym: "dilated lymphatic vessels" EXACT [] synonym: "lymphatic vessel dilation" EXACT [] synonym: "lymphectasia" EXACT [] synonym: "telangiectasia lymphatica" EXACT [] is_a: MP:0010200 ! enlarged lymphatic vessel [Term] id: MP:0004039 name: abnormal cardiac cell glucose uptake def: "anomalous ability of the cells of the heart to take in glucose" [MGI:monikat] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0004130 ! abnormal muscle cell glucose uptake [Term] id: MP:0004040 name: altered susceptibility to kidney reperfusion injury def: "a change in the likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia" [MGI:brs] synonym: "abnormal resistance to kidney reperfusion injury" EXACT [] is_a: MP:0002136 ! abnormal kidney physiology is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0004041 name: increased susceptibility to kidney reperfusion injury def: "an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia" [MGI:brs] synonym: "decreased resistance to kidney reperfusion injury" EXACT [] is_a: MP:0004040 ! altered susceptibility to kidney reperfusion injury [Term] id: MP:0004042 name: decreased susceptibility to kidney reperfusion injury def: "a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia" [MGI:brs] synonym: "increased resistance to kidney reperfusion injury" EXACT [] synonym: "reduced susceptibility to kidney reperfusion injury" EXACT [] is_a: MP:0004040 ! altered susceptibility to kidney reperfusion injury is_a: MP:0005166 ! decreased susceptibility to injury [Term] id: MP:0004043 name: abnormal pH regulation def: "anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion" [MGI:csmith] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0004044 name: aortic dissection def: "a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm" [MGI:anna] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0004045 name: abnormal cell cycle checkpoint function def: "anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable" [MGI:smb] is_a: MP:0003077 ! abnormal cell cycle [Term] id: MP:0004046 name: abnormal mitosis def: "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis)" [MGI:smb] is_a: MP:0003077 ! abnormal cell cycle [Term] id: MP:0004047 name: abnormal milk composition def: "anomaly in the protein or lipid content or the appearance of milk" [MGI:smb] is_a: MP:0001882 ! abnormal lactation [Term] id: MP:0004048 name: increased resistance to addictive substance def: "OBSOLETE. increased threshold to obtain a physiological or behavioral response to an addictive substance" [MGI:csmith] synonym: "decreased sensitivity to addictive substance" EXACT [] synonym: "decreased susceptibility to addictive substance" EXACT [] is_obsolete: true [Term] id: MP:0004049 name: acute promyelocytic leukemia def: "rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal promyelocytes and myelocytes" [ISBN:0-683-40008-8] is_a: MP:0002026 ! leukemia [Term] id: MP:0004050 name: abnormal renal sympathetic nerve activity is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0004051 name: increased renal sympathetic nerve activity is_a: MP:0004050 ! abnormal renal sympathetic nerve activity [Term] id: MP:0004052 name: decreased renal sympathetic nerve activity synonym: "reduced renal sympathetic nerve activity" EXACT [] is_a: MP:0004050 ! abnormal renal sympathetic nerve activity [Term] id: MP:0004053 name: abnormal synchondrosis def: "anomalous or persistent cartilaginous fusion of two bones" [MGI:smb] is_a: MP:0000164 ! abnormal cartilage development [Term] id: MP:0004054 name: abnormal periocular mesenchyme morphology def: "any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye" [MGI:smb] is_a: MP:0001286 ! abnormal eye development is_a: MP:0011260 ! abnormal head mesenchyme morphology [Term] id: MP:0004055 name: atrium hypoplasia def: "underdevelopment or reduced size of one or both of the two upper chambers of the heart, usually due to reduced cell number" [MGI:anna] synonym: "atria hypoplasia" EXACT [] synonym: "atrial hypoplasia" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology [Term] id: MP:0004056 name: abnormal myocardium compact layer morphology alt_id: MP:0010550 def: "any structural anomaly of the outer, dense layer of the myocardium uniting the epicardium and myocardium" [http://www.dorlands.com/, MGI:anna] comment: Note that the synonyms "subepicardium layer" and "subepicardial layer" are used in older literature to refer to the myocardium compact layer. synonym: "abnormal compact subepicardial layer morphology" EXACT [] synonym: "abnormal compact subepicardial myocardium morphology" RELATED [] synonym: "abnormal heart compact layer" EXACT [] synonym: "abnormal myocardial compact layer morphology" EXACT [] synonym: "abnormal subepicardial layer morphology" EXACT [] synonym: "abnormal subepicardium layer morphology" RELATED [] synonym: "abnormal subepicardium morphology" EXACT [] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0004057 name: thin myocardium compact layer def: "reduced thickness of the outer, dense layer of the myocardium" [MGI:anna] synonym: "thin myocardial compact layer" EXACT [] is_a: MP:0004056 ! abnormal myocardium compact layer morphology [Term] id: MP:0004058 name: abnormal ventricle papillary muscle morphology alt_id: MP:0004059 def: "any structural anomaly of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle" [MGI:anna] synonym: "abnormal musculus papillaris" EXACT [] synonym: "abnormal ventricular papillary muscle morphology" EXACT [] synonym: "dysplastic papillary muscle" EXACT [] synonym: "papillary muscle dysplasia" EXACT [] is_a: MP:0010499 ! abnormal ventricle myocardium morphology [Term] id: MP:0004060 name: absent papillary muscle def: "absence of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle" [MGI:anna] is_a: MP:0004058 ! abnormal ventricle papillary muscle morphology [Term] id: MP:0004061 name: papillary muscle hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the papillary muscle" [MGI:anna] synonym: "hypoplastic papillary muscle" EXACT [] is_a: MP:0004058 ! abnormal ventricle papillary muscle morphology [Term] id: MP:0004062 name: dilated heart right atrium alt_id: Fyler:2859 def: "the luminal space of the right upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:anna] subset: CvDC_Terms synonym: "dilated right atrium" EXACT [] synonym: "right atrial dilation" EXACT [] synonym: "right atrium dilation" EXACT [] is_a: MP:0003140 ! dilated heart atrium is_a: MP:0003922 ! abnormal heart right atrium morphology [Term] id: MP:0004063 name: dilated heart left atrium alt_id: Fyler:3020 def: "the luminal space of the left upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:anna] subset: CvDC_Terms synonym: "dilated left atrium" EXACT [] synonym: "left atrial dilation" EXACT [] synonym: "left atrium dilation" EXACT [] is_a: MP:0003140 ! dilated heart atrium is_a: MP:0003923 ! abnormal heart left atrium morphology [Term] id: MP:0004064 name: decreased susceptibility to induced muscular atrophy def: "less than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc)" [MGI:smb] synonym: "increased resistance to induced muscular atrophy" EXACT [] is_a: MP:0002269 ! muscular atrophy [Term] id: MP:0004065 name: increased susceptibility to induced muscular atrophy def: "greater than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc)" [MGI:smb] synonym: "decreased resistance to induced muscular atrophy" EXACT [] is_a: MP:0002269 ! muscular atrophy [Term] id: MP:0004066 name: abnormal primitive node morphology def: "any structural anomaly of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorly to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo" [MGI:csmith] synonym: "abnormal embryonic node morphology" EXACT [] synonym: "abnormal Hensen's node morphology" RELATED [] synonym: "abnormal Henson's node morphology" RELATED [] synonym: "abnormal primitive knot morphology" EXACT [] synonym: "abnormal prochordal knot morphology" EXACT [] synonym: "abnormal Spemann's organizer morphology" RELATED [] is_a: MP:0002231 ! abnormal primitive streak morphology [Term] id: MP:0004067 name: abnormal trabecula carnea morphology def: "any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [MGI:monikat] synonym: "abnormal columnae carneae morphology" EXACT [] synonym: "abnormal fleshy beams" EXACT [] synonym: "abnormal Rathke bundle morphology" RELATED [] synonym: "abnormal ventricular trabeculae morphology" EXACT [] is_a: MP:0002189 ! abnormal myocardial trabeculae morphology is_a: MP:0010499 ! abnormal ventricle myocardium morphology [Term] id: MP:0004068 name: dilated dorsal aorta def: "stretched or widened aperture of the luminal space of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [MGI:csmith] synonym: "dorsal aorta dilation" EXACT [] is_a: MP:0004787 ! abnormal dorsal aorta morphology [Term] id: MP:0004069 name: abnormal muscle spindle morphology def: "any structural anomaly of the sensory organs in muscle that are involved in the stretch reflex" [ISBN:0838580343, MGI:csmith] synonym: "abnormal Kuhne spindle" EXACT [] synonym: "abnormal neuromuscular spindle morphology" EXACT [] is_a: MP:0000990 ! abnormal skeletal muscle mechanoreceptor morphology [Term] id: MP:0004070 name: abnormal P wave def: "any anomaly in the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems" [MGI:anna] is_a: MP:0006142 ! abnormal sinoatrial node conduction is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature [Term] id: MP:0004071 name: prolonged P wave def: "increase in the length of time of the P wave electrical impulses, measured from the beginning to the end of the P wave" [MGI:anna] synonym: "increased P wave width" EXACT [] is_a: MP:0004070 ! abnormal P wave is_a: MP:0010520 ! sinoatrial block [Term] id: MP:0004072 name: abnormal frontal plane axis def: "any anomaly found in the sum of all electrical currents in the heart during systole" [MGI:anna] synonym: "abnormal electrical axis of the heart" EXACT [] is_a: MP:0003137 ! abnormal impulse conducting system conduction [Term] id: MP:0004073 name: caudal body truncation def: "caudal part of body truncated; typically with the anterior portion of the body relatively normal" [MGI:csmith] is_a: MP:0005221 ! abnormal rostral-caudal axis patterning [Term] id: MP:0004074 name: abnormal Schwann cell precursor morphology def: "any structural anomaly of the progenitors of cells that sheath the axons of the peripheral nervous system" [MGI:monikat] synonym: "abnormal Schwann cell precursors" BROAD [] is_a: MP:0001106 ! abnormal Schwann cell morphology [Term] id: MP:0004075 name: decreased Schwann cell precursor number def: "fewer numbers than normal of the progenitors of cells that sheath the axons of the peripheral nervous system" [MGI:monikat] synonym: "reduced Schwann cell precursor number" EXACT [] is_a: MP:0004074 ! abnormal Schwann cell precursor morphology [Term] id: MP:0004076 name: abnormal vitelline vascular remodeling def: "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [MGI:smb] is_a: MP:0001718 ! abnormal visceral yolk sac morphology is_a: MP:0003229 ! abnormal vitelline vasculature morphology [Term] id: MP:0004077 name: abnormal striatum morphology def: "any structural anomaly of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [ISBN:0838580343] synonym: "abnormal neostriatum morphology" EXACT [] synonym: "abnormal striate body" EXACT [] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0004078 name: abnormal caudate nucleus morphology def: "any structural anomaly of one or both C-shaped structures containing input neurons involved with control of voluntary movement in the brain" [ISBN:0838580343] is_a: MP:0004102 ! abnormal dorsal striatum morphology [Term] id: MP:0004079 name: abnormal putamen morphology def: "any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain" [ISBN:0838580343] is_a: MP:0004102 ! abnormal dorsal striatum morphology [Term] id: MP:0004080 name: abnormal nucleus accumbens morphology def: "any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances" [ISBN:0838580343] synonym: "abnormal accumbens nucleus morphology" EXACT [] synonym: "abnormal Nacc morphology" EXACT [] is_a: MP:0004103 ! abnormal ventral striatum morphology is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0004081 name: abnormal globus pallidus morphology def: "any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment" [ISBN:0838580343] synonym: "abnormal paleostriatum" EXACT [] synonym: "abnormal pallidum morphology" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0004082 name: abnormal habenula morphology def: "any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone" [MGI:csmith] comment: Note that the habenula term originally denoted the stalk of the pineal gland, but now refers to the habenular nucleus, a neighboring group of neurons in the epithalamus. synonym: "abnormal habenular nucleus morphology" EXACT [] is_a: MP:0000840 ! abnormal epithalamus morphology [Term] id: MP:0004083 name: polysyndactyly def: "greater than the normal complement of digits present on an autopod with interdigital webbing also present" [MGI:rbabiuk] subset: Sanger_Terms synonym: "polydactylous syndactyly" EXACT [] synonym: "synpolydactyly" EXACT [] is_a: MP:0000562 ! polydactyly is_a: MP:0000564 ! syndactyly [Term] id: MP:0004084 name: abnormal cardiac muscle relaxation def: "altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min" [MGI:monikat] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0004036 ! abnormal muscle relaxation [Term] id: MP:0004085 name: abnormal heartbeat def: "anomaly in the appearance of regularly spaced contractions of the heart" [MGI:csmith] synonym: "abnormal heart beat" EXACT [] synonym: "abnormal heart rhythm" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0004086 name: absent heartbeat def: "lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)" [MGI:anna] synonym: "asystole" EXACT [] is_a: MP:0004085 ! abnormal heartbeat [Term] id: MP:0004087 name: abnormal muscle fiber morphology def: "any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [MGI:csmith] synonym: "muscle fiber dysplasia" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0004088 name: abnormal sarcoplasmic reticulum morphology def: "any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere" [MGI:anna] is_a: MP:0004087 ! abnormal muscle fiber morphology [Term] id: MP:0004089 name: dilated sarcoplasmic reticulum def: "an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere" [MGI:anna] synonym: "sarcoplasmic reticulum dilation" EXACT [] is_a: MP:0004088 ! abnormal sarcoplasmic reticulum morphology [Term] id: MP:0004090 name: abnormal sarcomere morphology def: "any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0004087 ! abnormal muscle fiber morphology [Term] id: MP:0004091 name: abnormal Z lines def: "any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [MGI:anna] synonym: "abnormal intermediate disk" EXACT [] synonym: "abnormal Z band" EXACT [] synonym: "abnormal Z disk" EXACT [] is_a: MP:0004090 ! abnormal sarcomere morphology [Term] id: MP:0004092 name: absent Z lines def: "missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [MGI:anna] is_a: MP:0004091 ! abnormal Z lines [Term] id: MP:0004093 name: diffuse Z lines def: "widely spread cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [MGI:anna] is_a: MP:0004091 ! abnormal Z lines [Term] id: MP:0004094 name: abnormal M lines def: "any structural anomaly of the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments" [MGI:anna] is_a: MP:0004090 ! abnormal sarcomere morphology [Term] id: MP:0004095 name: ocular distichiasis def: "presence of a double row of eyelashes on an eyelid, one or both of which are turned in against the eyeball" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0004096 name: abnormal midbrain-hindbrain boundary development def: "anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate" [MGI:csmith] is_a: MP:0003864 ! abnormal midbrain development [Term] id: MP:0004097 name: abnormal cerebellar cortex morphology def: "any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [ISBN:0838580343, MGI:csmith] is_a: MP:0000849 ! abnormal cerebellum morphology [Term] id: MP:0004098 name: abnormal cerebellar granule cell morphology def: "any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [ISBN:0838580343] synonym: "abnormal cerebellar granule neuron morphology" EXACT [] synonym: "abnormal granule cell" BROAD [] synonym: "abnormal granule neuron" BROAD [] xref: CL:0001031 is_a: MP:0000886 ! abnormal cerebellar granule layer [Term] id: MP:0004099 name: abnormal cerebellar glomerulus morphology def: "any structural anomaly of an intertwined cluster of nerve fibers surrounded by glia where mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons" [ISBN:0838580343] synonym: "abnormal cerebellar glomeruli" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer [Term] id: MP:0004100 name: abnormal spinal cord interneuron morphology def: "any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord" [MGI:csmith] is_a: MP:0008503 ! abnormal spinal cord grey matter morphology [Term] id: MP:0004101 name: abnormal brain interneuron morphology def: "any structural anomaly of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types" [MGI:csmith] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0004102 name: abnormal dorsal striatum morphology def: "any structural anomaly of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure" [ISBN:0-683-40008-8] synonym: "abnormal caudate putamen complex" EXACT [] synonym: "abnormal caudate-putamen morphology" EXACT [] synonym: "abnormal caudatoputamen morphology" EXACT [] synonym: "abnormal dorsal basal ganglia" EXACT [] is_a: MP:0004077 ! abnormal striatum morphology [Term] id: MP:0004103 name: abnormal ventral striatum morphology def: "any structural anomaly of the regions of the nucleus accumbens and some nuclei of the olfactory tubercle that lie ventral to the anterior commissure" [ISBN:0-683-40008-8] is_a: MP:0004077 ! abnormal striatum morphology [Term] id: MP:0004105 name: corneal abrasion def: "scraping away or denuding of the corneal surface" [MGI:anna] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0004106 name: lymphatic vessel hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in lymphatic vessels" [MGI:anna] is_a: MP:0010200 ! enlarged lymphatic vessel [Term] id: MP:0004107 name: abnormal thoracic duct morphology def: "any structural anomaly in the largest collecting lymph vessel in the body, beginning at the cisterna chyli at about the level of the second lumbar vertebra, and drains into the systemic (blood) circulation at the left brachiocephalic vein between the left subclavian and left internal jugular veins" [MGI:anna, MGI:csmith] synonym: "abnormal alimentary duct morphology" EXACT [] synonym: "abnormal chyliferous duct morphology" EXACT [] synonym: "abnormal ductus thoracicus morphology" EXACT [] synonym: "abnormal left lymphatic duct morphology" EXACT [] synonym: "abnormal Pecquet duct morphology" EXACT [] synonym: "abnormal Van Hoorne's canal morphology" EXACT [] synonym: "abnormal van Horne canal morphology" EXACT [] is_a: MP:0001879 ! abnormal lymphatic vessel morphology [Term] id: MP:0004108 name: abnormal esophageal peristalsis def: "altered esophageal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls that move the esophagus contents forward" [MGI:csmith] is_a: MP:0011082 ! abnormal gastrointestinal motility [Term] id: MP:0004109 name: abnormal Sertoli cell development def: "anomalous differentiation of cells that support germ cell differentiation in males" [MGI:llw2] is_a: MP:0003830 ! abnormal testis development [Term] id: MP:0004110 name: transposition of great arteries alt_id: MP:0006127 def: "cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [MGI:monikat] subset: CvDC_Terms synonym: "discordant VA connections" EXACT [] synonym: "TGA" EXACT [] synonym: "transposition of great vessels" RELATED [] is_a: MP:0010426 ! abnormal heart and great artery attachment [Term] id: MP:0004111 name: abnormal coronary artery morphology alt_id: Fyler:3100 def: "any structural anomaly of any of the arteries that branch from the ascending aorta to supply blood to the heart" [MGI:monikat] subset: CvDC_Terms synonym: "congenital coronary anomaly" BROAD [] synonym: "coronary arterial dysplasia" EXACT [] is_a: MP:0002191 ! abnormal artery morphology is_a: MP:0010551 ! abnormal coronary vessel morphology [Term] id: MP:0004112 name: abnormal arteriole morphology def: "any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries" [MESH:A07.231.114.060] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0004113 name: abnormal aortic arch morphology alt_id: Fyler:2700 def: "any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery" [ISBN:0-683-40008-8] comment: Note that this term refers to the adult aortic arch structure. For multiple aortic arches present in the embryo, see the term for embryonic aortic arches [abnormal branchial arch artery morphology; MP:0002672]. subset: CvDC_Terms synonym: "abnormal adult aortic arch" EXACT [] synonym: "abnormal arch of aorta" EXACT [] synonym: "abnormal arch of the aorta" EXACT [] synonym: "aortic arch abnormality" EXACT [] xref: MA:0000475 is_a: MP:0010468 ! abnormal thoracic aorta morphology [Term] id: MP:0004114 name: abnormal atrioventricular node morphology def: "any structural anomaly of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus; this node gives rise to the electrical connection between the atria and ventricles and responds to the sinoatrial node" [MESH:A07.541.409.147] synonym: "abnormal A-V node" EXACT [] synonym: "abnormal atrio-ventricular node" EXACT [] synonym: "abnormal AV node" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology is_a: MP:0004123 ! abnormal impulse conducting system morphology [Term] id: MP:0004115 name: abnormal sinoatrial node morphology def: "any structural anomaly of the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atrium that is the source of contraction impulses for the heart" [MESH:A07.541.409.819] synonym: "abnormal pacemaker" EXACT [] synonym: "abnormal SA node" EXACT [] synonym: "abnormal sinu-atrial node" EXACT [] synonym: "abnormal sinuatrial node" EXACT [] synonym: "abnormal sinus node" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology is_a: MP:0004123 ! abnormal impulse conducting system morphology [Term] id: MP:0004116 name: abnormal atrioventricular bundle conduction def: "anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle" [MESH:A07.541.409.273] synonym: "abnormal bundle of His conduction" EXACT [] is_a: MP:0003137 ! abnormal impulse conducting system conduction [Term] id: MP:0004117 name: abnormal atrioventricular bundle morphology def: "any structural anomaly of the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle" [MESH:A07.541.409.273] synonym: "abnormal atrioventricular band morphology" EXACT [] synonym: "abnormal bundle of His" EXACT [] synonym: "abnormal Gaskell bridge morphology" EXACT [] synonym: "abnormal His band morphology" EXACT [] synonym: "abnormal His bundle" EXACT [] synonym: "abnormal Keith bundle morphology" EXACT [] synonym: "abnormal Kent bundle morphology" EXACT [] synonym: "abnormal Kent-His bundle morphology" RELATED [] is_a: MP:0003922 ! abnormal heart right atrium morphology is_a: MP:0004123 ! abnormal impulse conducting system morphology [Term] id: MP:0004118 name: abnormal baroreceptor morphology def: "any structural anomaly in the sensory nerve endings in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure" [ISBN:0-683-40008-8] synonym: "abnormal pressoreceptor morphology" EXACT [] is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0004119 name: hypokalemia def: "excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection" [ISBN:0-683-40008-8] is_a: MP:0005628 ! decreased circulating potassium level [Term] id: MP:0004120 name: cardiac ischemia def: "inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease" [ISBN:0-683-40008-8] is_a: MP:0006111 ! abnormal coronary circulation [Term] id: MP:0004121 name: abnormal sarcolemma morphology def: "any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses" [ISBN:0-683-40008-8] synonym: "abnormal myolemma morphology" EXACT [] is_a: MP:0004087 ! abnormal muscle fiber morphology [Term] id: MP:0004122 name: abnormal sinus arrhythmia alt_id: Fyler:7011 def: "any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal heart rate variability" RELATED [] synonym: "abnormal respiratory sinus arrythmia" EXACT [] synonym: "abnormal RSA" EXACT [] synonym: "abnormal SA" EXACT [] is_a: MP:0001629 ! abnormal heart rate [Term] id: MP:0004123 name: abnormal impulse conducting system morphology def: "any structural anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart" [MESH:A07.541.409] synonym: "abnormal bundle of Kent" EXACT [] synonym: "abnormal heart conducting system" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0004124 name: abnormal Purkinje fiber morphology def: "any structural anomaly in the cardiac muscle fibers composing the terminal portion of the heart conduction system located in the ventricle" [MESH:A07.541.409.683] is_a: MP:0004123 ! abnormal impulse conducting system morphology [Term] id: MP:0004125 name: abnormal venule morphology def: "any structural anomaly of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins" [MESH:A07.231.432.952] is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0004126 name: thin hypodermis def: "reduced thickness of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0003705 ! abnormal hypodermis morphology [Term] id: MP:0004127 name: thick hypodermis def: "increase in the width of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0003705 ! abnormal hypodermis morphology [Term] id: MP:0004129 name: abnormal respiratory quotient def: "anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls" [MGI:csmith] subset: Europhenome_Terms synonym: "abnormal respiratory coefficient" EXACT [] synonym: "abnormal respiratory exchange ratio" EXACT [] synonym: "abnormal RQ" EXACT [] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0004130 name: abnormal muscle cell glucose uptake def: "anomaly in the ability of muscle cells to take in glucose" [MGI:smb] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0004131 name: abnormal embryonic cilium morphology def: "any structural anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization" [GO:0031512, MGI:anna] synonym: "abnormal embryonic cilia morphology" EXACT [] synonym: "abnormal embryonic ciliary morphology" EXACT [] synonym: "abnormal motile primary cilia morphology" EXACT [] synonym: "abnormal motile primary cilium morphology" EXACT [] synonym: "abnormal nodal cilium morphology" EXACT [] is_a: MP:0004066 ! abnormal primitive node morphology [Term] id: MP:0004132 name: absent embryonic cilia def: "absence of cilia on the cells of the embryonic node" [MGI:anna] synonym: "absent embryonic ciliary" EXACT [] synonym: "absent motile primary cilia" EXACT [] synonym: "absent motile primary cilium" EXACT [] synonym: "absent nodal cilium" EXACT [] is_a: MP:0004131 ! abnormal embryonic cilium morphology [Term] id: MP:0004133 name: heterotaxia alt_id: Fyler:0190 alt_id: Fyler:190 def: "abnormal arrangement of organs or parts of the body in relation to each other according to the left-right axis" [MGI:anna, PMID:16461029] subset: CvDC_Terms synonym: "abnormal bilateral symmetry" EXACT [] synonym: "heterotaxis" EXACT [] synonym: "heterotaxy" EXACT [] synonym: "heterotaxy syndrome" RELATED [] xref: MPATH:712 is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0004134 name: abnormal chest morphology def: "any structural anomaly of the part of the body between the neck and the abdomen" [MGI:smb] synonym: "abnormal thorax morphology" EXACT [] is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0004135 name: abnormal mammary gland embryonic development def: "aberration in the differentiation of the mammary gland during early embryogenesis" [MGI:llw2, MGI:smb] is_a: MP:0000628 ! abnormal mammary gland development [Term] id: MP:0004136 name: abnormal tongue muscle morphology def: "any structural anomaly of the muscular portion of the tongue" [ISBN:0-683-40008-8] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0000762 ! abnormal tongue morphology [Term] id: MP:0004137 name: abnormal gastric surface mucous cell morphology def: "any structural anomaly of the mucus secreting epithelial cells that line the luminal surface of the stomach and the gastric pits which secrete mucus and HCO3- to protect the gastric surface from the acidic environment of the stomach" [ISBN:0781768527, MGI:monikat] synonym: "abnormal gastric surface mucous cells" BROAD [] is_a: MP:0010792 ! abnormal stomach mucosa morphology [Term] id: MP:0004138 name: abnormal mucous neck cell morphology def: "any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands" [MGI:monikat] is_a: MP:0003892 ! abnormal gastric gland morphology [Term] id: MP:0004139 name: abnormal gastric parietal cell morphology def: "any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland" [MGI:monikat] synonym: "abnormal parietal cell morphology" EXACT [] is_a: MP:0003892 ! abnormal gastric gland morphology [Term] id: MP:0004140 name: abnormal chief cell morphology def: "any structural anomaly of the pepsinogen producing epithelial cells that are clustered at the base of the gastric gland" [MGI:monikat] is_a: MP:0003892 ! abnormal gastric gland morphology [Term] id: MP:0004141 name: abnormal enteroendocrine cell morphology def: "any structural anomaly of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract" [MGI:csmith, MGI:monikat] synonym: "abnormal intestinal L cell morphology" NARROW [] synonym: "abnormal intestinal S cell morphology" NARROW [] synonym: "abnormal intestinal secretin cell morphology" NARROW [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0004142 name: abnormal muscle tone def: "anomaly in the resting tautness or laxity of a muscle, normally somewhere in the middle of the range between total contraction and total relaxation" [MGI:hdene] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0004143 name: hypertonia def: "increased muscle tension resulting in stiffness of the muscles in the resting state" [MGI:hdene] synonym: "hypertonicity" EXACT [] synonym: "hypertonus" EXACT [] synonym: "spasticity" EXACT [] is_a: MP:0004142 ! abnormal muscle tone [Term] id: MP:0004144 name: hypotonia def: "decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness" [MGI:hdene] synonym: "hypotonicity" EXACT [] synonym: "hypotonus" EXACT [] is_a: MP:0004142 ! abnormal muscle tone [Term] id: MP:0004145 name: abnormal muscle electrophysiology def: "any functional anomaly of the musculature as it relates to electrical phenomena" [MGI:csmith] synonym: "abnormal muscle electrical activity" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0004146 name: absent M lines def: "missing the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments" [MGI:anna] is_a: MP:0004094 ! abnormal M lines [Term] id: MP:0004147 name: increased porphyrin level def: "elevated concentration of porphyrins or protoporphyrins" [MGI:smb] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0004148 name: increased compact bone thickness def: "thicker than normal superficial layer of compact bone" [MGI:brs] synonym: "increased cortical bone thickness" EXACT [] is_a: MP:0000134 ! abnormal compact bone thickness [Term] id: MP:0004149 name: increased bone strength def: "increased ability of bone to endure the application of force without yielding or breaking" [MGI:brs] is_a: MP:0001542 ! abnormal bone strength [Term] id: MP:0004150 name: absent caveolae def: "absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane" [MGI:anna] is_a: MP:0003950 ! abnormal plasma membrane morphology [Term] id: MP:0004151 name: decreased circulating iron level def: "less than the normal concentration of iron in the blood" [MGI:anna] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased serum iron level" EXACT [] synonym: "hypoferremia" EXACT [] synonym: "reduced circulating iron level" EXACT [] synonym: "serum iron deficiency" EXACT [] is_a: MP:0004152 ! abnormal circulating iron level [Term] id: MP:0004152 name: abnormal circulating iron level def: "anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [ISBN:0-683-40008-8] is_a: MP:0001770 ! abnormal iron level is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0004153 name: increased renal tubule apoptosis def: "increase in the number of renal tubule cells undergoing programmed cell death" [MGI:anna] is_a: MP:0011368 ! increased kidney apoptosis [Term] id: MP:0004154 name: renal tubular necrosis def: "pathological cell death in the proximal and/or distal renal tubules, usually due to irreversible damage" [MGI:anna] is_a: MP:0002703 ! abnormal renal tubule morphology is_a: MP:0003946 ! renal necrosis [Term] id: MP:0004155 name: decreased susceptibility to induced pancreatitis def: "reduced or absent inflammatory response in the pancreatic tissue after experimental manipulation" [MGI:honda] synonym: "increased resistance to induced pancreatitis" RELATED [] is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0004156 name: abnormal QT variability def: "anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities" [MGI:anna] synonym: "abnormal QTVI" EXACT [] is_a: MP:0003899 ! abnormal QT interval [Term] id: MP:0004157 name: interrupted aortic arch alt_id: Fyler:1250 def: "complete discontinuation/blockage between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery" [MGI:monikat] subset: CvDC_Terms synonym: "IAA" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology is_a: MP:0010544 ! interrupted aorta [Term] id: MP:0004158 name: right aortic arch alt_id: Fyler:2720 def: "the aortic arch lies to the right of the trachea and esophagus; results from persistence of the entire right dorsal arch and involution of a segment of the left arch" [MGI:monikat] subset: CvDC_Terms synonym: "right sided aortic arch" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology [Term] id: MP:0004159 name: double aortic arch alt_id: Fyler:2761 def: "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body" [MGI:monikat] subset: CvDC_Terms synonym: "double-sided aortic arch" EXACT [] is_a: MP:0010466 ! vascular ring [Term] id: MP:0004160 name: retroesophageal right subclavian artery def: "the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch" [MGI:monikat] synonym: "arteria subclavia lusoria" EXACT [] is_a: MP:0010465 ! aberrant origin of the right subclavian artery [Term] id: MP:0004161 name: cervical aortic arch def: "aortic arch is located above the level of the clavicle" [MGI:monikat] is_a: MP:0004113 ! abnormal aortic arch morphology [Term] id: MP:0004162 name: abnormal mammillary body morphology def: "any structural anomaly of the protrusion at the posterior end of the hypothalamus that contains hypothalamic nuclei" [MGI:csmith] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0004163 name: abnormal adenohypophysis morphology def: "any structural anomaly of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus" [MGI:csmith] synonym: "abnormal adenophysis morphology" EXACT [] synonym: "abnormal anterior pituitary lobe" EXACT [] synonym: "abnormal pituitary anterior lobe" EXACT [] is_a: MP:0000633 ! abnormal pituitary gland morphology [Term] id: MP:0004164 name: abnormal neurohypophysis morphology def: "any structural anomaly of the posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormone" [MGI:csmith] synonym: "abnormal neurophysis morphology" EXACT [] synonym: "abnormal pituitary posterior lobe" RELATED [] is_a: MP:0000633 ! abnormal pituitary gland morphology [Term] id: MP:0004165 name: abnormal lateral geniculate nucleus morphology def: "any structural anomaly of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe" [ISBN:0-683-40008-8] synonym: "abnormal LGN morphology" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0004166 name: abnormal limbic system morphology def: "any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system" [MGI:csmith] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0004167 name: abnormal cingulate gyrus morphology def: "any structural anomaly of the ridge in the cerebral cortex located dorsal to the corpus callosum that controls autonomic functions regulating heart rate and blood pressure as well as cognitive and attentional processing" [MGI:csmith] synonym: "abnormal callosal gyrus morphology" EXACT [] synonym: "abnormal falciform lobe" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0004169 ! abnormal fornicate gyrus morphology [Term] id: MP:0004168 name: abnormal parahippocampal gyrus morphology def: "any structural anomaly of the ridge in the cerebral cortex that contains the olfactory cortex and that plays a role in the formation of topographical memory" [ISBN:0-683-40008-8] is_a: MP:0000801 ! abnormal temporal lobe morphology is_a: MP:0004169 ! abnormal fornicate gyrus morphology [Term] id: MP:0004169 name: abnormal fornicate gyrus morphology def: "any structural anomaly of the horseshoe-shaped gyrus of the cerebral cortex that consists of the cingulate gyrus and the parahippocampal gyrus" [ISBN:0-683-40008-8] synonym: "abnormal limbic lobe morphology" EXACT [] is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0004170 name: abnormal orbitofrontal cortex morphology def: "any structural anomaly of the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making" [MGI:csmith] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0000798 ! abnormal frontal lobe morphology is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0004171 name: abnormal pallium development def: "anomaly in the progression of the formation of the roof region of the telencephalon" [MGI:csmith] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0004172 name: abnormal subpallium development def: "anomaly in the progression of the formation of the base region of the telencephalon" [MGI:csmith] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0004173 name: abnormal intervertebral disk morphology def: "any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae" [MGI:smb] synonym: "abnormal intervertebral disc morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0004174 name: abnormal spine curvature def: "deviation from the typical S-shape of the spine" [MGI:smb] subset: Sanger_Terms is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0004175 name: telangiectases def: "vascular lesion formed by dilation of a group of small blood vessels" [MGI:monikat] is_a: MP:0001613 ! abnormal vasodilation [Term] id: MP:0004176 name: ear telangiectases def: "vascular lesion formed by dilation of a group of small blood vessels in the ear" [MGI:monikat] is_a: MP:0004175 ! telangiectases [Term] id: MP:0004177 name: tail telangiectases def: "vascular lesion formed by dilation of a group of small blood vessels in the tail" [MGI:monikat] is_a: MP:0004175 ! telangiectases [Term] id: MP:0004178 name: neck telangiectases def: "vascular lesion formed by dilation of a group of small blood vessels in the neck" [MGI:monikat] is_a: MP:0004175 ! telangiectases [Term] id: MP:0004179 name: transmission ratio distortion def: "the frequency that an allele or haplotype in the offspring of an organism deviates from expected Mendelian ratios" [MGI:csmith, MGI:llw2] synonym: "nonrandom segregation ratio" EXACT [] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0004180 name: failure of initiation of embryo turning def: "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage" [MGI:monikat] comment: In mouse, this event occurs at E8.5-E9.5. is_a: MP:0001700 ! abnormal embryo turning [Term] id: MP:0004181 name: abnormal carotid artery morphology def: "any structural anomaly of any of the four arteries (two on each side of the neck; right and left internal carotid arteries, and right and left external carotid arteries) that deliver oxygen-rich blood from the heart to the head and brain" [MGI:anna] is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0004182 name: abnormal spermiation def: "anomaly in the process by which mature spermatozoa release from supporting Sertoli cells into the lumen of seminiferous tubules" [MGI:llw2] is_a: MP:0001932 ! abnormal spermiogenesis [Term] id: MP:0004183 name: abnormal sympathetic nervous system physiology def: "any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations" [MGI:anna] is_a: MP:0006276 ! abnormal autonomic nervous system physiology [Term] id: MP:0004184 name: abnormal baroreceptor physiology def: "any functional anomaly of the sensory nerve endings found in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure" [MGI:anna] synonym: "abnormal baroreflex function" EXACT [] synonym: "abnormal pressoreceptor physiology" EXACT [] is_a: MP:0004183 ! abnormal sympathetic nervous system physiology [Term] id: MP:0004185 name: abnormal adipocyte glucose uptake def: "anomaly in the ability of adipocytes to take in glucose" [MGI:anna] synonym: "abnormal fat cell glucose uptake" EXACT [] is_a: MP:0005666 ! abnormal adipose tissue physiology [Term] id: MP:0004186 name: abnormal area postrema morphology def: "any structural anomaly of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology" [MGI:anna] is_a: MP:0000828 ! abnormal fourth ventricle morphology [Term] id: MP:0004187 name: cardia bifida def: "failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts" [MGI:smb] is_a: MP:0000270 ! abnormal heart tube morphology [Term] id: MP:0004188 name: delayed embryo turning def: "completion of axial rotation occurs later than in controls but is eventually completed" [MGI:smb] is_a: MP:0001700 ! abnormal embryo turning [Term] id: MP:0004189 name: abnormal alveolar process morphology def: "any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets" [MGI:smb] synonym: "abnormal alveolar body morphology" EXACT [] synonym: "abnormal alveolar bone morphology" EXACT [] synonym: "abnormal alveolar ridge morphology" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0004190 name: abnormal direction of embryo turning def: "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage; clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6] comment: In mouse, this event occurs at E8.5-E9.5. is_a: MP:0001700 ! abnormal embryo turning [Term] id: MP:0004191 name: neuronal intranuclear inclusions def: "presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease" [MGI:acv] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0004192 name: abnormal kidney pyramid morphology def: "any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex" [MGI:smb] synonym: "abnormal malpighian pyramid morphology" EXACT [] synonym: "abnormal medullary pyramid morphology" EXACT [] is_a: MP:0003014 ! abnormal kidney medulla morphology [Term] id: MP:0004193 name: abnormal kidney papilla morphology def: "any structural anomaly of the apex of the renal pyramid that projects into a calyx" [MGI:smb] is_a: MP:0004192 ! abnormal kidney pyramid morphology is_a: MP:0004194 ! abnormal kidney pelvis morphology [Term] id: MP:0004194 name: abnormal kidney pelvis morphology def: "any structural anomaly of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices" [MGI:smb] synonym: "abnormal pelvis of ureter morphology" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0004195 name: abnormal kidney calyx morphology def: "any structural anomaly of any of the branches of the renal pelvis that surround each renal papilla and collect urine" [MGI:smb] synonym: "abnormal calyx morphology" EXACT [] synonym: "abnormal kidney calicies morphology" RELATED [] synonym: "abnormal kidney calix morphology" EXACT [] synonym: "abnormal renal calix morphology" RELATED [] synonym: "abnormal renal calyx morphology" EXACT [] xref: MA:0000369 is_a: MP:0004194 ! abnormal kidney pelvis morphology [Term] id: MP:0004196 name: abnormal prenatal growth/weight/body size def: "limited or accelerated growth or development apparent before birth" [MGI:csmith] is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0004197 name: abnormal fetal growth/weight/body size def: "limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith] is_a: MP:0004196 ! abnormal prenatal growth/weight/body size [Term] id: MP:0004198 name: abnormal fetal size def: "anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith] is_a: MP:0004197 ! abnormal fetal growth/weight/body size is_a: MP:0010866 ! abnormal prenatal body size [Term] id: MP:0004199 name: increased fetal size def: "larger proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith] synonym: "enlarged fetal size" EXACT [] is_a: MP:0004198 ! abnormal fetal size [Term] id: MP:0004200 name: decreased fetal size def: "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith] synonym: "reduced fetal size" EXACT [] is_a: MP:0004198 ! abnormal fetal size [Term] id: MP:0004201 name: fetal growth retardation def: "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith] is_a: MP:0004197 ! abnormal fetal growth/weight/body size is_a: MP:0010865 ! prenatal growth retardation [Term] id: MP:0004202 name: pulmonary hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the respiratory organ in all or part of the organ" [MGI:csmith] synonym: "lung hyperplasia" EXACT [] is_a: MP:0004882 ! enlarged lung [Term] id: MP:0004203 name: abnormal cranial flexure morphology def: "any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo" [MGI:anna] synonym: "abnormal cephalic flexure morphology" EXACT [] synonym: "abnormal cerebral flexure morphology" EXACT [] synonym: "abnormal mesencephalic flexure morphology" EXACT [] is_a: MP:0003864 ! abnormal midbrain development [Term] id: MP:0004204 name: absent stapes def: "absence of the smallest and innermost of the three auditory ossicles" [MGI:anna] is_a: MP:0005107 ! abnormal stapes morphology [Term] id: MP:0004205 name: absent hyoid bone def: "absence of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [MGI:anna] synonym: "absent lingual bone" EXACT [] synonym: "absent tongue bone" EXACT [] is_a: MP:0003056 ! abnormal hyoid bone morphology [Term] id: MP:0004206 name: abnormal dermomyotome development def: "any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue" [J:50279, MGI:anna] synonym: "abnormal dermamyotome development" EXACT [] is_a: MP:0000737 ! abnormal myotome development [Term] id: MP:0004207 name: squamous cell carcinoma def: "a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix" [MGI:rbabiuk] synonym: "SCC" EXACT [] is_a: MP:0002038 ! carcinoma [Term] id: MP:0004208 name: basal cell carcinoma def: "a slow-growing, invasive, but usually non-metastasizing neoplasm that originates from basal keratinocytes in the epidermis" [MGI:rbabiuk] synonym: "skin basal cell carcinoma" RELATED [] is_a: MP:0002038 ! carcinoma is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0004209 name: abnormal sweet taste sensitivity def: "changes in the ability to perceive a particular flavor or suggestion of something sweet by the chemoreceptors of the gustatory system" [MGI:csmith] is_a: MP:0001986 ! abnormal taste sensitivity [Term] id: MP:0004210 name: abnormal bitter taste sensitivity def: "changes in the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system" [MGI:csmith] is_a: MP:0001986 ! abnormal taste sensitivity [Term] id: MP:0004211 name: abnormal sour taste sensitivity def: "changes in the ability to perceive a particular flavor or suggestion of something sour by the chemoreceptors of the gustatory system" [MGI:csmith] is_a: MP:0001986 ! abnormal taste sensitivity [Term] id: MP:0004212 name: abnormal salty taste sensitivity def: "changes in the ability to perceive a particular flavor or suggestion of something salty by the chemoreceptors of the gustatory system" [MGI:csmith] is_a: MP:0001986 ! abnormal taste sensitivity [Term] id: MP:0004213 name: abnormal umami taste sensitivity def: "changes in the ability to perceive a particular flavor or suggestion of something umami (savory) by the chemoreceptors of the gustatory system" [MGI:csmith] is_a: MP:0001986 ! abnormal taste sensitivity [Term] id: MP:0004214 name: abnormal long bone diaphysis morphology def: "any structural anomaly of the main or mid section (shaft) of a long bone" [MGI:monikat] synonym: "abnormal long bone shaft morphology" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0004215 name: abnormal myocardial fiber physiology def: "anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart" [MGI:smb] synonym: "abnormal adult cardiomyocyte physiology" EXACT [] synonym: "abnormal cardiac muscle cell physiology" EXACT [] synonym: "abnormal cardiac myocyte physiology" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0004216 name: salt-resistant hypertension def: "sustained high blood pressure that is maintained regardless of the amount of salt consumed in the diet" [MGI:csmith] is_a: MP:0000231 ! hypertension [Term] id: MP:0004217 name: salt-sensitive hypertension def: "sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet" [MGI:csmith] synonym: "salt-induced hypertension" EXACT [] is_a: MP:0000231 ! hypertension [Term] id: MP:0004218 name: meiotic nondisjunction during M1 phase def: "abnormal separation of pairs of homologous chromosomes during anaphase of the first meiotic division such that each daughter cell receives one set of paired chromosomes" [MGI:csmith] is_a: MP:0009566 ! meiotic nondisjunction [Term] id: MP:0004219 name: meiotic nondisjunction during M2 phase def: "abnormal separation of chromosomes during anaphase of the second meiotic division such that one complete chromosome goes to each daughter cell" [MGI:csmith] is_a: MP:0009566 ! meiotic nondisjunction [Term] id: MP:0004220 name: abnormal peripheral nervous system regeneration def: "changes in the ability or inability of healthy peripheral nervous system tissue to regenerate following injury or disease" [MGI:csmith] synonym: "abnormal PNS regeneration" EXACT [] is_a: MP:0004858 ! abnormal nervous system regeneration [Term] id: MP:0004221 name: abnormal iridocorneal angle def: "any structural anomaly of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye" [MGI:anna, PMID:8652890] subset: Sanger_Terms synonym: "abnormal angle of the iris" EXACT [] synonym: "abnormal anterior chamber angle" EXACT [] synonym: "abnormal filtration angle" EXACT [] is_a: MP:0005198 ! abnormal aqueous drainage system morphology [Term] id: MP:0004222 name: iris synechia def: "an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma" [MGI:anna] synonym: "iris synechiae" EXACT [] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0004223 name: hypoplastic trabecular meshwork def: "reduced size of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates" [MESH:A09.371.060.932, MGI:anna] is_a: MP:0005203 ! abnormal trabecular meshwork morphology [Term] id: MP:0004224 name: absent trabecular meshwork def: "absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates" [MESH:A09.371.060.932, MGI:anna] is_a: MP:0005203 ! abnormal trabecular meshwork morphology [Term] id: MP:0004225 name: patent foramen ovale alt_id: Fyler:2020 def: "incomplete closure of the atrial septum after birth, resulting in a flap or a valve-like opening in the atrial septal wall" [MGI:anna] subset: CvDC_Terms synonym: "persistent foramen ovale" EXACT [] synonym: "PFO" EXACT [] is_a: MP:0000282 ! abnormal interatrial septum morphology [Term] id: MP:0004226 name: absent Schlemm's canal def: "absence of the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0005204 ! abnormal canal of Schlemm morphology [Term] id: MP:0004227 name: increased cellular sensitivity to ionizing radiation def: "increased incidence of cell death following exposure to high levels of ionizing radiation" [MGI:csmith] synonym: "decreased cellular resistance to ionizing radiation" EXACT [] synonym: "increased cellular susceptibility to ionizing radiation" EXACT [] is_a: MP:0008943 ! increased sensitivity to induced cell death [Term] id: MP:0004228 name: decreased cellular sensitivity to ionizing radiation def: "decreased incidence of cell death following exposure to high levels of ionizing radiation" [MGI:csmith] synonym: "decreased cellular susceptibility to ionizing radiation" EXACT [] synonym: "increased cellular resistance to ionizing radiation" EXACT [] synonym: "reduced cellular sensitivity to ionizing radiation" EXACT [] is_a: MP:0008944 ! decreased sensitivity to induced cell death [Term] id: MP:0004229 name: abnormal embryonic erythropoiesis def: "anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans" [MGI:smb] synonym: "abnormal primitive erythropoiesis" EXACT [] is_a: MP:0003396 ! abnormal embryonic hematopoiesis [Term] id: MP:0004230 name: abnormal embryonic erythrocyte morphology def: "any structural anomaly of the embryonic blood cells that carry oxygen; embryonic erythrocytes arise from yolk sac blood islands and express different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes, and can enucleate in circulation" [MGI:csmith] synonym: "abnormal primary erythrocyte morphology" RELATED [] synonym: "abnormal primitive erythroblast morphology" EXACT [] synonym: "abnormal primitive erythrocyte morphology" EXACT [] synonym: "abnormal primitive erythroid cell morphology" EXACT [] synonym: "abnormal primitive red blood cell morphology" EXACT [] xref: CL:0002355 is_a: MP:0004229 ! abnormal embryonic erythropoiesis [Term] id: MP:0004231 name: abnormal calcium ion homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment" [MGI:csmith] xref: GO:0006874 is_a: MP:0001765 ! abnormal ion homeostasis [Term] id: MP:0004232 name: decreased muscle weight def: "less than average muscle weight" [MGI:csmith] synonym: "reduced muscle weight" EXACT [] is_a: MP:0004233 ! abnormal muscle weight [Term] id: MP:0004233 name: abnormal muscle weight def: "any anomaly in the average muscle weight" [MGI:csmith] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0004234 name: abnormal masticatory muscle morphology def: "any structural anomaly of any of the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles" [MESH:A02.633.567.600, MGI:anna] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0004235 name: abnormal masseter muscle morphology def: "any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing" [MESH:A02.633.567.600.500, MGI:anna] is_a: MP:0004234 ! abnormal masticatory muscle morphology [Term] id: MP:0004236 name: absent masseter muscle def: "absence of the masticatory muscle of posterior cheek" [MGI:anna] is_a: MP:0004235 ! abnormal masseter muscle morphology [Term] id: MP:0004237 name: abnormal pterygoid muscle morphology def: "any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side" [MESH:A02.633.567.600.700, MGI:anna] is_a: MP:0004234 ! abnormal masticatory muscle morphology [Term] id: MP:0004238 name: absent pterygoid muscle def: "absence of either the internal or external or of both pterygoid muscles" [MGI:anna] is_a: MP:0004237 ! abnormal pterygoid muscle morphology [Term] id: MP:0004239 name: abnormal temporalis muscle morphology def: "any structural anomaly of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible" [MESH:A02.633.567.600.850, MGI:anna] synonym: "abnormal musculus temporalis" EXACT [] synonym: "abnormal temporal muscle" EXACT [MESH:A02.633.567.600.850] synonym: "abnormal temporalis" EXACT [] is_a: MP:0004234 ! abnormal masticatory muscle morphology [Term] id: MP:0004240 name: absent temporalis muscle def: "absence of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible" [MESH:A02.633.567.600.850, MGI:anna] synonym: "absent musculus temporalis" EXACT [] synonym: "absent temporal muscle" EXACT [] synonym: "absent temporalis" EXACT [] is_a: MP:0004239 ! abnormal temporalis muscle morphology [Term] id: MP:0004241 name: acantholysis def: "separation of prickle cells of the spinous layer of the epidermis, resulting in atrophy of the prickle cell layer, as in conditions such as pemphigus vulgaris and Darier disease" [MESH:C17.800.865.070] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0004242 name: abnormal plasmacytoid dendritic cell morphology def: "any structural anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance" [MGI:csmith, PMID:10449155, PMID:15596797] synonym: "abnormal DC2" EXACT [] synonym: "abnormal lymphoid dendritic cell" EXACT [] synonym: "abnormal pDC" EXACT [] synonym: "abnormal plasmacytoid monocytes" EXACT [] synonym: "abnormal plasmacytoid T cell" EXACT [] synonym: "abnormal T-associated plasma cells" EXACT [] is_a: MP:0005461 ! abnormal dendritic cell morphology [Term] id: MP:0004243 name: abnormal motor nerve collateral sprouting def: "aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease)" [MGI:csmith] synonym: "abnormal motor nerve nodal sprouting" NARROW [] synonym: "abnormal motor nerve terminal sprouting" NARROW [] is_a: MP:0010726 ! abnormal collateral sprouting [Term] id: MP:0004244 name: abnormal spontaneous abortion rate def: "change in frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother" [MGI:anna] synonym: "miscarriage" RELATED [] synonym: "spontaneous abortion" RELATED [] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0004245 name: genital hemorrhage def: "bleeding into the genitals" [MGI:anna] is_a: MP:0001914 ! hemorrhage is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0004246 name: abnormal extensor digitorum longus morphology def: "any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle" [MGI:smb] synonym: "abnormal EDL morphology" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0004247 name: small pancreas def: "decrease of the size of the pancreas compared to controls" [MGI:monikat] is_a: MP:0009106 ! abnormal pancreas size [Term] id: MP:0004248 name: abnormal epaxial muscle morphology def: "any structural anomaly of the muscles derived from the medial myotome; includes the intrinsic back muscles" [PMID:1591996] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0004249 name: abnormal crista ampullaris morphology def: "any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass" [MGI:anna] synonym: "abnormal cristae morphology" EXACT [] xref: MA:0002771 is_a: MP:0008488 ! abnormal semicircular canal ampulla morphology [Term] id: MP:0004250 name: tau protein deposits def: "formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders" [MGI:csmith] synonym: "tau protein tangles" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0004251 name: failure of heart looping def: "failure of the primitive heart tube to loop asymmetrically during early development" [GO:0001947] synonym: "failure of cardiac looping" EXACT [] synonym: "failure of looping morphogenesis" RELATED [] is_a: MP:0000269 ! abnormal heart looping [Term] id: MP:0004252 name: abnormal direction of heart looping def: "deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes" [MGI:csmith] synonym: "abnormal direction of cardiac looping" EXACT [] synonym: "abnormal direction of looping morphogenesis" RELATED [] is_a: MP:0000269 ! abnormal heart looping [Term] id: MP:0004253 name: bifid atrial appendage def: "a cardiac anomaly whereby the left or right atrial appendage is cleaved, forming two separate pouches connected by a thin strand of muscular tissue" [MGI:anna] is_a: MP:0010489 ! abnormal heart atrium auricular region morphology [Term] id: MP:0004254 name: cerebral amyloid angiopathy def: "a pathological condition where there is a deposition of amyloid in the walls of the small cerebral vessels which supply the brain; this results in an increased risk of infarcts and/or intracerebral hemorrhage, possibly resulting in dementia" [MGI:acv] is_a: MP:0000604 ! amyloidosis is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0004255 name: abnormal spongiotrophoblast layer morphology def: "any structural anomaly of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors" [ISBN-10:0521851653] is_a: MP:0005031 ! abnormal trophoblast layer morphology is_a: MP:0008957 ! abnormal placenta junctional zone morphology [Term] id: MP:0004256 name: abnormal maternal decidual layer morphology def: "any structural anomaly of the maternal uterine-derived portion of the placenta" [PMID:11433360] is_a: MP:0001120 ! abnormal uterus morphology is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0004257 name: abnormal placenta weight def: "any change in the weight of the organ of metabolic interchange between fetus and mother" [MGI:csmith] is_a: MP:0004258 ! abnormal placenta size [Term] id: MP:0004258 name: abnormal placenta size def: "anomaly in the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0004259 name: small placenta def: "reduced size of the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith] synonym: "reduced size of placenta" EXACT [] is_a: MP:0004258 ! abnormal placenta size [Term] id: MP:0004260 name: enlarged placenta def: "increased size of the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith] synonym: "increased size of placenta" EXACT [] synonym: "large placenta" RELATED [] is_a: MP:0004258 ! abnormal placenta size [Term] id: MP:0004261 name: abnormal embryonic neuroepithelium morphology def: "any structural anomaly of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343, MGI:monikat] synonym: "abnormal embryonic neuroectoderm morphology" EXACT [] synonym: "abnormal neural tube neuroepithelium morphology" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0004262 name: abnormal physical strength def: "altered ability of an organism to exert force on physical objects or of the body to support its load" [MGI:csmith] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0004263 name: abnormal limb posture def: "atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0004264 name: abnormal extraembryonic tissue physiology def: "any functional anomaly of the membranes involved with embryonic protection and nutrition" [MGI:csmith] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0004265 name: abnormal placental transport def: "anomaly in the conveyance of metabolic products and nutrients across the placenta" [MGI:csmith] is_a: MP:0010038 ! abnormal placenta physiology [Term] id: MP:0004266 name: pale placenta def: "placenta lacking normal reddish coloration, often refers to bloodless condition" [MGI:csmith] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0004267 name: abnormal optic tract morphology def: "any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region" [ISBN:0-683-40008-8] synonym: "abnormal tractus opticus morphology" EXACT [] is_a: MP:0000778 ! abnormal nervous system tract morphology is_a: MP:0008026 ! abnormal brain white matter morphology [Term] id: MP:0004268 name: abnormal optic stalk morphology def: "any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain" [ISBN:0-914294-08-3] is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0004269 name: abnormal optic cup morphology def: "any structural anomaly of double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb] is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0004270 name: analgesia def: "inability to sense pain" [MGI:csmith] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0004272 name: abnormal basement membrane morphology def: "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8, MESH:A10.272.220] comment: Note: Basal lamina and lamina reticularis (or of two basal laminae) compose the basement membrane. Thus, in strict sense, the term basement membrane is different from and should not be confused with basal lamina. synonym: "abnormal basement lamina morphology" EXACT [] synonym: "basement membrane dysplasia" EXACT [] is_a: MP:0002168 ! other aberrant phenotype [Term] id: MP:0004273 name: abnormal basal lamina morphology def: "any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue" [ISBN:0-683-40008-8] comment: Note: Basal lamina and lamina reticularis (or of two basal laminae) compose the basement membrane. Thus, in strict sense, the term basement membrane is different from and should not be confused with basal lamina. is_a: MP:0004272 ! abnormal basement membrane morphology [Term] id: MP:0004274 name: abnormal embryonic/fetal subventricular zone morphology def: "any structural anomaly of the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles" [MGI:csmith, PMID:12637172] synonym: "abnormal embryonic subventricular zone" EXACT [] synonym: "abnormal subependymal layer" BROAD [] synonym: "abnormal subependymal plate" BROAD [] synonym: "abnormal subependymal zone" BROAD [] synonym: "abnormal subventricular zone" BROAD [] synonym: "abnormal SVZ" BROAD [] is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0004275 name: abnormal postnatal subventricular zone morphology def: "any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells" [MGI:csmith, PMID:12637172] synonym: "abnormal adult SVZ" EXACT [] synonym: "abnormal SEZ morphology" EXACT [] synonym: "abnormal subependymal layer" BROAD [] synonym: "abnormal subependymal plate" BROAD [] synonym: "abnormal subependymal zone" BROAD [] synonym: "abnormal subventricular zone" BROAD [] synonym: "abnormal SVZ" BROAD [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0004276 name: abnormal medial ganglionic eminence morphology def: "any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the neocortex; however, hippocampal neurons, thalamus, septum and olfactory bulb neurons are also partly derived from the MGE" [MGI:csmith, PMID:12637172] synonym: "abnormal MGE" EXACT [] is_a: MP:0004274 ! abnormal embryonic/fetal subventricular zone morphology [Term] id: MP:0004277 name: abnormal lateral ganglionic eminence morphology def: "any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE" [MGI:csmith, PMID:12637172] synonym: "abnormal LGE" EXACT [] is_a: MP:0004274 ! abnormal embryonic/fetal subventricular zone morphology [Term] id: MP:0004278 name: abnormal caudal ganglionic eminence morphology def: "any structural anomaly of the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle" [MGI:csmith, PMID:12637172] synonym: "abnormal CGE" EXACT [] is_a: MP:0004274 ! abnormal embryonic/fetal subventricular zone morphology [Term] id: MP:0004279 name: abnormal rostral migratory stream morphology def: "any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs" [MGI:smb] is_a: MP:0002739 ! abnormal olfactory bulb development [Term] id: MP:0004280 name: abnormal oculomotor nucleus morphology def: "any structural anomaly of the group of motor neurons in the floor of the midbrain that gives rise to motor fibers of the oculomotor nerve" [MGI:monikat] is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0004281 name: abnormal hypoglossal nucleus morphology def: "any structural anomaly of the group of motor neurons throughout most of the length of the medulla oblongata that give rise to the motor fibers of the hypoglossal nerve" [MGI:monikat] is_a: MP:0000846 ! abnormal medulla oblongata morphology [Term] id: MP:0004282 name: retrognathia def: "abnormal posterior-shifted positioning of the jaws, particularly the mandible, relative to the facial skeleton and soft tissues" [MGI:anna] synonym: "retrognathism" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0004283 name: absent corneal endothelium def: "absence of the single layer of large flattened cells that cover the surface of the cornea" [MGI:anna] is_a: MP:0005301 ! abnormal corneal endothelium morphology [Term] id: MP:0004284 name: abnormal Descemet membrane def: "any structural anomaly in the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea, considered to be a highly developed basement membrane" [MESH:A09.371.060.217.271, MGI:anna] subset: Sanger_Terms synonym: "abnormal Descemet's membrane" EXACT [] synonym: "abnormal Duddell membrane" EXACT [] synonym: "abnormal entocornea" EXACT [] synonym: "abnormal hyaloid membrane" EXACT [] synonym: "abnormal lamina elastica posterior" EXACT [] synonym: "abnormal lamina limitans posterior corneae" EXACT [] synonym: "abnormal membrana hyaloidea" EXACT [] synonym: "abnormal membrana vitrea" EXACT [] synonym: "abnormal posterior elastic layer" EXACT [] synonym: "abnormal posterior limiting lamina of cornea" EXACT [] synonym: "abnormal posterior limiting layer of cornea" EXACT [] synonym: "abnormal tunica vitrea" EXACT [] synonym: "abnormal vitreous membrane" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0004285 name: absent Descemet membrane def: "absence of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea" [MGI:anna] is_a: MP:0004284 ! abnormal Descemet membrane [Term] id: MP:0004286 name: abnormal internal auditory canal morphology def: "any structural anomaly in the canal beginning at the opening of the internal acoustic meatus in the posterior cranial fossa, passing laterally through the petrous portion of the temporal bone to end at the fundus, where a thin plate of bone separates it from the vestibule; it gives passage to the facial and vestibulocochlear nerves together with the labyrinthine artery and veins" [MGI:anna] synonym: "abnormal internal acoustic meatus morphology" EXACT [] synonym: "abnormal internal auditory meatus morphology" EXACT [] synonym: "abnormal meatus auditorius internus morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0004287 name: abnormal spiral limbus morphology def: "any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea" [MGI:anna] synonym: "abnormal limbus laminae spiralis osseae" EXACT [] synonym: "abnormal limbus spiralis" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0004288 name: abnormal spiral ligament morphology def: "any structural anomaly in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches" [MGI:anna] synonym: "abnormal crista spiralis" EXACT [] synonym: "abnormal ligamentum spirale cochleae" EXACT [] synonym: "abnormal ligamentum spirale ductus cochlearis" EXACT [] synonym: "abnormal spiral crest" EXACT [] synonym: "abnormal spiral ligament of cochlea" EXACT [] synonym: "abnormal spiral ligament of cochlear duct" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology is_a: MP:0005504 ! abnormal ligament morphology [Term] id: MP:0004289 name: abnormal bony labyrinth def: "any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended" [MGI:anna] synonym: "abnormal labyrinthus osseus" EXACT [] synonym: "abnormal osseous labyrinth" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0004290 name: abnormal stapes footplate morphology def: "any structural anomaly in the flat portion of the stapes that fits in the oval window" [MGI:anna] synonym: "abnormal base of stapes morphology" EXACT [] synonym: "abnormal basis stapedis morphology" EXACT [] is_a: MP:0005107 ! abnormal stapes morphology [Term] id: MP:0004292 name: abnormal spiral ligament fibrocyte morphology def: "any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament" [MGI:anna] is_a: MP:0004288 ! abnormal spiral ligament morphology [Term] id: MP:0004293 name: abnormal type I spiral ligament fibrocytes def: "any structural anomaly of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis" [MGI:anna] is_a: MP:0004292 ! abnormal spiral ligament fibrocyte morphology [Term] id: MP:0004294 name: abnormal type II spiral ligament fibrocytes def: "any structural anomaly of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence" [MGI:anna] is_a: MP:0004292 ! abnormal spiral ligament fibrocyte morphology [Term] id: MP:0004295 name: abnormal type III spiral ligament fibrocytes def: "any structural anomaly of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule" [MGI:anna] is_a: MP:0004292 ! abnormal spiral ligament fibrocyte morphology [Term] id: MP:0004296 name: abnormal type IV spiral ligament fibrocytes def: "any structural anomaly of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest" [MGI:anna] is_a: MP:0004292 ! abnormal spiral ligament fibrocyte morphology [Term] id: MP:0004297 name: abnormal proprioceptive neuron morphology def: "any structural anomaly of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord" [MGI:hdene] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0004298 name: vestibular ganglion degeneration def: "loss of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus" [MGI:anna] synonym: "degeneration of ganglion vestibulare" EXACT [] synonym: "degeneration of Scarpa ganglion" EXACT [] is_a: MP:0002856 ! abnormal vestibular ganglion morphology [Term] id: MP:0004299 name: absent vestibular ganglion def: "absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus" [MGI:anna] synonym: "absent ganglion vestibulare" EXACT [] synonym: "absent Scarpa ganglion" EXACT [] is_a: MP:0002856 ! abnormal vestibular ganglion morphology [Term] id: MP:0004300 name: abnormal organ of Corti supporting cell morphology def: "any structural anomaly in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti" [MGI:anna] synonym: "abnormal supporting cells of the organ of Corti" EXACT [] is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0004301 name: absent organ of Corti supporting cells def: "absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna] synonym: "absent supporting cells of the organ of Corti" EXACT [] is_a: MP:0004497 ! decreased organ of Corti supporting cell number [Term] id: MP:0004302 name: abnormal Deiters cell morphology def: "any structural anomaly in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna] synonym: "abnormal phalangeal cell morphology" EXACT [] is_a: MP:0004300 ! abnormal organ of Corti supporting cell morphology [Term] id: MP:0004303 name: abnormal Hensen cell morphology def: "any structural anomaly in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters' cells" [MGI:anna] is_a: MP:0004300 ! abnormal organ of Corti supporting cell morphology [Term] id: MP:0004304 name: absent spiral limbus def: "absence of the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea" [MGI:anna] synonym: "absent abnormal limbus spiralis" EXACT [] synonym: "absent limbus laminae spiralis osseae" EXACT [] is_a: MP:0004287 ! abnormal spiral limbus morphology [Term] id: MP:0004305 name: abnormal Rosenthal canal morphology def: "any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina" [MGI:anna] synonym: "abnormal canalis spiralis cochleae" EXACT [] synonym: "abnormal cochlear canal" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology is_a: MP:0002729 ! abnormal inner ear canal morphology [Term] id: MP:0004306 name: small Rosenthal canal def: "reduced size of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea" [MGI:anna] synonym: "small canalis spiralis cochleae" EXACT [] synonym: "small cochlear canal" EXACT [] is_a: MP:0004305 ! abnormal Rosenthal canal morphology [Term] id: MP:0004307 name: absent Rosenthal canal def: "absence of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea" [MGI:anna] synonym: "absent canalis spiralis cochleae" EXACT [] synonym: "absent cochlear canal" RELATED [] is_a: MP:0004305 ! abnormal Rosenthal canal morphology [Term] id: MP:0004308 name: abnormal basilar membrane morphology def: "any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti" [MGI:anna] synonym: "abnormal basilar lamina morphology" EXACT [] synonym: "abnormal basilar membrane of cochlear duct morphology" EXACT [] synonym: "abnormal lamina basilaris cochleae morphology" EXACT [] synonym: "abnormal lamina basilaris ductus cochlearis morphology" EXACT [] synonym: "abnormal membrana basilaris morphology" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0004309 name: absent otic vesicle def: "absence of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [MGI:anna] synonym: "absent acoustic vesicle" EXACT [] synonym: "absent auditory vesicle" EXACT [] synonym: "absent otocyst" EXACT [] is_a: MP:0009806 ! abnormal otic vesicle morphology [Term] id: MP:0004310 name: small otic vesicle def: "reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [MGI:anna] synonym: "small acoustic vesicle" EXACT [] synonym: "small auditory vesicle" EXACT [] synonym: "small otocyst" EXACT [] is_a: MP:0009806 ! abnormal otic vesicle morphology [Term] id: MP:0004311 name: otic vesicle hypoplasia def: "underdevelopment of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear, usually due to a reduction in cell number" [MGI:anna] synonym: "acoustic vesicle hypoplasia" EXACT [] synonym: "auditory vesicle hypoplasia" EXACT [] synonym: "hypoplastic otic vesicle" EXACT [] synonym: "hypoplastic otocyst" EXACT [] synonym: "otocyst hypoplasia" EXACT [] is_a: MP:0004310 ! small otic vesicle [Term] id: MP:0004312 name: absent pillar cells def: "absence of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti" [MGI:anna] is_a: MP:0003825 ! abnormal pillar cell morphology [Term] id: MP:0004313 name: absent vestibulocochlear ganglion def: "absence of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia" [MGI:anna] is_a: MP:0003703 ! abnormal vestibulocochlear ganglion morphology [Term] id: MP:0004314 name: absent vestibule def: "absence of the cavity between the semicircular canals and the cochlea of the inner ear" [MGI:anna] is_a: MP:0000034 ! abnormal vestibule morphology [Term] id: MP:0004315 name: absent vestibular saccule def: "absence of the smaller of the two sacs in the vestibule" [MGI:anna] synonym: "absent saccule" EXACT [] is_a: MP:0006089 ! abnormal vestibular saccule morphology [Term] id: MP:0004316 name: enlarged vestibular saccule def: "enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear" [MGI:anna] synonym: "enlarged saccule" EXACT [] is_a: MP:0006089 ! abnormal vestibular saccule morphology [Term] id: MP:0004317 name: small vestibular saccule def: "reduced size of the cavity between the semicircular canals and the cochlea of the inner ear" [MGI:anna] synonym: "small saccule" EXACT [] is_a: MP:0006089 ! abnormal vestibular saccule morphology [Term] id: MP:0004318 name: absent incus def: "absence of the middle of the three auditory ossicles" [MGI:anna] is_a: MP:0005106 ! abnormal incus morphology [Term] id: MP:0004319 name: absent malleus def: "absence of the largest of the three auditory ossicles, which resembles a club or hammer" [MGI:anna] is_a: MP:0000029 ! abnormal malleus morphology [Term] id: MP:0004320 name: split sternum def: "the appearance of an abnormal division in the long flat bone of the chest which articulates with clavicle and first seven rib pairs" [MGI:csmith] synonym: "bifid sternum" EXACT [] synonym: "bifurcated sternum" EXACT [] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0004321 name: short sternum def: "reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs" [MGI:csmith] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0004322 name: abnormal sternebra morphology def: "any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum" [MGI:csmith] synonym: "abnormal sternebrae morphology" EXACT [] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0004323 name: sternum hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the sternum" [MGI:csmith] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0004324 name: vestibular hair cell degeneration def: "degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna] is_a: MP:0002623 ! abnormal vestibular hair cell morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0004325 name: absent vestibular hair cells def: "absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna] is_a: MP:0004328 ! decreased vestibular hair cell number [Term] id: MP:0004326 name: abnormal vestibular hair cell number def: "abnormal number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear" [MGI:anna] is_a: MP:0002623 ! abnormal vestibular hair cell morphology [Term] id: MP:0004327 name: increased vestibular hair cell number def: "increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna] is_a: MP:0004326 ! abnormal vestibular hair cell number is_a: MP:0006006 ! increased sensory neuron number [Term] id: MP:0004328 name: decreased vestibular hair cell number def: "decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna] synonym: "reduced vestibular hair cell number" EXACT [] is_a: MP:0000966 ! decreased sensory neuron number is_a: MP:0004326 ! abnormal vestibular hair cell number [Term] id: MP:0004329 name: vestibular saccular degeneration def: "degeneration or loss of the smaller of the two sacs in the vestibule" [MGI:anna] synonym: "saccular degeneration" RELATED [] is_a: MP:0006089 ! abnormal vestibular saccule morphology [Term] id: MP:0004330 name: abnormal vestibular saccular macula morphology def: "any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies" [MGI:anna] synonym: "abnormal macula sacculi" EXACT [] synonym: "abnormal saccular macula morphology" EXACT [] synonym: "abnormal saccular spot" RELATED [] is_a: MP:0006089 ! abnormal vestibular saccule morphology [Term] id: MP:0004331 name: vestibular saccular macula degeneration def: "degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule" [MGI:anna] synonym: "saccular macula degeneration" EXACT [] is_a: MP:0004330 ! abnormal vestibular saccular macula morphology [Term] id: MP:0004332 name: utricular degeneration def: "degeneration or loss of the larger of the two sacs in the vestibule" [MGI:anna] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0004333 name: abnormal utricular macula morphology def: "any structural anomaly of the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences" [MGI:anna] synonym: "abnormal macula utriculi morphology" EXACT [] synonym: "abnormal utricular spot morphology" EXACT [] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0004334 name: utricular macular degeneration def: "degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle" [MGI:anna] is_a: MP:0004333 ! abnormal utricular macula morphology [Term] id: MP:0004335 name: enlarged utricle def: "increased size of the larger of the two sacs in the vestibule" [MGI:anna] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0004336 name: small utricle def: "reduced size of the larger of the two sacs in the vestibule" [MGI:anna] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0004337 name: clavicle hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8] synonym: "hypoplastic clavicles" EXACT [] is_a: MP:0004338 ! small clavicle [Term] id: MP:0004338 name: small clavicle def: "reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8] is_a: MP:0005298 ! abnormal clavicle morphology [Term] id: MP:0004339 name: absent clavicle def: "missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8] is_a: MP:0005298 ! abnormal clavicle morphology [Term] id: MP:0004340 name: short scapula def: "reduced length of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith] is_a: MP:0004343 ! small scapula [Term] id: MP:0004341 name: absent scapula def: "missing either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith] is_a: MP:0000149 ! abnormal scapula morphology [Term] id: MP:0004342 name: scapular bone foramen def: "presence of a hole in either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith] synonym: "hole in scapula" EXACT [] synonym: "scapula foramen" EXACT [] synonym: "scapula hole" EXACT [] synonym: "scapular hole" EXACT [] is_a: MP:0000149 ! abnormal scapula morphology [Term] id: MP:0004343 name: small scapula def: "reduced size of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith] is_a: MP:0000149 ! abnormal scapula morphology [Term] id: MP:0004344 name: scapular bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith] is_a: MP:0004343 ! small scapula [Term] id: MP:0004345 name: abnormal acromion morphology def: "any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder" [ISBN:0-683-40008-8] synonym: "abnormal acromial process morphology" EXACT [] is_a: MP:0000149 ! abnormal scapula morphology [Term] id: MP:0004346 name: absent acromion def: "missing the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder" [ISBN:0-683-40008-8] synonym: "absence of acromion" EXACT [] synonym: "absent acromial process" EXACT [] is_a: MP:0004345 ! abnormal acromion morphology [Term] id: MP:0004347 name: abnormal scapular spine morphology def: "any structural anomaly of the triangular ridge on the dorsal aspect of the scapula which separates the supra- from the infraspinatous fossa and where the trapezius and deltoid muscles are attached" [ISBN:0-683-40008-8] synonym: "abnormal spine of scapula" EXACT [] is_a: MP:0000149 ! abnormal scapula morphology [Term] id: MP:0004348 name: long femur def: "increased length of the long bone of the thigh" [ISBN:0-683-40008-8] is_a: MP:0000559 ! abnormal femur morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0004349 name: absent femur def: "missing the long bone of the thigh" [ISBN:0-683-40008-8] is_a: MP:0000559 ! abnormal femur morphology [Term] id: MP:0004350 name: long humerus def: "increased length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8] is_a: MP:0004695 ! increased length of long bones is_a: MP:0005296 ! abnormal humerus morphology [Term] id: MP:0004351 name: short humerus def: "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8] is_a: MP:0004686 ! decreased length of long bones is_a: MP:0005296 ! abnormal humerus morphology [Term] id: MP:0004352 name: absent humerus def: "missing one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8] is_a: MP:0005296 ! abnormal humerus morphology [Term] id: MP:0004353 name: abnormal deltoid tuberosity morphology def: "any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "abnormal deltoid crest" EXACT [] synonym: "abnormal deltoid eminence" EXACT [] synonym: "abnormal deltoid impression" EXACT [] synonym: "abnormal deltoid process" EXACT [] is_a: MP:0005296 ! abnormal humerus morphology [Term] id: MP:0004354 name: absent deltoid tuberosity def: "missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches" [ISBN:0-683-40008-8] synonym: "absent deltoid crest" EXACT [] synonym: "absent deltoid eminence" EXACT [] synonym: "absent deltoid impression" EXACT [] synonym: "absent deltoid process" EXACT [] is_a: MP:0004353 ! abnormal deltoid tuberosity morphology [Term] id: MP:0004355 name: short radius def: "reduced length of the short bone of the lateral forearm" [ISBN:0-683-40008-8] is_a: MP:0000552 ! abnormal radius morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0004356 name: radius hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the short bone of the lateral forearm" [ISBN:0-683-40008-8] is_a: MP:0000552 ! abnormal radius morphology [Term] id: MP:0004357 name: long tibia def: "increased length of the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0000558 ! abnormal tibia morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0004358 name: bowed tibia def: "increased curvature of the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "bent tibia" EXACT [] is_a: MP:0000558 ! abnormal tibia morphology [Term] id: MP:0004359 name: short ulna def: "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8] is_a: MP:0004686 ! decreased length of long bones is_a: MP:0005108 ! abnormal ulna morphology [Term] id: MP:0004360 name: absent ulna def: "missing the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8] is_a: MP:0005108 ! abnormal ulna morphology [Term] id: MP:0004361 name: bowed ulna def: "increased curvature of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8] synonym: "bent ulna" EXACT [] is_a: MP:0005108 ! abnormal ulna morphology [Term] id: MP:0004362 name: cochlear hair cell degeneration def: "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8, MGI:csmith] synonym: "auditory hair cell degeneration" RELATED [] is_a: MP:0002622 ! abnormal cochlear hair cell morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0004363 name: stria vascularis degeneration def: "degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna] is_a: MP:0000032 ! cochlear degeneration is_a: MP:0000048 ! abnormal stria vascularis morphology [Term] id: MP:0004364 name: thin stria vascularis def: "reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna] is_a: MP:0000048 ! abnormal stria vascularis morphology [Term] id: MP:0004365 name: abnormal strial basal cell morphology def: "any structural anomaly in the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament" [MGI:anna] synonym: "abnormal strial basal cells" BROAD [] is_a: MP:0000048 ! abnormal stria vascularis morphology [Term] id: MP:0004366 name: abnormal strial marginal cell morphology def: "any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria" [MGI:anna] synonym: "abnormal strial marginal cells" RELATED [] is_a: MP:0000048 ! abnormal stria vascularis morphology [Term] id: MP:0004367 name: abnormal strial intermediate cell morphology def: "any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV)" [MGI:anna] synonym: "abnormal cochlear melanocytes" BROAD [] synonym: "abnormal otic melanocytes" BROAD [ISBN-13:978-1-4051-2034-0] synonym: "abnormal stria vascularis intermediate cells" BROAD [] synonym: "abnormal stria vascularis melanocytes" RELATED [] synonym: "abnormal strial intermediate cells" BROAD [] synonym: "abnormal strial melanocytes" BROAD [] is_a: MP:0000048 ! abnormal stria vascularis morphology is_a: MP:0002877 ! abnormal melanocyte morphology is_a: MP:0009390 ! abnormal otic pigmentation [Term] id: MP:0004368 name: abnormal stria vascularis vasculature morphology def: "any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear" [MGI:anna] synonym: "abnormal stria vascularis blood vessels" EXACT [] synonym: "abnormal strial vascularization" EXACT [] is_a: MP:0000048 ! abnormal stria vascularis morphology is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0004369 name: absent utricle def: "absence of the larger of the two sacs in the vestibule" [MGI:csmith] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0004370 name: long ulna def: "increased length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8] is_a: MP:0004695 ! increased length of long bones is_a: MP:0005108 ! abnormal ulna morphology [Term] id: MP:0004371 name: bowed femur def: "increased curvature of the long bone of the thigh" [ISBN:0-683-40008-8] synonym: "bent femur" EXACT [] is_a: MP:0000559 ! abnormal femur morphology [Term] id: MP:0004372 name: bowed fibula def: "increased curvature of the lateral and smaller bone of the lower limb" [ISBN:0-683-40008-8] synonym: "bent fibula" EXACT [] is_a: MP:0002187 ! abnormal fibula morphology [Term] id: MP:0004373 name: bowed humerus def: "increased curvature of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8] synonym: "bent humerus" EXACT [] is_a: MP:0005296 ! abnormal humerus morphology [Term] id: MP:0004374 name: bowed radius def: "increased curvature of the short bone of the lateral forearm" [ISBN:0-683-40008-8] synonym: "bent radius" EXACT [] is_a: MP:0000552 ! abnormal radius morphology [Term] id: MP:0004375 name: enlarged frontal bone def: "increased size of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8] is_a: MP:0000107 ! abnormal frontal bone morphology [Term] id: MP:0004376 name: absent frontal bone def: "absence of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8] is_a: MP:0000107 ! abnormal frontal bone morphology [Term] id: MP:0004377 name: small frontal bone def: "reduced size of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8] is_a: MP:0000107 ! abnormal frontal bone morphology [Term] id: MP:0004378 name: frontal bone foramen def: "presence of a hole in the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8] synonym: "frontal bone hole" EXACT [] synonym: "hole in frontal bone" EXACT [] is_a: MP:0000107 ! abnormal frontal bone morphology [Term] id: MP:0004379 name: wide frontal bone def: "increased width of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8] is_a: MP:0000107 ! abnormal frontal bone morphology [Term] id: MP:0004380 name: short frontal bone def: "reduced length of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8] is_a: MP:0000107 ! abnormal frontal bone morphology [Term] id: MP:0004381 name: abnormal hair follicle melanocyte morphology def: "any structural anomaly of the cells that produce pigment in the hair follicles" [MGI:llw2] synonym: "abnormal hair follicle melanocytes" EXACT [] is_a: MP:0002075 ! abnormal coat/hair pigmentation is_a: MP:0002877 ! abnormal melanocyte morphology [Term] id: MP:0004382 name: abnormal hair follicle melanogenesis def: "failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation is_a: MP:0005077 ! abnormal melanogenesis [Term] id: MP:0004383 name: absent interparietal bone def: "absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith] is_a: MP:0000077 ! abnormal interparietal bone morphology [Term] id: MP:0004384 name: small interparietal bone def: "reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith] is_a: MP:0000077 ! abnormal interparietal bone morphology [Term] id: MP:0004385 name: interparietal bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith] synonym: "hypoplastic interparietal bone" EXACT [] is_a: MP:0004384 ! small interparietal bone [Term] id: MP:0004386 name: enlarged interparietal bone def: "increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith] is_a: MP:0000077 ! abnormal interparietal bone morphology [Term] id: MP:0004387 name: abnormal prechordal plate morphology def: "any structural anomaly of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue" [ISBN:0838580343] synonym: "abnormal prochordal plate morphology" EXACT [] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0004388 name: absent prechordal plate def: "absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue" [ISBN:0838580343] is_a: MP:0004387 ! abnormal prechordal plate morphology [Term] id: MP:0004389 name: abnormal respiratory bronchiole morphology def: "any structural anomaly of the smallest bronchioles, which connect the terminal bronchioles to alveolar ducts and have alveoli rising from their walls" [ISBN:0-683-40008-8, MGI:brs] is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0004390 name: abnormal bronchoalveolar duct junction morphology def: "any structural anomaly of the branch point connecting the respiratory bronchioles to the alveolar ducts" [ISBN:0-683-40008-8, MGI:brs] is_a: MP:0002271 ! abnormal pulmonary alveolar duct morphology is_a: MP:0004389 ! abnormal respiratory bronchiole morphology [Term] id: MP:0004391 name: abnormal respiratory conducting tube morphology alt_id: Fyler:4232 def: "any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal conducting airways" EXACT [] synonym: "abnormal respiratory conducting zone" EXACT [] synonym: "abnormal respiratory passage" EXACT [] synonym: "airway malformation" BROAD [] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0004392 name: abnormal CD8-positive T cell physiology def: "any functional anomaly of the subset of T lymphocytes that express the CD8 marker on the cell surface" [MGI:csmith] synonym: "abnormal CD8+ T cell physiology" EXACT [] synonym: "abnormal single positive T cell physiology" BROAD [] is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0004393 name: abnormal cochlear inner hair cell morphology def: "any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane" [MGI:anna] synonym: "abnormal auditory inner hair cell morphology" RELATED [] synonym: "abnormal cochlear IHCs" EXACT [] synonym: "abnormal cochlear inner hair cells" EXACT [] is_a: MP:0002622 ! abnormal cochlear hair cell morphology [Term] id: MP:0004394 name: abnormal cochlear inner hair cell number def: "abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve" [MGI:anna] synonym: "abnormal auditory inner hair cell number" EXACT [] is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology [Term] id: MP:0004395 name: increased cochlear inner hair cell number def: "increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna] synonym: "extra IHCs" EXACT [] synonym: "extra row(s) of IHCs" EXACT [] synonym: "increased auditory IHCs" EXACT [] synonym: "increased auditory inner hair cell number" EXACT [] synonym: "supernumerary IHCs" EXACT [] is_a: MP:0004394 ! abnormal cochlear inner hair cell number is_a: MP:0004407 ! increased cochlear hair cell number [Term] id: MP:0004396 name: decreased cochlear inner hair cell number def: "decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna] synonym: "decreased auditory IHCs" EXACT [] synonym: "decreased auditory inner hair cell number" EXACT [] synonym: "decreased cochlear IHCs" RELATED [] synonym: "reduced cochlear inner hair cell number" EXACT [] is_a: MP:0004394 ! abnormal cochlear inner hair cell number is_a: MP:0004408 ! decreased cochlear hair cell number [Term] id: MP:0004397 name: absent cochlear inner hair cells def: "absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna] synonym: "absent auditory IHCs" EXACT [] synonym: "absent cochlear IHCs" EXACT [] synonym: "absent IHCs" BROAD [] is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology is_a: MP:0004396 ! decreased cochlear inner hair cell number is_a: MP:0004405 ! absent cochlear hair cells [Term] id: MP:0004398 name: cochlear inner hair cell degeneration def: "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna] synonym: "auditory inner hair cell degeneration" EXACT [] is_a: MP:0004362 ! cochlear hair cell degeneration is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology [Term] id: MP:0004399 name: abnormal cochlear outer hair cell morphology def: "any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane" [MGI:anna] synonym: "abnormal auditory outer hair cell morphology" EXACT [] synonym: "abnormal cochlear OHCs" EXACT [] synonym: "abnormal cochlear outer hair cells" EXACT [] is_a: MP:0002622 ! abnormal cochlear hair cell morphology [Term] id: MP:0004400 name: abnormal cochlear outer hair cell number def: "abnormal number of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna] synonym: "abnormal auditory outer hair cell number" EXACT [] is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology [Term] id: MP:0004401 name: increased cochlear outer hair cell number def: "increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna] synonym: "extra OHCs" EXACT [] synonym: "extra row(s) of OHCs" EXACT [] synonym: "increased auditory OHCs" EXACT [] synonym: "increased auditory outer hair cell number" EXACT [] synonym: "supernumerary OHCs" EXACT [] is_a: MP:0004400 ! abnormal cochlear outer hair cell number is_a: MP:0004407 ! increased cochlear hair cell number [Term] id: MP:0004402 name: decreased cochlear outer hair cell number def: "decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna] synonym: "decreased auditory OHCs" EXACT [] synonym: "decreased auditory outer hair cell number" EXACT [] synonym: "decreased cochlear OHCs" RELATED [] synonym: "reduced cochlear outer hair cell number" EXACT [] is_a: MP:0004400 ! abnormal cochlear outer hair cell number is_a: MP:0004408 ! decreased cochlear hair cell number [Term] id: MP:0004403 name: absent cochlear outer hair cells def: "absence of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna] synonym: "absent auditory OHCs" EXACT [] synonym: "absent cochlear OHCs" EXACT [] is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology is_a: MP:0004402 ! decreased cochlear outer hair cell number is_a: MP:0004405 ! absent cochlear hair cells [Term] id: MP:0004404 name: cochlear outer hair cell degeneration def: "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna] synonym: "auditory outer hair cell degeneration" EXACT [] is_a: MP:0004362 ! cochlear hair cell degeneration is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology [Term] id: MP:0004405 name: absent cochlear hair cells def: "absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve" [MGI:anna] synonym: "absent auditory hair cells" RELATED [] is_a: MP:0004408 ! decreased cochlear hair cell number [Term] id: MP:0004406 name: abnormal cochlear hair cell number def: "abnormal number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve" [MGI:anna] synonym: "abnormal auditory hair cell number" EXACT [] is_a: MP:0002622 ! abnormal cochlear hair cell morphology [Term] id: MP:0004407 name: increased cochlear hair cell number def: "increased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve" [MGI:anna] synonym: "increased auditory hair cell number" RELATED [] is_a: MP:0004406 ! abnormal cochlear hair cell number is_a: MP:0006006 ! increased sensory neuron number [Term] id: MP:0004408 name: decreased cochlear hair cell number def: "decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve" [MGI:anna] synonym: "decreased auditory hair cell number" RELATED [] synonym: "reduced cochlear hair cell number" EXACT [] is_a: MP:0000966 ! decreased sensory neuron number is_a: MP:0004406 ! abnormal cochlear hair cell number [Term] id: MP:0004409 name: abnormal crista ampullaris neuroepithelium morphology def: "any structural anomaly in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct" [MGI:anna] synonym: "abnormal ampullary crest neuroepithelium morphology" EXACT [] synonym: "abnormal neuroepithelium of ampullary crest" EXACT [] xref: MA:0002870 is_a: MP:0004249 ! abnormal crista ampullaris morphology [Term] id: MP:0004410 name: absent endocochlear potential def: "absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear" [MGI:anna] synonym: "absent endolymphatic potential" EXACT [] synonym: "loss of endocochlear potential" EXACT [] is_a: MP:0002630 ! abnormal endocochlear potential [Term] id: MP:0004411 name: decreased endocochlear potential def: "reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea" [MGI:anna] synonym: "decreased endolymphatic potential" EXACT [] synonym: "low endocochlear potential" EXACT [] synonym: "reduced endocochlear potential" EXACT [] synonym: "reduced endolymphatic potential" EXACT [] is_a: MP:0002630 ! abnormal endocochlear potential [Term] id: MP:0004412 name: abnormal cochlear microphonics def: "any anomaly in the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound; the cochlear microphonic (CM) is an electric response dominated by OHC receptor potentials from the basal turn of the cochlea and provides a measure of transducer function in OHCs; in an active ear, CM waveforms show post-stimulus ringing (i.e. a cochlear echo) whereas in a passive ear system, CM decays at the cessation of the tone burst" [MGI:anna] is_a: MP:0004434 ! abnormal cochlear outer hair cell physiology is_a: MP:0006332 ! abnormal cochlear potential [Term] id: MP:0004413 name: absent cochlear microphonics def: "absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound" [MGI:anna] synonym: "absent cochlear potential" EXACT [] is_a: MP:0004412 ! abnormal cochlear microphonics [Term] id: MP:0004414 name: decreased cochlear microphonics def: "reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound" [MGI:anna] synonym: "decreased cochlear potential" EXACT [] synonym: "reduced cochlear microphonics" EXACT [] synonym: "reduced cochlear potential" EXACT [] is_a: MP:0004412 ! abnormal cochlear microphonics [Term] id: MP:0004415 name: abnormal cochlear nerve compound action potential def: "anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation" [MGI:anna] synonym: "abnormal auditory nerve compound action potential" RELATED [] is_a: MP:0005402 ! abnormal action potential is_a: MP:0006335 ! abnormal hearing electrophysiology [Term] id: MP:0004416 name: absent cochlear nerve compound action potential def: "absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve" [MGI:anna] synonym: "absent auditory nerve compound action potential" RELATED [] is_a: MP:0004415 ! abnormal cochlear nerve compound action potential [Term] id: MP:0004417 name: decreased cochlear nerve compound action potential def: "reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve" [MGI:anna] synonym: "decreased auditory nerve compound action potential" RELATED [] synonym: "reduced auditory nerve compound action potential" RELATED [] synonym: "reduced cochlear nerve compound action potential" EXACT [] is_a: MP:0004415 ! abnormal cochlear nerve compound action potential [Term] id: MP:0004418 name: small parietal bone def: "reduced size of the curved bone forming part of the vault of the cranium" [MGI:csmith] is_a: MP:0000109 ! abnormal parietal bone morphology [Term] id: MP:0004419 name: absent parietal bone def: "absence of the curved bone forming part of the vault of the cranium" [MGI:csmith] is_a: MP:0000109 ! abnormal parietal bone morphology [Term] id: MP:0004420 name: parietal bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the curved bone forming part of the vault of the cranium" [MGI:csmith] is_a: MP:0004418 ! small parietal bone [Term] id: MP:0004421 name: enlarged parietal bone def: "increased size of the curved bone forming part of the vault of the cranium" [MGI:csmith] is_a: MP:0000109 ! abnormal parietal bone morphology [Term] id: MP:0004422 name: small temporal bone def: "reduced size of the large, irregular bone located at the base and side of the skull" [ISBN:0-683-40008-8] is_a: MP:0005272 ! abnormal temporal bone morphology [Term] id: MP:0004423 name: abnormal squamosal bone morphology def: "any structural anomaly of the thin, plate-like part of the temporal bone" [MGI:csmith] is_a: MP:0005272 ! abnormal temporal bone morphology [Term] id: MP:0004424 name: temporal bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the large, irregular bone located at the base and side of the skull" [ISBN:0-683-40008-8] is_a: MP:0004422 ! small temporal bone [Term] id: MP:0004425 name: abnormal otolith organ morphology def: "any structural anomaly in the utricle and saccule of the inner ear which possess otoliths and respond to linear acceleration and deceleration, including gravity" [MGI:anna] is_a: MP:0000034 ! abnormal vestibule morphology is_a: MP:0004427 ! abnormal vestibular labyrinth morphology [Term] id: MP:0004426 name: abnormal cochlear labyrinth morphology def: "any structural anomaly in the portion of the membranous labyrinth concerned with the sense of hearing (vs. the vestibular labyrinth, which is concerned with the sense of equilibration) and innervated by the cochlear nerve; it is located within the cochlea of the bony labyrinth, and consists of the cochlear duct, which contains the spiral organ" [MGI:anna] synonym: "abnormal labyrinthus cochlearis" EXACT [] synonym: "abnormal organ of hearing" EXACT [] is_a: MP:0000035 ! abnormal membranous labyrinth morphology [Term] id: MP:0004427 name: abnormal vestibular labyrinth morphology def: "any structural anomaly in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts" [MGI:anna] synonym: "abnormal labyrinthus vestibularis" BROAD [] synonym: "abnormal vestibular organ morphology" EXACT [] is_a: MP:0000035 ! abnormal membranous labyrinth morphology [Term] id: MP:0004428 name: abnormal type I vestibular cell def: "any structural anomaly in the flask-shaped sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear, which are normally enclosed in calyx endings of afferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae" [MGI:anna] is_a: MP:0002623 ! abnormal vestibular hair cell morphology [Term] id: MP:0004429 name: abnormal type II vestibular cells def: "any structural anomaly in the cylindrical sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear which are normally contacted by bouton endings of afferent and efferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae" [MGI:anna] is_a: MP:0002623 ! abnormal vestibular hair cell morphology [Term] id: MP:0004430 name: abnormal Claudius cell morphology def: "any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti)" [MGI:anna] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0004431 name: abnormal hair cell mechanoelectric transduction def: "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna] is_a: MP:0003879 ! abnormal hair cell physiology [Term] id: MP:0004432 name: abnormal cochlear hair cell physiology def: "any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve" [MGI:anna] is_a: MP:0003879 ! abnormal hair cell physiology [Term] id: MP:0004433 name: abnormal cochlear inner hair cell physiology def: "any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve" [MGI:anna] synonym: "abnormal cochlear IHC physiology" EXACT [] is_a: MP:0004432 ! abnormal cochlear hair cell physiology [Term] id: MP:0004434 name: abnormal cochlear outer hair cell physiology def: "any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna] synonym: "abnormal cochlear OHC physiology" EXACT [] is_a: MP:0004432 ! abnormal cochlear hair cell physiology [Term] id: MP:0004435 name: abnormal cochlear outer hair cell electromotility def: "anomalous motility of the cochlear OHCs in response to electrical stimulation; normally, the motile response (i.e. rapid change in length and stiffness of OHCs) is closely coupled to the changing transduction current and provides a region-specific amplification in the movement of the spiral organ that enhances transduction at the IHCs in that specific region of the cochlear spiral, increasing both sensitivity and specificity; electromotility is believed to arise through voltage-gated conformational changes in motor protein (prestin) or proteins located in the lateral wall of the OHC" [MGI:anna] synonym: "abnormal electromechanical transduction" EXACT [] synonym: "abnormal OHC electromotility" EXACT [] is_a: MP:0004434 ! abnormal cochlear outer hair cell physiology [Term] id: MP:0004436 name: absent cochlear outer hair cell electromotility def: "absence or loss of motility of the cochlear OHCs in response to electrical stimulation" [MGI:anna] synonym: "absent OHC electromotility" EXACT [] is_a: MP:0004435 ! abnormal cochlear outer hair cell electromotility [Term] id: MP:0004437 name: decreased cochlear outer hair cell electromotility def: "reduced motility of the cochlear OHCs in response to electrical stimulation" [MGI:anna] synonym: "reduced cochlear outer hair cell electromotility" EXACT [] synonym: "reduced OHC electromotility" EXACT [] is_a: MP:0004435 ! abnormal cochlear outer hair cell electromotility [Term] id: MP:0004438 name: abnormal vestibular hair cell physiology def: "anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear" [MGI:anna] is_a: MP:0003879 ! abnormal hair cell physiology [Term] id: MP:0004439 name: absent Meckel's cartilage def: "absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments" [ISBN:0-683-40008-8] is_a: MP:0005587 ! abnormal Meckel's cartilage morphology [Term] id: MP:0004440 name: absent occipital bone def: "absence of the bone at the lower, posterior part of the skull" [ISBN:0-683-40008-8] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0004441 name: small occipital bone def: "reduced size of the bone at the lower, posterior part of the skull" [ISBN:0-683-40008-8] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0004442 name: occipital bone foramen def: "presence of a hole in the bone at the lower, posterior part of the skull" [ISBN:0-683-40008-8] synonym: "hole in occipital bone" EXACT [] synonym: "occipital bone hole" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0004443 name: absent supraoccipital bone def: "absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young" [MGI:csmith] is_a: MP:0000078 ! abnormal supraoccipital bone morphology [Term] id: MP:0004444 name: small supraoccipital bone def: "reduced size of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young" [MGI:csmith] is_a: MP:0000078 ! abnormal supraoccipital bone morphology [Term] id: MP:0004445 name: small exoccipital bone def: "reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young" [ISBN:0-683-40008-8] is_a: MP:0000080 ! abnormal exoccipital bone morphology [Term] id: MP:0004446 name: split exoccipital bone def: "the appearance of an abnormal division in the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young" [ISBN:0-683-40008-8] synonym: "bifid exoccipital bone" EXACT [] is_a: MP:0000080 ! abnormal exoccipital bone morphology [Term] id: MP:0004447 name: small basioccipital bone def: "reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young" [ISBN:0-683-40008-8] is_a: MP:0000079 ! abnormal basioccipital bone morphology [Term] id: MP:0004448 name: abnormal presphenoid bone morphology def: "any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8] is_a: MP:0000104 ! abnormal sphenoid bone morphology [Term] id: MP:0004449 name: absent presphenoid bone def: "absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8] is_a: MP:0004448 ! abnormal presphenoid bone morphology [Term] id: MP:0004450 name: presphenoid bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8] synonym: "hypoplastic presphenoid bone" EXACT [] is_a: MP:0004448 ! abnormal presphenoid bone morphology [Term] id: MP:0004451 name: short presphenoid bone def: "reduced length of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8] is_a: MP:0004448 ! abnormal presphenoid bone morphology [Term] id: MP:0004452 name: abnormal pterygoid process morphology def: "any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes" [ISBN:0-683-40008-8] is_a: MP:0000104 ! abnormal sphenoid bone morphology [Term] id: MP:0004453 name: abnormal pterygoid bone morphology def: "any structural anomaly of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull" [ISBN:0-683-40008-8] is_a: MP:0004452 ! abnormal pterygoid process morphology [Term] id: MP:0004454 name: absent pterygoid process def: "absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes" [ISBN:0-683-40008-8] is_a: MP:0004452 ! abnormal pterygoid process morphology [Term] id: MP:0004455 name: pterygoid bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull" [ISBN:0-683-40008-8] synonym: "hypoplastic pterygoid bone" EXACT [] is_a: MP:0004456 ! small pterygoid bone [Term] id: MP:0004456 name: small pterygoid bone def: "reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull" [ISBN:0-683-40008-8] is_a: MP:0004453 ! abnormal pterygoid bone morphology [Term] id: MP:0004457 name: abnormal orbitosphenoid bone morphology def: "any structural anomaly of the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young" [ISBN:0-683-40008-8] synonym: "abnormal alae orbitales morphology" RELATED [] synonym: "abnormal lesser wing of the sphenoid bone" EXACT [] synonym: "abnormal small wing of the sphenoid bone" EXACT [] is_a: MP:0000104 ! abnormal sphenoid bone morphology is_a: MP:0010030 ! abnormal orbit morphology [Term] id: MP:0004458 name: absent alisphenoid bone def: "absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young" [ISBN:0-683-40008-8] is_a: MP:0003235 ! abnormal alisphenoid bone morphology [Term] id: MP:0004459 name: small alisphenoid bone def: "reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young" [ISBN:0-683-40008-8] is_a: MP:0003235 ! abnormal alisphenoid bone morphology [Term] id: MP:0004460 name: alisphenoid bone hypoplasia def: "underdevelopment or reduced size in either of the broad curved wing like expanses on each side of the sphenoid bone in adults, usually due to reduced cell number; this bone may exist independently in the young" [ISBN:0-683-40008-8] synonym: "decreased alisphenoid bone cellularity" RELATED [] synonym: "hypoplastic alisphenoid bone" EXACT [] is_a: MP:0004459 ! small alisphenoid bone [Term] id: MP:0004461 name: basisphenoid bone hypoplasia def: "underdevelopment or reduced size, usually due to reduced cell number, in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8] synonym: "decreased basisphenoid bone cellularity" RELATED [] synonym: "hypoplastic basisphenoid bone" EXACT [] is_a: MP:0004462 ! small basisphenoid bone [Term] id: MP:0004462 name: small basisphenoid bone def: "reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8] is_a: MP:0000106 ! abnormal basisphenoid bone morphology [Term] id: MP:0004463 name: basisphenoid bone foramen def: "the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8] synonym: "basisphenoid bone hole" EXACT [] synonym: "hole in basisphenoid bone" EXACT [] is_a: MP:0000106 ! abnormal basisphenoid bone morphology [Term] id: MP:0004464 name: absent strial basal cell tight junctions def: "absence of tight junctions from the basal cell layer of stria vascularis, resulting in destruction of the paracellular barrier between basal cells; loss of basal cell tight junctions renders the intrastrial space open to perilymph and abolishes its electrical isolation" [MGI:anna] is_a: MP:0004365 ! abnormal strial basal cell morphology [Term] id: MP:0004465 name: degeneration of organ of Corti supporting cells def: "degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna] synonym: "degeneration of the supporting cells of the organ of Corti" EXACT [] is_a: MP:0004300 ! abnormal organ of Corti supporting cell morphology [Term] id: MP:0004466 name: short cochlear outer hair cells def: "reduced height of the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve" [MGI:csmith] synonym: "short auditory outer hair cells" EXACT [] synonym: "short cochlear OHCs" EXACT [] is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology [Term] id: MP:0004467 name: absent zygomatic bone def: "absence of the quadrilateral bone that forms the prominence of the cheek" [ISBN:0-683-40008-8] is_a: MP:0005270 ! abnormal zygomatic bone morphology [Term] id: MP:0004468 name: small zygomatic bone def: "reduced size of the quadrilateral bone that forms the prominence of the cheek" [ISBN:0-683-40008-8] is_a: MP:0005270 ! abnormal zygomatic bone morphology [Term] id: MP:0004469 name: abnormal zygomatic arch morphology def: "any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone" [ISBN:0-683-40008-8] synonym: "abnormal malar arch morphology" EXACT [] synonym: "abnormal zygoma morphology" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0004470 name: small nasal bone def: "reduced size of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8] is_a: MP:0000102 ! abnormal nasal bone morphology [Term] id: MP:0004471 name: short nasal bone def: "reduced length of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8] is_a: MP:0004470 ! small nasal bone [Term] id: MP:0004472 name: broad nasal bone def: "increased width of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8] synonym: "wide nasal bone" EXACT [] is_a: MP:0000102 ! abnormal nasal bone morphology [Term] id: MP:0004473 name: absent nasal bone def: "absence of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8] is_a: MP:0000102 ! abnormal nasal bone morphology [Term] id: MP:0004474 name: enlarged nasal bone def: "increased size of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8] is_a: MP:0000102 ! abnormal nasal bone morphology [Term] id: MP:0004475 name: palatine bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in either of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits" [ISBN:0-683-40008-8] is_a: MP:0005249 ! abnormal palatine bone morphology [Term] id: MP:0004476 name: absent palatine bone def: "absence of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits" [ISBN:0-683-40008-8] is_a: MP:0005249 ! abnormal palatine bone morphology [Term] id: MP:0004477 name: turbinate hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the small curved bones that extends horizontally along the lateral wall of the nasal passage" [ISBN:0-683-40008-8] is_a: MP:0002244 ! abnormal turbinate morphology [Term] id: MP:0004478 name: testicular teratoma def: "a usually benign tumor found in the testis that is the result of an anomaly of germ cell development and typically contains a diversity of tissues often representing all organ systems e.g. hair, teeth, bone, thyroid, nerve tissue" [MGI:llw2] is_a: MP:0002627 ! teratoma is_a: MP:0006262 ! testis tumor [Term] id: MP:0004479 name: abnormal oval window morphology def: "any structural anomaly of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes" [ISBN:0-683-40008-8] synonym: "abnormal fenestra of the vestibule" EXACT [] synonym: "abnormal fenestra ovalis" EXACT [] synonym: "abnormal fenestra vestibuli" EXACT [] synonym: "abnormal vestibular window" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology [Term] id: MP:0004480 name: abnormal round window morphology def: "any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; serves to regulate fluid pressure in the inner ear" [ISBN:0-683-40008-8] synonym: "abnormal cochlear window" EXACT [] synonym: "abnormal fenestra cochleae" EXACT [] synonym: "abnormal fenestra of the cochlea" EXACT [] synonym: "abnormal fenestra rotunda" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology [Term] id: MP:0004481 name: abnormal conjunctival epithelium morphology def: "any structural anomaly of the conjunctival layer of epithelial cells covering inner surface of the eyelid and the front of the eyeball except over the cornea" [MGI:csmith] is_a: MP:0001310 ! abnormal conjunctiva morphology [Term] id: MP:0004482 name: abnormal interdental cell morphology def: "any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane" [MGI:csmith] is_a: MP:0004287 ! abnormal spiral limbus morphology [Term] id: MP:0004483 name: absent interdental cells def: "absence of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane" [MGI:csmith] is_a: MP:0004482 ! abnormal interdental cell morphology [Term] id: MP:0004484 name: altered response of heart to induced stress def: "change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0004485 name: increased response of heart to induced stress def: "increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith] synonym: "decreased protection of heart to induced stress" EXACT [] is_a: MP:0004484 ! altered response of heart to induced stress is_a: MP:0005165 ! increased susceptibility to injury [Term] id: MP:0004486 name: decreased response of heart to induced stress def: "decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith] synonym: "increased protection of heart from induced stress" EXACT [] synonym: "reduced response of heart to induced stress" EXACT [] is_a: MP:0004484 ! altered response of heart to induced stress is_a: MP:0005166 ! decreased susceptibility to injury [Term] id: MP:0004487 name: type I spiral ligament fibrocyte degeneration def: "degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis" [MGI:anna] is_a: MP:0004293 ! abnormal type I spiral ligament fibrocytes [Term] id: MP:0004488 name: type II spiral ligament fibrocyte degeneration def: "degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence" [MGI:anna] is_a: MP:0004294 ! abnormal type II spiral ligament fibrocytes [Term] id: MP:0004489 name: type III spiral ligament fibrocyte degeneration def: "degeneration or loss of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule" [MGI:anna] is_a: MP:0004295 ! abnormal type III spiral ligament fibrocytes [Term] id: MP:0004490 name: type IV spiral ligament fibrocyte degeneration def: "degeneration or loss of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest" [MGI:anna] is_a: MP:0004296 ! abnormal type IV spiral ligament fibrocytes [Term] id: MP:0004491 name: abnormal orientation of outer hair cell stereociliary bundles def: "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna] is_a: MP:0004522 ! abnormal orientation of cochlear hair cell stereociliary bundles is_a: MP:0004527 ! abnormal outer hair cell stereociliary bundle morphology [Term] id: MP:0004492 name: abnormal orientation of inner hair cell stereociliary bundles def: "misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna] is_a: MP:0004522 ! abnormal orientation of cochlear hair cell stereociliary bundles is_a: MP:0004532 ! abnormal inner hair cell stereociliary bundle morphology [Term] id: MP:0004493 name: dilated cochlea def: "the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith] synonym: "cochlea dilation" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0004494 name: abnormal synaptic glutamate release def: "aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors" [MGI:brs] is_a: MP:0005445 ! abnormal neurotransmitter secretion [Term] id: MP:0004495 name: decreased synaptic glutamate release def: "reduced secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors" [MGI:brs] synonym: "reduced synaptic glutamate release" EXACT [] is_a: MP:0003990 ! decreased neurotransmitter release is_a: MP:0004494 ! abnormal synaptic glutamate release [Term] id: MP:0004496 name: abnormal organ of Corti supporting cell number def: "abnormal number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti" [MGI:anna] synonym: "abnormal number of supporting cells of the organ of Corti" RELATED [] synonym: "abnormal supporting cell number of the organ of Corti" EXACT [] is_a: MP:0004300 ! abnormal organ of Corti supporting cell morphology [Term] id: MP:0004497 name: decreased organ of Corti supporting cell number def: "decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti" [MGI:anna] synonym: "decreased number of supporting cells of the organ of Corti" EXACT [] synonym: "decreased supporting cell number of the organ of Corti" EXACT [] synonym: "reduced supporting cell number of the organ of Corti" RELATED [] is_a: MP:0004496 ! abnormal organ of Corti supporting cell number [Term] id: MP:0004498 name: increased organ of Corti supporting cell number def: "increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti" [MGI:anna] synonym: "increased number of supporting cells of the organ of Corti" EXACT [] synonym: "increased supporting cell number of the organ of Corti" EXACT [] is_a: MP:0004496 ! abnormal organ of Corti supporting cell number [Term] id: MP:0004499 name: increased incidence of chemically-induced tumors def: "higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens" [MGI:smb] is_a: MP:0002021 ! increased incidence of induced tumors is_a: MP:0008873 ! increased physiological sensitivity to xenobiotic [Term] id: MP:0004500 name: increased incidence of ionizing radiation-induced tumors def: "higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays" [MGI:smb] is_a: MP:0002021 ! increased incidence of induced tumors [Term] id: MP:0004501 name: increased incidence of UV-induced tumors def: "higher than normal frequency of tumor incidence induced by exposure to ultraviolet light" [MGI:smb] is_a: MP:0002021 ! increased incidence of induced tumors [Term] id: MP:0004502 name: decreased incidence of chemically-induced tumors def: "lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens" [MGI:smb] synonym: "reduced incidence of chemically-induced tumors" EXACT [] is_a: MP:0002053 ! decreased incidence of induced tumors is_a: MP:0008874 ! decreased physiological sensitivity to xenobiotic [Term] id: MP:0004503 name: decreased incidence of ionizing radiation-induced tumors def: "lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays" [MGI:smb] synonym: "reduced incidence of ionizing radiation-induced tumors" EXACT [] is_a: MP:0002053 ! decreased incidence of induced tumors [Term] id: MP:0004504 name: decreased incidence of UV-induced tumors def: "lower than normal frequency of tumor incidence induced by exposure to ultraviolet light" [MGI:smb] synonym: "reduced incidence of UV-induced tumors" EXACT [] is_a: MP:0002053 ! decreased incidence of induced tumors [Term] id: MP:0004505 name: decreased renal glomerulus number def: "reduced number of the capillary loops of the kidney that normally function as a filtration unit" [MGI:monikat] synonym: "decreased number of renal glomeruli" EXACT [] synonym: "reduced glomerulus number" EXACT [] synonym: "reduced number of glomeruli" EXACT [] synonym: "reduced renal glomerulus number" EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology [Term] id: MP:0004506 name: abnormal pubis morphology def: "any structural anomaly of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis" [MGI:monikat] synonym: "abnormal pubic bone morphology" EXACT [] is_a: MP:0004509 ! abnormal pelvic girdle bone morphology [Term] id: MP:0004507 name: abnormal ischium morphology def: "any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat] is_a: MP:0004509 ! abnormal pelvic girdle bone morphology [Term] id: MP:0004508 name: abnormal pectoral girdle bone morphology def: "any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton" [MGI:cwg] synonym: "abnormal shoulder bone morphology" EXACT [] synonym: "abnormal shoulder girdle morphology" EXACT [] synonym: "shoulder bone dysplasia" EXACT [] is_a: MP:0009250 ! abnormal appendicular skeleton morphology [Term] id: MP:0004509 name: abnormal pelvic girdle bone morphology def: "any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal coxal bones" EXACT [] synonym: "abnormal innominate bones" EXACT [] synonym: "abnormal pelvic bone morphology" EXACT [] synonym: "abnormal pelvis bones" EXACT [] synonym: "pelvic girdle bone dysplasia" EXACT [] is_a: MP:0009250 ! abnormal appendicular skeleton morphology [Term] id: MP:0004510 name: myositis alt_id: MP:0001865 alt_id: MP:0004511 def: "inflammation of muscle; local accumulation of fluid, plasma proteins, and leukocytes in muscle" [ISBN:0-683-40008-8] synonym: "muscle inflammation" EXACT [] synonym: "skeletal muscle inflammation" EXACT [] synonym: "striated muscle inflammation" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0004512 name: anosmia def: "loss of the sense of smell" [MGI:mberry] is_a: MP:0001984 ! abnormal olfaction [Term] id: MP:0004513 name: avnosmia def: "loss of the ability to detect pheromones through the vomeronasal system" [MGI:csmith, PMID:12214233] is_a: MP:0005423 ! abnormal somatic nervous system physiology [Term] id: MP:0004514 name: dystocia def: "slow or difficult delivery of offspring and/or placenta" [MESH:C13.703.420.288] is_a: MP:0002907 ! abnormal parturition [Term] id: MP:0004515 name: abnormal vestibular hair cell stereociliary bundle morphology def: "any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule" [MGI:anna] synonym: "abnormal vestibular hair bundles" RELATED [] synonym: "abnormal vestibular hair cell stereocilia" EXACT [] synonym: "abnormal vestibular hair cell stereociliary bundles" EXACT [] is_a: MP:0002623 ! abnormal vestibular hair cell morphology [Term] id: MP:0004516 name: fused vestibular hair cell stereocilia def: "coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells, often resulting in giant stereocilia" [MGI:anna] synonym: "fused vestibular stereocilia" EXACT [] synonym: "giant vestibular stereocilia" EXACT [] is_a: MP:0004515 ! abnormal vestibular hair cell stereociliary bundle morphology [Term] id: MP:0004517 name: decreased vestibular hair cell stereocilia number def: "decreased number of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells in a staircase-like pattern" [MGI:anna] synonym: "reduced vestibular hair cell stereocilia number" EXACT [] is_a: MP:0004515 ! abnormal vestibular hair cell stereociliary bundle morphology [Term] id: MP:0004518 name: absent vestibular hair cell stereocilia def: "complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern" [MGI:anna] is_a: MP:0004515 ! abnormal vestibular hair cell stereociliary bundle morphology [Term] id: MP:0004519 name: thin vestibular hair cell stereocilia def: "reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern" [MGI:anna] is_a: MP:0004515 ! abnormal vestibular hair cell stereociliary bundle morphology [Term] id: MP:0004520 name: short vestibular hair cell stereocilia def: "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern" [MGI:anna] is_a: MP:0004515 ! abnormal vestibular hair cell stereociliary bundle morphology [Term] id: MP:0004521 name: abnormal cochlear hair cell stereociliary bundle morphology def: "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna] synonym: "abnormal cochlear hair bundles" EXACT [] synonym: "abnormal cochlear hair cell stereocilia" EXACT [] synonym: "abnormal cochlear hair cell stereociliary bundles" EXACT [] is_a: MP:0002622 ! abnormal cochlear hair cell morphology [Term] id: MP:0004522 name: abnormal orientation of cochlear hair cell stereociliary bundles def: "misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna] is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004523 name: decreased cochlear hair cell stereocilia number def: "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells" [MGI:anna] synonym: "reduced cochlear hair cell stereocilia number" EXACT [] is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004524 name: short cochlear hair cell stereocilia def: "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells" [MGI:anna] is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004525 name: thin cochlear hair cell stereocilia def: "reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells" [MGI:anna] is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004526 name: absent cochlear hair cell stereocilia def: "complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells" [MGI:anna] synonym: "absent cochlear hair cell stereocilium" EXACT [] is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004527 name: abnormal outer hair cell stereociliary bundle morphology def: "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna] synonym: "abnormal OHC bundles" EXACT [] synonym: "abnormal OHC stereocilia" EXACT [] synonym: "abnormal OHC stereociliary bundles" EXACT [] is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004528 name: fused outer hair cell stereocilia def: "coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells, often resulting in giant stereocilia" [MGI:anna] synonym: "fused OHC stereocilia" EXACT [] synonym: "giant OHC stereocilia" EXACT [] is_a: MP:0004527 ! abnormal outer hair cell stereociliary bundle morphology [Term] id: MP:0004529 name: decreased outer hair cell stereocilia number def: "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells" [MGI:anna] synonym: "reduced outer hair cell stereocilia number" EXACT [] is_a: MP:0004523 ! decreased cochlear hair cell stereocilia number is_a: MP:0004527 ! abnormal outer hair cell stereociliary bundle morphology [Term] id: MP:0004530 name: absent outer hair cell stereocilia def: "complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells" [MGI:anna] is_a: MP:0004527 ! abnormal outer hair cell stereociliary bundle morphology [Term] id: MP:0004531 name: short outer hair cell stereocilia def: "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells" [MGI:anna] is_a: MP:0004524 ! short cochlear hair cell stereocilia is_a: MP:0004527 ! abnormal outer hair cell stereociliary bundle morphology [Term] id: MP:0004532 name: abnormal inner hair cell stereociliary bundle morphology def: "any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna] synonym: "abnormal IHC bundles" EXACT [] synonym: "abnormal IHC stereocilia" EXACT [] synonym: "abnormal IHC stereociliary bundles" EXACT [] is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004533 name: fused inner hair cell stereocilia def: "coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia" [MGI:anna] synonym: "fused IHC stereocilia" EXACT [] synonym: "giant IHC stereocilia" EXACT [] is_a: MP:0004532 ! abnormal inner hair cell stereociliary bundle morphology [Term] id: MP:0004534 name: decreased inner hair cell stereocilia number def: "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells" [MGI:anna] synonym: "reduced inner hair cell stereocilia number" EXACT [] is_a: MP:0004523 ! decreased cochlear hair cell stereocilia number is_a: MP:0004532 ! abnormal inner hair cell stereociliary bundle morphology [Term] id: MP:0004535 name: absent inner hair cell stereocilia def: "complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells" [MGI:anna] is_a: MP:0004532 ! abnormal inner hair cell stereociliary bundle morphology [Term] id: MP:0004536 name: short inner hair cell stereocilia def: "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells" [MGI:anna] is_a: MP:0004524 ! short cochlear hair cell stereocilia is_a: MP:0004532 ! abnormal inner hair cell stereociliary bundle morphology [Term] id: MP:0004537 name: abnormal palatine shelf morphology def: "any structural anomaly of the bony projection of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal horizontal plate" EXACT [] synonym: "abnormal palatal process of palatine bone" EXACT [] synonym: "abnormal palatine palatal process" EXACT [] is_a: MP:0005249 ! abnormal palatine bone morphology is_a: MP:0009891 ! abnormal palate bone morphology [Term] id: MP:0004538 name: abnormal maxillary shelf morphology def: "any structural anomaly of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal maxillary palatal process" EXACT [] synonym: "abnormal palatal process of maxilla" EXACT [] synonym: "abnormal palatine process" EXACT [] is_a: MP:0000455 ! abnormal maxilla morphology is_a: MP:0009891 ! abnormal palate bone morphology [Term] id: MP:0004539 name: absent maxilla def: "missing the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8] synonym: "absent upper jaw" EXACT [] is_a: MP:0000455 ! abnormal maxilla morphology [Term] id: MP:0004540 name: small maxilla def: "reduced size of the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8] is_a: MP:0000455 ! abnormal maxilla morphology [Term] id: MP:0004541 name: absent auditory tube def: "absence of the tube connecting the tympanic cavity and the nasopharynx" [MGI:anna] synonym: "absent Eustachian tube" EXACT [] synonym: "absent pharyngotympanic tube" EXACT [] is_a: MP:0003330 ! abnormal auditory tube [Term] id: MP:0004542 name: impaired acrosome reaction def: "abnormality in the cellular exocytosis that allows sperm to penetrate the zona pellucida of ovulated eggs" [MGI:monikat] is_a: MP:0003666 ! impaired sperm capacitation is_a: MP:0005410 ! abnormal fertilization [Term] id: MP:0004543 name: abnormal sperm physiology def: "anomaly in the normal function of spermatozoa" [MGI:monikat] is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0004544 name: absent esophagus def: "absence of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:anna] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0004545 name: enlarged esophagus def: "increased size of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:anna] synonym: "megaesophagus" RELATED [] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0004546 name: esophagus hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the esophagus" [MGI:anna] synonym: "esophageal hyperplasia" EXACT [] is_a: MP:0004545 ! enlarged esophagus [Term] id: MP:0004547 name: esophageal ulcer def: "a lesion on the mucosal surface of the esophagus, usually produced by the sloughing of inflammatory necrotic tissue" [MGI:anna] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0004548 name: dilated esophagus def: "an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:anna] synonym: "esophageal dilation" EXACT [] synonym: "esophagus dilation" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0004549 name: small trachea def: "reduced size of the tube descending from the larynx and branching into the right and left main bronchi" [MGI:anna] is_a: MP:0002282 ! abnormal trachea morphology [Term] id: MP:0004550 name: short trachea def: "reduced length of the tube descending from the larynx and branching into the right and left main bronchi" [MGI:anna] is_a: MP:0004549 ! small trachea [Term] id: MP:0004551 name: decreased tracheal cartilage ring number def: "less than the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea" [MGI:anna] synonym: "reduced tracheal cartilage ring number" EXACT [] synonym: "reduced tracheal ring number" EXACT [] is_a: MP:0003120 ! abnormal tracheal cartilage morphology [Term] id: MP:0004552 name: fused tracheal cartilage rings def: "fusion of the 16-20 incomplete rings of hyaline cartilage that form the skeleton of the trachea" [MGI:anna] synonym: "fused tracheal rings" EXACT [] is_a: MP:0003120 ! abnormal tracheal cartilage morphology [Term] id: MP:0004553 name: absent tracheal cartilage rings def: "absence of the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea" [MGI:anna] synonym: "absent tracheal cartilage" EXACT [] synonym: "absent tracheal rings" EXACT [] is_a: MP:0003120 ! abnormal tracheal cartilage morphology [Term] id: MP:0004554 name: small pharynx def: "reduced size/diameter of the passage between the mouth and the posterior nares and the larynx and esophagus" [MGI:anna] synonym: "narrow pharynx" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0004555 name: pharynx hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the passage between the mouth and the posterior nares and the larynx and esophagus" [MGI:anna] synonym: "hypoplastic pharynx" EXACT [] synonym: "pharyngeal hypoplasia" EXACT [] is_a: MP:0004554 ! small pharynx [Term] id: MP:0004556 name: enlarged allantois def: "increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna] is_a: MP:0001726 ! abnormal allantois morphology [Term] id: MP:0004557 name: dilated allantois def: "an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention" [MGI:anna] synonym: "allantois dilation" EXACT [] synonym: "distended allantois" EXACT [] synonym: "swollen allantois" EXACT [] is_a: MP:0001726 ! abnormal allantois morphology [Term] id: MP:0004558 name: delayed allantois development def: "late onset of development of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna] synonym: "retarded allantois formation" EXACT [] is_a: MP:0001726 ! abnormal allantois morphology [Term] id: MP:0004559 name: small allantois def: "reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna] is_a: MP:0001726 ! abnormal allantois morphology [Term] id: MP:0004560 name: abnormal chorionic plate morphology def: "any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta" [MGI:csmith, MGI:monikat] is_a: MP:0001712 ! abnormal placenta development is_a: MP:0002836 ! abnormal chorion morphology [Term] id: MP:0004561 name: absent facial nerve def: "absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue" [ISBN:0838580343] is_a: MP:0001071 ! abnormal facial nerve morphology [Term] id: MP:0004562 name: abnormal inner hair cell synaptic ribbon morphology def: "any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse" [MGI:anna] synonym: "abnormal IHC synaptic ribbon" EXACT [] is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology [Term] id: MP:0004563 name: absent active-zone-anchored inner hair cell synaptic ribbon def: "absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse" [MGI:anna] synonym: "absent IHC synaptic ribbon" EXACT [] is_a: MP:0004562 ! abnormal inner hair cell synaptic ribbon morphology [Term] id: MP:0004564 name: enlarged myocardial fiber def: "increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat] synonym: "enlarged adult cardiomyocyte" EXACT [] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0004565 name: small myocardial fiber def: "decreased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat] synonym: "small adult cardiomyocyte" EXACT [] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0004566 name: myocardial fiber degeneration def: "deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat] synonym: "adult cardiomyocyte degeneration" EXACT [] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0004567 name: decreased myocardial fiber number def: "decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat] synonym: "decreased adult cardiomyocyte number" EXACT [] synonym: "reduced adult cardiomyocyte number" EXACT [] synonym: "reduced myocardial fiber number" EXACT [] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0004568 name: fusion of glossopharyngeal and vagus nerve def: "union of the ninth and tenth cranial nerves into a single structure" [MGI:csmith] is_a: MP:0001073 ! abnormal glossopharyngeal nerve morphology is_a: MP:0001074 ! abnormal vagus nerve morphology [Term] id: MP:0004569 name: glossopharyngeal nerve hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion" [ISBN:0838580343, MGI:csmith] is_a: MP:0001073 ! abnormal glossopharyngeal nerve morphology [Term] id: MP:0004570 name: absent glossopharyngeal nerve def: "absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion" [ISBN:0838580343, MGI:csmith] is_a: MP:0001073 ! abnormal glossopharyngeal nerve morphology [Term] id: MP:0004571 name: absent vagus nerve def: "absence of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis" [ISBN:0838580343, MGI:csmith] is_a: MP:0001074 ! abnormal vagus nerve morphology [Term] id: MP:0004572 name: fusion of basioccipital and basisphenoid bone def: "union of the basioccipital and basisphenoid bones into one structure, when this fusion does not normally occur (such as in a species where these bones normally persist as separate entities)" [MGI:csmith] is_a: MP:0000079 ! abnormal basioccipital bone morphology is_a: MP:0000106 ! abnormal basisphenoid bone morphology [Term] id: MP:0004573 name: absent limb buds def: "missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:A16.567] is_a: MP:0005650 ! abnormal limb bud morphology [Term] id: MP:0004574 name: broad limb buds def: "increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:A16.567] synonym: "wide limb buds" EXACT [] is_a: MP:0005650 ! abnormal limb bud morphology [Term] id: MP:0004575 name: small limb buds def: "reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:A16.567] is_a: MP:0005650 ! abnormal limb bud morphology [Term] id: MP:0004576 name: abnormal foot plate morphology def: "any structural anomaly of the distal elements of the developing limb of vertebrates that will give rise to the pedal appendages (e.g. hand, foot, paw)" [MGI:csmith] synonym: "abnormal footplate morphology" EXACT [] synonym: "abnormal hand plate morphology" EXACT [] synonym: "abnormal handplate morphology" EXACT [] synonym: "abnormal limb plate morphology" EXACT [] is_a: MP:0006279 ! abnormal limb development [Term] id: MP:0004577 name: abnormal cochlear hair cell inter-stereocilial links morphology def: "any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles" [MGI:anna] is_a: MP:0004521 ! abnormal cochlear hair cell stereociliary bundle morphology [Term] id: MP:0004578 name: abnormal cochlear hair bundle tip links morphology def: "any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin" [MGI:anna] is_a: MP:0004577 ! abnormal cochlear hair cell inter-stereocilial links morphology [Term] id: MP:0004579 name: abnormal cochlear hair bundle horizontal top connectors morphology def: "any structural anomaly in the inter-stereocilial links that connect the top of a shorter stereocilium to an adjacent longer stereocilium at a short distance below the tip links; the appearance of horizontal top connectors, which persist into adulthood, occurs concomitant with this loss of ankle links; top connectors are essentially unaffected by treatment with subtilisin and EGTA" [MGI:anna] is_a: MP:0004577 ! abnormal cochlear hair cell inter-stereocilial links morphology [Term] id: MP:0004580 name: abnormal cochlear hair bundle transient lateral links morphology def: "any structural anomaly in the fine lateral links that interconnect stereocilia at prenatal stages; transient lateral links diminish at early postnatal stages when ankle links appear at the base of stereocilia, and are essentially unaffected by treatment with subtilisin and EGTA" [MGI:anna] is_a: MP:0004577 ! abnormal cochlear hair cell inter-stereocilial links morphology [Term] id: MP:0004581 name: abnormal cochlear hair bundle ankle links morphology def: "any structural anomaly in the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down; in the mouse, ankle links are only a transient feature of the developing cochlear hair bundles, present predominantly from P2 though P9, but are absent by P12; ankle links are disrupted by treatment of hair cells with EGTA and subtilisin but not by La3+ and elastase" [MGI:anna] is_a: MP:0004577 ! abnormal cochlear hair cell inter-stereocilial links morphology [Term] id: MP:0004582 name: absent cochlear hair bundle ankle links def: "absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down" [MGI:anna] is_a: MP:0004581 ! abnormal cochlear hair bundle ankle links morphology [Term] id: MP:0004583 name: abnormal vestibular hair bundle inter-stereocilial links def: "any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of vestibular hair bundles" [MGI:anna] is_a: MP:0004515 ! abnormal vestibular hair cell stereociliary bundle morphology [Term] id: MP:0004584 name: abnormal vestibular hair bundle shaft connectors def: "any structural anomaly in the links that connect the shafts of neighboring stereocilia in vestibular hair bundles; each shaft connector is composed of a ruthenium red-reactive, electron-dense particle that is connected to the plasma membrane by several fine strands of variable length" [MGI:anna] is_a: MP:0004583 ! abnormal vestibular hair bundle inter-stereocilial links [Term] id: MP:0004585 name: absent vestibular hair bundle shaft connectors def: "absence of the inter-stereocilial links that connect the shafts of neighboring stereocilia in vestibular hair bundles" [MGI:anna] is_a: MP:0004584 ! abnormal vestibular hair bundle shaft connectors [Term] id: MP:0004586 name: pillar cell degeneration def: "degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti" [MGI:anna] is_a: MP:0003825 ! abnormal pillar cell morphology [Term] id: MP:0004587 name: decreased cellular sensitivity to X-ray irradiation def: "decreased incidence of cell death following exposure to high levels of X-ray irradiation" [MGI:monikat] synonym: "decreased cellular susceptibility to X-ray irradiation" EXACT [] synonym: "increased cellular resistance to X-ray irradiation" EXACT [] synonym: "reduced cellular sensitivity to X-ray irradiation" EXACT [] is_a: MP:0004228 ! decreased cellular sensitivity to ionizing radiation [Term] id: MP:0004588 name: abnormal vestibular hair cell development def: "atypical initial production, differentiation, migration or maturation of hair cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the inner ear" [MGI:anna] is_a: MP:0002623 ! abnormal vestibular hair cell morphology is_a: MP:0003938 ! abnormal ear development [Term] id: MP:0004589 name: abnormal cochlear hair cell development def: "atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea" [MGI:anna] synonym: "abnormal auditory hair cell development" EXACT [] is_a: MP:0002622 ! abnormal cochlear hair cell morphology is_a: MP:0003938 ! abnormal ear development [Term] id: MP:0004590 name: absent Deiters cells def: "absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna] synonym: "absent phalangeal cells" EXACT [] is_a: MP:0004302 ! abnormal Deiters cell morphology [Term] id: MP:0004591 name: enlarged tectorial membrane def: "increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells" [MGI:anna] is_a: MP:0003149 ! abnormal tectorial membrane morphology [Term] id: MP:0004592 name: small mandible def: "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8] synonym: "small lower jaw" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology [Term] id: MP:0004593 name: long mandible def: "increased length of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8] synonym: "increased mandible length" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology [Term] id: MP:0004594 name: abnormal mandibular coronoid process morphology def: "any structural anomaly of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion); includes the attachment site to the temporal muscle" [MGI:csmith] synonym: "abnormal coronoid process of the mandible morphology" EXACT [] is_a: MP:0010150 ! abnormal mandibule ramus morphology [Term] id: MP:0004595 name: abnormal mandibular condyloid process morphology def: "any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith] synonym: "abnormal condyloid process of the mandible morphology" EXACT [] is_a: MP:0010150 ! abnormal mandibule ramus morphology [Term] id: MP:0004596 name: abnormal mandibular angle morphology def: "any structural anomaly of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles" [MGI:csmith] synonym: "abnormal angular process of the mandible morphology" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology [Term] id: MP:0004597 name: increased susceptibility to noise-induced hearing loss def: "greater than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea" [MGI:anna] synonym: "decreased resistance to noise-induced hearing loss" EXACT [] is_a: MP:0006334 ! abnormal susceptibility to hearing loss [Term] id: MP:0004598 name: abnormal cochlear basement membrane morphology def: "any structural anomaly in the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes" [MGI:anna] is_a: MP:0000031 ! abnormal cochlea morphology is_a: MP:0004272 ! abnormal basement membrane morphology [Term] id: MP:0004599 name: abnormal vertebral arch morphology alt_id: MP:0009730 def: "any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal dorsal arch morphology" EXACT [] synonym: "abnormal neural arch morphology" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0004600 name: abnormal vertebral transverse process morphology def: "any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes" [MGI:csmith] subset: Sanger_Terms is_a: MP:0004599 ! abnormal vertebral arch morphology [Term] id: MP:0004601 name: abnormal vertebral spinous process morphology def: "any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments" [ISBN:0-683-40008-8, MGI:csmith] subset: Sanger_Terms synonym: "abnormal dorsal spine" EXACT [] synonym: "abnormal vertebral spine" EXACT [] is_a: MP:0004599 ! abnormal vertebral arch morphology [Term] id: MP:0004602 name: abnormal vertebral articular process morphology def: "any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0004599 ! abnormal vertebral arch morphology [Term] id: MP:0004603 name: absent vertebral arch def: "loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" [MGI:csmith] synonym: "absent dorsal arch" EXACT [] synonym: "absent neural arch" EXACT [] is_a: MP:0004599 ! abnormal vertebral arch morphology [Term] id: MP:0004604 name: abnormal vertebral pedicle morphology def: "any structural anomaly of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0004599 ! abnormal vertebral arch morphology [Term] id: MP:0004605 name: abnormal vertebral lamina morphology def: "any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0004599 ! abnormal vertebral arch morphology [Term] id: MP:0004606 name: absent vertebral spinous process def: "missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments" [ISBN:0-683-40008-8] synonym: "absent vertebral spine" EXACT [] is_a: MP:0004601 ! abnormal vertebral spinous process morphology [Term] id: MP:0004607 name: abnormal cervical atlas morphology def: "any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal C1 vertebra morphology" EXACT [] is_a: MP:0003048 ! abnormal cervical vertebrae morphology [Term] id: MP:0004608 name: abnormal cervical axis morphology def: "any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal C2 vertebra morphology" EXACT [] synonym: "abnormal epistropheus morphology" EXACT [] is_a: MP:0003048 ! abnormal cervical vertebrae morphology [Term] id: MP:0004609 name: vertebral fusion def: "the union of one or more vertebrae into a single structure" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "vertebral ankylosis" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology is_a: MP:0003189 ! fused joints [Term] id: MP:0004610 name: small vertebrae def: "reduced size of the bony segments of the spinal column" [MGI:csmith] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0004611 name: increased susceptibility to ototoxicity-induced hearing loss def: "greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process" [MGI:anna] synonym: "decreased resistance to ototoxicity-induced hearing loss" EXACT [] is_a: MP:0006334 ! abnormal susceptibility to hearing loss is_a: MP:0008873 ! increased physiological sensitivity to xenobiotic [Term] id: MP:0004612 name: fusion of vertebral bodies def: "improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal" [MGI:csmith] is_a: MP:0000141 ! abnormal vertebral body morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004613 name: fusion of vertebral arches def: "improper union of the dorsal part of adjacent vertebra" [MGI:csmith] subset: Sanger_Terms synonym: "fusion of dorsal arches" EXACT [] synonym: "fusion of neural arches" EXACT [] is_a: MP:0004599 ! abnormal vertebral arch morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004614 name: caudal vertebral transformation def: "homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae" [MGI:csmith] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. subset: Sanger_Terms synonym: "caudal transitional vertebrae" EXACT [] is_a: MP:0002759 ! abnormal caudal vertebrae morphology is_a: MP:0003036 ! vertebral transformation [Term] id: MP:0004615 name: cervical vertebral transformation def: "homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae" [MGI:csmith] synonym: "cervical transitional vertebrae" EXACT [] is_a: MP:0003036 ! vertebral transformation is_a: MP:0003048 ! abnormal cervical vertebrae morphology [Term] id: MP:0004616 name: lumbar vertebral transformation def: "homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae" [MGI:csmith] synonym: "lumbar transitional vertebrae" EXACT [] is_a: MP:0003036 ! vertebral transformation is_a: MP:0003049 ! abnormal lumbar vertebrae morphology [Term] id: MP:0004617 name: sacral vertebral transformation def: "homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae" [MGI:csmith] synonym: "sacral transitional vertebrae" EXACT [] is_a: MP:0003036 ! vertebral transformation is_a: MP:0003050 ! abnormal sacral vertebrae morphology [Term] id: MP:0004618 name: thoracic vertebral transformation def: "homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae" [MGI:csmith] synonym: "thoracic transitional vertebrae" RELATED [] is_a: MP:0003036 ! vertebral transformation is_a: MP:0003047 ! abnormal thoracic vertebrae morphology [Term] id: MP:0004619 name: caudal vertebral fusion def: "the union of one or more caudal vertebrae into a single structure in species where this does not normally occur" [MGI:csmith] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. subset: Sanger_Terms synonym: "caudal vertebral ankylosis" EXACT [] is_a: MP:0002759 ! abnormal caudal vertebrae morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004620 name: cervical vertebral fusion def: "the union of one or more cervical vertebrae into a single structure" [MGI:csmith] subset: Sanger_Terms synonym: "cervical vertebral ankylosis" EXACT [] is_a: MP:0003048 ! abnormal cervical vertebrae morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004621 name: lumbar vertebral fusion def: "the union of one or more lumbar vertebrae into a single structure" [MGI:csmith] synonym: "lumbar vertebral ankylosis" EXACT [] is_a: MP:0003049 ! abnormal lumbar vertebrae morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004622 name: sacral vertebral fusion def: "the union of one or more sacral vertebrae into a single structure in species where this does not normally occur" [MGI:csmith] comment: In humans, vertebrae S1-S5 are normally fused in maturity, with no intervertebral discs. In rodents, these vertebrae remain distinct in adulthood. is_a: MP:0003050 ! abnormal sacral vertebrae morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004623 name: thoracic vertebral fusion def: "the union of one or more thoracic vertebrae into a single structure" [MGI:csmith] synonym: "thoracic vertebral ankylosis" EXACT [] is_a: MP:0003047 ! abnormal thoracic vertebrae morphology is_a: MP:0004609 ! vertebral fusion [Term] id: MP:0004624 name: abnormal thoracic cage morphology def: "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith] synonym: "abnormal rib cage morphology" EXACT [] synonym: "abnormal ribcage morphology" EXACT [] synonym: "abnormal thoracic basket morphology" EXACT [] is_a: MP:0002114 ! abnormal axial skeleton morphology [Term] id: MP:0004625 name: abnormal rib attachment def: "any anomaly in the in the normal joining of the ribs to the vertebral column or to the sternum" [MGI:csmith] is_a: MP:0000150 ! abnormal rib morphology is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0004626 name: vertebral compression def: "appearance of vertebrae that are flattened laterally along the whole length such that they appear pressed together and take up less rostrocaudal space" [MGI:csmith] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0004627 name: abnormal trochanter morphology def: "any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles" [ISBN:0-683-40008-8] is_a: MP:0000559 ! abnormal femur morphology [Term] id: MP:0004628 name: Deiters cell degeneration def: "degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna] synonym: "phalangeal cell degeneration" EXACT [] is_a: MP:0004302 ! abnormal Deiters cell morphology [Term] id: MP:0004629 name: abnormal spiral modiolar artery morphology def: "any structural anomaly of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus, serving the ganglion and the cochlear duct and its contents" [MGI:anna] is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0004630 name: spiral modiolar artery stenosis def: "abnormal narrowing of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus and serves the ganglion and the cochlear duct and its contents" [MGI:anna] is_a: MP:0004629 ! abnormal spiral modiolar artery morphology is_a: MP:0006135 ! artery stenosis [Term] id: MP:0004631 name: abnormal auditory cortex morphology def: "any structural anomaly in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body, a thalamic cell group receiving auditory input from the cochlear nuclei in the rhombencephalon and is responsible for processing of auditory (sound) information" [MGI:anna] is_a: MP:0000801 ! abnormal temporal lobe morphology [Term] id: MP:0004632 name: abnormal cochlear OHC efferent innervation pattern def: "any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs" [MGI:anna] is_a: MP:0000968 ! abnormal sensory neuron innervation pattern is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology [Term] id: MP:0004633 name: abnormal cochlear IHC efferent innervation pattern def: "any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs" [MGI:anna] is_a: MP:0000968 ! abnormal sensory neuron innervation pattern is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology [Term] id: MP:0004634 name: short metacarpal bones def: "reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8] synonym: "reduced length of metacarpal bones" EXACT [] is_a: MP:0003073 ! abnormal metacarpal bone morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0004635 name: short metatarsal bones def: "reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges" [ISBN:0-683-40008-8] synonym: "reduced length of metatarsal bones" EXACT [] is_a: MP:0003072 ! abnormal metatarsal bone morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0004636 name: decreased metacarpal bone number def: "reduced number of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8] synonym: "decreased number of metacarpal bones" EXACT [] synonym: "reduced metacarpal bone number" RELATED [] is_a: MP:0003073 ! abnormal metacarpal bone morphology [Term] id: MP:0004637 name: metacarpal bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8] is_a: MP:0003073 ! abnormal metacarpal bone morphology [Term] id: MP:0004638 name: elongated metacarpal bones def: "increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8] is_a: MP:0003073 ! abnormal metacarpal bone morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0004639 name: fused metacarpal bones def: "improper union of one or more of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8] is_a: MP:0003073 ! abnormal metacarpal bone morphology [Term] id: MP:0004640 name: decreased metatarsal bone number def: "reduced number of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges" [ISBN:0-683-40008-8] synonym: "decreased number of metatarsal bones" EXACT [] synonym: "reduced metatarsal bone number" EXACT [] is_a: MP:0003072 ! abnormal metatarsal bone morphology [Term] id: MP:0004641 name: elongated metatarsal bones def: "increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges" [ISBN:0-683-40008-8] is_a: MP:0003072 ! abnormal metatarsal bone morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0004642 name: fused metatarsal bones def: "improper union of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges" [ISBN:0-683-40008-8] is_a: MP:0003072 ! abnormal metatarsal bone morphology [Term] id: MP:0004643 name: abnormal vertebrae number def: "altered number of the bony segments of the spinal column" [ISBN:0-683-40008-8] synonym: "abnormal number of vertebrae" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0004644 name: increased vertebrae number def: "an increase over the normal number of the bony segments of the spinal column" [ISBN:0-683-40008-8] synonym: "increased number of vertebrae" RELATED [] synonym: "supernumerary vertebrae" EXACT [] is_a: MP:0004643 ! abnormal vertebrae number [Term] id: MP:0004645 name: decreased vertebrae number def: "a reduction from the normal number of the bony segments of the spinal column" [ISBN:0-683-40008-8] synonym: "decreased number of vertebrae" EXACT [] synonym: "reduced number of vertebrae" EXACT [] synonym: "reduced vertebrae number" EXACT [] is_a: MP:0004643 ! abnormal vertebrae number [Term] id: MP:0004646 name: decreased cervical vertebrae number def: "reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of cervical vertebrae" EXACT [] synonym: "reduced cervical vertebrae number" EXACT [] synonym: "reduced number of cervical vertebrae" EXACT [] is_a: MP:0000461 ! decreased presacral vertebrae number is_a: MP:0003048 ! abnormal cervical vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0004647 name: decreased lumbar vertebrae number def: "reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:A02.835.232.834.519] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of lumbar vertebrae" EXACT [] synonym: "reduced lumbar vertebrae number" EXACT [] is_a: MP:0000461 ! decreased presacral vertebrae number is_a: MP:0003049 ! abnormal lumbar vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0004648 name: decreased thoracic vertebrae number def: "reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:A02.835.232.834.892] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of thoracic vertebrae" RELATED [] synonym: "reduced thoracic vertebrae number" EXACT [] is_a: MP:0000461 ! decreased presacral vertebrae number is_a: MP:0003047 ! abnormal thoracic vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0004649 name: decreased sacral vertebrae number def: "reduced number of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of sacral vertebrae" RELATED [] synonym: "reduced sacral vertebrae number" EXACT [] is_a: MP:0003050 ! abnormal sacral vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0004650 name: increased lumbar vertebrae number def: "increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:A02.835.232.834.519] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased number of lumbar vertebrae" EXACT [] is_a: MP:0000464 ! increased presacral vertebrae number is_a: MP:0003049 ! abnormal lumbar vertebrae morphology is_a: MP:0004644 ! increased vertebrae number [Term] id: MP:0004651 name: increased thoracic vertebrae number def: "increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:A02.835.232.834.892] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased number of thoracic vertebrae" EXACT [] is_a: MP:0000464 ! increased presacral vertebrae number is_a: MP:0003047 ! abnormal thoracic vertebrae morphology is_a: MP:0004644 ! increased vertebrae number [Term] id: MP:0004652 name: small caudal vertebrae def: "reduced size of the bony segments of the coccyx or tail" [MGI:csmith] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. is_a: MP:0002759 ! abnormal caudal vertebrae morphology [Term] id: MP:0004653 name: absent caudal vertebrae def: "absence of all of the bony segments of the coccyx or tail" [MGI:csmith] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. is_a: MP:0002759 ! abnormal caudal vertebrae morphology [Term] id: MP:0004654 name: absent lumbar vertebrae def: "absence of all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:A02.835.232.834.519] is_a: MP:0003049 ! abnormal lumbar vertebrae morphology [Term] id: MP:0004655 name: absent thoracic vertebrae def: "absence of all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:A02.835.232.834.892] is_a: MP:0003047 ! abnormal thoracic vertebrae morphology [Term] id: MP:0004656 name: absent sacral vertebrae def: "absence of all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith] is_a: MP:0003050 ! abnormal sacral vertebrae morphology [Term] id: MP:0004657 name: small sacral vertebrae def: "reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith] is_a: MP:0003050 ! abnormal sacral vertebrae morphology [Term] id: MP:0004658 name: abnormal ventral tubercle of atlas morphology def: "any structural anomaly of the conical ventral projection on the arch of the atlas" [MGI:csmith] is_a: MP:0004607 ! abnormal cervical atlas morphology [Term] id: MP:0004659 name: abnormal odontoid process morphology def: "any structural anomaly of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates" [ISBN:0-683-40008-8, MESH:A02.835.232.834.151.383.668] synonym: "abnormal dens morphology" EXACT [] synonym: "abnormal odontoid peg morphology" EXACT [] is_a: MP:0004608 ! abnormal cervical axis morphology [Term] id: MP:0004660 name: absent thyroid follicular cells def: "absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor" [MGI:anna] is_a: MP:0004697 ! abnormal thyroid follicular cell morphology [Term] id: MP:0004661 name: absent thyroid parafollicular C-cells def: "absence of the calcitonin-producing C-cells which are derived from the ultimobranchial body (a sac-like structure emanating from the neural crest) and constitute the minor component of the thyroid gland" [MGI:anna] is_a: MP:0004698 ! abnormal thyroid parafollicular C-cell morphology [Term] id: MP:0004662 name: abnormal thyroid diverticulum morphology def: "any structural anomaly in the endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor" [MGI:anna] is_a: MP:0003421 ! abnormal thyroid gland development [Term] id: MP:0004663 name: athyroidism def: "congenital absence of the thyroid gland or suppression or absence of its hormonal secretion" [MGI:anna] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0004664 name: delayed inner ear development def: "slowed progression to structurally mature components of the labyrinth, including the semicircular canals, vestibule and cochlea" [MGI:anna] is_a: MP:0011238 ! abnormal inner ear development [Term] id: MP:0004665 name: abnormal stapedial artery morphology def: "any structural anomaly in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood" [MGI:anna] is_a: MP:0005107 ! abnormal stapes morphology is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0004666 name: absent stapedial artery def: "absence of the small artery that passes through the ring of the stapes" [MGI:anna] is_a: MP:0004665 ! abnormal stapedial artery morphology [Term] id: MP:0004667 name: vertebral body hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8] synonym: "hypoplastic vertebral body" EXACT [] is_a: MP:0004670 ! small vertebral body [Term] id: MP:0004668 name: absent vertebral body def: "absence of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8] is_a: MP:0000141 ! abnormal vertebral body morphology [Term] id: MP:0004669 name: enlarged vertebral body def: "increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8] is_a: MP:0000141 ! abnormal vertebral body morphology [Term] id: MP:0004670 name: small vertebral body def: "decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8] is_a: MP:0000141 ! abnormal vertebral body morphology [Term] id: MP:0004671 name: long ribs def: "increased length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004672 name: short ribs def: "reduced length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004673 name: splayed ribs def: "any deviation from the normal curvature of the ribs such that the ribs are turned outward" [MGI:csmith] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004674 name: thin ribs def: "a more slender appearance of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8, MGI:csmith] synonym: "gracile ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004675 name: rib fractures def: "a crack or break in the bones forming the bony wall of the chest" [ISBN:0-683-40008-8] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004676 name: wide ribs def: "an increase in the width of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8] synonym: "broad ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004677 name: truncated ribs def: "ribs that terminate abruptly as if having an end or point cut off" [MGI:csmith] subset: Sanger_Terms is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0004678 name: split xiphoid process def: "the appearance of an abnormal division of the posterior tip of the sternum" [MGI:csmith] synonym: "bifid xiphoid process" EXACT [] is_a: MP:0000159 ! abnormal xiphoid process morphology [Term] id: MP:0004679 name: xiphoid process foramen def: "the appearance of a hole or holes in the posterior tip of the sternum" [ISBN:0-683-40008-8] is_a: MP:0000159 ! abnormal xiphoid process morphology [Term] id: MP:0004680 name: small xiphoid process def: "reduced size of the posterior tip of the sternum" [ISBN:0-683-40008-8] is_a: MP:0000159 ! abnormal xiphoid process morphology [Term] id: MP:0004681 name: intervertebral disk hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith, MGI:smb] is_a: MP:0004682 ! small intervertebral disk [Term] id: MP:0004682 name: small intervertebral disk def: "reduced size of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith, MGI:smb] is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0004683 name: absent intervertebral disk def: "absence of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith, MGI:smb] is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0004684 name: intervertebral disk degeneration def: "retrogressive pathological change of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith, MGI:smb] synonym: "spondylosis" EXACT [] is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0004685 name: calcified intervertebral disk def: "process in which the cartilaginous and gelatinous structure found between vertebrae becomes hardened due to deposits of calcium salts" [MGI:csmith] synonym: "intervertebral calcification" BROAD [] is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0004686 name: decreased length of long bones def: "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith] synonym: "reduced length of long bones" EXACT [] synonym: "short long bones" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0004687 name: split vertebrae def: "any vertebrae or vertebral section that is cleft into two parts" [MGI:csmith] synonym: "bifid vertebrae" EXACT [] synonym: "cleft vertebrae" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0004688 name: absent ilium def: "absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis" [ISBN:0-683-40008-8] is_a: MP:0005354 ! abnormal ilium morphology [Term] id: MP:0004689 name: small ischium def: "reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat] synonym: "small ischium bone" RELATED [] is_a: MP:0004507 ! abnormal ischium morphology [Term] id: MP:0004690 name: ischium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat] synonym: "ischium bone hypoplasia" EXACT [] is_a: MP:0004689 ! small ischium [Term] id: MP:0004691 name: absent pubis def: "absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis" [MGI:monikat] synonym: "absent pubic bone" EXACT [] is_a: MP:0004506 ! abnormal pubis morphology [Term] id: MP:0004692 name: small pubis def: "reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis" [MGI:monikat] synonym: "small pubic bone" RELATED [] is_a: MP:0004506 ! abnormal pubis morphology [Term] id: MP:0004693 name: pubis hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis" [MGI:monikat] synonym: "pubic bone hypoplasia" EXACT [] is_a: MP:0004692 ! small pubis [Term] id: MP:0004694 name: absent patella def: "absence of the large sesamoid bone that covers the anterior surface of the knee" [ISBN:0-683-40008-8] is_a: MP:0005353 ! abnormal patella morphology [Term] id: MP:0004695 name: increased length of long bones def: "greater end-to-end length of the several elongated bones of the extremities" [MGI:csmith] synonym: "long long bones" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0004696 name: abnormal thyroid follicle morphology def: "any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones" [ISBN:0-683-40008-8] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0004697 name: abnormal thyroid follicular cell morphology def: "any structural anomaly of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor" [MGI:anna] synonym: "abnormal thyrocyte morphology" EXACT [] synonym: "abnormal thyroid principal cell morphology" EXACT [] is_a: MP:0004696 ! abnormal thyroid follicle morphology [Term] id: MP:0004698 name: abnormal thyroid parafollicular C-cell morphology def: "any structural anomaly of the calcitonin-producing C-cells which are derived from the ultimobranchial body (a sac-like structure emanating from the neural crest) and constitute the minor component of the thyroid gland" [MGI:anna] synonym: "abnormal thyroid parafollicular C-cells" BROAD [] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0004699 name: unilateral deafness def: "bilateral asymmetry in auditory function whereby one of the two ears displays auditory thresholds indicative of intact hearing while the other ear displays thresholds reflecting auditory dysfunction" [MGI:anna] is_a: MP:0006325 ! impaired hearing [Term] id: MP:0004700 name: abnormal circulating insulin-like growth factor I level def: "anomalous blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MESH:D12.644.276.937.400, MGI:csmith] synonym: "abnormal circulating IGF-I level" EXACT [] synonym: "abnormal circulating IGF1 level" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0008831 ! abnormal insulin-like growth factor I level [Term] id: MP:0004701 name: decreased circulating insulin-like growth factor I level def: "reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MGI:csmith] synonym: "reduced circulating insulin-like growth factor I level" EXACT [] is_a: MP:0004700 ! abnormal circulating insulin-like growth factor I level [Term] id: MP:0004702 name: increased circulating insulin-like growth factor I level def: "increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MGI:csmith] is_a: MP:0004700 ! abnormal circulating insulin-like growth factor I level [Term] id: MP:0004703 name: abnormal vertebral column morphology def: "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith] synonym: "abnormal backbone morphology" EXACT [] synonym: "abnormal spinal column morphology" EXACT [] synonym: "abnormal spine morphology" EXACT [] is_a: MP:0002114 ! abnormal axial skeleton morphology [Term] id: MP:0004704 name: short vertebral column def: "decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith] synonym: "short spinal axis" EXACT [] synonym: "short spinal column" EXACT [] synonym: "short spine" EXACT [] is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0004705 name: elongated vertebral body def: "increased length of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8] is_a: MP:0000141 ! abnormal vertebral body morphology [Term] id: MP:0004706 name: short vertebral body def: "reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8] is_a: MP:0004670 ! small vertebral body [Term] id: MP:0004707 name: enlarged lumbar vertebrae def: "increased size of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MGI:csmith] is_a: MP:0003049 ! abnormal lumbar vertebrae morphology [Term] id: MP:0004708 name: short lumbar vertebrae def: "reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MGI:csmith] is_a: MP:0003049 ! abnormal lumbar vertebrae morphology [Term] id: MP:0004709 name: cervical vertebrae degeneration def: "retrogressive pathologic change of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull" [MESH:A02.835.232.834.151, MGI:csmith] is_a: MP:0003048 ! abnormal cervical vertebrae morphology [Term] id: MP:0004710 name: small notochord def: "reduced size of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [ISBN:0-683-40008-8] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0004711 name: persistence of notochord tissue def: "failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen" [MGI:csmith] synonym: "lack of notochord regression" EXACT [] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0004712 name: notochord degeneration def: "retrogressive pathologic change of the axial fibrocellular cord in embryos around which develops the vertebral primordia (prior to normal differentiation of this tissue into the vertebral column tissues)" [ISBN:0-683-40008-8] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0004713 name: split notochord def: "the appearance of an abnormal division in the axial fibrocellular cord in embryos around which develops the vertebral primordia" [ISBN:0-683-40008-8] synonym: "bifid notochord" EXACT [] synonym: "bifurcated notochord" EXACT [] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0004714 name: truncated notochord def: "notochord morphology that terminates abruptly as if having an end or point cut off" [ISBN:0-683-40008-8] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0004715 name: absent vestibulocochlear nerve def: "absence of the composite sensory nerve innervating the receptor cells of the membranous labyrinth" [MGI:anna] synonym: "absent eighth cranial nerve [CN VIII]" EXACT [] synonym: "absent eighth nerve" EXACT [] synonym: "absent nervus acusticus [CN VIII]" EXACT [] synonym: "absent nervus octavus [CN VIII]" EXACT [] synonym: "absent nervus statoacusticus [CN VIII]" EXACT [] synonym: "absent nervus vestibulocochlearis [CN VIII]" EXACT [] synonym: "absent octavus" EXACT [] synonym: "absent statoacoustic nerve" EXACT [] is_a: MP:0001072 ! abnormal vestibulocochlear nerve morphology [Term] id: MP:0004716 name: abnormal cochlear nerve morphology def: "any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ" [MGI:anna] synonym: "abnormal auditory nerve morphology" EXACT [] synonym: "abnormal cochlear part of vestibulocochlear nerve morphology" EXACT [] synonym: "abnormal inferior part of vestibulocochlear nerve morphology" EXACT [] synonym: "abnormal nervus cochlearis morphology" EXACT [] synonym: "abnormal pars cochlearis nervi vestibulocochlearis morphology" EXACT [] is_a: MP:0001072 ! abnormal vestibulocochlear nerve morphology [Term] id: MP:0004717 name: absent cochlear nerve def: "absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the cochlear root" [MGI:anna] synonym: "absent auditory nerve" EXACT [] synonym: "absent cochlear part of vestibulocochlear nerve" EXACT [] synonym: "absent inferior part of vestibulocochlear nerve" EXACT [] synonym: "absent nervus cochlearis" EXACT [] synonym: "absent pars cochlearis nervi vestibulocochlearis" EXACT [] is_a: MP:0004716 ! abnormal cochlear nerve morphology [Term] id: MP:0004718 name: abnormal vestibular nerve morphology def: "any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion" [MGI:anna] synonym: "abnormal nervus vestibularis morphology" EXACT [] synonym: "abnormal pars vestibularis nervi vestibulocochlearis morphology" EXACT [] synonym: "abnormal superior part of vestibulocochlear nerve morphology" EXACT [] synonym: "abnormal vestibular part of vestibulocochlear nerve morphology" EXACT [] synonym: "abnormal vestibular root of cranial nerve VIII morphology" EXACT [] is_a: MP:0001072 ! abnormal vestibulocochlear nerve morphology [Term] id: MP:0004719 name: absent vestibular nerve def: "absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the vestibular root" [MGI:anna] synonym: "absent nervus vestibularis" EXACT [] synonym: "absent pars vestibularis nervi vestibulocochlearis" EXACT [] synonym: "absent superior part of vestibulocochlear nerve" EXACT [] synonym: "absent vestibular part of vestibulocochlear nerve" EXACT [] synonym: "absent vestibular root of cranial nerve VIII" EXACT [] is_a: MP:0004718 ! abnormal vestibular nerve morphology [Term] id: MP:0004720 name: abnormal platelet morphology def: "any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting" [MESH:A11.118.188] synonym: "abnormal blood platelet morphology" RELATED [MESH:A11.118.188] synonym: "abnormal platelets morphology" EXACT [] synonym: "abnormal thrombocyte morphology" EXACT [MESH:A11.118.188] is_a: MP:0000228 ! abnormal thrombopoiesis [Term] id: MP:0004721 name: abnormal platelet dense granule morphology def: "any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [MGI:llw2] synonym: "abnormal platelet dense body morphology" EXACT [] synonym: "abnormal thrombocyte dense granule morphology" EXACT [] is_a: MP:0004720 ! abnormal platelet morphology [Term] id: MP:0004722 name: abnormal platelet dense granule number def: "altered number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [MGI:llw2] synonym: "abnormal number of platelet dense granules" RELATED [] synonym: "abnormal thrombocyte dense granule number" EXACT [] is_a: MP:0004721 ! abnormal platelet dense granule morphology [Term] id: MP:0004723 name: abnormal platelet serotonin level def: "anomaly in the amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [MESH:D02.092.211.215.801.852] synonym: "abnormal platelet 5-HT level" EXACT [] synonym: "abnormal platelet 5-hydroxytryptamine level" EXACT [] synonym: "abnormal platelet enteramine level" EXACT [] synonym: "abnormal platelet hippophaine level" EXACT [] synonym: "abnormal platelet hydroxytryptamine level" EXACT [] is_a: MP:0004721 ! abnormal platelet dense granule morphology is_a: MP:0005322 ! abnormal serotonin level [Term] id: MP:0004724 name: increased platelet serotonin level def: "greater than normal amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8, MESH:D02.092.211.215.801.852] synonym: "increased platelet 5-HT level" EXACT [] synonym: "increased platelet 5-hydroxytryptamine level" EXACT [] synonym: "increased platelet enteramine level" EXACT [] synonym: "increased platelet hippophaine level" EXACT [] synonym: "increased platelet hydroxytryptamine level" EXACT [] is_a: MP:0004723 ! abnormal platelet serotonin level is_a: MP:0010069 ! increased serotonin level [Term] id: MP:0004725 name: decreased platelet serotonin level def: "reduced amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8, MESH:D02.092.211.215.801.852] synonym: "decreased platelet 5-HT level" EXACT [] synonym: "decreased platelet 5-hydroxytryptamine level" EXACT [] synonym: "decreased platelet enteramine level" EXACT [] synonym: "decreased platelet hippophaine level" EXACT [] synonym: "decreased platelet hydroxytryptamine level" EXACT [] synonym: "reduced platelet serotonin level" EXACT [] is_a: MP:0004723 ! abnormal platelet serotonin level is_a: MP:0010070 ! decreased serotonin level [Term] id: MP:0004726 name: abnormal nasal capsule morphology def: "any structural anomaly in the cartilage around the developing nasal cavity of the embryo" [MGI:anna] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0004727 name: absent epididymis def: "absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens)" [MGI:anna] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0004728 name: abnormal efferent ductules of testis morphology def: "any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis" [MGI:anna] synonym: "abnormal ductuli efferentes testis" EXACT [] synonym: "abnormal efferent duct" EXACT [] synonym: "abnormal vas efferens" EXACT [] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0004729 name: absent efferent ductules of testis def: "absence of the small seminal ducts that lead from the testis to the head of the epididymis" [MGI:anna] synonym: "absent ductuli efferentes testis" EXACT [] synonym: "absent efferent duct" EXACT [] synonym: "absent vas efferens" EXACT [] is_a: MP:0004728 ! abnormal efferent ductules of testis morphology [Term] id: MP:0004730 name: abnormal circulating gastrin level def: "anomalous concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters" [ISBN:0-683-40008-8] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0004731 name: increased circulating gastrin level def: "greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters" [ISBN:0-683-40008-8] synonym: "hypergastremia" EXACT [] is_a: MP:0004730 ! abnormal circulating gastrin level [Term] id: MP:0004732 name: decreased circulating gastrin level def: "reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters" [ISBN:0-683-40008-8] synonym: "reduced circulating gastrin level" EXACT [] is_a: MP:0004730 ! abnormal circulating gastrin level [Term] id: MP:0004733 name: abnormal thoracic cavity morphology def: "any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal rib cavity" EXACT [] is_a: MP:0004134 ! abnormal chest morphology [Term] id: MP:0004734 name: small thoracic cavity def: "reduced size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway" [MGI:csmith] is_a: MP:0004733 ! abnormal thoracic cavity morphology [Term] id: MP:0004735 name: enlarged thoracic cavity def: "increased size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway" [MGI:csmith] is_a: MP:0004733 ! abnormal thoracic cavity morphology [Term] id: MP:0004736 name: abnormal distortion product otoacoustic emission def: "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http\://www.emedicine.com/ent/topic372.htm, MGI:anna, MGI:csmith] synonym: "abnormal DPOAE(s)" EXACT [] is_a: MP:0006336 ! abnormal otoacoustic response [Term] id: MP:0004737 name: absent distortion product otoacoustic emissions def: "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna] synonym: "absent DPOAEs" EXACT [] is_a: MP:0004736 ! abnormal distortion product otoacoustic emission [Term] id: MP:0004738 name: abnormal brainstem auditory evoked potential def: "anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna, MGI:smb] subset: Sanger_Terms synonym: "abnormal ABRs" EXACT [] synonym: "abnormal BAEP(s)" EXACT [] synonym: "abnormal brainstem auditory brainstem response(s)" EXACT [] synonym: "abnormal brainstem evoked responses" EXACT [] is_a: MP:0006335 ! abnormal hearing electrophysiology [Term] id: MP:0004739 name: conductive hearing loss alt_id: MP:0004291 def: "progressive hearing loss due to lesions in the external auditory canal or middle ear" [MGI:anna] synonym: "abnormal middle-ear sound conduction" EXACT [] is_a: MP:0006326 ! conductive hearing impairment [Term] id: MP:0004740 name: sensorineural hearing loss def: "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna] is_a: MP:0006329 ! sensorineural hearing impairment [Term] id: MP:0004741 name: mixed hearing loss def: "progressive reduction in the ability to hear resulting from a combination of conductive and sensorineural hearing loss" [MGI:anna] is_a: MP:0006327 ! mixed hearing impairment [Term] id: MP:0004742 name: abnormal vestibular system physiology def: "any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may include impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head" [MGI:csmith] synonym: "abnormal equilibrium" EXACT [] is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0004743 name: abnormal vestibular evoked myogenic potential def: "anomaly in the biphasic response elicited by loud clicks or tone bursts recorded from the tonically contracted sternocleidomastoid muscle; normally, acoustic stimulation of the saccule gives rise to a vestibulocollic reflex, the output of which can be measured in the neck as inhibition of activity in the ipsilateral sternocleidomastoid muscle; VEMP testing provides diagnostic information about saccular and/or inferior vestibular nerve function (assessment of balance disorders)" [MGI:anna] synonym: "abnormal VEMP(s)" EXACT [] is_a: MP:0004742 ! abnormal vestibular system physiology [Term] id: MP:0004744 name: reduced vestibular evoked myogenic potential def: "reduction of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle" [MGI:anna] is_a: MP:0004743 ! abnormal vestibular evoked myogenic potential [Term] id: MP:0004745 name: absent vestibular evoked myogenic potential def: "absence of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle" [MGI:anna] is_a: MP:0004743 ! abnormal vestibular evoked myogenic potential [Term] id: MP:0004746 name: abnormal cochlear IHC afferent innervation pattern def: "any changes in the placement, morphology or number of afferent terminals and/or their synapses in the cochlear IHC region" [MGI:anna] is_a: MP:0000968 ! abnormal sensory neuron innervation pattern is_a: MP:0004393 ! abnormal cochlear inner hair cell morphology [Term] id: MP:0004747 name: abnormal cochlear OHC afferent innervation pattern def: "any changes in the morphology, placement or number of afferent terminals and/or their synapses in the cochlear OHC region" [MGI:anna] is_a: MP:0000968 ! abnormal sensory neuron innervation pattern is_a: MP:0004399 ! abnormal cochlear outer hair cell morphology [Term] id: MP:0004748 name: increased susceptibility to age-related hearing loss def: "greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary" [MGI:anna] synonym: "decreased resistance to age-related hearing loss" EXACT [] synonym: "decreased resistance to presbyacousia" EXACT [] synonym: "decreased resistance to presbyacusis" EXACT [] synonym: "decreased resistance to presbycusis" EXACT [] synonym: "increased susceptibility to presbyacousia" EXACT [] synonym: "increased susceptibility to presbyacusis" EXACT [] synonym: "increased susceptibility to presbycusis" EXACT [] is_a: MP:0006334 ! abnormal susceptibility to hearing loss [Term] id: MP:0004749 name: nonsyndromic hearing loss def: "a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear" [MGI:anna] is_a: MP:0006328 ! nonsyndromic hearing impairment [Term] id: MP:0004750 name: syndromic hearing loss def: "a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms" [MGI:anna] is_a: MP:0006330 ! syndromic hearing impairment [Term] id: MP:0004751 name: increased length of allograft survival def: "compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive" [MGI:csmith] is_a: MP:0005671 ! abnormal response to transplant [Term] id: MP:0004752 name: decreased length of allograft survival def: "compared to controls, a reduced length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive" [MGI:csmith] synonym: "reduced length of allograft survival" EXACT [] is_a: MP:0005671 ! abnormal response to transplant [Term] id: MP:0004753 name: abnormal miniature excitatory postsynaptic currents def: "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb] synonym: "abnormal mEPSCs" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0004754 name: abnormal kidney collecting duct morphology def: "any structural anomaly of the duct that drains fluid from the nephron and either allows bodily reabsorbtion of water or allows the fluid to drain to the bladder via the ureter; the collecting duct system also maintains acid-base homeostasis" [MGI:csmith] synonym: "abnormal collecting tubule morphology" EXACT [] synonym: "abnormal kidney collecting tube morphology" EXACT [] synonym: "abnormal kidney collecting tubule morphology" EXACT [] synonym: "abnormal renal collecting duct morphology" EXACT [] synonym: "abnormal renal collecting tube morphology" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0004755 name: abnormal loop of Henle morphology def: "any structural anomaly of the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine" [MGI:csmith] synonym: "abnormal ansa nephroni morphology" EXACT [] synonym: "abnormal Henle's loop morphology" RELATED [] synonym: "abnormal limb of Henle" EXACT [] synonym: "abnormal nephron loop morphology" RELATED [] xref: MA:0001675 is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0004756 name: abnormal proximal convoluted tubule morphology def: "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule" [MGI:csmith] synonym: "abnormal proximal kidney tubule" EXACT [] synonym: "abnormal proximal renal tubule" EXACT [] synonym: "abnormal proximal tubule" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0004757 name: abnormal distal convoluted tubule morphology def: "any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system" [MGI:csmith] is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0004758 name: absent strial marginal cells def: "absence or loss of the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph" [MGI:anna] is_a: MP:0004366 ! abnormal strial marginal cell morphology [Term] id: MP:0004759 name: decreased mitotic index def: "decreased number of cells in G2/M phase" [Bertram_Weiss:Bayer_Schering_Pharma_AG] synonym: "reduced mitotic index" EXACT [] is_a: MP:0004046 ! abnormal mitosis [Term] id: MP:0004760 name: increased mitotic index def: "increased number of cells in G2/M phase" [Bertram_Weiss:Bayer_Schering_Pharma_AG] is_a: MP:0004046 ! abnormal mitosis [Term] id: MP:0004761 name: increased susceptibility to induced pancreatitis def: "more likely than normal to develop an inflammatory response, or an increased inflammatory response in the pancreatic tissue after experimental manipulation" [MGI:csmith, MGI:hdene] synonym: "decreased resistance to induced pancreatitis" EXACT [] is_a: MP:0001869 ! pancreas inflammation [Term] id: MP:0004762 name: increased anti-double stranded DNA antibody level def: "increase in the level of antibodies that recognize double stranded DNA" [MGI:smb] synonym: "increased dsDNA antibody level" EXACT [] is_a: MP:0004794 ! increased anti-nuclear antigen antibody level [Term] id: MP:0004763 name: absent brainstem auditory evoked potential def: "absence of the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude" [MGI:anna] synonym: "absent ABRs" EXACT [] synonym: "absent BAEP(s)" EXACT [] synonym: "absent brainstem auditory brainstem response(s)" EXACT [] synonym: "absent brainstem evoked responses" EXACT [] is_a: MP:0004738 ! abnormal brainstem auditory evoked potential [Term] id: MP:0004764 name: increased brainstem auditory evoked potential def: "greater synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; decreases in auditory thresholds required to generate a response may indicate a increased potential" [MGI:anna] synonym: "decreased ABR threshold" NARROW [] synonym: "increased ABR amplitude" NARROW [] synonym: "increased ABRs" EXACT [] synonym: "increased BAEP(s)" EXACT [] synonym: "increased brainstem auditory brainstem response(s)" EXACT [] synonym: "increased brainstem evoked responses" EXACT [] is_a: MP:0004738 ! abnormal brainstem auditory evoked potential [Term] id: MP:0004765 name: decreased brainstem auditory evoked potential def: "reduction in the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; increases in auditory thresholds required to generate a response may indicate a decreased potential" [MGI:anna] synonym: "decreased ABR amplitude" NARROW [] synonym: "decreased ABRs" EXACT [] synonym: "decreased BAEP(s)" EXACT [] synonym: "decreased brainstem auditory brainstem response(s)" EXACT [] synonym: "decreased brainstem evoked responses" EXACT [] synonym: "increased ABR threshold" NARROW [] synonym: "reduced ABRs" EXACT [] synonym: "reduced BAEP(s)" EXACT [] synonym: "reduced brainstem auditory evoked potential" EXACT [] is_a: MP:0004738 ! abnormal brainstem auditory evoked potential [Term] id: MP:0004766 name: decreased susceptibility to age-related hearing loss def: "less than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary" [MGI:anna] synonym: "increased resistance to age-related hearing loss" EXACT [] is_a: MP:0006334 ! abnormal susceptibility to hearing loss [Term] id: MP:0004767 name: increased cochlear nerve compound action potential def: "greater combined potentials resulting from activation of the auditory division of the eighth cranial nerve" [MGI:anna] synonym: "increased auditory nerve compound action potential" RELATED [] is_a: MP:0004415 ! abnormal cochlear nerve compound action potential [Term] id: MP:0004768 name: abnormal axonal transport def: "any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons" [MGI:csmith] is_a: MP:0004811 ! abnormal neuron physiology [Term] id: MP:0004769 name: abnormal synaptic vesicle morphology def: "any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith] synonym: "abnormal neurotransmitter vesicle" EXACT [] is_a: MP:0009538 ! abnormal synapse morphology [Term] id: MP:0004770 name: abnormal synaptic vesicle recycling def: "any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles" [MGI:csmith] is_a: MP:0004811 ! abnormal neuron physiology [Term] id: MP:0004771 name: increased anti-single stranded DNA antibody level def: "increase in the level of antibodies that recognize single stranded DNA" [MGI:csmith] synonym: "increased anti-ssDNA antibody level" EXACT [] is_a: MP:0004794 ! increased anti-nuclear antigen antibody level [Term] id: MP:0004772 name: abnormal bile secretion def: "any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time" [MGI:csmith] is_a: MP:0003252 ! abnormal bile duct physiology is_a: MP:0005085 ! abnormal gallbladder physiology [Term] id: MP:0004773 name: abnormal bile composition def: "any alteration in the chemical make up of the greenish-yellow fluid secreted by the liver; normally contains bile acids and salts such as sodium glycocholate and sodium taurocholate as well as cholesterol, biliverdin and bilirubin, mucus, fat, lecithin, and cells and cellular debris" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0005085 ! abnormal gallbladder physiology [Term] id: MP:0004774 name: abnormal bile salt level alt_id: MP:0005086 def: "anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:csmith] synonym: "abnormal bile acid level" RELATED [] synonym: "abnormal bile amount" EXACT [] synonym: "abnormal bile volume" NARROW [] is_a: MP:0001547 ! abnormal lipid level is_a: MP:0005365 ! abnormal bile salt homeostasis [Term] id: MP:0004775 name: abnormal vestibular dark cell morphology def: "any structural anomaly in the nonsensory epithelial cells located above the vestibular melanocytes and adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals; these cells provide and maintain the high potassium ionic environment within the vestibular labyrinth and are therefore homologous to the marginal cells of the stria vascularis; they are joined to each other by tight junctions and provide a barrier between endolymph and perilymph" [MGI:anna] is_a: MP:0000034 ! abnormal vestibule morphology [Term] id: MP:0004776 name: vestibular dark cell degeneration def: "degeneration or loss of the nonsensory epithelial cells that lie adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals" [MGI:anna] is_a: MP:0004775 ! abnormal vestibular dark cell morphology [Term] id: MP:0004777 name: abnormal phospholipid level def: "anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:csmith, MGI:smb] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0004778 name: increased macrophage derived foam cell number def: "greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions" [CL:0000517] synonym: "increased foam cell number" BROAD [] synonym: "increased number of foam cells" BROAD [] xref: CL:0000517 is_a: MP:0005425 ! increased macrophage cell number is_a: MP:0008243 ! abnormal macrophage derived foam cell morphology is_a: MP:0009841 ! foam cell reticulosis [Term] id: MP:0004779 name: abnormal production of surfactant def: "anomaly in the production of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith] is_a: MP:0004782 ! abnormal surfactant physiology [Term] id: MP:0004780 name: abnormal surfactant secretion def: "anomaly in the release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith] is_a: MP:0004782 ! abnormal surfactant physiology [Term] id: MP:0004781 name: abnormal surfactant composition def: "anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith] is_a: MP:0004782 ! abnormal surfactant physiology [Term] id: MP:0004782 name: abnormal surfactant physiology def: "anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith] is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0004783 name: abnormal cardinal vein morphology def: "any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column" [MGI:csmith] is_a: MP:0000259 ! abnormal vascular development is_a: MP:0003411 ! abnormal vein development [Term] id: MP:0004784 name: abnormal anterior cardinal vein morphology def: "any structural anomaly of the two paired veins draining the cephalic part of the body" [ISBN:0-683-40008-8] is_a: MP:0004783 ! abnormal cardinal vein morphology [Term] id: MP:0004785 name: abnormal posterior cardinal vein morphology def: "any structural anomaly of the two paired veins draining the caudal part of the body" [ISBN:0-683-40008-8] is_a: MP:0004783 ! abnormal cardinal vein morphology [Term] id: MP:0004786 name: abnormal common cardinal vein morphology def: "any structural anomaly of the anastomosis of the anterior and posterior cardinal veins that returns blood to the developing heart" [ISBN:0-683-40008-8] synonym: "abnormal Cuvier duct morphology" EXACT [] synonym: "abnormal duct of Cuvier" EXACT [] is_a: MP:0004783 ! abnormal cardinal vein morphology [Term] id: MP:0004787 name: abnormal dorsal aorta morphology def: "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3] synonym: "abnormal embryonic dorsal aorta morphology" EXACT [] is_a: MP:0000259 ! abnormal vascular development is_a: MP:0003410 ! abnormal artery development [Term] id: MP:0004788 name: abnormal auditory cortex tonotopy def: "any abnormality in the spatial arrangement of structures that subserve various frequencies in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body" [MGI:anna] is_a: MP:0004631 ! abnormal auditory cortex morphology [Term] id: MP:0004789 name: increased bile salt level def: "increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:csmith] synonym: "increased bile acid level" EXACT [] is_a: MP:0004774 ! abnormal bile salt level [Term] id: MP:0004790 name: absent upper incisors def: "absence of the upper pair of long teeth that are the most anterior and prominent in the jaw" [MGI:smb] is_a: MP:0000125 ! absent incisors [Term] id: MP:0004791 name: absent lower incisors def: "missing the lower pair of long teeth that are the most anterior and prominent in the jaw" [MGI:smb] is_a: MP:0000125 ! absent incisors [Term] id: MP:0004792 name: abnormal synaptic vesicle number def: "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith] is_a: MP:0004769 ! abnormal synaptic vesicle morphology [Term] id: MP:0004793 name: abnormal synaptic vesicle clustering def: "any functional anomaly in the process of accumulation of synaptic vesicles at the active zone of presynaptic membranes" [MGI:csmith] is_a: MP:0004811 ! abnormal neuron physiology [Term] id: MP:0004794 name: increased anti-nuclear antigen antibody level def: "elevated level of antibodies to nuclear antigens present in the sera" [MGI:csmith] synonym: "increased ANA level" EXACT [] is_a: MP:0003725 ! increased autoantibody level [Term] id: MP:0004795 name: decreased anti-nuclear antigen antibody level def: "reduced level of antibodies to nuclear antigens present in the sera" [MGI:csmith] synonym: "reduced anti-nuclear antigen antibody level" EXACT [] is_a: MP:0003726 ! decreased autoantibody level [Term] id: MP:0004796 name: increased anti-histone antibody level def: "elevated level of antibodies to histones present in the sera" [MGI:csmith] is_a: MP:0004794 ! increased anti-nuclear antigen antibody level [Term] id: MP:0004797 name: increased anti-erythrocyte antigen antibody level def: "elevated level of antibodies to erythrocyte antigen present in the sera" [MGI:csmith] synonym: "increased anti-RBC antibody level" EXACT [] is_a: MP:0003725 ! increased autoantibody level [Term] id: MP:0004798 name: decreased anti-double stranded DNA antibody level def: "reduced level of antibodies to double stranded DNA present in the sera" [MGI:csmith] synonym: "reduced anti-double stranded DNA antibody level" EXACT [] is_a: MP:0004795 ! decreased anti-nuclear antigen antibody level [Term] id: MP:0004799 name: increased susceptibility to experimental autoimmune encephalomyelitis def: "greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG)" [MGI:csmith] synonym: "decreased resistance to EAE" EXACT [] synonym: "decreased resistance to experimental allergic encephalitis" EXACT [] synonym: "decreased resistance to experimental allergic encephalomyelitis" EXACT [] synonym: "decreased resistance to experimental autoimmune encephalomyelitis" EXACT [] synonym: "increased susceptibility to EAE" EXACT [] synonym: "increased susceptibility to experimental allergic encephalitis" EXACT [] synonym: "increased susceptibility to experimental allergic encephalomyelitis" EXACT [] is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004800 name: decreased susceptibility to experimental autoimmune encephalomyelitis def: "reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG)" [MGI:csmith] synonym: "decreased susceptibility to EAE" EXACT [] synonym: "decreased susceptibility to experimental allergic encephalitis" EXACT [] synonym: "decreased susceptibility to experimental allergic encephalomyelitis" EXACT [] synonym: "increased resistance to EAE" EXACT [] synonym: "increased resistance to experimental allergic encephalitis" EXACT [] synonym: "increased resistance to experimental allergic encephalomyelitis" EXACT [] synonym: "increased resistance to experimental autoimmune encephalomyelitis" EXACT [] synonym: "reduced susceptibility to experimental autoimmune encephalomyelitis" EXACT [] is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004801 name: increased susceptibility to systemic lupus erythematosus def: "greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs" [MGI:csmith] synonym: "decreased resistance to lupus" EXACT [] synonym: "decreased resistance to SLE" EXACT [] synonym: "decreased resistance to systemic lupus erythematosus" EXACT [] synonym: "increased susceptibility to lupus" EXACT [] synonym: "increased susceptibility to SLE" EXACT [] is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004802 name: decreased susceptibility to systemic lupus erythematosus def: "reduced likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs" [MGI:csmith] synonym: "decreased susceptibility to lupus" EXACT [] synonym: "decreased susceptibility to SLE" EXACT [] synonym: "increased resistance to lupus" EXACT [] synonym: "increased resistance to SLE" EXACT [] synonym: "increased resistance to systemic lupus erythematosus" EXACT [] synonym: "reduced susceptibility to systemic lupus erythematosus" EXACT [] is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004803 name: increased susceptibility to autoimmune diabetes def: "greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas" [MGI:csmith] synonym: "decreased resistance to autoimmune diabetes" EXACT [] is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004804 name: decreased susceptibility to autoimmune diabetes def: "reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas" [MGI:csmith] synonym: "increased resistance to autoimmune diabetes" EXACT [] synonym: "reduced susceptibility to autoimmune diabetes" EXACT [] is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004805 name: absent oocytes def: "absence of mature germ cells in the female" [MGI:csmith] is_a: MP:0001117 ! absent gametes is_a: MP:0005431 ! decreased oocyte number [Term] id: MP:0004806 name: absent germ cells def: "absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [ISBN:0-683-40008-8] is_a: MP:0002209 ! decreased germ cell number [Term] id: MP:0004807 name: abnormal paired-pulse inhibition def: "defects in the suppressive response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of inhibition of neurotransmitter release at the second stimulus" [MGI:csmith] synonym: "abnormal paired pulse depression" EXACT [] synonym: "abnormal paired pulse inhibition" EXACT [] synonym: "abnormal PPI" BROAD [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0004808 name: abnormal hematopoietic stem cell morphology def: "any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith] synonym: "abnormal hematopoietic progenitor cell morphology" EXACT [] synonym: "abnormal hemopoietic progenitor cell morphology" EXACT [] synonym: "abnormal HSCs" RELATED [] synonym: "abnormal LSK cell morphology" NARROW [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development [Term] id: MP:0004809 name: increased hematopoietic stem cell number def: "greater cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith] synonym: "increased hematopoietic progenitor cell number" EXACT [] synonym: "increased hemopoietic progenitor cell number" EXACT [] synonym: "increased HSCs" EXACT [] synonym: "increased LSK cell number" NARROW [] synonym: "increased number of hematopoietic stem cells" EXACT [] is_a: MP:0004808 ! abnormal hematopoietic stem cell morphology [Term] id: MP:0004810 name: decreased hematopoietic stem cell number def: "reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith] synonym: "decreased hematopoietic progenitor cell number" EXACT [] synonym: "decreased hemopoietic progenitor cell number" EXACT [] synonym: "decreased HSCs" EXACT [] synonym: "decreased LSK cell number" NARROW [] synonym: "decreased number of hematopoietic stem cells" RELATED [] synonym: "reduced hematopoietic stem cell number" EXACT [] is_a: MP:0004808 ! abnormal hematopoietic stem cell morphology [Term] id: MP:0004811 name: abnormal neuron physiology def: "any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0004812 name: abnormal linear vestibular evoked potential def: "anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear" [MGI:csmith] synonym: "abnormal linear vestibular compound action potentials" EXACT [] synonym: "abnormal VeSPs" EXACT [] is_a: MP:0004742 ! abnormal vestibular system physiology [Term] id: MP:0004813 name: absent linear vestibular evoked potential def: "absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head)" [MGI:csmith] is_a: MP:0004812 ! abnormal linear vestibular evoked potential [Term] id: MP:0004814 name: reduced linear vestibular evoked potential def: "reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head)" [MGI:csmith] is_a: MP:0004812 ! abnormal linear vestibular evoked potential [Term] id: MP:0004815 name: abnormal somatic hypermutation frequency def: "any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells" [MGI:csmith] synonym: "abnormal SHM" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation is_a: MP:0002420 ! abnormal adaptive immunity [Term] id: MP:0004816 name: abnormal class switch recombination def: "anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions" [MGI:csmith] synonym: "abnormal CSR" EXACT [] synonym: "abnormal isotype switching" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0004817 name: abnormal skeletal muscle mass def: "anomaly in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0004818 name: increased skeletal muscle mass def: "increase in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith] is_a: MP:0004817 ! abnormal skeletal muscle mass [Term] id: MP:0004819 name: decreased skeletal muscle mass def: "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith] synonym: "reduced skeletal muscle mass" EXACT [] is_a: MP:0004817 ! abnormal skeletal muscle mass [Term] id: MP:0004820 name: abnormal urine potassium level alt_id: MP:0006311 def: "any change in the amount of potassium in the urine" [MGI:csmith] synonym: "abnormal kidney potassium excretion" EXACT [] synonym: "abnormal renal potassium secretion" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0004821 name: increased susceptibility to experimental autoimmune uveoretinitis def: "greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens" [MGI:csmith] synonym: "decreased resistance to EAU" EXACT [] synonym: "decreased resistance to experimental autoimmune uveitis" EXACT [] synonym: "decreased resistance to experimental autoimmune uveoretinitis" EXACT [] synonym: "increased susceptibility to EAU" EXACT [] synonym: "increased susceptibility to experimental autoimmune uveitis" EXACT [] is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004822 name: decreased susceptibility to experimental autoimmune uveoretinitis def: "reduced likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens" [MGI:csmith] synonym: "decreased susceptibility to EAU" EXACT [] synonym: "decreased susceptibility to experimental autoimmune uveitis" EXACT [] synonym: "increased resistance to EAU" EXACT [] synonym: "increased resistance to experimental autoimmune uveitis" EXACT [] synonym: "increased resistance to experimental autoimmune uveoretinitis" EXACT [] synonym: "reduced susceptibility to experimental autoimmune uveoretinitis" RELATED [] is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004823 name: increased susceptibility to experimental autoimmune myasthenia gravis def: "greater likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits" [MGI:csmith] synonym: "decreased resistance to EAMG" EXACT [] synonym: "decreased resistance to experimental autoimmune myasthenia gravis" EXACT [] synonym: "increased susceptibility to EAMG" EXACT [] is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004824 name: decreased susceptibility to experimental autoimmune myasthenia gravis def: "reduced likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits" [MGI:csmith] synonym: "decreased susceptibility to EAMG" EXACT [] synonym: "increased resistance to EAMG" EXACT [] synonym: "increased resistance to experimental autoimmune myasthenia gravis" EXACT [] synonym: "reduced susceptibility to experimental autoimmune myasthenia gravis" EXACT [] is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004825 name: increased susceptibility to experimental autoimmune thyroiditis def: "greater likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin" [MGI:csmith] synonym: "decreased resistance to EAT" EXACT [] synonym: "decreased resistance to experimental autoimmune thyroiditis" EXACT [] synonym: "increased susceptibility to EAT" EXACT [] is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004826 name: decreased susceptibility to experimental autoimmune thyroiditis def: "reduced likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin" [MGI:csmith] synonym: "decreased susceptibility to EAT" EXACT [] synonym: "increased resistance to EAT" EXACT [] synonym: "increased resistance to experimental autoimmune thyroiditis" EXACT [] synonym: "reduced susceptibility to experimental autoimmune thyroiditis" EXACT [] is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004827 name: increased susceptibility to autoimmune hemolytic anemia def: "greater likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely" [MGI:csmith] synonym: "decreased resistance to autoimmune hemolytic anemia" EXACT [] synonym: "decreased resistance to idiopathic autoimmune hemolytic anemia (AIHA)" EXACT [] synonym: "decreased resistance to immune mediated hemolytic anemia (IMHA)" EXACT [] synonym: "increased susceptibility to idiopathic autoimmune hemolytic anemia (AIHA)" EXACT [] synonym: "increased susceptibility to immune mediated hemolytic anemia (IMHA)" EXACT [] is_a: MP:0001585 ! hemolytic anemia is_a: MP:0005350 ! increased susceptibility to autoimmune disorder [Term] id: MP:0004828 name: decreased susceptibility to autoimmune hemolytic anemia def: "reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely" [MGI:csmith] synonym: "decreased susceptibility to idiopathic autoimmune hemolytic anemia (AIHA)" EXACT [] synonym: "decreased susceptibility to immune mediated hemolytic anemia (IMHA)" EXACT [] synonym: "increased resistance to autoimmune hemolytic anemia" EXACT [] synonym: "increased resistance to idiopathic autoimmune hemolytic anemia (AIHA)" EXACT [] synonym: "increased resistance to immune mediated hemolytic anemia (IMHA)" EXACT [] synonym: "reduced susceptibility to autoimmune hemolytic anemia" EXACT [] is_a: MP:0001585 ! hemolytic anemia is_a: MP:0005351 ! decreased susceptibility to autoimmune disorder [Term] id: MP:0004829 name: increased anti-chromatin antibody level def: "increase in the level of antibodies that recognize chromatin" [MGI:csmith] is_a: MP:0004794 ! increased anti-nuclear antigen antibody level [Term] id: MP:0004830 name: short incisors def: "reduced length of the set of long teeth that are the most anterior and prominent in the jaw" [MGI:csmith, MGI:llw2] subset: Sanger_Terms is_a: MP:0005358 ! abnormal incisor morphology [Term] id: MP:0004831 name: long incisors def: "increased length of the set of long teeth that are the most anterior and prominent in the jaw" [MGI:csmith, MGI:llw2] subset: Sanger_Terms synonym: "overgrown incisors" EXACT [] is_a: MP:0005358 ! abnormal incisor morphology [Term] id: MP:0004832 name: enlarged ovary def: "increased size of the female reproductive gland containing the germ cells" [MGI:csmith] synonym: "increased ovary size" EXACT [] is_a: MP:0004853 ! abnormal ovary size [Term] id: MP:0004833 name: ovary atrophy def: "acquired diminution of the size of the ovaries associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "ovarian atrophy" EXACT [] is_a: MP:0001127 ! small ovary [Term] id: MP:0004834 name: ovary hemorrhage def: "presence of bleeding in the ovary" [MGI:csmith] synonym: "ovarian hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0003507 ! abnormal ovary physiology is_a: MP:0004245 ! genital hemorrhage [Term] id: MP:0004835 name: abnormal miniature endplate potential def: "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith] synonym: "abnormal mEPP" EXACT [] synonym: "abnormal miniature end plate potential" EXACT [] is_a: MP:0002913 ! abnormal PNS synaptic transmission [Term] id: MP:0004836 name: abnormal synaptic acetylcholine release def: "aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system" [MGI:csmith] synonym: "abnormal AcH release" EXACT [] is_a: MP:0005445 ! abnormal neurotransmitter secretion [Term] id: MP:0004837 name: abnormal neural fold formation def: "any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove" [MGI:csmith] synonym: "abnormal neural groove formation" EXACT [] is_a: MP:0011256 ! abnormal neural fold morphology [Term] id: MP:0004838 name: abnormal neural fold elevation formation def: "any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm" [MGI:csmith] is_a: MP:0004837 ! abnormal neural fold formation [Term] id: MP:0004839 name: bile duct hyperplasia def: "overdevelopment or increased size of the bile ducts, usually due to an increase in the number of cells" [MGI:csmith] is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0004840 name: increased Deiters cell number def: "increased number of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna] synonym: "extra Deiters cells" EXACT [] synonym: "extra row(s) of Deiters cells" EXACT [] synonym: "supernumerary Deiters cells" EXACT [] is_a: MP:0004302 ! abnormal Deiters cell morphology [Term] id: MP:0004841 name: abnormal small intestine crypts of Lieberkuhn morphology def: "any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the small intestine" [ISBN:0-683-40008-8] is_a: MP:0000490 ! abnormal crypts of Lieberkuhn morphology is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0004842 name: abnormal large intestine crypts of Lieberkuhn morphology def: "any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine" [ISBN:0-683-40008-8] is_a: MP:0000489 ! abnormal large intestine morphology is_a: MP:0000490 ! abnormal crypts of Lieberkuhn morphology [Term] id: MP:0004843 name: abnormal Paneth cell morphology def: "any structural anomaly of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine" [MGI:smb] synonym: "abnormal Davidoff cell morphology" EXACT [] synonym: "abnormal Paneth granule cell morphology" EXACT [] is_a: MP:0004841 ! abnormal small intestine crypts of Lieberkuhn morphology [Term] id: MP:0004844 name: abnormal vestibuloocular reflex alt_id: MP:0001477 alt_id: MP:0001992 def: "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system in which impulses are conveyed from the semicircular canals and the otolithic membrane to the oculomotor nerve; this stimulation may occur by angular acceleration or deceleration or by irrigation of the ear with hot or cold water; normally, this reflex functions to maintain a stable retinal image during head rotation by generating appropriate compensatory eye movements" [MGI:csmith] synonym: "abnormal eye reflex" EXACT [] synonym: "abnormal nystagmus" EXACT [] synonym: "abnormal ocular reflex" EXACT [] synonym: "abnormal vestibulo ocular reflex" EXACT [] synonym: "abnormal VOR" EXACT [] is_a: MP:0001961 ! abnormal reflex is_a: MP:0004742 ! abnormal vestibular system physiology [Term] id: MP:0004845 name: absent vestibuloocular reflex def: "absence of nystagmus or deviation of the eyes in response to stimulation of the vestibular system" [MGI:csmith] is_a: MP:0004844 ! abnormal vestibuloocular reflex [Term] id: MP:0004846 name: absent skeletal muscle def: "absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body" [ISBN:0-683-40008-8] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0004847 name: abnormal liver weight def: "anomaly in the average weight of the bile-secreting exocrine gland" [MGI:csmith] synonym: "abnormal hepatic weight" EXACT [] is_a: MP:0004848 ! abnormal liver size [Term] id: MP:0004848 name: abnormal liver size def: "anomaly in the average size of the liver" [MGI:csmith] synonym: "abnormal hepatic size" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0004849 name: abnormal testis size def: "anomaly in the size of the male reproductive glands" [MGI:csmith] subset: Europhenome_Terms synonym: "abnormal testes size" EXACT [] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0004850 name: abnormal testis weight def: "anomaly in the average weight of the male reproductive glands" [MGI:csmith] synonym: "abnormal testes weight" EXACT [] is_a: MP:0004849 ! abnormal testis size [Term] id: MP:0004851 name: increased testis weight def: "greater average weight of the male reproductive glands" [MGI:csmith] is_a: MP:0001148 ! enlarged testis is_a: MP:0004850 ! abnormal testis weight [Term] id: MP:0004852 name: decreased testis weight def: "reduced average weight of the male reproductive glands" [MGI:csmith] synonym: "reduced testis weight" EXACT [] is_a: MP:0001147 ! small testis is_a: MP:0004850 ! abnormal testis weight [Term] id: MP:0004853 name: abnormal ovary size def: "anomaly in the average size of the female reproductive gland containing the germ cells" [MGI:csmith] is_a: MP:0001126 ! abnormal ovary morphology [Term] id: MP:0004854 name: abnormal ovary weight def: "anomaly in the average weight of the female reproductive gland containing the germ cells" [MGI:csmith] is_a: MP:0004853 ! abnormal ovary size [Term] id: MP:0004855 name: increased ovary weight def: "greater average weight of the female reproductive gland containing the germ cells" [MGI:csmith] is_a: MP:0004832 ! enlarged ovary is_a: MP:0004854 ! abnormal ovary weight [Term] id: MP:0004856 name: decreased ovary weight def: "reduction in the average weight of the female reproductive gland containing the germ cells" [MGI:csmith] synonym: "reduced ovary weight" EXACT [] is_a: MP:0001127 ! small ovary is_a: MP:0004854 ! abnormal ovary weight [Term] id: MP:0004857 name: abnormal heart weight def: "anomaly in the average weight of the heart compared to controls" [MGI:csmith] is_a: MP:0005406 ! abnormal heart size [Term] id: MP:0004858 name: abnormal nervous system regeneration def: "changes in the ability or inability of healthy nervous system tissue to regenerate following injury or disease" [ISBN:0-683-40008-8] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0004859 name: abnormal synaptic plasticity def: "anomaly in the ability of a synapse to change its strength as a result of successive activations" [ISBN:0838580343, MGI:csmith] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0004860 name: dilated kidney collecting duct def: "stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith] synonym: "collecting tubule dilation" EXACT [] synonym: "dilated collecting tubule" EXACT [] synonym: "dilated kidney collecting tube" EXACT [] synonym: "dilated kidney collecting tubule" RELATED [] synonym: "dilated renal collecting duct" EXACT [] synonym: "dilated renal collecting tube" EXACT [] synonym: "dilated renal collecting tubules" EXACT [] synonym: "kidney collecting duct dilation" RELATED [] is_a: MP:0004754 ! abnormal kidney collecting duct morphology [Term] id: MP:0004861 name: abnormal Raphe nucleus morphology def: "any structural anomaly of the subgroup of the reticular nuclei of the brain stem that are located in and along the median plane of the medulla oblongata, pons, and mesencephalon that include neurons that synthesize serotonin and extend ascending fibers to parts of the limbic system and descending fibers to other brain stem nuclei, the medulla oblongata, and the pons" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal median column reticular nuclei" EXACT [] synonym: "abnormal Raphe nuclei" EXACT [] is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0004862 name: small scala tympani def: "volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina" [MGI:anna] synonym: "reduced scala tympani" EXACT [] is_a: MP:0003167 ! abnormal scala tympani morphology [Term] id: MP:0004863 name: thin spiral ligament def: "reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches" [MGI:anna] is_a: MP:0004288 ! abnormal spiral ligament morphology [Term] id: MP:0004864 name: spiral ligament degeneration def: "degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches" [MGI:anna] is_a: MP:0000032 ! cochlear degeneration is_a: MP:0004288 ! abnormal spiral ligament morphology [Term] id: MP:0004865 name: abnormal platelet calcium level def: "anomaly in the amount in the platelet of calcium" [RGD:cur] is_a: MP:0004231 ! abnormal calcium ion homeostasis is_a: MP:0004721 ! abnormal platelet dense granule morphology [Term] id: MP:0004866 name: increased platelet calcium level def: "increased concentration in the platelet of calcium" [RGD:cur] is_a: MP:0004865 ! abnormal platelet calcium level [Term] id: MP:0004867 name: decreased platelet calcium level def: "decreased concentration in the platelet of calcium" [RGD:cur] synonym: "reduced platelet calcium level" EXACT [] is_a: MP:0004865 ! abnormal platelet calcium level [Term] id: MP:0004868 name: endometrial carcinoma def: "malignant neoplasm arising from the endometrial tissue" [RGD:cur] is_a: MP:0002038 ! carcinoma is_a: MP:0009222 ! uterus tumor [Term] id: MP:0004869 name: frontal bone hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the bone which forms the forehead and roof of the eye orbit" [MGI:anna] synonym: "hypoplastic frontal bone" EXACT [] is_a: MP:0004377 ! small frontal bone [Term] id: MP:0004870 name: small premaxilla def: "reduced size of the anterior and interior portion of the maxilla" [MGI:anna] is_a: MP:0002820 ! abnormal premaxilla morphology [Term] id: MP:0004871 name: premaxilla hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior and interior portion of the maxilla" [MGI:anna] is_a: MP:0004870 ! small premaxilla [Term] id: MP:0004872 name: absent nasal septum def: "absence of the structure that separates the two nasal cavities" [MGI:anna] is_a: MP:0002239 ! abnormal nasal septum morphology [Term] id: MP:0004873 name: absent turbinates def: "absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage" [MGI:anna] synonym: "absent nasal conchae" EXACT [] is_a: MP:0002244 ! abnormal turbinate morphology [Term] id: MP:0004874 name: abnormal timing of postnatal eyelid opening def: "anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open" [MGI:csmith] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12). subset: Europhenome_Terms is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0004875 name: increased mean systemic arterial blood pressure def: "increase in the average arterial pressure during a single cardiac cycle" [MGI:csmith] subset: Europhenome_Terms synonym: "increased MAP" RELATED [] synonym: "increased mean arterial pressure" EXACT [] is_a: MP:0002842 ! increased systemic arterial blood pressure [Term] id: MP:0004876 name: decreased mean systemic arterial blood pressure def: "decrease in the average arterial pressure during a single cardiac cycle" [MGI:csmith] subset: Europhenome_Terms synonym: "decreased MAP" EXACT [] synonym: "decreased mean arterial pressure" EXACT [] synonym: "reduced MAP" EXACT [] synonym: "reduced mean arterial blood pressure" EXACT [] synonym: "reduced mean arterial pressure" EXACT [] is_a: MP:0002843 ! decreased systemic arterial blood pressure [Term] id: MP:0004877 name: abnormal systemic vascular resistance def: "anomaly in the normal force opposing blood flow in the peripheral blood vessels" [MGI:csmith] synonym: "abnormal SVR" EXACT [] synonym: "abnormal total peripheral resistance" EXACT [] is_a: MP:0005532 ! abnormal vascular resistance [Term] id: MP:0004878 name: increased systemic vascular resistance def: "increase in the normal force opposing blood flow in the peripheral blood vessels" [MGI:csmith] synonym: "increased SVR" EXACT [] is_a: MP:0004877 ! abnormal systemic vascular resistance [Term] id: MP:0004879 name: decreased systemic vascular resistance def: "reduction in the normal force opposing blood flow in the peripheral blood vessels" [MGI:csmith] synonym: "decreased SVR" EXACT [] synonym: "reduced systemic vascular resistance" EXACT [] is_a: MP:0004877 ! abnormal systemic vascular resistance [Term] id: MP:0004880 name: lung cysts def: "abnormal membranous or fluid-filled sacs appearing in the lung" [MGI:csmith] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0004881 name: abnormal lung size def: "anomaly in the size of the lung compared to controls" [MGI:csmith] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0004882 name: enlarged lung def: "increased size of the lung compared to controls" [MGI:csmith] synonym: "increased lung size" EXACT [] is_a: MP:0004881 ! abnormal lung size [Term] id: MP:0004883 name: abnormal vascular wound healing def: "anomaly in the repair process of damaged blood vessels after injury" [MGI:monikat] synonym: "abnormal blood vessel healing" EXACT [] synonym: "abnormal neointima formation" NARROW [] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0004884 name: abnormal testis physiology def: "any functional anomaly of the male reproductive glands" [MGI:smb] synonym: "abnormal didymus physiology" EXACT [] synonym: "abnormal male gonad physiology" EXACT [] synonym: "abnormal testicle physiology" EXACT [] synonym: "abnormal testicular physiology" EXACT [] synonym: "abnormal testiculus physiology" EXACT [] is_a: MP:0003698 ! abnormal male reproductive system physiology is_a: MP:0005647 ! abnormal sex gland physiology [Term] id: MP:0004885 name: abnormal endolymph def: "any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion" [MGI:anna] synonym: "abnormal endolympha" EXACT [] synonym: "abnormal Scarpa's fluid" EXACT [] synonym: "abnormal Scarpa's liquor" EXACT [] is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0004886 name: increased endolymph production def: "increased synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear" [MGI:anna] synonym: "increased endolympha production" EXACT [] synonym: "increased Scarpa fluid production" EXACT [] synonym: "increased Scarpa liquor production" EXACT [] is_a: MP:0004885 ! abnormal endolymph [Term] id: MP:0004887 name: decreased endolymph production def: "reduced synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear" [MGI:anna] synonym: "decreased endolympha production" EXACT [] synonym: "decreased Scarpa fluid production" EXACT [] synonym: "decreased Scarpa liquor production" EXACT [] synonym: "reduced endolymph production" RELATED [] is_a: MP:0004885 ! abnormal endolymph [Term] id: MP:0004888 name: abnormal perilymph def: "change in the normal production (volume) or ionic homeostasis of the fluid contained within the osseous labyrinth, surrounding and protecting the membranous labyrinth; perilymph resembles extracellular fluid in composition, has a high concentration of sodium ion and a low concentration of potassium ion and, through the perilymphatic duct, is in continuity with cerebrospinal fluid" [MGI:anna] synonym: "abnormal Cotunnius liquid" EXACT [] synonym: "abnormal perilympha" EXACT [] is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0004889 name: increased energy expenditure def: "increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten" [MGI:smb] subset: Sanger_Terms is_a: MP:0005450 ! abnormal energy expenditure [Term] id: MP:0004890 name: decreased energy expenditure def: "decrease in the number of calories used per unit time or increase in weight gain for a given amount of food eaten" [MGI:smb] subset: Sanger_Terms synonym: "reduced energy expenditure" EXACT [] is_a: MP:0005450 ! abnormal energy expenditure [Term] id: MP:0004891 name: abnormal adiponectin level def: "abnormal level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue" [MGI:csmith] is_a: MP:0003953 ! abnormal hormone level [Term] id: MP:0004892 name: increased adiponectin level def: "greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue" [MGI:csmith] is_a: MP:0004891 ! abnormal adiponectin level [Term] id: MP:0004893 name: decreased adiponectin level def: "reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue" [MGI:csmith] synonym: "reduced adiponectin level" EXACT [] is_a: MP:0004891 ! abnormal adiponectin level [Term] id: MP:0004894 name: uterus atrophy def: "acquired diminution of the size of the uterus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "metra atrophy" EXACT [] synonym: "metral atrophy" EXACT [] synonym: "uterine atrophy" EXACT [] is_a: MP:0002637 ! small uterus [Term] id: MP:0004895 name: vagina atrophy def: "acquired diminution of the size of the vagina associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "vaginal atrophy" RELATED [] is_a: MP:0008983 ! small vagina [Term] id: MP:0004896 name: abnormal endometrium morphology def: "any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MESH:A05.360.319.679.490, MGI:smb] synonym: "endometrium dysplasia" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0004897 name: otosclerosis def: "formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss" [MGI:anna] is_a: MP:0004289 ! abnormal bony labyrinth [Term] id: MP:0004898 name: uterine hemorrhage def: "presence of bleeding in the uterus; often in response to failed pregnancy" [MGI:llw2] synonym: "uterus bleeding" EXACT [] synonym: "uterus hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0004245 ! genital hemorrhage is_a: MP:0009671 ! abnormal uterus physiology [Term] id: MP:0004899 name: absent squamosal bone def: "absence of the thin, plate-like part of the temporal bone" [MGI:anna] is_a: MP:0004423 ! abnormal squamosal bone morphology [Term] id: MP:0004900 name: absent zygomatic arch def: "absence of the bony arch that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone" [MGI:anna] is_a: MP:0004469 ! abnormal zygomatic arch morphology [Term] id: MP:0004901 name: decreased male germ cell number def: "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2, MGI:smb] synonym: "decreased number of male germ cells" EXACT [] synonym: "male germ cell hypoplasia" RELATED [] synonym: "reduced male germ cell number" EXACT [] is_a: MP:0002209 ! decreased germ cell number is_a: MP:0006362 ! abnormal male germ cell morphology [Term] id: MP:0004902 name: abnormal uterus size def: "anomaly in the size of the female organ of gestation" [MGI:csmith] synonym: "abnormal metra size" EXACT [] synonym: "abnormal metral size" EXACT [] synonym: "abnormal uterine size" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0004903 name: abnormal uterus weight def: "anomaly in the weight of the female organ of gestation" [MGI:csmith] synonym: "abnormal metra weight" RELATED [] synonym: "abnormal metral weight" EXACT [] synonym: "abnormal uterine weight" EXACT [] is_a: MP:0004902 ! abnormal uterus size [Term] id: MP:0004904 name: increased uterus weight def: "increase in the weight of the female organ of gestation" [MGI:csmith] synonym: "increased metra weight" EXACT [] synonym: "increased metral weight" EXACT [] synonym: "increased uterine weight" EXACT [] is_a: MP:0004903 ! abnormal uterus weight is_a: MP:0004906 ! enlarged uterus [Term] id: MP:0004905 name: decreased uterus weight def: "reduction in the weight of the female organ of gestation" [MGI:csmith] synonym: "decreased metra weight" EXACT [] synonym: "decreased metral weight" EXACT [] synonym: "decreased uterine weight" EXACT [] synonym: "reduced uterine weight" EXACT [] synonym: "reduced uterus weight" EXACT [] is_a: MP:0002637 ! small uterus is_a: MP:0004903 ! abnormal uterus weight [Term] id: MP:0004906 name: enlarged uterus def: "increased size of the female muscular organ of gestation" [MGI:csmith] synonym: "enlarged metra" EXACT [] synonym: "increased uterine size" EXACT [] synonym: "increased uterus size" EXACT [] is_a: MP:0004902 ! abnormal uterus size [Term] id: MP:0004907 name: abnormal seminal vesicle size def: "anomaly in the size of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [MGI:csmith] synonym: "abnormal seminal gland size" EXACT [] is_a: MP:0002059 ! abnormal seminal vesicle morphology [Term] id: MP:0004908 name: abnormal seminal vesicle weight def: "anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [MGI:csmith] synonym: "abnormal seminal gland weight" EXACT [] is_a: MP:0004907 ! abnormal seminal vesicle size [Term] id: MP:0004909 name: increased seminal vesicle weight def: "increase in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [MGI:csmith] synonym: "increased seminal gland weight" EXACT [] is_a: MP:0002997 ! enlarged seminal vesicle is_a: MP:0004908 ! abnormal seminal vesicle weight [Term] id: MP:0004910 name: decreased seminal vesicle weight def: "reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [MGI:csmith] synonym: "decreased seminal gland weight" EXACT [] synonym: "reduced seminal gland weight" EXACT [] synonym: "reduced seminal vesicle weight" EXACT [] is_a: MP:0001157 ! small seminal vesicle is_a: MP:0004908 ! abnormal seminal vesicle weight [Term] id: MP:0004911 name: absent mandibular condyloid process def: "absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith] is_a: MP:0004595 ! abnormal mandibular condyloid process morphology [Term] id: MP:0004912 name: absent mandibular coronoid process def: "absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)" [MGI:csmith] is_a: MP:0004594 ! abnormal mandibular coronoid process morphology [Term] id: MP:0004913 name: absent mandibular angle def: "absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles" [MGI:csmith] is_a: MP:0004596 ! abnormal mandibular angle morphology [Term] id: MP:0004914 name: absent ultimobranchial body def: "absence of the sac-like structure emanating from the caudal-most branchial pouch of the embryo which develops into the lateral portion of the thyroid" [MGI:anna] is_a: MP:0003955 ! abnormal ultimobranchial body morphology [Term] id: MP:0004915 name: abnormal Reichert's cartilage morphology def: "any structural anomaly of the cartilage found in the mesenchyme of the second pharyngeal arch in the embryo from which develop the stapes, styloid process, lesser horn and upper part of the body of the hyoid bone; its proximal end gives rise to the stylohyoid ligament" [MGI:anna] synonym: "abnormal hyoid cartilage morphology" EXACT [] synonym: "abnormal Reichert cartilage morphology" EXACT [] synonym: "abnormal Reicherts cartilage morphology" EXACT [] synonym: "abnormal second pharyngeal arch cartilage morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0004916 name: absent Reichert cartilage def: "absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone" [MGI:anna] synonym: "absent hyoid cartilage" RELATED [] synonym: "absent Reicherts cartilage" EXACT [] synonym: "absent second pharyngeal arch cartilage" RELATED [] is_a: MP:0004915 ! abnormal Reichert's cartilage morphology [Term] id: MP:0004917 name: abnormal T cell selection def: "any anomaly in the process through which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation" [GO:0045058] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0004918 name: abnormal negative T cell selection def: "any anomaly in the process of elimination of immature T cells which react strongly with self-antigens" [GO:0043383] is_a: MP:0004917 ! abnormal T cell selection [Term] id: MP:0004919 name: abnormal positive T cell selection def: "any anomaly in the process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death" [GO:0043368] is_a: MP:0004917 ! abnormal T cell selection [Term] id: MP:0004920 name: increased placenta weight def: "increase in the weight of the organ of metabolic interchange between fetus and mother" [MGI:csmith] is_a: MP:0004257 ! abnormal placenta weight is_a: MP:0004260 ! enlarged placenta [Term] id: MP:0004921 name: decreased placenta weight def: "reduction in the weight of the organ of metabolic interchange between fetus and mother" [MGI:csmith] synonym: "reduced placenta weight" EXACT [] is_a: MP:0004257 ! abnormal placenta weight is_a: MP:0004259 ! small placenta [Term] id: MP:0004922 name: abnormal common crus morphology def: "any structural anomaly in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear" [MGI:anna] synonym: "abnormal common crus of semicircular ducts" EXACT [] synonym: "abnormal common membranous limb of membranous semicircular ducts" EXACT [] synonym: "abnormal crus membranaceum commune ductuum semicircularium" EXACT [] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0004923 name: absent common crus def: "absence of the united, nonampullary ends of the superior and posterior semicircular ducts in the inner ear" [MGI:anna] synonym: "absent common crus of semicircular ducts" EXACT [] synonym: "absent common membranous limb of membranous semicircular ducts" EXACT [] synonym: "absent crus membranaceum commune ductuum semicircularium" EXACT [] is_a: MP:0004922 ! abnormal common crus morphology [Term] id: MP:0004924 name: abnormal behavior def: "any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal general behavior" RELATED [] is_a: MP:0005386 ! behavior/neurological phenotype [Term] id: MP:0004925 name: decreased susceptibility to noise-induced hearing loss def: "less than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea" [MGI:anna] synonym: "increased resistance to noise-induced hearing loss" EXACT [] synonym: "reduced susceptibility to noise-induced hearing loss" EXACT [] is_a: MP:0006334 ! abnormal susceptibility to hearing loss [Term] id: MP:0004926 name: abnormal epididymis size def: "anomaly in the size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0004927 name: abnormal epididymis weight def: "anomaly in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] is_a: MP:0004926 ! abnormal epididymis size [Term] id: MP:0004928 name: increased epididymis weight def: "increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] is_a: MP:0004927 ! abnormal epididymis weight is_a: MP:0004931 ! enlarged epididymis [Term] id: MP:0004929 name: decreased epididymis weight def: "reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] synonym: "reduced epididymis weight" EXACT [] is_a: MP:0004927 ! abnormal epididymis weight is_a: MP:0004930 ! small epididymis [Term] id: MP:0004930 name: small epididymis def: "decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] is_a: MP:0004926 ! abnormal epididymis size [Term] id: MP:0004931 name: enlarged epididymis def: "increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] is_a: MP:0004926 ! abnormal epididymis size [Term] id: MP:0004932 name: epididymis hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] is_a: MP:0004930 ! small epididymis [Term] id: MP:0004933 name: abnormal epididymis epithelium morphology def: "any structural anomaly of the layer of secretory cells which lines the epididymis" [MGI:csmith] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0004934 name: epididymis epithelium degeneration def: "pathological deterioration of the layer of secretory cells which lines the epididymis" [MGI:csmith] synonym: "epididymis epithelial degeneration" EXACT [] is_a: MP:0004933 ! abnormal epididymis epithelium morphology is_a: MP:0004935 ! epididymis degeneration [Term] id: MP:0004935 name: epididymis degeneration def: "pathological deterioration of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith] synonym: "epididymal degeneration" EXACT [] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0004936 name: impaired branching involved in ureteric bud morphogenesis def: "partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith] synonym: "impaired ureteric bud branching morphogenesis" EXACT [] is_a: MP:0010981 ! abnormal branching involved in ureteric bud morphogenesis [Term] id: MP:0004937 name: dilated heart def: "stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid" [MGI:csmith] synonym: "heart dilation" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0004938 name: dilated vasculature def: "stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body" [MGI:csmith] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0004939 name: abnormal B cell morphology def: "any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens" [CL:0000236, MGI:csmith] synonym: "abnormal B lymphocyte morphology" EXACT [] synonym: "abnormal B-cell morphology" EXACT [] is_a: MP:0002619 ! abnormal lymphocyte morphology [Term] id: MP:0004940 name: abnormal B-1 B cell morphology def: "any structural anomaly of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas" [CL:0000819, MGI:csmith, PMID:11861604] synonym: "abnormal B-1 B lymphocyte morphology" EXACT [] synonym: "abnormal B-1 B-cell morphology" EXACT [] synonym: "abnormal B-1 B-lymphocyte morphology" EXACT [] synonym: "abnormal B1 cell morphology" EXACT [] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0004941 name: abnormal regulatory T cell morphology alt_id: MP:0002437 def: "any structural anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function" [MGI:csmith] synonym: "abnormal regulatory T lymphocyte morphology" EXACT [] synonym: "abnormal regulatory T-cell morphology" EXACT [] synonym: "abnormal regulatory T-lymphocyte" EXACT [] synonym: "abnormal suppressor T cell morphology" EXACT [] synonym: "abnormal suppressor T cell morphology/development" EXACT [] synonym: "abnormal suppressor T lymphocyte morphology" EXACT [] synonym: "abnormal suppressor T-cell morphology" EXACT [] synonym: "abnormal suppressor T-lymphocyte morphology" EXACT [] synonym: "abnormal Treg cell morphology" NARROW [] synonym: "suppressor T cell abnormalities" EXACT [] synonym: "suppressor T-cell abnormalities" EXACT [] xref: CL:0000815 is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0004942 name: abnormal B cell selection def: "anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival" [GO:0002339] xref: GO:0002339 is_a: MP:0002144 ! abnormal B cell differentiation [Term] id: MP:0004943 name: abnormal B cell positive selection def: "any anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival" [MGI:csmith] xref: GO:0002346 is_a: MP:0004942 ! abnormal B cell selection [Term] id: MP:0004944 name: abnormal B cell negative selection def: "any anomaly in the process through which B cells which react strongly with self-antigens are eliminated, usually through anergy or deletion" [MGI:csmith] xref: GO:0002352 is_a: MP:0004942 ! abnormal B cell selection [Term] id: MP:0004945 name: abnormal bone resorption def: "anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts" [MGI:csmith] is_a: MP:0002998 ! abnormal bone remodeling [Term] id: MP:0004946 name: abnormal regulatory T cell physiology def: "any functional anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function" [MGI:csmith] is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0004947 name: skin inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the skin" [MGI:csmith] synonym: "rubor" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0004948 name: abnormal neuronal precursor proliferation def: "any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith] synonym: "abnormal neuroblast proliferation" EXACT [] synonym: "abnormal neuronal progenitor proliferation" EXACT [] is_a: MP:0009967 ! abnormal neuron proliferation [Term] id: MP:0004949 name: absent neuronal precursor cells def: "absence of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith] synonym: "absent neuroblast cells" EXACT [] synonym: "absent neuronal progenitor cells" EXACT [] is_a: MP:0004981 ! decreased neuronal precursor cell number [Term] id: MP:0004950 name: abnormal brain vasculature morphology def: "any structural anomaly of the blood vessel network of the brain" [MGI:csmith] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0004951 name: abnormal spleen weight def: "anomaly in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith] synonym: "abnormal splenic weight" EXACT [] is_a: MP:0002224 ! abnormal spleen size [Term] id: MP:0004952 name: increased spleen weight def: "greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith] synonym: "increased splenic weight" EXACT [] is_a: MP:0000691 ! enlarged spleen is_a: MP:0004951 ! abnormal spleen weight [Term] id: MP:0004953 name: decreased spleen weight def: "reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith] synonym: "decreased splenic weight" RELATED [] synonym: "reduced spleen weight" EXACT [] is_a: MP:0000692 ! small spleen is_a: MP:0004951 ! abnormal spleen weight [Term] id: MP:0004954 name: abnormal thymus weight def: "anomaly in the average weight of the primary lymphoid organ that is required for maturation of T cells" [MGI:csmith] is_a: MP:0002364 ! abnormal thymus size [Term] id: MP:0004955 name: increased thymus weight def: "greater than average weight of the primary lymphoid organ that is required for maturation of T cells" [MGI:csmith] is_a: MP:0000709 ! enlarged thymus is_a: MP:0004954 ! abnormal thymus weight [Term] id: MP:0004956 name: decreased thymus weight def: "reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells" [MGI:csmith] synonym: "reduced thymus weight" EXACT [] is_a: MP:0000706 ! small thymus is_a: MP:0004954 ! abnormal thymus weight [Term] id: MP:0004957 name: abnormal blastocyst morphology def: "any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo" [MGI:csmith] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0004958 name: enlarged prostate gland def: "increased size of the gland in males that secretes part of the seminiferous fluid" [MGI:csmith] is_a: MP:0004959 ! abnormal prostate gland size [Term] id: MP:0004959 name: abnormal prostate gland size def: "anomaly in the average size of the gland in males that secretes part of the seminiferous fluid" [MGI:csmith] synonym: "abnormal prostate size" EXACT [] is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0004960 name: abnormal prostate gland weight def: "anomaly in the average weight of the gland in males that secretes part of the seminiferous fluid" [MGI:csmith] synonym: "abnormal prostate weight" RELATED [] is_a: MP:0004959 ! abnormal prostate gland size [Term] id: MP:0004961 name: increased prostate gland weight def: "greater than average weight of the gland in males that secretes part of the seminiferous fluid" [MGI:csmith] synonym: "increased prostate weight" EXACT [] is_a: MP:0004958 ! enlarged prostate gland is_a: MP:0004960 ! abnormal prostate gland weight [Term] id: MP:0004962 name: decreased prostate gland weight def: "reduction in the average weight of the gland in males that secretes part of the seminiferous fluid" [MGI:csmith] synonym: "decreased prostate weight" RELATED [] synonym: "reduced prostate weight" EXACT [] is_a: MP:0002774 ! small prostate gland is_a: MP:0004960 ! abnormal prostate gland weight [Term] id: MP:0004963 name: abnormal blastocoele morphology def: "any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals" [MGI:csmith] synonym: "abnormal blastocoel cavity" EXACT [] is_a: MP:0004957 ! abnormal blastocyst morphology [Term] id: MP:0004964 name: absent inner cell mass def: "absence of the cells of the blastocyst that develop into the body of the embryo" [MGI:csmith] is_a: MP:0002718 ! abnormal inner cell mass morphology [Term] id: MP:0004965 name: inner cell mass degeneration def: "a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo" [MGI:csmith] is_a: MP:0002718 ! abnormal inner cell mass morphology [Term] id: MP:0004966 name: abnormal inner cell mass proliferation def: "any anomaly in the ability of the inner cell mass population to undergo rapid expansion by cell division" [MGI:csmith] synonym: "abnormal inner cell mass growth" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0004967 name: abnormal kidney epithelium morphology def: "any structural anomaly of the cellular avascular layer of the kidney luminar surfaces" [MGI:csmith] synonym: "abnormal renal epithelium morphology" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0004968 name: kidney epithelium hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells of the cellular avascular layer of the kidney luminar surfaces" [MGI:csmith] synonym: "renal epithelial hyperplasia" EXACT [] synonym: "renal epithelium hyperplasia" EXACT [] is_a: MP:0004967 ! abnormal kidney epithelium morphology [Term] id: MP:0004969 name: pale kidney def: "kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0004970 name: kidney atrophy alt_id: MP:0003013 def: "acquired diminution of the size of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "renal atrophy" EXACT [] is_a: MP:0002989 ! small kidney [Term] id: MP:0004971 name: dermal hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the dermal layer of the skin" [MGI:csmith] synonym: "excessive skin" BROAD [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0004972 name: abnormal regulatory T cell number def: "deviation from the average count of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity" [MGI:csmith] synonym: "abnormal suppressor T cell number" EXACT [] synonym: "abnormal Treg cell number" EXACT [] is_a: MP:0004941 ! abnormal regulatory T cell morphology is_a: MP:0006387 ! abnormal T cell number [Term] id: MP:0004973 name: increased regulatory T cell number def: "greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity" [MGI:csmith] subset: Sanger_Terms synonym: "increased suppressor T cell number" EXACT [] synonym: "increased Treg cell number" EXACT [] is_a: MP:0004972 ! abnormal regulatory T cell number is_a: MP:0005015 ! increased T cell number [Term] id: MP:0004974 name: decreased regulatory T cell number def: "reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity" [MGI:csmith] subset: Sanger_Terms synonym: "decreased suppressor T cell number" EXACT [] synonym: "decreased Treg cell number" EXACT [] synonym: "reduced regulatory T cell number" EXACT [] synonym: "reduced Treg cell number" EXACT [] is_a: MP:0004972 ! abnormal regulatory T cell number is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0004975 name: absent regulatory T cells def: "absence of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity" [MGI:csmith] synonym: "absent suppressor T cells" EXACT [] synonym: "absent Treg cells" RELATED [] is_a: MP:0004974 ! decreased regulatory T cell number is_a: MP:0008070 ! absent T cells [Term] id: MP:0004976 name: abnormal B-1 B cell number def: "deviation from the normal count of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity" [MGI:csmith] synonym: "abnormal B1 cell number" EXACT [] is_a: MP:0004940 ! abnormal B-1 B cell morphology [Term] id: MP:0004977 name: increased B-1 B cell number def: "greater number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity" [MGI:csmith] synonym: "increased B1 cell number" EXACT [] is_a: MP:0004976 ! abnormal B-1 B cell number is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0004978 name: decreased B-1 B cell number def: "reduced number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity" [MGI:csmith] synonym: "decreased B1 cell number" EXACT [] synonym: "reduced B-1 B cell number" EXACT [] is_a: MP:0004976 ! abnormal B-1 B cell number is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0004979 name: abnormal neuronal precursor cell number def: "deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith] synonym: "abnormal neuroblast cell number" EXACT [] synonym: "abnormal number of neural progenitor cells" EXACT [] is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0004980 name: increased neuronal precursor cell number def: "increased number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith] synonym: "expansion of neuronal precursor cells" EXACT [] synonym: "increased number of neuronal precursor cells" EXACT [] is_a: MP:0004979 ! abnormal neuronal precursor cell number [Term] id: MP:0004981 name: decreased neuronal precursor cell number def: "reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith] synonym: "reduced number of neuronal precursor cells" EXACT [] is_a: MP:0004979 ! abnormal neuronal precursor cell number [Term] id: MP:0004982 name: abnormal osteoclast morphology def: "any structural anomaly of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith] synonym: "abnormal osteophage morphology" EXACT [] is_a: MP:0002446 ! abnormal macrophage morphology is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0004983 name: abnormal osteoclast cell number def: "deviation from the average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith] is_a: MP:0004982 ! abnormal osteoclast morphology [Term] id: MP:0004984 name: increased osteoclast cell number def: "greater than average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith] is_a: MP:0004983 ! abnormal osteoclast cell number is_a: MP:0005425 ! increased macrophage cell number [Term] id: MP:0004985 name: decreased osteoclast cell number def: "reduced number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith] synonym: "reduced osteoclast cell number" EXACT [] is_a: MP:0003884 ! decreased macrophage cell number is_a: MP:0004983 ! abnormal osteoclast cell number [Term] id: MP:0004986 name: abnormal osteoblast morphology def: "any structural anomaly of a bone-forming cell, which secrete extracellular matrix components and form an osseous matrix (osteoid)" [MESH:A.11.329.629, MGI:csmith] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0004987 name: abnormal osteoblast cell number def: "deviation from the average number of the bone-forming cells, which secrete extracellular matrix components and form an osseous matrix (osteoid)" [MESH:A.11.329.629, MGI:csmith] is_a: MP:0004986 ! abnormal osteoblast morphology [Term] id: MP:0004988 name: increased osteoblast cell number alt_id: MP:0002744 def: "greater than average number of the bone-forming cells, which secrete extracellular matrix components and form an osseous matrix (osteoid)" [MESH:A.11.329.629, MGI:csmith] synonym: "increased osteoblast formation" EXACT [] is_a: MP:0004987 ! abnormal osteoblast cell number [Term] id: MP:0004989 name: decreased osteoblast cell number alt_id: MP:0000058 def: "reduction in the number of the bone-forming cells, which secrete extracellular matrix components and form an osseous matrix (osteoid)" [MESH:A.11.329.629, MGI:csmith] synonym: "decreased osteoblast formation" EXACT [] synonym: "reduced osteoblast cell number" EXACT [] synonym: "reduced osteoblast formation" EXACT [] is_a: MP:0004987 ! abnormal osteoblast cell number [Term] id: MP:0004990 name: abnormal ciliary ganglion morphology def: "any structural anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve" [MGI:monikat] synonym: "abnormal ciliary ganglia morphology" EXACT [] synonym: "abnormal lenticular ganglion morphology" EXACT [] synonym: "abnormal Schacher ganglion" EXACT [] is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology [Term] id: MP:0004991 name: decreased bone strength def: "reduced ability of bone to endure the application of force without yielding or breaking" [MGI:csmith] synonym: "reduced bone strength" EXACT [] is_a: MP:0001542 ! abnormal bone strength [Term] id: MP:0004992 name: increased bone resorption def: "greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith] is_a: MP:0004945 ! abnormal bone resorption [Term] id: MP:0004993 name: decreased bone resorption def: "reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith] synonym: "reduced bone resorption" EXACT [] is_a: MP:0004945 ! abnormal bone resorption [Term] id: MP:0004994 name: abnormal brain wave pattern def: "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith] synonym: "abnormal ECoG pattern" EXACT [] synonym: "abnormal EEG pattern" EXACT [] synonym: "abnormal electrocorticogram pattern" EXACT [] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0004995 name: abnormal B cell clonal deletion def: "a defect in the process of removal by apoptosis of immature B lymphocytes that interact with self antigens during maturation" [MGI:acv] is_a: MP:0004944 ! abnormal B cell negative selection is_a: MP:0005001 ! abnormal clonal deletion [Term] id: MP:0004996 name: abnormal CNS synapse formation def: "any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron" [MGI:csmith] is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0004997 name: increased CNS synapse formation def: "greater frequency of the process of generating the initial connections between an axon and effector tissue or neuron" [MGI:csmith] is_a: MP:0004996 ! abnormal CNS synapse formation [Term] id: MP:0004998 name: decreased CNS synapse formation def: "a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron" [MGI:csmith] synonym: "reduced CNS synapse formation" EXACT [] is_a: MP:0004996 ! abnormal CNS synapse formation [Term] id: MP:0004999 name: abnormal blood-inner ear barrier function def: "anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier" [MGI:anna] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0005000 name: abnormal immune tolerance def: "anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it" [GO:0002507, MGI:csmith] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0005001 name: abnormal clonal deletion def: "a defect in the process of removal of immature lymphocytes that interact with self antigens during maturation" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "clonal deletion abnormalities" EXACT [] is_a: MP:0005000 ! abnormal immune tolerance [Term] id: MP:0005002 name: abnormal T cell clonal deletion def: "a defect in the process of removal of immature T lymphocytes that interact with self antigens during maturation" [ISBN:0-8153-1691-7] synonym: "T cell clonal deletion abnormalities" EXACT [] synonym: "T lymphocyte clonal deletion abnormalities" EXACT [] synonym: "T-cell clonal deletion abnormalities" EXACT [] is_a: MP:0004918 ! abnormal negative T cell selection is_a: MP:0005001 ! abnormal clonal deletion [Term] id: MP:0005003 name: B cell clonal deletion abnormalities def: "OBSOLETE. a defect in the process of removal of immature B lymphocytes that interact with self antigens during maturation" [ISBN:0-8153-1691-7] synonym: "B lymphocyte clonal deletion abnormalities" EXACT [] synonym: "B-cell clonal deletion abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0005004 name: abnormal lymphocyte anergy def: "anomaly in the process of establishing a state of functional inactivation of self-reactive lymphocytes" [GO:0002249, MGI:csmith] synonym: "abnormal anergy" EXACT [] synonym: "abnormal clonal anergy" EXACT [] is_a: MP:0005000 ! abnormal immune tolerance [Term] id: MP:0005005 name: abnormal self tolerance def: "a defect in the normal lack of response to autologous (self) antigens" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "self tolerance abnormalities" EXACT [] is_a: MP:0005000 ! abnormal immune tolerance [Term] id: MP:0005006 name: abnormal osteoblast physiology def: "any functional anomaly of bone-forming cells, which normally form an osseous matrix in which it becomes enclosed as an osteocyte" [ISBN:0-683-40008-8] is_a: MP:0002998 ! abnormal bone remodeling [Term] id: MP:0005009 name: congenital skeletal deformities def: "OBSOLETE. malformations of the bones/skeleton existing at birth" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0005010 name: abnormal CD8-positive T cell morphology def: "any structural anomaly of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MESH:A11.118.637.555.567.569.220] synonym: "abnormal CD8+ T cell morphology" EXACT [] synonym: "abnormal single positive T cell morphology" BROAD [] synonym: "CD8+ T cell abnormalities" EXACT [] synonym: "CD8+ T-cell abnormalities" EXACT [] is_a: MP:0002435 ! abnormal effector T cell morphology [Term] id: MP:0005011 name: increased eosinophil cell number def: "greater than normal eosinophil numbers" [MGI:cwg] subset: Europhenome_Terms synonym: "eosinophilia" EXACT [] synonym: "increased eosinophil count" EXACT [] synonym: "increased eosinophil number" EXACT [] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0002602 ! abnormal eosinophil cell number [Term] id: MP:0005012 name: decreased eosinophil cell number def: "fewer than normal eosinophil numbers" [MGI:cwg] subset: Europhenome_Terms synonym: "decreased eosinophil count" EXACT [] synonym: "decreased eosinophil number" EXACT [] synonym: "reduced eosinophil cell number" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0002602 ! abnormal eosinophil cell number [Term] id: MP:0005013 name: increased lymphocyte cell number alt_id: MP:0000323 alt_id: MP:0000718 alt_id: MP:0000720 def: "greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells" [MGI:csmith, MGI:cwg] subset: Europhenome_Terms synonym: "increased immune cell number" BROAD [] synonym: "increased lymphocyte count" EXACT [] synonym: "lymphocytosis" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0000717 ! abnormal lymphocyte cell number [Term] id: MP:0005014 name: increased B cell number def: "greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity" [ISBN:0-8036-0655-99, MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased B cell count" EXACT [] synonym: "increased B lymphocyte count" EXACT [] synonym: "increased B lymphocyte number" EXACT [] synonym: "increased B-cell count" EXACT [] is_a: MP:0002458 ! abnormal B cell number is_a: MP:0005013 ! increased lymphocyte cell number [Term] id: MP:0005015 name: increased T cell number def: "greater than normal T cell numbers" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased T cell count" EXACT [] synonym: "increased T-cell count" EXACT [] is_a: MP:0005013 ! increased lymphocyte cell number is_a: MP:0006387 ! abnormal T cell number [Term] id: MP:0005016 name: decreased lymphocyte cell number alt_id: MP:0000335 alt_id: MP:0000722 alt_id: MP:0000724 def: "fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells" [MGI:csmith, MGI:cwg] subset: Europhenome_Terms synonym: "decreased immune cell number" BROAD [] synonym: "decreased lymphocyte count" EXACT [] synonym: "lymphopenia" EXACT [] synonym: "reduced lymphocyte cell number" EXACT [] synonym: "reduced lymphocyte count" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0000717 ! abnormal lymphocyte cell number [Term] id: MP:0005017 name: decreased B cell number def: "fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity" [ISBN:0-8036-0655-99, MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased B cell count" EXACT [] synonym: "decreased B lymphocyte count" EXACT [] synonym: "decreased B-cell count" EXACT [] synonym: "reduced B cell number" EXACT [] synonym: "reduced B lymphocyte count" EXACT [] is_a: MP:0002458 ! abnormal B cell number is_a: MP:0005016 ! decreased lymphocyte cell number [Term] id: MP:0005018 name: decreased T cell number def: "fewer than normal T cell numbers" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased T cell count" EXACT [] synonym: "decreased T-cell count" EXACT [] synonym: "decreased T-cell number" EXACT [] synonym: "reduced T cell number" EXACT [] synonym: "reduced T lymphocyte number" EXACT [] synonym: "reduced T-cell count" EXACT [] synonym: "reduced T-cell number" EXACT [] synonym: "reduced T-lymphocyte number" EXACT [] is_a: MP:0005016 ! decreased lymphocyte cell number is_a: MP:0006387 ! abnormal T cell number [Term] id: MP:0005019 name: abnormal early pro-B cell def: "any structural anomaly of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells express no surface Ig; cell surface markers for these cells are: CD45R, MHC class II, CD19, CD38, CD40. synonym: "early pro-B cell abnormalities" EXACT [] synonym: "early pro-B-cell abnormalities" EXACT [] is_a: MP:0005432 ! abnormal pro-B cell morphology [Term] id: MP:0005020 name: abnormal late pro-B cell def: "any structural anomaly of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells express no surface Ig; cell surface markers for these cells are: CD45R, MHC class II, CD19, CD38, CD40. synonym: "late pro-B cell abnormalities" EXACT [] synonym: "late pro-B-cell abnormalities" EXACT [] is_a: MP:0005432 ! abnormal pro-B cell morphology [Term] id: MP:0005021 name: B lymphoblast abnormalities def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005022 name: abnormal immature B cell morphology def: "any structural anomaly of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells express IgM on their surface, in addition to CD45R, MHC class II, CD19, CD20, CD21, CD40. synonym: "immature B cell abnormalities" EXACT [] synonym: "immature B lymphocyte abnormalities" EXACT [] synonym: "immature B-cell abnormalities" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0005023 name: abnormal wound healing def: "aberrant process of repair of trauma to any tissues of the body, especially that caused by physical means" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0005025 name: abnormal response to infection def: "any anomaly in the body's reaction to invasion and multiplication of microorganisms in its tissues, or the body's reaction to components of or toxins produced by pathogenic microorganisms" [MGI:cwg] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0005026 name: decreased susceptibility to parasitic infection def: "reduced likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites" [MGI:cwg] synonym: "decreased susceptibility to parasite infection" EXACT [] synonym: "increased resistance to parasitic infection" EXACT [] synonym: "reduced susceptibility to parasitic infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection [Term] id: MP:0005027 name: increased susceptibility to parasitic infection def: "greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites" [MGI:cwg] synonym: "decreased resistance to parasitic infection" EXACT [] synonym: "increased susceptibility to parasite infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection [Term] id: MP:0005028 name: abnormal trophectoderm morphology def: "any structural anomaly outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition" [ISBN:0-683-40008-8, MGI:dlb] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology is_a: MP:0004957 ! abnormal blastocyst morphology is_a: MP:0011203 ! abnormal parietal yolk sac morphology [Term] id: MP:0005029 name: abnormal amnion morphology def: "any structural anomaly of the innermost layer of the extraembryonic membranes" [ISBN:0-683-40008-8, MGI:dlb] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0005030 name: absent amnion def: "missing innermost of the extraembryonic membranes" [J:57761, MGI:dlb] synonym: "absence of amnion" EXACT [] is_a: MP:0005029 ! abnormal amnion morphology [Term] id: MP:0005031 name: abnormal trophoblast layer morphology def: "any structural anomaly of the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta" [ISBN:0-683-40008-8] synonym: "abnormal trophoblast" RELATED [] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0005032 name: abnormal ectoplacental cone morphology def: "any structural anomaly of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta" [MGI:cwg] synonym: "abnormal epamniotic cone" EXACT [] is_a: MP:0001712 ! abnormal placenta development [Term] id: MP:0005033 name: abnormal trophoblast giant cells def: "anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta" [ISBN:0-683-40008-8, MGI:dlb] is_a: MP:0005031 ! abnormal trophoblast layer morphology [Term] id: MP:0005034 name: abnormal anus morphology def: "any structural anomaly of the lower opening of the digestive tract" [ISBN:0-683-40008-8] synonym: "abnormal anal orifice morphology" EXACT [] synonym: "anus abnormalities" BROAD [] synonym: "anus dysplasia" EXACT [] is_a: MP:0009053 ! abnormal anal canal morphology [Term] id: MP:0005035 name: perianal ulceration def: "lesion around or near the anus" [MGI:cml] is_a: MP:0005034 ! abnormal anus morphology [Term] id: MP:0005036 name: diarrhea def: "abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel" [ISBN:0-683-40008-8] is_a: MP:0003866 ! abnormal defecation [Term] id: MP:0005037 name: mucous diarrhea def: "presence of considerable mucous in the stools" [ISBN:0-683-40008-8] synonym: "anal mucous discharge" EXACT [] is_a: MP:0005036 ! diarrhea [Term] id: MP:0005039 name: hypoxia def: "reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [ISBN:0-683-40008-8] synonym: "decreased partial O2 level" EXACT [] is_a: MP:0001574 ! abnormal oxygen level [Term] id: MP:0005040 name: abnormal MHC II cell surface expression on macrophages def: "anomaly in the ability of macrophages to express major histocompatibility complex class II at the cell surface" [J:31326, MGI:cwg] is_a: MP:0002454 ! abnormal macrophage antigen presentation is_a: MP:0005042 ! abnormal level of surface class II molecules [Term] id: MP:0005041 name: abnormal antigen presentation via MHC class II alt_id: MP:0001843 def: "anomaly in the process by which peptide, bound to major histocompatibility complex class II, is presented to lymphocytes at the surface of antigen presenting cells" [MGI:cwg] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002453 ! abnormal B lymphocyte antigen presentation [Term] id: MP:0005042 name: abnormal level of surface class II molecules def: "deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface" [MGI:cwg] comment: Unlike class I, which is expressed by almost all nucleated cells, only B cells, macrophages, other antigen presenting cells (e.g., Langerhans' cells), and epithelial cells of the thymus express MHC class II at their surface. is_a: MP:0005041 ! abnormal antigen presentation via MHC class II [Term] id: MP:0005043 name: defective assembly of class II molecules def: "impaired production of major histocompatibility complex class II molecules" [MGI:cwg] is_a: MP:0005041 ! abnormal antigen presentation via MHC class II [Term] id: MP:0005044 name: sepsis def: "presence of various pathogenic organisms, or their toxins, in the blood or tissues" [ISBN:0-683-40008-8] is_a: MP:0005025 ! abnormal response to infection [Term] id: MP:0005046 name: absent spleen white pulp def: "absence of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith] synonym: "absent splenic white pulp" RELATED [] synonym: "failure of spleen white pulp formation" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0005047 name: enlarged celiac lymph nodes def: "increased size of the celiac lymph nodes" [J:31167, MGI:cwg] is_a: MP:0009626 ! abnormal celiac lymph node morphology [Term] id: MP:0005048 name: thrombosis def: "formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0002551 ! abnormal blood coagulation [Term] id: MP:0005049 name: abnormal cytokine physiology def: "OBSOLETE. functional anomaly of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells" [ISBN:0-8153-1691-7, MGI:cwg] comment: This term is obsolete. Instead, use the terms abnormal cytokine level (MP:0008713) and its children or abnormal cytokine secretion (MP:0003009) and its children. is_obsolete: true consider: MP:0003009 consider: MP:0008713 [Term] id: MP:0005050 name: abnormal chemotactic interleukin physiology def: "OBSOLETE. functional anomaly of any of a subset of interleukins that are involved in attracting leukocytes to a site of tissue injury" [MGI:cwg] synonym: "chemotactic interleukins" EXACT [] is_obsolete: true [Term] id: MP:0005051 name: altered response to anesthetics def: "OBSOLETE. a reaction that differs from normal to compounds that reversibly depress neuronal function" [MGI:cwg] synonym: "altered sensitivity to anesthetics" EXACT [] is_obsolete: true [Term] id: MP:0005052 name: increased sleep after pentobarbital treatment def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005053 name: altered response to pentobarbital def: "OBSOLETE. a reaction to pentobarbital that differs from normal" [MGI:cwg] synonym: "altered sensitivity to pentobarbital" EXACT [] is_obsolete: true [Term] id: MP:0005054 name: altered response to tribromoethanol def: "OBSOLETE. a reaction to tribromoethanol that differs from normal" [MGI:cwg] synonym: "altered sensitivity to tribromoethanol" EXACT [] is_obsolete: true [Term] id: MP:0005055 name: altered response to alphaxalone def: "OBSOLETE. a reaction to alphaxalone that differs from controls" [MGI:cwg] synonym: "altered sensitivity to alphaxalone" EXACT [] is_obsolete: true [Term] id: MP:0005056 name: increased sleep after tribromoethanol treatment def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005057 name: increased sleep after alphaxalone treatment def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005058 name: abnormal lysosome morphology def: "any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal lysosome" EXACT [] xref: GO:0005764 is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0005059 name: lysosomal protein accumulation def: "buildup of protein in the lysosome" [MGI:cwg] xref: GO:0007041 is_a: MP:0003172 ! abnormal lysosome physiology [Term] id: MP:0005060 name: accumulation of giant lysosomes in kidney/renal tubule cells def: "buildup of contents in lysosomes in cells of the kidney tubules" [MGI:cwg, PMID:408] comment: PMID:408 is correct. is_a: MP:0002703 ! abnormal renal tubule morphology is_a: MP:0005058 ! abnormal lysosome morphology [Term] id: MP:0005061 name: abnormal eosinophil morphology def: "any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions" [CL:0000771, ISBN:0721601464] synonym: "abnormal eosinocyte morphology" EXACT [] synonym: "abnormal eosinophilic leucocyte morphology" EXACT [] synonym: "abnormal eosinophilic leukocyte morphology" EXACT [] synonym: "abnormal polymorphonuclear leucocyte morphology" BROAD [] synonym: "abnormal polymorphonuclear leukocyte morphology" BROAD [] synonym: "eosinophil structural abnormalities" EXACT [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0005062 name: presence of giant granules in eosinophils def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005064 name: presence of giant granules in lymphocytes def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005065 name: abnormal neutrophil morphology def: "any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes" [CL:0000775, ISBN:0721601464] synonym: "abnormal neutrocyte morphology" EXACT [] synonym: "abnormal neutrophil leucocyte morphology" EXACT [] synonym: "abnormal neutrophil leukocyte morphology" EXACT [] synonym: "abnormal neutrophilic leucocyte morphology" EXACT [] synonym: "abnormal neutrophilic leukocyte morphology" EXACT [] synonym: "abnormal PMN morphology" BROAD [] synonym: "abnormal polymorphonuclear cell" EXACT [] synonym: "abnormal polymorphonuclear leucocyte morphology" BROAD [] synonym: "abnormal polymorphonuclear leukocyte morphology" BROAD [] synonym: "abnormal polymorphonuclear neutrophil morphology" BROAD [] synonym: "abnormal polynuclear neutrophilic leucocyte morphology" BROAD [] synonym: "abnormal polynuclear neutrophilic leukocyte morphology" BROAD [] synonym: "neutrophil structural abnormalities" EXACT [] is_a: MP:0002441 ! abnormal granulocyte morphology is_a: MP:0008251 ! abnormal phagocyte morphology [Term] id: MP:0005066 name: presence of giant granules in neutrophils def: "OBSOLETE." [MGI:csmith] is_obsolete: true [Term] id: MP:0005067 name: presence of melanin granules in retina def: "OBSOLETE. pigment particles found in retina" [MGI:csmith] is_obsolete: true [Term] id: MP:0005068 name: abnormal NK cell morphology def: "any structural anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [ISBN:0781735149, MGI:csmith, PMID:15771571] synonym: "abnormal natural killer cell" EXACT [] synonym: "abnormal NK cells" EXACT [] synonym: "natural killer cell abnormalities" EXACT [] synonym: "NK cell abnormalities" EXACT [] xref: CL:0000623 xref: FMA:63147 xref: FMA:83601 is_a: MP:0002619 ! abnormal lymphocyte morphology [Term] id: MP:0005070 name: impaired natural killer cell mediated cytotoxicity def: "impaired ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors" [GO:0042267, ISBN:0-683-40008-8] synonym: "defective natural killer cell cytolysis" EXACT [] synonym: "defective NK cell cytolysis" EXACT [] synonym: "impaired killer activity" BROAD [] synonym: "impaired natural killer cell mediated cell death" EXACT [] synonym: "impaired natural killer cell mediated cell killing" EXACT [] synonym: "impaired natural killer cell mediated cytolysis" EXACT [] synonym: "impaired natural killer-cell mediated cytolysis" EXACT [] synonym: "impaired NK cell cytolysis" EXACT [] synonym: "impaired NK cell mediated cell death" EXACT [] synonym: "impaired NK cell mediated cell killing" EXACT [] synonym: "impaired NK cell mediated cytolysis" EXACT [] synonym: "impaired NK cell mediated cytotoxicity" EXACT [] is_a: MP:0011719 ! abnormal natural killer cell mediated cytotoxicity [Term] id: MP:0005071 name: enlarged hair follicle melanin granules def: "increased size of the pigment particles located in the hair follicle" [MGI:llw2] is_a: MP:0005072 ! abnormal hair follicle melanin granule morphology [Term] id: MP:0005072 name: abnormal hair follicle melanin granule morphology def: "any structural anomaly of the pigment particles in the hair follicles" [MGI:cwg] synonym: "hair follicle melanin granule abnormalities" EXACT [] is_a: MP:0000377 ! abnormal hair follicle morphology is_a: MP:0004381 ! abnormal hair follicle melanocyte morphology is_a: MP:0005075 ! abnormal melanosome morphology [Term] id: MP:0005074 name: impaired granulocyte bactericidal activity def: "inability or reduced ability of neutrophils, eosinophils, or basophils to kill bacteria" [J:5405, MGI:cwg] synonym: "defective granulocyte bactericidal activity" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0005075 name: abnormal melanosome morphology def: "any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored" [J:5346, MGI:cwg] synonym: "abnormal melanin granule morphology" NARROW [] synonym: "abnormal melanosome" EXACT [] xref: GO:0042470 is_a: MP:0002877 ! abnormal melanocyte morphology [Term] id: MP:0005076 name: abnormal cell differentiation def: "anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history" [MGI:cwg] xref: GO:0030154 is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0005077 name: abnormal melanogenesis def: "anomaly in the biosynthetic pathway of melanin formation in cells" [J:5346, MGI:cwg] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0005078 name: abnormal cytotoxic T cell physiology def: "any functional anomaly of the subset of CD8-positive T lymphocytes capable of directly killing appropriately targeted cells" [MESH:A11.118.637.555.567.569.220.200] synonym: "CTL dysfunction" EXACT [] synonym: "cytotoxic T cell dysfunction" EXACT [] synonym: "cytotoxic T lymphocyte dysfunction" EXACT [] synonym: "cytotoxic T-cell dysfunction" EXACT [] is_a: MP:0004392 ! abnormal CD8-positive T cell physiology [Term] id: MP:0005079 name: defective cytotoxic T cell cytolysis def: "impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane" [MGI:cwg] synonym: "defective CTL cytolysis" EXACT [] synonym: "defective cytotoxic T lymphocyte cytolysis" EXACT [] synonym: "defective cytotoxic T-cell cytolysis" EXACT [] is_a: MP:0005078 ! abnormal cytotoxic T cell physiology [Term] id: MP:0005081 name: abnormal dermis reticular layer morphology def: "any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles" [ISBN:0-683-40008-8] synonym: "abnormal reticular layer morphology" EXACT [] synonym: "abnormal stratum reticulare corii" EXACT [] synonym: "abnormal stratum reticulare cutis" EXACT [] synonym: "abnormal stratum reticulare morphology" EXACT [] synonym: "abnormal tunica propria corii" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0005083 name: abnormal biliary tract morphology def: "any structural anomaly of the gall bladder or its bile ducts" [MESH:A03.159] synonym: "biliary tract dysplasia" EXACT [] is_a: MP:0002138 ! abnormal hepatobiliary system morphology [Term] id: MP:0005084 name: abnormal gallbladder morphology def: "any structural anomaly of the organ which serves as a storage reservoir for bile" [ISBN:0-683-40008-8, MESH:A03.159.439] comment: Note that rats, horses and deer do not have a gallbladder. Mice and human have a gallbladder. synonym: "abnormal cholecyst morphology" RELATED [] synonym: "gall bladder dysplasia" EXACT [] synonym: "gallbladder abnormalities" BROAD [] is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0005083 ! abnormal biliary tract morphology [Term] id: MP:0005085 name: abnormal gallbladder physiology def: "any functional anomaly of the organ that stores and concentrates bile" [ISBN:0-683-40008-8] synonym: "abnormal gall bladder function" EXACT [] synonym: "abnormal gall bladder physiology" EXACT [] synonym: "abnormal gallbladder function" EXACT [] is_a: MP:0002139 ! abnormal hepatobiliary system physiology [Term] id: MP:0005087 name: decreased acute inflammation def: "less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response" [ISBN:0-397-51047-0] synonym: "diminished acute inflammation" EXACT [] synonym: "diminished acute inflammatory response" EXACT [] synonym: "reduced acute inflammation" EXACT [] synonym: "reduced acute inflammatory response" EXACT [] is_a: MP:0001876 ! decreased inflammatory response is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0005088 name: increased acute inflammation def: "greater than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response" [ISBN:0-397-51047-0] synonym: "increased acute inflammatory response" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0005089 name: decreased double-negative T cell number def: "reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8" [ISBN:0-8153-1691-7] synonym: "decreased CD4-CD8- T cell count" EXACT [] synonym: "decreased CD4-CD8- T cell numbers" EXACT [] synonym: "decreased double negative T cell number" EXACT [] synonym: "decreased double-negative T cell count" EXACT [] synonym: "decreased double-negative T cell numbers" EXACT [] synonym: "decreased double-negative T-cell numbers" EXACT [] synonym: "reduced CD4-CD8- T cell count" EXACT [] synonym: "reduced CD4-CD8- T cell numbers" EXACT [] synonym: "reduced double negative T cell number" EXACT [] synonym: "reduced double-negative T cell count" EXACT [] synonym: "reduced double-negative T cell numbers" EXACT [] synonym: "reduced double-negative T-cell numbers" EXACT [] is_a: MP:0002407 ! abnormal double-negative T cell morphology is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0005090 name: increased double-negative T cell number def: "greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8" [ISBN:0-8153-1691-7] synonym: "increased CD4-CD8- T cell count" EXACT [] synonym: "increased double negative T cell number" EXACT [] synonym: "increased double-negative T cell count" EXACT [] synonym: "increased double-negative T cell numbers" EXACT [] synonym: "increased double-negative T-cell numbers" EXACT [] synonym: "increased numbers of CD4-CD8- T cells" EXACT [] synonym: "increased numbers of double-negative T cells" EXACT [] is_a: MP:0002407 ! abnormal double-negative T cell morphology is_a: MP:0005015 ! increased T cell number [Term] id: MP:0005091 name: increased double-positive T cell number def: "greater than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8" [ISBN:0-8153-1691-7] synonym: "increased CD4+CD8+ T cell count" EXACT [] synonym: "increased CD4+CD8+ T cell numbers" EXACT [] synonym: "increased double positive T cell number" EXACT [] synonym: "increased double-positive T cell count" EXACT [] synonym: "increased double-positive T cell numbers" EXACT [] synonym: "increased double-positive T-cell numbers" EXACT [] is_a: MP:0002408 ! abnormal double-positive T cell morphology is_a: MP:0005015 ! increased T cell number [Term] id: MP:0005092 name: decreased double-positive T cell number def: "less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8" [ISBN:0-8153-1691-7] synonym: "decreased CD4+CD8+ T cell count" EXACT [] synonym: "decreased CD4+CD8+ T cell numbers" EXACT [] synonym: "decreased double positive T cell number" EXACT [] synonym: "decreased double-positive T cell count" EXACT [] synonym: "decreased double-positive T cell numbers" EXACT [] synonym: "decreased double-positive T-cell numbers" EXACT [] synonym: "reduced CD4+CD8+ T cell count" EXACT [] synonym: "reduced CD4+CD8+ T cell numbers" EXACT [] synonym: "reduced double positive T cell number" EXACT [] synonym: "reduced double-positive T cell count" EXACT [] synonym: "reduced double-positive T cell numbers" EXACT [] synonym: "reduced double-positive T-cell numbers" EXACT [] is_a: MP:0002408 ! abnormal double-positive T cell morphology is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0005093 name: decreased B cell proliferation def: "absent or reduced expansion rate of the B cell population by cell division in response to stimuli" [MGI:csmith, MGI:cwg] synonym: "B cell hypoproliferation" EXACT [] synonym: "B lymphocyte hypoproliferation" EXACT [] synonym: "decreased B lymphocyte proliferation" EXACT [] synonym: "defective B cell proliferation" EXACT [] synonym: "defective B-cell proliferation" EXACT [] synonym: "impaired B cell proliferation" RELATED [] synonym: "reduced B cell proliferation" EXACT [] synonym: "reduced B lymphocyte proliferation" EXACT [] is_a: MP:0005153 ! abnormal B cell proliferation [Term] id: MP:0005094 name: abnormal T cell proliferation def: "anomaly in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli" [ISBN:0-8153-1691-7] synonym: "abnormal T-cell proliferation" EXACT [] is_a: MP:0001828 ! abnormal T cell activation [Term] id: MP:0005095 name: decreased T cell proliferation def: "reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli" [ISBN:0-8153-1691-7] synonym: "decreased T-cell proliferation" EXACT [] synonym: "impaired T cell proliferation" EXACT [] synonym: "impaired T-cell proliferation" EXACT [] synonym: "reduced T cell proliferation" EXACT [] synonym: "reduced T-cell proliferation" EXACT [] is_a: MP:0005094 ! abnormal T cell proliferation [Term] id: MP:0005096 name: erythroblastosis def: "presence of erythroblasts in great number in the blood" [ISBN:0-683-40008-8] is_a: MP:0011178 ! increased erythroblast number [Term] id: MP:0005097 name: polychromatophilia def: "condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains" [ISBN:0-683-40008-8, J:305] synonym: "polychromasia" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0005098 name: abnormal choroid morphology def: "any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [ISBN:0-683-40008-8] synonym: "choroid dysplasia" EXACT [] is_a: MP:0005196 ! abnormal posterior uvea morphology [Term] id: MP:0005099 name: abnormal ciliary body morphology def: "any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "ciliary body abnormalities" EXACT [] is_a: MP:0005194 ! abnormal anterior uvea morphology [Term] id: MP:0005100 name: abnormal choroid pigmentation def: "anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [ISBN:0-683-40008-8] synonym: "abnormal uveal pigmentation" EXACT [] is_a: MP:0001324 ! abnormal eye pigmentation is_a: MP:0005098 ! abnormal choroid morphology [Term] id: MP:0005101 name: abnormal ciliary body pigmentation def: "anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [ISBN:0-683-40008-8] is_a: MP:0005200 ! abnormal eye pigment epithelium morphology [Term] id: MP:0005102 name: abnormal iris pigmentation def: "anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001322 ! abnormal iris morphology is_a: MP:0001324 ! abnormal eye pigmentation [Term] id: MP:0005103 name: abnormal retinal pigmentation def: "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0005201 ! abnormal retinal pigment epithelium morphology [Term] id: MP:0005104 name: abnormal tarsal bone morphology def: "any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones" [ISBN:0-683-40008-8, ISBN-13:978-0028454405] comment: Note that humans only have seven tarsal bones, while rodents have eight. The tibiale is not present in humans. synonym: "abnormal tarsals morphology" EXACT [] synonym: "abnormal tarsus morphology" EXACT [] synonym: "tarsal bone dysplasia" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology is_a: MP:0002115 ! abnormal limb bone morphology [Term] id: MP:0005105 name: abnormal middle ear ossicle morphology alt_id: MP:0003738 def: "any structural anomaly of the three small bones of the middle ear" [ISBN:0-683-40008-8] synonym: "abnormal middle ear bone morphology" EXACT [] synonym: "abnormal middle ear ossicles morphology" EXACT [] synonym: "middle ear bone abnormalities" EXACT [] synonym: "middle ear ossicle dysplasia" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology is_a: MP:0002116 ! abnormal craniofacial bone morphology [Term] id: MP:0005106 name: abnormal incus morphology def: "any structural anomaly of the middle of the three auditory ossicles" [ISBN:0-683-40008-8] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0005107 name: abnormal stapes morphology def: "any structural anomaly of the smallest and innermost of the three auditory ossicles" [ISBN:0-683-40008-8] synonym: "abnormal stapes" EXACT [] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0005108 name: abnormal ulna morphology def: "any structural anomaly of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "ulna dysplasia" EXACT [] is_a: MP:0003855 ! abnormal forelimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0005109 name: abnormal talus morphology def: "any structural anomaly of the bone that articulates with the tibia and fibula" [ISBN:0-683-40008-8] synonym: "abnormal ankle bone morphology" BROAD [] synonym: "abnormal astragalus morphology" EXACT [] synonym: "talus dysplasia" EXACT [] is_a: MP:0005104 ! abnormal tarsal bone morphology [Term] id: MP:0005110 name: absent talus def: "absence of the bone that articulates with the tibia and fibula" [ISBN:0-683-40008-8] is_a: MP:0005109 ! abnormal talus morphology [Term] id: MP:0005111 name: hyperdipsia def: "intense thirst that is relatively temporary" [ISBN:0-683-40008-8, J:83217] is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0005112 name: abnormal spinal cord ventral horn morphology def: "any structural anomaly of the ventral grey column of the spinal cord" [ISBN:0-683-40008-8] comment: Note that the synonym anterior column may refer to either the grey matter ventral horn or the white matter ventral column in the spinal cord. The synonym anterior horn may also refer to a region of the brain lateral ventricles. synonym: "abnormal anterior column morphology" EXACT [] synonym: "abnormal anterior horn morphology" EXACT [] synonym: "abnormal ventral horn morphology" EXACT [] xref: MA:0001134 is_a: MP:0008503 ! abnormal spinal cord grey matter morphology [Term] id: MP:0005113 name: decreased spinal cord ventral horn cell number def: "fewer than the expected number of cells in the ventral grey column of the spinal cord" [ISBN:0-683-40008-8] comment: The synonym anterior horn may also refer to a region of the brain lateral ventricles. synonym: "decreased anterior column cell number" EXACT [] synonym: "decreased anterior horn cell number" EXACT [] synonym: "decreased number of anterior horn cells" EXACT [] synonym: "decreased spinal cord anterior horn cell number" EXACT [] synonym: "reduced anterior horn cell number" EXACT [] is_a: MP:0005112 ! abnormal spinal cord ventral horn morphology [Term] id: MP:0005114 name: premature hair loss def: "release of fur at an earlier than expected time" [MGI:cwg] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0005116 name: abnormal circulating pituitary hormone level alt_id: MP:0005115 def: "aberration in the blood concentration of any of the hormones secreted by the pituitary" [MGI:cwg] synonym: "abnormal circulating level of pituitary hormone" EXACT [] synonym: "abnormal serum level of pituitary hormone" EXACT [] is_a: MP:0003965 ! abnormal pituitary hormone level is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0005117 name: increased circulating pituitary hormone level def: "greater than expected concentration of any of the pituitary hormones in the blood" [MGI:cwg] synonym: "increased serum level of pituitary hormone" EXACT [] is_a: MP:0003973 ! increased pituitary hormone level is_a: MP:0005116 ! abnormal circulating pituitary hormone level [Term] id: MP:0005118 name: decreased circulating pituitary hormone level def: "less than expected concentration of any of the pituitary hormones found in the blood" [MGI:cwg] synonym: "decreased serum levels of pituitary hormone" EXACT [] synonym: "reduced circulating pituitary hormone level" EXACT [] is_a: MP:0003972 ! decreased pituitary hormone level is_a: MP:0005116 ! abnormal circulating pituitary hormone level [Term] id: MP:0005119 name: decreased circulating thyroid-stimulating hormone level def: "reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland" [ISBN:0-683-40008-8] synonym: "decreased serum levels of thyroid-stimulating hormone" EXACT [] synonym: "decreased serum levels of thyropic hormone" EXACT [] synonym: "decreased serum levels of thyrotrophin" EXACT [] synonym: "decreased serum levels of thyrotropin" EXACT [] synonym: "decreased serum levels of TSH" EXACT [] synonym: "reduced circulating thyroid-stimulating hormone" EXACT [] is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005134 ! decreased thyroid-stimulating hormone level [Term] id: MP:0005120 name: decreased circulating growth hormone level def: "less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization" [ISBN:0-683-40008-8] synonym: "decreased serum levels of GH" EXACT [] synonym: "decreased serum levels of growth hormone" EXACT [] synonym: "decreased serum levels of pituitary growth hormone" EXACT [] synonym: "decreased serum levels of somatotropic hormone" EXACT [] synonym: "decreased serum levels of somatropin" EXACT [] synonym: "reduced circulating growth hormone level" RELATED [] is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005136 ! decreased growth hormone level [Term] id: MP:0005121 name: decreased circulating prolactin level def: "less than expected blood concentration of the hormone that stimulates milk secretion" [ISBN:0-683-40008-8] synonym: "decreased circulating mammotropin level" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased serum levels of galactopoietic hormone" EXACT [] synonym: "decreased serum levels of lactation hormone" EXACT [] synonym: "decreased serum levels of lactogenic hormone" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased serum levels of lactotropin" EXACT [] synonym: "decreased serum levels of mammotropic factor" EXACT [] synonym: "decreased serum levels of mammotropic hormone" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased serum levels of PRL" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased serum levels of prolactin" EXACT [] synonym: "hypoprolacinemia" EXACT [] synonym: "reduced circulating prolactin level" EXACT [] is_a: MP:0003363 ! decreased circulating gonadotropin level is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005138 ! decreased prolactin level [Term] id: MP:0005122 name: increased circulating thyroid-stimulating hormone level def: "greater amount in the blood of the hormone that stimulates the growth and function of the thyroid gland" [ISBN:0-683-40008-8] synonym: "increased serum levels of thyroid-stimulating hormone" EXACT [] synonym: "increased serum levels of thyrotrophin" EXACT [] synonym: "increased serum levels of thyrotropic hormone" EXACT [] synonym: "increased serum levels of thyrotropin" EXACT [] synonym: "increased serum levels of TSH" EXACT [] is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005135 ! increased thyroid-stimulating hormone level [Term] id: MP:0005123 name: increased circulating growth hormone level def: "greater than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization" [ISBN:0-683-40008-8] synonym: "increased serum levels of GH" EXACT [] synonym: "increased serum levels of growth hormone" EXACT [] synonym: "increased serum levels of pituitary growth hormone" EXACT [] synonym: "increased serum levels of somatotropic hormone" EXACT [] synonym: "increased serum levels of somatotropin" EXACT [] is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005137 ! increased growth hormone level [Term] id: MP:0005124 name: increased circulating prolactin level def: "greater than expected blood concentration of the hormone that stimulates milk secretion" [ISBN:0-683-40008-8] synonym: "hyperprolacinemia" EXACT [] synonym: "increased serum levels of galactopoietic hormone" EXACT [] synonym: "increased serum levels of lactation hormone" EXACT [] synonym: "increased serum levels of lactogenic hormone" EXACT [] synonym: "increased serum levels of lactotropin" EXACT [] synonym: "increased serum levels of mammotropic factor" EXACT [] synonym: "increased serum levels of mammotropic hormone" EXACT [] synonym: "increased serum levels of PRL" EXACT [] synonym: "increased serum levels of prolactin" EXACT [] is_a: MP:0003362 ! increased circulating gonadotropin level is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005139 ! increased prolactin level [Term] id: MP:0005128 name: decreased adrenocorticotropin level def: "decreased concentration of adrenocorticotropic hormone" [ISBN:0-683-40008-8] synonym: "decreased level of ACTH" EXACT [] synonym: "decreased level of adrenocorticotropic hormone" EXACT [] synonym: "decreased level of adrenocorticotropin" EXACT [] synonym: "decreased level of adrenotropic hormone" EXACT [] synonym: "decreased level of adrenotropin" EXACT [] synonym: "decreased pituitary levels of ACTH" NARROW [] synonym: "decreased pituitary levels of adrenocorticotropin" NARROW [] synonym: "reduced adrenocorticotropin level" EXACT [] is_a: MP:0003966 ! abnormal adrenocorticotropin level is_a: MP:0003972 ! decreased pituitary hormone level [Term] id: MP:0005129 name: increased adrenocorticotropin level def: "increased concentration of adrenocorticotropic hormone" [ISBN:0-683-40008-8] synonym: "increased level of ACTH" EXACT [] synonym: "increased level of adrenocorticotropic hormone" EXACT [] synonym: "increased level of adrenocorticotropin" EXACT [] synonym: "increased level of adrenotropic hormone" EXACT [] synonym: "increased level of adrenotropin" EXACT [] synonym: "increased pituitary levels of ACTH" NARROW [] synonym: "increased pituitary levels of adrenocorticotropin" NARROW [] is_a: MP:0003966 ! abnormal adrenocorticotropin level is_a: MP:0003973 ! increased pituitary hormone level [Term] id: MP:0005130 name: decreased follicle stimulating hormone level def: "less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis" [ISBN:0-683-40008-8] synonym: "decreased pituitary levels of follicle stimulating hormone" EXACT [] synonym: "decreased pituitary levels of FSH" EXACT [] synonym: "reduced follicle stimulating hormone level" EXACT [] is_a: MP:0003967 ! abnormal follicle stimulating hormone level is_a: MP:0003972 ! decreased pituitary hormone level [Term] id: MP:0005131 name: increased follicle stimulating hormone level def: "greater than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis" [ISBN:0-683-40008-8] synonym: "increased pituitary levels of follicle stimulating hormone" EXACT [] synonym: "increased pituitary levels of FSH" EXACT [] is_a: MP:0003967 ! abnormal follicle stimulating hormone level is_a: MP:0003973 ! increased pituitary hormone level [Term] id: MP:0005132 name: decreased luteinizing hormone level def: "lower than normal concentration of LH" [ISBN:0-683-40008-8] synonym: "decreased pituitary levels of LH" NARROW [] synonym: "decreased pituitary levels of luteinizing hormone" NARROW [] synonym: "reduced luteinizing hormone level" EXACT [] is_a: MP:0003969 ! abnormal luteinizing hormone level is_a: MP:0003972 ! decreased pituitary hormone level [Term] id: MP:0005133 name: increased luteinizing hormone level def: "higher than normal levels of LH" [ISBN:0-683-40008-8] synonym: "increased pituitary levels of LH" EXACT [] synonym: "increased pituitary levels of luteinizing hormone" EXACT [] is_a: MP:0003969 ! abnormal luteinizing hormone level is_a: MP:0003973 ! increased pituitary hormone level [Term] id: MP:0005134 name: decreased thyroid-stimulating hormone level def: "reduced amount of the hormone that stimulates the growth and function of the thyroid gland" [ISBN:0-683-40008-8] synonym: "decreased pituitary levels of thyroid-stimulating hormone" NARROW [] synonym: "decreased pituitary levels of TSH" NARROW [] synonym: "decreased thyropic hormone level" EXACT [] synonym: "decreased thyrotrophin level" EXACT [] synonym: "decreased thyrotropin level" EXACT [] synonym: "decreased TSH level" EXACT [] synonym: "reduced thyroid-stimulating hormone level" EXACT [] is_a: MP:0003971 ! abnormal thyroid-stimulating hormone level is_a: MP:0003972 ! decreased pituitary hormone level [Term] id: MP:0005135 name: increased thyroid-stimulating hormone level def: "greater amount of the hormone that stimulates the growth and function of the thyroid gland" [ISBN:0-683-40008-8] synonym: "increased pituitary levels of thyroid-stimulating hormone" NARROW [] synonym: "increased pituitary levels of TSH" NARROW [] synonym: "increased thyropic hormone level" EXACT [] synonym: "increased thyrotrophin level" EXACT [] synonym: "increased thyrotropin level" EXACT [] synonym: "increased TSH level" EXACT [] is_a: MP:0003971 ! abnormal thyroid-stimulating hormone level is_a: MP:0003973 ! increased pituitary hormone level [Term] id: MP:0005136 name: decreased growth hormone level def: "less than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization" [ISBN:0-683-40008-8] synonym: "decreased level of GH" EXACT [] synonym: "decreased level of growth hormone" EXACT [] synonym: "decreased level of pituitary growth hormone" EXACT [] synonym: "decreased level of somatotropic hormone" EXACT [] synonym: "decreased level of somatotropin" EXACT [] synonym: "decreased pituitary levels of GH" NARROW [] synonym: "decreased pituitary levels of growth hormone" NARROW [] synonym: "reduced growth hormone level" EXACT [] is_a: MP:0003968 ! abnormal growth hormone level is_a: MP:0003972 ! decreased pituitary hormone level [Term] id: MP:0005137 name: increased growth hormone level def: "greater than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization" [ISBN:0-683-40008-8] synonym: "increased level of GH" EXACT [] synonym: "increased level of growth hormone" EXACT [] synonym: "increased level of pituitary growth hormone" EXACT [] synonym: "increased level of somatotropic hormone" EXACT [] synonym: "increased level of somatotropin" EXACT [] synonym: "increased pituitary levels of GH" NARROW [] synonym: "increased pituitary levels of growth hormone" NARROW [] is_a: MP:0003968 ! abnormal growth hormone level is_a: MP:0003973 ! increased pituitary hormone level [Term] id: MP:0005138 name: decreased prolactin level def: "less than expected concentration of the hormone that stimulates milk secretion" [ISBN:0-683-40008-8] synonym: "decreased galactopoietic hormone level" EXACT [] synonym: "decreased lactation hormone level" EXACT [] synonym: "decreased lactogenic hormone level" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased lactotropin level" EXACT [] synonym: "decreased mammotropic factor level" EXACT [] synonym: "decreased mammotropic hormone level" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased mammotropin level" EXACT [MESH:D06.472.699.322.576.773] synonym: "decreased pituitary levels of PRL" NARROW [] synonym: "decreased pituitary levels of prolactin" NARROW [] synonym: "decreased PRL level" EXACT [MESH:D06.472.699.322.576.773] synonym: "reduced prolactin level" EXACT [] is_a: MP:0003970 ! abnormal prolactin level is_a: MP:0003972 ! decreased pituitary hormone level [Term] id: MP:0005139 name: increased prolactin level def: "greater than expected concentration of the hormone that stimulates milk secretion" [ISBN:0-683-40008-8] synonym: "increased galactopoietic hormone level" EXACT [] synonym: "increased lactation hormone level" EXACT [] synonym: "increased lactogenic hormone level" EXACT [MESH:D06.472.699.322.576.773] synonym: "increased lactotropin level" EXACT [] synonym: "increased mammotropic factor level" EXACT [] synonym: "increased mammotropic hormone level" EXACT [MESH:D06.472.699.322.576.773] synonym: "increased mammotropin level" EXACT [MESH:D06.472.699.322.576.773] synonym: "increased pituitary levels of PRL" NARROW [] synonym: "increased pituitary levels of prolactin" NARROW [] synonym: "increased PRL level" EXACT [MESH:D06.472.699.322.576.773] is_a: MP:0003970 ! abnormal prolactin level is_a: MP:0003973 ! increased pituitary hormone level [Term] id: MP:0005140 name: decreased cardiac muscle contractility alt_id: MP:0002974 def: "inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume" [ISBN:0-683-40008-8] synonym: "decreased cardiac muscle contraction" EXACT [] synonym: "impaired cardiac contractility" EXACT [] synonym: "impaired cardiac muscle contractility" EXACT [] synonym: "reduced cardiac contractility" EXACT [] synonym: "reduced cardiac muscle contractility" EXACT [] synonym: "reduced fractional shortening (FS)" NARROW [] synonym: "reduced peak of aortic outflow velocity (PAV)" NARROW [] synonym: "reduced velocity of circumferential fiber shortening (Vcfc)" NARROW [] synonym: "reduced ventricular ejection fraction volume" NARROW [] is_a: MP:0000738 ! impaired muscle contractility is_a: MP:0002972 ! abnormal cardiac muscle contractility [Term] id: MP:0005141 name: liver hyperplasia def: "overdevelopment or increased size of the liver, usually due an increased number of cells" [ISBN:0-683-40008-8, J:33827] synonym: "hepatic hyperplasia" EXACT [] synonym: "hyperplastic liver" EXACT [] is_a: MP:0000599 ! enlarged liver [Term] id: MP:0005144 name: abnormal circulating VLDL cholesterol level def: "any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue" [MGI:csmith] synonym: "abnormal VLDL cholesterol level" EXACT [] is_a: MP:0000180 ! abnormal circulating cholesterol level is_a: MP:0010330 ! abnormal circulating lipoprotein level [Term] id: MP:0005145 name: increased circulating VLDL cholesterol level def: "greater amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue" [MGI:csmith] synonym: "elevated circulating VLDL cholesterol level" EXACT [] synonym: "elevated VLDL cholesterol level" EXACT [] synonym: "increased VLDL cholesterol level" EXACT [] is_a: MP:0005144 ! abnormal circulating VLDL cholesterol level is_a: MP:0005178 ! increased circulating cholesterol level [Term] id: MP:0005146 name: decreased circulating VLDL cholesterol level def: "reduced amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue" [MGI:csmith] synonym: "decreased VLDL cholesterol level" EXACT [] synonym: "low circulating VLDL cholesterol level" EXACT [] synonym: "low VLDL cholesterol level" EXACT [] synonym: "reduced VLDL cholesterol level" EXACT [] is_a: MP:0005144 ! abnormal circulating VLDL cholesterol level is_a: MP:0005179 ! decreased circulating cholesterol level [Term] id: MP:0005147 name: prostate gland hypoplasia def: "underdevelopment or reduced size of the prostate, usually due to a reduced number of cells" [ISBN:0-683-40008-8] synonym: "hypoplastic prostate gland" EXACT [] is_a: MP:0002774 ! small prostate gland [Term] id: MP:0005148 name: seminal vesicle hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of one of the two folded, sac shaped glands that is a diverticulum of the ductus deferens" [ISBN:0-683-40008-8, J:64337] synonym: "hypoplastic seminal gland" EXACT [] synonym: "hypoplastic seminal vesicle" EXACT [] synonym: "seminal gland hypoplasia" EXACT [] is_a: MP:0001157 ! small seminal vesicle [Term] id: MP:0005149 name: abnormal gubernaculum morphology def: "any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus" [ISBN:0-683-40008-8] synonym: "abnormal gubernaculae" EXACT [] synonym: "gubernaculum dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology is_a: MP:0005504 ! abnormal ligament morphology [Term] id: MP:0005150 name: cachexia def: "general weight loss and wasting occurring in the course of chronic disease" [ISBN:0-683-40008-8] synonym: "emaciation" EXACT [] synonym: "wasting" EXACT [] is_a: MP:0001263 ! weight loss [Term] id: MP:0005151 name: diffuse hepatic necrosis def: "disseminated pathologic death of cells within the liver" [ISBN:0-683-40008-8, J:20450] synonym: "diffuse liver necrosis" EXACT [] is_a: MP:0001654 ! hepatic necrosis [Term] id: MP:0005152 name: pancytopenia def: "reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood" [ISBN:0-683-40008-8, J:20450] is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0005153 name: abnormal B cell proliferation def: "anomaly in the ability of the B cell population to undergo rapid expansion by cell division in response to stimuli" [MGI:csmith, MGI:cwg] synonym: "abnormal B lymphocyte proliferation" EXACT [] synonym: "abnormal B-cell proliferation" EXACT [] is_a: MP:0008217 ! abnormal B cell activation [Term] id: MP:0005154 name: increased B cell proliferation def: "greater than normal expansion rate of the B cell population by cell division in response to stimuli" [MGI:csmith, MGI:cwg] synonym: "B cell hyperproliferation" EXACT [] synonym: "B-cell hyperproliferation" EXACT [] synonym: "enhanced B cell proliferation" EXACT [] synonym: "enhanced B-cell proliferation" EXACT [] synonym: "increased B-cell proliferation" EXACT [] is_a: MP:0005153 ! abnormal B cell proliferation [Term] id: MP:0005155 name: herniated intestine def: "protrusion of any portion of the intestine from its normal anatomical position" [ISBN:0-683-40008-8] synonym: "intestinal hernia" EXACT [] synonym: "intestinal herniation" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0005156 name: bradykinesia def: "decreased spontaneity and movement, without external stimulus" [ISBN:0-683-40008-8, J:83301] synonym: "bradycinesia" EXACT [] synonym: "hypokinesia" EXACT [] synonym: "reduced spontaneous movement" EXACT [] is_a: MP:0001388 ! abnormal stationary movement is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0005157 name: holoprosencephaly alt_id: Fyler:4338 def: "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0005158 name: ovary hypoplasia alt_id: MP:0003583 def: "underdevelopment or reduced size of the ovaries, usually due to a reduced number of cells" [ISBN:0-683-40008-8, J:78931] synonym: "hypoplastic ovaries" EXACT [] synonym: "hypoplastic ovary" EXACT [] synonym: "ovarian hypoplasia" EXACT [] synonym: "rudimentary ovary" EXACT [] is_a: MP:0001127 ! small ovary [Term] id: MP:0005159 name: azoospermia def: "a condition where there is no measurable level of spermatozoa in the semen" [MGI:llw2] synonym: "absence of sperm" EXACT [] synonym: "absent sperm" EXACT [] synonym: "aspermia" EXACT [] is_a: MP:0001117 ! absent gametes is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0002673 ! abnormal sperm number is_a: MP:0004901 ! decreased male germ cell number [Term] id: MP:0005161 name: hematuria def: "presence of blood in the urine" [ISBN:0-683-40008-8] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0005162 name: carpoptosis def: "paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve" [ISBN:0-683-40008-8] synonym: "carpoptosia" EXACT [] synonym: "drop hand" EXACT [] synonym: "drop wrist" EXACT [] synonym: "wrist drop" EXACT [] is_a: MP:0000753 ! paralysis [Term] id: MP:0005163 name: cyclopia def: "a congenital defect in which the two orbits are united to form a single cavity containing one eye" [ISBN:0-683-40008-8] synonym: "cyclopea" EXACT [] synonym: "one eye" EXACT [] synonym: "synophthalmia" EXACT [] synonym: "synophthalmus" EXACT [] is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0005164 name: abnormal response to injury def: "anomaly in the body's reaction to trauma, especially that by physical means" [ISBN:0-683-40008-8] is_a: MP:0005376 ! homeostasis/metabolism phenotype [Term] id: MP:0005165 name: increased susceptibility to injury def: "greater than the normal reaction to trauma, especially that by physical means" [ISBN:0-683-40008-8] synonym: "decreased resistance to injury" EXACT [] synonym: "increased response to injury" EXACT [] is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0005166 name: decreased susceptibility to injury def: "less than the normal reaction to trauma, especially that by physical means" [ISBN:0-683-40008-8] synonym: "decreased response to injury" EXACT [] synonym: "increased resistance to injury" EXACT [] synonym: "reduced susceptibility to injury" EXACT [] is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0005167 name: abnormal blood-brain barrier function def: "anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood" [ISBN:0-683-40008-8] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0005168 name: abnormal female meiosis def: "anomaly in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell" [ISBN:0-683-40008-8] xref: GO:0007143 is_a: MP:0001930 ! abnormal meiosis is_a: MP:0001931 ! abnormal oogenesis [Term] id: MP:0005169 name: abnormal male meiosis def: "anomaly in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [ISBN:0-683-40008-8] xref: GO:0007140 is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0005170 name: cleft lip alt_id: Fyler:4875 def: "defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences" [MESH:C07.465.409.225] subset: CvDC_Terms subset: Europhenome_Terms subset: Sanger_Terms synonym: "cheiloschisis" EXACT [] synonym: "harelip" EXACT [] is_a: MP:0003771 ! abnormal lip shape [Term] id: MP:0005171 name: absent coat pigmentation def: "fur or hair is devoid of coloration and appears white" [MGI:cwg] synonym: "absent fur pigmentation" RELATED [] synonym: "absent hair pigmentation" EXACT [] synonym: "albino coat" EXACT [] synonym: "lack of coat pigmentation" EXACT [] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0005172 name: decreased eye pigmentation def: "the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism" [MGI:llw2] synonym: "reduced eye pigmentation" EXACT [] is_a: MP:0001324 ! abnormal eye pigmentation is_a: MP:0005408 ! hypopigmentation [Term] id: MP:0005174 name: abnormal tail pigmentation def: "anomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:cwg, MGI:llw2] synonym: "tail pigmentation abnormalities" EXACT [] is_a: MP:0002095 ! abnormal skin pigmentation is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0005175 name: non-pigmented tail tip def: "lack of color at the end of the tail" [MGI:cwg] is_a: MP:0005174 ! abnormal tail pigmentation [Term] id: MP:0005176 name: eyelids fail to open def: "eyes remain shut when eyelids are expected to be open" [J:83500, MGI:cwg] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. subset: Europhenome_Terms subset: Sanger_Terms synonym: "closed eyes" EXACT [] synonym: "eyelids don't open" EXACT [] synonym: "eyes fail to open" EXACT [] is_a: MP:0004874 ! abnormal timing of postnatal eyelid opening [Term] id: MP:0005178 name: increased circulating cholesterol level alt_id: MP:0001550 alt_id: MP:0002615 def: "greater than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated total circulating cholesterol level" EXACT [] synonym: "elevated total plasma cholesterol level" EXACT [] synonym: "elevated total serum cholesterol level" EXACT [] synonym: "high serum cholesterol level" EXACT [] synonym: "hypercholesterolemia" EXACT [] synonym: "increased total circulating cholesterol level" EXACT [] synonym: "increased total plasma cholesterol level" EXACT [] synonym: "increased total serum cholesterol level" EXACT [] is_a: MP:0000180 ! abnormal circulating cholesterol level is_a: MP:0003982 ! increased cholesterol level [Term] id: MP:0005179 name: decreased circulating cholesterol level alt_id: MP:0002616 def: "less than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased total circulating cholesterol level" EXACT [] synonym: "decreased total plasma cholesterol level" EXACT [] synonym: "decreased total serum cholesterol level" EXACT [] synonym: "hypocholesterolemia" EXACT [] synonym: "low total circulating cholesterol level" EXACT [] synonym: "low total plasma cholesterol level" EXACT [] synonym: "low total serum cholesterol level" EXACT [] synonym: "reduced circulating cholesterol level" EXACT [] is_a: MP:0000180 ! abnormal circulating cholesterol level is_a: MP:0003983 ! decreased cholesterol level [Term] id: MP:0005180 name: abnormal circulating testosterone level def: "anomaly in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal circulating level of testosterone" EXACT [] is_a: MP:0009819 ! abnormal circulating androgen level is_a: MP:0011385 ! abnormal testosterone level [Term] id: MP:0005181 name: decreased circulating estradiol level def: "less than the normal blood concentration of this most potent naturally occurring estrogen in mammals" [ISBN:0-683-40008-8] synonym: "decreased serum estradiol level" EXACT [] synonym: "reduced circulating estradiol level" EXACT [] synonym: "reduced serum estradiol level" EXACT [] is_a: MP:0003371 ! decreased circulating estrogen level is_a: MP:0005183 ! abnormal circulating estradiol level [Term] id: MP:0005182 name: increased circulating estradiol level def: "greater than the normal blood concentration of this most potent naturally occurring estrogen in mammals" [ISBN:0-683-40008-8] synonym: "elevated serum estradiol level" EXACT [] synonym: "increased serum estradiol level" EXACT [] is_a: MP:0003370 ! increased circulating estrogen level is_a: MP:0005183 ! abnormal circulating estradiol level [Term] id: MP:0005183 name: abnormal circulating estradiol level def: "aberration in the blood concentration of this most potent estrogen" [MGI:cwg] synonym: "abnormal circulating level of estradiol" EXACT [] is_a: MP:0003369 ! abnormal circulating estrogen level [Term] id: MP:0005184 name: abnormal circulating progesterone level def: "anomaly in the blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy" [ISBN:0-683-40008-8] synonym: "abnormal circulating level of progesterone" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0011384 ! abnormal progesterone level [Term] id: MP:0005185 name: decreased circulating progesterone level def: "reduced blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy" [ISBN:0-683-40008-8] synonym: "decreased serum progesterone level" NARROW [] synonym: "reduced circulating progesterone level" EXACT [] synonym: "reduced serum progesterone level" NARROW [] is_a: MP:0005184 ! abnormal circulating progesterone level [Term] id: MP:0005186 name: increased circulating progesterone level def: "increased blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy" [ISBN:0-683-40008-8] synonym: "elevated serum progesterone level" EXACT [] synonym: "increased serum progesterone level" EXACT [] is_a: MP:0005184 ! abnormal circulating progesterone level [Term] id: MP:0005187 name: abnormal penis morphology def: "any structural anomaly of the organ of copulation and urination in the male" [ISBN:0-683-40008-8] synonym: "penis dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology is_a: MP:0009199 ! abnormal external male genitalia morphology [Term] id: MP:0005188 name: small penis def: "reduced size of the organ of copulation and urination in the male" [ISBN:0-683-40008-8] synonym: "micropenis" EXACT [] synonym: "microphallus" EXACT [] is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0005189 name: abnormal anogenital distance def: "in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus" [MGI:cwg] synonym: "abnormal ano-genital distance" EXACT [] is_a: MP:0003315 ! abnormal perineum morphology [Term] id: MP:0005190 name: osteomyelitis def: "bone inflammation" [ISBN:0-683-40008-8] is_a: MP:0001533 ! abnormal skeleton physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0005191 name: head tilt def: "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [MGI:cwg] is_a: MP:0000436 ! abnormal head movements [Term] id: MP:0005192 name: increased motor neuron number def: "greater than the normal number of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses" [MGI:pvb] synonym: "increased motoneuron number" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0008947 ! increased neuron number [Term] id: MP:0005193 name: abnormal anterior eye segment morphology alt_id: MP:0000095 def: "any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive)" [ISBN:0-683-40008-8, MESH:A09.371.060] synonym: "abnormal anterior segment" EXACT [] synonym: "anterior eye segment dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0005194 name: abnormal anterior uvea morphology def: "any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris" [ISBN:0-683-40008-8] synonym: "anterior uvea abnormalities" EXACT [] synonym: "Haller tunica vascula abnormalities" EXACT [] synonym: "tunica vasculosa bulbosa abnormalities" EXACT [] synonym: "uveal tract abnormalities" BROAD [] synonym: "vascular layer of the eyeball" BROAD [] synonym: "vascular tunic of the eye" BROAD [] synonym: "vasculosa oculi abnormalities" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology is_a: MP:0005197 ! abnormal uvea morphology [Term] id: MP:0005195 name: abnormal posterior eye segment morphology def: "any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive)" [ISBN:0-683-40008-8] synonym: "posterior eye segment dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0005196 name: abnormal posterior uvea morphology def: "any structural anomaly of the rear, or dorsal, portion of the vascular, pigmentary, or middle coat of the eye, includes the choroid" [ISBN:0-683-40008-8] synonym: "posterior uvea abnormalities" EXACT [] synonym: "tunica vasculosa bulbi" EXACT [] synonym: "tunica vasculosa oculi abnormalities" EXACT [] synonym: "uveal tract abnormalities" BROAD [] synonym: "vascular layer of the eyeball" BROAD [] synonym: "vascular tunic of the eye abnormalities" BROAD [] is_a: MP:0002864 ! abnormal ocular fundus morphology is_a: MP:0005197 ! abnormal uvea morphology [Term] id: MP:0005197 name: abnormal uvea morphology def: "any structural anomaly of the pigmented vascular coat of the eyeball, consisting of the iris, ciliary body, and choroid" [MESH:A09.371.894] synonym: "abnormal vascular layer of the eyeball" EXACT [] synonym: "uvea dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0005198 name: abnormal aqueous drainage system morphology def: "any structural anomaly of the structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins" [PMID:8652890] is_a: MP:0005194 ! abnormal anterior uvea morphology [Term] id: MP:0005199 name: abnormal iris pigment epithelium def: "anomaly in the epithelial layer of the iris composed of cells containing pigment granules" [ISBN:0-683-40008-8] is_a: MP:0001322 ! abnormal iris morphology is_a: MP:0005200 ! abnormal eye pigment epithelium morphology [Term] id: MP:0005200 name: abnormal eye pigment epithelium morphology def: "any structural anomaly in the epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules" [MESH:A09.371.670] synonym: "abnormal pigment epithelium of the eye" BROAD [] is_a: MP:0001324 ! abnormal eye pigmentation [Term] id: MP:0005201 name: abnormal retinal pigment epithelium morphology def: "any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules" [MESH:A09.371.670] synonym: "abnormal pigmented retinal epithelium morphology" EXACT [] synonym: "abnormal RPE morphology" EXACT [] is_a: MP:0003727 ! abnormal retinal layer morphology is_a: MP:0005200 ! abnormal eye pigment epithelium morphology [Term] id: MP:0005202 name: lethargy def: "mild impairment of consciousness resulting in reduced alertness and awareness and/or sluggish behavior or inactivity; can be due to generalized brain dysfunction" [ISBN:0-683-40008-8] synonym: "languor" EXACT [] synonym: "listlessness" EXACT [] synonym: "torpidity" EXACT [] synonym: "torpor" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0005203 name: abnormal trabecular meshwork morphology def: "any structural anomaly in the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates" [MESH:A09.371.060.932] is_a: MP:0004221 ! abnormal iridocorneal angle [Term] id: MP:0005204 name: abnormal canal of Schlemm morphology def: "any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation" [ISBN:0-683-40008-8] synonym: "circular sinus abnormalities" EXACT [] synonym: "Fontana canal abnormalities" EXACT [] synonym: "Lauth canal abnormalities" EXACT [] synonym: "Schlemm's canal" EXACT [] synonym: "scleral venous sinus abnormalities" EXACT [] synonym: "sinus circularis abnormalities" EXACT [] synonym: "sinus venosus sclerae abnormalities" EXACT [] synonym: "venous sinus of sclera abnormalities" EXACT [] is_a: MP:0004221 ! abnormal iridocorneal angle [Term] id: MP:0005205 name: abnormal eye anterior chamber morphology def: "any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens" [MESH:A09.371.060.067] subset: Sanger_Terms synonym: "eye anterior chamber abnormalities" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0005206 name: abnormal aqueous humor def: "anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye" [MESH:A09.371.060.067.070] synonym: "abnormal aqueous flare" EXACT [] synonym: "abnormal intraocular fluid" EXACT [] synonym: "aqueous humor abnormalities" EXACT [] is_a: MP:0005205 ! abnormal eye anterior chamber morphology [Term] id: MP:0005207 name: abnormal aqueous vein morphology def: "any structural anomaly of this vessel that receives aqueous humor from the sinus venosus sclerae (canal of Schlemm)" [ISBN:0-683-40008-8] is_a: MP:0004221 ! abnormal iridocorneal angle [Term] id: MP:0005208 name: abnormal iris stroma morphology def: "any structural anomaly of the lamellated vascular connective tissue of the iris" [ISBN:0-683-40008-8] synonym: "abnormal stroma iridis" EXACT [] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0005210 name: disorganized stomach mucosa def: "derangement of the pattern of the mucous layer of the stomach wall" [MGI:csmith] synonym: "disorganized gastric mucosa" EXACT [] is_a: MP:0010792 ! abnormal stomach mucosa morphology [Term] id: MP:0005211 name: increased stomach mucosa thickness def: "greater than the normal depth or width of the of the mucous layer of the stomach wall" [MGI:csmith] synonym: "expanded mucosal thickness of the stomach" EXACT [] synonym: "increased thickness of gastric mucosa" EXACT [] is_a: MP:0010799 ! stomach mucosa hyperplasia [Term] id: MP:0005212 name: immature goblet-like cells in stomach def: "OBSOLETE. unusual appearance of stomach mucosa in which one finds cells resembling those that produce and secrete mucins" [MGI:cwg] is_obsolete: true [Term] id: MP:0005213 name: gastric metaplasia def: "condition in which there is a change of one adult cell type to another adult cell type in the stomach" [PMID:12080087] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0005214 name: regional gastric metaplasia def: "localized areas of the stomach in which there is a change from one adult cell type to another adult cell type" [PMID:12080087] is_a: MP:0005213 ! gastric metaplasia [Term] id: MP:0005215 name: abnormal pancreatic islet morphology alt_id: MP:0001946 alt_id: MP:0005219 def: "any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "abnormal islands of Langerhans morphology" EXACT [] synonym: "abnormal islet of Langerhans" EXACT [] synonym: "abnormal islet of Langerhans morphology" EXACT [] synonym: "islet cell abnormalities" EXACT [] is_a: MP:0009165 ! abnormal endocrine pancreas morphology [Term] id: MP:0005216 name: abnormal pancreatic alpha cell morphology def: "any structural anomaly of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065] synonym: "abnormal glucagon-secreting cell" EXACT [] synonym: "abnormal pancreatic A cell" EXACT [] synonym: "abnormal pancreatic alpha cells" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0005217 name: abnormal pancreatic beta cell morphology def: "any structural anomaly of the cells of the pancreas that secrete insulin" [MESH:A03.734.414.131] synonym: "abnormal insulin-secreting cells" EXACT [] synonym: "abnormal pancreatic B cells" EXACT [] synonym: "abnormal pancreatic beta cells" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0005218 name: abnormal pancreatic delta cell morphology def: "any structural anomaly of the cells found in the pancreas that secrete somatostatin" [MESH:A03.556.875.875.440.854] synonym: "abnormal D cells" EXACT [] synonym: "abnormal pancreatic D cells" BROAD [] synonym: "abnormal pancreatic delta cells" EXACT [] synonym: "abnormal somatostatin-secreting cell morphology" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0005220 name: abnormal exocrine pancreas morphology def: "any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes" [MESH:A03.734.540] synonym: "abnormal exocrine pancreas" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0005221 name: abnormal rostral-caudal axis patterning alt_id: MP:0001703 def: "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [MGI:cwg] synonym: "abnormal anterior-posterior axis patterning" NARROW [] synonym: "abnormal head-tail axis patterning" EXACT [] synonym: "abnormal rostro-caudal axis patterning" EXACT [] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0005222 name: abnormal somite size def: "atypical size of any of the segmental masses along the notochord of the developing embryo" [J:72325] synonym: "irregular somite size" EXACT [] is_a: MP:0001688 ! abnormal somite development [Term] id: MP:0005223 name: abnormal anterior-posterior polarity of the somites def: "anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body" [MGI:cwg, PMID:11641270] synonym: "abnormal ventro-dorsal polarity of the somites" EXACT [] is_a: MP:0001688 ! abnormal somite development [Term] id: MP:0005224 name: abnormal left-right axis symmetry of the somites def: "anomaly in the formation or development of the somites in relation to the left and right sides of the body" [MGI:cwg] synonym: "left-right asymmetry" EXACT [] is_a: MP:0001688 ! abnormal somite development is_a: MP:0001706 ! abnormal left-right axis patterning [Term] id: MP:0005225 name: abnormal vertebrae development def: "anomalous formation of the vertebrae from the sclerotome" [MGI:cwg] is_a: MP:0000137 ! abnormal vertebrae morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0005226 name: abnormal vertebral arch development def: "anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen" [ISBN:0-683-40008-8] synonym: "abnormal dorsal arch development" EXACT [] synonym: "abnormal neural arch development" EXACT [] is_a: MP:0004599 ! abnormal vertebral arch morphology is_a: MP:0005225 ! abnormal vertebrae development [Term] id: MP:0005227 name: abnormal vertebral body development def: "anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch" [ISBN:0-683-40008-8] is_a: MP:0000141 ! abnormal vertebral body morphology is_a: MP:0005225 ! abnormal vertebrae development [Term] id: MP:0005228 name: abnormal fusion of vertebral bodies/neural arches def: "OBSOLETE. improper joining of the main portion of the vertebra anterior to the vertebral canal and the cartilaginous or bony arch that encloses and protects the spinal cord on the back" [ISBN:0-683-40008-8] synonym: "vertebral body/neural arch fusion" EXACT [] is_obsolete: true [Term] id: MP:0005229 name: abnormal intervertebral disk development def: "any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae" [MGI:cwg] synonym: "abnormal intervertebral disc formation" EXACT [] synonym: "abnormal intervertebral disk formation" EXACT [] is_a: MP:0000164 ! abnormal cartilage development is_a: MP:0004173 ! abnormal intervertebral disk morphology is_a: MP:0005225 ! abnormal vertebrae development [Term] id: MP:0005230 name: ectrodactyly def: "absence of the middle rays, i.e., the central digits; usually associated with cleft hands/feet and may also include syndactyly or aplasia of remaining digits" [OMIM:119100] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0005231 name: abnormal brachial lymph node morphology def: "any structural anomaly of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes" [ISBN:0-683-40008-8] synonym: "brachial lymph node abnormalities" EXACT [] synonym: "humeral axillary lymph node abnormalities" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0005232 name: abnormal mesenteric lymph node morphology def: "any structural anomaly of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group" [ISBN:0-683-40008-8] synonym: "mesenteric lymph node abnormalities" EXACT [] is_a: MP:0009625 ! abnormal abdominal lymph node morphology [Term] id: MP:0005235 name: abnormal olfactory pathway morphology def: "OBSOLETE. any structural anomaly of any of the set of nerve fibers conducting impulses from olfactory receptors to the cerebral cortex, including the olfactory nerve; olfactory bulb; olfactory tract, olfactory tubercle, anterior perforated substance, and olfactory cortex" [MESH:A08.186.211.464.699] synonym: "abnormal olfactory pathways" EXACT [] is_obsolete: true [Term] id: MP:0005236 name: abnormal olfactory nerve morphology alt_id: MP:0001057 def: "any structural anomaly of the first cranial nerve, which conveys the sense of smell" [MESH:A08.800.800.120.640] synonym: "abnormal CN-I morphology" EXACT [] synonym: "olfactory nerve abnormalities" BROAD [] synonym: "olfactory nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0005237 name: abnormal olfactory tract morphology def: "any structural anomaly of the nerve-like, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus" [ISBN:0-683-40008-8] synonym: "abnormal olfactory tract" EXACT [] xref: MA:0000975 is_a: MP:0005267 ! abnormal olfactory cortex morphology [Term] id: MP:0005238 name: increased brain size alt_id: MP:0000773 def: "larger than the normal physical proportions of the brain" [J:57958, MGI:cwg] synonym: "enlarged brain" EXACT [] synonym: "larger brain size" EXACT [] synonym: "macroencephaly" EXACT [] is_a: MP:0000771 ! abnormal brain size [Term] id: MP:0005239 name: abnormal Bruch membrane morphology def: "any structural anomaly of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina" [ISBN:0-683-40008-8] synonym: "basal lamina of the choroid abnormalities" EXACT [] synonym: "basal layer of the choroid abnormalities" EXACT [] synonym: "Bruch's membrane abnormalities" EXACT [] synonym: "Henle membrane abnormalities" EXACT [] synonym: "lamina basalis choroidae abnormalities" EXACT [] synonym: "lamina vitrea abnormalities" EXACT [] synonym: "vitreous lamella abnormalities" EXACT [] is_a: MP:0005098 ! abnormal choroid morphology [Term] id: MP:0005240 name: abnormal amacrine cell morphology def: "any structural anomaly of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer" [MESH:A08.663.358.050] synonym: "abnormal amacrine cells" EXACT [] synonym: "abnormal amacrine neuron" EXACT [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0005241 name: abnormal retinal ganglion layer morphology def: "any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [ISBN:0-914294-08-3] synonym: "abnormal GCL morphology" EXACT [] synonym: "abnormal retinal ganglion cell layer" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0005242 name: cryptophthalmos def: "congenital anomaly in which the skin is continuous over the eyeball without any indication of the formation of eyelids" [ISBN:0-683-40008-8] is_a: MP:0001341 ! absent eyelids [Term] id: MP:0005243 name: hemothorax def: "bleeding into the pleural space" [ISBN:0-397-51047-0] synonym: "hematothorax" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0002295 ! abnormal pulmonary circulation [Term] id: MP:0005244 name: hemopericardium alt_id: MP:0000289 def: "bleeding into the pericardial space" [ISBN:0-397-51047-0] synonym: "blood in pericardial cavity" EXACT [] synonym: "hemorrhagic pericardial effusion" EXACT [] synonym: "pericardial hemorrhage" EXACT [] is_a: MP:0005312 ! pericardial effusion is_a: MP:0009698 ! heart hemorrhage [Term] id: MP:0005245 name: hemarthrosis def: "bleeding into a joint space" [ISBN:0-397-51047-0] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0005247 name: abnormal extraocular muscle morphology def: "any structural anomaly of any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi" [MGI:cwg] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0003686 ! abnormal eye muscle morphology [Term] id: MP:0005248 name: abnormal Harderian gland morphology def: "any structural anomaly of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane" [ISBN:0486631850] comment: The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. synonym: "Harderian gland abnormalities" EXACT [] synonym: "Harderian gland dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0005249 name: abnormal palatine bone morphology def: "any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits" [ISBN:0-683-40008-8] synonym: "abnormal palatinium bone" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0005250 name: Sertoli cell hypoplasia def: "decreased number of cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [ISBN:0-683-40008-8] synonym: "decreased sertoli cell number" EXACT [] is_a: MP:0004109 ! abnormal Sertoli cell development [Term] id: MP:0005251 name: blepharitis def: "inflammation of the eyelids" [MESH:C11.338.133] synonym: "inflamed eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology is_a: MP:0001851 ! eye inflammation [Term] id: MP:0005252 name: abnormal meibomian gland morphology def: "any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid" [ISBN:0-683-40008-8] synonym: "abnormal tarsal gland" RELATED [] synonym: "meibomian gland dysplasia" EXACT [] is_a: MP:0000647 ! abnormal sebaceous gland morphology is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0005253 name: abnormal eye physiology def: "any functional anomaly and/or activity of the spheroid organ and optic nerve that serves to detect light" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0005391 ! vision/eye phenotype [Term] id: MP:0005254 name: strabismus def: "misalignment of the visual axes of the eyes" [MESH:C10.292.562.887] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0005255 name: exotropia def: "a form of ocular misalignment in which the lateral rectus muscle pulls the eye in an outward direction" [MESH:C10.292.562.887.650] is_a: MP:0005254 ! strabismus [Term] id: MP:0005256 name: esotropia def: "a form of ocular misalignment in which there is excessive convergence of the visual axes, giving a cross-eyed appearance" [MESH:C11.590.810.400] synonym: "cross eyed" EXACT [] is_a: MP:0005254 ! strabismus [Term] id: MP:0005257 name: abnormal intraocular pressure def: "anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye" [ISBN:0-683-40008-8] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0005258 name: ocular hypertension alt_id: MP:0005259 def: "abnormal elevation of the intraocular pressure" [MESH:C11.525] is_a: MP:0005257 ! abnormal intraocular pressure [Term] id: MP:0005260 name: ocular hypotension def: "abnormally low intraocular pressure" [MESH:C11.540] is_a: MP:0005257 ! abnormal intraocular pressure [Term] id: MP:0005261 name: aniridia def: "abnormality in which there is only a rudimentary iris, due to the failure of optic cup growth" [MESH:C11.250.060] is_a: MP:0001286 ! abnormal eye development is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0005262 name: coloboma alt_id: Fyler:4311 def: "anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation" [MESH:C11.250.110] subset: CvDC_Terms is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0005263 name: ectopia lentis def: "congenital displacement of the lens due to defective zonule formation" [MESH:C11.250.300] synonym: "lens displacement" EXACT [] is_a: MP:0001286 ! abnormal eye development is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0005264 name: glomerulosclerosis def: "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [ISBN:0-683-40008-8] synonym: "glomerular sclerosis" EXACT [] is_a: MP:0000523 ! cortical renal glomerulopathies [Term] id: MP:0005265 name: abnormal blood urea nitrogen level def: "aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [ISBN:0-683-40008-8] synonym: "abnormal blood urea nitrogen" EXACT [] synonym: "abnormal BUN" EXACT [] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0005266 name: abnormal metabolism def: "any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation" [GO:0008152] subset: Europhenome_Terms synonym: "abnormal metabolic process" EXACT [] synonym: "metabolic abnormalities" EXACT [] is_a: MP:0005376 ! homeostasis/metabolism phenotype [Term] id: MP:0005267 name: abnormal olfactory cortex morphology def: "any structural anomaly of cortex area which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors" [ISBN:0-683-40008-8] synonym: "olfactory cortex dysplasia" EXACT [] xref: MA:0000193 is_a: MP:0009944 ! abnormal olfactory lobe morphology [Term] id: MP:0005269 name: abnormal occipital bone morphology def: "any structural anomaly of the bone at the lower, posterior part of the skull" [ISBN:0-683-40008-8] synonym: "occipital bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0005270 name: abnormal zygomatic bone morphology def: "any structural anomaly of the quadrilateral bone that forms the prominence of the cheek" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "abnormal cheek bone morphology" EXACT [] synonym: "abnormal jugal bone morphology" EXACT [] synonym: "abnormal malar bone morphology" EXACT [] synonym: "abnormal yoke bone morphology" EXACT [] synonym: "zygomatic bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0005271 name: abnormal lacrimal bone morphology def: "any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla" [ISBN:0-683-40008-8] synonym: "lacrimal bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0005272 name: abnormal temporal bone morphology def: "any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous" [ISBN:0-683-40008-8] synonym: "abnormal squamosal bone morphology" BROAD [] synonym: "temporal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0005274 name: abnormal viscerocranium morphology def: "any structural anomaly of the part of the skull that comprises the facial bones" [ISBN:0-683-40008-8] synonym: "abnormal facial bones morphology" EXACT [] synonym: "viscerocranium dysplasia" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0005275 name: abnormal skin tensile strength def: "change from the normal maximum tension the skin can withstand without tearing" [ISBN:0-683-40008-8] is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0005277 name: abnormal brainstem morphology def: "any structural anomaly of the midbrain, pons, or medulla" [J:82670, MGI:pvb] synonym: "abnormal brain stem morphology" EXACT [] synonym: "brainstem dysplasia" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0005278 name: abnormal cholesterol homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of cholesterol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [GO:0042632, MGI:csmith] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0005279 name: narcolepsy def: "recurring episodes of sleep during normal waking hours and often disrupted sleep during normal sleeping period; often accompanied by cataplexy, sleep paralysis and hallucinations" [ISBN:0-683-40008-8] is_a: MP:0001501 ! abnormal sleep pattern [Term] id: MP:0005280 name: abnormal fatty acid level def: "any anomaly in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated" [CHEBI:24024] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0005281 name: increased fatty acid level def: "elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated" [CHEBI:24024] synonym: "elevated fatty acid level" EXACT [] is_a: MP:0005280 ! abnormal fatty acid level [Term] id: MP:0005282 name: decreased fatty acid level def: "reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated" [CHEBI:24024] synonym: "lowered fatty acid level" EXACT [] synonym: "reduced fatty acid level" EXACT [] is_a: MP:0005280 ! abnormal fatty acid level [Term] id: MP:0005283 name: increased unsaturated fatty acid level def: "elevated concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms" [CHEBI:24024, ISBN:0-683-40008-8] synonym: "elevated unsaturated fatty acid level" EXACT [] is_a: MP:0005281 ! increased fatty acid level [Term] id: MP:0005284 name: increased saturated fatty acid level def: "elevated concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms" [CHEBI:24024, ISBN:0-683-40008-8] synonym: "elevated saturated fatty acid level" EXACT [] is_a: MP:0005281 ! increased fatty acid level [Term] id: MP:0005285 name: decreased unsaturated fatty acid level def: "reduced concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms" [CHEBI:24024, ISBN:0-683-40008-8] synonym: "lowered unsaturated fatty acid level" EXACT [] synonym: "reduced unsaturated fatty acid level" EXACT [] is_a: MP:0005282 ! decreased fatty acid level [Term] id: MP:0005286 name: decreased saturated fatty acid level def: "reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms" [CHEBI:24024, ISBN:0-683-40008-8] synonym: "lowered saturated fatty acid level" EXACT [] synonym: "reduced saturated fatty acid level" EXACT [] is_a: MP:0005282 ! decreased fatty acid level [Term] id: MP:0005287 name: narrow eye opening def: "less than the normal distance from one eyelid to the other without fusion of the eyelid margins" [MGI:cwg] subset: Sanger_Terms synonym: "blepharophimosis" EXACT [] synonym: "blepharostenosis" EXACT [] synonym: "closer eyelid folds" EXACT [] synonym: "closer roots of eyelids" EXACT [] synonym: "narrow palpebral fissure" EXACT [] synonym: "reduced palpebral fissure size" EXACT [] synonym: "slit eyes" EXACT [] synonym: "small eyelid aperture" EXACT [] is_a: MP:0003671 ! abnormal eyelid aperture [Term] id: MP:0005288 name: abnormal oxygen consumption def: "deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body" [MESH:G06.535.723] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0005289 name: increased oxygen consumption def: "greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body" [MESH:G06.535.723] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0005288 ! abnormal oxygen consumption [Term] id: MP:0005290 name: decreased oxygen consumption def: "less than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body" [MESH:G06.535.723] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced oxygen consumption" EXACT [] is_a: MP:0005288 ! abnormal oxygen consumption [Term] id: MP:0005291 name: abnormal glucose tolerance def: "deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MESH:C18.452.394.952.500] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0005292 name: improved glucose tolerance def: "better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MESH:C18.452.394.952.500] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased glucose clearance" RELATED [] synonym: "increased glucose tolerance" EXACT [] is_a: MP:0005291 ! abnormal glucose tolerance [Term] id: MP:0005293 name: impaired glucose tolerance def: "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MESH:C18.452.394.952.500] subset: Europhenome_Terms subset: Sanger_Terms synonym: "glucose intolerance" EXACT [] synonym: "poor glucose tolerance" EXACT [] synonym: "reduced glucose tolerance" EXACT [] is_a: MP:0005291 ! abnormal glucose tolerance [Term] id: MP:0005294 name: abnormal heart ventricle morphology def: "any structural anomaly of one or both of the two lower chambers of the heart" [MESH:A07.541.560, MGI:cwg] synonym: "heart ventricle dysplasia" EXACT [] synonym: "ventricular dysplasia" BROAD [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0005296 name: abnormal humerus morphology def: "any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "humerus dysplasia" EXACT [] is_a: MP:0003854 ! abnormal forelimb stylopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0005297 name: spina bifida occulta def: "common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges" [MESH:C10.500.680.800.750] synonym: "closed spinal bifida" EXACT [] synonym: "occult spina bifida" EXACT [] is_a: MP:0003054 ! spina bifida is_a: MP:0005226 ! abnormal vertebral arch development [Term] id: MP:0005298 name: abnormal clavicle morphology def: "any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal collar bone morphology" EXACT [] synonym: "clavicle dysplasia" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology is_a: MP:0004508 ! abnormal pectoral girdle bone morphology [Term] id: MP:0005299 name: abnormal eye posterior chamber def: "anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly" [ISBN:0-683-40008-8] synonym: "eye posterior chamber abnormalities" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0005300 name: abnormal corneal stroma morphology def: "any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes" [ISBN:0-683-40008-8, MESH:A09.371.060.217.228] subset: Sanger_Terms is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0005301 name: abnormal corneal endothelium morphology def: "any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea" [MESH:A09.371.060.067.318] subset: Sanger_Terms is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0005302 name: neurogenic bladder def: "defective functioning of the bladder due to impaired innervation, either within the CNS or the PNS" [ISBN:0-683-40008-8] synonym: "neuropathic bladder" EXACT [] is_a: MP:0002184 ! abnormal innervation is_a: MP:0010386 ! abnormal urinary bladder physiology [Term] id: MP:0005304 name: cystic bulbourethral gland def: "presence of membrane-lined sacs containing gas, fluid, or semisolid matter in the gland in males that lies along the prostate gland and secretes a fluid component of the seminal fluid into the urethra" [ISBN:0-683-40008-8] synonym: "cystic Cowper's gland" EXACT [] is_a: MP:0001169 ! abnormal bulbourethral gland morphology [Term] id: MP:0005305 name: prostate gland anterior lobe hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the anterior lobe of the prostate" [ISBN:0-683-40008-8] synonym: "AP hyperplasia" EXACT [] synonym: "CG hyperplasia" EXACT [] synonym: "coagulating gland hyperplasia" EXACT [] synonym: "hyperplastic coagulating gland" EXACT [] is_a: MP:0001163 ! abnormal prostate gland anterior lobe morphology [Term] id: MP:0005306 name: abnormal phalanx morphology def: "any structural anomaly of any of the long bones of the digits" [ISBN:0-683-40008-8] synonym: "abnormal phalanges morphology" EXACT [] synonym: "abnormal phalanxes morphology" EXACT [] synonym: "phalanges dysplasia" EXACT [] is_a: MP:0002110 ! abnormal digit morphology is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0005307 name: head tossing def: "compulsive flailing of the head in multiple directions" [MGI:csmith] is_a: MP:0000436 ! abnormal head movements is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0005308 name: abnormal circulating ammonia level def: "aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition" [ISBN:0-683-40008-8] synonym: "abnormal ammonia level" BROAD [] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0005309 name: increased circulating ammonia level def: "significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy" [ISBN:0-683-40008-8] synonym: "hyperammonemia" BROAD [] synonym: "increased ammonia concentration" RELATED [] synonym: "increased ammonia level" BROAD [] is_a: MP:0005308 ! abnormal circulating ammonia level [Term] id: MP:0005310 name: abnormal salivary gland physiology def: "any functional anomaly of any of the glands in the mouth that secrete saliva" [MESH:A03.556.500.760] synonym: "abnormal salivary gland function" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0005311 name: abnormal circulating amino acid level def: "any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group" [CHEBI:33709] synonym: "abnormal blood amino acid level" EXACT [] is_a: MP:0005332 ! abnormal amino acid level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0005312 name: pericardial effusion alt_id: Fyler:1940 def: "escape of fluid from blood vessels or lymphatic vessels into the fibrous sac surrounding the heart" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "dropsy of pericardium" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0005313 name: absent adrenal gland def: "absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla" [ISBN:0-683-40008-8] synonym: "absence of adrenal glands" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0005314 name: absent thyroid gland def: "missing endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin" [ISBN:0-683-40008-8, J:30559] synonym: "absence of thyroid gland" EXACT [] is_a: MP:0004663 ! athyroidism [Term] id: MP:0005315 name: absent pituitary gland def: "missing gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [ISBN:0-683-40008-8, J:30559] synonym: "absence of pituitary gland" EXACT [] is_a: MP:0000633 ! abnormal pituitary gland morphology [Term] id: MP:0005316 name: abnormal response to tactile stimuli def: "anomaly in the reflex action normally induced by touch or pain" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0005317 name: increased triglyceride level def: "higher than normal concentration of triacylglycerols" [ISBN:0-683-40008-8] synonym: "elevated triglyceride level" EXACT [] is_a: MP:0000187 ! abnormal triglyceride level [Term] id: MP:0005318 name: decreased triglyceride level def: "lower than normal concentration of triacylglycerols" [ISBN:0-683-40008-8] synonym: "low triglyceride level" EXACT [] synonym: "reduced triglyceride level" EXACT [] is_a: MP:0000187 ! abnormal triglyceride level [Term] id: MP:0005319 name: abnormal enzyme/ coenzyme level def: "altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances" [ISBN:0-683-40008-8] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0005320 name: abnormal biopterin level def: "anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions" [ISBN:0-683-40008-8, MESH:D03.438.733.631.202] is_a: MP:0005319 ! abnormal enzyme/ coenzyme level [Term] id: MP:0005321 name: abnormal neopterin level def: "anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection" [ISBN:0-683-40008-8, MESH:D03.438.733.631.202.500] is_a: MP:0005320 ! abnormal biopterin level [Term] id: MP:0005322 name: abnormal serotonin level def: "anomaly in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8, MESH:D02.092.211.215.801.852] synonym: "abnormal 5-HT level" EXACT [] synonym: "abnormal 5-hydroxytryptamine level" EXACT [] synonym: "abnormal enteramine level" EXACT [] synonym: "abnormal hippophaine level" EXACT [] synonym: "abnormal hydroxytryptamine level" EXACT [] synonym: "abnormal serotonin concentration" RELATED [] is_a: MP:0003953 ! abnormal hormone level [Term] id: MP:0005323 name: dystonia def: "impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs" [J:84533] is_a: MP:0003313 ! abnormal locomotor activation is_a: MP:0004142 ! abnormal muscle tone [Term] id: MP:0005324 name: ascites def: "accumulation or retention of fluid within the peritoneal cavity" [ISBN:0-683-40008-8] is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0005325 name: abnormal renal glomerulus morphology def: "any structural anomaly of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit" [ISBN:0-683-40008-8] synonym: "abnormal glomerular tuft morphology" EXACT [] synonym: "abnormal glomeruli morphology" EXACT [] synonym: "abnormal kidney glomerulus morphology" EXACT [] synonym: "abnormal malpighian glomerulus morphology" EXACT [] synonym: "abnormal malpighian tuft morphology" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology [Term] id: MP:0005326 name: abnormal podocyte morphology def: "any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal glomerular epithelial cells" EXACT [] synonym: "abnormal podocytes" EXACT [] synonym: "abnormal visceral epithelial cell" EXACT [] is_a: MP:0011497 ! abnormal glomerular capsule visceral layer morphology [Term] id: MP:0005327 name: abnormal mesangial cell morphology def: "any structural anomaly of the modified smooth muscle cells that are interposed between endothelial cells and the basement membrane in the central or stalk region of the capillary tuft of the renal glomerulus, which regulate blood flow by their contractile activity, and secrete extracellular matrix, prostaglandins, and cytokines; mesangial cells also have phagocytic activity, removing proteins and other molecules trapped in the glomerular basement membrane or filtration barrier" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnormal deep cell" EXACT [] synonym: "abnormal intercapillary cell" EXACT [] synonym: "abnormal intraglomerular mesangial cell" EXACT [] is_a: MP:0011339 ! abnormal glomerular mesangium morphology [Term] id: MP:0005328 name: abnormal circulating creatinine level def: "anomaly in the blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [ISBN:0-683-40008-8] synonym: "abnormal creatinine level" EXACT [] is_a: MP:0005311 ! abnormal circulating amino acid level [Term] id: MP:0005329 name: abnormal myocardium layer morphology def: "any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers" [ISBN:0-683-40008-8] comment: Do not confuse cardiac muscle tissue with the myocardium. Myocardium consists primarily of cardiac muscle but these structures are not identical. subset: CvDC_Terms synonym: "abnormal myocardium morphology" EXACT [] synonym: "myocardial dysplasia" EXACT [] is_a: MP:0010545 ! abnormal heart layer morphology [Term] id: MP:0005330 name: cardiomyopathy alt_id: Fyler:1840 def: "diseases of the heart (myocardium); may result from many causes" [MESH:C14.280.238, MGI:cwg, MGI:pvb] subset: CvDC_Terms is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0005331 name: insulin resistance def: "diminished effectiveness of insulin in lowering plasma glucose levels" [ISBN:0-683-40008-8, MGI:pvb] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0005332 name: abnormal amino acid level def: "any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group" [CHEBI:33709] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0005333 name: decreased heart rate def: "fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute" [MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "bradycardia" EXACT [] synonym: "bradyrhythmia" EXACT [] synonym: "reduced heart rate" EXACT [] is_a: MP:0001629 ! abnormal heart rate [Term] id: MP:0005334 name: abnormal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue" [MGI:cwg] synonym: "abnormal fat body morphology" EXACT [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0005335 name: abnormal gonadal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the ovaries or testes" [J:84541, MGI:cwg] synonym: "abnormal gonadal fat depot morphology" EXACT [] synonym: "abnormal perigonadal fat pad morphology" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0005336 name: abnormal inguinal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue found in the groin" [J:84541, MGI:cwg] synonym: "abnormal inguinal fat depot morphology" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0005337 name: abnormal retroperitoneal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue found on the dorsal side of the peritoneum" [J:84541, MGI:cwg] synonym: "abnormal retroperitoneal fat depot morphology" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0005338 name: atherosclerotic lesions def: "thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow" [ISBN:0-683-40008-8, MESH:C14.907.137.126.307] synonym: "atherosclerosis" EXACT [] is_a: MP:0003991 ! arteriosclerosis [Term] id: MP:0005339 name: increased susceptibility to atherosclerosis def: "more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [MGI:cwg] synonym: "decreased resistance to atherosclerosis" EXACT [] is_a: MP:0005340 ! altered susceptibility to atherosclerosis [Term] id: MP:0005340 name: altered susceptibility to atherosclerosis def: "a change in the likelihood that an organism will develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [MGI:cwg] synonym: "abnormal resistance to atherosclerosis" EXACT [] is_a: MP:0005338 ! atherosclerotic lesions [Term] id: MP:0005341 name: decreased susceptibility to atherosclerosis alt_id: MP:0002701 def: "less likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [MGI:cwg] synonym: "increased resistance to atherosclerosis" EXACT [] synonym: "reduced susceptibility to atherosclerosis" EXACT [] is_a: MP:0005340 ! altered susceptibility to atherosclerosis [Term] id: MP:0005342 name: abnormal intestinal lipid absorption def: "any anomaly in the ability of the body to take up lipids into the blood by absorption from the small intestine" [MGI:csmith] synonym: "abnormal lipid absorption" RELATED [] is_a: MP:0001666 ! abnormal intestinal absorption is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0005343 name: increased circulating aspartate transaminase level def: "greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [ISBN:0-683-40008-8, MGI:pvb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated aspartate transaminase level" EXACT [] synonym: "elevated AST level" EXACT [] synonym: "elevated circulating AAT level" EXACT [] synonym: "elevated circulating ASAT level" EXACT [] synonym: "elevated circulating aspartate transaminase level" EXACT [] synonym: "elevated circulating serum glutamic oxaloacetic transaminase level" EXACT [] synonym: "elevated circulating SGOT level" EXACT [] synonym: "increased AST level" EXACT [] synonym: "increased circulating AAT level" EXACT [] synonym: "increased circulating ASAT level" EXACT [] synonym: "increased circulating aspartate aminotransferase level" EXACT [] synonym: "increased circulating serum glutamic oxaloacetic transaminase level" EXACT [] synonym: "increased circulating SGOT level" EXACT [] is_a: MP:0000203 ! abnormal circulating aspartate transaminase level [Term] id: MP:0005344 name: increased circulating bilirubin level def: "increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells" [ISBN:0-683-40008-8, MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "elevated bilirubin level" EXACT [] synonym: "elevated circulating bilirubin level" EXACT [] synonym: "hyperbilirubinemia" NARROW [] is_a: MP:0001569 ! abnormal circulating bilirubin level [Term] id: MP:0005345 name: abnormal circulating corticosterone level def: "anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal serum level of corticosterone" EXACT [] is_a: MP:0003366 ! abnormal circulating glucocorticoid level is_a: MP:0003963 ! abnormal corticosterone level [Term] id: MP:0005346 name: abnormal circulating aldosterone level def: "anomaly in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule" [ISBN:0-683-40008-8] synonym: "abnormal serum level of aldosterone" NARROW [] is_a: MP:0003372 ! abnormal circulating mineralocorticoid level is_a: MP:0011415 ! abnormal aldosterone level [Term] id: MP:0005348 name: increased T cell proliferation def: "increase in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "enhanced T cell proliferation" EXACT [] synonym: "enhanced T-cell proliferation" EXACT [] synonym: "increased T-cell proliferation" EXACT [] synonym: "T cell hyperproliferation" EXACT [] synonym: "T-cell hyperproliferation" EXACT [] is_a: MP:0005094 ! abnormal T cell proliferation [Term] id: MP:0005349 name: abnormal interleukin-6 physiology def: "OBSOLETE. functional anomaly of this soluble factor produced by B- and T-cells, with effects on T- and B-cell growth and differentiation, and in acute phase reactions" [ISBN:0-8153-1691-7] comment: This term is obsolete. Instead, use the terms abnormal circulating interleukin-6 level (MP:0008595) and its children or abnormal interleukin-6 secretion (MP:0008704) and its children. synonym: "abnormal IL-6 physiology" EXACT [] is_obsolete: true consider: MP:0008595 consider: MP:0008704 [Term] id: MP:0005350 name: increased susceptibility to autoimmune disorder def: "greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides" [MESH:C20.111, MGI:cwg] synonym: "decreased resistance to autoimmune disorder" EXACT [] is_a: MP:0002425 ! altered susceptibility to autoimmune disorder [Term] id: MP:0005351 name: decreased susceptibility to autoimmune disorder def: "reduced likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides" [MESH:C20.111, MGI:cwg] synonym: "increased resistance to autoimmune disorder" EXACT [] synonym: "reduced susceptibility to autoimmune disorder" EXACT [] is_a: MP:0002425 ! altered susceptibility to autoimmune disorder [Term] id: MP:0005352 name: small cranium def: "reduced size of the cranium" [MGI:cwg] synonym: "decreased cranium size" EXACT [] synonym: "decreased skull size" RELATED [] synonym: "reduced cranium size" EXACT [] synonym: "reduced skull size" RELATED [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0005353 name: abnormal patella morphology def: "any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee" [ISBN:0-683-40008-8, MGI:cwg] subset: Sanger_Terms synonym: "abnormal kneecap morphology" BROAD [] synonym: "patella dysplasia" EXACT [] is_a: MP:0002115 ! abnormal limb bone morphology [Term] id: MP:0005354 name: abnormal ilium morphology def: "any structural anomaly of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal iliac bone morphology" EXACT [] synonym: "ilium dysplasia" EXACT [] is_a: MP:0004509 ! abnormal pelvic girdle bone morphology [Term] id: MP:0005355 name: enlarged thyroid gland def: "increased size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin" [ISBN:0-683-40008-8, MGI:pvb] synonym: "goiter" NARROW [] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0005356 name: positive geotaxis def: "mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward" [J:79604, MGI:csmith] synonym: "absent negative geotaxis" EXACT [] synonym: "poor negative geotaxis" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0005357 name: novel environmental response-related retropulsion def: "when confronted with a novel stimulus, subjects exhibit involuntary backward walking" [MGI:csmith, PMID:12370287] subset: Europhenome_Terms is_a: MP:0001413 ! abnormal response to new environment is_a: MP:0010323 ! retropulsion [Term] id: MP:0005358 name: abnormal incisor morphology def: "any structural anomaly of the teeth, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw" [MGI:llw2] subset: Sanger_Terms synonym: "abnormal incisors morphology" EXACT [] synonym: "incisor dysplasia" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0005359 name: growth retardation of incisors def: "developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw" [MGI:pvb] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0005360 name: urolithiasis def: "presence of calculi in any part of the urinary system" [ISBN:0-683-40008-8, MGI:pvb] subset: Sanger_Terms is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0005361 name: small pituitary gland def: "reduced size of the pituitary gland, the compound gland suspended from the base of the hypothalamus" [MGI:cwg] synonym: "decreased pituitary gland size" EXACT [] synonym: "reduced pituitary gland size" EXACT [] is_a: MP:0008936 ! abnormal pituitary gland size [Term] id: MP:0005362 name: abnormal Langerhans cell physiology def: "atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus" [CL:0000453, ISBN:0781735149, MGI:csmith] synonym: "abnormal Langerhans cell function" EXACT [] is_a: MP:0002376 ! abnormal dendritic cell physiology [Term] id: MP:0005363 name: decreased susceptibility to prion infection alt_id: MP:0003003 def: "reduced likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component" [MGI:cwg] synonym: "reduced susceptibility to prion infection" EXACT [] synonym: "resistance to prion infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection [Term] id: MP:0005364 name: increased susceptibility to prion infection alt_id: MP:0003004 def: "increased likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component" [MGI:cwg] synonym: "decreased resistance to prion infection" EXACT [] synonym: "susceptibility to prion infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection [Term] id: MP:0005365 name: abnormal bile salt homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:pvb] synonym: "abnormal bile acid homeostasis" RELATED [] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0005366 name: variegated coat color def: "an irregular and random patchwork of two or more colors in the coat" [MGI:llw2] is_a: MP:0000372 ! irregular coat pigmentation [Term] id: MP:0005367 name: renal/urinary system phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005369 name: muscle phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005370 name: liver/biliary system phenotype synonym: "hepatobiliary system phenotype" EXACT [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005371 name: limbs/digits/tail phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005375 name: adipose tissue phenotype def: "the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan" [MGI:csmith] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005376 name: homeostasis/metabolism phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005377 name: hearing/vestibular/ear phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005378 name: growth/size phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005379 name: endocrine/exocrine gland phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005380 name: embryogenesis phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005381 name: digestive/alimentary phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005382 name: craniofacial phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005384 name: cellular phenotype synonym: "cell phenotype" EXACT [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005385 name: cardiovascular system phenotype def: "the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan" [MGI:csmith] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005386 name: behavior/neurological phenotype alt_id: MP:0001350 def: "the observable actions or reactions of mammalian organisms that are manifested through development and lifespan" [MGI:csmith] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005387 name: immune system phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005388 name: respiratory system phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005389 name: reproductive system phenotype synonym: "reproduction phenotype" EXACT [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005390 name: skeleton phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005391 name: vision/eye phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005394 name: taste/olfaction phenotype is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005395 name: other phenotype subset: Europhenome_Terms is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005397 name: hematopoietic system phenotype synonym: "hemopoietic system phenotype" EXACT [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0005398 name: decreased susceptibility to fungal infection def: "reduced likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased susceptibility to mold infection" EXACT [] synonym: "decreased susceptibility to yeast infection" EXACT [] synonym: "increased resistance to fungal infection" EXACT [] synonym: "increased resistance to mold infection" EXACT [] synonym: "increased resistance to yeast infection" EXACT [] synonym: "reduced susceptibility to fungal infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection [Term] id: MP:0005399 name: increased susceptibility to fungal infection def: "greater likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased resistance to fungal infection" EXACT [] synonym: "decreased resistance to mold infection" EXACT [] synonym: "decreased resistance to yeast infection" EXACT [] synonym: "increased susceptibility to mold infection" EXACT [] synonym: "increased susceptibility to yeast infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection [Term] id: MP:0005400 name: abnormal vitamin level def: "any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function" [MESH:D27.505.696.377.605.600, MGI:cwg] is_a: MP:0004019 ! abnormal vitamin homeostasis [Term] id: MP:0005401 name: abnormal fat-soluble vitamin level def: "any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function and which require the presence of lipids for assimilation in the body" [MGI:cwg] is_a: MP:0005400 ! abnormal vitamin level [Term] id: MP:0005402 name: abnormal action potential def: "change in the electric response of a nerve or other excitable tissue to its stimulation" [MGI:csmith] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0005403 name: abnormal nerve conduction def: "anomaly in the act of transmitting electricity along a single nerve" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0002272 ! abnormal nervous system electrophysiology [Term] id: MP:0005404 name: abnormal axon morphology def: "any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body" [ISBN:0-683-40008-8] synonym: "abnormal axonal morphology" EXACT [] synonym: "abnormal nerve fiber morphology" BROAD [] is_a: MP:0008415 ! abnormal neurite morphology [Term] id: MP:0005405 name: axon degeneration def: "retrogressive pathologic change in the single process of a nerve cell" [ISBN:0-683-40008-8] synonym: "axonal degeneration" EXACT [] is_a: MP:0002229 ! neurodegeneration [Term] id: MP:0005406 name: abnormal heart size def: "change from normal in the physical magnitude of the cardiac muscle or any of its component structures" [MGI:cwg] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0005407 name: hyperalgesia def: "increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area)" [MESH:C10.597.751.791.400] synonym: "decreased pain threshold" EXACT [] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0005408 name: hypopigmentation def: "dilution of pigment in any or all tissues or a part of a tissue" [MGI:llw2] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0005409 name: darkened coat color def: "amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased when compared to wild-type agouti" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0005410 name: abnormal fertilization def: "anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0005411 name: delayed fertilization def: "a lag in the normal time of onset of the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0005410 ! abnormal fertilization [Term] id: MP:0005412 name: vascular stenosis def: "a stricture or occlusion of a lumen of vascular tissue" [ISBN:0-683-40008-8] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0005413 name: vascular restenosis def: "recurrence of a narrowing or constriction of a blood vessel following surgical or mechanical removal or reduction of a previous narrowing" [ISBN:0-683-40008-8] is_a: MP:0005412 ! vascular stenosis [Term] id: MP:0005414 name: extrahepatic cholestasis def: "impairment of bile flow in the large bile ducts by mechanical obstruction or stricture due to benign or malignant process" [MESH:C06.130.120.135.150] synonym: "extrahepatic bile duct obstruction" EXACT [] synonym: "extrahepatic bile stasis" EXACT [] synonym: "extrahepatic biliary stasis" EXACT [] is_a: MP:0000610 ! cholestasis [Term] id: MP:0005415 name: intrahepatic cholestasis def: "impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts" [MESH:C06.130.120.135.250] synonym: "intrahepatic bile duct obstruction" EXACT [] synonym: "intrahepatic bile stasis" EXACT [] synonym: "intrahepatic biliary stasis" EXACT [] is_a: MP:0000609 ! abnormal liver physiology is_a: MP:0000610 ! cholestasis [Term] id: MP:0005416 name: abnormal circulating protein level def: "anomaly in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal protein level" BROAD [] is_a: MP:0008469 ! abnormal protein level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0005418 name: abnormal circulating hormone level def: "any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects" [MESH:D06.472, MGI:cwg] is_a: MP:0003953 ! abnormal hormone level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0005419 name: hypoalbuminemia def: "blood serum albumin concentration below the normal range" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0000199 ! abnormal circulating serum albumin level [Term] id: MP:0005421 name: loose skin def: "condition in which the skin hangs in folds" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: Sanger_Terms synonym: "cutis laxa" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0005422 name: osteosclerosis def: "abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone" [ISBN:0-683-40008-8, MGI:cml] synonym: "bone sclerosis" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0005423 name: abnormal somatic nervous system physiology def: "any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs)" [MGI:csmith] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0005424 name: jerky movement def: "continuous, abrupt, faltering motions of the whole body or a portion of the body" [MGI:llw2] synonym: "choreic movement" EXACT [] synonym: "twitching" EXACT [] synonym: "waltzing" EXACT [] is_a: MP:0001516 ! abnormal motor coordination/ balance [Term] id: MP:0005425 name: increased macrophage cell number def: "greater than the normal numbers of macrophages" [MGI:cwg] synonym: "increased macrophage count" RELATED [] synonym: "increased macrophage numbers" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0005426 name: tachypnea def: "rapid breathing" [ISBN:0-683-40008-8, MGI:cwg] synonym: "polypnea" EXACT [] is_a: MP:0005573 ! increased pulmonary respiratory rate [Term] id: MP:0005428 name: abnormal clinical chemistry def: "OBSOLETE. any anomaly in the laboratory tests that show the presence of physiologically significant substances in the blood, urine, tissue, and body fluids with application to the diagnosis or therapy of disease" [MGI:cwg] comment: This term has been rendered obsolete. This really refers to groups of clinical tests and measurements, not the underlying phenotype. is_obsolete: true [Term] id: MP:0005429 name: abnormal pine bedding color after urinary excretion def: "OBSOLETE. with normal urine coloration, a change in the hue of the pine bedding of a mouse, often to a bright yellow or chartreuse, after excretion of urine by the animal housed with this type of bedding; indicative of a metabolic defect" [MGI:csmith, MGI:cwg, MGI:llw2] is_obsolete: true [Term] id: MP:0005430 name: absent fibula def: "missing the lateral and shorter of the two bones of the lower leg" [J:86196, MGI:pvb] synonym: "absence of fibula" EXACT [] is_a: MP:0002187 ! abnormal fibula morphology [Term] id: MP:0005431 name: decreased oocyte number def: "reduced numbers of germ cells in the female" [MGI:cwg, MGI:llw2] synonym: "decreased number of oocytes" EXACT [] synonym: "decreased oocyte cell number" EXACT [] synonym: "female germ cell depletion" EXACT [] synonym: "oocyte depletion" EXACT [] synonym: "reduced number of oocytes" EXACT [] synonym: "reduced oocyte cell number" EXACT [] is_a: MP:0001125 ! abnormal oocyte morphology is_a: MP:0002209 ! decreased germ cell number [Term] id: MP:0005432 name: abnormal pro-B cell morphology def: "any structural anomaly of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith] synonym: "abnormal B cell progenitor" EXACT [] synonym: "abnormal progenitor B cell" EXACT [] synonym: "pro-B cell abnormalities" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation [Term] id: MP:0005433 name: absent early pro-B cells def: "absence of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain" [ISBN:0-8153-1691-7, MGI:pvb] synonym: "deficiency of early pro-B cells" EXACT [] is_a: MP:0005019 ! abnormal early pro-B cell is_a: MP:0008187 ! absent pro-B cells [Term] id: MP:0005434 name: absent late pro-B cells def: "absence of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain" [ISBN:0-8153-1691-7, MGI:pvb] synonym: "deficiency of late pro-B cells" EXACT [] is_a: MP:0005020 ! abnormal late pro-B cell is_a: MP:0008187 ! absent pro-B cells [Term] id: MP:0005435 name: hemoperitoneum def: "blood in the peritoneal cavity" [ISBN:0-683-40008-8, MGI:pvb] synonym: "hematoperitoneum" EXACT [] synonym: "peritoneal cavity hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage [Term] id: MP:0005437 name: abnormal glycogen level def: "any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0005438 ! abnormal glycogen homeostasis [Term] id: MP:0005438 name: abnormal glycogen homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0005439 name: decreased glycogen level def: "less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [ISBN:0-683-40008-8, MGI:cwg] synonym: "reduced glycogen level" EXACT [] is_a: MP:0005437 ! abnormal glycogen level [Term] id: MP:0005440 name: increased glycogen level def: "greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0005437 ! abnormal glycogen level [Term] id: MP:0005441 name: increased urine calcium level def: "abnormally large amounts of calcium in the urine" [ISBN:0-683-40008-8] synonym: "hypercalcinuria" EXACT [] synonym: "hypercalciuria" EXACT [] synonym: "hypercalcuria" EXACT [] is_a: MP:0002985 ! abnormal urine calcium level [Term] id: MP:0005442 name: abnormal pyramidal neuron morphology def: "OBSOLETE. any structural anomaly of the projection neurons in the cerebral cortex and hippocampus" [] synonym: "abnormal pyramidal cell" EXACT [] is_obsolete: true consider: MP:0009940 consider: MP:0009969 [Term] id: MP:0005443 name: abnormal ethanol metabolism def: "altered ability to metabolize the clear, colorless liquid that has formula C2H6O" [CHEBI:16236, MGI:cwg] synonym: "abnormal alcohol metabolism" EXACT [] is_a: MP:0008875 ! abnormal xenobiotic pharmacokinetics [Term] id: MP:0005444 name: abnormal retinol metabolism def: "altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation" [ISBN:0-683-40008-8] synonym: "abnormal vitamin A1 metabolism" EXACT [] is_a: MP:0011233 ! abnormal vitamin A metabolism [Term] id: MP:0005445 name: abnormal neurotransmitter secretion def: "anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell" [GO:0007269, MGI:csmith] synonym: "abnormal neurotransmitter release" EXACT [] synonym: "abnormal synaptic release" EXACT [] is_a: MP:0002204 ! abnormal neurotransmitter level [Term] id: MP:0005446 name: abnormal synaptic epinephrine release def: "aberrant secretion across synapses of the active sympathomimetic hormone that stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [MGI:cwg] synonym: "abnormal synaptic adrenaline release" EXACT [] is_a: MP:0005445 ! abnormal neurotransmitter secretion [Term] id: MP:0005447 name: abnormal synaptic norepinephrine release def: "aberrant secretion across synapses of this widespread central and autonomic neurotransmitter, the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus" [MGI:cwg] is_a: MP:0005445 ! abnormal neurotransmitter secretion [Term] id: MP:0005448 name: abnormal energy balance def: "aberrant intake or expenditure of calories as compared to the normal state" [MGI:cwg] subset: Europhenome_Terms is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0005449 name: abnormal food intake def: "any anomaly in the total number of calories taken in daily when compared to the normal state" [MGI:cwg] subset: Europhenome_Terms synonym: "abnormal calorie consumption" EXACT [] synonym: "abnormal energy intake" EXACT [] synonym: "abnormal food consumption" EXACT [] synonym: "abnormal ingestion" EXACT [] is_a: MP:0001431 ! abnormal eating behavior [Term] id: MP:0005450 name: abnormal energy expenditure def: "utilization of calories that differs from normal" [MGI:cwg] synonym: "abnormal energy metabolism" EXACT [] is_a: MP:0005448 ! abnormal energy balance [Term] id: MP:0005451 name: abnormal body composition def: "any anomaly in the relative amounts of various components of the body, such as percent body fat" [MESH:G06.184.179, MGI:cwg] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0005452 name: abnormal adipose tissue amount def: "more or less than the normal total amount of connective tissue composed of fat cells" [MGI:cwg] synonym: "abnormal body fat amount" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0005455 name: increased susceptibility to weight gain def: "greater increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake" [J:42702, MGI:cwg] synonym: "increased weight gain" RELATED [] is_a: MP:0011117 ! abnormal susceptibility to weight gain [Term] id: MP:0005456 name: weight gain def: "OBSOLETE. increase in weight over existing weight" [MESH:C23.888.144.243.926] is_obsolete: true consider: MP:0001260 consider: MP:0005455 consider: MP:0010182 consider: MP:0011117 [Term] id: MP:0005457 name: abnormal percent body fat def: "more or less fat, relative to controls, as a percentage of total body weight" [MGI:cwg] is_a: MP:0005452 ! abnormal adipose tissue amount [Term] id: MP:0005458 name: increased percent body fat def: "more fat, relative to controls, as a percentage of total body weight" [MGI:cwg] subset: Sanger_Terms is_a: MP:0005457 ! abnormal percent body fat [Term] id: MP:0005459 name: decreased percent body fat def: "less fat, relative to controls, as a percentage of total body weight" [MGI:cwg] subset: Sanger_Terms synonym: "reduced percent body fat" EXACT [] is_a: MP:0005457 ! abnormal percent body fat [Term] id: MP:0005460 name: abnormal leukopoiesis alt_id: MP:0002430 alt_id: MP:0002449 def: "any anomaly in the process of generating white blood cells (leukocytes) from the pluripotent hematopoietic stem cells of the bone marrow; two significant pathways generate various types of leukocytes: myelopoiesis, in which leukocytes in the blood are derived from myeloid stem cells, and lymphopoiesis, in which leukocytes of the lymphatic system (lymphocytes) are generated from lymphoid stem cells" [MESH:G04.335.151.825.597] synonym: "abnormal immune cell development" EXACT [] synonym: "abnormal leukocyte differentiation" EXACT [] synonym: "abnormal leukocyte morphology/development" EXACT [] synonym: "immune cell developmental abnormalities" EXACT [] is_a: MP:0000716 ! abnormal immune system cell morphology is_a: MP:0002123 ! abnormal hematopoiesis [Term] id: MP:0005461 name: abnormal dendritic cell morphology def: "any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation" [ISBN:0781735149, MGI:csmith] comment: Do not confuse with abnormal follicular dendritic cell morphology (MP:0008196). is_a: MP:0008195 ! abnormal antigen presenting cell morphology is_a: MP:0008246 ! abnormal leukocyte morphology [Term] id: MP:0005462 name: abnormal mast cell differentiation def: "atypical production of or inability to produce a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation" [MESH:A.11.329.427] is_a: MP:0000359 ! abnormal mast cell morphology is_a: MP:0001601 ! abnormal myelopoiesis is_a: MP:0008111 ! abnormal granulocyte differentiation [Term] id: MP:0005463 name: abnormal CD4-positive T cell physiology def: "any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:cwg] synonym: "abnormal CD4+ T cell function" EXACT [] synonym: "abnormal CD4+ T cell physiology" EXACT [] synonym: "abnormal single positive T cell physiology" BROAD [] synonym: "CD4+ T cell dysfunction" EXACT [] is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0005464 name: abnormal platelet physiology def: "any functional anomaly of the non-nucleated cells found in the blood and involved in blood coagulation" [MESH:A11.118.188, MGI:cwg] synonym: "abnormal platelet function" EXACT [] synonym: "abnormal thrombocyte physiology" EXACT [] is_a: MP:0001545 ! abnormal hematopoietic system physiology is_a: MP:0002551 ! abnormal blood coagulation [Term] id: MP:0005465 name: abnormal T-helper 1 physiology def: "abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149] synonym: "abnormal helper T cell type 1 function" EXACT [] synonym: "abnormal helper T lymphocyte type 1 function" EXACT [] synonym: "abnormal helper T-cell type 1 function" EXACT [] synonym: "abnormal helper T-lymphocyte type 1 function" EXACT [] synonym: "abnormal T helper 1 function" EXACT [] synonym: "abnormal TH1 cell function" EXACT [] synonym: "T helper 1 functional abnormalities" EXACT [] synonym: "TH1 functional abnormalities" EXACT [] synonym: "Th1 functional abnormalities" EXACT [] is_a: MP:0005463 ! abnormal CD4-positive T cell physiology [Term] id: MP:0005466 name: abnormal T-helper 2 physiology def: "abnormal function of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149] synonym: "abnormal helper T cell type 2 function" EXACT [] synonym: "abnormal helper T lymphocyte type 2 function" EXACT [] synonym: "abnormal helper T-cell type 2 function" EXACT [] synonym: "abnormal helper T-lymphocyte type 2 function" EXACT [] synonym: "abnormal T helper 2 function" EXACT [] synonym: "abnormal T helper 2 physiology" EXACT [] synonym: "abnormal TH2 cell function" EXACT [] synonym: "T helper 2 functional abnormalities" EXACT [] synonym: "TH2 functional abnormalities" EXACT [] synonym: "Th2 functional abnormalities" EXACT [] is_a: MP:0005463 ! abnormal CD4-positive T cell physiology [Term] id: MP:0005467 name: abnormal chemotactic leukotriene physiology def: "OBSOLETE. functional anomaly of any of a subset of leukotrienes that are involved in attracting leukocytes to a site of tissue injury" [MGI:cwg] is_obsolete: true [Term] id: MP:0005468 name: abnormal thyroid hormone level def: "aberrant concentration of any of the hormones secreted by the thyroid gland" [MESH:D06.472.931, MGI:cwg] is_a: MP:0003953 ! abnormal hormone level [Term] id: MP:0005469 name: abnormal thyroxine level def: "any anomaly in the concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism" [MESH:D06.472.931.812, MGI:cwg] synonym: "abnormal T4 level" EXACT [] synonym: "abnormal thyroxin level" EXACT [] is_a: MP:0005468 ! abnormal thyroid hormone level [Term] id: MP:0005470 name: increased thyroxine level def: "greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism" [MESH:D06.472.931.812, MGI:cwg] synonym: "increased T4 level" EXACT [] synonym: "increased thyroxin level" EXACT [] is_a: MP:0005469 ! abnormal thyroxine level [Term] id: MP:0005471 name: decreased thyroxine level def: "less than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism" [MESH:D06.472.931.812, MGI:cwg] synonym: "decreased T4 level" EXACT [] synonym: "decreased thyroxin level" EXACT [] synonym: "reduced T4 level" EXACT [] synonym: "reduced thyroxin level" EXACT [] synonym: "reduced thyroxine level" EXACT [] is_a: MP:0005469 ! abnormal thyroxine level [Term] id: MP:0005472 name: abnormal triiodothyronine level def: "aberrant concentration of this hormone synthesized and secreted by the thyroid; normally, this is the main thyroid hormone used by the tissues" [MESH:D06.472.931.740.385, MGI:cwg] synonym: "abnormal T3 level" EXACT [] is_a: MP:0005468 ! abnormal thyroid hormone level [Term] id: MP:0005473 name: decreased triiodothyronine level def: "less than the normal concentration of this hormone synthesized and secreted by the thyroid; normally, this is the main thyroid hormone used by the tissues" [MESH:D06.472.931.740.385, MGI:cwg] synonym: "decreased T3 level" EXACT [] synonym: "reduced T3 level" EXACT [] synonym: "reduced triiodothyronine level" EXACT [] is_a: MP:0005472 ! abnormal triiodothyronine level [Term] id: MP:0005474 name: increased triiodothyronine level def: "greater than the normal concentration of this hormone synthesized and secreted by the thyroid; normally, this is the main thyroid hormone used by the tissues" [MESH:D06.472.931.740.385, MGI:cwg] synonym: "increased T3 level" EXACT [] is_a: MP:0005472 ! abnormal triiodothyronine level [Term] id: MP:0005475 name: abnormal circulating thyroxine level def: "anomaly in the blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism" [MESH:D06.472.931.812, MGI:cwg] synonym: "abnormal circulating level of T4" EXACT [] synonym: "abnormal circulating level of thryoxin" EXACT [] synonym: "abnormal circulating level of thryoxine" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0005469 ! abnormal thyroxine level [Term] id: MP:0005476 name: abnormal circulating triiodothyronine level def: "aberration in the blood concentration of a hormone synthesized and secreted by the thyroid that is the main thyroid hormone used by the tissues" [MESH:D06.472.931.740.385, MGI:cwg] synonym: "abnormal circulating level of T3" EXACT [] synonym: "abnormal circulating level of triiodothyronine" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0005472 ! abnormal triiodothyronine level [Term] id: MP:0005477 name: increased circulating thyroxine level def: "greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism" [MESH:D06.472.931.812, MGI:cwg] subset: Sanger_Terms synonym: "increased circulating level of T4" EXACT [] synonym: "increased circulating level of thyroxin" EXACT [] synonym: "increased circulating level of thyroxine" EXACT [] is_a: MP:0003350 ! increased circulating levels of thyroid hormone is_a: MP:0005470 ! increased thyroxine level is_a: MP:0005475 ! abnormal circulating thyroxine level [Term] id: MP:0005478 name: decreased circulating thyroxine level def: "reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism" [MESH:D06.472.931.812, MGI:cwg] subset: Sanger_Terms synonym: "decreased circulating level of T4" EXACT [] synonym: "decreased circulating level of thyroxin" EXACT [] synonym: "decreased circulating level of thyroxine" EXACT [] synonym: "reduced circulating thyroxine level" EXACT [] is_a: MP:0003351 ! decreased circulating levels of thyroid hormone is_a: MP:0005471 ! decreased thyroxine level is_a: MP:0005475 ! abnormal circulating thyroxine level [Term] id: MP:0005479 name: decreased circulating triiodothyronine level def: "less than the normal blood concentration of a hormone synthesized and secreted by the thyroid that is the main thyroid hormone used by the tissues" [MESH:D06.472.931.740.385, MGI:cwg] synonym: "decreased circulating level of T3" EXACT [] synonym: "decreased circulating level of triiodothyronine" EXACT [] synonym: "reduced circulating triiodothyronine level" EXACT [] is_a: MP:0003351 ! decreased circulating levels of thyroid hormone is_a: MP:0005473 ! decreased triiodothyronine level is_a: MP:0005476 ! abnormal circulating triiodothyronine level [Term] id: MP:0005480 name: increased circulating triiodothyronine level def: "greater than the normal blood concentration of a hormone synthesized and secreted by the thyroid that is the main thyroid hormone used by the tissues" [MESH:D06.472.931.740.385, MGI:cwg] synonym: "increased circulating level of T3" EXACT [] synonym: "increased circulating level of triiodothyronine" EXACT [] is_a: MP:0003350 ! increased circulating levels of thyroid hormone is_a: MP:0005474 ! increased triiodothyronine level is_a: MP:0005476 ! abnormal circulating triiodothyronine level [Term] id: MP:0005481 name: chronic myelocytic leukemia def: "a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages" [ISBN:0-683-40008-8] synonym: "chronic granulocytic leukemia" EXACT [] synonym: "chronic myelogenous leukemia" EXACT [] synonym: "chronic myeloid leukemia" EXACT [] synonym: "CML" EXACT [] is_a: MP:0002026 ! leukemia [Term] id: MP:0005482 name: cellular hypertrophy def: "OBSOLETE. increased size or bulk of a cell, without accompanying increased numbers" [MGI:cwg] is_obsolete: true [Term] id: MP:0005483 name: cellular hyperplasia def: "OBSOLETE. an increase in the number of cells in an organ or tissue" [MGI:cwg] is_obsolete: true [Term] id: MP:0005485 name: cellular dysplasia def: "OBSOLETE. change in the size, shape, and organization of the cellular components of a tissue" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true [Term] id: MP:0005486 name: cellular metaplasia def: "OBSOLETE. conversion of one differentiated cell type to another" [ISBN:0-397-51047-0] is_obsolete: true [Term] id: MP:0005487 name: cellular hypoplasia def: "OBSOLETE. a decrease in the number of cells in an organ or tissue" [MGI:cwg] is_obsolete: true [Term] id: MP:0005488 name: bronchial epithelial hyperplasia def: "increased numbers of cells lining the inner surfaces of the bronchi" [MGI:cwg] is_a: MP:0010943 ! abnormal bronchus epithelium morphology [Term] id: MP:0005489 name: vascular smooth muscle cell hyperplasia def: "increased numbers of smooth muscle cells in the vascular wall" [MGI:cwg] is_a: MP:0005592 ! abnormal vascular smooth muscle morphology [Term] id: MP:0005490 name: increased Clara cell number def: "increased numbers of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium" [ISBN:0-683-40008-8] synonym: "Clara cell hyperplasia" EXACT [] synonym: "increased bronchiolar exocrine cell number" EXACT [] is_a: MP:0010809 ! abnormal Clara cell morphology [Term] id: MP:0005491 name: pancreatic islet hyperplasia def: "overdevelopment or increased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an increased number of cells" [J:48446, MESH:A03.734.414] is_a: MP:0009171 ! enlarged pancreatic islets [Term] id: MP:0005492 name: exocrine pancreas hypoplasia def: "underdevelopment or reduced size of the portion of the pancreas that secretes digestive enzymes, usually due to a decreased cell number" [MESH:A03.734.540] synonym: "decreased exocrine pancreas cellularity" RELATED [] synonym: "exocrine pancreatic hypoplasia" EXACT [] is_a: MP:0005220 ! abnormal exocrine pancreas morphology is_a: MP:0009111 ! pancreas hypoplasia [Term] id: MP:0005493 name: stomach epithelial hyperplasia def: "overdevelopment or increased size, usually due to an increase in the number of cells, of the epithelial layer of the stomach" [MGI:csmith] synonym: "gastric epithelial hyperplasia" EXACT [] is_a: MP:0000471 ! abnormal stomach epithelium morphology [Term] id: MP:0005494 name: esophagogastric junction metaplasia def: "conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach" [ISBN:0-683-40008-8] synonym: "G-E junction metaplasia" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology is_a: MP:0005213 ! gastric metaplasia [Term] id: MP:0005497 name: optic nerve cupping def: "concave shape of the nerve often as a result of the force of pressure from glaucoma" [MGI:cwg] synonym: "cupping of optic nerve" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0005498 name: hyporesponsive to tactile stimuli alt_id: MP:0001979 def: "reduced reflex action normally induced by touch or pain" [MGI:cwg] subset: Europhenome_Terms synonym: "decreased pain responsiveness in tail flick test" EXACT [] synonym: "tactile hypoalgesia" RELATED [] is_a: MP:0003043 ! hypoalgesia is_a: MP:0005316 ! abnormal response to tactile stimuli [Term] id: MP:0005499 name: abnormal olfactory system morphology def: "any structural anomaly of the organs involved in smell" [MGI:cwg] synonym: "olfactory system dysplasia" EXACT [] is_a: MP:0005394 ! taste/olfaction phenotype [Term] id: MP:0005500 name: abnormal gustatory system morphology def: "any structural anomaly of the organs involved in taste" [ISBN:0-683-40008-8] synonym: "gustatory system dysplasia" EXACT [] is_a: MP:0005394 ! taste/olfaction phenotype [Term] id: MP:0005501 name: abnormal skin physiology def: "any functional anomaly of the membranous protective covering of the body" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0010771 ! integument phenotype [Term] id: MP:0005502 name: abnormal renal/urinary system physiology def: "any functional anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism" [MGI:csmith] synonym: "abnormal urinary system function" EXACT [] is_a: MP:0005367 ! renal/urinary system phenotype [Term] id: MP:0005503 name: abnormal tendon morphology def: "any structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures" [MESH:A02.880] synonym: "tendon dysplasia" RELATED [] is_a: MP:0002108 ! abnormal muscle morphology is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0005504 name: abnormal ligament morphology def: "any structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones" [J:45509, MESH:A02.513] synonym: "ligament dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0005505 name: increased platelet cell number def: "greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased platelet count" EXACT [] synonym: "increased thrombocyte number" RELATED [] synonym: "thrombocytosis" EXACT [] is_a: MP:0004720 ! abnormal platelet morphology is_a: MP:0011181 ! increased hematopoietic cell number [Term] id: MP:0005506 name: abnormal limbs/digits/tail physiology def: "OBSOLETE. functional anomaly of the digits, paws, limbs, or tail" [MGI:cwg] is_obsolete: true [Term] id: MP:0005507 name: tail dragging def: "pulling the tail along with difficulty or effort; may be due to paralysis or weakness" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001391 ! abnormal tail movements [Term] id: MP:0005508 name: abnormal skeleton morphology alt_id: MP:0000055 def: "any structural anomaly of the bony framework of the body in vertebrates" [ISBN:0-683-40008-8] synonym: "abnormal bone/ skeleton" EXACT [] synonym: "bone/ skeletal abnormalities" EXACT [] is_a: MP:0005390 ! skeleton phenotype [Term] id: MP:0005515 name: uveitis def: "inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina)" [MESH:C11.941.879, RGD:cur] is_a: MP:0001851 ! eye inflammation is_a: MP:0005197 ! abnormal uvea morphology [Term] id: MP:0005516 name: increased liver regeneration def: "greater than the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [MGI:cwg, RGD:cur] synonym: "enhanced liver regeneration" EXACT [] synonym: "increased hepatic regeneration" EXACT [] is_a: MP:0002658 ! abnormal liver regeneration [Term] id: MP:0005517 name: decreased liver regeneration def: "less than the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [MGI:cwg, RGD:cur] synonym: "decreased hepatic regeneration" EXACT [] synonym: "reduced hepatic regeneration" EXACT [] synonym: "reduced liver regeneration" EXACT [] is_a: MP:0002658 ! abnormal liver regeneration [Term] id: MP:0005518 name: abnormal pancreas regeneration def: "deviation from the normal ability of the pancreas to regenerate healthy tissue following injury" [RGD:cur] is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0005519 name: increased pancreas regeneration def: "greater than the normal ability of the pancreas to regenerate healthy tissue following injury" [RGD:cur] synonym: "enhanced pancreas regeneration" EXACT [] is_a: MP:0005518 ! abnormal pancreas regeneration [Term] id: MP:0005520 name: decreased pancreas regeneration def: "less than the normal ability of the pancreas to regenerate healthy tissue following injury" [RGD:cur] synonym: "reduced pancreas regeneration" EXACT [] is_a: MP:0005518 ! abnormal pancreas regeneration [Term] id: MP:0005521 name: abnormal circulating atrial natriuretic factor level def: "deviation from the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator" [MESH:D06.472.699.584.500, RGD:cur] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0005522 name: increased circulating atrial natriuretic factor def: "greater than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator" [MESH:D06.472.699.584.500, RGD:cur] subset: Europhenome_Terms synonym: "enhanced circulating atrial natriuretic factor" EXACT [] synonym: "increased circulating ANF" EXACT [] is_a: MP:0005521 ! abnormal circulating atrial natriuretic factor level [Term] id: MP:0005523 name: decreased circulating atrial natriuretic factor def: "less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator" [MESH:D06.472.699.584.500, RGD:cur] subset: Europhenome_Terms synonym: "decreased circulating ANF" EXACT [] synonym: "reduced circulating atrial natriuretic factor" EXACT [] is_a: MP:0005521 ! abnormal circulating atrial natriuretic factor level [Term] id: MP:0005524 name: abnormal renal plasma flow rate def: "deviation from the normal volume of plasma passing through the kidney per unit time" [MGI:cwg, RGD:cur] is_a: MP:0000233 ! abnormal blood flow velocity is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0005525 name: increased renal plasma flow rate def: "greater than the normal volume of plasma passing through the kidney per unit time" [MGI:cwg, RGD:cur] is_a: MP:0005524 ! abnormal renal plasma flow rate [Term] id: MP:0005526 name: decreased renal plasma flow rate def: "less than the normal volume of plasma passing through the kidney per unit time" [MGI:cwg, RGD:cur] synonym: "reduced renal plasma flow rate" EXACT [] is_a: MP:0005524 ! abnormal renal plasma flow rate [Term] id: MP:0005527 name: increased renal glomerular filtration rate def: "greater than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time" [MESH:E01.370.390.400.300, MGI:cwg] synonym: "increased GFR" EXACT [] synonym: "increased kidney glomerular filtration rate" EXACT [] is_a: MP:0002847 ! abnormal renal glomerular filtration rate [Term] id: MP:0005528 name: decreased renal glomerular filtration rate def: "less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time" [MESH:E01.370.390.400.300, MGI:cwg] synonym: "decreased GFR" EXACT [] synonym: "decreased kidney glomerular filtration rate" EXACT [] synonym: "reduced kidney glomerular filtration rate" EXACT [] synonym: "reduced renal glomerular filtration rate" EXACT [] is_a: MP:0002847 ! abnormal renal glomerular filtration rate [Term] id: MP:0005529 name: abnormal renal vascular resistance def: "deviation from the normal force opposing blood flow in the kidney blood vessels" [MGI:cwg, RGD:cur] is_a: MP:0002136 ! abnormal kidney physiology is_a: MP:0005532 ! abnormal vascular resistance [Term] id: MP:0005530 name: decreased renal vascular resistance def: "less than the normal force opposing blood flow in the kidney blood vessels" [MGI:cwg, RGD:cur] synonym: "reduced renal vascular resistance" EXACT [] is_a: MP:0005529 ! abnormal renal vascular resistance [Term] id: MP:0005531 name: increased renal vascular resistance def: "greater than the normal force opposing blood flow in the kidney blood vessels" [MGI:cwg, RGD:cur] is_a: MP:0005529 ! abnormal renal vascular resistance [Term] id: MP:0005532 name: abnormal vascular resistance def: "deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output" [MESH:G09.330.553.660.921, MGI:cwg] synonym: "abnormal peripheral resistance" EXACT [] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0005533 name: increased body temperature def: "greater than the level of heat natural to a living being" [ISBN:0-683-40008-8, MGI:cwg, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0005535 ! abnormal body temperature [Term] id: MP:0005534 name: decreased body temperature alt_id: MP:0005038 def: "less than the level of heat natural to a living being" [ISBN:0-683-40008-8, MGI:cwg, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypothermia" EXACT [] synonym: "reduced body temperature" EXACT [] is_a: MP:0005535 ! abnormal body temperature [Term] id: MP:0005535 name: abnormal body temperature def: "deviation in the level of heat natural to a living being" [ISBN:0-683-40008-8, MGI:cwg, RGD:cur] subset: Europhenome_Terms is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0005536 name: Leydig cell hypoplasia def: "reduced numbers of the interstitial cells of the seminiferous tubules that secrete testosterone" [MGI:pvb] is_a: MP:0002786 ! abnormal Leydig cell morphology [Term] id: MP:0005537 name: abnormal cerebral aqueduct morphology def: "any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles" [MESH:A08.186.211.132.659.822.187, MGI:hdene] synonym: "abnormal aqueduct of Sylvius" EXACT [] synonym: "abnormal mesencephalic duct morphology" EXACT [] synonym: "abnormal mesencephalic vesicle morphology" EXACT [] is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0005540 name: decreased urine albumin level alt_id: MP:0005538 def: "less than the normal amount of albumin in the urine" [MGI:csmith, RGD:cur] synonym: "decreased albumin excretion" EXACT [] synonym: "decreased albumin in urine" EXACT [] synonym: "reduced albumin excretion" EXACT [] is_a: MP:0002963 ! decreased urine protein level [Term] id: MP:0005541 name: abnormal iris stromal pigmentation def: "any anomaly in the coloring of the framework of the iris" [MGI:cwg] is_a: MP:0005102 ! abnormal iris pigmentation is_a: MP:0005208 ! abnormal iris stroma morphology [Term] id: MP:0005542 name: corneal vascularization def: "formation of blood vessels in the cornea, which normally lacks vessels" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0001312 ! abnormal cornea morphology is_a: MP:0003711 ! pathological neovascularization [Term] id: MP:0005543 name: corneal thinning def: "decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure" [MGI:cwg] synonym: "thin cornea" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0005544 name: corneal deposits def: "accumulation of minerals, proteins, or other anomalous substances on the cornea" [MGI:cwg] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0005545 name: abnormal lens development def: "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [MGI:cwg] is_a: MP:0001286 ! abnormal eye development is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0005546 name: choroidal neovascularization def: "new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0003711 ! pathological neovascularization is_a: MP:0006237 ! abnormal choroid vasculature morphology [Term] id: MP:0005547 name: abnormal Muller cell morphology def: "any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal Mueller cell morphology" EXACT [] synonym: "abnormal Muller fiber morphology" EXACT [ISBN:0-683-40008-8] synonym: "abnormal Muller radial cell morphology" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0005548 name: retinal pigment epithelium atrophy def: "acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith, MGI:cwg] synonym: "atrophy of retinal pigment epithelium" EXACT [] is_a: MP:0005201 ! abnormal retinal pigment epithelium morphology [Term] id: MP:0005549 name: retinal pigment epithelium hyperplasia def: "increased numbers of cells in the epithelial layer of the retina composed of cells containing pigment granules" [MGI:cwg] synonym: "hyperplasia of retinal pigment epithelium" EXACT [] is_a: MP:0005201 ! abnormal retinal pigment epithelium morphology [Term] id: MP:0005550 name: orbital hemorrhage def: "OBSOLETE. escape of blood into the orbit" [MGI:cwg] is_obsolete: true [Term] id: MP:0005551 name: abnormal eye electrophysiology def: "any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [MGI:pretel] subset: Europhenome_Terms is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0005552 name: abnormal orbital bone morphology def: "OBSOLETE. structural anomaly of the bony cavity that contains the eyeball and is formed by parts of eight bones in the mouse: maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, palatine" [ISBN:0-683-40008-8] synonym: "abnormal orbital bones" EXACT [] is_obsolete: true [Term] id: MP:0005553 name: increased circulating creatinine level def: "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased creatinine level" EXACT [] is_a: MP:0005328 ! abnormal circulating creatinine level is_a: MP:0009644 ! uremia [Term] id: MP:0005554 name: decreased circulating creatinine level def: "less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased creatinine level" EXACT [] synonym: "reduced circulating creatinine level" EXACT [] is_a: MP:0005328 ! abnormal circulating creatinine level [Term] id: MP:0005556 name: abnormal kidney clearance def: "altered ability of the kidneys to remove substances from the plasma for excretion in a specific period of time" [MGI:cwg] synonym: "abnormal renal clearance" EXACT [] is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0005557 name: increased creatinine clearance def: "greater than the normal amount of this creatine metabolite filtered by the kidneys in a specific period of time; indicative of kidney function" [MGI:cwg, RGD:cur] is_a: MP:0005556 ! abnormal kidney clearance [Term] id: MP:0005558 name: decreased creatinine clearance def: "less than the normal amount of this creatine metabolite filtered by the kidneys in a specific period of time; indicative of kidney function" [MGI:cwg, RGD:cur] synonym: "reduced creatinine clearance" EXACT [] is_a: MP:0005556 ! abnormal kidney clearance [Term] id: MP:0005559 name: increased circulating glucose level def: "greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [MGI:cwg, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased glucose level" EXACT [] is_a: MP:0000188 ! abnormal circulating glucose level [Term] id: MP:0005560 name: decreased circulating glucose level def: "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [MGI:cwg, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased glucose level" BROAD [] synonym: "reduced circulating glucose level" EXACT [] is_a: MP:0000188 ! abnormal circulating glucose level [Term] id: MP:0005561 name: increased mean corpuscular hemoglobin def: "greater than the average levels of hemoglobin contained in an erythrocyte" [ISBN:0-683-40008-8, RGD:cur] comment: Mean corpuscular hemoglobin (MCH) is a standard measurement in clinical chemistry, usually reported in picograms/cell. subset: Europhenome_Terms subset: Sanger_Terms synonym: "high MCH" EXACT [] synonym: "high mean corpuscular hemoglobin" EXACT [] synonym: "hyperchromia" EXACT [] synonym: "increased MCH" EXACT [] is_a: MP:0001589 ! abnormal mean corpuscular hemoglobin [Term] id: MP:0005562 name: decreased mean corpuscular hemoglobin def: "less than the average levels of hemoglobin contained in an erythrocyte" [ISBN:0-683-40008-8, RGD:cur] comment: Mean corpuscular hemoglobin (MCH) is a standard measurement in clinical chemistry, usually reported in picograms/cell. subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased MCH" EXACT [] synonym: "hypochromasia" EXACT [] synonym: "hypochromatism" EXACT [] synonym: "hypochromia" EXACT [] synonym: "hypochromic erythrocyte" RELATED [] synonym: "hypochromic red cell" RELATED [] synonym: "hypochrosis" EXACT [] synonym: "low MCH" EXACT [] synonym: "low mean corpuscular hemoglobin" EXACT [] synonym: "reduced mean corpuscular hemoglobin" EXACT [] is_a: MP:0001589 ! abnormal mean corpuscular hemoglobin [Term] id: MP:0005563 name: abnormal hemoglobin content def: "deviation from the normal total hemoglobin content in the circulating blood" [MGI:csmith] is_a: MP:0001588 ! abnormal hemoglobin [Term] id: MP:0005564 name: increased hemoglobin content def: "increase in the total hemoglobin content in the circulating blood" [MGI:csmith, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0005563 ! abnormal hemoglobin content [Term] id: MP:0005565 name: increased blood urea nitrogen level def: "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased BUN" EXACT [] is_a: MP:0005265 ! abnormal blood urea nitrogen level is_a: MP:0009644 ! uremia [Term] id: MP:0005566 name: decreased blood urea nitrogen level def: "low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [ISBN:0-683-40008-8, RGD:cur] subset: Sanger_Terms synonym: "decreased BUN" EXACT [] synonym: "reduced blood urea nitrogen level" EXACT [] synonym: "reduced BUN" EXACT [] is_a: MP:0005265 ! abnormal blood urea nitrogen level [Term] id: MP:0005567 name: decreased circulating total protein level alt_id: MP:0005417 def: "total serum protein level below the normal range" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased plasma total protein level" EXACT [] synonym: "decreased total protein level" EXACT [] synonym: "hypoproteinemia" EXACT [] synonym: "reduced circulating total protein level" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0005568 name: increased circulating total protein level def: "total serum protein level above the normal range" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyperproteinemia" EXACT [] synonym: "increased plasma total protein level" EXACT [] synonym: "increased total protein level" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0005571 name: decreased lactate dehydrogenase level def: "less than the normal concentration of this enzyme, which catalyzes the interconversion of lactate and pyruvate" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased LDH level" EXACT [] synonym: "reduced lactate dehydrogenase level" EXACT [] synonym: "reduced LDH level" EXACT [] is_a: MP:0002943 ! abnormal lactate dehydrogenase level [Term] id: MP:0005572 name: abnormal pulmonary respiratory rate def: "deviation from the normal number of breaths per minute" [RGD:cur] comment: Do not confuse with pulmonary ventilation (volume of air per minute vs. number of breaths per minute). subset: Europhenome_Terms synonym: "abnormal BF" EXACT [] synonym: "abnormal breathing frequency" EXACT [] synonym: "abnormal pulmonary ventilation rate" EXACT [] synonym: "abnormal respiration rate" EXACT [] synonym: "abnormal respiratory rate" EXACT [] synonym: "abnormal ventilation rate" EXACT [] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0005573 name: increased pulmonary respiratory rate def: "greater than the normal number of breaths per minute" [RGD:cur] comment: Do not confuse with pulmonary ventilation (volume of air per minute vs. number of breaths per minute). subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased BF" EXACT [] synonym: "increased breathing frequency" EXACT [] synonym: "increased pulmonary ventilation rate" EXACT [] synonym: "increased respiration rate" EXACT [] synonym: "increased respiratory rate" EXACT [] synonym: "increased ventilation rate" EXACT [] is_a: MP:0005572 ! abnormal pulmonary respiratory rate [Term] id: MP:0005574 name: decreased pulmonary respiratory rate def: "fewer than the normal number of breaths per minute" [RGD:cur] comment: Do not confuse with pulmonary ventilation (volume of air per minute vs. number of breaths per minute). subset: Europhenome_Terms synonym: "bradypnea" EXACT [] synonym: "decreased BF" EXACT [] synonym: "decreased breathing frequency" EXACT [] synonym: "decreased pulmonary ventilation rate" EXACT [] synonym: "decreased respiration rate" EXACT [] synonym: "decreased respiratory rate" EXACT [] synonym: "decreased ventilation rate" EXACT [] synonym: "reduced BF" EXACT [] synonym: "reduced breathing frequency" EXACT [] synonym: "reduced pulmonary ventilation rate" EXACT [] synonym: "reduced respiration rate" EXACT [] synonym: "reduced respiratory rate" EXACT [] synonym: "reduced ventilation rate" EXACT [] is_a: MP:0005572 ! abnormal pulmonary respiratory rate [Term] id: MP:0005575 name: increased pulmonary ventilation def: "increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment" [ISBN:0-683-40008-8, RGD:cur] comment: Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. synonym: "increased respiratory minute ventilation" RELATED [] synonym: "increased respiratory minute volume" EXACT [] is_a: MP:0002338 ! abnormal pulmonary ventilation [Term] id: MP:0005576 name: decreased pulmonary ventilation def: "reduction in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment" [http://www.dorlands.com/, RGD:cur] comment: Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. synonym: "decreased respiratory minute ventilation" RELATED [] synonym: "decreased respiratory minute volume" EXACT [] synonym: "reduced pulmonary ventilation" EXACT [] synonym: "reduced respiratory minute volume" EXACT [] is_a: MP:0002338 ! abnormal pulmonary ventilation [Term] id: MP:0005577 name: uterus prolapse def: "downward movement, and possible external appearance, of the uterus through the vagina" [J:88284, MGI:pvb] synonym: "metra prolapse" EXACT [] synonym: "metral prolapse" EXACT [] synonym: "uterine prolapse" RELATED [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0005578 name: teratozoospermia def: "presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [ISBN:0-683-40008-8, MGI:anna] synonym: "teratospermia" EXACT [] is_a: MP:0001124 ! abnormal gametes is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0006362 ! abnormal male germ cell morphology [Term] id: MP:0005579 name: absent outer ear def: "absence of the auricles or external acoustic meatus" [MGI:cwg] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0005580 name: periinsulitis def: "early pancreatic infiltration of mononuclear cells around pancreatic Langerhans islets" [J:11442, MGI:il] synonym: "peri-insulitis" EXACT [] synonym: "periinsulinitis" EXACT [] is_a: MP:0001869 ! pancreas inflammation [Term] id: MP:0005581 name: abnormal renin activity def: "altered ability of this enzyme to cleave angiotensionogen and create angiotensin I" [RGD:cur] synonym: "abnormal angiotensionogenase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity [Term] id: MP:0005582 name: increased renin activity def: "greater than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I" [RGD:cur] synonym: "increased angiotensionogenase activity" EXACT [] is_a: MP:0005581 ! abnormal renin activity [Term] id: MP:0005583 name: decreased renin activity def: "less than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I" [RGD:cur] synonym: "decreased angiotensionogenase activity" EXACT [] synonym: "reduced angiotensionogenase activity" EXACT [] synonym: "reduced renin activity" EXACT [] is_a: MP:0005581 ! abnormal renin activity [Term] id: MP:0005584 name: abnormal enzyme/coenzyme activity def: "altered ability of any enzyme or their cofactors, to act as catalysts to induce chemical changes in other substances" [ISBN:0-683-40008-8] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0005585 name: increased tidal volume def: "greater than the normal volume of air inspired or expired during each normal respiratory cycle" [MESH:G09.772.765.850.970.500.700, RGD:cur] subset: Europhenome_Terms is_a: MP:0002313 ! abnormal tidal volume [Term] id: MP:0005586 name: decreased tidal volume def: "less than the normal volume of air inspired or expired during each normal respiratory cycle" [MESH:G09.772.765.850.970.500.700, RGD:cur] subset: Europhenome_Terms synonym: "reduced tidal volume" EXACT [] is_a: MP:0002313 ! abnormal tidal volume [Term] id: MP:0005587 name: abnormal Meckel's cartilage morphology def: "any structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments" [ISBN:0-683-40008-8] synonym: "abnormal mandibular cartilage morphology" EXACT [] synonym: "abnormal Meckel cartilage morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0005590 name: increased vasodilation def: "greater than the expected or normal widening of the lumen of the blood vessels" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0001613 ! abnormal vasodilation [Term] id: MP:0005591 name: decreased vasodilation def: "less than the expected or normal widening of the lumen of the blood vessels" [ISBN:0-683-40008-8, RGD:cur] synonym: "reduced vasodilation" EXACT [] is_a: MP:0001613 ! abnormal vasodilation [Term] id: MP:0005592 name: abnormal vascular smooth muscle morphology def: "any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MGI:cwg] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0005595 name: abnormal vascular smooth muscle physiology def: "any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [RGD:cur] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0005596 name: increased susceptibility to type I hypersensitivity reaction alt_id: MP:0001878 def: "greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this type of hypersensitivity include hay fever, asthma, and anaphylaxis. synonym: "decreased resistance to anaphylaxis" EXACT [] synonym: "decreased resistance to immediate type hypersensitivity" EXACT [] synonym: "decreased resistance to type I hypersensitivity reaction" EXACT [] synonym: "increased susceptibility to allergic response" EXACT [] synonym: "increased susceptibility to anaphylaxis" EXACT [] synonym: "increased susceptibility to immediate type hypersensitivity" EXACT [] is_a: MP:0002531 ! abnormal type I hypersensitivity reaction is_a: MP:0005088 ! increased acute inflammation [Term] id: MP:0005597 name: decreased susceptibility to type I hypersensitivity reaction def: "less likelihood or resistance to developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this type of hypersensitivity include hay fever, asthma, and anaphylaxis. synonym: "decreased susceptibility to anaphylaxis" EXACT [] synonym: "decreased susceptibility to immediate type hypersensitivity" EXACT [] synonym: "increased resistance to anaphylaxis" EXACT [] synonym: "increased resistance to immediate type hypersensitivity" EXACT [] synonym: "increased resistance to type I hypersensitivity reaction" EXACT [] synonym: "reduced susceptibility to type I hypersensitivity reaction" EXACT [] is_a: MP:0002531 ! abnormal type I hypersensitivity reaction is_a: MP:0005087 ! decreased acute inflammation [Term] id: MP:0005598 name: decreased ventricle muscle contractility def: "reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased ventricular ejection fraction volume" NARROW [] synonym: "impaired ventricle muscle contractility" EXACT [] synonym: "reduced ventricle muscle contractility" EXACT [] is_a: MP:0005140 ! decreased cardiac muscle contractility [Term] id: MP:0005599 name: increased cardiac muscle contractility alt_id: MP:0002973 def: "greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased cardiac muscle contraction" EXACT [] synonym: "increased fractional shortening (FS)" NARROW [] synonym: "increased peak of aortic outflow velocity (PAV)" NARROW [] synonym: "increased velocity of circumferential fiber shortening (Vcfc)" NARROW [] synonym: "increased ventricular ejection fraction volume" NARROW [] is_a: MP:0002972 ! abnormal cardiac muscle contractility [Term] id: MP:0005600 name: increased ventricle muscle contractility def: "greater than the normal ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased ventricular ejection fraction volume" NARROW [] is_a: MP:0005599 ! increased cardiac muscle contractility [Term] id: MP:0005601 name: increased angiogenesis def: "enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:cur] synonym: "enhanced angiogenesis" EXACT [] is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0005602 name: decreased angiogenesis def: "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:cur] synonym: "reduced angiogenesis" EXACT [] is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0005603 name: neuron hypertrophy def: "increased mass of any of the structural and functional units of the nervous system, which consist of the nerve cell body, the dendrites, and the axon" [ISBN:0-683-40008-8, RGD:cur] synonym: "neuronal hypertrophy" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0005604 name: hyperekplexia def: "disorder characterized by pathologic startle responses, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0001486 ! abnormal startle reflex [Term] id: MP:0005605 name: increased bone mass def: "an increase in the total amount of bone tissue contained in the skeleton" [MGI:cwg] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0005606 name: increased bleeding time def: "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [RGD:cur] is_a: MP:0002551 ! abnormal blood coagulation [Term] id: MP:0005607 name: decreased bleeding time def: "less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [RGD:cur] synonym: "reduced bleeding time" EXACT [] is_a: MP:0002551 ! abnormal blood coagulation [Term] id: MP:0005608 name: cardiac interstitial fibrosis def: "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [ISBN:0-683-40008-8, RGD:cur] synonym: "interstitial fibrosis of the heart" EXACT [] is_a: MP:0003141 ! cardiac fibrosis [Term] id: MP:0005609 name: abnormal circulating antidiuretic hormone level def: "deviation from the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle" [MESH:D06.472.699.631.692.781, MGI:cwg, RGD:cur] synonym: "abnormal circulating level of ADH" EXACT [] synonym: "abnormal circulating level of antidiuretic hormone" EXACT [] synonym: "abnormal circulating level of AVP" EXACT [] synonym: "abnormal circulating level of vasopressin" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0005610 name: increased circulating antidiuretic hormone level def: "greater than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle" [MESH:D06.472.699.631.692.781, MGI:cwg, RGD:cur] synonym: "increased circulating level of ADH" EXACT [] synonym: "increased circulating level of antidiuretic hormone" EXACT [] synonym: "increased circulating level of AVP" EXACT [] synonym: "increased circulating level of vasopressin" EXACT [] is_a: MP:0005609 ! abnormal circulating antidiuretic hormone level [Term] id: MP:0005611 name: decreased circulating antidiuretic hormone level def: "less than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle" [MESH:D06.472.699.631.692.781, MGI:cwg, RGD:cur] synonym: "decreased circulating level of ADH" EXACT [] synonym: "decreased circulating level of antidiuretic hormone" EXACT [] synonym: "decreased circulating level of AVP" EXACT [] synonym: "decreased circulating level of vasopressin" EXACT [] synonym: "reduced circulating antidiuretic hormone level" EXACT [] is_a: MP:0005609 ! abnormal circulating antidiuretic hormone level [Term] id: MP:0005612 name: decreased susceptibility to type II hypersensitivity reaction def: "less likelihood of or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this include: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigus, and pemphigoid. synonym: "decreased susceptibility to antibody-mediated cellular toxicity" EXACT [] synonym: "decreased susceptibility to cytotoxic type hypersensitivity" EXACT [] synonym: "increased resistance to antibody-mediated cellular toxicity" EXACT [] synonym: "increased resistance to cytotoxic type hypersensitivity" EXACT [] synonym: "increased resistance to type II hypersensitivity reaction" EXACT [] synonym: "reduced susceptibility to type II hypersensitivity reaction" EXACT [] is_a: MP:0002532 ! abnormal type II hypersensitivity reaction is_a: MP:0005087 ! decreased acute inflammation [Term] id: MP:0005613 name: increased susceptibility to type II hypersensitivity reaction def: "greater likelihood or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this include: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigus, and pemphigoid. synonym: "decreased resistance to antibody-mediated cellular toxicity" EXACT [] synonym: "decreased resistance to cytotoxic type hypersensitivity" EXACT [] synonym: "decreased resistance to type II hypersensitivity reaction" EXACT [] synonym: "increased susceptibility to antibody-mediated cellular toxicity" EXACT [] synonym: "increased susceptibility to cytotoxic type hypersensitivity" EXACT [] is_a: MP:0002532 ! abnormal type II hypersensitivity reaction is_a: MP:0005088 ! increased acute inflammation [Term] id: MP:0005614 name: decreased susceptibility to type III hypersensitivity reaction def: "less likelihood of or resistance to developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this include: Autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis, Sjogren syndrome, scleroderma, and glomerulonephritis. synonym: "decreased susceptibility to immune complex mediated hypersensitivity" EXACT [] synonym: "increased resistance to immune complex mediated hypersensitivity" EXACT [] synonym: "increased resistance to type III hypersensitivity reaction" EXACT [] synonym: "reduced susceptibility to type III hypersensitivity reaction" EXACT [] is_a: MP:0002533 ! abnormal type III hypersensitivity reaction is_a: MP:0005087 ! decreased acute inflammation [Term] id: MP:0005615 name: increased susceptibility to type III hypersensitivity reaction def: "greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this include: Autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis, Sjogren syndrome, scleroderma, and glomerulonephritis. synonym: "decreased resistance to immune complex mediated hypersensitivity" EXACT [] synonym: "decreased resistance to type III hypersensitivity reaction" EXACT [] synonym: "increased susceptibility to immune complex mediated hypersensitivity" EXACT [] is_a: MP:0002533 ! abnormal type III hypersensitivity reaction is_a: MP:0005088 ! increased acute inflammation [Term] id: MP:0005616 name: decreased susceptibility to type IV hypersensitivity reaction def: "less likelihood of or resistance to developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this include: granulomatous diseases: tuberculosis, and sarcoidosis contact dermatitis: elicited by poison ivy, detergents, clothing, etc. synonym: "decreased susceptibility to cell-mediated hypersensitivity" EXACT [] synonym: "decreased susceptibility to delayed type hypersensitivity" EXACT [] synonym: "increased resistance to cell-mediated hypersensitivity" EXACT [] synonym: "increased resistance to delayed type hypersensitivity" EXACT [] synonym: "increased resistance to type IV hypersensitivity reaction" EXACT [] synonym: "reduced susceptibility to type IV hypersensitivity reaction" EXACT [] is_a: MP:0002534 ! abnormal type IV hypersensitivity reaction is_a: MP:0005087 ! decreased acute inflammation [Term] id: MP:0005617 name: increased susceptibility to type IV hypersensitivity reaction def: "greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact" [ISBN:0-397-51047-0, MGI:cwg] comment: Examples of this include: granulomatous diseases: tuberculosis, and sarcoidosis contact dermatitis: elicited by poison ivy, detergents, clothing, etc. synonym: "decreased resistance to cell-mediated hypersensitivity" EXACT [] synonym: "decreased resistance to delayed type hypersensitivity" EXACT [] synonym: "decreased resistance to type IV hypersensitivity reaction" EXACT [] synonym: "increased susceptibility to cell-mediated hypersensitivity" EXACT [] synonym: "increased susceptibility to delayed type hypersensitivity" EXACT [] is_a: MP:0002534 ! abnormal type IV hypersensitivity reaction is_a: MP:0005088 ! increased acute inflammation [Term] id: MP:0005618 name: decreased urine potassium level alt_id: MP:0006314 def: "less than the normal amount of potassium in the urine" [MGI:csmith, RGD:cur] synonym: "decreased potassium excretion" EXACT [] synonym: "reduced potassium excretion" EXACT [] synonym: "reduced urine potassium level" EXACT [] is_a: MP:0004820 ! abnormal urine potassium level [Term] id: MP:0005619 name: increased urine potassium level alt_id: MP:0006313 def: "greater than normal amount of potassium in the urine" [RGD:cur] synonym: "increased potassium excretion" EXACT [] is_a: MP:0004820 ! abnormal urine potassium level [Term] id: MP:0005620 name: abnormal muscle contractility def: "aberrant ability of a muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0005621 name: abnormal cell physiology def: "any functional anomaly of the vital processes of the cell" [ISBN:0-683-40008-8, MGI:hdene] is_a: MP:0005384 ! cellular phenotype [Term] id: MP:0005623 name: abnormal meninges morphology def: "any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal)" [ISBN:0-683-40008-8, MGI:smb] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0005624 name: abnormal plasma anion gap def: "measurement of the interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate" [RGD:cur] is_a: MP:0001765 ! abnormal ion homeostasis [Term] id: MP:0005625 name: increased plasma anion gap def: "greater than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; high anion gap is indicative of metabolic acidosis" [RGD:cur] synonym: "high anion gap" EXACT [] is_a: MP:0005624 ! abnormal plasma anion gap [Term] id: MP:0005626 name: decreased plasma anion gap def: "less than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; low anion gap is relatively rare but may occur from the presence of abnormal positively charged proteins, as in multiple myeloma" [RGD:cur] synonym: "low anion gap" EXACT [] synonym: "reduced plasma anion gap" EXACT [] is_a: MP:0005624 ! abnormal plasma anion gap [Term] id: MP:0005627 name: increased circulating potassium level def: "greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyperkalemia" EXACT [] synonym: "increased potassium level" BROAD [] is_a: MP:0002668 ! abnormal circulating potassium level [Term] id: MP:0005628 name: decreased circulating potassium level def: "less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased potassium level" BROAD [] synonym: "hypokalemia" NARROW [] synonym: "reduced circulating potassium level" EXACT [] is_a: MP:0002668 ! abnormal circulating potassium level [Term] id: MP:0005629 name: abnormal lung weight def: "anomaly in the average weight of the lung" [RGD:cur] is_a: MP:0004881 ! abnormal lung size [Term] id: MP:0005630 name: increased lung weight def: "greater than average weight of the lung" [RGD:cur] is_a: MP:0004882 ! enlarged lung is_a: MP:0005629 ! abnormal lung weight [Term] id: MP:0005631 name: decreased lung weight def: "reduced average weight of the lung" [RGD:cur] synonym: "reduced lung weight" EXACT [] is_a: MP:0003641 ! small lung is_a: MP:0005629 ! abnormal lung weight [Term] id: MP:0005632 name: decreased circulating aspartate transaminase level def: "less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased AST level" EXACT [] synonym: "decreased circulating AAT level" EXACT [] synonym: "decreased circulating ASAT level" EXACT [] synonym: "decreased circulating aspartate aminotransferase level" EXACT [] synonym: "decreased circulating serum glutamic oxaloacetic transaminase level" EXACT [] synonym: "decreased circulating SGOT level" EXACT [] synonym: "reduced AST level" EXACT [] synonym: "reduced circulating AAT level" EXACT [] synonym: "reduced circulating ASAT level" EXACT [] synonym: "reduced circulating aspartate aminotransferase level" EXACT [] synonym: "reduced circulating aspartate transaminase level" EXACT [] synonym: "reduced circulating serum glutamic oxaloacetic transaminase level" EXACT [] synonym: "reduced circulating SGOT level" EXACT [] is_a: MP:0000203 ! abnormal circulating aspartate transaminase level [Term] id: MP:0005633 name: increased circulating sodium level def: "greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypernatremia" EXACT [] is_a: MP:0001776 ! abnormal circulating sodium level [Term] id: MP:0005634 name: decreased circulating sodium level def: "less than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyponatremia" EXACT [] synonym: "reduced circulating sodium level" EXACT [] is_a: MP:0001776 ! abnormal circulating sodium level [Term] id: MP:0005635 name: decreased circulating bilirubin level def: "reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells" [ISBN:0-683-40008-8, MGI:csmith, RGD:cur] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hypobilirubinemia" NARROW [] synonym: "reduced circulating bilirubin level" EXACT [] is_a: MP:0001569 ! abnormal circulating bilirubin level [Term] id: MP:0005636 name: abnormal mineral homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of inorganic substances that have importance in body functions" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0005637 name: abnormal iron homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of iron that normally is a cofactor in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [ISBN:0-683-40008-8] subset: Europhenome_Terms is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0005636 ! abnormal mineral homeostasis [Term] id: MP:0005638 name: hemochromatosis def: "disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary" [MESH:C16.320.565.618.337] is_a: MP:0001770 ! abnormal iron level [Term] id: MP:0005639 name: hemosiderosis def: "condition in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the reticuloendothelial system, without demonstrable tissue damage" [MESH:C18.452.565.500.500] is_a: MP:0001770 ! abnormal iron level [Term] id: MP:0005640 name: abnormal mean corpuscular hemoglobin concentration def: "deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [ISBN:0-683-40008-8, J:8936] comment: Mean corpuscular hemoglobin concentration (MCHC) is a standard measurement in clinical chemistry, usually reported in g/L or g/dL. synonym: "abnormal MCHC" EXACT [] is_a: MP:0001588 ! abnormal hemoglobin [Term] id: MP:0005641 name: increased mean corpuscular hemoglobin concentration def: "greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [ISBN:0-683-40008-8] comment: Mean corpuscular hemoglobin concentration (MCHC) is a standard measurement in clinical chemistry, usually reported in g/L or g/dL. subset: Europhenome_Terms subset: Sanger_Terms synonym: "high MCHC" EXACT [] synonym: "high mean corpuscular hemoglobin concentration" EXACT [] synonym: "increased MCHC" EXACT [] is_a: MP:0005640 ! abnormal mean corpuscular hemoglobin concentration [Term] id: MP:0005642 name: decreased mean corpuscular hemoglobin concentration def: "less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [ISBN:0-683-40008-8] comment: Mean corpuscular hemoglobin concentration (MCHC) is a standard measurement in clinical chemistry, usually reported in g/L or g/dL. subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased MCHC" EXACT [] synonym: "low MCHC" EXACT [] synonym: "low mean corpuscular hemoglobin concentration" EXACT [] synonym: "reduced mean corpuscular hemoglobin concentration" EXACT [] is_a: MP:0005640 ! abnormal mean corpuscular hemoglobin concentration [Term] id: MP:0005643 name: decreased dopamine level def: "less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary" [MESH:D02.092.211.215.311.342] synonym: "reduced dopamine level" EXACT [] is_a: MP:0001905 ! abnormal dopamine level [Term] id: MP:0005644 name: agonadal def: "denoting the absence of gonads" [MGI:llw2] is_a: MP:0000654 ! absent sex gland is_a: MP:0002211 ! abnormal primary sex determination [Term] id: MP:0005645 name: abnormal hypothalamus physiology def: "any functional anomaly of the ventral and medial region of the diencephalon forming the walls of the ventral half of the third ventricle, which is normally involved in the functions of the autonomic (visceral motor) nervous system and, through its vascular link with the anterior lobe of the pituitary gland, in endocrine mechanisms" [ISBN:0-683-40008-8] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0005646 name: abnormal pituitary gland physiology def: "any functional anomaly of this unpaired compound gland suspended from the base of the hypothalamus by a short extension of the infundibulum, the infundibular or pituitary stalk" [ISBN:0-683-40008-8] synonym: "abnormal pituitary physiology" RELATED [] is_a: MP:0002164 ! abnormal gland physiology is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0005647 name: abnormal sex gland physiology def: "any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction" [MGI:cwg] is_a: MP:0001919 ! abnormal reproductive system physiology is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0005648 name: heart right ventricle degeneration def: "replacement of cardiomyocytes in the right ventricle with fibrous tissue and/or fat" [MGI:smb] synonym: "heart right ventricular degeneration" RELATED [] synonym: "right ventricle degeneration" EXACT [] synonym: "right ventricular degeneration" EXACT [] is_a: MP:0003920 ! abnormal heart right ventricle morphology [Term] id: MP:0005649 name: spleen neoplasm def: "abnormal new cellular growth of the spleen" [J:70407, MGI:cwg] synonym: "neoplastic spleen" EXACT [] synonym: "spleen neoplasia" EXACT [] is_a: MP:0010296 ! increased hemolymphoid system tumor incidence [Term] id: MP:0005650 name: abnormal limb bud morphology def: "any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:A16.567, MGI:hdene] is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0006279 ! abnormal limb development [Term] id: MP:0005651 name: abnormal gonad rudiment morphology def: "any structural anomaly of the undifferentiated mesoderm that gives rise to the gonads" [MGI:llw2] is_a: MP:0002210 ! abnormal sex determination [Term] id: MP:0005652 name: sex reversal def: "development of the reproductive system is inconsistent with the chromosomal sex" [MGI:llw2] is_a: MP:0002210 ! abnormal sex determination [Term] id: MP:0005653 name: phototoxicity def: "condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0001764 ! abnormal homeostasis is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0005654 name: porphyria def: "acquired or inherited group of disorders characterized by excessive production of porphyrins or their precursors; if acquired, it results from inhibition of enzymes in the heme metabolic pathway by drugs, toxins or abnormal metabolites" [MESH:C16.320.565.708, MGI:anna] is_a: MP:0004147 ! increased porphyrin level [Term] id: MP:0005655 name: increased aggression def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action" [ISBN:0-683-40008-8, MGI:cwg] subset: Sanger_Terms is_a: MP:0002061 ! abnormal aggression-related behavior [Term] id: MP:0005656 name: decreased aggression def: "when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action" [ISBN:0-683-40008-8, MGI:cwg] subset: Sanger_Terms synonym: "reduced aggression" EXACT [] is_a: MP:0002061 ! abnormal aggression-related behavior [Term] id: MP:0005657 name: abnormal neural plate morphology def: "any structural anomaly or absence of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest" [ISBN:0-683-40008-8, MGI:hdene] is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0005658 name: increased susceptibility to diet-induced obesity def: "more likely to become excessively fat or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat" [MGI:cwg] synonym: "decreased resistance to diet-induced obesity" EXACT [] is_a: MP:0004890 ! decreased energy expenditure is_a: MP:0005455 ! increased susceptibility to weight gain [Term] id: MP:0005659 name: decreased susceptibility to diet-induced obesity def: "less likely to become excessively fat or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat" [MGI:cwg] synonym: "increased resistance to diet-induced obesity" EXACT [] is_a: MP:0004889 ! increased energy expenditure is_a: MP:0010182 ! decreased susceptibility to weight gain [Term] id: MP:0005660 name: abnormal circulating adrenaline level def: "aberrant concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [MESH:D02.033.100.291.310, MGI:pvb] is_a: MP:0003962 ! abnormal adrenaline level is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0005661 name: decreased circulating adrenaline level def: "less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [MESH:D02.033.100.291.310, MGI:pvb] synonym: "decreased circulating epinephrine level" EXACT [] synonym: "reduced circulating adrenaline level" EXACT [] is_a: MP:0005660 ! abnormal circulating adrenaline level [Term] id: MP:0005662 name: increased circulating adrenaline level def: "greater than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [MESH:D02.033.100.291.310, MGI:pvb] synonym: "increased circulating epinephrine level" EXACT [] is_a: MP:0005660 ! abnormal circulating adrenaline level [Term] id: MP:0005663 name: abnormal circulating noradrenaline level def: "aberrant blood amount of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [MESH:D02.033.100.291.502, MGI:pvb] synonym: "abnormal circulating norepinephrine level" EXACT [] is_a: MP:0003964 ! abnormal noradrenaline level is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0005664 name: decreased circulating noradrenaline level def: "less than the normal blood amount of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [MESH:D02.033.100.291.502, MGI:pvb] synonym: "decreased circulating norepinephrine level" EXACT [] synonym: "reduced circulating noradrenaline level" EXACT [] is_a: MP:0005663 ! abnormal circulating noradrenaline level [Term] id: MP:0005665 name: increased circulating noradrenaline level def: "greater than the normal blood amount of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [MESH:D02.033.100.291.502, MGI:pvb] synonym: "increased circulating norepinephrine level" EXACT [] is_a: MP:0005663 ! abnormal circulating noradrenaline level [Term] id: MP:0005666 name: abnormal adipose tissue physiology def: "any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue" [MESH:A10.165.114, MGI:cwg] is_a: MP:0005375 ! adipose tissue phenotype [Term] id: MP:0005667 name: abnormal circulating leptin level def: "anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MESH:D06.472.699.042.500] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0005668 name: decreased circulating leptin level def: "less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MESH:D06.472.699.042.500] synonym: "hypoleptinemia" EXACT [] synonym: "reduced circulating leptin level" EXACT [] is_a: MP:0005667 ! abnormal circulating leptin level [Term] id: MP:0005669 name: increased circulating leptin level def: "greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MESH:D06.472.699.042.500] synonym: "hyperleptinemia" NARROW [] is_a: MP:0005667 ! abnormal circulating leptin level [Term] id: MP:0005670 name: abnormal white adipose tissue physiology def: "any functional anomaly in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels" [ISBN:0-683-40008-8] synonym: "abnormal white fat physiology" RELATED [] is_a: MP:0005666 ! abnormal adipose tissue physiology [Term] id: MP:0005671 name: abnormal response to transplant def: "anomaly in the body's reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual" [MESH:E07.945, MGI:cwg] synonym: "abnormal response to cell transplant" EXACT [] synonym: "abnormal response to organ graft" EXACT [] synonym: "abnormal response to tissue graft" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0005672 name: increased susceptibility to graft versus host disease def: "greater likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host" [MESH:C20.452, MGI:cwg] synonym: "decreased resistance to graft versus host disease" EXACT [] synonym: "decreased resistance to graft vs host disease" EXACT [] synonym: "decreased resistance to GVHD" EXACT [] synonym: "increased susceptibility to graft vs host disease" EXACT [] synonym: "increased susceptibility to GVHD" EXACT [] is_a: MP:0005671 ! abnormal response to transplant [Term] id: MP:0005673 name: decreased susceptibility to graft versus host disease def: "less likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host" [MESH:C20.452, MGI:cwg] synonym: "decreased susceptibility to graft vs host disease" EXACT [] synonym: "decreased susceptibility to GVHD" EXACT [] synonym: "increased resistance to graft versus host disease" EXACT [] synonym: "increased resistance to graft vs host disease" EXACT [] synonym: "increased resistance to GVHD" EXACT [] synonym: "reduced susceptibility to graft versus host disease" EXACT [] is_a: MP:0005671 ! abnormal response to transplant [Term] id: MP:0005675 name: small gallbladder def: "reduced size of the gall bladder, the organ that serves as a storage reservoir for bile" [ISBN:0-683-40008-8, MGI:anna] synonym: "small cholecyst" EXACT [] synonym: "small gall bladder" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0006000 name: abnormal corneal epithelium morphology def: "any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea" [MESH:A09.371.060.217.325, MGI:smb] subset: Sanger_Terms is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0006001 name: abnormal intestinal transit time def: "increase or decrease in the time it takes for a bolus of material to pass through the intestine" [MGI:smb] is_a: MP:0011082 ! abnormal gastrointestinal motility [Term] id: MP:0006002 name: abnormal small intestinal transit time def: "increase or decrease in the time it takes for a bolus of material to pass through the small intestine" [MGI:smb] is_a: MP:0006001 ! abnormal intestinal transit time [Term] id: MP:0006003 name: abnormal large intestinal transit time def: "increase or decrease in the time it takes for a bolus of material to pass through the large intestine" [MGI:smb] is_a: MP:0006001 ! abnormal intestinal transit time [Term] id: MP:0006004 name: abnormal interneuron morphology def: "OBSOLETE. any structural anomaly of neurons that exclusively interact with other neurons" [MGI:smb] is_obsolete: true [Term] id: MP:0006005 name: decreased interneuron number def: "OBSOLETE. fewer than normal number of neurons that interact only with other neurons" [MGI:smb] synonym: "reduced interneuron number" EXACT [] is_obsolete: true [Term] id: MP:0006006 name: increased sensory neuron number def: "greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses" [MGI:smb] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0008947 ! increased neuron number [Term] id: MP:0006007 name: abnormal basal ganglion morphology def: "any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus" [MGI:smb] synonym: "abnormal basal ganglia morphology" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0006009 name: abnormal neuronal migration def: "any anomaly in the movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [MGI:smb] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0004811 ! abnormal neuron physiology [Term] id: MP:0006010 name: absent strial intermediate cells def: "absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential" [MGI:anna] synonym: "absent cochlear melanocyte" EXACT [] synonym: "absent stria vascularis melanocytes" EXACT [] synonym: "absent strial melanocytes" EXACT [] is_a: MP:0004367 ! abnormal strial intermediate cell morphology [Term] id: MP:0006011 name: abnormal endolymphatic duct morphology def: "any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac" [MGI:anna, MGI:smb] synonym: "abnormal ductus endolymphaticus morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology is_a: MP:0004427 ! abnormal vestibular labyrinth morphology [Term] id: MP:0006012 name: dilated endolymphatic duct def: "stretched or widened aperture of the luminal space of the endolymphatic duct" [MGI:anna, MGI:smb, PMID:11152663] synonym: "endolymphatic duct dilation" EXACT [] synonym: "inner ear hydrops" EXACT [] is_a: MP:0006011 ! abnormal endolymphatic duct morphology [Term] id: MP:0006013 name: absent endolymphatic sac def: "absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone" [MGI:anna, MGI:smb, PMID:1346922] synonym: "absent Bottcher space" EXACT [] synonym: "absent Cotunnius space" EXACT [] synonym: "absent sacculus endolymphaticus" EXACT [] synonym: "absent saccus endolymphaticu" EXACT [] is_a: MP:0006011 ! abnormal endolymphatic duct morphology [Term] id: MP:0006014 name: dilated endolymphatic sac def: "stretched or widened aperture of the luminal space of the endolymphatic sac" [MGI:anna, MGI:smb, PMID:11152663] synonym: "endolymphatic sac dilation" EXACT [] is_a: MP:0006011 ! abnormal endolymphatic duct morphology [Term] id: MP:0006015 name: dilated lateral semicircular canal def: "stretched or widened aperture of the luminal space of the lateral semicircular canal" [MGI:anna, MGI:smb] synonym: "lateral semicircular canal dilation" EXACT [] is_a: MP:0000037 ! abnormal lateral semicircular canal morphology [Term] id: MP:0006016 name: dilated posterior semicircular canal def: "stretched or widened aperture of the luminal space of the posterior semicircular canal" [MGI:anna, MGI:smb, PMID:11152663] synonym: "posterior semicircular canal dilation" EXACT [] is_a: MP:0002858 ! abnormal posterior semicircular canal morphology [Term] id: MP:0006017 name: dilated superior semicircular canal def: "stretched or widened aperture of the luminal space of the superior semicircular canal" [MGI:anna, MGI:smb, PMID:11152663] synonym: "dilated anterior semicircular canal" EXACT [] synonym: "superior semicircular canal dilation" EXACT [] is_a: MP:0003069 ! abnormal superior semicircular canal morphology [Term] id: MP:0006018 name: abnormal tympanic membrane morphology def: "any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear" [MGI:anna, MGI:smb] synonym: "abnormal drum membrane morphology" EXACT [] synonym: "abnormal eardrum morphology" RELATED [] synonym: "abnormal membrana tympani morphology" EXACT [] synonym: "abnormal myringa morphology" EXACT [] synonym: "abnormal myrinx morphology" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology [Term] id: MP:0006019 name: absent tympanic membrane def: "absence of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear" [MGI:anna, MGI:smb] synonym: "absent eardrum" RELATED [] is_a: MP:0006018 ! abnormal tympanic membrane morphology [Term] id: MP:0006020 name: decreased tympanic ring size def: "smaller than average tympanic ring" [MGI:anna, MGI:smb] synonym: "decreased size of tympanic ring" EXACT [] synonym: "reduced size of tympanic ring" EXACT [] is_a: MP:0000030 ! abnormal tympanic ring morphology [Term] id: MP:0006021 name: abnormal Reissner membrane morphology def: "any structural anomaly of the membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala" [MGI:anna, MGI:smb] synonym: "abnormal membrana vestibularis ductus cochlearis morphology" EXACT [] synonym: "abnormal paries vestibularis ductus cochlearis morphology" EXACT [] synonym: "abnormal Reissner's membrane morphology" EXACT [] synonym: "abnormal vestibular membrane morphology" EXACT [] synonym: "abnormal vestibular wall of cochlear duct morphology" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0006022 name: absent Reissner membrane def: "loss of the membrane which separates the cochlear duct from the vestibular canal" [MGI:anna, MGI:smb] synonym: "absent Reissner's membrane" EXACT [] is_a: MP:0006021 ! abnormal Reissner membrane morphology [Term] id: MP:0006023 name: detached Reissner membrane def: "partial or complete loss of connection between the membrane and the stria vascularis, the periosteum covering the lamina spiralis ossea, or both" [MGI:anna, MGI:smb] synonym: "detached Reissner's membrane" EXACT [] is_a: MP:0006021 ! abnormal Reissner membrane morphology [Term] id: MP:0006024 name: collapsed Reissner membrane def: "the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti" [MGI:anna, MGI:smb] synonym: "collapsed Reissner's membrane" EXACT [] is_a: MP:0006021 ! abnormal Reissner membrane morphology [Term] id: MP:0006025 name: distended Reissner membrane def: "an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane" [MGI:anna, MGI:smb] synonym: "distended Reissner's membrane" EXACT [] is_a: MP:0006021 ! abnormal Reissner membrane morphology [Term] id: MP:0006026 name: dilated terminal bronchiole tubes def: "stretched or widened aperture of the luminal space of the terminal lung buds" [MGI:anna, MGI:smb, PMID:14499643] synonym: "dilated terminal lung buds" EXACT [] synonym: "terminal bronchiole tube dilation" EXACT [] is_a: MP:0002268 ! abnormal terminal bronchiole morphology [Term] id: MP:0006027 name: impaired lung alveolus development def: "a block or reduction in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways" [GO:0048286] synonym: "impaired alveolarization" EXACT [] synonym: "impaired respiratory alveologenesis" EXACT [] synonym: "reduced alveolar formation" EXACT [] synonym: "reduced alveolarization" EXACT [] is_a: MP:0010995 ! abnormal lung alveolus development [Term] id: MP:0006028 name: impaired bronchiole branching def: "OBSOLETE. a block or reduction in the morphogenesis of the bronchioles" [MGI:anna, MGI:smb] comment: Instead use abnormal branching involved in lung morphogenesis MP:0011024 and children of this term. synonym: "reduced bronchiole branching" EXACT [] is_obsolete: true consider: MP:0011024 [Term] id: MP:0006029 name: abnormal sclerotome morphology def: "any structural anomaly of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord; normally, sclerotomal cells from adjacent somites become merged in intersomitically located masses that are the primordia of the centra of the vertebrae" [ISBN:0-8036-0655-99, MGI:anna, MGI:smb] is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0006030 name: abnormal otic vesicle development def: "anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [MGI:smb, PMID:10471511] synonym: "abnormal acoustic vesicle development" EXACT [] synonym: "abnormal acoustic vesicle formation" EXACT [] synonym: "abnormal auditory vesicle development" EXACT [] synonym: "abnormal auditory vesicle formation" EXACT [] synonym: "abnormal otic vesicle formation" EXACT [] synonym: "abnormal otocyst formation" EXACT [] is_a: MP:0009806 ! abnormal otic vesicle morphology [Term] id: MP:0006031 name: abnormal branchial pouch morphology def: "any structural anomaly in the series of grooves that form between the branchial arches; these endodermal evaginations develop into epithelial tissues and organs" [ISBN:0-914294-08-3, MGI:smb] synonym: "abnormal pharyngeal pouch morphology" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0006032 name: abnormal ureteric bud morphology def: "any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue" [PMID:19828308] synonym: "abnormal mesonephric diverticulum morphology" EXACT [] synonym: "abnormal UB morphology" EXACT [] is_a: MP:0003942 ! abnormal urinary system development [Term] id: MP:0006033 name: abnormal external auditory canal morphology def: "any structural anomaly of the canal that connects the outer and middle ear" [MGI:smb, PMID:10471511] synonym: "abnormal external meatus" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0006034 name: myoglobinuria def: "presence of myoglobin in the urine" [MGI:smb, RGD:cur] synonym: "increased urine myoglobin level" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0006035 name: abnormal mitochondrion morphology def: "any structural anomaly of the semiautonomous, self replicating organelles that occur in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells; mitochondria are notably the site of tissue respiration" [GO:0005739] synonym: "abnormal mitochondria morphology" EXACT [] synonym: "abnormal mitochondrial morphology" EXACT [] is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0006036 name: abnormal mitochondrial physiology def: "any functional anomaly of the cellular organelles responsible for energy production" [MGI:smb] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0006037 name: abnormal mitochondrial proliferation def: "anomaly in the expansion rate of the cellular organelles responsible for energy production by division" [MGI:smb] is_a: MP:0006036 ! abnormal mitochondrial physiology [Term] id: MP:0006038 name: increased mitochondrial proliferation def: "increase in the expansion rate of the cellular organelles responsible for energy production by division" [MGI:smb] is_a: MP:0006037 ! abnormal mitochondrial proliferation [Term] id: MP:0006039 name: decreased mitochondrial proliferation def: "reduction in the expansion rate of the cellular organelles responsible for energy production by division" [MGI:smb] synonym: "reduced mitochondrial proliferation" EXACT [] is_a: MP:0006037 ! abnormal mitochondrial proliferation [Term] id: MP:0006040 name: increased mitochondrial oxidation def: "greater than normal activity of the process in mitochondria that produces ATP" [MGI:smb] synonym: "increased oxidative phosphorylation" EXACT [] is_obsolete: true consider: MP:0002954 consider: MP:0010951 consider: MP:0010959 [Term] id: MP:0006041 name: decreased mitochondrial oxidation def: "OBSOLETE. less than normal activity of the mitochondrial process that produces ATP" [MGI:smb, RGD:cur] is_obsolete: true consider: MP:0002954 consider: MP:0010951 consider: MP:0010959 [Term] id: MP:0006042 name: increased apoptosis def: "greater than normal programmed cell death" [MGI:smb, RGD:cur] is_a: MP:0001648 ! abnormal apoptosis [Term] id: MP:0006043 name: decreased apoptosis def: "less than normal cell death" [MGI:smb, RGD:cur] synonym: "reduced apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis [Term] id: MP:0006044 name: tricuspid valve regurgitation alt_id: Fyler:1161 def: "the backward reflux of blood through the tricuspid valve, due to insufficiency caused by disease, aging or congenital malformation" [MGI:smb, RGD:cur] subset: CvDC_Terms synonym: "tricuspid regurgitation" EXACT [] synonym: "tricuspid valve insufficiency" EXACT [] is_a: MP:0006046 ! atrioventricular valve regurgitation [Term] id: MP:0006045 name: mitral valve regurgitation alt_id: Fyler:1151 def: "the backward reflux of blood through the mitral valve, due to insufficiency caused by disease, aging or congenital malformation" [MGI:smb, RGD:cur] subset: CvDC_Terms synonym: "bicuspid valve insufficiency" EXACT [] synonym: "mitral regurgitation" EXACT [] synonym: "mitral valve insufficiency" EXACT [] is_a: MP:0006046 ! atrioventricular valve regurgitation [Term] id: MP:0006046 name: atrioventricular valve regurgitation def: "the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation" [MGI:smb, RGD:cur] subset: CvDC_Terms synonym: "atrioventricular valve insufficiency" EXACT [] synonym: "AVSD AV valvar regurgitation" EXACT [] is_a: MP:0009384 ! cardiac valve regurgitation [Term] id: MP:0006047 name: aortic valve regurgitation def: "the backward reflux of blood through the aortic valve, due to insufficiency caused by disease, aging or congenital malformation" [MGI:smb, RGD:cur] subset: CvDC_Terms synonym: "aortic regurgitation" EXACT [] synonym: "aortic valve insufficiency" EXACT [] is_a: MP:0006049 ! semilunar valve regurgitation [Term] id: MP:0006048 name: pulmonary valve regurgitation def: "the backward reflux of blood through the pulmonary valve, due to insufficiency caused by disease, aging or congenital malformation" [MGI:smb, RGD:cur] subset: CvDC_Terms synonym: "pulmonary regurgitation" EXACT [] synonym: "pulmonary valve insufficiency" EXACT [] synonym: "pulmonic valve regurgitation" EXACT [] is_a: MP:0006049 ! semilunar valve regurgitation [Term] id: MP:0006049 name: semilunar valve regurgitation def: "the backward reflux of blood through the semilunar valve(s), due to insufficiency caused by disease, aging or congenital malformation" [MGI:smb] synonym: "outflow tract regurgitation" RELATED [] synonym: "semilunar valve insufficiency" EXACT [] is_a: MP:0009384 ! cardiac valve regurgitation [Term] id: MP:0006050 name: pulmonary fibrosis def: "formation of fibrous tissue within the lung often resulting from inflammation or injury" [MGI:smb, RGD:cur] synonym: "lung fibrosis" EXACT [] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0006051 name: brainstem hemorrhage def: "bleeding into the brain stem" [MGI:smb, RGD:cur] synonym: "brain stem bleeding" EXACT [] synonym: "brain stem hemorrhage" EXACT [] is_a: MP:0001915 ! intracranial hemorrhage [Term] id: MP:0006052 name: cerebellum hemorrhage def: "bleeding into the cerebellum" [MGI:smb, RGD:cur] synonym: "cerebellum bleeding" EXACT [] is_a: MP:0001915 ! intracranial hemorrhage [Term] id: MP:0006053 name: hypothalamus hemorrhage def: "bleeding into the hypothalamus" [MGI:smb, RGD:cur] synonym: "hypothalamic bleeding" EXACT [] is_a: MP:0001915 ! intracranial hemorrhage [Term] id: MP:0006054 name: spinal hemorrhage def: "bleeding into the spine" [MGI:smb, RGD:cur] synonym: "spinal bleeding" EXACT [] synonym: "spinal cord hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0006055 name: abnormal vascular endothelial cell morphology def: "any structural anomaly of the cells that line the vasculature" [MGI:smb] synonym: "abnormal vascular endothelium" EXACT [] is_a: MP:0009489 ! abnormal blood vessel endothelium morphology [Term] id: MP:0006056 name: increased vascular endothelial cell number def: "greater than normal number of cells lining the vasculature" [MGI:smb, RGD:cur] is_a: MP:0006055 ! abnormal vascular endothelial cell morphology [Term] id: MP:0006057 name: decreased vascular endothelial cell number def: "less than normal number of cells lining the vasculature" [MGI:smb, RGD:cur] synonym: "reduced vascular endothelial cell number" EXACT [] is_a: MP:0006055 ! abnormal vascular endothelial cell morphology [Term] id: MP:0006058 name: decreased cerebral infarction size def: "decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply" [MGI:smb, RGD:cur] synonym: "reduced cerebral infarction size" EXACT [] is_a: MP:0006059 ! decreased susceptibility to ischemic brain injury [Term] id: MP:0006059 name: decreased susceptibility to ischemic brain injury def: "less severe response, such as necrotic tissue size, to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of all or part of the brain tissue, compared to controls" [MGI:csmith] synonym: "increased resistance to ischemic brain injury" EXACT [] synonym: "reduced susceptibility to ischemic brain injury" EXACT [] is_a: MP:0003075 ! altered response to CNS ischemic injury is_a: MP:0005166 ! decreased susceptibility to injury [Term] id: MP:0006060 name: increased cerebral infarction size def: "increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply" [MGI:smb, RGD:cur] is_a: MP:0003076 ! increased susceptibility to ischemic brain injury [Term] id: MP:0006061 name: right atrial isomerism def: "anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the right side of the body" [MGI:smb] subset: CvDC_Terms is_a: MP:0000508 ! right-sided isomerism is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0006065 ! abnormal heart position or orientation [Term] id: MP:0006062 name: abnormal vena cava morphology def: "any structural anomaly of either of the two largest veins in the body" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal caval vein morphology" EXACT [] is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0006063 name: abnormal inferior vena cava morphology alt_id: Fyler:2810 def: "any structural anomaly of the principal vein draining blood from the lower portion of the body" [ISBN:0-8036-0655-99, MGI:smb] subset: CvDC_Terms synonym: "abnormal inferior caval vein morphology" EXACT [] synonym: "abnormal IVC morphology" EXACT [] synonym: "inferior vena cava anomaly" BROAD [] is_a: MP:0006062 ! abnormal vena cava morphology [Term] id: MP:0006064 name: abnormal superior vena cava morphology alt_id: Fyler:2820 def: "any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart" [ISBN:0-8036-0655-99, MGI:smb] subset: CvDC_Terms synonym: "abnormal precava morphology" EXACT [] synonym: "abnormal superior caval vein morphology" EXACT [] synonym: "abnormal SVC morphology" EXACT [] is_a: MP:0006062 ! abnormal vena cava morphology [Term] id: MP:0006065 name: abnormal heart position or orientation def: "the heart is displaced from the normal left-sided position and/or orientation" [MGI:smb] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0006066 name: decreased clearance of atrial thrombosis def: "slower removal of a thrombus from the atria of the heart" [MGI:smb, RGD:cur] synonym: "reduced clearance of atrial thrombosis" EXACT [] is_a: MP:0001855 ! atrial thrombosis [Term] id: MP:0006067 name: increased clearance of atrial thrombosis def: "faster removal of a thrombus from the atria of the heart" [MGI:smb, RGD:cur] is_a: MP:0001855 ! atrial thrombosis [Term] id: MP:0006068 name: abnormal horizontal cell morphology def: "any structural anomaly of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina" [ISBN:0-683-40008-8, MGI:smb] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0006069 name: abnormal retinal neuronal layer morphology def: "any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [ISBN:0-914294-08-3, MGI:smb] is_a: MP:0003727 ! abnormal retinal layer morphology [Term] id: MP:0006070 name: increased retinal photoreceptor cell number def: "greater than the expected number of rods and/or cones" [MGI:smb] is_a: MP:0001004 ! abnormal retinal photoreceptor morphology is_a: MP:0006006 ! increased sensory neuron number [Term] id: MP:0006071 name: abnormal retinal progenitor cell morphology def: "any structural anomaly of the cells that give rise to the various cells of the retina" [MGI:smb, PMID:15363391] is_a: MP:0009772 ! abnormal retinal development [Term] id: MP:0006072 name: abnormal retinal apoptosis def: "increase or decrease in the number of cells in the retina undergoing programmed cell death" [MGI:smb, PMID:15363391] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0006073 name: abnormal retinal bipolar cell morphology def: "any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [MGI:smb, PMID:15363390] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0006074 name: abnormal retinal rod bipolar cell morphology def: "any structural anomaly of the bipolar cells that function in low light and transmit signals only through amacrine cells" [MGI:smb, PMID:15363390] is_a: MP:0006073 ! abnormal retinal bipolar cell morphology [Term] id: MP:0006075 name: abnormal retinal cone bipolar cell morphology def: "any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells" [MGI:smb, PMID:15363390] is_a: MP:0006073 ! abnormal retinal bipolar cell morphology [Term] id: MP:0006076 name: abnormal circulating homocysteine level def: "aberrant amount in the blood of homocysteine" [MGI:smb, NCBI:matt] synonym: "abnormal blood serum homocysteine level" EXACT [] is_a: MP:0005311 ! abnormal circulating amino acid level [Term] id: MP:0006077 name: inguinal hernia def: "hernia through the abdominal wall in the region of the groin known as Hesselbach's triangle" [ISBN:0-8036-0655-99, MGI:smb] is_a: MP:0000757 ! herniated abdominal wall [Term] id: MP:0006078 name: abnormal nipple morphology def: "any structural anomaly of the erectile projection at the apex of the mammary gland where the lactiferous ducts open" [ISBN:0-683-40008-8, ISBN:0-8036-0655-99] synonym: "abnormal papilla mammae morphology" EXACT [] synonym: "abnormal papilla of breast morphology" EXACT [] synonym: "abnormal teat morphology" EXACT [] synonym: "abnormal thele morphology" EXACT [] synonym: "abnormal thelium morphology" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0006080 name: CNS ischemia def: "inadequate blood flow to a region of the brain that may lead to cerebral infarction" [MGI:smb, NCBI:matt] synonym: "CNS stroke" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0006081 name: increased incidence of spontaneous CNS ischemia def: "greater than normal occurrence of loss of circulation in a region of the brain" [MGI:smb, NCBI:matt] synonym: "increased CNS stroke" EXACT [] is_a: MP:0006080 ! CNS ischemia [Term] id: MP:0006082 name: CNS inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [MGI:smb, NCBI:matt] synonym: "encephalomyelitis" EXACT [] synonym: "neuritis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0006083 name: abnormal blood vessel elastic tissue morphology def: "any structural anomaly of the tissue that is found in the tunica media of the vessels wall and allows vessels to stretch" [MGI:smb, NCBI:matt] synonym: "abnormal elastic laminae morphology" EXACT [] synonym: "abnormal vascular elastic tissue morphology" EXACT [] xref: MA:0002856 is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0006084 name: abnormal circulating phospholipid level def: "any anomaly in the concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:smb, NCBI:matt] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0004777 ! abnormal phospholipid level [Term] id: MP:0006085 name: myocardial necrosis def: "pathological cell death of the cells of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers" [ISBN:0-683-40008-8] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0006086 name: decreased body mass index def: "less than normal average of a measure of weight for height" [MGI:smb, NCBI:matt] synonym: "decreased BMI" EXACT [] synonym: "reduced BMI" EXACT [] synonym: "reduced body mass index" EXACT [] is_a: MP:0001262 ! decreased body weight [Term] id: MP:0006087 name: increased body mass index def: "greater than normal average of a measure of weight for height" [MGI:smb, NCBI:matt] synonym: "increased BMI" EXACT [] is_a: MP:0001260 ! increased body weight [Term] id: MP:0006088 name: abnormal blood-cerebrospinal fluid barrier function def: "anomaly in the function of the group of barriers and transport systems in the choroid plexus located in the lateral, third, and fourth brain ventricles that controls the entrance of substances into the cerebrospinal fluid from the blood" [MGI:smb, PMID:15314169] synonym: "abnormal blood-CSF barrier" EXACT [] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0006089 name: abnormal vestibular saccule morphology def: "any structural anomaly of the smaller of the two sacs in the vestibule" [ISBN:0-8036-0655-99, MGI:smb, PMID:15363417] synonym: "abnormal saccule morphology" EXACT [] is_a: MP:0004425 ! abnormal otolith organ morphology [Term] id: MP:0006090 name: abnormal utricle morphology def: "any structural anomaly of the larger of the two sacs in the vestibule" [ISBN:0-8036-0655-99, MGI:smb, PMID:15363417] synonym: "abnormal utricular morphology" EXACT [] is_a: MP:0004425 ! abnormal otolith organ morphology [Term] id: MP:0006092 name: abnormal olfactory neuron morphology def: "any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants" [MESH:A04.531.520.573.580, MGI:smb] synonym: "abnormal olfactory receptor neuron morphology" EXACT [] is_a: MP:0001001 ! abnormal chemoreceptor morphology [Term] id: MP:0006093 name: arteriovenous malformation def: "fusion of an artery and vein without an intervening capillary bed" [MGI:smb] synonym: "arteriovenous fistula" EXACT [] synonym: "AVM" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0006094 name: increased fat cell size def: "increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449, MGI:csmith] synonym: "adipocyte hypertrophy" EXACT [MESH:A11.329.114] synonym: "fat cell hypertrophy" EXACT [] synonym: "lipocyte hypertrophy" RELATED [MESH:A11.329.114] is_a: MP:0009115 ! abnormal fat cell morphology [Term] id: MP:0006095 name: absent amacrine cells def: "absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer" [MGI:anna, MGI:smb] synonym: "absent amacrine neuron" EXACT [] is_a: MP:0008106 ! decreased amacrine cell number [Term] id: MP:0006096 name: absent retinal bipolar cells def: "absence of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [MGI:anna, MGI:smb, PMID:11032813] is_a: MP:0006073 ! abnormal retinal bipolar cell morphology [Term] id: MP:0006097 name: abnormal cerebellar lobule formation def: "anomaly in the formation of the lobes of the cerebellum" [MGI:anna, MGI:smb, PMID:11032813] is_a: MP:0000857 ! abnormal cerebellar foliation [Term] id: MP:0006098 name: absent cerebellar lobules def: "missing lobes of the cerebellum" [MGI:anna, MGI:smb] is_a: MP:0009964 ! abnormal cerebellum lobule morphology [Term] id: MP:0006099 name: thin cerebellar granule layer def: "reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells" [MGI:anna, MGI:smb, PMID:11032813] synonym: "thin internal granule layer" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer [Term] id: MP:0006100 name: abnormal tegmentum morphology def: "any structural anomaly of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct" [MGI:anna, MGI:smb] synonym: "abnormal mesencephalic tegmentum morphology" EXACT [] is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0006101 name: absent tegmentum def: "absence or loss of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct" [MGI:anna, MGI:smb] is_a: MP:0006100 ! abnormal tegmentum morphology [Term] id: MP:0006102 name: decreased tegmentum size def: "reduced size of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct" [MGI:anna, MGI:smb] synonym: "reduced tegmentum size" EXACT [] synonym: "thin tegmentum" EXACT [] is_a: MP:0006100 ! abnormal tegmentum morphology [Term] id: MP:0006103 name: abnormal midbrain roof plate morphology def: "any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof" [MGI:anna, MGI:smb] is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0006104 name: abnormal tectum morphology def: "any structural anomaly of the rostral part of the midbrain roof" [MGI:anna, MGI:smb] is_a: MP:0006103 ! abnormal midbrain roof plate morphology [Term] id: MP:0006105 name: small tectum def: "reduced size of the rostral part of the midbrain roof" [MGI:anna, MGI:smb, PMID:11032813] synonym: "decreased tectum size" EXACT [] synonym: "reduced tectum size" EXACT [] synonym: "thin tectum" EXACT [] is_a: MP:0006104 ! abnormal tectum morphology [Term] id: MP:0006106 name: absent tectum def: "absence or loss of the rostral part of the midbrain roof" [MGI:anna, MGI:smb] is_a: MP:0006104 ! abnormal tectum morphology [Term] id: MP:0006107 name: abnormal fetal atrioventricular canal morphology def: "any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum" [MGI:csmith, MGI:smb] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0006108 name: abnormal hindbrain development def: "anomaly in the formation or pattering of the caudal region of the brain" [MGI:smb] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0006109 name: fibrillation def: "asynchronous contraction or quivering of individual cardiac muscle fibers" [MGI:smb, NCBI:matt] is_a: MP:0001636 ! irregular heartbeat [Term] id: MP:0006110 name: ventricular fibrillation def: "asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles" [MGI:smb, NCBI:matt] is_a: MP:0006109 ! fibrillation [Term] id: MP:0006111 name: abnormal coronary circulation def: "any anomaly in the circulation of blood through the vessels that supply the heart" [MGI:smb] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0006112 name: angina def: "inadequate blood flow to and/or oxygenation of the heart producing chest pain" [MGI:smb, NCBI:matt] synonym: "angina pectoris" EXACT [] is_a: MP:0006111 ! abnormal coronary circulation [Term] id: MP:0006113 name: abnormal heart septum morphology def: "any structural anomaly of the thin membranous structure between the two heart atria, the atria and the ventricles, or the thick muscular structure between the two heart ventricles" [MESH:A07.541.459, NCBI:matt] synonym: "abnormal heart septa morphology" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0006114 name: cardiac murmur def: "abnormal turbulent blood flow through the valves or outflow tract results in abnormal heart sounds" [MGI:smb, NCBI:matt] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0006115 name: aortic valve atresia def: "congenital closure of the aortic valve" [MGI:smb] subset: CvDC_Terms synonym: "aortic valvar atresia" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology [Term] id: MP:0006116 name: calcified aortic valve def: "pathologic deposition of calcium salts in the aortic valve" [MGI:smb, NCBI:matt] synonym: "aortic valve calcification" BROAD [] is_a: MP:0002747 ! abnormal aortic valve morphology [Term] id: MP:0006117 name: aortic valve stenosis alt_id: Fyler:1411 def: "abnormal narrowing of the aortic valve" [MGI:smb, NCBI:matt] comment: Do not confuse with aorta stenosis. subset: CvDC_Terms synonym: "aortic stenosis" RELATED [] synonym: "aortic valvar stenosis" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology is_a: MP:0010448 ! heart left ventricle outflow tract stenosis [Term] id: MP:0006118 name: aortic valve prolapse alt_id: Fyler:1452 def: "collapse of one or more of the aortic valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps" [MGI:smb, NCBI:matt] subset: CvDC_Terms synonym: "aortic valvar prolapse" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology [Term] id: MP:0006119 name: mitral valve atresia alt_id: Fyler:0310 alt_id: Fyler:310 def: "congenital closure of the mitral valve" [MGI:smb] subset: CvDC_Terms synonym: "bicuspid valve atresia" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology [Term] id: MP:0006120 name: mitral valve prolapse alt_id: Fyler:1533 def: "collapse of one or more of the mitral valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps" [MGI:smb, NCBI:matt] subset: CvDC_Terms synonym: "bicuspid valve prolapse" EXACT [] synonym: "mitral valvar prolapse" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology [Term] id: MP:0006121 name: calcified mitral valve def: "pathologic deposition of calcium salts in the mitral valve" [MGI:smb, NCBI:matt] synonym: "bicuspid valve calcification" EXACT [] synonym: "mitral valve calcification" BROAD [] is_a: MP:0000286 ! abnormal mitral valve morphology [Term] id: MP:0006122 name: mitral valve stenosis alt_id: Fyler:1511 def: "abnormal narrowing of the mitral valve" [MGI:smb, NCBI:matt] subset: CvDC_Terms synonym: "bicuspid valve stenosis" NARROW [] is_a: MP:0000286 ! abnormal mitral valve morphology [Term] id: MP:0006123 name: tricuspid valve atresia alt_id: Fyler:0400 alt_id: Fyler:400 def: "congenital closure of the tricuspid valve" [MGI:smb, NCBI:matt] subset: CvDC_Terms is_a: MP:0002624 ! abnormal tricuspid valve morphology [Term] id: MP:0006124 name: tricuspid valve stenosis def: "abnormal narrowing of the tricuspid valve" [MGI:smb, NCBI:matt] subset: CvDC_Terms synonym: "tricuspid stenosis" EXACT [] is_a: MP:0002624 ! abnormal tricuspid valve morphology [Term] id: MP:0006125 name: tricuspid valve prolapse alt_id: Fyler:1733 def: "collapse of one or more of the tricuspid valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps" [MGI:smb, NCBI:matt] subset: CvDC_Terms is_a: MP:0002624 ! abnormal tricuspid valve morphology [Term] id: MP:0006126 name: abnormal outflow tract development def: "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions" [MGI:smb] synonym: "abnormal fetal outflow tract morphology" EXACT [] is_a: MP:0002925 ! abnormal cardiovascular development [Term] id: MP:0006128 name: pulmonary valve stenosis alt_id: Fyler:1611 def: "abnormal narrowing of the pulmonary valve" [MGI:smb, NCBI:matt] comment: Do not confuse with pulmonary artery stenosis, or infundibular pulmonary stenosis. subset: CvDC_Terms synonym: "pulmonary stenosis" RELATED [] synonym: "pulmonary stenosis, valvar" EXACT [] synonym: "pulmonary valvar stenosis" EXACT [] synonym: "pulmonic valve stenosis" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology is_a: MP:0010449 ! heart right ventricle outflow tract stenosis [Term] id: MP:0006129 name: pulmonary valve prolapse def: "collapse of one or more of the pulmonary valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps" [MGI:smb] synonym: "pulmonic valve prolapse" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology [Term] id: MP:0006130 name: pulmonary valve atresia alt_id: Fyler:1001 def: "congenital closure of the pulmonary valve" [MGI:smb] comment: Do not confuse with pulmonary artery atresia. subset: CvDC_Terms synonym: "pulmonary atresia" EXACT [] synonym: "pulmonic valve atresia" RELATED [] is_a: MP:0002748 ! abnormal pulmonary valve morphology [Term] id: MP:0006131 name: calcified pulmonary valve def: "pathologic deposition of calcium salts in the pulmonary valve" [MGI:smb] synonym: "pulmonary valve calcification" BROAD [] synonym: "pulmonic valve calcification" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology [Term] id: MP:0006132 name: calcified tricuspid valve def: "pathologic deposition of calcium salts in the tricuspid valve" [MGI:smb] synonym: "tricuspid valve calcification" BROAD [] is_a: MP:0002624 ! abnormal tricuspid valve morphology [Term] id: MP:0006133 name: calcified artery def: "pathologic deposition of calcium salts in the arteries" [MGI:smb, NCBI:matt] synonym: "arterial calcification" BROAD [] synonym: "artery calcification" BROAD [] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0006134 name: artery occlusion def: "blockage of blood flow through one or more arteries" [MGI:smb, NCBI:matt] synonym: "arterial occlusion" EXACT [] is_a: MP:0000255 ! vasculature congestion is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0006135 name: artery stenosis def: "abnormal narrowing of the arteries" [MGI:smb, NCBI:matt] synonym: "arterial stenosis" RELATED [] is_a: MP:0002191 ! abnormal artery morphology is_a: MP:0005412 ! vascular stenosis [Term] id: MP:0006136 name: varicose veins def: "enlarged, twisted, painful superficial veins resulting from poorly functioning valves" [MGI:smb, NCBI:matt] is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0006137 name: venoocclusion def: "blockage of blood flow through one or more veins" [MGI:smb, NCBI:matt] is_a: MP:0000255 ! vasculature congestion is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0006138 name: congestive heart failure def: "the heart is unable to adequately pump blood throughout the body" [MGI:smb, NCBI:matt] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0006140 name: increased cardiac rhabdomyoma incidence def: "greater than the expected number of a benign tumor of the myocardium, occurring in a specific population in a given time period; it is most commonly seen in the young and is often associated with tuberous sclerosis" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0010291 ! increased cardiovascular system tumor incidence is_a: MP:0010391 ! increased rhabdomyoma incidence [Term] id: MP:0006141 name: abnormal atrioventricular node conduction def: "anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle" [MGI:smb, NCBI:matt] synonym: "atrioventricular node defect" EXACT [] is_a: MP:0003137 ! abnormal impulse conducting system conduction [Term] id: MP:0006142 name: abnormal sinoatrial node conduction alt_id: Fyler:7010 def: "anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles" [MGI:smb] subset: CvDC_Terms synonym: "sinoatrial node defect" BROAD [] synonym: "sinus node defect" BROAD [] is_a: MP:0003137 ! abnormal impulse conducting system conduction [Term] id: MP:0006143 name: increased systemic arterial diastolic blood pressure def: "abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed" [MGI:smb, NCBI:matt] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002842 ! increased systemic arterial blood pressure [Term] id: MP:0006144 name: increased systemic arterial systolic blood pressure def: "abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries" [MGI:smb, NCBI:matt] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002842 ! increased systemic arterial blood pressure [Term] id: MP:0006145 name: legal blindness def: "the best corrected visual acuity is 20/200, or the visual field is 20 degrees or less (sensu H. sapiens)" [MGI:smb, NCBI:matt] is_a: MP:0002001 ! blindness [Term] id: MP:0006147 name: monocular blindness def: "loss of vision in only one eye, may be transient" [MGI:smb, NCBI:matt] is_a: MP:0002001 ! blindness [Term] id: MP:0006148 name: binocular blindness def: "loss of vision in both eyes, may be transient" [MGI:smb, NCBI:matt] is_a: MP:0002001 ! blindness [Term] id: MP:0006149 name: blurred vision def: "loss of visual acuity or ability to distinguish small details" [MGI:smb, NCBI:matt] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0006150 name: double vision def: "two images are perceived when only a single object is present" [MGI:smb, NCBI:matt] synonym: "diplopia" EXACT [] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0006151 name: astigmatism def: "the cornea is asymmetrically curved, causing out-of-focus vision" [MGI:smb, NCBI:matt] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0006152 name: tunnel vision def: "loss of peripheral vision" [MGI:smb, NCBI:matt] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0006153 name: hypermetropia def: "light entering the eye focuses behind the retina, instead of directly on it" [MGI:smb, NCBI:matt] synonym: "farsighted" EXACT [] synonym: "hyperopia" EXACT [] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0006154 name: eye abduction def: "abnormal movement of the eye laterally, or towards the temple" [MGI:smb, NCBI:matt] is_a: MP:0001389 ! abnormal eye movement [Term] id: MP:0006155 name: eye adduction def: "abnormal movement of the eye medially, or towards the nose" [MGI:smb, NCBI:matt] is_a: MP:0001389 ! abnormal eye movement [Term] id: MP:0006156 name: abnormal visual pursuit def: "anomaly in the ability to selectively track a moving object" [MGI:smb, NCBI:matt] is_a: MP:0001389 ! abnormal eye movement [Term] id: MP:0006157 name: palsy of the eye def: "the eye fails to move properly in all directions of gaze" [MGI:smb, NCBI:matt] is_a: MP:0001389 ! abnormal eye movement [Term] id: MP:0006158 name: vertical supranuclear palsy def: "inability to move the eye vertically" [MGI:smb, NCBI:matt] is_a: MP:0006157 ! palsy of the eye [Term] id: MP:0006159 name: ocular albinism def: "absence of melanin (pigment) production in the eye with identifiable melanocytes present" [MGI:smb, NCBI:matt] synonym: "absent eye pigment" BROAD [] is_a: MP:0008480 ! absent eye pigmentation [Term] id: MP:0006160 name: heterochromatic iridis def: "a difference in color between the irises of the two eyes or between parts of one iris" [MGI:smb, NCBI:matt] is_a: MP:0005102 ! abnormal iris pigmentation [Term] id: MP:0006162 name: thick eyelids def: "increased width of the eyelid" [MGI:smb, NCBI:matt] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0006163 name: ankyloblepharon filiform def: "abnormal connection of the upper and lower eyelids formed by fibrous tissue" [MGI:smb, NCBI:matt] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0006164 name: ectropion def: "abnormal eversion of the upper or lower eyelid that leaves the eye exposed and dry" [MGI:smb, NCBI:matt] synonym: "rolled out eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0006165 name: entropion def: "abnormal inward rolling of the eyelid, most commonly the lower lid" [MGI:smb, NCBI:matt] synonym: "rolled in eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0006166 name: eyelid retraction def: "eyelids open abnormally wide" [MGI:smb, NCBI:matt] is_a: MP:0003671 ! abnormal eyelid aperture [Term] id: MP:0006167 name: eyelid edema def: "an abnormal accumulation of fluid in the eyelid" [MGI:smb, NCBI:matt] is_a: MP:0001340 ! abnormal eyelid morphology is_a: MP:0001785 ! edema [Term] id: MP:0006168 name: epicanthus inversus def: "a vertical fold of skin runs from the lower eyelid up either side of the nose" [MGI:smb, NCBI:matt] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0006169 name: eyelid tumor def: "presence of abnormal rapidly proliferating cells in the eyelid, usually in the form of a distinct mass" [MGI:smb, NCBI:matt] synonym: "tumor of the eyelid" EXACT [] is_a: MP:0008018 ! increased facial tumor incidence [Term] id: MP:0006170 name: eyelid myxoma def: "a benign tumor composed of connective tissue embedded in mucus found in the eyelid" [MGI:smb, NCBI:matt] is_a: MP:0003391 ! myxoma is_a: MP:0006169 ! eyelid tumor [Term] id: MP:0006171 name: eyelid neuroma def: "a tumor composed of nerve tissue found in the eyelid" [MGI:smb, NCBI:matt] is_a: MP:0006169 ! eyelid tumor is_a: MP:0010281 ! increased nervous system tumor incidence [Term] id: MP:0006172 name: eyelid lipodermoid def: "a congenital, yellowish-white, fatty, benign tumor located beneath the conjunctiva of the eye" [MGI:smb, NCBI:matt] is_a: MP:0006169 ! eyelid tumor [Term] id: MP:0006173 name: abnormal myeloid dendritic cell morphology def: "any structural anomaly of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses" [PMID:10449155, PMID:9521319] synonym: "abnormal DC1 morphology" EXACT [] is_a: MP:0005461 ! abnormal dendritic cell morphology is_a: MP:0008248 ! abnormal mononuclear phagocyte morphology [Term] id: MP:0006174 name: abnormal isthmic organizer morphology def: "any structural anomaly of the organizing signaling center that forms at the boundary between the midbrain and hindbrain and plays essential role in development of the midbrain and anterior hindbrain" [MGI:smb] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0006175 name: choroid atrophy def: "acquired diminution of the size of the choroid associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith, NCBI:matt] is_a: MP:0005098 ! abnormal choroid morphology [Term] id: MP:0006176 name: choroid degeneration def: "a retrogressive impairment of function or destruction of the choroid" [MGI:smb, NCBI:matt] synonym: "choroid dystrophy" EXACT [] is_a: MP:0005098 ! abnormal choroid morphology [Term] id: MP:0006177 name: choroid sclerosis def: "thickening or hardening of the choroid usually secondary to atrophy" [MGI:smb, NCBI:matt] is_a: MP:0005098 ! abnormal choroid morphology [Term] id: MP:0006180 name: choroid hemangioma def: "a benign tumor of the choroid, originating from the overgrowth of blood vessels" [MGI:smb, NCBI:matt] is_a: MP:0002947 ! hemangioma is_a: MP:0010304 ! increased choroid tumor incidence [Term] id: MP:0006182 name: retinal hemangioma def: "a benign tumor of the retina, originating from the overgrowth of blood vessels" [MGI:smb, NCBI:matt] synonym: "retinal angioma" EXACT [] is_a: MP:0002947 ! hemangioma is_a: MP:0010303 ! increased retina tumor incidence [Term] id: MP:0006183 name: retinal hamartoma def: "tumor-like focal abnormalities of the retina; rarely neoplastic" [MGI:smb, NCBI:matt] is_a: MP:0010303 ! increased retina tumor incidence is_a: MP:0010306 ! increased hamartoma incidence [Term] id: MP:0006184 name: retinal astrocytoma def: "a malignant tumor of nervous tissue composed of well-differentiated astrocytes located in the retina" [MGI:smb, NCBI:matt] is_a: MP:0010277 ! increased astrocytoma incidence is_a: MP:0010303 ! increased retina tumor incidence [Term] id: MP:0006185 name: retinal hemorrhage def: "bleeding into the retina" [MGI:smb, NCBI:matt] is_a: MP:0001325 ! abnormal retina morphology is_a: MP:0006203 ! eye hemorrhage [Term] id: MP:0006186 name: retinal fibrosis def: "invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury" [MGI:smb, NCBI:matt] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0006187 name: retinal deposits def: "abnormal accumulation of material on the retina" [MGI:smb, NCBI:matt] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0006188 name: calcified retina def: "pathologic deposition of calcium salts in the retina" [MGI:smb, NCBI:matt] synonym: "retinal calcification" BROAD [] is_a: MP:0006187 ! retinal deposits is_a: MP:0006209 ! calcified intraocular region [Term] id: MP:0006190 name: retinal ischemia def: "abnormal incidence of or response to loss of circulation in the retina; may be induced or spontaneous" [MGI:smb, NCBI:matt] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0006191 name: conjunctival deposits def: "abnormal accumulation of material on the conjunctiva" [MGI:smb, NCBI:matt] is_a: MP:0001310 ! abnormal conjunctiva morphology [Term] id: MP:0006192 name: abnormal conjunctival vasculature morphology def: "any structural anomaly of the blood vessel network of the conjunctiva" [MGI:smb, NCBI:matt] is_a: MP:0001310 ! abnormal conjunctiva morphology is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0006193 name: conjunctival telangiectasia def: "vascular lesion formed by dilation of a group of small blood vessels in the conjunctiva" [MGI:smb, NCBI:matt] is_a: MP:0004175 ! telangiectases is_a: MP:0006192 ! abnormal conjunctival vasculature morphology [Term] id: MP:0006194 name: keratoconjunctivitis def: "inflammation of the conjunctiva and cornea" [MGI:smb, NCBI:matt] is_a: MP:0001852 ! conjunctivitis [Term] id: MP:0006197 name: ocular hypotelorism def: "the distance between the eyes is reduced" [MGI:smb, NCBI:matt] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0006198 name: enophthalmos alt_id: MP:0006195 def: "recession of the eyeball within the orbit" [ISBN:0-683-40008-8] synonym: "deep-set eyes" EXACT [] synonym: "enopthalmia" EXACT [] synonym: "sunken eyes" EXACT [] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0006199 name: hypertropia def: "vertical misalignment between the eyes" [MGI:smb, NCBI:matt] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0006200 name: vitreous body deposition def: "abnormal accumulation of material in the vitreous body" [MGI:smb, NCBI:matt] synonym: "corpus vitreum deposition" EXACT [] synonym: "hyaloid body deposition" EXACT [] synonym: "vitreal body deposition" EXACT [] synonym: "vitreum deposition" EXACT [] is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0006201 name: vitreous body inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the vitreous body" [MGI:smb, NCBI:matt] synonym: "corpus vitreum inflammation" EXACT [] synonym: "hyaloid body inflammation" EXACT [] synonym: "vitreal body inflammation" EXACT [] synonym: "vitreum inflammation" EXACT [] is_a: MP:0001851 ! eye inflammation is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0006202 name: vitreous body hemorrhage def: "bleeding into the vitreous body" [MGI:smb, NCBI:matt] synonym: "corpus vitreum hemorrhage" EXACT [] synonym: "hyaloid body hemorrhage" EXACT [] synonym: "vitreal body hemorrhage" EXACT [] synonym: "vitreum hemorrhage" EXACT [] is_a: MP:0002699 ! abnormal vitreous body morphology is_a: MP:0006203 ! eye hemorrhage [Term] id: MP:0006203 name: eye hemorrhage def: "bleeding into the eye" [MGI:smb] subset: Sanger_Terms is_a: MP:0001634 ! internal hemorrhage [Term] id: MP:0006204 name: embryonic lethality before implantation def: "death anytime between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:smb] synonym: "embryonic death before implantation" EXACT [] synonym: "preimplantation death" EXACT [] synonym: "preimplantation lethality" EXACT [] is_a: MP:0008762 ! embryonic lethality [Term] id: MP:0006205 name: embryonic lethality between implantation and somite formation def: "death anytime between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:smb] synonym: "embryonic death before somite formation" RELATED [] synonym: "embryonic lethality before somite formation" RELATED [] synonym: "postimplantation lethality" RELATED [] is_a: MP:0009850 ! embryonic lethality between implantation and placentation [Term] id: MP:0006206 name: embryonic lethality between somite formation and embryo turning def: "death anytime between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:smb] synonym: "embryonic death before turning of embryo" RELATED [] synonym: "embryonic lethality before embryo turning" RELATED [] synonym: "embryonic lethality before turning of embryo" RELATED [] is_a: MP:0009850 ! embryonic lethality between implantation and placentation [Term] id: MP:0006207 name: embryonic lethality during organogenesis def: "death anytime between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:smb] synonym: "embryonic death during organogenesis" EXACT [] is_a: MP:0008762 ! embryonic lethality [Term] id: MP:0006208 name: lethality throughout fetal growth and development def: "death anytime between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:smb] synonym: "embryonic death during fetal growth and development" RELATED [] synonym: "embryonic lethality during fetal growth and development" RELATED [] synonym: "embryonic lethality throughout fetal growth and development" RELATED [] is_a: MP:0002080 ! prenatal lethality is_a: MP:0010832 ! lethality during fetal growth through weaning [Term] id: MP:0006209 name: calcified intraocular region def: "pathologic deposition of calcium salts in the eye" [MGI:smb, NCBI:matt] synonym: "intraocular calcification" BROAD [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0006210 name: abnormal orbit size def: "deviation from the normal size of the orbit" [MGI:smb, NCBI:matt] is_a: MP:0010030 ! abnormal orbit morphology [Term] id: MP:0006211 name: small orbits def: "reduced size of the orbits" [MGI:smb, NCBI:matt] is_a: MP:0006210 ! abnormal orbit size [Term] id: MP:0006212 name: large orbits def: "increased size of the orbits" [MGI:smb, NCBI:matt] is_a: MP:0006210 ! abnormal orbit size [Term] id: MP:0006213 name: shallow orbits def: "decrease in the depth of the orbit" [MGI:smb, NCBI:matt] is_a: MP:0006210 ! abnormal orbit size [Term] id: MP:0006214 name: asymmetrical orbits def: "loss of bilateral symmetry in the orbits" [MGI:smb, NCBI:matt] is_a: MP:0010030 ! abnormal orbit morphology [Term] id: MP:0006216 name: abnormal optic disc size def: "deviation from the normal size of the optic disc" [MGI:smb, NCBI:matt] is_a: MP:0008259 ! abnormal optic disc morphology [Term] id: MP:0006217 name: small optic disc def: "reduced size of the optic disc" [MGI:smb, NCBI:matt] is_a: MP:0006216 ! abnormal optic disc size [Term] id: MP:0006218 name: large optic disc def: "increased size of the optic disc" [MGI:smb, NCBI:matt] is_a: MP:0006216 ! abnormal optic disc size [Term] id: MP:0006219 name: optic nerve degeneration def: "retrogressive pathologic change of the optic nerve" [MGI:smb, NCBI:matt] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0006220 name: optic nerve compression def: "constriction of the optic nerve" [MGI:smb, NCBI:matt] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0006221 name: optic nerve hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the fibers in the optic nerve" [MGI:smb, NCBI:matt] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0006222 name: optic neuropathy def: "damage of the optic nerve due to a blockage of its blood supply, to nutritional deficiencies, or to toxins" [MGI:smb, NCBI:matt] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0006223 name: optic nerve swelling def: "accumulation of an excessive amount of fluid in the optic nerve; usually associated with an increase in intraocular pressure" [MGI:smb, NCBI:matt] synonym: "papilledema" EXACT [] synonym: "pseudopapilledema" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology is_a: MP:0001785 ! edema [Term] id: MP:0006224 name: oculomotor apraxia def: "impaired control of horizontal eye movements" [MGI:smb, NCBI:matt] is_a: MP:0001389 ! abnormal eye movement [Term] id: MP:0006225 name: ocular rupture def: "tearing of the tissues of the eye" [MGI:smb, NCBI:matt] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0006226 name: iris hypoplasia def: "underdevelopment or reduced size of the iris, usually due to a reduced number of cells" [MGI:smb, NCBI:matt] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0006228 name: iris atrophy def: "acquired diminution of the size of the iris associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith, NCBI:matt] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0006229 name: iris inflammation def: "local accumulation of fluid, plasma proteins and leukocytes in the iris" [MGI:smb, NCBI:matt] is_a: MP:0001851 ! eye inflammation [Term] id: MP:0006230 name: iris stroma hypoplasia def: "underdevelopment or reduced size of the iris stroma, usually due to a reduced number of cells" [MGI:smb, NCBI:matt] is_a: MP:0005208 ! abnormal iris stroma morphology is_a: MP:0006226 ! iris hypoplasia [Term] id: MP:0006232 name: Lisch nodule def: "a focal growth that resembles a neoplasm but results from faulty development in the iris and containing melanocytes" [MGI:smb, NCBI:matt] synonym: "iris hamartoma" EXACT [] is_a: MP:0010305 ! increased iris tumor incidence is_a: MP:0010306 ! increased hamartoma incidence [Term] id: MP:0006234 name: iridoschisis def: "separation of the anterior iris stroma from the posterior stroma and muscle layers" [MGI:smb, NCBI:matt] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0006235 name: polycoria def: "two or more pupils in one iris each with sphincter muscle" [MGI:smb, NCBI:matt] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0006236 name: absent meibomian glands def: "missing meibomian glands" [MGI:smb, NCBI:matt] is_a: MP:0005252 ! abnormal meibomian gland morphology [Term] id: MP:0006237 name: abnormal choroid vasculature morphology def: "any structural anomaly of the blood vessels of the choroid" [MGI:smb] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0005098 ! abnormal choroid morphology [Term] id: MP:0006238 name: abnormal choriocapillaris morphology def: "any structural anomaly of the capillaries forming the inner vascular layer of the choroid of the eye" [MGI:smb, NCBI:matt] is_a: MP:0006237 ! abnormal choroid vasculature morphology [Term] id: MP:0006239 name: absent choriocapillaris def: "missing capillaries forming the inner vascular layer of the choroid of the eye" [MGI:smb, NCBI:matt] is_a: MP:0006238 ! abnormal choriocapillaris morphology [Term] id: MP:0006240 name: anisocoria def: "unequal size of pupils" [MGI:smb, NCBI:matt] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0006241 name: abnormal placement of pupils def: "abnormal location of the pupil so that it is not in the center of the iris" [MGI:smb, NCBI:matt] subset: Europhenome_Terms subset: Sanger_Terms synonym: "corectopia" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0006242 name: white pupil def: "reflective white mass within the eye that gives the appearance of white pupil" [MGI:smb, NCBI:matt] synonym: "leukokoria" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0006243 name: impaired pupillary reflex def: "the pupil fails to constrict fully when exposed to bright light" [MGI:smb, NCBI:matt] subset: Sanger_Terms synonym: "abnormal pupil dilation reaction to light" EXACT [] synonym: "Marcus-Gunn pupil" EXACT [] is_a: MP:0002638 ! abnormal pupillary reflex [Term] id: MP:0006244 name: involuntary contraction of eyelids def: "spasmodic winking caused by the involuntary contraction of an eyelid muscle" [MGI:smb, NCBI:matt] synonym: "blepharospasm" EXACT [] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0006245 name: dislocated lens def: "the lens is moved out of position because some or all of the supporting ligaments have broken" [MGI:smb, NCBI:matt] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0006248 name: lagopthalmos def: "inability to completely close the eye" [MGI:smb, NCBI:matt] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0006249 name: phthisis bulbi def: "small, shrunken, malformed eye that usually occurs as the end result of eye disease" [MGI:smb, NCBI:matt] is_a: MP:0002697 ! abnormal eye size [Term] id: MP:0006250 name: abnormal line of Schwalbe morphology def: "any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea" [MGI:smb, NCBI:matt] synonym: "abnormal Schwalbe's ring morphology" EXACT [] is_a: MP:0005203 ! abnormal trabecular meshwork morphology [Term] id: MP:0006251 name: eyelid apraxia def: "impaired ability to open the eyelids without any gross defect in eyelid morphology" [MGI:smb, NCBI:matt] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0006252 name: lateral rectus palsy def: "paralysis of the lateral rectus muscle preventing medially deviated and movement laterally from the midline" [MGI:smb, NCBI:matt] is_a: MP:0006157 ! palsy of the eye [Term] id: MP:0006253 name: clinodactyly def: "abnormal lateral curvature of one or more digits towards or away from each other" [MGI:smb] synonym: "bent digits" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0006254 name: thin cerebral cortex def: "decreased depth of the mantle covering the surface of the cerebral hemispheres" [MGI:smb] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0006256 name: abnormal gustatory papillae morphology def: "any structural anomaly of the papillae that contain taste buds, including the fungiform, foliate, and circumvallate papillae" [MGI:smb] synonym: "abnormal taste papillae morphology" EXACT [] is_a: MP:0000764 ! abnormal tongue epithelium morphology [Term] id: MP:0006257 name: abnormal fungiform papillae morphology def: "any structural anomaly of the mushroom-shaped papillae, which have a single taste bud at the tip, located mostly on the dorsal anterior portion of the tongue" [MGI:smb] is_a: MP:0006256 ! abnormal gustatory papillae morphology [Term] id: MP:0006258 name: abnormal circumvallate papillae morphology def: "any structural anomaly of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue" [MGI:smb] synonym: "abnormal vallate papillae" EXACT [] is_a: MP:0006256 ! abnormal gustatory papillae morphology [Term] id: MP:0006259 name: abnormal foliate papillae morphology def: "any structural anomaly of the papillae located on the sides of the tongue" [ISBN:0-8036-0655-99, MGI:smb] is_a: MP:0006256 ! abnormal gustatory papillae morphology [Term] id: MP:0006260 name: abnormal gustatory papillae taste bud morphology def: "any structural anomaly of the taste buds located on the gustatory papillae, which includes the fungiform, foliate, and circumvallate papillae" [MGI:smb] synonym: "abnormal gustatory papillae taste buds" RELATED [] is_a: MP:0001002 ! abnormal taste bud morphology [Term] id: MP:0006261 name: annular pancreas def: "an abnormal ring or collar of pancreatic tissue that encircles the duodenum" [MGI:smb] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0006262 name: testis tumor def: "presence of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass" [MGI:smb] is_a: MP:0009590 ! gonad tumor is_a: MP:0010288 ! increased gland tumor incidence [Term] id: MP:0006263 name: decreased systemic arterial diastolic blood pressure def: "abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed" [MGI:monikat] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced diastolic blood pressure" EXACT [] is_a: MP:0002843 ! decreased systemic arterial blood pressure [Term] id: MP:0006264 name: decreased systemic arterial systolic blood pressure def: "abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries" [MGI:monikat] subset: Europhenome_Terms subset: Sanger_Terms synonym: "reduced systolic blood pressure" EXACT [] is_a: MP:0002843 ! decreased systemic arterial blood pressure [Term] id: MP:0006265 name: increased pulse pressure def: "increase in the difference between systolic and diastolic blood pressure" [RGD:cur] is_a: MP:0003882 ! abnormal pulse pressure [Term] id: MP:0006266 name: decreased pulse pressure def: "decrease in the difference between systolic and diastolic blood pressure" [RGD:cur] synonym: "reduced pulse pressure" EXACT [] is_a: MP:0003882 ! abnormal pulse pressure [Term] id: MP:0006267 name: abnormal intercalated disc morphology def: "any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction" [MGI:anna, MGI:csmith] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0006268 name: absent cardiac desmosomes def: "absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue" [MGI:anna] synonym: "absent cardiac macula adherens" EXACT [] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0006269 name: abnormal mammary gland growth during pregnancy def: "anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation" [MGI:llw2] is_a: MP:0000628 ! abnormal mammary gland development is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0006270 name: abnormal mammary gland growth during lactation def: "anomaly in the final stage of mammary growth that occurs during the start of lactation" [MGI:llw2] is_a: MP:0000628 ! abnormal mammary gland development [Term] id: MP:0006271 name: abnormal involution of the mammary gland def: "anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost" [MGI:llw2] is_a: MP:0000628 ! abnormal mammary gland development [Term] id: MP:0006272 name: abnormal urine organic anion level def: "any change in the amount of organic anions in the urine" [MGI:csmith, MGI:smb] synonym: "abnormal kidney organic anion excretion" EXACT [] synonym: "abnormal renal organic anion excretion" EXACT [] synonym: "abnormal renal organic anion secretion" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0006273 name: abnormal urine organic cation level def: "any change in the amount of organic cations in the urine" [MGI:csmith, MGI:smb] synonym: "abnormal kidney organic cation excretion" EXACT [] synonym: "abnormal renal organic cation excretion" RELATED [] synonym: "abnormal renal organic cation secretion" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0006274 name: abnormal urine sodium level alt_id: MP:0006312 def: "any change in the amount of sodium in the urine" [MGI:csmith, MGI:smb] synonym: "abnormal kidney sodium excretion" EXACT [] synonym: "abnormal renal sodium excretion" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0006276 name: abnormal autonomic nervous system physiology def: "any functional anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions" [ISBN:0-8036-0655-99, MGI:anna] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0006277 name: abnormal parasympathetic nervous system physiology def: "any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0006276 ! abnormal autonomic nervous system physiology [Term] id: MP:0006278 name: aortic aneurysm alt_id: Fyler:2301 def: "a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms is_a: MP:0000272 ! abnormal aorta morphology is_a: MP:0003279 ! aneurysm [Term] id: MP:0006279 name: abnormal limb development def: "anomaly in the formation of the limbs" [MGI:smb] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0006280 name: abnormal digit development def: "anomaly in the formation of the digits" [MGI:smb] is_a: MP:0006279 ! abnormal limb development [Term] id: MP:0006281 name: abnormal tail development def: "anomaly in the formation of the tail" [MGI:smb] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0006282 name: abnormal spinal cord dorsal horn morphology def: "any structural anomaly of the pronounced, dorsolaterally oriented ridge of grey matter in each lateral half of the spinal cord" [ISBN:0-683-40008-8] comment: Note that the synonym posterior column may refer to either the grey matter dorsal horn or the white matter dorsal column in the spinal cord. Posterior horn may also refer to a region of the brain lateral ventricles. synonym: "abnormal dorsal horn morphology" EXACT [] synonym: "abnormal posterior column morphology" EXACT [] synonym: "abnormal posterior cornu morphology" EXACT [] synonym: "abnormal posterior gray horn morphology" EXACT [] synonym: "abnormal posterior horn morphology" EXACT [] xref: MA:0001119 is_a: MP:0008503 ! abnormal spinal cord grey matter morphology [Term] id: MP:0006283 name: medulloblastoma def: "a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin" [MGI:rbabiuk, MGI:smb] synonym: "primitive neuroendocrine tumor" EXACT [] is_a: MP:0008021 ! blastoma is_a: MP:0009277 ! brain tumor [Term] id: MP:0006284 name: absent hypaxial muscle def: "absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue" [MGI:anna, PMID:1591996] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0006285 name: absent inner ear def: "absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea" [MGI:anna] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0006286 name: inner ear hypoplasia def: "underdevelopment or reduced size of inner ear structures, usually due to decreased cell number" [MGI:anna] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0006287 name: inner ear cysts def: "abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea" [MGI:anna] synonym: "cystic inner ear" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0006288 name: small otic capsule def: "reduced size of the cartilage or bony capsule surrounding the inner ear mechanism" [MGI:anna] is_a: MP:0000039 ! abnormal otic capsule morphology [Term] id: MP:0006289 name: otic capsule hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilage or bony capsule surrounding the inner ear mechanism" [MGI:anna] synonym: "hypoplastic otic capsule" EXACT [] is_a: MP:0006288 ! small otic capsule [Term] id: MP:0006290 name: proboscis def: "a long, cylindrical protuberance of the face that, in cyclopia or ethmocephaly, represents the nose" [MGI:anna] is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0006291 name: aprosencephaly def: "the most severe form of holoprosencephaly where the entire prosencephalon (both telencephalon and diencephalon) fails to develop while the hindbrain is largely preserved" [MGI:anna] is_a: MP:0005157 ! holoprosencephaly [Term] id: MP:0006292 name: abnormal nasal placode morphology def: "any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose" [MGI:anna, MGI:csmith] synonym: "abnormal olfactory placodes" EXACT [] synonym: "olfactory placode dysplasia" EXACT [] is_a: MP:0003115 ! abnormal respiratory system development is_a: MP:0003935 ! abnormal craniofacial development is_a: MP:0005499 ! abnormal olfactory system morphology [Term] id: MP:0006293 name: absent nasal placodes def: "absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose" [MGI:anna, MGI:csmith] synonym: "absent olfactory placodes" EXACT [] is_a: MP:0006292 ! abnormal nasal placode morphology [Term] id: MP:0006294 name: absent optic vesicle def: "absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [MGI:anna] synonym: "absent ocular vesicle" EXACT [] synonym: "absent ophthalmic vesicle" EXACT [] synonym: "absent vesicula ophthalmica" EXACT [] is_a: MP:0003425 ! abnormal optic vesicle formation [Term] id: MP:0006295 name: absent sclerotome def: "absence of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord to give rise to the ribs and vertebrae" [MGI:anna] is_a: MP:0006029 ! abnormal sclerotome morphology [Term] id: MP:0006296 name: arachnodactyly def: "the digits are abnormally long and slender" [ISBN:0-8036-0655-99, MGI:llw2] subset: Sanger_Terms synonym: "achromachia" EXACT [] synonym: "spider fingers" NARROW [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0006297 name: loss of abdominal adipose tissue def: "OBSOLETE. reduction in amount or absence of adipose tissue associated with internal organs" [MGI:llw2] comment: This term has been rendered obsolete. Use decreased abdominal adipose tissue amount MP:0008853 instead. is_obsolete: true consider: MP:0008844 [Term] id: MP:0006298 name: abnormal platelet activation def: "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb] synonym: "abnormal thrombocyte activation" RELATED [] is_a: MP:0005464 ! abnormal platelet physiology is_a: MP:0009676 ! abnormal hemostasis [Term] id: MP:0006299 name: abnormal latent inhibition of conditioning behavior def: "anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus" [http://dionysus.psych.wisc.edu/ARL/research-current.html, MGI:brs, MGI:smb] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0006300 name: abnormal entorhinal cortex morphology def: "any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus" [MGI:brs] synonym: "abnormal Brodmann's area 28 morphology" EXACT [] synonym: "abnormal entorhinal area morphology" EXACT [] is_a: MP:0004168 ! abnormal parahippocampal gyrus morphology [Term] id: MP:0006301 name: abnormal mesenchyme morphology def: "any structural anomaly of the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems" [MGI:mnk] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0006302 name: abnormal ectomesenchyme morphology def: "any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches" [MGI:mnk, PMID:17067568] is_a: MP:0006301 ! abnormal mesenchyme morphology is_a: MP:0011260 ! abnormal head mesenchyme morphology [Term] id: MP:0006303 name: abnormal retinal nerve fiber layer morphology def: "any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve" [ISBN:0-914294-08-3, MGI:smb] synonym: "abnormal stratum opticum morphology" EXACT [] is_a: MP:0006069 ! abnormal retinal neuronal layer morphology [Term] id: MP:0006304 name: abnormal seminiferous epithelium morphology def: "any structural anomaly of the epithelial cells of the seminiferous tubules" [MGI:mberry, MGI:smb] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0006305 name: abnormal optic eminence morphology def: "any structural anomaly of the embryonic structure that gives rise to the corneal ectoderm" [http://embryology.med.unsw.edu.au/Notes/eye.htm#stage13, MGI:smb, PMID:17334657] is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0006306 name: abnormal nasal pit morphology def: "any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes" [ISBN:0-683-40008-8, MGI:csmith, MGI:smb] synonym: "abnormal olfactory pit morphology" EXACT [] is_a: MP:0003115 ! abnormal respiratory system development is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0006307 name: abnormal seminiferous tubule size def: "alteration in the diameter of the tubules in the testes where spermatogenesis occurs" [MGI:smb] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0006308 name: enlarged seminiferous tubules def: "increased diameter of the tubules in the testes where spermatogenesis occurs" [MGI:smb] is_a: MP:0006307 ! abnormal seminiferous tubule size [Term] id: MP:0006309 name: decreased retinal ganglion cell number def: "reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith, MGI:smb] synonym: "reduced retinal ganglion cell number" EXACT [] is_a: MP:0000966 ! decreased sensory neuron number is_a: MP:0008056 ! abnormal retinal ganglion cell morphology [Term] id: MP:0006310 name: retinoblastoma def: "a malignant tumor of the retina composed of cells arising from the retinoblasts" [ISBN:0-8036-0655-99, MGI:rbabiuk] is_a: MP:0008021 ! blastoma is_a: MP:0010303 ! increased retina tumor incidence [Term] id: MP:0006315 name: abnormal urine protein level def: "anomaly in the amount of protein in the urine" [MGI:smb] synonym: "abnormal kidney protein excretion" EXACT [] synonym: "abnormal renal protein excretion" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0006316 name: increased urine sodium level alt_id: MP:0005569 alt_id: MP:0006275 def: "higher than normal amount of sodium in the urine" [MGI:csmith, MGI:smb] synonym: "increased sodium excretion" EXACT [] synonym: "natriuresis" EXACT [] is_a: MP:0006274 ! abnormal urine sodium level [Term] id: MP:0006317 name: decreased urine sodium level alt_id: MP:0005570 def: "lower than normal amount of sodium in the urine" [MGI:csmith, MGI:smb] synonym: "decreased sodium excretion" EXACT [] synonym: "reduced sodium excretion" EXACT [] synonym: "reduced urine sodium level" EXACT [] is_a: MP:0006274 ! abnormal urine sodium level [Term] id: MP:0006319 name: abnormal epididymal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the epididymis" [MGI:rbabiuk, MGI:smb] synonym: "abnormal epididymal fat depot morphology" EXACT [] synonym: "abnormal periepididymal fat pad morphology" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0006320 name: abnormal interscapular fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue located between the scapulae" [MGI:rbabiuk, MGI:smb] synonym: "abnormal interscapular fat depot morphology" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0006321 name: increased myocardial fiber number def: "increased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat, MGI:smb] synonym: "increased adult cardiomyocyte number" EXACT [] is_a: MP:0000278 ! abnormal myocardial fiber morphology [Term] id: MP:0006322 name: abnormal perichondrium morphology def: "any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage" [ISBN:0-8036-0655-99, MGI:smb] synonym: "perichondrium dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0006323 name: abnormal extraembryonic mesoderm development def: "malformation of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal primary mesoderm formation" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0006324 name: abnormal cochlear nerve fiber response def: "anomaly in the electrophysiological recordings from a single or several auditory nerve fiber(s)" [MGI:anna, MGI:smb] synonym: "abnormal auditory nerve fiber response" EXACT [] is_a: MP:0003477 ! abnormal nerve fiber response is_a: MP:0006335 ! abnormal hearing electrophysiology [Term] id: MP:0006325 name: impaired hearing def: "reduced ability to perceive auditory stimuli" [MGI:smb] synonym: "hearing loss" RELATED [] is_a: MP:0001963 ! abnormal hearing physiology [Term] id: MP:0006326 name: conductive hearing impairment def: "reduction in the ability to hear due to lesions in the external auditory canal or middle ear" [MGI:smb] is_a: MP:0006325 ! impaired hearing [Term] id: MP:0006327 name: mixed hearing impairment def: "reduced ability to hear resulting from a combination of conductive and sensorineural hearing impairment" [MGI:smb] is_a: MP:0006325 ! impaired hearing [Term] id: MP:0006328 name: nonsyndromic hearing impairment def: "a form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear" [MGI:smb] is_a: MP:0006325 ! impaired hearing [Term] id: MP:0006329 name: sensorineural hearing impairment def: "a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:smb] synonym: "perceptive hearing impairment" RELATED [] is_a: MP:0006325 ! impaired hearing [Term] id: MP:0006330 name: syndromic hearing impairment def: "hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms" [MGI:smb] is_a: MP:0006325 ! impaired hearing [Term] id: MP:0006331 name: abnormal patterning of the organ of Corti def: "anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows" [MGI:smb] is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0006332 name: abnormal cochlear potential def: "anomaly in the evoked response of the cochlea" [MGI:smb] is_a: MP:0006335 ! abnormal hearing electrophysiology [Term] id: MP:0006333 name: abnormal cochlear nucleus morphology def: "any structural anomaly of the nucleus that receives central input from the cochlear nerve" [http://cancerweb.ncl.ac.uk/, MGI:mnk, MGI:smb] is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0006334 name: abnormal susceptibility to hearing loss def: "anomaly in the sensitivity to loss of hearing related to age or environmental factors" [MGI:smb] synonym: "abnormal resistance to hearing loss" EXACT [] is_a: MP:0001963 ! abnormal hearing physiology [Term] id: MP:0006335 name: abnormal hearing electrophysiology def: "anomaly in auditory function as it relates to electrical phenomena" [MGI:smb] is_a: MP:0001963 ! abnormal hearing physiology [Term] id: MP:0006336 name: abnormal otoacoustic response def: "anomaly in the acoustic energy produced by the cochlea in the presence or absence of sound stimulation" [MGI:smb] synonym: "abnormal otoacoustic emissions" EXACT [] is_a: MP:0001963 ! abnormal hearing physiology [Term] id: MP:0006337 name: abnormal first branchial arch morphology def: "any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery" [MGI:smb] synonym: "abnormal first pharyngeal arch morphology" EXACT [] synonym: "abnormal mandibular arch morphology" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0006338 name: abnormal second branchial arch morphology def: "any structural anomaly of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils" [MGI:smb] synonym: "abnormal hyoid arch morphology" EXACT [] synonym: "abnormal second pharyngeal arch morphology" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0006339 name: abnormal third branchial arch morphology def: "any structural anomaly of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus" [MGI:smb] synonym: "abnormal third pharyngeal arch morphology" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0006340 name: abnormal fourth branchial arch morphology def: "any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus" [MGI:smb, zillmusom:http\://musom.marshall.edu/anatomy/grosshom/z_devbranc.html] synonym: "abnormal fourth pharyngeal arch morphology" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0006341 name: small first branchial arch def: "reduced size of the first branchial arch" [MGI:smb] synonym: "small first pharyngeal arch" EXACT [] is_a: MP:0006337 ! abnormal first branchial arch morphology is_a: MP:0006346 ! small branchial arch [Term] id: MP:0006342 name: absent first branchial arch def: "absence of the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery" [MGI:smb] synonym: "absent first pharyngeal arch" EXACT [] is_a: MP:0006337 ! abnormal first branchial arch morphology [Term] id: MP:0006343 name: enlarged first branchial arch def: "increased size of the first branchial arch" [MGI:smb] synonym: "enlarged first pharyngeal arch" EXACT [] is_a: MP:0006337 ! abnormal first branchial arch morphology [Term] id: MP:0006344 name: small second branchial arch def: "reduced size of the second branchial arch" [MGI:smb] synonym: "small second pharyngeal arch" EXACT [] is_a: MP:0006338 ! abnormal second branchial arch morphology is_a: MP:0006346 ! small branchial arch [Term] id: MP:0006345 name: absent second branchial arch def: "absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils" [MGI:smb] synonym: "absent second pharyngeal arch" EXACT [] is_a: MP:0006338 ! abnormal second branchial arch morphology [Term] id: MP:0006346 name: small branchial arch def: "reduced size of one or more of the branchial arches" [MGI:smb] synonym: "small pharyngeal arch" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0006347 name: abnormal sixth branchial arch morphology def: "any structural anomaly of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles" [MGI:smb, zillmusom:http\://musom.marshall.edu/anatomy/grosshom/z_devbranc.html] synonym: "abnormal sixth pharyngeal arch morphology" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology [Term] id: MP:0006348 name: abnormal circulating copper level def: "any anomaly in the blood concentration of copper" [MGI:Riken, MGI:smb] is_a: MP:0003952 ! abnormal copper level is_a: MP:0006357 ! abnormal circulating mineral level [Term] id: MP:0006349 name: decreased circulating copper level def: "less than the normal concentration of copper in the blood" [MGI:Riken, MGI:smb] synonym: "reduced circulating copper level" EXACT [] is_a: MP:0006348 ! abnormal circulating copper level [Term] id: MP:0006350 name: increased circulating copper level def: "greater than normal concentration of copper in the blood" [MGI:Riken, MGI:smb] is_a: MP:0006348 ! abnormal circulating copper level [Term] id: MP:0006351 name: abnormal glycosylated hemoglobin level def: "aberrant concentration in the blood of modified form of hemoglobin with an attached saccharide molecule; this is commonly used to estimate blood glucose levels over the lifespan of the red blood cell" [MGI:Riken, MGI:smb] synonym: "abnormal glycosylated hemoglobin A1c level" EXACT [] synonym: "abnormal HbA1c levels" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0005563 ! abnormal hemoglobin content [Term] id: MP:0006352 name: decreased glycosylated hemoglobin level def: "lower than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule" [MGI:Riken, MGI:smb] synonym: "decreased glycosylated hemoglobin A1c level" EXACT [] synonym: "decreased HbA1c level" EXACT [] synonym: "reduced glycosylated hemoglobin level" EXACT [] is_a: MP:0006351 ! abnormal glycosylated hemoglobin level [Term] id: MP:0006353 name: increased glycosylated hemoglobin level def: "greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule" [MGI:Riken, MGI:smb] synonym: "increased glycosylated hemoglobin A1c level" EXACT [] synonym: "increased HbA1c level" EXACT [] is_a: MP:0006351 ! abnormal glycosylated hemoglobin level [Term] id: MP:0006354 name: abnormal fourth branchial arch artery morphology def: "any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis" [MGI:smb] synonym: "abnormal fourth aortic arch" EXACT [] synonym: "abnormal fourth PAA" EXACT [] synonym: "abnormal fourth pharyngeal arch artery morphology" EXACT [] is_a: MP:0002672 ! abnormal branchial arch artery morphology is_a: MP:0006340 ! abnormal fourth branchial arch morphology [Term] id: MP:0006355 name: abnormal sixth branchial arch artery morphology def: "any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis" [MGI:smb] synonym: "abnormal sixth aortic arch" EXACT [] synonym: "abnormal sixth PAA" EXACT [] synonym: "abnormal sixth pharyngeal arch artery morphology" EXACT [] is_a: MP:0002672 ! abnormal branchial arch artery morphology is_a: MP:0006347 ! abnormal sixth branchial arch morphology [Term] id: MP:0006356 name: abnormal third branchial arch artery morphology def: "any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis" [MGI:smb] synonym: "abnormal carotid arch morphology" EXACT [] synonym: "abnormal third aortic arch" EXACT [] synonym: "abnormal third PAA" EXACT [] synonym: "abnormal third pharyngeal arch artery morphology" EXACT [] is_a: MP:0002672 ! abnormal branchial arch artery morphology is_a: MP:0006339 ! abnormal third branchial arch morphology [Term] id: MP:0006357 name: abnormal circulating mineral level def: "any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival" [MGI:smb] is_a: MP:0000192 ! abnormal mineral level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0006358 name: absent pinna reflex def: "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna, MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "absent ear twitch response" EXACT [] synonym: "absent Preyer's reflex" EXACT [] is_a: MP:0001485 ! abnormal pinna reflex [Term] id: MP:0006359 name: absent startle reflex def: "failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [MGI:anna, MGI:smb] subset: Europhenome_Terms is_a: MP:0001486 ! abnormal startle reflex [Term] id: MP:0006361 name: abnormal female germ cell morphology def: "any structural anomaly female germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2] is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0006362 name: abnormal male germ cell morphology def: "any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2] is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0006363 name: absent auchene hairs def: "absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0000405 ! abnormal auchene hair morphology [Term] id: MP:0006364 name: absent awl hair def: "absence of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0000400 ! abnormal awl hair morphology [Term] id: MP:0006365 name: absent guard hair def: "absence of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2, MGI:llw2] subset: Sanger_Terms synonym: "absent monotrich hair" EXACT [] is_a: MP:0000397 ! abnormal guard hair morphology [Term] id: MP:0006366 name: absent zigzag hairs def: "absence of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0000402 ! abnormal zigzag hair morphology [Term] id: MP:0006367 name: absent sweat gland def: "absence of any of the coil glands of the skin that secrete sweat" [MGI:llw2] is_a: MP:0000674 ! abnormal sweat gland morphology [Term] id: MP:0006369 name: supernumerary incisors def: "more than the usual number of incisors, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw" [MGI:csmith, MGI:llw2] synonym: "increased incisor number" EXACT [] is_a: MP:0004033 ! supernumerary teeth is_a: MP:0005358 ! abnormal incisor morphology [Term] id: MP:0006370 name: abnormal phaeomelanin content def: "anomaly in the amount or distribution of yellow pigment in the hair" [MGI:llw2, MGI:smb] synonym: "abnormal agouti banding" RELATED [] is_a: MP:0004381 ! abnormal hair follicle melanocyte morphology [Term] id: MP:0006371 name: absent phaeomelanin def: "yellow pigment is not present" [MGI:llw2, MGI:smb] synonym: "absent agouti banding" RELATED [] is_a: MP:0006370 ! abnormal phaeomelanin content [Term] id: MP:0006372 name: impaired placental function def: "reduction in the ability of the placenta to supply nutrients or remove waste" [MGI:smb] synonym: "placental dysfunction" EXACT [] synonym: "placental insufficiency" EXACT [] is_a: MP:0010038 ! abnormal placenta physiology [Term] id: MP:0006373 name: abnormal circulating angiotensinogen level def: "anomaly in the concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I" [MGI:smb] synonym: "abnormal circulating angiotensin precursor level" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0006374 name: abnormal blood osmolality def: "OBSOLETE. anomaly in the concentration of ions in the blood" [MGI:smb] is_obsolete: true replaced_by: MP:0008996 [Term] id: MP:0006375 name: increased circulating angiotensinogen level def: "greater than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I" [MGI:smb] is_a: MP:0006373 ! abnormal circulating angiotensinogen level [Term] id: MP:0006376 name: decreased circulating angiotensinogen level def: "less than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I" [MGI:smb] synonym: "reduced circulating angiotensinogen level" EXACT [] is_a: MP:0006373 ! abnormal circulating angiotensinogen level [Term] id: MP:0006377 name: abnormal vestibulocollic reflex def: "any anomaly in the neural reflex which results from activation of afferents from the vestibular organs and uses neck movements to stabilize the head position in space" [MGI:anna, MGI:smb] synonym: "abnormal VCR" EXACT [] synonym: "abnormal vestibulo-collic reflex" EXACT [] is_a: MP:0001961 ! abnormal reflex is_a: MP:0004742 ! abnormal vestibular system physiology [Term] id: MP:0006378 name: abnormal spermatogonia morphology def: "any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes" [ISBN:0-8036-0655-99, MGI:smb] synonym: "abnormal spermatogonium" EXACT [] is_a: MP:0006362 ! abnormal male germ cell morphology [Term] id: MP:0006379 name: abnormal spermatocyte morphology def: "any structural anomaly of male germ cells that through meiosis give rise to spermatids" [ISBN:0-8036-0655-99, MGI:smb] is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0006362 ! abnormal male germ cell morphology [Term] id: MP:0006380 name: abnormal spermatid morphology def: "any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99, MGI:smb] is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0006362 ! abnormal male germ cell morphology [Term] id: MP:0006382 name: abnormal lung epithelium morphology def: "any structural anomaly of the epithelial layer of the lung" [MGI:rbabiuk, MGI:smb] is_a: MP:0001175 ! abnormal lung morphology is_a: MP:0010942 ! abnormal respiratory epithelium morphology [Term] id: MP:0006383 name: abnormal cochlear frequency tuning def: "any anomaly in the frequency resolution of the cochlea, normally determined by the passive mechanical properties of the basilar membrane and active feedback from the outer hair cells which detect and amplify sound-induced basilar membrane motions" [MGI:anna] synonym: "abnormal cochlear tuning" EXACT [] synonym: "abnormal frequency resolution of the cochlea" EXACT [] is_a: MP:0006335 ! abnormal hearing electrophysiology [Term] id: MP:0006384 name: enhanced cochlear frequency tuning def: "increase in the sharpness of frequency resolution of the cochlea" [MGI:anna] synonym: "sharpened cochlear frequency tuning" EXACT [] is_a: MP:0006383 ! abnormal cochlear frequency tuning [Term] id: MP:0006386 name: absent somites def: "missing all somites" [MGI:rbabiuk] is_a: MP:0001690 ! failure of somite differentiation [Term] id: MP:0006387 name: abnormal T cell number def: "deviation from the normal count of T cells" [MGI:smb] synonym: "abnormal T lymphocyte number" EXACT [] synonym: "abnormal T-cell number" EXACT [] is_a: MP:0000717 ! abnormal lymphocyte cell number is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0006388 name: abnormal auditory summating potential def: "any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities" [MGI:csmith, PMID:1526886] synonym: "abnormal SP" EXACT [] synonym: "abnormal summating potential" EXACT [] is_a: MP:0006335 ! abnormal hearing electrophysiology [Term] id: MP:0006389 name: abnormal vestibular endolymph def: "change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential" [MGI:smb] is_a: MP:0004885 ! abnormal endolymph [Term] id: MP:0006390 name: abnormal cochlear endolymph def: "change in the normal production (volume) or ionic homeostasis of the fluid contained within the cochlea of the inner ear" [MGI:smb] is_a: MP:0004885 ! abnormal endolymph [Term] id: MP:0006391 name: abnormal vestibular endolymph ionic homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph" [MGI:smb] is_a: MP:0006389 ! abnormal vestibular endolymph [Term] id: MP:0006392 name: abnormal nucleus pulposus morphology def: "any structural anomaly of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord" [MGI:llw2] is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0006393 name: absent nucleus pulposus def: "missing the notochord remnant normally found in the center of the intervertebral disc" [MGI:llw2] is_a: MP:0006392 ! abnormal nucleus pulposus morphology [Term] id: MP:0006394 name: abnormal vertebral epiphyseal plate morphology def: "any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development" [ISBN:0-914294-08-3, MGI:llw2, MGI:smb] synonym: "abnormal vertebral epiphysial plate" EXACT [] synonym: "abnormal vertebral growth plate" EXACT [] is_a: MP:0005225 ! abnormal vertebrae development is_a: MP:0006395 ! abnormal epiphyseal plate morphology [Term] id: MP:0006395 name: abnormal epiphyseal plate morphology def: "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352] synonym: "abnormal epiphyseal cartilage" EXACT [] synonym: "abnormal epiphysial plate morphology" EXACT [] synonym: "abnormal growth plate morphology" EXACT [] is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0006396 name: decreased long bone epiphyseal plate size def: "reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles" [MGI:smb] synonym: "reduced long bone epiphyseal plate size" EXACT [] synonym: "short long bone epiphyseal plate" EXACT [] is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0006397 name: disorganized long bone epiphyseal plate def: "a lack of the regular arrangement of the cells or zones of the epiphyseal plate" [MGI:smb] is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0006398 name: increased long bone epiphyseal plate size def: "greater than the normal size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles" [MGI:smb] synonym: "enlarged long bone epiphyseal plate" EXACT [] synonym: "expanded long bone epiphyseal plate" EXACT [] is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0006399 name: abnormal long bone epiphyseal ossification zone morphology def: "any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited" [http://137.222.110.150/calnet/Introanat/Introanat.htm, MGI:smb] is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0006400 name: decreased molar number def: "reduction in the number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [MGI:monikat] synonym: "reduced molar number" EXACT [] synonym: "reduced number of molars" EXACT [] is_a: MP:0002689 ! abnormal molar morphology [Term] id: MP:0006401 name: absent preputial gland def: "a lack of the sebaceous glands of the corona and neck of the glans penis" [MGI:monikat] synonym: "absent Tyson's glands" EXACT [] is_a: MP:0002717 ! abnormal preputial gland morphology [Term] id: MP:0006402 name: small molars def: "reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [MGI:smb] is_a: MP:0002689 ! abnormal molar morphology [Term] id: MP:0006403 name: abnormal cochlear endolymph ionic homeostasis def: "anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content" [MGI:anna] is_a: MP:0002630 ! abnormal endocochlear potential [Term] id: MP:0006404 name: abnormal lumbar dorsal root ganglion morphology def: "any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae" [MGI:smb] synonym: "abnormal lumbar dorsal root ganglia morphology" EXACT [] synonym: "abnormal lumbar DRG morphology" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0006405 name: abnormal L3 dorsal root ganglion morphology def: "any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the third lumbar vertebra" [MGI:csmith, MGI:smb] synonym: "abnormal L3 dorsal root ganglia morphology" EXACT [] synonym: "abnormal L3 DRG morphology" EXACT [] is_a: MP:0006404 ! abnormal lumbar dorsal root ganglion morphology [Term] id: MP:0006408 name: dorsal root ganglion hypoplasia def: "underdevelopment or reduced size, usually due to a reduced cell number, of a dorsal root ganglion or ganglia" [MGI:csmith, MGI:smb] synonym: "decreased cellularity of dorsal root ganglion" EXACT [] synonym: "dorsal root ganglia hypoplasia" EXACT [] synonym: "DRG hypoplasia" EXACT [] is_a: MP:0000964 ! small dorsal root ganglion [Term] id: MP:0006409 name: vestibular ganglion hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cell bodies, in the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus" [MGI:anna] synonym: "hypoplastic Scarpa's ganglion" EXACT [] synonym: "Scarpa ganglion hypoplasia" EXACT [] is_a: MP:0003987 ! small vestibular ganglion [Term] id: MP:0006410 name: abnormal common myeloid progenitor cell morphology def: "any structrual anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage" [MGI:smb] synonym: "abnormal cfu-gemm morphology" RELATED [ISBN:0878932437] synonym: "abnormal CFU-S morphology" RELATED [ISBN:0878932437] synonym: "abnormal CMPs" EXACT [ISBN:0878932437] synonym: "abnormal colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte morphology" RELATED [ISBN:0878932437] synonym: "abnormal multipotential myeloid stem cell morphology" RELATED [ISBN:0878932437] synonym: "abnormal myeloid stem cell morphology" RELATED [ISBN:0878932437] synonym: "abnormal pluripotent stem cell (bone marrow) morphology" RELATED [ISBN:0878932437] synonym: "myeloid stem cell abnormalities" EXACT [] is_a: MP:0002123 ! abnormal hematopoiesis is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0006411 name: upturned snout def: "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs, MGI:smb] subset: Sanger_Terms is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0006412 name: abnormal T cell apoptosis def: "change in the timing or the number of T cells undergoing programmed cell death" [MGI:brs, MGI:smb] synonym: "abnormal T lymphocyte apoptosis" EXACT [] synonym: "abnormal T-cell apoptosis" EXACT [] synonym: "abnormal T-lymphocyte apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0006413 name: increased T cell apoptosis def: "increase in the number of T cells undergoing programmed cell death" [MGI:brs, MGI:smb] synonym: "increased T lymphocyte apoptosis" EXACT [] synonym: "increased T-cell apoptosis" EXACT [] synonym: "increased T-lymphocyte apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0006412 ! abnormal T cell apoptosis [Term] id: MP:0006414 name: decreased T cell apoptosis def: "decrease in the number of T cells undergoing programmed cell death" [MGI:smb] synonym: "decreased T lymphocyte apoptosis" EXACT [] synonym: "decreased T-cell apoptosis" EXACT [] synonym: "decreased T-lymphocyte apoptosis" EXACT [] synonym: "reduced T lymphocyte apoptosis" EXACT [] synonym: "reduced T-cell apoptosis" EXACT [] synonym: "reduced T-lymphocyte apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0006412 ! abnormal T cell apoptosis [Term] id: MP:0006415 name: absent testes def: "absence of the male reproductive glands containing the germ cells" [MGI:anna] subset: Europhenome_Terms synonym: "anorchia" EXACT [] synonym: "anorchidism" EXACT [] synonym: "anorchism" EXACT [] synonym: "bilateral testicular agenesis" EXACT [] synonym: "bilateral testicular aplasia" EXACT [] synonym: "congenital absence of both testes" EXACT [] synonym: "male agonadism" EXACT [] is_a: MP:0001146 ! abnormal testis morphology is_a: MP:0005644 ! agonadal [Term] id: MP:0006416 name: abnormal rete testis morphology def: "any structural anomaly of the network of canals at the termination of the straight tubules in the mediastinum testis" [MGI:anna] synonym: "abnormal Haller rete" EXACT [] synonym: "abnormal rete halleri" EXACT [] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0006417 name: rete testis obstruction def: "any impediment or blockage of the network of canals at the termination of the straight tubules in the mediastinum testis" [MGI:anna] synonym: "blockade of rete testis" EXACT [] is_a: MP:0006416 ! abnormal rete testis morphology [Term] id: MP:0006418 name: abnormal testis cord formation def: "any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords" [MGI:anna] synonym: "abnormal seminiferous cords" EXACT [] synonym: "abnormal testis cords" EXACT [] synonym: "defective testis cord formation" NARROW [] synonym: "impaired testis cord differentiation" NARROW [] synonym: "incomplete testis cord development" NARROW [] is_a: MP:0003830 ! abnormal testis development [Term] id: MP:0006419 name: disorganized testis cords def: "derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence" [MGI:anna] is_a: MP:0006418 ! abnormal testis cord formation [Term] id: MP:0006420 name: abnormal peritubular myoid cell morphology def: "any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule" [MGI:anna] comment: During testis cord differentiation, PTM cells surround the testis cord, separating it from the peritubular space and contributing to the production of the basal lamina. synonym: "abnormal peritubular contractile cells" EXACT [] synonym: "abnormal PTM cells" EXACT [] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0006421 name: decreased number of peritubular myoid cells def: "reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule" [MGI:anna] synonym: "reduced number of peritubular contractile cells" EXACT [] synonym: "reduced PTM cell numbers" EXACT [] is_a: MP:0006420 ! abnormal peritubular myoid cell morphology [Term] id: MP:0006422 name: mammary adenoacanthoma def: "higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland" [ISBN:0-8036-0655-9, MGI:rbabiuk, MGI:smb] is_a: MP:0001883 ! mammary adenocarcinoma [Term] id: MP:0006423 name: dilated rete testis def: "an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid" [MGI:anna] synonym: "rete testis dilation" EXACT [] is_a: MP:0006416 ! abnormal rete testis morphology [Term] id: MP:0006424 name: absent testis cords def: "missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence" [MGI:anna] synonym: "absent seminiferous cords" EXACT [] is_a: MP:0006418 ! abnormal testis cord formation [Term] id: MP:0006425 name: absent Mullerian ducts def: "absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [MGI:anna] synonym: "absent Meller ducts" EXACT [] synonym: "absent paramesonephric ducts" EXACT [] synonym: "Mullerian duct agenesis" EXACT [] synonym: "Mullerian duct aplasia" EXACT [] is_a: MP:0003826 ! abnormal Mullerian duct morphology [Term] id: MP:0006426 name: Mullerian duct degeneration def: "a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [MGI:anna] synonym: "Muller duct degeneration" EXACT [] synonym: "paramesonephric duct degeneration" EXACT [] is_a: MP:0003826 ! abnormal Mullerian duct morphology [Term] id: MP:0006427 name: ectopic Leydig cells def: "abnormal position of the interstitial cells of the seminiferous tubules, which normally reside in the peritubular space and extend from the coelomic surface to the dorsal surface of the gonad" [MGI:anna] synonym: "heterotopic Leydig cells" EXACT [] is_a: MP:0002786 ! abnormal Leydig cell morphology [Term] id: MP:0006428 name: ectopic Sertoli cells def: "abnormal position of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [MGI:anna] synonym: "heterotopic Sertoli cells" EXACT [] is_a: MP:0002784 ! abnormal Sertoli cell morphology [Term] id: MP:0006429 name: abnormal hyaline cartilage morphology def: "any structural anomaly of the bluish-white, glassy, translucent nonvascular, resilient, flexible connective tissue; found primarily in articular cartilage, costal cartilages, the nasal septum, the larynx, and the trachea" [ISBN:0-8036-0655-9, MGI:rbabiuk] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0006430 name: abnormal elastic cartilage morphology def: "any structural anomaly of the nonvascular, resilient, flexible connective tissue containing elastin fibers; found primarily in the epiglottis, external ear, and auditory tubes" [ISBN:0-8036-0655-9, MGI:smb] synonym: "abnormal yellow cartilage morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0006431 name: abnormal fibrocartilage morphology def: "any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks" [ISBN:0-8036-0655-9, MGI:smb] synonym: "abnormal fibrous cartilage morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0006432 name: abnormal costal cartilage morphology def: "any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it" [ISBN:0-8036-0655-9, MGI:smb] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0006433 name: abnormal articular cartilage morphology def: "any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone" [ISBN:0-8036-0655-9, MGI:smb] is_a: MP:0006429 ! abnormal hyaline cartilage morphology [Term] id: MP:0008000 name: increased ovary tumor incidence def: "greater than the expected number of neoplams in the ovary occurring in a specific population in a given time period" [MGI:csmith] synonym: "ovarian tumor" EXACT [] is_a: MP:0009590 ! gonad tumor is_a: MP:0010288 ! increased gland tumor incidence [Term] id: MP:0008001 name: hypochlorhydria def: "reduced hydrochloric acid content of the gastric secretions" [MGI:csmith] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0008002 name: hyperchlorhydria def: "increased hydrochloric acid content of the gastric secretions" [MGI:csmith] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0008003 name: achlorhydria def: "absence of hydrochloric acid in the gastric secretions" [MGI:csmith] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0008004 name: abnormal stomach pH def: "anomaly in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, as measured by the concentration of the hydrogen ion" [MGI:csmith] synonym: "abnormal gastric pH" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0008005 name: decreased stomach pH def: "change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is increased, as indicated by the increased concentration of hydrogen ion" [MGI:csmith] synonym: "reduced stomach pH" EXACT [] is_a: MP:0008004 ! abnormal stomach pH [Term] id: MP:0008006 name: increased stomach pH def: "change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion" [MGI:csmith] synonym: "elevated stomach pH" EXACT [] is_a: MP:0008004 ! abnormal stomach pH [Term] id: MP:0008007 name: abnormal cellular replicative senescence def: "anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [GO:0001302, MGI:smb] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0008008 name: early cellular replicative senescence def: "increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [MGI:smb] synonym: "premature cellular replicative senescence" EXACT [] is_a: MP:0008007 ! abnormal cellular replicative senescence [Term] id: MP:0008009 name: delayed cellular replicative senescence def: "slower progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [MGI:smb] synonym: "late senescence" EXACT [] is_a: MP:0008007 ! abnormal cellular replicative senescence [Term] id: MP:0008010 name: gastric adenocarcinoma def: "malignant neoplasm of epithelial cells in the stomach" [MGI:llw2] synonym: "stomach adenocarcinoma" EXACT [] is_a: MP:0009308 ! adenocarcinoma is_a: MP:0010301 ! increased stomach tumor incidence [Term] id: MP:0008011 name: intestine polyps def: "abnormal tissue masses that protrude into the lumen of the intestine and are tethered to the wall of the intestine" [MESH:C23.300.825.411, MGI:llw2] synonym: "intestinal polyposis" EXACT [] synonym: "intestinal polyps" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology is_a: MP:0010352 ! gastrointestinal tract polyps [Term] id: MP:0008012 name: duodenum polyps def: "development of numerous growths that are connected to and protrude from the mucous membrane of the duodenum" [MGI:llw2] synonym: "duodenal polyposis" EXACT [] synonym: "duodenal polyps" EXACT [] is_a: MP:0003271 ! abnormal duodenum morphology is_a: MP:0008011 ! intestine polyps [Term] id: MP:0008013 name: cecum polyps def: "development of numerous growths that are connected to and protrude from the mucous membrane of the cecum" [MGI:llw2] synonym: "caecum polyps" EXACT [] synonym: "cecal polyps" EXACT [] synonym: "cecum polyposis" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology is_a: MP:0008011 ! intestine polyps [Term] id: MP:0008014 name: increased lung tumor incidence def: "greater than the expected number of neoplasms in the lung, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:llw2] is_a: MP:0010298 ! increased respiratory system tumor incidence [Term] id: MP:0008015 name: abnormal female inguinal canal morphology def: "any structural anomaly of the passage in the lower abdominal wall through which the round ligament, nerves and vessels pass from the pelvic cavity to labia majora" [MGI:llw2] is_a: MP:0001119 ! abnormal female reproductive system morphology is_a: MP:0003673 ! abnormal inguinal canal morphology [Term] id: MP:0008016 name: abnormal male inguinal canal morphology def: "any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels pass from the pelvic cavity to the scrotum" [MGI:llw2] synonym: "abnormal male abdominal canal morphology" EXACT [] synonym: "abnormal male canalis inguinalis morphology" EXACT [] synonym: "abnormal male Velpeau canal morphology" EXACT [] is_a: MP:0001145 ! abnormal male reproductive system morphology is_a: MP:0003673 ! abnormal inguinal canal morphology [Term] id: MP:0008017 name: inguinal cysts def: "benign epithelial growths on the walls of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively" [MGI:llw2] is_a: MP:0003673 ! abnormal inguinal canal morphology [Term] id: MP:0008018 name: increased facial tumor incidence def: "greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:llw2] is_a: MP:0010293 ! increased integument system tumor incidence [Term] id: MP:0008019 name: increased liver tumor incidence def: "greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith, MGI:llw2] synonym: "increased hepatic tumor incidence" EXACT [] is_a: MP:0010297 ! increased hepatobiliary system tumor incidence [Term] id: MP:0008020 name: abnormal dermal mast cell morphology def: "any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation" [MGI:llw2] is_a: MP:0000359 ! abnormal mast cell morphology is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0008021 name: blastoma def: "a fast growing and invasive tumor composed chiefly or entirely of immature undifferentiated cells that have embryonic characteristics resembling the primordium of the organ in which the tumor arose" [MGI:csmith] is_a: MP:0002018 ! malignant tumors [Term] id: MP:0008022 name: dilated heart ventricle def: "the luminal space of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith] synonym: "dilated heart ventricles" EXACT [] synonym: "heart ventricle dilation" EXACT [] synonym: "heart ventricular dilation" EXACT [] is_a: MP:0004937 ! dilated heart is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0008023 name: abnormal styloid process morphology def: "any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments" [MGI:anna] synonym: "abnormal processus styloideus ossis temporalis" EXACT [] is_a: MP:0005272 ! abnormal temporal bone morphology [Term] id: MP:0008024 name: absent lymph nodes def: "absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched" [MGI:csmith] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0008025 name: brain vacuoles def: "the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states" [MGI:csmith] synonym: "vacuoles in the brain" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0008026 name: abnormal brain white matter morphology def: "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith] synonym: "abnormal brain alba morphology" EXACT [] synonym: "abnormal brain white substance morphology" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0008027 name: abnormal spinal cord white matter morphology def: "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith] synonym: "abnormal spinal cord alba morphology" EXACT [] synonym: "abnormal spinal cord white substance morphology" EXACT [] xref: MA:0000910 is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0008028 name: pregnancy-related premature death def: "death occurring before the normal life span of an organism, occurring during pregnancy, parturition or lactation" [MGI:csmith, MGI:hdene] is_a: MP:0002083 ! premature death [Term] id: MP:0008029 name: abnormal paraxial mesoderm morphology def: "any structural anomaly of the mesoderm lying at either side of the midline embryonic notochord; on segmentation, paraxial mesoderm forms the paired somites" [MGI:anna] is_a: MP:0001680 ! abnormal mesoderm development [Term] id: MP:0008030 name: abnormal Cajal-Retzius cell morphology def: "any structural anomaly of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus" [MGI:monikat] is_a: MP:0000792 ! abnormal cortical marginal zone morphology is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0008031 name: decreased Cajal-Retzius cell number def: "reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus" [MGI:monikat] synonym: "decreased number of Cajal-Retzius cells" EXACT [] synonym: "reduced Cajal-Retzius cell number" EXACT [] synonym: "reduced number of Cajal-Retzius cells" EXACT [] is_a: MP:0008030 ! abnormal Cajal-Retzius cell morphology is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0008032 name: abnormal lipolysis def: "anomaly in the process of the hydrolysis of fat into free fatty acids" [MGI:csmith] synonym: "abnormal lipoclasis" EXACT [] synonym: "abnormal lipodieresis" EXACT [] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0008033 name: impaired lipolysis def: "reduction in the rate of the hydrolysis of fat into free fatty acids" [MGI:csmith] synonym: "decreased lipolysis" EXACT [] synonym: "reduced lipolysis" EXACT [] is_a: MP:0008032 ! abnormal lipolysis [Term] id: MP:0008034 name: enhanced lipolysis def: "increase in the rate of the hydrolysis of fat into free fatty acids" [MGI:csmith] synonym: "increased lipolysis" EXACT [] is_a: MP:0008032 ! abnormal lipolysis [Term] id: MP:0008035 name: behavioral arrest def: "locomotor activity is interrupted by sudden periods of no movement" [MGI:llw2] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0008036 name: abnormal NK T cell morphology def: "any structural anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865] comment: Note that these are a distinct cell population from NK cells. synonym: "abnormal natural killer T cell morphology" EXACT [] synonym: "abnormal natural killer T lymphocyte morphology" EXACT [] synonym: "abnormal natural killer T-cell morphology" EXACT [] synonym: "abnormal natural killer T-lymphocyte morphology" EXACT [] synonym: "abnormal natural T cell morphology" EXACT [] synonym: "abnormal NK T lymphocyte morphology" EXACT [] synonym: "abnormal NK T-cell morphology" EXACT [] synonym: "abnormal NK T-lymphocyte morphology" EXACT [] synonym: "abnormal NKT cell morphology" EXACT [] is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0008037 name: abnormal T cell morphology def: "any structural anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation" [MGI:csmith] synonym: "abnormal T cell morphology/development" RELATED [] synonym: "abnormal T lymphocyte morphology" EXACT [] synonym: "abnormal T-cell morphology" EXACT [] synonym: "abnormal T-lymphocyte morphology" EXACT [] synonym: "abnormal thymocyte morphology" NARROW [] synonym: "T lymphocyte abnormalities" EXACT [] synonym: "T lymphocyte defects" EXACT [] synonym: "T-cell abnormalities" EXACT [] is_a: MP:0002619 ! abnormal lymphocyte morphology [Term] id: MP:0008038 name: abnormal NK T cell number def: "deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865] synonym: "abnormal natural killer T cell number" EXACT [] synonym: "abnormal natural killer T lymphocyte number" EXACT [] synonym: "abnormal natural killer T-cell number" EXACT [] synonym: "abnormal natural killer T-lymphocyte number" EXACT [] synonym: "abnormal natural T cell number" EXACT [] synonym: "abnormal NK T lymphocyte number" EXACT [] synonym: "abnormal NK T-cell number" EXACT [] synonym: "abnormal NK T-lymphocyte number" EXACT [] synonym: "abnormal NKT cell number" EXACT [] is_a: MP:0006387 ! abnormal T cell number is_a: MP:0008036 ! abnormal NK T cell morphology [Term] id: MP:0008039 name: increased NK T cell number def: "greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865] subset: Sanger_Terms synonym: "increased natural killer T cell number" EXACT [] synonym: "increased natural killer T lymphocyte number" EXACT [] synonym: "increased natural killer T-cell number" EXACT [] synonym: "increased natural killer T-lymphocyte number" EXACT [] synonym: "increased natural T cell number" EXACT [] synonym: "increased NK T lymphocyte number" EXACT [] synonym: "increased NK T-cell number" EXACT [] synonym: "increased NK T-lymphocyte number" EXACT [] synonym: "increased NKT cell number" EXACT [] is_a: MP:0005015 ! increased T cell number is_a: MP:0008038 ! abnormal NK T cell number [Term] id: MP:0008040 name: decreased NK T cell number def: "reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865] subset: Sanger_Terms synonym: "decreased natural killer T cell number" EXACT [] synonym: "decreased natural killer T lymphocyte number" EXACT [] synonym: "decreased natural killer T-cell number" EXACT [] synonym: "decreased natural killer T-lymphocyte number" EXACT [] synonym: "decreased natural T cell number" EXACT [] synonym: "decreased NK T lymphocyte number" EXACT [] synonym: "decreased NK T-cell number" EXACT [] synonym: "decreased NK T-lymphocyte number" EXACT [] synonym: "decreased NKT cell number" EXACT [] synonym: "reduced natural killer T cell number" EXACT [] synonym: "reduced natural killer T lymphocyte number" EXACT [] synonym: "reduced natural killer T-cell number" EXACT [] synonym: "reduced natural killer T-lymphocyte number" EXACT [] synonym: "reduced natural T cell number" EXACT [] synonym: "reduced NK T cell number" EXACT [] synonym: "reduced NK T lymphocyte number" EXACT [] synonym: "reduced NK T-cell number" EXACT [] synonym: "reduced NK T-lymphocyte number" EXACT [] synonym: "reduced NKT cell number" EXACT [] is_a: MP:0005018 ! decreased T cell number is_a: MP:0008038 ! abnormal NK T cell number [Term] id: MP:0008041 name: absent NK T cells def: "absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865] synonym: "absent natural killer T cell" EXACT [] synonym: "absent natural killer T lymphocyte" EXACT [] synonym: "absent natural killer T-cell" EXACT [] synonym: "absent natural killer T-lymphocyte" EXACT [] synonym: "absent natural T cell" EXACT [] synonym: "absent NK T lymphocyte" EXACT [] synonym: "absent NK T-cell" EXACT [] synonym: "absent NK T-lymphocyte" EXACT [] synonym: "absent NKT cell" EXACT [] is_a: MP:0008040 ! decreased NK T cell number is_a: MP:0008070 ! absent T cells [Term] id: MP:0008042 name: abnormal NK T cell physiology def: "any functional anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865] synonym: "abnormal natural killer T cell physiology" EXACT [] synonym: "abnormal natural killer T lymphocyte physiology" EXACT [] synonym: "abnormal natural killer T-cell physiology" EXACT [] synonym: "abnormal natural killer T-lymphocyte physiology" EXACT [] synonym: "abnormal natural T cell physiology" EXACT [] synonym: "abnormal NK T lymphocyte physiology" EXACT [] synonym: "abnormal NK T-cell physiology" EXACT [] synonym: "abnormal NK T-lymphocyte physiology" EXACT [] synonym: "abnormal NKT cell physiology" EXACT [] is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0008043 name: abnormal NK cell number def: "deviation in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [ISBN:0781735149, MGI:csmith, PMID:15771571] synonym: "abnormal natural killer cell number" EXACT [] xref: CL:0000623 xref: FMA:63147 xref: FMA:83601 is_a: MP:0000717 ! abnormal lymphocyte cell number is_a: MP:0005068 ! abnormal NK cell morphology [Term] id: MP:0008044 name: increased NK cell number def: "greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [ISBN:0781735149, MGI:csmith, PMID:15771571] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased natural killer cell number" EXACT [] xref: CL:0000623 xref: FMA:63147 xref: FMA:83601 is_a: MP:0005013 ! increased lymphocyte cell number is_a: MP:0008043 ! abnormal NK cell number [Term] id: MP:0008045 name: decreased NK cell number def: "reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [ISBN:0781735149, MGI:csmith, PMID:15771571] subset: Sanger_Terms synonym: "decreased natural killer cell number" EXACT [] synonym: "reduced natural killer cell number" EXACT [] synonym: "reduced NK cell number" EXACT [] xref: CL:0000623 xref: FMA:63147 xref: FMA:83601 is_a: MP:0005016 ! decreased lymphocyte cell number is_a: MP:0008043 ! abnormal NK cell number [Term] id: MP:0008046 name: absent NK cells def: "absence of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [ISBN:0781735149, MGI:csmith, PMID:15771571] synonym: "absence of natural killer cells" EXACT [] synonym: "absent natural killer cells" EXACT [] xref: CL:0000623 xref: FMA:63147 xref: FMA:83601 is_a: MP:0000726 ! absent lymphocyte is_a: MP:0008045 ! decreased NK cell number [Term] id: MP:0008047 name: absent uterine NK cells def: "absence of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy" [PMID:14568979, PMID:19800965] synonym: "absent decidual natural killer cells" EXACT [] synonym: "absent decidual NK cells" EXACT [] synonym: "absent dNK cells" EXACT [] synonym: "absent GMG cells" EXACT [] synonym: "absent granulated metrial gland cells" EXACT [] synonym: "absent uNK cells" EXACT [] synonym: "absent uterine natural killer cells" EXACT [] xref: CL:0002343 is_a: MP:0008046 ! absent NK cells is_a: MP:0008876 ! decreased uterine NK cell number [Term] id: MP:0008048 name: abnormal memory T cell number def: "deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive" [CL:0000813, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149] synonym: "abnormal memory T lymphocyte number" EXACT [] synonym: "abnormal memory T-cell number" EXACT [] synonym: "abnormal memory T-lymphocyte number" EXACT [] xref: CL:0000813 is_a: MP:0006387 ! abnormal T cell number is_a: MP:0010833 ! abnormal memory T cell morphology [Term] id: MP:0008049 name: increased memory T cell number def: "increase in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive" [CL:0000813, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149] synonym: "increased memory T lymphocyte number" EXACT [] synonym: "increased memory T-cell number" EXACT [] synonym: "increased memory T-lymphocyte number" EXACT [] xref: CL:0000813 is_a: MP:0005015 ! increased T cell number is_a: MP:0008048 ! abnormal memory T cell number [Term] id: MP:0008050 name: decreased memory T cell number def: "reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive" [CL:0000813, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149] synonym: "decreased memory T lymphocyte number" EXACT [] synonym: "decreased memory T-cell number" EXACT [] synonym: "decreased memory T-lymphocyte number" EXACT [] synonym: "reduced memory T cell number" EXACT [] synonym: "reduced memory T lymphocyte number" EXACT [] synonym: "reduced memory T-cell number" EXACT [] synonym: "reduced memory T-lymphocyte number" EXACT [] xref: CL:0000813 is_a: MP:0005018 ! decreased T cell number is_a: MP:0008048 ! abnormal memory T cell number [Term] id: MP:0008051 name: abnormal memory T cell physiology def: "any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response" [http://www.biology-online.org/, MGI:adiehl, MGI:rbabiuk] is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0008052 name: abnormal serous gland morphology def: "any structural anomaly of glands that secrete watery albuminous material that often contains enzymes" [ISBN:0-683-40008-8] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0008053 name: abnormal NK cell differentiation def: "atypical production of or inability to produce mature lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [ISBN:0781735149, MGI:csmith, PMID:15771571] synonym: "abnormal natural killer cell differentiation" EXACT [] is_a: MP:0002401 ! abnormal lymphopoiesis is_a: MP:0005068 ! abnormal NK cell morphology [Term] id: MP:0008054 name: abnormal uterine NK cell morphology def: "any structural anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy" [PMID:14568979, PMID:19800965] comment: Granulated metrial gland cells are found in rodents and other species, but not in primates. The human equivalent of these cells has been described as uterine NK-cells, endometrial granulocytes or K cells. synonym: "abnormal decidual natural killer cell morphology" EXACT [] synonym: "abnormal decidual NK cell morphology" EXACT [] synonym: "abnormal dNK cell morphology" EXACT [] synonym: "abnormal GMG cell morphology" EXACT [] synonym: "abnormal granulated metrial gland cell morphology" EXACT [] synonym: "abnormal uNK cell morphology" EXACT [] synonym: "abnormal uterine natural killer cell morphology" EXACT [] xref: CL:0002343 is_a: MP:0005068 ! abnormal NK cell morphology is_a: MP:0010776 ! abnormal placenta metrial gland morphology [Term] id: MP:0008055 name: increased urine osmolality def: "increase in the amount of ions in the urine compared to the normal state" [MGI:csmith] is_a: MP:0002987 ! abnormal urine osmolality [Term] id: MP:0008056 name: abnormal retinal ganglion cell morphology def: "any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0005241 ! abnormal retinal ganglion layer morphology [Term] id: MP:0008057 name: abnormal DNA replication def: "any anomaly in the process whereby new strands of DNA are synthesized" [GO:0006260] xref: GO:0006260 is_a: MP:0005266 ! abnormal metabolism is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0008058 name: abnormal DNA repair def: "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281] xref: GO:0006281 is_a: MP:0005266 ! abnormal metabolism is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0008059 name: abnormal podocyte foot process morphology def: "any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8] synonym: "abnormal podocyte footplate morphology" EXACT [] synonym: "abnormal podocyte pedicel morphology" EXACT [] is_a: MP:0005326 ! abnormal podocyte morphology [Term] id: MP:0008060 name: abnormal podocyte slit diaphragm morphology def: "any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith] is_a: MP:0008062 ! abnormal podocyte slit junction morphology [Term] id: MP:0008061 name: absent podocyte slit diaphragm def: "absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith] is_a: MP:0008060 ! abnormal podocyte slit diaphragm morphology [Term] id: MP:0008062 name: abnormal podocyte slit junction morphology def: "any structural anomaly of the gaps between the interdigitated foot processes of the podocyte" [MGI:csmith] synonym: "abnormal podocyte filtration slit" EXACT [] synonym: "abnormal podocyte slit pore" EXACT [] is_a: MP:0005326 ! abnormal podocyte morphology [Term] id: MP:0008063 name: increased otic epithelium apoptosis def: "increase in the number of otic epithelial cells undergoing programmed cell death" [MGI:anna] is_a: MP:0006042 ! increased apoptosis is_a: MP:0009806 ! abnormal otic vesicle morphology [Term] id: MP:0008064 name: decreased otic epithelium proliferation def: "reduction in the expansion rate of the otic epithelial cell population by cell division" [MGI:anna] synonym: "reduced otic epithelium proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0009806 ! abnormal otic vesicle morphology [Term] id: MP:0008065 name: short endolymphatic duct def: "length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac" [MGI:anna] synonym: "truncated endolymphatic duct" EXACT [] is_a: MP:0008066 ! small endolymphatic duct [Term] id: MP:0008066 name: small endolymphatic duct def: "reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac" [MGI:anna] is_a: MP:0006011 ! abnormal endolymphatic duct morphology [Term] id: MP:0008067 name: retinal ganglion cell degeneration def: "degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith] is_a: MP:0003224 ! neuron degeneration is_a: MP:0008056 ! abnormal retinal ganglion cell morphology [Term] id: MP:0008068 name: absent retinal ganglion cell def: "absence of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith] is_a: MP:0006309 ! decreased retinal ganglion cell number [Term] id: MP:0008069 name: abnormal joint mobility def: "anomaly in the ability to move joints in a full range of motion and with ease" [MGI:csmith] is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0008070 name: absent T cells def: "absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation" [MGI:csmith] is_a: MP:0000726 ! absent lymphocyte is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0008071 name: absent B cells def: "absence of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens" [MGI:csmith] is_a: MP:0000726 ! absent lymphocyte is_a: MP:0005017 ! decreased B cell number [Term] id: MP:0008072 name: absent double-negative T cells def: "absence of the subset of T cells found in the thymus that express neither CD4 nor CD8" [ISBN:0-8153-1691-7] synonym: "absent double negative T cells" EXACT [] is_a: MP:0005089 ! decreased double-negative T cell number is_a: MP:0008070 ! absent T cells [Term] id: MP:0008073 name: abnormal CD4-positive T cell number def: "anomaly in the number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith] synonym: "abnormal CD4+ T cell number" EXACT [] is_a: MP:0002432 ! abnormal CD4-positive T cell morphology is_a: MP:0006387 ! abnormal T cell number [Term] id: MP:0008074 name: increased CD4-positive T cell number def: "greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased CD4+ T cell number" EXACT [] is_a: MP:0008073 ! abnormal CD4-positive T cell number is_a: MP:0008082 ! increased single-positive T cell number [Term] id: MP:0008075 name: decreased CD4-positive T cell number def: "reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased CD4+ T cell number" EXACT [] synonym: "reduced CD4+ T cell number" EXACT [] is_a: MP:0008073 ! abnormal CD4-positive T cell number is_a: MP:0008083 ! decreased single-positive T cell number [Term] id: MP:0008076 name: abnormal CD4-positive T cell differentiation def: "atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith] synonym: "abnormal CD4+ T cell differentiation" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation is_a: MP:0002432 ! abnormal CD4-positive T cell morphology [Term] id: MP:0008077 name: abnormal CD8-positive T cell number def: "anomaly in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith] synonym: "abnormal CD8+ T cell number" EXACT [] is_a: MP:0005010 ! abnormal CD8-positive T cell morphology is_a: MP:0006387 ! abnormal T cell number [Term] id: MP:0008078 name: increased CD8-positive T cell number def: "greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased CD8+ T cell number" EXACT [] is_a: MP:0008077 ! abnormal CD8-positive T cell number is_a: MP:0008082 ! increased single-positive T cell number [Term] id: MP:0008079 name: decreased CD8-positive T cell number def: "reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased CD8+ T cell number" EXACT [] synonym: "reduced CD8+ T cell number" EXACT [] is_a: MP:0008077 ! abnormal CD8-positive T cell number is_a: MP:0008083 ! decreased single-positive T cell number [Term] id: MP:0008080 name: abnormal CD8-positive T cell differentiation def: "atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith] synonym: "abnormal CD8+ T cell differentiation" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation is_a: MP:0005010 ! abnormal CD8-positive T cell morphology [Term] id: MP:0008081 name: abnormal single-positive T cell number def: "anomaly in the number of T cells bearing either CD4-positive or CD8-positive markers on their surface" [MGI:csmith] synonym: "abnormal single positive T cell number" EXACT [] is_a: MP:0002435 ! abnormal effector T cell morphology [Term] id: MP:0008082 name: increased single-positive T cell number def: "greater number of T cells bearing either CD4 or CD8 markers on their surface" [MGI:csmith] synonym: "increased single positive T cell number" EXACT [] is_a: MP:0005015 ! increased T cell number is_a: MP:0008081 ! abnormal single-positive T cell number [Term] id: MP:0008083 name: decreased single-positive T cell number def: "reduced number of T cells bearing either CD4 or CD8 markers on their surface" [MGI:csmith] synonym: "decreased single positive T cell number" EXACT [] synonym: "reduced single positive T cell number" EXACT [] is_a: MP:0005018 ! decreased T cell number is_a: MP:0008081 ! abnormal single-positive T cell number [Term] id: MP:0008084 name: absent single-positive T cells def: "absence of T cells bearing either CD4 or CD8 markers on their surface" [MGI:csmith] synonym: "absent single positive T cells" EXACT [] is_a: MP:0008070 ! absent T cells is_a: MP:0008083 ! decreased single-positive T cell number [Term] id: MP:0008085 name: abnormal T-helper 1 cell number def: "anomaly in the number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149] synonym: "abnormal helper T cell type 1 cell number" EXACT [] synonym: "abnormal helper T lymphocyte type 1 cell number" EXACT [] synonym: "abnormal helper T-cell type 1 cell number" EXACT [] synonym: "abnormal helper T-lymphocyte type 1 cell number" EXACT [] synonym: "abnormal T helper 1 cell number" EXACT [] synonym: "abnormal TH1 cell number" EXACT [] synonym: "T helper 1 cell number abnormalities" EXACT [] synonym: "TH1 cell number abnormalities" EXACT [] synonym: "Th1 cell number abnormalities" EXACT [] is_a: MP:0002433 ! abnormal T-helper 1 cell morphology is_a: MP:0008073 ! abnormal CD4-positive T cell number [Term] id: MP:0008086 name: increased T-helper 1 cell number def: "greater number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149] synonym: "increased helper T cell type 1 cell number" EXACT [] synonym: "increased helper T lymphocyte type 1 cell number" EXACT [] synonym: "increased helper T-cell type 1 cell number" EXACT [] synonym: "increased helper T-lymphocyte type 1 cell number" EXACT [] synonym: "increased T helper 1 cell number" EXACT [] synonym: "increased TH1 cell number" EXACT [] synonym: "increased Th1 cell number" EXACT [] is_a: MP:0008074 ! increased CD4-positive T cell number is_a: MP:0008085 ! abnormal T-helper 1 cell number [Term] id: MP:0008087 name: decreased T helper 1 cell number def: "reduced number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [MGI:csmith] synonym: "decreased helper T cell type 1 cell number" EXACT [] synonym: "decreased helper T lymphocyte type 1 cell number" EXACT [] synonym: "decreased helper T-cell type 1 cell number" EXACT [] synonym: "decreased helper T-lymphocyte type 1 cell number" EXACT [] synonym: "decreased TH1 cell number" EXACT [] synonym: "decreased Th1 cell number" EXACT [] synonym: "reduced helper T cell type 1 cell number" EXACT [] synonym: "reduced helper T lymphocyte type 1 cell number" EXACT [] synonym: "reduced helper T-cell type 1 cell number" EXACT [] synonym: "reduced helper T-lymphocyte type 1 cell number" EXACT [] synonym: "reduced T helper 1 cell number" EXACT [] synonym: "reduced TH1 cell number" EXACT [] synonym: "reduced Th1 cell number" EXACT [] is_a: MP:0008075 ! decreased CD4-positive T cell number is_a: MP:0008085 ! abnormal T-helper 1 cell number [Term] id: MP:0008088 name: abnormal T-helper 1 cell differentiation def: "atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149, MGI:csmith] synonym: "abnormal helper T cell type 1 cell differentiation" EXACT [] synonym: "abnormal helper T lymphocyte type 1 cell differentiation" EXACT [] synonym: "abnormal helper T-cell type 1 cell differentiation" EXACT [] synonym: "abnormal helper T-lymphocyte type 1 cell differentiation" EXACT [] synonym: "abnormal T helper 1 cell differentiation" EXACT [] synonym: "abnormal TH1 cell differentiation" EXACT [] synonym: "abnormal Th1 cell differentiation" EXACT [] is_a: MP:0002433 ! abnormal T-helper 1 cell morphology is_a: MP:0008076 ! abnormal CD4-positive T cell differentiation [Term] id: MP:0008089 name: abnormal T-helper 2 cell number def: "anomaly in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149, MGI:csmith] synonym: "abnormal helper T cell type 2 cell number" EXACT [] synonym: "abnormal helper T lymphocyte type 2 cell number" EXACT [] synonym: "abnormal helper T-cell type 2 cell number" EXACT [] synonym: "abnormal helper T-lymphocyte type 2 cell number" EXACT [] synonym: "abnormal T helper 2 cell number" EXACT [] synonym: "abnormal TH2 cell number" EXACT [] synonym: "T helper 2 cell number abnormalities" EXACT [] synonym: "TH2 cell number abnormalities" EXACT [] synonym: "Th2 cell number abnormalities" EXACT [] is_a: MP:0002434 ! abnormal T-helper 2 cell morphology is_a: MP:0008073 ! abnormal CD4-positive T cell number [Term] id: MP:0008090 name: increased T-helper 2 cell number def: "greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149, MGI:csmith] synonym: "increased helper T cell type 2 cell number" EXACT [] synonym: "increased helper T lymphocyte type 2 cell number" EXACT [] synonym: "increased helper T-cell type 2 cell number" EXACT [] synonym: "increased helper T-lymphocyte type 2 cell number" EXACT [] synonym: "increased T helper 2 cell number" EXACT [] synonym: "increased TH2 cell number" EXACT [] synonym: "increased Th2 cell number" EXACT [] is_a: MP:0008074 ! increased CD4-positive T cell number is_a: MP:0008089 ! abnormal T-helper 2 cell number [Term] id: MP:0008091 name: decreased T-helper 2 cell number def: "reduction in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149, MGI:csmith] synonym: "decreased helper T cell type 2 cell number" EXACT [] synonym: "decreased helper T lymphocyte type 2 cell number" EXACT [] synonym: "decreased helper T-cell type 2 cell number" EXACT [] synonym: "decreased helper T-lymphocyte type 2 cell number" EXACT [] synonym: "decreased T helper 2 cell number" EXACT [] synonym: "decreased TH2 cell number" EXACT [] synonym: "decreased Th2 cell number" EXACT [] synonym: "reduced helper T cell type 2 cell number" EXACT [] synonym: "reduced helper T lymphocyte type 2 cell number" EXACT [] synonym: "reduced helper T-cell type 2 cell number" EXACT [] synonym: "reduced helper T-lymphocyte type 2 cell number" EXACT [] synonym: "reduced T helper 2 cell number" EXACT [] synonym: "reduced TH2 cell number" EXACT [] synonym: "reduced Th2 cell number" EXACT [] is_a: MP:0008075 ! decreased CD4-positive T cell number is_a: MP:0008089 ! abnormal T-helper 2 cell number [Term] id: MP:0008092 name: abnormal T-helper 2 cell differentiation def: "atypical production of or inability to produce the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149, MGI:csmith] synonym: "abnormal helper T cell type 2 cell differentiation" EXACT [] synonym: "abnormal helper T lymphocyte type 2 cell differentiation" EXACT [] synonym: "abnormal helper T-cell type 2 cell differentiation" EXACT [] synonym: "abnormal helper T-lymphocyte type 2 cell differentiation" EXACT [] synonym: "abnormal T helper 2 cell differentiation" EXACT [] synonym: "abnormal TH2 cell differentiation" EXACT [] synonym: "abnormal Th2 cell differentiation" EXACT [] is_a: MP:0002434 ! abnormal T-helper 2 cell morphology is_a: MP:0008076 ! abnormal CD4-positive T cell differentiation [Term] id: MP:0008093 name: abnormal memory B cell number def: "anomaly in the number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149, MGI:csmith] is_a: MP:0002440 ! abnormal memory B cell morphology is_a: MP:0002458 ! abnormal B cell number [Term] id: MP:0008094 name: absent memory B cells def: "absence of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149, MGI:csmith] is_a: MP:0008212 ! absent mature B cells is_a: MP:0008729 ! decreased memory B cell number [Term] id: MP:0008095 name: abnormal memory B cell differentiation def: "atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149, MGI:csmith] is_a: MP:0002144 ! abnormal B cell differentiation is_a: MP:0002440 ! abnormal memory B cell morphology [Term] id: MP:0008096 name: abnormal plasma cell number def: "anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith] synonym: "abnormal plasmacyte cell number" EXACT [] is_a: MP:0002439 ! abnormal plasma cell morphology [Term] id: MP:0008097 name: increased plasma cell number def: "greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith] synonym: "plasma cell hyperplasia" EXACT [] is_a: MP:0008096 ! abnormal plasma cell number is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0008098 name: decreased plasma cell number def: "reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith] synonym: "reduced plasma cell number" EXACT [] is_a: MP:0008096 ! abnormal plasma cell number is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008099 name: abnormal plasma cell differentiation def: "atypical production of or inability to produce terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith] is_a: MP:0002144 ! abnormal B cell differentiation is_a: MP:0002439 ! abnormal plasma cell morphology [Term] id: MP:0008100 name: absent plasma cells def: "absence of the terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith] synonym: "absent plasmacyte" EXACT [] is_a: MP:0008098 ! decreased plasma cell number is_a: MP:0008212 ! absent mature B cells [Term] id: MP:0008101 name: lymph node hypoplasia def: "underdevelopment or reduced size, usually due to a reduced cell number, in the lymph nodes" [MGI:csmith] synonym: "decreased lymph node cellularity" EXACT [] synonym: "hypoplastic lymph nodes" EXACT [] is_a: MP:0002217 ! small lymph nodes [Term] id: MP:0008102 name: lymph node hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, in the lymph nodes" [MGI:csmith] synonym: "hyperplastic lymph nodes" EXACT [] synonym: "increased lymph node cellularity" EXACT [] is_a: MP:0000702 ! enlarged lymph nodes [Term] id: MP:0008103 name: amacrine cell degeneration def: "a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer" [MGI:csmith] synonym: "amacrine neuron degeneration" EXACT [] is_a: MP:0003224 ! neuron degeneration is_a: MP:0005240 ! abnormal amacrine cell morphology [Term] id: MP:0008104 name: abnormal amacrine cell number def: "anomaly in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer" [MGI:csmith] synonym: "abnormal amacrine neuron number" EXACT [] is_a: MP:0005240 ! abnormal amacrine cell morphology [Term] id: MP:0008105 name: increased amacrine cell number def: "increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina" [MGI:csmith] is_a: MP:0006006 ! increased sensory neuron number is_a: MP:0008104 ! abnormal amacrine cell number is_a: MP:0008947 ! increased neuron number [Term] id: MP:0008106 name: decreased amacrine cell number def: "reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina" [MGI:csmith] synonym: "reduced amacrine cell number" EXACT [] is_a: MP:0000966 ! decreased sensory neuron number is_a: MP:0008104 ! abnormal amacrine cell number [Term] id: MP:0008107 name: absent horizontal cells def: "absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0006068 ! abnormal horizontal cell morphology [Term] id: MP:0008108 name: abnormal small intestinal villus morphology def: "any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold" [MGI:csmith, MGI:rbabiuk] synonym: "abnormal small intestinal villi" EXACT [] is_a: MP:0000479 ! abnormal enterocyte morphology is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0008109 name: abnormal small intestinal microvillus morphology def: "any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold" [MGI:csmith, MGI:rbabiuk] synonym: "abnormal small intestinal microvilli" EXACT [] is_a: MP:0008108 ! abnormal small intestinal villus morphology [Term] id: MP:0008111 name: abnormal granulocyte differentiation def: "atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MGI:csmith] synonym: "abnormal granulopoiesis" EXACT [] is_a: MP:0001601 ! abnormal myelopoiesis is_a: MP:0002441 ! abnormal granulocyte morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0008112 name: abnormal monocyte differentiation def: "atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood" [CL:0000576, MGI:csmith] is_a: MP:0001601 ! abnormal myelopoiesis is_a: MP:0002445 ! abnormal mononuclear cell differentiation is_a: MP:0002620 ! abnormal monocyte morphology [Term] id: MP:0008113 name: abnormal macrophage differentiation def: "atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells" [CL:0000235, MGI:csmith] is_a: MP:0002445 ! abnormal mononuclear cell differentiation is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0008114 name: abnormal Kupffer cell morphology def: "any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal Kupffer's cell" EXACT [] is_a: MP:0002446 ! abnormal macrophage morphology is_a: MP:0008989 ! abnormal liver sinusoid morphology [Term] id: MP:0008115 name: abnormal dendritic cell differentiation alt_id: MP:0008116 def: "atypical production of or inability to produce a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation" [ISBN:0781735149, MGI:csmith] synonym: "abnormal dendritic cell maturation" EXACT [] is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0005461 ! abnormal dendritic cell morphology [Term] id: MP:0008117 name: abnormal Langerhans cell morphology def: "any structural anomaly of a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus" [CL:0000453, ISBN:0781735149, MGI:csmith] is_a: MP:0006173 ! abnormal myeloid dendritic cell morphology [Term] id: MP:0008118 name: absent Langerhans cell def: "absence of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus" [ISBN:0781735149, MGI:csmith] is_a: MP:0008119 ! decreased Langerhans cell number [Term] id: MP:0008119 name: decreased Langerhans cell number def: "reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus" [ISBN:0781735149, MGI:csmith] synonym: "decreased number of Langerhans cells" EXACT [] synonym: "reduced Langerhans cell number" EXACT [] synonym: "reduced number of Langerhans cells" EXACT [] is_a: MP:0008117 ! abnormal Langerhans cell morphology is_a: MP:0008122 ! decreased myeloid dendritic cell number [Term] id: MP:0008120 name: abnormal myeloid dendritic cell number def: "anomaly in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses" [MGI:csmith, PMID:10449155, PMID:9521319] is_a: MP:0006173 ! abnormal myeloid dendritic cell morphology is_a: MP:0008125 ! abnormal dendritic cell number [Term] id: MP:0008121 name: increased myeloid dendritic cell number def: "greater number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses" [PMID:10449155, PMID:9521319] is_a: MP:0008120 ! abnormal myeloid dendritic cell number is_a: MP:0008126 ! increased dendritic cell number [Term] id: MP:0008122 name: decreased myeloid dendritic cell number def: "reduction in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses" [PMID:10449155, PMID:9521319] synonym: "reduced myeloid dendritic cell number" EXACT [] is_a: MP:0008120 ! abnormal myeloid dendritic cell number is_a: MP:0008127 ! decreased dendritic cell number [Term] id: MP:0008123 name: abnormal plasmacytoid dendritic cell number def: "anomaly in the number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli" [MGI:csmith, PMID:15596797] synonym: "abnormal DC2 cell number" EXACT [] synonym: "abnormal lymphoid dendritic cell number" EXACT [] synonym: "abnormal PDC cell number" EXACT [] synonym: "abnormal pDC cell number" EXACT [] synonym: "abnormal plasmacytoid monocytes cell number" EXACT [] synonym: "abnormal plasmacytoid T cell number" EXACT [] synonym: "abnormal T-associated plasma cells cell number" EXACT [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0004242 ! abnormal plasmacytoid dendritic cell morphology is_a: MP:0008125 ! abnormal dendritic cell number [Term] id: MP:0008124 name: decreased plasmacytoid dendritic cell number def: "reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli" [MGI:csmith, PMID:15596797] synonym: "decreased DC2 cell number" EXACT [] synonym: "decreased lymphoid dendritic cell number" EXACT [] synonym: "decreased PDC cell number" EXACT [] synonym: "decreased pDC cell number" EXACT [] synonym: "decreased plasmacytoid monocytes cell number" EXACT [] synonym: "decreased plasmacytoid T cell number" EXACT [] synonym: "decreased T-associated plasma cells cell number" EXACT [] synonym: "reduced DC2 cell number" EXACT [] synonym: "reduced lymphoid dendritic cell number" EXACT [] synonym: "reduced PDC cell number" EXACT [] synonym: "reduced pDC cell number" EXACT [] synonym: "reduced plasmacytoid dendritic cell number" EXACT [] synonym: "reduced plasmacytoid monocytes cell number" EXACT [] synonym: "reduced plasmacytoid T cell number" EXACT [] synonym: "reduced T-associated plasma cells cell number" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0008123 ! abnormal plasmacytoid dendritic cell number is_a: MP:0008127 ! decreased dendritic cell number [Term] id: MP:0008125 name: abnormal dendritic cell number def: "anomaly in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation" [ISBN:0781735149, MGI:csmith] is_a: MP:0005461 ! abnormal dendritic cell morphology is_a: MP:0011180 ! abnormal hematopoietic cell number [Term] id: MP:0008126 name: increased dendritic cell number def: "greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation" [ISBN:0781735149, MGI:csmith] is_a: MP:0008125 ! abnormal dendritic cell number is_a: MP:0011181 ! increased hematopoietic cell number [Term] id: MP:0008127 name: decreased dendritic cell number def: "reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation" [ISBN:0781735149, MGI:csmith] synonym: "reduced dendritic cell number" EXACT [] is_a: MP:0008125 ! abnormal dendritic cell number is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0008128 name: abnormal brain internal capsule morphology def: "any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord" [ISBN:0-683-40008-8, MGI:csmith] comment: This structure is NOT part of the basal ganglia or striatum. is_a: MP:0008026 ! abnormal brain white matter morphology [Term] id: MP:0008129 name: absent brain internal capsule def: "absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0008128 ! abnormal brain internal capsule morphology [Term] id: MP:0008130 name: abnormal pituitary intermediate lobe morphology def: "any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults" [MGI:csmith] synonym: "intermediate part of adenohypophysis" EXACT [] synonym: "Pars intermedia" EXACT [] is_a: MP:0000633 ! abnormal pituitary gland morphology [Term] id: MP:0008131 name: abnormal Peyer's patch number def: "anomaly in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [PMID:15841100] synonym: "abnormal number of Peyer's patches" EXACT [] is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0008132 name: increased Peyer's patch number def: "greater number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [PMID:15841100] synonym: "increased number of Peyer's patches" EXACT [] is_a: MP:0008131 ! abnormal Peyer's patch number [Term] id: MP:0008133 name: decreased Peyer's patch number def: "reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [PMID:15841100] synonym: "decreased number of Peyer's patches" EXACT [] synonym: "reduced Peyer's patch number" EXACT [] is_a: MP:0008131 ! abnormal Peyer's patch number [Term] id: MP:0008134 name: abnormal Peyer's patch size def: "anomaly in the size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [PMID:15841100] is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0008135 name: small Peyer's patches def: "reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [PMID:15841100] is_a: MP:0008134 ! abnormal Peyer's patch size [Term] id: MP:0008136 name: enlarged Peyer's patches def: "increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles" [PMID:15841100] is_a: MP:0008134 ! abnormal Peyer's patch size [Term] id: MP:0008137 name: absent podocytes def: "absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane" [ISBN:0-683-40008-8] is_a: MP:0005326 ! abnormal podocyte morphology [Term] id: MP:0008138 name: absent podocyte foot process def: "absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8] is_a: MP:0008059 ! abnormal podocyte foot process morphology [Term] id: MP:0008139 name: fused podocyte foot processes def: "coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8] is_a: MP:0008059 ! abnormal podocyte foot process morphology [Term] id: MP:0008140 name: podocyte foot process effacement def: "a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane" [MGI:anna] is_a: MP:0008059 ! abnormal podocyte foot process morphology [Term] id: MP:0008141 name: decreased small intestinal microvillus size def: "reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold" [MGI:csmith, MGI:rbabiuk] synonym: "reduced small intestinal microvillus size" EXACT [] is_a: MP:0008109 ! abnormal small intestinal microvillus morphology [Term] id: MP:0008142 name: decreased small intestinal villus size def: "reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold" [MGI:csmith, MGI:rbabiuk] synonym: "reduced small intestinal villus size" EXACT [] is_a: MP:0008108 ! abnormal small intestinal villus morphology [Term] id: MP:0008143 name: abnormal dendrite morphology def: "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith, MGI:rbabiuk] synonym: "abnormal dendritic arbor" EXACT [] synonym: "abnormal dendritic tree" EXACT [] is_a: MP:0008415 ! abnormal neurite morphology [Term] id: MP:0008144 name: nyctalopia alt_id: MP:0006146 def: "decreased ability to see clearly in reduced illumination; often due to a deficiency of vitamin A or to a retinal disorder" [ISBN:0-683-40008-8, NCBI:matt] synonym: "night blindness" EXACT [] synonym: "nocturnal amblyopia" EXACT [] synonym: "nyctanopia" EXACT [] is_a: MP:0002001 ! blindness [Term] id: MP:0008145 name: hemeralopia def: "reduced ability to see clearly in bright light with night vision remaining unchanged; often due to impaired retinal cone function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "day blindness" EXACT [] synonym: "hemeranopia" EXACT [] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0008146 name: asymmetric rib-sternum attachment def: "loss of bilateral symmetry in rib attachments to the sternum" [MGI:csmith] is_a: MP:0000155 ! asymmetric rib attachment is_a: MP:0008148 ! abnormal rib-sternum attachment [Term] id: MP:0008147 name: asymmetric rib-vertebral column attachment def: "loss of bilateral symmetry in rib attachments to the vertebral column" [MGI:csmith] is_a: MP:0000155 ! asymmetric rib attachment is_a: MP:0008149 ! abnormal rib-vertebral column attachment [Term] id: MP:0008148 name: abnormal rib-sternum attachment def: "any anomaly in the in the normal joining of the ribs to the sternum" [MGI:csmith] is_a: MP:0000157 ! abnormal sternum morphology is_a: MP:0004625 ! abnormal rib attachment [Term] id: MP:0008149 name: abnormal rib-vertebral column attachment def: "any anomaly in the in the normal joining of the ribs to the vertebral column" [MGI:csmith] is_a: MP:0004625 ! abnormal rib attachment is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0008150 name: decreased diameter of long bones def: "reduced width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of long bones" EXACT [] synonym: "thin long bones" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0008151 name: increased diameter of long bones def: "increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick long bones" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0008152 name: decreased diameter of femur def: "reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of femur" EXACT [] synonym: "thin femur" EXACT [] is_a: MP:0000559 ! abnormal femur morphology is_a: MP:0008150 ! decreased diameter of long bones [Term] id: MP:0008153 name: decreased diameter of fibula def: "reduced width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of fibula" EXACT [] synonym: "thin fibula" EXACT [] is_a: MP:0002187 ! abnormal fibula morphology is_a: MP:0008150 ! decreased diameter of long bones [Term] id: MP:0008154 name: decreased diameter of humerus def: "reduced width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of humerus" EXACT [] synonym: "thin humerus" EXACT [] is_a: MP:0005296 ! abnormal humerus morphology is_a: MP:0008150 ! decreased diameter of long bones [Term] id: MP:0008155 name: decreased diameter of radius def: "reduced width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of radius" EXACT [] synonym: "thin radius" EXACT [] is_a: MP:0000552 ! abnormal radius morphology is_a: MP:0008150 ! decreased diameter of long bones [Term] id: MP:0008156 name: decreased diameter of tibia def: "reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of tibia" EXACT [] synonym: "thin tibia" EXACT [] is_a: MP:0000558 ! abnormal tibia morphology is_a: MP:0008150 ! decreased diameter of long bones [Term] id: MP:0008157 name: decreased diameter of ulna def: "reduced width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced diameter of ulna" EXACT [] synonym: "thin ulna" EXACT [] is_a: MP:0005108 ! abnormal ulna morphology is_a: MP:0008150 ! decreased diameter of long bones [Term] id: MP:0008158 name: increased diameter of femur def: "increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick femur" EXACT [] is_a: MP:0000559 ! abnormal femur morphology is_a: MP:0008151 ! increased diameter of long bones [Term] id: MP:0008159 name: increased diameter of fibula def: "increased width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick fibula" EXACT [] is_a: MP:0002187 ! abnormal fibula morphology is_a: MP:0008151 ! increased diameter of long bones [Term] id: MP:0008160 name: increased diameter of humerus def: "increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick humerus" EXACT [] is_a: MP:0005296 ! abnormal humerus morphology is_a: MP:0008151 ! increased diameter of long bones [Term] id: MP:0008161 name: increased diameter of radius def: "increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick radius" EXACT [] is_a: MP:0000552 ! abnormal radius morphology is_a: MP:0008151 ! increased diameter of long bones [Term] id: MP:0008162 name: increased diameter of tibia def: "increased width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick tibia" EXACT [] is_a: MP:0000558 ! abnormal tibia morphology is_a: MP:0008151 ! increased diameter of long bones [Term] id: MP:0008163 name: increased diameter of ulna def: "increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "thick ulna" EXACT [] is_a: MP:0005108 ! abnormal ulna morphology is_a: MP:0008151 ! increased diameter of long bones [Term] id: MP:0008164 name: abnormal B-1a B cell morphology def: "any structural anomaly of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, MGI:csmith, PMID:11861604] synonym: "abnormal B-1a B lymphocyte morphology" EXACT [] synonym: "abnormal B-1a B-cell morphology" EXACT [] synonym: "abnormal B-1a B-lymphocyte morphology" EXACT [] synonym: "abnormal B1a cell" EXACT [] is_a: MP:0004940 ! abnormal B-1 B cell morphology [Term] id: MP:0008165 name: abnormal B-1b B cell morphology def: "any structural anomaly of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell" [CL:0000821, MGI:csmith, PMID:11861604] synonym: "abnormal B-1b B lymphocyte morphology" EXACT [] synonym: "abnormal B-1b B-cell morphology" EXACT [] synonym: "abnormal B-1b B-lymphocyte morphology" EXACT [] synonym: "abnormal B1b cell" EXACT [] is_a: MP:0004940 ! abnormal B-1 B cell morphology [Term] id: MP:0008166 name: abnormal B-2 B cell morphology def: "any structural anomaly of a conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells" [CL:0000822, MGI:csmith, PMID:11861604] synonym: "abnormal B-2 B lymphocyte morphology" EXACT [] synonym: "abnormal B-2 B-cell morphology" EXACT [] synonym: "abnormal B-2 B-lymphocyte morphology" EXACT [] synonym: "abnormal B2 cell morphology" EXACT [] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008167 name: increased B-1a cell number def: "greater number of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, PMID:11861604] synonym: "increased number of B-1a cells" EXACT [] is_a: MP:0004977 ! increased B-1 B cell number is_a: MP:0008164 ! abnormal B-1a B cell morphology [Term] id: MP:0008168 name: decreased B-1a cell number def: "reduced number of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, PMID:11861604] synonym: "decreased number of B-1a cells" EXACT [] synonym: "reduced B-1a cell number" EXACT [] is_a: MP:0004978 ! decreased B-1 B cell number is_a: MP:0008164 ! abnormal B-1a B cell morphology [Term] id: MP:0008169 name: increased B-1b cell number def: "greater number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell" [CL:0000821, PMID:11861604] synonym: "increased number of B-1b cells" EXACT [] is_a: MP:0004977 ! increased B-1 B cell number is_a: MP:0008165 ! abnormal B-1b B cell morphology [Term] id: MP:0008170 name: decreased B-1b cell number def: "reduced number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell" [CL:0000821, PMID:11861604] synonym: "decreased number of B-1b cells" EXACT [] synonym: "reduced B-1b cell number" EXACT [] is_a: MP:0004978 ! decreased B-1 B cell number is_a: MP:0008165 ! abnormal B-1b B cell morphology [Term] id: MP:0008171 name: abnormal mature B cell morphology def: "any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149, MGI:csmith] synonym: "abnormal mature B lymphocyte morphology" EXACT [] synonym: "abnormal mature B-cell morphology" EXACT [] synonym: "abnormal mature B-lymphocyte morphology" EXACT [] is_a: MP:0004939 ! abnormal B cell morphology is_a: MP:0008195 ! abnormal antigen presenting cell morphology [Term] id: MP:0008172 name: abnormal follicular B cell morphology def: "any structural anomaly of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith] synonym: "abnormal FOB cell" EXACT [] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008173 name: increased follicular B cell number def: "greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith] is_a: MP:0008172 ! abnormal follicular B cell morphology is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0008174 name: decreased follicular B cell number def: "reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith] synonym: "reduced follicular B cell number" EXACT [] is_a: MP:0008172 ! abnormal follicular B cell morphology is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008175 name: absent follicular B cells def: "absence of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith] synonym: "absent FOB cell" EXACT [] is_a: MP:0008174 ! decreased follicular B cell number is_a: MP:0008212 ! absent mature B cells [Term] id: MP:0008176 name: abnormal germinal center B cell morphology def: "any structural anomaly of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen" [CL:0000844, GO:0002314, ISBN:0781735149, MGI:csmith] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008177 name: increased germinal center B cell number def: "greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen" [CL:0000844, GO:0002314, ISBN:0781735149] is_a: MP:0008176 ! abnormal germinal center B cell morphology is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0008178 name: decreased germinal center B cell number def: "reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen" [CL:0000844, GO:0002314, ISBN:0781735149] synonym: "reduced germinal center B cell number" EXACT [] is_a: MP:0008176 ! abnormal germinal center B cell morphology is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008179 name: absent germinal center B cells def: "absence of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen" [CL:0000844, GO:0002314, ISBN:0781735149] is_a: MP:0008178 ! decreased germinal center B cell number is_a: MP:0008212 ! absent mature B cells [Term] id: MP:0008180 name: abnormal marginal zone B cell morphology def: "any structural anomaly of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149, MGI:csmith] synonym: "abnormal MZB cell" EXACT [] is_a: MP:0002362 ! abnormal spleen marginal zone morphology is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008181 name: increased marginal zone B cell number def: "greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149] is_a: MP:0008180 ! abnormal marginal zone B cell morphology is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0008182 name: decreased marginal zone B cell number def: "reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149] synonym: "reduced marginal zone B cell number" EXACT [] is_a: MP:0008180 ! abnormal marginal zone B cell morphology is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008183 name: absent marginal zone B cells def: "absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149] synonym: "absent MZB cell" EXACT [] is_a: MP:0008182 ! decreased marginal zone B cell number is_a: MP:0008212 ! absent mature B cells [Term] id: MP:0008184 name: abnormal naive B cell morphology def: "any structural anomaly of a mature B cell which has not yet been activated by antigen" [CL:0000788, MGI:csmith] synonym: "abnormal naive B lymphocyte morphology" EXACT [] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008185 name: decreased naive B cell number def: "reduced number of mature B cells which have not yet been activated by antigen" [CL:0000788, MGI:csmith] synonym: "decreased number of naive B cells" EXACT [] synonym: "reduced naive B cell number" EXACT [] is_a: MP:0008184 ! abnormal naive B cell morphology [Term] id: MP:0008186 name: increased pro-B cell number def: "greater number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith] synonym: "increased number of pro-B cells" EXACT [] is_a: MP:0005432 ! abnormal pro-B cell morphology [Term] id: MP:0008187 name: absent pro-B cells def: "absence of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith] is_a: MP:0008208 ! decreased pro-B cell number [Term] id: MP:0008188 name: abnormal transitional stage B cell morphology def: "any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection" [CL:0000818, ISBN:0781735149, MGI:csmith] synonym: "abnormal transitional B cell" EXACT [] synonym: "abnormal transitional stage B lymphocyte" EXACT [] synonym: "abnormal transitional stage B-cell" EXACT [] is_a: MP:0005022 ! abnormal immature B cell morphology [Term] id: MP:0008189 name: increased transitional stage B cell number def: "greater number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection" [CL:0000818, ISBN:0781735149, MGI:csmith] synonym: "increased transitional B cell number" EXACT [] synonym: "increased transitional stage B lymphocyte number" EXACT [] synonym: "increased transitional stage B-cell number" EXACT [] is_a: MP:0008188 ! abnormal transitional stage B cell morphology is_a: MP:0008214 ! increased immature B cell number [Term] id: MP:0008190 name: decreased transitional stage B cell number def: "reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection" [CL:0000818, ISBN:0781735149, MGI:csmith] synonym: "decreased transitional B cell number" EXACT [] synonym: "decreased transitional stage B lymphocyte number" EXACT [] synonym: "decreased transitional stage B-cell number" EXACT [] is_a: MP:0008188 ! abnormal transitional stage B cell morphology is_a: MP:0008215 ! decreased immature B cell number [Term] id: MP:0008191 name: abnormal follicular B cell physiology def: "abnormal function of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen" [CL:0000843, ISBN:0781735149, MGI:csmith] is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0008192 name: abnormal germinal center B cell physiology def: "abnormal function of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes" [CL:0000844, GO:0002314, ISBN:0781735149] is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0008193 name: abnormal marginal zone B cell physiology def: "abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149, MGI:csmith] is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0008194 name: abnormal memory B cell physiology def: "abnormal function of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149, MGI:csmith] is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0008195 name: abnormal antigen presenting cell morphology def: "any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response" [CL:0000145, ISBN:0781735149, MGI:csmith] is_a: MP:0000716 ! abnormal immune system cell morphology [Term] id: MP:0008196 name: abnormal follicular dendritic cell morphology def: "any structural anomaly of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response" [CL:0000442, MESH:A10.549.250.200, MGI:csmith] comment: Follicular dendritic cells are a distinct population from other dendritic cells associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. They are not derived from the hematopoietic lineage. Due to its unique lineage and distinct function (B cell vs. T cell presentation), this is NOT a type of dendritic cell. is_a: MP:0008195 ! abnormal antigen presenting cell morphology [Term] id: MP:0008197 name: abnormal follicular dendritic cell physiology def: "abnormal function of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response" [CL:0000442, MESH:A10.549.250.200, MGI:csmith] comment: Annotations to this cell type have been erroneously made to dendritic cell morphology. These are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. They are not derived from the hematopoietic lineage. Due to its unique lineage and distinct function (B cell vs. T cell presentation), this is NOT a type of dendritic cell. is_a: MP:0002452 ! abnormal antigen presenting cell physiology [Term] id: MP:0008198 name: abnormal follicular dendritic cell antigen presentation def: "anomaly in the ability of follicular dendritic cells to process and present antigen to B lymphocytes" [MGI:csmith] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0008197 ! abnormal follicular dendritic cell physiology [Term] id: MP:0008199 name: increased follicular dendritic cell number def: "greater number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response" [CL:0000442, MESH:A10.549.250.200] synonym: "increased number of follicular dendritic cells" EXACT [] is_a: MP:0008196 ! abnormal follicular dendritic cell morphology [Term] id: MP:0008200 name: decreased follicular dendritic cell number def: "reduced number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response" [CL:0000442, MESH:A10.549.250.200] synonym: "decreased number of follicular dendritic cells" EXACT [] synonym: "reduced follicular dendritic cell number" EXACT [] is_a: MP:0008196 ! abnormal follicular dendritic cell morphology [Term] id: MP:0008201 name: absent follicular dendritic cells def: "absence of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response" [CL:0000442, MESH:A10.549.250.200, MGI:csmith] is_a: MP:0008200 ! decreased follicular dendritic cell number [Term] id: MP:0008202 name: absent B-1 B cells def: "absence of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas" [CL:0000819, MGI:csmith, PMID:11861604] is_a: MP:0004978 ! decreased B-1 B cell number is_a: MP:0008212 ! absent mature B cells [Term] id: MP:0008203 name: absent B-1a cells def: "absence of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, PMID:11861604] is_a: MP:0008164 ! abnormal B-1a B cell morphology is_a: MP:0008168 ! decreased B-1a cell number is_a: MP:0008202 ! absent B-1 B cells [Term] id: MP:0008204 name: absent B-1b cells def: "absence of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell" [CL:0000821, MGI:csmith, PMID:11861604] is_a: MP:0008165 ! abnormal B-1b B cell morphology is_a: MP:0008170 ! decreased B-1b cell number is_a: MP:0008202 ! absent B-1 B cells [Term] id: MP:0008205 name: absent B-2 B cells def: "absence of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells" [CL:0000822, MGI:csmith, PMID:11861604] synonym: "absent B-2 B lymphocytes" EXACT [] synonym: "absent B-2 B-cells" EXACT [] synonym: "absent B-2 B-lymphocytes" EXACT [] synonym: "absent B2 cells" EXACT [] is_a: MP:0008207 ! decreased B-2 B cell number is_a: MP:0008212 ! absent mature B cells [Term] id: MP:0008206 name: increased B-2 B cell number def: "greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells" [CL:0000822, MGI:csmith, PMID:11861604] synonym: "increased number of B-2 cells" EXACT [] is_a: MP:0008166 ! abnormal B-2 B cell morphology is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0008207 name: decreased B-2 B cell number def: "reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells" [CL:0000822, MGI:csmith, PMID:11861604] synonym: "decreased number of B-2 cells" EXACT [] synonym: "reduced B-2 cell number" EXACT [] is_a: MP:0008166 ! abnormal B-2 B cell morphology is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008208 name: decreased pro-B cell number def: "reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith] synonym: "decreased number of pro-B cells" EXACT [] synonym: "decreased pro-B lymphocyte cell number" EXACT [] synonym: "reduced pro-B cell number" EXACT [] is_a: MP:0005432 ! abnormal pro-B cell morphology [Term] id: MP:0008209 name: decreased pre-B cell number def: "reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "decreased number of pre-B cells" EXACT [] synonym: "decreased pre-B lymphocyte cell number" EXACT [] synonym: "reduced pre-B cell number" EXACT [] is_a: MP:0002403 ! abnormal pre-B cell morphology is_a: MP:0008215 ! decreased immature B cell number [Term] id: MP:0008210 name: increased mature B cell number def: "greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased number of mature B cells" EXACT [] synonym: "increased number of mature B lymphocytes" EXACT [] synonym: "increased number of mature B-cells" EXACT [] synonym: "increased number of mature B-lymphocytes" EXACT [] is_a: MP:0005014 ! increased B cell number is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008211 name: decreased mature B cell number def: "reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased number of mature B cells" EXACT [] synonym: "decreased number of mature B lymphocytes" EXACT [] synonym: "decreased number of mature B-cells" EXACT [] synonym: "decreased number of mature B-lymphocytes" EXACT [] synonym: "reduced mature B cell number" EXACT [] is_a: MP:0005017 ! decreased B cell number is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0008212 name: absent mature B cells def: "absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149, MGI:csmith] synonym: "absent mature B lymphocyte" EXACT [] synonym: "absent mature B-cell" EXACT [] synonym: "absent mature B-lymphocyte" EXACT [] is_a: MP:0008071 ! absent B cells is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008213 name: absent immature B cells def: "absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "absent immature B lymphocyte" EXACT [] synonym: "absent immature B-cell" EXACT [] synonym: "absent immature B-lymphocyte" EXACT [] is_a: MP:0005022 ! abnormal immature B cell morphology is_a: MP:0008071 ! absent B cells is_a: MP:0008215 ! decreased immature B cell number [Term] id: MP:0008214 name: increased immature B cell number def: "greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "increased number of immature B cells" EXACT [] synonym: "increased number of immature B lymphocytes" EXACT [] synonym: "increased number of immature B-cells" EXACT [] synonym: "increased number of immature B-lymphocytes" EXACT [] is_a: MP:0005014 ! increased B cell number is_a: MP:0005022 ! abnormal immature B cell morphology [Term] id: MP:0008215 name: decreased immature B cell number def: "reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "decreased number of immature B cells" EXACT [] synonym: "decreased number of immature B lymphocytes" EXACT [] synonym: "decreased number of immature B-cells" EXACT [] synonym: "decreased number of immature B-lymphocytes" EXACT [] synonym: "reduced immature B cell number" EXACT [] is_a: MP:0005017 ! decreased B cell number is_a: MP:0005022 ! abnormal immature B cell morphology [Term] id: MP:0008216 name: absent transitional stage B cells def: "absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection" [CL:0000818, ISBN:0781735149] synonym: "absent T1 B cell" NARROW [] synonym: "absent T2 B cell" NARROW [] synonym: "absent T3 B cell" NARROW [] synonym: "absent transitional stage B lymphocyte" EXACT [] synonym: "absent transitional stage B-cell" EXACT [] synonym: "absent transitional stage B-lymphocyte" EXACT [] is_a: MP:0008190 ! decreased transitional stage B cell number is_a: MP:0008213 ! absent immature B cells [Term] id: MP:0008217 name: abnormal B cell activation def: "any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific" [GO:0002312, MGI:csmith] is_a: MP:0002144 ! abnormal B cell differentiation is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0008218 name: delayed emergence of vibrissae def: "eruption of the vibrissae from the skin later than expected" [MGI:brs] comment: In mouse, the vibrissae emerge at approximately embryonic day E17-18. synonym: "delayed emergence of sinus hairs" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0008219 name: abnormal dorsal telencephalic commissure morphology def: "any structural anomaly of the fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure" [PMID:16715082] synonym: "abnormal dorsal commissure" EXACT [] is_a: MP:0002199 ! abnormal brain commissure morphology [Term] id: MP:0008220 name: abnormal ventral commissure morphology def: "any structural anomaly of the fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures" [PMID:16715082] is_a: MP:0002199 ! abnormal brain commissure morphology [Term] id: MP:0008221 name: abnormal hippocampal commissure morphology def: "any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8] synonym: "abnormal commissure fornicis" EXACT [] synonym: "abnormal commissure hippocampi" EXACT [] synonym: "abnormal commissure of fornix" EXACT [] synonym: "abnormal delta fornicis" EXACT [] synonym: "abnormal hippocampus commissure" EXACT [] synonym: "abnormal ventral hippocampal commissure" NARROW [] synonym: "abnormal vhc" NARROW [] is_a: MP:0008219 ! abnormal dorsal telencephalic commissure morphology [Term] id: MP:0008222 name: decreased hippocampal commissure size def: "reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8] synonym: "decreased size of hippocampal commissure" EXACT [] synonym: "reduced size of commissure fornicis" EXACT [] synonym: "reduced size of commissure hippocampi" EXACT [] synonym: "reduced size of commissure of fornix" EXACT [] synonym: "reduced size of delta fornicis" EXACT [] synonym: "reduced size of hippocampus commissure" EXACT [] synonym: "reduced size of ventral hippocampal commissure" NARROW [] synonym: "reduced size of vhc" NARROW [] is_a: MP:0008221 ! abnormal hippocampal commissure morphology [Term] id: MP:0008223 name: absent hippocampal commissure def: "absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8] synonym: "absent commissure fornicis" EXACT [] synonym: "absent commissure hippocampi" EXACT [] synonym: "absent commissure of fornix" EXACT [] synonym: "absent delta fornicis" EXACT [] synonym: "absent hippocampus commissure" EXACT [] synonym: "absent ventral hippocampal commissure" NARROW [] synonym: "absent vhc" NARROW [] is_a: MP:0008221 ! abnormal hippocampal commissure morphology [Term] id: MP:0008224 name: increased hippocampal commissure size def: "enlarged triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8] synonym: "enlarged hippocampal commissure" EXACT [] synonym: "increased size of commissure fornicis" EXACT [] synonym: "increased size of commissure hippocampi" EXACT [] synonym: "increased size of commissure of fornix" EXACT [] synonym: "increased size of delta fornicis" EXACT [] synonym: "increased size of hippocampal commissure" EXACT [] synonym: "increased size of hippocampus commissure" EXACT [] synonym: "increased size of ventral hippocampal commissure" NARROW [] synonym: "increased size of vhc" NARROW [] is_a: MP:0008221 ! abnormal hippocampal commissure morphology [Term] id: MP:0008225 name: abnormal anterior commissure morphology def: "any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8] synonym: "abnormal Ac" EXACT [] synonym: "abnormal commissura anterior" EXACT [] synonym: "abnormal commissure anterior" EXACT [] is_a: MP:0008220 ! abnormal ventral commissure morphology [Term] id: MP:0008226 name: decreased anterior commissure size def: "reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8] synonym: "decreased size of anterior commissure" EXACT [] synonym: "reduced size of Ac" EXACT [] synonym: "reduced size of anterior commissure" EXACT [] synonym: "reduced size of commissura anterior" EXACT [] synonym: "reduced size of commissure anterior" EXACT [] is_a: MP:0008225 ! abnormal anterior commissure morphology [Term] id: MP:0008227 name: absent anterior commissure def: "absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8] synonym: "absent Ac" EXACT [] synonym: "absent commissura anterior" EXACT [] synonym: "absent commissure anterior" EXACT [] is_a: MP:0008225 ! abnormal anterior commissure morphology [Term] id: MP:0008228 name: increased anterior commissure size def: "enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8] synonym: "enlarged anterior commissure" EXACT [] synonym: "increased size of Ac" EXACT [] synonym: "increased size of anterior commissure" EXACT [] synonym: "increased size of commissura anterior" EXACT [] synonym: "increased size of commissure anterior" EXACT [] is_a: MP:0008225 ! abnormal anterior commissure morphology [Term] id: MP:0008229 name: abnormal pars posterior morphology def: "OBSOLETE. any structural anomaly of the horseshoe-shaped tract that connects the two olfactory bulbs" [PMID:8689685] is_obsolete: true consider: MP:0010860 [Term] id: MP:0008230 name: abnormal pars anterior morphology def: "OBSOLETE. any structural anomaly of the major forebrain commissure that connects the two temporal lobes of the cortex" [MGI:csmith, PMID:8689685] is_obsolete: true consider: MP:0010859 [Term] id: MP:0008231 name: abnormal habenular commissure morphology def: "any structural anomaly of the connection between the right and left habenular nuclei; the decussation of fibers of the two striae medullares, forming the dorsal portion of the peduncle of the pineal body" [ISBN:0-683-40008-8] synonym: "abnormal commissure habenularum" EXACT [] is_a: MP:0008220 ! abnormal ventral commissure morphology [Term] id: MP:0008232 name: abnormal cingulum morphology def: "any structural anomaly of the white matter fiber bundle that projects from the cingulate gyrus to the entorhinal cortex in the brain" [MGI:csmith] is_a: MP:0000778 ! abnormal nervous system tract morphology is_a: MP:0008026 ! abnormal brain white matter morphology [Term] id: MP:0008233 name: abnormal pro-B cell differentiation def: "atypical production of or inability to produce the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith] is_a: MP:0005432 ! abnormal pro-B cell morphology [Term] id: MP:0008234 name: absent spleen marginal zone def: "absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens" [ISBN:0-683-40008-8] synonym: "absent splenic marginal zone" EXACT [] is_a: MP:0002362 ! abnormal spleen marginal zone morphology [Term] id: MP:0008235 name: increased susceptibility to neuronal excitotoxicity def: "greater than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process" [MGI:csmith] synonym: "decreased resistance to neuronal excitotoxicity" EXACT [] synonym: "increased susceptibility to neurotoxicity-induced cell death" EXACT [] is_a: MP:0003203 ! increased neuron apoptosis is_a: MP:0008873 ! increased physiological sensitivity to xenobiotic [Term] id: MP:0008236 name: decreased susceptibility to neuronal excitotoxicity def: "less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process" [MGI:csmith] synonym: "decreased susceptibility to neurotoxicity-induced cell death" EXACT [] synonym: "increased resistance to neuronal excitotoxicity" EXACT [] synonym: "reduced susceptibility to neuronal excitotoxicity" EXACT [] is_a: MP:0003204 ! decreased neuron apoptosis is_a: MP:0008874 ! decreased physiological sensitivity to xenobiotic [Term] id: MP:0008237 name: abnormal ventral coat pigmentation def: "irregular or unusual pigmentation of ventrum hair in relation to control animals" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0008238 name: abnormal dorsoventral coat patterning def: "irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals" [MGI:llw2] subset: Sanger_Terms is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0008239 name: epigenetic coat coloration def: "a range of wild-type and mutant allele coat coloration, from mouse to mouse or coat color mosaicism of an individual mouse, due to differential methylation of the mutation causing element" [MGI:llw2] is_a: MP:0005366 ! variegated coat color [Term] id: MP:0008240 name: abnormal spleen marginal zone macrophage morphology def: "any structural anomaly of the cells present in the splenic marginal zone and are involved in the recognition and clearance of material, such as pathogen-derived material, from the splenic circulation" [PMID:16322748] comment: Spleen marginal zone macrophage cells express the cell surface protein CD209b (also called Signr1), which is often detected with the ER-TR9 antibody. synonym: "abnormal ER-TR9 positive cells" EXACT [] synonym: "abnormal splenic marginal zone macrophage morphology" EXACT [] is_a: MP:0002362 ! abnormal spleen marginal zone morphology is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0008241 name: abnormal metallophilic macrophage morphology def: "any structural anomaly of the macrophage cells that surround the white pulp of the spleen, adjacent to the marginal sinus" [PMID:16322748] comment: Metallophilic macrophage cells express the cell surface protein Siglec1 (also called CD169 or sialoadhesin), which is often detected with the MOMA-1 antibody. synonym: "abnormal marginal metallophilic macrophage" EXACT [] synonym: "abnormal MOMA-1 positive cells" EXACT [] synonym: "abnormal splenic marginal metallophilic macrophages" EXACT [] synonym: "abnormal splenic metallophilic macrophage morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0008242 name: abnormal perivascular macrophage morphology def: "any structural anomaly of macrophages that line the small blood vessels" [PMID:16322748] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0008243 name: abnormal macrophage derived foam cell morphology def: "any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions" [CL:0000517] xref: CL:0000517 is_a: MP:0002446 ! abnormal macrophage morphology is_a: MP:0009840 ! abnormal foam cell morphology [Term] id: MP:0008244 name: abnormal peritoneal macrophage morphology def: "any structural anomaly of a mononuclear phagocyte that develops from bone marrow precursors but is resident in the peritoneum" [CL:0000581, MESH:A.11.329.372.630] is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0008245 name: abnormal alveolar macrophage morphology def: "any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells" [CL:0000583, MESH:A.11.329.372.600] is_a: MP:0002446 ! abnormal macrophage morphology is_a: MP:0010901 ! abnormal pulmonary alveolar parenchyma morphology [Term] id: MP:0008246 name: abnormal leukocyte morphology def: "any structural anomaly of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] synonym: "abnormal WBC morphology" EXACT [] synonym: "leukocyte abnormalities" BROAD [] synonym: "white blood cell abnormalities" BROAD [] is_a: MP:0000716 ! abnormal immune system cell morphology is_a: MP:0002123 ! abnormal hematopoiesis is_a: MP:0002429 ! abnormal blood cell morphology/development [Term] id: MP:0008247 name: abnormal mononuclear cell morphology def: "any structural anomaly of a leukocyte with a single non-segmented nucleus in the mature form" [CL:0000842] synonym: "abnormal mononuclear leukocyte morphology" EXACT [] is_a: MP:0008246 ! abnormal leukocyte morphology [Term] id: MP:0008248 name: abnormal mononuclear phagocyte morphology def: "any structural anomaly of a vertebrate phagocyte with a single nucleus" [CL:0000113] is_a: MP:0008247 ! abnormal mononuclear cell morphology is_a: MP:0008251 ! abnormal phagocyte morphology [Term] id: MP:0008249 name: abnormal common lymphocyte progenitor cell morphology def: "any structural anomaly of a progenitor cell committed to the lymphoid lineage" [CL:0000051, PMID:10407577] synonym: "abnormal CLP" EXACT [] synonym: "abnormal common lymphoid progenitor cell" EXACT [] synonym: "lymphoid stem cell abnormalities" EXACT [] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0008250 name: abnormal myeloid leukocyte morphology def: "any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage" [CL:0000766] is_a: MP:0008246 ! abnormal leukocyte morphology [Term] id: MP:0008251 name: abnormal phagocyte morphology def: "any structural anomaly of cells capable of ingesting particulate matter via phagocytosis" [CL:0000234, ISBN:0721601464] synonym: "abnormal phagocytic cell morphology" EXACT [] is_a: MP:0008250 ! abnormal myeloid leukocyte morphology [Term] id: MP:0008252 name: abnormal multinucleated phagocyte morphology def: "any structural anomaly of a phagocyte formed by the fusion of mononuclear phagocytes" [CL:0000783] is_a: MP:0008251 ! abnormal phagocyte morphology [Term] id: MP:0008253 name: absent megakaryocytes def: "absence of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm" [CL:0000556, ISBN:0721601464] synonym: "absent megacaryocytes" EXACT [] synonym: "absent megalocaryocytes" EXACT [] synonym: "absent megalokaryocytes" EXACT [] is_a: MP:0008255 ! decreased megakaryocyte cell number [Term] id: MP:0008254 name: increased megakaryocyte cell number def: "greater number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm" [CL:0000556, ISBN:0721601464] synonym: "increased megacaryocyte cell number" EXACT [] synonym: "increased megalocaryocyte cell number" EXACT [] synonym: "increased megalokaryocyte cell number" EXACT [] synonym: "increased number of megakaryocytes" EXACT [] is_a: MP:0002417 ! abnormal megakaryocyte morphology [Term] id: MP:0008255 name: decreased megakaryocyte cell number def: "reduced number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm" [CL:0000556, ISBN:0721601464] synonym: "decreased megacaryocyte cell number" EXACT [] synonym: "decreased megalocaryocyte cell number" EXACT [] synonym: "decreased megalokaryocyte cell number" EXACT [] synonym: "decreased number of megakaryocytes" EXACT [] synonym: "reduced megakaryocyte cell number" EXACT [] synonym: "reduced number of megakaryocytes" EXACT [] is_a: MP:0002417 ! abnormal megakaryocyte morphology [Term] id: MP:0008256 name: abnormal myometrium morphology def: "any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MESH:A02.633.570.500, MGI:brs] synonym: "abnormal uterine smooth muscle morphology" EXACT [] synonym: "abnormal uterus smooth muscle morphology" RELATED [] synonym: "myometrium dysplasia" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0008257 name: thin myometrium def: "reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MESH:A02.633.570.500, MGI:brs] synonym: "thin uterine smooth muscle" EXACT [] synonym: "thin uterus smooth muscle" EXACT [] is_a: MP:0008256 ! abnormal myometrium morphology [Term] id: MP:0008258 name: thin endometrium def: "reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MESH:A05.360.319.679.490, MGI:smb] is_a: MP:0004896 ! abnormal endometrium morphology [Term] id: MP:0008259 name: abnormal optic disc morphology alt_id: MP:0002793 alt_id: MP:0006215 def: "any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve" [MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "abnormal optic disc" BROAD [] synonym: "optic disc abnormalities" BROAD [] synonym: "optic disc dysplasia" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology is_a: MP:0002864 ! abnormal ocular fundus morphology is_a: MP:0009772 ! abnormal retinal development [Term] id: MP:0008260 name: abnormal autophagy def: "abnormal catabolic process involving the degradation of a cell's own components through the lysosomal machinery" [MGI:honda] synonym: "abnormal autophagocytosis" EXACT [] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0008261 name: arrest of male meiosis def: "cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [ISBN:0-683-40008-8] is_a: MP:0001155 ! arrest of spermatogenesis is_a: MP:0005169 ! abnormal male meiosis [Term] id: MP:0008262 name: abnormal hippocampus region morphology def: "any structural anomaly of a part or parts of the hippocampus that have a particular function" [MGI:csmith] synonym: "abnormal hippocampal area" BROAD [] synonym: "abnormal hippocampal region morphology" EXACT [] synonym: "abnormal hippocampal subfield morphology" BROAD [] synonym: "abnormal hippocampus area" BROAD [] synonym: "abnormal hippocampus subfield morphology" RELATED [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0008263 name: abnormal hippocampus CA1 region morphology def: "any structural anomaly of a cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation consisting primarily of pyramidal neurons; the pyramidal neurons of CA1 receive projections from pyramidal neurons of CA3 via the Schaffer collaterals and send outputs to the entorhinal cortex and to the subiculum" [NLX:birnlex_1197] synonym: "abnormal CA1 field morphology" EXACT [] synonym: "abnormal CA1 field of Ammon's horn" EXACT [] synonym: "abnormal Cornu Ammonis 1" EXACT [] synonym: "abnormal field CA1 of hippocampus" EXACT [] synonym: "abnormal regio superior of the hippocampus" EXACT [] synonym: "abnormal region I of hippocampus proper" EXACT [] is_a: MP:0000815 ! abnormal Ammon gyrus morphology is_a: MP:0008262 ! abnormal hippocampus region morphology [Term] id: MP:0008264 name: absent hippocampus CA1 region synonym: "absent CA1 field morphology" EXACT [] synonym: "absent CA1 field of Ammon's horn" EXACT [] synonym: "absent Cornu Ammonis 1" EXACT [] synonym: "absent field CA1 of hippocampus" EXACT [] synonym: "absent regio superior of the hippocampus" EXACT [] is_a: MP:0008263 ! abnormal hippocampus CA1 region morphology [Term] id: MP:0008265 name: abnormal hippocampus CA2 region morphology def: "any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input" [NLX:birnlex_1362] synonym: "abnormal CA2 field morphology" EXACT [] synonym: "abnormal CA2 field of Ammon's horn" EXACT [] synonym: "abnormal Cornu Ammonis 2" EXACT [] synonym: "abnormal field CA2 of hippocampus" EXACT [] synonym: "abnormal region II of hippocampus proper" EXACT [] is_a: MP:0000815 ! abnormal Ammon gyrus morphology is_a: MP:0008262 ! abnormal hippocampus region morphology [Term] id: MP:0008266 name: absent hippocampus CA2 region synonym: "absent CA2 field morphology" EXACT [] synonym: "absent CA2 field of Ammon's horn" EXACT [] synonym: "absent Cornu Ammonis 2" EXACT [] synonym: "absent field CA2 of hippocampus" EXACT [] is_a: MP:0008265 ! abnormal hippocampus CA2 region morphology [Term] id: MP:0008267 name: abnormal hippocampus CA3 region morphology synonym: "abnormal CA3 field morphology" EXACT [] synonym: "abnormal CA3 field of Ammon's horn" EXACT [] synonym: "abnormal Cornu Ammonis 3" EXACT [] synonym: "abnormal field CA3 of hippocampus" EXACT [] is_a: MP:0000815 ! abnormal Ammon gyrus morphology is_a: MP:0008262 ! abnormal hippocampus region morphology [Term] id: MP:0008268 name: absent hippocampus CA3 region synonym: "absent CA3 field morphology" EXACT [] synonym: "absent CA3 field of Ammon's horn" EXACT [] synonym: "absent Cornu Ammonis 3" EXACT [] synonym: "absent field CA3 of hippocampus" EXACT [] is_a: MP:0008267 ! abnormal hippocampus CA3 region morphology [Term] id: MP:0008269 name: abnormal hippocampus CA4 region morphology def: "any structural anomaly of the region of the hippocampal formation that is comprised of mossy cells that primarily receive inputs from granule cells in the dentate gyrus in the form of mossy fibers and from pyramidal cells in CA3, and send outputs into the dentate gyrus" [MGI:csmith] synonym: "abnormal dentate gyrus hilus morphology" EXACT [] synonym: "abnormal field CA4 of hippocampal formation" EXACT [] synonym: "abnormal hilus of dentate gyrus morphology" EXACT [] is_a: MP:0000812 ! abnormal dentate gyrus morphology is_a: MP:0008262 ! abnormal hippocampus region morphology [Term] id: MP:0008270 name: absent hippocampus CA4 region synonym: "absent dentate gyrus hilus" EXACT [] synonym: "absent field CA4 of hippocampal formation" EXACT [] synonym: "absent hilus of dentate gyrus" EXACT [] is_a: MP:0008269 ! abnormal hippocampus CA4 region morphology [Term] id: MP:0008271 name: abnormal bone ossification alt_id: MP:0000057 alt_id: MP:0001535 alt_id: MP:0001536 def: "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503] synonym: "abnormal bone biosynthesis" EXACT [] synonym: "abnormal bone formation" EXACT [] synonym: "abnormal osteogenesis" EXACT [] synonym: "osteogenesis abnormalities" EXACT [] is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0008272 name: abnormal endochondral bone ossification def: "anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0008273 name: abnormal intramembranous bone ossification def: "anomaly in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed" [GO:0001957] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0008274 name: failure of bone ossification def: "failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503] synonym: "failure of bone biosynthesis" EXACT [] synonym: "failure of bone formation" EXACT [] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0008275 name: failure of endochondral bone ossification def: "failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958] is_a: MP:0008272 ! abnormal endochondral bone ossification is_a: MP:0008274 ! failure of bone ossification [Term] id: MP:0008276 name: failure of intramembranous bone ossification def: "failure to initiate or a block in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed" [GO:0001957] is_a: MP:0008273 ! abnormal intramembranous bone ossification is_a: MP:0008274 ! failure of bone ossification [Term] id: MP:0008277 name: abnormal sternum ossification def: "anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat] is_a: MP:0000157 ! abnormal sternum morphology is_a: MP:0008272 ! abnormal endochondral bone ossification [Term] id: MP:0008278 name: failure of sternum ossification def: "failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat] is_a: MP:0008277 ! abnormal sternum ossification [Term] id: MP:0008279 name: arrest of spermiogenesis def: "block in the process by which a spermatid transforms into a functional spermatozoon" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001932 ! abnormal spermiogenesis [Term] id: MP:0008280 name: male germ cell apoptosis def: "presence of male germs cells that undergo programmed cell death" [MGI:csmith] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0008281 name: abnormal hippocampus size def: "anomaly in the size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6, MGI:csmith] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0008282 name: enlarged hippocampus def: "increased size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6, MGI:csmith] subset: Sanger_Terms synonym: "increased hippocampus size" EXACT [] is_a: MP:0008281 ! abnormal hippocampus size [Term] id: MP:0008283 name: small hippocampus def: "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6, MGI:csmith] subset: Sanger_Terms synonym: "decreased hippocampus size" EXACT [] is_a: MP:0008281 ! abnormal hippocampus size [Term] id: MP:0008284 name: abnormal hippocampus pyramidal cell layer subset: Sanger_Terms synonym: "abnormal stratum pyramidale morphology" EXACT [] is_a: MP:0000813 ! abnormal hippocampus layer morphology [Term] id: MP:0008285 name: abnormal hippocampus granule cell layer synonym: "abnormal stratum granulare morphology" EXACT [] is_a: MP:0000813 ! abnormal hippocampus layer morphology [Term] id: MP:0008286 name: abnormal hippocampus molecular cell layer synonym: "abnormal stratum moleculare morphology" EXACT [] is_a: MP:0000813 ! abnormal hippocampus layer morphology [Term] id: MP:0008287 name: abnormal subiculum morphology def: "any structural anomaly of the transitional zone between the parahippocampal gyrus and the Ammon gyrus" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0008288 name: abnormal adrenal cortex morphology def: "any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone" [ISBN:0-683-40008-8, MGI:llw2] synonym: "abnormal adrenal capsule cortex" EXACT [] synonym: "abnormal adrenal gland cortex morphology" EXACT [] synonym: "abnormal adrenocortex morphology" EXACT [] synonym: "abnormal suprarenal gland cortex morphology" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0008289 name: abnormal adrenal medulla morphology def: "any structural anomaly of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine" [MESH:A06.407.071.265, MGI:llw2] synonym: "abnormal adrenal gland medulla morphology" EXACT [] synonym: "abnormal suprarenal gland medulla morphology" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0008290 name: absent adrenal cortex def: "absence of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone" [ISBN:0-683-40008-8, MGI:llw2] synonym: "absent adrenal capsule cortex" EXACT [] synonym: "absent adrenal gland cortex" EXACT [] synonym: "absent suprarenal gland cortex" EXACT [] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008291 name: abnormal adrenocortical cell morphology def: "any structural anomaly of the steroid hormone-producing cells of the cortex of the adrenal gland" [MGI:llw2] synonym: "abnormal cortical cell morphology" BROAD [] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008292 name: enlarged adrenocortical cell nuclei def: "nuclei of the cells of the cortex of the adrenal gland are larger than normal" [MGI:llw2] synonym: "adrenocortical cell nuclei hypertrophy" EXACT [] is_a: MP:0000646 ! enlarged adrenocortical cells [Term] id: MP:0008293 name: abnormal zona glomerulosa morphology def: "any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced" [MESH:A06.407.071.140.960, MGI:llw2] synonym: "abnormal adrenal glomerulosa morphology" EXACT [] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008294 name: abnormal zona fasciculata morphology def: "any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone)" [MESH:A06.407.071.140.950] synonym: "abnormal adrenal fasciculata morphology" EXACT [] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008295 name: abnormal zona reticularis morphology def: "any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids" [MESH:A06.407.071.140.970] synonym: "abnormal adrenal reticularis morphology" EXACT [] synonym: "abnormal zona reticulata morphology" EXACT [] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008296 name: abnormal x-zone morphology def: "any structural anomaly of the transient cortical layer juxtaposed to the medulla and the zona reticularis; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females" [MGI:llw2, PMID:3582592] synonym: "abnormal juxtamedullary x-zone morphology" EXACT [] synonym: "abnormal transient zone morphology" EXACT [] synonym: "abnormal x zone morphology" EXACT [] xref: MA:0001887 is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008297 name: retention of the x-zone def: "failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females" [MGI:llw2, PMID:3582592] is_a: MP:0008296 ! abnormal x-zone morphology [Term] id: MP:0008298 name: adrenergic chromaffin cell hyperplasia def: "an increase in the number of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion" [MGI:csmith] is_a: MP:0003834 ! abnormal adrenergic chromaffin cell morphology [Term] id: MP:0008299 name: adrenal cortical hyperplasia def: "overdevelopment of the thick outer layer of the adrenal gland that produces and secretes steroid hormones, usually due to an increase in the number of cells" [MGI:csmith] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008300 name: enlarged adrenal medulla def: "increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells" [MGI:csmith] is_a: MP:0008289 ! abnormal adrenal medulla morphology [Term] id: MP:0008301 name: adrenal medulla hyperplasia def: "overdevelopment or increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells, usually due to an increase in the number of cells" [MGI:csmith] is_a: MP:0008300 ! enlarged adrenal medulla [Term] id: MP:0008302 name: thin adrenal cortex def: "reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone" [MGI:csmith] is_a: MP:0008288 ! abnormal adrenal cortex morphology [Term] id: MP:0008303 name: early degeneration of the x-zone def: "degeneration of the transient cortical layer juxtaposed to the medulla and the zona reticularis prior to the expected time; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females" [PMID:3582592] is_a: MP:0008296 ! abnormal x-zone morphology [Term] id: MP:0008304 name: abnormal organ of Corti supporting cell differentiation def: "atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti" [MGI:anna] is_a: MP:0004300 ! abnormal organ of Corti supporting cell morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0008305 name: abnormal organ of Corti supporting cell physiology def: "any functional anomaly in processes pertinent to the integrated function of the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti" [MGI:anna] is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0008306 name: abnormal organ of Corti supporting cell proliferation def: "aberrant timing or any anomaly in the ability of supporting cells in the organ of Corti to undergo expansion by cell division" [MGI:anna] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0008305 ! abnormal organ of Corti supporting cell physiology [Term] id: MP:0008307 name: short scala media def: "reduced length of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani" [MGI:anna] synonym: "short cochlear duct" EXACT [] is_a: MP:0008308 ! small scala media [Term] id: MP:0008308 name: small scala media def: "reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani" [MGI:anna] synonym: "small cochlear duct" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0008309 name: dilated scala media def: "stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani" [MGI:anna] synonym: "cochlear duct dilation" EXACT [] synonym: "dilated cochlear duct" EXACT [] synonym: "scala media dilation" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0008310 name: abnormal sympathetic preganglionic fiber morphology def: "any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a sympathetic ganglion" [MGI:csmith] is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0008311 name: abnormal parasympathetic preganglionic fiber morphology def: "any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion" [MGI:csmith] is_a: MP:0001033 ! abnormal parasympathetic system morphology [Term] id: MP:0008312 name: abnormal sympathetic postganglionic fiber morphology def: "any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ" [MESH:A08.663.542.075.800, MGI:csmith] is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0008313 name: abnormal parasympathetic postganglionic fiber morphology def: "any structural anomaly of any or all of the cholinergic axonal fibers projecting from a parasympathetic ganglion to an effector organ" [MESH:A08.663.542.100.700, MGI:csmith] is_a: MP:0001033 ! abnormal parasympathetic system morphology [Term] id: MP:0008314 name: abnormal pterygopalatine ganglion morphology def: "any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands" [ISBN:0-683-40008-8] synonym: "abnormal Meckel ganglion morphology" EXACT [] synonym: "abnormal nasal ganglion morphology" EXACT [] synonym: "abnormal palatine ganglion morphology" EXACT [] synonym: "abnormal pterygopalatine ganglia morphology" EXACT [] synonym: "abnormal sphenopalatine ganglion morphology" EXACT [] is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology [Term] id: MP:0008315 name: abnormal otic ganglion morphology def: "any structural anomaly of the ganglion that supplies nerve fibers to the parotid gland" [ISBN:0-683-40008-8] synonym: "abnormal Arnold ganglion morphology" EXACT [] synonym: "abnormal auricular ganglion morphology" EXACT [] synonym: "abnormal otic ganglia morphology" EXACT [] synonym: "abnormal otoganglion morphology" EXACT [] is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology [Term] id: MP:0008316 name: abnormal prevertebral ganglion morphology def: "any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia" [ISBN:0-683-40008-8] synonym: "abnormal prevertebral ganglia morphology" EXACT [] is_a: MP:0001008 ! abnormal sympathetic ganglion morphology [Term] id: MP:0008317 name: abnormal paravertebral ganglion morphology def: "any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia" [ISBN:0-683-40008-8] synonym: "abnormal chain ganglia" EXACT [] synonym: "abnormal chain ganglion" EXACT [] synonym: "abnormal ganglia of sympathetic trunk" EXACT [] synonym: "abnormal paravertebral ganglia" EXACT [] synonym: "abnormal sympathetic chain ganglia" EXACT [] is_a: MP:0001008 ! abnormal sympathetic ganglion morphology [Term] id: MP:0008318 name: abnormal splanchnic nerve morphology def: "any structural anomaly of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia" [MESH:A08.800.050.050.800] synonym: "abnormal abdominopelvic splanchnic nerve morphology" NARROW [] synonym: "abnormal cardiopulmonary splanchnic nerve morphology" NARROW [] synonym: "abnormal pelvic splanchnic nerve morphology" NARROW [] is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0008319 name: abnormal sympathetic afferent fiber morphology def: "any structural anomaly of the fibers that conduct sensory nerve impulses from the viscera through the posterior dorsal roots into the spinal cord" [ISBN:0838580343, MGI:csmith] synonym: "abnormal general visceral afferent fiber morphology" EXACT [] synonym: "abnormal GVA morphology" EXACT [] is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0008320 name: absent adenohypophysis def: "absence of the anterior part of the pituitary that secretes a variety of hormones" [MGI:csmith] synonym: "absent adenophysis" EXACT [] synonym: "absent anterior pituitary lobe" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008321 name: small adenohypophysis def: "reduced size of the anterior part of the pituitary that secretes a variety of hormones" [MGI:csmith] synonym: "small adenophysis" EXACT [] synonym: "small anterior pituitary lobe" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008322 name: abnormal somatotroph morphology def: "any structural anomaly of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [CL:0000295, MESH:A06.407.747.608.937] synonym: "abnormal growth hormone secreting cell morphology" RELATED [] synonym: "abnormal somatotrope morphology" EXACT [] synonym: "abnormal somatotrophin secreting cell morphology" EXACT [] synonym: "abnormal somatotropic cell morphology" EXACT [] synonym: "abnormal somatotropin secreting cell morphology" EXACT [] synonym: "abnormal somatrophic cell morphology" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008323 name: abnormal lactotroph morphology def: "any structural anomaly of an acidophilic cell of the anterior pituitary that produces prolactin" [CL:0000439, MESH:A06.407.747.608.812] synonym: "abnormal epsilon-acidophil morphology" EXACT [] synonym: "abnormal lactotrope morphology" EXACT [] synonym: "abnormal lactotropic cell morphology" EXACT [] synonym: "abnormal mammotrope morphology" EXACT [] synonym: "abnormal mammotroph morphology" EXACT [] synonym: "abnormal mammotrophic cell morphology" EXACT [] synonym: "abnormal mammotropic cell morphology" EXACT [] synonym: "abnormal prolactin secreting cell morphology" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008324 name: abnormal melanotroph morphology def: "any structural anomaly of a cell of the intermediate pituitary that produces melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC)" [CL:0000440, MESH:A06.407.747.671.500] synonym: "abnormal melanocyte stimulating hormone secreting cell morphology" EXACT [] synonym: "abnormal melanotrope morphology" EXACT [] is_a: MP:0008130 ! abnormal pituitary intermediate lobe morphology [Term] id: MP:0008325 name: abnormal gonadotroph morphology def: "any structural anomaly of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750] synonym: "abnormal FSH cells" NARROW [] synonym: "abnormal FSH-producing cells" NARROW [] synonym: "abnormal FSH-secreting cells" NARROW [] synonym: "abnormal gonadotrope morphology" EXACT [] synonym: "abnormal gonadotrophic hormone secreting cell morphology" EXACT [] synonym: "abnormal LH cells" NARROW [] synonym: "abnormal LH-producing cells" NARROW [] synonym: "abnormal LH-secreting cells" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008326 name: abnormal thyrotroph morphology def: "any structural anomaly of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968] synonym: "abnormal pituitary TSH-producing cell" EXACT [] synonym: "abnormal pituitary TSH-secreting cell" EXACT [] synonym: "abnormal thymotrope morphology" EXACT [] synonym: "abnormal thyreotroph morphology" EXACT [] synonym: "abnormal thyroid-hormone secreting cell" RELATED [] synonym: "abnormal thyrotrope morphology" EXACT [] synonym: "abnormal TSH cells" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008327 name: abnormal corticotroph morphology def: "any structural anomaly of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)" [CL:0000467, MESH:A06.407.747.608.500] synonym: "abnormal adrenocorticotrophic hormone secreting cell" EXACT [] synonym: "abnormal adrenocorticotropic hormone secreting cell morphology" EXACT [] synonym: "abnormal corticotrope morphology" EXACT [] synonym: "abnormal corticotrophin hormone secreting cell" EXACT [] synonym: "abnormal corticotropin hormone secreting cell" EXACT [] synonym: "abnormal pituitary ACTH-producing cells" EXACT [] synonym: "abnormal pituitary ACTH-secreting cells" EXACT [] synonym: "abnormal pituitary adrenocorticotropin-secreting cells" EXACT [] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008328 name: increased somatotroph cell number def: "greater number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [CL:0000295, MESH:A06.407.747.608.937] synonym: "increased growth hormone secreting cell number" RELATED [] synonym: "increased somatotrope number" EXACT [] synonym: "increased somatotrophin secreting cell number" EXACT [] synonym: "increased somatotropic cell number" EXACT [] synonym: "increased somatotropin secreting cell number" EXACT [] synonym: "increased somatrophic cell number" EXACT [] synonym: "somatotrope hyperplasia" EXACT [] is_a: MP:0008322 ! abnormal somatotroph morphology [Term] id: MP:0008329 name: decreased somatotroph cell number def: "reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [CL:0000295, MESH:A06.407.747.608.937] synonym: "decreased growth hormone secreting cell number" RELATED [] synonym: "decreased somatotrope number" EXACT [] synonym: "decreased somatotrophin secreting cell number" EXACT [] synonym: "decreased somatotropic cell number" EXACT [] synonym: "decreased somatotropin secreting cell number" EXACT [] synonym: "decreased somatrophic cell number" EXACT [] synonym: "reduced growth hormone secreting cell number" RELATED [] synonym: "reduced somatotrope number" EXACT [] synonym: "reduced somatotrophin secreting cell number" EXACT [] synonym: "reduced somatotropic cell number" EXACT [] synonym: "reduced somatotropin secreting cell number" EXACT [] synonym: "reduced somatrophic cell number" EXACT [] is_a: MP:0008322 ! abnormal somatotroph morphology [Term] id: MP:0008330 name: absent somatotrophs def: "absence of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [CL:0000295, MESH:A06.407.747.608.937] synonym: "absent growth hormone secreting cell" RELATED [] synonym: "absent somatotrope" EXACT [] synonym: "absent somatotrophin secreting cell" EXACT [] synonym: "absent somatotropic cell" EXACT [] synonym: "absent somatotropin secreting cell" EXACT [] synonym: "absent somatrophic cell" EXACT [] is_a: MP:0008329 ! decreased somatotroph cell number [Term] id: MP:0008331 name: increased lactotroph cell number def: "greater number of an acidophilic cell of the anterior pituitary that produces prolactin" [CL:0000439, MESH:A06.407.747.608.812] synonym: "increased epsilon-acidophil number" EXACT [] synonym: "increased lactotrope number" EXACT [] synonym: "increased lactotropic cell number" EXACT [] synonym: "increased mammotrope number" EXACT [] synonym: "increased mammotroph number" EXACT [] synonym: "increased mammotrophic cell number" EXACT [] synonym: "increased mammotropic cell number" EXACT [] synonym: "increased prolactin secreting cell number" EXACT [] synonym: "lactotrope hyperplasia" EXACT [] is_a: MP:0008323 ! abnormal lactotroph morphology [Term] id: MP:0008332 name: decreased lactotroph cell number def: "reduced number of an acidophilic cell of the anterior pituitary that produces prolactin" [CL:0000439, MESH:A06.407.747.608.812] synonym: "decreased epsilon-acidophil number" EXACT [] synonym: "decreased lactotrope number" EXACT [] synonym: "decreased lactotropic cell number" EXACT [] synonym: "decreased mammotrope number" EXACT [] synonym: "decreased mammotroph number" EXACT [] synonym: "decreased mammotrophic cell number" EXACT [] synonym: "decreased mammotropic cell number" EXACT [] synonym: "decreased prolactin secreting cell number" EXACT [] synonym: "reduced epsilon-acidophil number" EXACT [] synonym: "reduced lactotrope number" EXACT [] synonym: "reduced lactotropic cell number" EXACT [] synonym: "reduced mammotrope number" EXACT [] synonym: "reduced mammotroph number" EXACT [] synonym: "reduced mammotrophic cell number" EXACT [] synonym: "reduced mammotropic cell number" EXACT [] synonym: "reduced prolactin secreting cell number" EXACT [] is_a: MP:0008323 ! abnormal lactotroph morphology [Term] id: MP:0008333 name: absent lactotrophs def: "absence of an acidophilic cell of the anterior pituitary that produces prolactin" [CL:0000439, MESH:A06.407.747.608.812] synonym: "absent epsilon-acidophil" EXACT [] synonym: "absent lactotrope" EXACT [] synonym: "absent lactotropic cell" EXACT [] synonym: "absent mammotrope" EXACT [] synonym: "absent mammotroph" EXACT [] synonym: "absent mammotrophic cell" EXACT [] synonym: "absent mammotropic cell" EXACT [] synonym: "absent prolactin secreting cell" EXACT [] is_a: MP:0008332 ! decreased lactotroph cell number [Term] id: MP:0008334 name: increased gonadotroph cell number def: "greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750] synonym: "gonadotrope hyperplasia" EXACT [] synonym: "increased FSH cell number" NARROW [] synonym: "increased FSH-producing cell number" NARROW [] synonym: "increased FSH-secreting cell number" NARROW [] synonym: "increased gonadotrope number" EXACT [] synonym: "increased gonadotrophic hormone secreting cell number" EXACT [] synonym: "increased LH cell number" NARROW [] synonym: "increased LH-producing cell number" NARROW [] synonym: "increased LH-secreting cell number" EXACT [] is_a: MP:0008325 ! abnormal gonadotroph morphology [Term] id: MP:0008335 name: decreased gonadotroph cell number def: "reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750] synonym: "decreased FSH cell number" NARROW [] synonym: "decreased FSH-producing cell number" NARROW [] synonym: "decreased FSH-secreting cell number" NARROW [] synonym: "decreased gonadotrope number" EXACT [] synonym: "decreased gonadotrophic hormone secreting cell number" EXACT [] synonym: "decreased LH cell number" NARROW [] synonym: "decreased LH-producing cell number" NARROW [] synonym: "decreased LH-secreting cell number" EXACT [] synonym: "reduced FSH cell number" NARROW [] synonym: "reduced FSH-producing cell number" NARROW [] synonym: "reduced FSH-secreting cell number" NARROW [] synonym: "reduced gonadotrope number" EXACT [] synonym: "reduced gonadotrophic hormone secreting cell number" EXACT [] synonym: "reduced LH cell number" NARROW [] synonym: "reduced LH-producing cell number" NARROW [] synonym: "reduced LH-secreting cell number" EXACT [] is_a: MP:0008325 ! abnormal gonadotroph morphology [Term] id: MP:0008336 name: absent gonadotrophs def: "absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750] synonym: "absent FSH cell" NARROW [] synonym: "absent FSH-producing cell" NARROW [] synonym: "absent FSH-secreting cell" NARROW [] synonym: "absent gonadotrope" EXACT [] synonym: "absent gonadotrophic hormone secreting cell" EXACT [] synonym: "absent LH cell" NARROW [] synonym: "absent LH-producing cell" NARROW [] synonym: "absent LH-secreting cell" EXACT [] is_a: MP:0008335 ! decreased gonadotroph cell number [Term] id: MP:0008337 name: increased thyrotroph cell number def: "greater number of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968] synonym: "increased pituitary TSH-producing cell number" EXACT [] synonym: "increased pituitary TSH-secreting cell number" EXACT [] synonym: "increased thymotrope number" EXACT [] synonym: "increased thyreotroph number" EXACT [] synonym: "increased thyroid-hormone secreting cell number" RELATED [] synonym: "increased thyrotrope number" EXACT [] synonym: "increased TSH cell number" EXACT [] synonym: "thyrotrope hyperplasia" EXACT [] is_a: MP:0008326 ! abnormal thyrotroph morphology [Term] id: MP:0008338 name: decreased thyrotroph cell number def: "reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968] synonym: "decreased pituitary TSH-producing cell number" EXACT [] synonym: "decreased pituitary TSH-secreting cell number" EXACT [] synonym: "decreased thymotrope number" EXACT [] synonym: "decreased thyreotroph number" EXACT [] synonym: "decreased thyroid-hormone secreting cell number" RELATED [] synonym: "decreased thyrotrope number" EXACT [] synonym: "decreased TSH cell number" EXACT [] synonym: "reduced pituitary TSH-producing cell number" EXACT [] synonym: "reduced pituitary TSH-secreting cell number" EXACT [] synonym: "reduced thymotrope number" EXACT [] synonym: "reduced thyreotroph number" EXACT [] synonym: "reduced thyroid-hormone secreting cell number" RELATED [] synonym: "reduced thyrotrope number" EXACT [] synonym: "reduced TSH cell number" EXACT [] is_a: MP:0008326 ! abnormal thyrotroph morphology [Term] id: MP:0008339 name: absent thyrotrophs def: "absence of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968] synonym: "absent pituitary TSH-producing cell" EXACT [] synonym: "absent pituitary TSH-secreting cell" EXACT [] synonym: "absent thymotrope" EXACT [] synonym: "absent thyreotroph" EXACT [] synonym: "absent thyroid-hormone secreting cell" RELATED [] synonym: "absent thyrotrope" EXACT [] synonym: "absent TSH cell" EXACT [] is_a: MP:0008338 ! decreased thyrotroph cell number [Term] id: MP:0008340 name: increased corticotroph cell number def: "greater number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)" [CL:0000467, MESH:A06.407.747.608.500] synonym: "corticotrope hyperplasia" EXACT [] synonym: "increased adrenocorticotrophic hormone secreting cell number" EXACT [] synonym: "increased adrenocorticotropic hormone secreting cell number" EXACT [] synonym: "increased corticotrope number" EXACT [] synonym: "increased corticotrophin hormone secreting cell number" EXACT [] synonym: "increased corticotropin hormone secreting cell number" EXACT [] synonym: "increased pituitary ACTH-producing cell number" EXACT [] synonym: "increased pituitary ACTH-secreting cell number" EXACT [] synonym: "increased pituitary adrenocorticotropin-secreting cell number" EXACT [] is_a: MP:0008327 ! abnormal corticotroph morphology [Term] id: MP:0008341 name: decreased corticotroph cell number def: "reduced number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)" [CL:0000467, MESH:A06.407.747.608.500] synonym: "decreased adrenocorticotrophic hormone secreting cell number" EXACT [] synonym: "decreased adrenocorticotropic hormone secreting cell number" EXACT [] synonym: "decreased corticotrope number" EXACT [] synonym: "decreased corticotrophin hormone secreting cell number" EXACT [] synonym: "decreased corticotropin hormone secreting cell number" EXACT [] synonym: "decreased pituitary ACTH-producing cell number" EXACT [] synonym: "decreased pituitary ACTH-secreting cell number" EXACT [] synonym: "decreased pituitary adrenocorticotropin-secreting cell number" EXACT [] synonym: "reduced adrenocorticotrophic hormone secreting cell number" EXACT [] synonym: "reduced adrenocorticotropic hormone secreting cell number" EXACT [] synonym: "reduced corticotrope number" EXACT [] synonym: "reduced corticotrophin hormone secreting cell number" EXACT [] synonym: "reduced corticotropin hormone secreting cell number" EXACT [] synonym: "reduced pituitary ACTH-producing cell number" EXACT [] synonym: "reduced pituitary ACTH-secreting cell number" EXACT [] synonym: "reduced pituitary adrenocorticotropin-secreting cell number" EXACT [] is_a: MP:0008327 ! abnormal corticotroph morphology [Term] id: MP:0008342 name: absent corticotrophs def: "absence of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)" [CL:0000467, MESH:A06.407.747.608.500] synonym: "absent adrenocorticotrophic hormone secreting cell" EXACT [] synonym: "absent adrenocorticotropic hormone secreting cell" EXACT [] synonym: "absent corticotrope" EXACT [] synonym: "absent corticotrophin hormone secreting cell" EXACT [] synonym: "absent corticotropin hormone secreting cell" EXACT [] synonym: "absent pituitary ACTH-producing cell" EXACT [] synonym: "absent pituitary ACTH-secreting cell" EXACT [] synonym: "absent pituitary adrenocorticotropin-secreting cell" EXACT [] is_a: MP:0008341 ! decreased corticotroph cell number [Term] id: MP:0008343 name: abnormal gamma-delta T cell morphology def: "any structural anomaly of an immature or mature T cell expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "abnormal gamma-delta T lymphocyte morphology" EXACT [] synonym: "abnormal gamma-delta T-cell morphology" EXACT [] synonym: "abnormal gamma-delta T-lymphocyte morphology" EXACT [] synonym: "abnormal TCRgd cell morphology" EXACT [] is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0008344 name: abnormal mature gamma-delta T cell morphology def: "any structural anomaly of a mature T cell expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "abnormal mature gamma-delta T lymphocyte morphology" EXACT [] synonym: "abnormal mature gamma-delta T-cell morphology" EXACT [] synonym: "abnormal mature gamma-delta T-lymphocyte morphology" EXACT [] is_a: MP:0008343 ! abnormal gamma-delta T cell morphology [Term] id: MP:0008345 name: abnormal gamma-delta T cell number def: "anomaly in the number of immature or mature T cells expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "abnormal gamma-delta T lymphocyte number" EXACT [] synonym: "abnormal gamma-delta T-cell number" EXACT [] synonym: "abnormal gamma-delta T-lymphocyte number" EXACT [] is_a: MP:0006387 ! abnormal T cell number is_a: MP:0008343 ! abnormal gamma-delta T cell morphology [Term] id: MP:0008346 name: increased gamma-delta T cell number def: "greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "increased gamma-delta T lymphocyte number" EXACT [] synonym: "increased gamma-delta T-cell number" EXACT [] synonym: "increased gamma-delta T-lymphocyte number" EXACT [] is_a: MP:0005015 ! increased T cell number is_a: MP:0008345 ! abnormal gamma-delta T cell number [Term] id: MP:0008347 name: decreased gamma-delta T cell number def: "reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "decreased gamma-delta T lymphocyte number" EXACT [] synonym: "decreased gamma-delta T-cell number" EXACT [] synonym: "decreased gamma-delta T-lymphocyte number" EXACT [] synonym: "reduced gamma-delta T lymphocyte number" EXACT [] synonym: "reduced gamma-delta T-cell number" EXACT [] synonym: "reduced gamma-delta T-lymphocyte number" EXACT [] is_a: MP:0005018 ! decreased T cell number is_a: MP:0008345 ! abnormal gamma-delta T cell number [Term] id: MP:0008348 name: absent gamma-delta T cells def: "absence of immature or mature T cells expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "absent gamma-delta T lymphocyte" EXACT [] synonym: "absent gamma-delta T-cell" EXACT [] synonym: "absent gamma-delta T-lymphocyte" EXACT [] is_a: MP:0008070 ! absent T cells is_a: MP:0008347 ! decreased gamma-delta T cell number [Term] id: MP:0008349 name: abnormal gamma-delta intraepithelial T cell morphology def: "any structural anomaly of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000801, ISBN:0781735149] synonym: "abnormal gamma-delta intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal gamma-delta intraepithelial T-cell morphology" EXACT [] synonym: "abnormal gamma-delta intraepithelial T-lymphocyte morphology" EXACT [] synonym: "abnormal IEL morphology" BROAD [] is_a: MP:0008344 ! abnormal mature gamma-delta T cell morphology is_a: MP:0008894 ! abnormal intraepithelial T cell morphology [Term] id: MP:0008350 name: increased gamma-delta intraepithelial T cell number def: "greater number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000801, ISBN:0781735149] synonym: "increased gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "increased gamma-delta intraepithelial T-cell number" EXACT [] synonym: "increased gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "increased IEL number" BROAD [] synonym: "increased intraepithelial lymphocyte number" BROAD [] is_a: MP:0008349 ! abnormal gamma-delta intraepithelial T cell morphology is_a: MP:0008353 ! increased mature gamma-delta T cell number is_a: MP:0008895 ! abnormal intraepithelial T cell number [Term] id: MP:0008351 name: decreased gamma-delta intraepithelial T cell number def: "reduced number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000801, ISBN:0781735149] synonym: "decreased gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "decreased gamma-delta intraepithelial T-cell number" EXACT [] synonym: "decreased gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "decreased IEL number" BROAD [] synonym: "decreased intraepithelial lymphocyte number" BROAD [] synonym: "reduced gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "reduced gamma-delta intraepithelial T-cell number" EXACT [] synonym: "reduced gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "reduced IEL number" BROAD [] synonym: "reduced intraepithelial lymphocyte number" BROAD [] is_a: MP:0008349 ! abnormal gamma-delta intraepithelial T cell morphology is_a: MP:0008354 ! decreased mature gamma-delta T cell number is_a: MP:0008895 ! abnormal intraepithelial T cell number [Term] id: MP:0008352 name: absent gamma-delta intraepithelial T cell def: "absence of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000801, ISBN:0781735149] synonym: "absent gamma-delta intraepithelial T lymphocyte" EXACT [] synonym: "absent gamma-delta intraepithelial T-cell" EXACT [] synonym: "absent gamma-delta intraepithelial T-lymphocyte" EXACT [] synonym: "absent IEL" BROAD [] synonym: "absent intraepithelial lymphocyte" BROAD [] is_a: MP:0008351 ! decreased gamma-delta intraepithelial T cell number is_a: MP:0008355 ! absent mature gamma-delta T cells [Term] id: MP:0008353 name: increased mature gamma-delta T cell number def: "increased number of a mature T cell expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "increased mature gamma-delta T lymphocyte number" EXACT [] synonym: "increased mature gamma-delta T-cell number" EXACT [] synonym: "increased mature gamma-delta T-lymphocyte number" EXACT [] is_a: MP:0008344 ! abnormal mature gamma-delta T cell morphology is_a: MP:0008346 ! increased gamma-delta T cell number [Term] id: MP:0008354 name: decreased mature gamma-delta T cell number def: "reduced number of a mature T cell expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "decreased mature gamma-delta T lymphocyte number" EXACT [] synonym: "decreased mature gamma-delta T-cell number" EXACT [] synonym: "decreased mature gamma-delta T-lymphocyte number" EXACT [] synonym: "reduced mature gamma-delta T lymphocyte number" EXACT [] synonym: "reduced mature gamma-delta T-cell number" EXACT [] synonym: "reduced mature gamma-delta T-lymphocyte number" EXACT [] is_a: MP:0008344 ! abnormal mature gamma-delta T cell morphology is_a: MP:0008347 ! decreased gamma-delta T cell number [Term] id: MP:0008355 name: absent mature gamma-delta T cells def: "absence of a mature T cell expressing an gamma-delta T cell receptor complex" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "absent mature gamma-delta T lymphocyte" EXACT [] synonym: "absent mature gamma-delta T-cell" EXACT [] synonym: "absent mature gamma-delta T-lymphocyte" EXACT [] is_a: MP:0008348 ! absent gamma-delta T cells is_a: MP:0008354 ! decreased mature gamma-delta T cell number [Term] id: MP:0008356 name: abnormal gamma-delta T cell differentiation def: "atypical production of or inability to produce gamma-delta T cells, and/or accumulation of gamma-delta T cell precursors" [CL:0000798, ISBN:0781735149] comment: Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. synonym: "abnormal gamma-delta T lymphocyte differentiation" EXACT [] synonym: "abnormal gamma-delta T-cell differentiation" EXACT [] synonym: "abnormal gamma-delta T-lymphocyte differentiation" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation is_a: MP:0008343 ! abnormal gamma-delta T cell morphology [Term] id: MP:0008357 name: abnormal CD4-positive, gamma-delta intraepithelial T cell morphology def: "any structural anomaly of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "abnormal CD4-positive, gamma-delta intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal CD4-positive, gamma-delta intraepithelial T-cell morphology" EXACT [] synonym: "abnormal CD4-positive, gamma-delta intraepithelial T-lymphocyte morphology" EXACT [] synonym: "abnormal IEL morphology" BROAD [] synonym: "abnormal intraepithelial lymphocyte morphology" BROAD [] is_a: MP:0008349 ! abnormal gamma-delta intraepithelial T cell morphology [Term] id: MP:0008358 name: increased CD4-positive, gamma-delta intraepithelial T cell number def: "greater number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "increased CD4-positive, gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "increased CD4-positive, gamma-delta intraepithelial T-cell number" EXACT [] synonym: "increased CD4-positive, gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "increased IEL number" BROAD [] synonym: "increased intraepithelial lymphocyte number" BROAD [] is_a: MP:0008350 ! increased gamma-delta intraepithelial T cell number is_a: MP:0008357 ! abnormal CD4-positive, gamma-delta intraepithelial T cell morphology [Term] id: MP:0008359 name: decreased CD4-positive, gamma-delta intraepithelial T cell number def: "reduced number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "decreased CD4-positive, gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "decreased CD4-positive, gamma-delta intraepithelial T-cell number" EXACT [] synonym: "decreased CD4-positive, gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "decreased IEL number" BROAD [] synonym: "decreased intraepithelial lymphocyte number" BROAD [] synonym: "reduced CD4-positive, gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "reduced CD4-positive, gamma-delta intraepithelial T-cell number" EXACT [] synonym: "reduced CD4-positive, gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "reduced IEL number" BROAD [] synonym: "reduced intraepithelial lymphocyte number" BROAD [] is_a: MP:0008351 ! decreased gamma-delta intraepithelial T cell number is_a: MP:0008357 ! abnormal CD4-positive, gamma-delta intraepithelial T cell morphology [Term] id: MP:0008360 name: absent CD4-positive, gamma-delta intraepithelial T cells def: "absence of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "absent CD4-positive, gamma-delta intraepithelial T lymphocyte" EXACT [] synonym: "absent CD4-positive, gamma-delta intraepithelial T-cell" EXACT [] synonym: "absent CD4-positive, gamma-delta intraepithelial T-lymphocyte" EXACT [] synonym: "absent IEL" BROAD [] synonym: "absent intraepithelial lymphocyte" BROAD [] is_a: MP:0008352 ! absent gamma-delta intraepithelial T cell is_a: MP:0008359 ! decreased CD4-positive, gamma-delta intraepithelial T cell number [Term] id: MP:0008361 name: abnormal CD8-positive, gamma-delta intraepithelial T cell morphology def: "any structural anomaly of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "abnormal CD8-positive, gamma-delta intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, gamma-delta intraepithelial T-cell morphology" EXACT [] synonym: "abnormal CD8-positive, gamma-delta intraepithelial T-lymphocyte morphology" EXACT [] synonym: "abnormal IEL morphology" BROAD [] synonym: "abnormal intraepithelial lymphocyte morphology" BROAD [] is_a: MP:0008349 ! abnormal gamma-delta intraepithelial T cell morphology [Term] id: MP:0008362 name: increased CD8-positive, gamma-delta intraepithelial T cell number def: "greater number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "increased CD8-positive, gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "increased CD8-positive, gamma-delta intraepithelial T-cell number" EXACT [] synonym: "increased CD8-positive, gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "increased IEL number" BROAD [] synonym: "increased intraepithelial lymphocyte number" BROAD [] is_a: MP:0008350 ! increased gamma-delta intraepithelial T cell number is_a: MP:0008361 ! abnormal CD8-positive, gamma-delta intraepithelial T cell morphology [Term] id: MP:0008363 name: decreased CD8-positive, gamma-delta intraepithelial T cell number def: "reduced number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "decreased CD8-positive, gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "decreased CD8-positive, gamma-delta intraepithelial T-cell number" EXACT [] synonym: "decreased CD8-positive, gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "decreased IEL number" BROAD [] synonym: "decreased intraepithelial lymphocyte number" BROAD [] synonym: "reduced CD8-positive, gamma-delta intraepithelial T lymphocyte number" EXACT [] synonym: "reduced CD8-positive, gamma-delta intraepithelial T-cell number" EXACT [] synonym: "reduced CD8-positive, gamma-delta intraepithelial T-lymphocyte number" EXACT [] synonym: "reduced IEL number" BROAD [] synonym: "reduced intraepithelial lymphocyte number" BROAD [] is_a: MP:0008351 ! decreased gamma-delta intraepithelial T cell number is_a: MP:0008361 ! abnormal CD8-positive, gamma-delta intraepithelial T cell morphology [Term] id: MP:0008364 name: absent CD8-positive, gamma-delta intraepithelial T cells def: "absence of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [CL:0000803, ISBN:0781735149] synonym: "absent CD8-positive, gamma-delta intraepithelial T lymphocyte" EXACT [] synonym: "absent CD8-positive, gamma-delta intraepithelial T-cell" EXACT [] synonym: "absent CD8-positive, gamma-delta intraepithelial T-lymphocyte" EXACT [] synonym: "absent IEL" BROAD [] synonym: "absent intraepithelial lymphocyte" BROAD [] is_a: MP:0008352 ! absent gamma-delta intraepithelial T cell is_a: MP:0008363 ! decreased CD8-positive, gamma-delta intraepithelial T cell number [Term] id: MP:0008365 name: adenohypophysis hypoplasia def: "underdevelopment or reduced size, usually due to a reduced cell number, of the anterior lobe of the pituitary gland" [MGI:csmith] synonym: "adenophysis hypoplasia" EXACT [] synonym: "hypoplastic adenohypophysis" EXACT [] synonym: "hypoplastic anterior lobe of the pituitary" EXACT [] synonym: "pituitary anterior lobe hypoplasia" EXACT [] is_a: MP:0008321 ! small adenohypophysis [Term] id: MP:0008366 name: enlarged adenohypophysis def: "increased size of the anterior part of the pituitary that secretes a variety of hormones" [MGI:csmith] is_a: MP:0004163 ! abnormal adenohypophysis morphology [Term] id: MP:0008367 name: absent pituitary intermediate lobe def: "absence of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults" [MGI:csmith] synonym: "absence of pituitary intermediate lobe" EXACT [] is_a: MP:0008130 ! abnormal pituitary intermediate lobe morphology [Term] id: MP:0008368 name: small pituitary intermediate lobe def: "reduced size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults" [MGI:csmith] synonym: "decreased pituitary intermediate lobe size" EXACT [] synonym: "reduced pituitary intermediate lobe size" EXACT [] is_a: MP:0008130 ! abnormal pituitary intermediate lobe morphology [Term] id: MP:0008369 name: pituitary intermediate lobe hypoplasia def: "underdevelopment or reduced size, usually due to a reduced cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults" [MGI:csmith] is_a: MP:0008368 ! small pituitary intermediate lobe [Term] id: MP:0008370 name: enlarged pituitary intermediate lobe def: "increased size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults" [MGI:csmith] synonym: "increased pituitary intermediate lobe size" EXACT [] is_a: MP:0008130 ! abnormal pituitary intermediate lobe morphology [Term] id: MP:0008371 name: pituitary intermediate lobe hyperplasia def: "overdevelopment or increased size, usually due to increased cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults" [MGI:csmith] is_a: MP:0008370 ! enlarged pituitary intermediate lobe [Term] id: MP:0008372 name: small malleus def: "reduced size of the largest of the three auditory ossicles, which resembles a club or hammer" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0000029 ! abnormal malleus morphology [Term] id: MP:0008373 name: short malleus def: "reduced length of the largest of the three auditory ossicles, which resembles a club or hammer" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0008372 ! small malleus [Term] id: MP:0008374 name: abnormal malleus manubrium morphology def: "any structural anomaly in the handle of the malleus, which extends downward, inward, and backward from the neck of the malleus and is embedded throughout its length in the tympanic membrane" [MGI:anna] synonym: "abnormal handle of malleus morphology" EXACT [] synonym: "abnormal malleal manubrium morphology" EXACT [] synonym: "abnormal malleus handle morphology" EXACT [] synonym: "abnormal manubrium mallei morphology" EXACT [] synonym: "abnormal manubrium morphology" BROAD [] synonym: "abnormal manubrium of malleus morphology" EXACT [] is_a: MP:0000029 ! abnormal malleus morphology [Term] id: MP:0008375 name: short malleus manubrium def: "reduced length of the handle of the malleus" [MGI:anna] synonym: "short handle of malleus" EXACT [] synonym: "short malleal manubrium" EXACT [] synonym: "short malleus handle" EXACT [] synonym: "short manubrium" BROAD [] synonym: "short manubrium mallei" EXACT [] synonym: "short manubrium of malleus" EXACT [] is_a: MP:0008376 ! small malleus manubrium [Term] id: MP:0008376 name: small malleus manubrium def: "reduced size of the handle of the malleus" [MGI:anna] synonym: "small handle of malleus" EXACT [] synonym: "small malleal manubrium" EXACT [] synonym: "small malleus handle" EXACT [] synonym: "small manubrium" BROAD [] synonym: "small manubrium mallei" EXACT [] synonym: "small manubrium of malleus" EXACT [] is_a: MP:0008374 ! abnormal malleus manubrium morphology [Term] id: MP:0008377 name: absent malleus manubrium def: "absence of the handle of the malleus" [MGI:anna] synonym: "absent handle of malleus" EXACT [] synonym: "absent malleal manubrium" EXACT [] synonym: "absent malleus handle" EXACT [] synonym: "absent manubrium" BROAD [] synonym: "absent manubrium mallei" EXACT [] synonym: "absent manubrium of malleus" EXACT [] is_a: MP:0008374 ! abnormal malleus manubrium morphology [Term] id: MP:0008378 name: small malleus processus brevis def: "reduced size of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane" [MGI:anna] synonym: "small malleal processus brevis" EXACT [] is_a: MP:0010324 ! abnormal malleus processus brevis morphology [Term] id: MP:0008379 name: absent malleus head def: "absence of the rounded portion of the malleus articulating with the body of the incus" [MGI:anna] synonym: "absent caput mallei" EXACT [] synonym: "absent head of malleus" EXACT [] is_a: MP:0010325 ! abnormal malleus head morphology [Term] id: MP:0008380 name: abnormal gonial bone morphology def: "any structural anomaly of the investing bone that lies on the surface of the malleus" [MGI:anna] synonym: "abnormal gonium" EXACT [] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0008381 name: absent gonial bone def: "absence of the investing bone that normally lies on the surface of the malleus" [MGI:anna] synonym: "absent gonium" EXACT [] is_a: MP:0008380 ! abnormal gonial bone morphology [Term] id: MP:0008382 name: gonial bone hypoplasia def: "underdevelopment or reduced size of the investing bone that lies on the surface of the malleus, usually due to reduced cell number" [MGI:anna] synonym: "hypoplastic gonium" EXACT [] is_a: MP:0008380 ! abnormal gonial bone morphology [Term] id: MP:0008383 name: enlarged gonial bone def: "increased size of the investing bone that lies on the surface of the malleus" [MGI:anna] synonym: "enlarged gonium" EXACT [] is_a: MP:0008380 ! abnormal gonial bone morphology [Term] id: MP:0008384 name: absent nasal capsule def: "absence of the cartilage around the developing nasal cavity of the embryo" [MGI:anna] is_a: MP:0004726 ! abnormal nasal capsule morphology [Term] id: MP:0008385 name: absent basisphenoid bone def: "absence of the part of the base of the cranium found between the basioccipital and the presphenoid bone" [MGI:anna] is_a: MP:0000106 ! abnormal basisphenoid bone morphology [Term] id: MP:0008386 name: absent styloid process def: "absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion" [MGI:anna] is_a: MP:0008023 ! abnormal styloid process morphology [Term] id: MP:0008387 name: hypochromic anemia def: "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs" [MGI:csmith, MGI:smb] synonym: "normocytic hypochromic anemia" NARROW [] is_a: MP:0001577 ! anemia [Term] id: MP:0008388 name: hypochromic microcytic anemia def: "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal" [MGI:csmith] synonym: "microcytic hypochromic anemia" EXACT [] is_a: MP:0002810 ! microcytic anemia is_a: MP:0008387 ! hypochromic anemia [Term] id: MP:0008389 name: hypochromic macrocytic anemia def: "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is larger than normal" [MGI:csmith] synonym: "macrocytic hypochromic anemia" EXACT [] is_a: MP:0002811 ! macrocytic anemia is_a: MP:0008387 ! hypochromic anemia [Term] id: MP:0008390 name: abnormal primordial germ cell proliferation def: "anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0008391 name: abnormal primordial germ cell morphology def: "any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith] synonym: "abnormal PGC morphology" EXACT [] xref: CL:0000670 is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0008392 name: decreased primordial germ cell number def: "reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith] synonym: "decreased PGC number" EXACT [] synonym: "reduced PGC number" EXACT [] synonym: "reduced primordial germ cell number" EXACT [] is_a: MP:0002209 ! decreased germ cell number is_a: MP:0008391 ! abnormal primordial germ cell morphology [Term] id: MP:0008393 name: absent primordial germ cells def: "absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith] synonym: "absent PGCs" EXACT [] is_a: MP:0004806 ! absent germ cells is_a: MP:0008392 ! decreased primordial germ cell number [Term] id: MP:0008394 name: increased primordial germ cell number def: "greater number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith] synonym: "increased PGC number" EXACT [] is_a: MP:0008391 ! abnormal primordial germ cell morphology [Term] id: MP:0008395 name: abnormal osteoblast differentiation alt_id: MP:0005008 def: "atypical production of or inability to produce bone-forming cells, which secrete extracellular matrix components and form an osseous matrix (osteoid)" [MESH:A.11.329.629, MGI:csmith] synonym: "abnormal osteoblast formation" EXACT [] synonym: "abnormal osteoplast formation" EXACT [] is_a: MP:0002113 ! abnormal skeleton development is_a: MP:0004986 ! abnormal osteoblast morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0008396 name: abnormal osteoclast differentiation alt_id: MP:0000059 def: "atypical production of or inability to produce bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith] synonym: "abnormal osteoclast formation" EXACT [] synonym: "abnormal osteophage formation" EXACT [] is_a: MP:0002113 ! abnormal skeleton development is_a: MP:0004982 ! abnormal osteoclast morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0008397 name: abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology def: "any structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149] synonym: "abnormal CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte morphology" EXACT [] synonym: "abnormal CD4-positive, CD25-positive, alpha-beta regulatory T-cell morphology" EXACT [] synonym: "abnormal CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte morphology" EXACT [] synonym: "abnormal CD4-positive, CD25-positive, alpha-beta Treg morphology" EXACT [] synonym: "abnormal suppressor T cell morphology" BROAD [] synonym: "abnormal suppressor T lymphocyte morphology" BROAD [] synonym: "abnormal suppressor T-cell morphology" BROAD [] synonym: "abnormal suppressor T-lymphocyte morphology" BROAD [] xref: CL:0000792 is_a: MP:0002432 ! abnormal CD4-positive T cell morphology is_a: MP:0004941 ! abnormal regulatory T cell morphology [Term] id: MP:0008398 name: abnormal CD8-positive, alpha-beta regulatory T cell morphology def: "any structural anomaly of a CD8-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149] synonym: "abnormal CD8-positive, alpha-beta regulatory T lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta regulatory T-cell morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta regulatory T-lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta Treg morphology" EXACT [] synonym: "abnormal suppressor T cell morphology" BROAD [] synonym: "abnormal suppressor T lymphocyte morphology" BROAD [] synonym: "abnormal suppressor T-cell morphology" BROAD [] synonym: "abnormal suppressor T-lymphocyte morphology" BROAD [] xref: CL:0000795 is_a: MP:0004941 ! abnormal regulatory T cell morphology is_a: MP:0005010 ! abnormal CD8-positive T cell morphology [Term] id: MP:0008399 name: abnormal alpha-beta intraepithelial T cell morphology def: "any structural anomaly of a alpha-beta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [ISBN:0781735149] synonym: "abnormal alpha-beta intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal alpha-beta intraepithelial T-cell morphology" EXACT [] synonym: "abnormal alpha-beta intraepithelial T-lymphocyte morphology" EXACT [] synonym: "abnormal IEL morphology" BROAD [] synonym: "abnormal intraepithelial lymphocyte morphology" BROAD [] xref: CL:0000797 is_a: MP:0002435 ! abnormal effector T cell morphology is_a: MP:0008894 ! abnormal intraepithelial T cell morphology [Term] id: MP:0008400 name: abnormal CD4-positive, alpha-beta intraepithelial T cell morphology def: "any structural anomaly of a CD4-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [ISBN:0781735149] synonym: "abnormal CD4-positive, alpha-beta intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal CD4-positive, alpha-beta intraepithelial T-cell morphology" EXACT [] synonym: "abnormal CD4-positive, alpha-beta intraepithelial T-lymphocyte morphology" EXACT [] synonym: "abnormal IEL morphology" BROAD [] synonym: "abnormal intraepithelial lymphocyte morphology" BROAD [] xref: CL:0000793 is_a: MP:0002432 ! abnormal CD4-positive T cell morphology is_a: MP:0008399 ! abnormal alpha-beta intraepithelial T cell morphology [Term] id: MP:0008401 name: abnormal CD8 positive, alpha-beta intraepithelial T cell morphology def: "any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [ISBN:0781735149] synonym: "abnormal CD8-positive, alpha-beta intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta intraepithelial T-cell morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta intraepithelial T-lymphocyte morphology" EXACT [] synonym: "abnormal IEL morphology" BROAD [] xref: CL:0000796 is_a: MP:0005010 ! abnormal CD8-positive T cell morphology is_a: MP:0008399 ! abnormal alpha-beta intraepithelial T cell morphology [Term] id: MP:0008402 name: increased cellular sensitivity to alkylating agents def: "greater incidence of cell death following exposure to agents that cause DNA damage" [MGI:csmith] synonym: "decreased cellular resistance to alkylating agents" EXACT [] synonym: "increased cellular susceptibility to alkylating agents" EXACT [] is_a: MP:0008943 ! increased sensitivity to induced cell death [Term] id: MP:0008403 name: decreased cellular sensitivity to alkylating agents def: "reduced incidence of cell death following exposure to agents that cause DNA damage" [MGI:csmith] synonym: "decreased cellular susceptibility to alkylating agents" EXACT [] synonym: "increased cellular resistance to alkylating agents" EXACT [] synonym: "reduced cellular sensitivity to alkylating agents" EXACT [] is_a: MP:0008944 ! decreased sensitivity to induced cell death [Term] id: MP:0008404 name: increased cellular sensitivity to methylmethanesulfonate def: "greater incidence of cell death following exposure to methylmethanesulfonate" [MGI:csmith] synonym: "decreased cellular resistance to methylmethanesulfonate" EXACT [] synonym: "decreased cellular resistance to MMS" EXACT [] synonym: "increased cellular sensitivity to MMS" EXACT [] synonym: "increased cellular susceptibility to methylmethanesulfonate" EXACT [] synonym: "increased cellular susceptibility to MMS" EXACT [] is_a: MP:0008402 ! increased cellular sensitivity to alkylating agents [Term] id: MP:0008405 name: decreased cellular sensitivity to methylmethanesulfonate def: "reduced incidence of cell death following exposure to methylmethanesulfonate" [MGI:csmith] synonym: "decreased cellular sensitivity to MMS" EXACT [] synonym: "decreased cellular susceptibility to methylmethanesulfonate" EXACT [] synonym: "decreased cellular susceptibility to MMS" EXACT [] synonym: "increased cellular resistance to methylmethanesulfonate" EXACT [] synonym: "increased cellular resistance to MMS" EXACT [] synonym: "reduced cellular sensitivity to methylmethanesulfonate" EXACT [] synonym: "reduced cellular sensitivity to MMS" EXACT [] is_a: MP:0008403 ! decreased cellular sensitivity to alkylating agents [Term] id: MP:0008406 name: increased cellular sensitivity to hydrogen peroxide def: "greater incidence of cell death following exposure to hydrogen peroxide" [MGI:csmith] synonym: "decreased cellular resistance to H2O2" EXACT [] synonym: "decreased cellular resistance to hydrogen peroxide" EXACT [] synonym: "increased cellular sensitivity to H2O2" EXACT [] synonym: "increased cellular susceptibility to H2O2" EXACT [] synonym: "increased cellular susceptibility to hydrogen peroxide" EXACT [] is_a: MP:0008412 ! increased cellular sensitivity to oxidative stress [Term] id: MP:0008407 name: decreased cellular sensitivity to hydrogen peroxide def: "reduced incidence of cell death following exposure to hydrogen peroxide" [MGI:csmith] synonym: "decreased cellular sensitivity to H2O2" EXACT [] synonym: "decreased cellular susceptibility to H2O2" EXACT [] synonym: "increased cellular resistance to H2O2" EXACT [] synonym: "reduced cellular sensitivity to H2O2" EXACT [] synonym: "reduced cellular sensitivity to hydrogen peroxide" EXACT [] is_a: MP:0008413 ! decreased cellular sensitivity to oxidative stress [Term] id: MP:0008408 name: decreased cellular sensitivity to hydroxyurea def: "reduced incidence of cell death following exposure to hydroxyurea" [MGI:csmith] synonym: "decreased cellular susceptibility to hydroxyurea" EXACT [] synonym: "increased cellular resistance to hydroxyurea" EXACT [] synonym: "reduced cellular sensitivity to hydroxyurea" EXACT [] is_a: MP:0008403 ! decreased cellular sensitivity to alkylating agents [Term] id: MP:0008409 name: increased cellular sensitivity to hydroxyurea def: "greater incidence of cell death following exposure to hydroxyurea" [MGI:csmith] synonym: "decreased cellular resistance to hydroxyurea" EXACT [] synonym: "increased cellular susceptibility to hydroxyurea" EXACT [] is_a: MP:0008402 ! increased cellular sensitivity to alkylating agents [Term] id: MP:0008410 name: increased cellular sensitivity to ultraviolet irradiation def: "greater incidence of cell death following exposure to ultraviolet irradiation" [MGI:csmith] synonym: "decreased cellular resistance to ultraviolet irradiation" EXACT [] synonym: "increased cellular susceptibility to ultraviolet irradiation" EXACT [] is_a: MP:0008943 ! increased sensitivity to induced cell death [Term] id: MP:0008411 name: decreased cellular sensitivity to ultraviolet irradiation def: "reduced incidence of cell death following exposure to ultraviolet irradiation" [MGI:csmith] synonym: "decreased cellular susceptibility to ultraviolet irradiation" EXACT [] synonym: "increased cellular resistance to ultraviolet irradiation" EXACT [] synonym: "reduced cellular sensitivity to ultraviolet irradiation" EXACT [] is_a: MP:0008944 ! decreased sensitivity to induced cell death [Term] id: MP:0008412 name: increased cellular sensitivity to oxidative stress def: "greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis" [MGI:csmith] synonym: "decreased cellular resistance to oxidative stress" EXACT [] synonym: "increased cellular susceptibility to oxidative stress" EXACT [] is_a: MP:0008943 ! increased sensitivity to induced cell death [Term] id: MP:0008413 name: decreased cellular sensitivity to oxidative stress def: "reduced incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis" [MGI:csmith] synonym: "decreased cellular susceptibility to oxidative stress" EXACT [] synonym: "increased cellular resistance to oxidative stress" EXACT [] synonym: "reduced cellular sensitivity to oxidative stress" EXACT [] is_a: MP:0008944 ! decreased sensitivity to induced cell death [Term] id: MP:0008414 name: abnormal spatial reference memory def: "anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to navigate or perform other behavior using such location cues" [MGI:csmith] synonym: "abnormal SRM" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0008415 name: abnormal neurite morphology def: "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0008416 name: increased somatotroph cell size def: "excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [MESH:A06.407.747.608.937, MGI:csmith] synonym: "somatotroph hypertrophy" EXACT [] is_a: MP:0008322 ! abnormal somatotroph morphology [Term] id: MP:0008417 name: decreased somatotroph cell size def: "reduced growth or small size of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [MESH:A06.407.747.608.937, MGI:csmith] synonym: "reduced somatotroph cell size" EXACT [] synonym: "somatotroph hypotrophy" EXACT [] is_a: MP:0008322 ! abnormal somatotroph morphology [Term] id: MP:0008418 name: abnormal cutaneous elastic fiber morphology def: "any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity" [MGI:csmith] synonym: "abnormal dermal elastic fiber morphology" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0008419 name: abnormal cutaneous microfibril morphology def: "any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin" [MGI:csmith] is_a: MP:0008418 ! abnormal cutaneous elastic fiber morphology [Term] id: MP:0008420 name: increased thyrotroph cell size def: "excessive growth or enlargement of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968] is_a: MP:0008326 ! abnormal thyrotroph morphology [Term] id: MP:0008421 name: decreased thyrotroph cell size def: "reduced growth or small size of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968, MGI:csmith] synonym: "reduced thyrotroph cell size" EXACT [] is_a: MP:0008326 ! abnormal thyrotroph morphology [Term] id: MP:0008422 name: increased lactotroph cell size def: "excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces prolactin" [MESH:A06.407.747.608.812] is_a: MP:0008323 ! abnormal lactotroph morphology [Term] id: MP:0008423 name: decreased lactotroph cell size def: "reduced growth or small size of an acidophilic cell of the anterior pituitary that produces prolactin" [MESH:A06.407.747.608.812, MGI:csmith] synonym: "reduced lactotroph cell size" EXACT [] is_a: MP:0008323 ! abnormal lactotroph morphology [Term] id: MP:0008424 name: increased gonadotroph cell size def: "excessive growth or enlargement of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750] is_a: MP:0008325 ! abnormal gonadotroph morphology [Term] id: MP:0008425 name: decreased gonadotroph cell size def: "reduced growth or small size of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750, MGI:csmith] synonym: "reduced gonadotroph cell size" EXACT [] is_a: MP:0008325 ! abnormal gonadotroph morphology [Term] id: MP:0008426 name: increased corticotroph cell size def: "excessive growth or enlargement of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)" [MESH:A06.407.747.608.500, MGI:csmith] is_a: MP:0008327 ! abnormal corticotroph morphology [Term] id: MP:0008427 name: decreased corticotroph cell size def: "reduced growth or small size of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)" [MESH:A06.407.747.608.500, MGI:csmith] synonym: "reduced corticotroph cell size" EXACT [] is_a: MP:0008327 ! abnormal corticotroph morphology [Term] id: MP:0008428 name: abnormal spatial working memory def: "anomaly in the ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location" [MGI:csmith] synonym: "abnormal SWM" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory [Term] id: MP:0008429 name: absent parotid gland def: "absence of the largest of the major salivary glands situated below and in front of each ear" [MGI:anna] synonym: "absent external salivary gland morphology" EXACT [] synonym: "absent glandula parotidea morphology" EXACT [] synonym: "absent glandula parotis morphology" EXACT [] is_a: MP:0003452 ! abnormal parotid gland morphology [Term] id: MP:0008430 name: short squamosal bone def: "length reduction of the thin, platelike part of the temporal bone" [MGI:anna] is_a: MP:0004423 ! abnormal squamosal bone morphology [Term] id: MP:0008431 name: abnormal short term spatial reference memory def: "anomaly in the short-term memory for spatial location information that is established during the first few minutes after training or an encounter at that location" [MGI:csmith] synonym: "abnormal short-term spatial reference memory" EXACT [] synonym: "abnormal short-term SRM" EXACT [] is_a: MP:0008414 ! abnormal spatial reference memory [Term] id: MP:0008432 name: abnormal long term spatial reference memory def: "anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location" [MGI:csmith] synonym: "abnormal long-term spatial reference memory" RELATED [] synonym: "abnormal long-term SRM" EXACT [] is_a: MP:0008414 ! abnormal spatial reference memory [Term] id: MP:0008433 name: abnormal somatotroph cell nucleus def: "any structural anomaly of a somatotroph cell nucleus" [MGI:llw2] is_a: MP:0008322 ! abnormal somatotroph morphology [Term] id: MP:0008434 name: small somatotroph cell nucleus def: "decreased size of a somatotroph cell nucleus" [MGI:llw2] is_a: MP:0008433 ! abnormal somatotroph cell nucleus [Term] id: MP:0008435 name: large somatotroph cell nucleus def: "increased size of a somatotroph cell nucleus" [MGI:llw2] is_a: MP:0008433 ! abnormal somatotroph cell nucleus [Term] id: MP:0008436 name: decreased somatotroph secretory granule number def: "decreased number of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface" [MGI:llw2] synonym: "decreased somatotroph secretory vesicle number" EXACT [] synonym: "reduced somatotroph secretory granule number" EXACT [] is_a: MP:0008322 ! abnormal somatotroph morphology [Term] id: MP:0008437 name: absent somatotroph secretory granules def: "absence of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface" [MGI:llw2] is_a: MP:0008436 ! decreased somatotroph secretory granule number [Term] id: MP:0008438 name: abnormal cutaneous collagen fibril morphology def: "any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity" [MGI:csmith] synonym: "abnormal dermal collagen fiber morphology" EXACT [] synonym: "abnormal dermal collagen fibril morphology" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0008439 name: abnormal cortical plate morphology def: "any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers" [MGI:csmith, PMID:1812236] synonym: "abnormal CP morphology" EXACT [] synonym: "abnormal immature cerebral cortex morphology" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0008440 name: abnormal subplate morphology def: "any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate" [MGI:csmith, PMID:8210173] synonym: "abnormal SP morphology" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0008441 name: thin cortical plate def: "reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers" [MGI:csmith, PMID:1812236] is_a: MP:0008439 ! abnormal cortical plate morphology [Term] id: MP:0008442 name: disorganized cortical plate def: "derangement of the patterned arrangement of the cortical plate" [MGI:csmith] is_a: MP:0008439 ! abnormal cortical plate morphology [Term] id: MP:0008443 name: absent subplate def: "absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate" [MGI:csmith, PMID:8210173] is_a: MP:0008440 ! abnormal subplate morphology [Term] id: MP:0008444 name: retinal cone cell degeneration def: "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith] is_a: MP:0001006 ! abnormal retinal cone cell morphology is_a: MP:0008450 ! retinal photoreceptor degeneration [Term] id: MP:0008445 name: increased retinal cone cell number def: "greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100] synonym: "increased number of retinal cone cells" EXACT [] is_a: MP:0001006 ! abnormal retinal cone cell morphology is_a: MP:0006070 ! increased retinal photoreceptor cell number [Term] id: MP:0008446 name: decreased retinal cone cell number def: "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith] synonym: "decreased number of retinal cone cells" EXACT [] synonym: "reduced retinal cone cell number" EXACT [] is_a: MP:0001006 ! abnormal retinal cone cell morphology is_a: MP:0001327 ! decreased retinal photoreceptor cell number [Term] id: MP:0008447 name: absent retinal cone cells def: "absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100] is_a: MP:0008446 ! decreased retinal cone cell number [Term] id: MP:0008448 name: abnormal retinal cone cell inner segment morphology def: "any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith] is_a: MP:0001006 ! abnormal retinal cone cell morphology is_a: MP:0003730 ! abnormal photoreceptor inner segment morphology [Term] id: MP:0008449 name: abnormal retinal cone cell outer segment morphology def: "any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane" [MGI:csmith] synonym: "abnormal COS morphology" EXACT [] is_a: MP:0001006 ! abnormal retinal cone cell morphology is_a: MP:0003729 ! abnormal photoreceptor outer segment morphology [Term] id: MP:0008450 name: retinal photoreceptor degeneration def: "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith] is_a: MP:0001004 ! abnormal retinal photoreceptor morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0008451 name: retinal rod cell degeneration def: "a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650] is_a: MP:0001005 ! abnormal retinal rod cell morphology is_a: MP:0008450 ! retinal photoreceptor degeneration [Term] id: MP:0008452 name: increased retinal rod cell number def: "greater number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650] synonym: "increased number of retinal rod cells" EXACT [] is_a: MP:0001005 ! abnormal retinal rod cell morphology is_a: MP:0006070 ! increased retinal photoreceptor cell number [Term] id: MP:0008453 name: decreased retinal rod cell number def: "reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650] synonym: "decreased number of retinal rod cells" EXACT [] synonym: "reduced retinal rod cell number" EXACT [] is_a: MP:0001005 ! abnormal retinal rod cell morphology is_a: MP:0001327 ! decreased retinal photoreceptor cell number [Term] id: MP:0008454 name: absent retinal rod cells def: "absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650] is_a: MP:0008453 ! decreased retinal rod cell number [Term] id: MP:0008455 name: abnormal retinal rod cell inner segment morphology def: "any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith] is_a: MP:0001005 ! abnormal retinal rod cell morphology is_a: MP:0003730 ! abnormal photoreceptor inner segment morphology [Term] id: MP:0008456 name: abnormal retinal rod cell outer segment morphology def: "any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith] synonym: "abnormal ROS morphology" EXACT [] is_a: MP:0001005 ! abnormal retinal rod cell morphology is_a: MP:0003729 ! abnormal photoreceptor outer segment morphology [Term] id: MP:0008457 name: abnormal cortical intermediate zone morphology def: "any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone" [PMID:10632599] synonym: "abnormal IZ morphology" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0008458 name: abnormal cortical ventricular zone morphology def: "any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons" [MGI:csmith] synonym: "abnormal VZ morphology" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0008459 name: abnormal circulating pancreatic peptide level def: "anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite" [ISBN:0-683-40008-8, MESH:D06.472.699.587.700] synonym: "abnormal circulating pancreatic polypeptide hormone level" EXACT [] synonym: "abnormal circulating pancreatic polypeptide level" EXACT [] synonym: "abnormal circulating pancreatic prohormone level" EXACT [] synonym: "abnormal circulating PP level" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0008460 name: absent dorsal root ganglion def: "absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340, MGI:csmith] synonym: "absent dorsal root ganglia" EXACT [] synonym: "absent DRGs" EXACT [] synonym: "absent spinal ganglia" RELATED [] synonym: "absent spinal ganglion" RELATED [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0008461 name: left atrial isomerism def: "anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body" [MGI:smb] subset: CvDC_Terms is_a: MP:0000542 ! left-sided isomerism is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0006065 ! abnormal heart position or orientation [Term] id: MP:0008462 name: abnormal medium spiny neuron morphology def: "any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus" [PMID:15504319] synonym: "abnormal MSN morphology" EXACT [] synonym: "abnormal striatal neuron morphology" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology is_a: MP:0004077 ! abnormal striatum morphology [Term] id: MP:0008463 name: abnormal peripheral lymph node morphology def: "any structural anomaly of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes" [MGI:csmith] synonym: "abnormal external lymph node morphology" EXACT [] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0008464 name: absent peripheral lymph nodes def: "absence of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes" [MGI:csmith] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0008465 name: absent mesenteric lymph nodes def: "absence of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group" [ISBN:0-683-40008-8] is_a: MP:0005232 ! abnormal mesenteric lymph node morphology [Term] id: MP:0008466 name: enlarged mesenteric lymph nodes def: "increased size of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group" [ISBN:0-683-40008-8] synonym: "mesenteric lymphoadenopathy" RELATED [] is_a: MP:0005232 ! abnormal mesenteric lymph node morphology [Term] id: MP:0008467 name: absent proprioceptive neurons def: "absence of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord" [MGI:csmith] is_a: MP:0004297 ! abnormal proprioceptive neuron morphology [Term] id: MP:0008468 name: absent muscle spindles def: "absence of the sensory organs in muscle that are involved in the stretch reflex" [ISBN:0838580343, MGI:csmith] synonym: "absent Kuhne spindle" EXACT [] synonym: "absent neuromuscular spindle" EXACT [] is_a: MP:0008486 ! decreased muscle spindle number [Term] id: MP:0008469 name: abnormal protein level def: "anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [MGI:csmith] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0008470 name: abnormal spleen B cell follicle morphology def: "any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur" [PMID:17495967] synonym: "abnormal spleen B lymphocyte follicle morphology" EXACT [] synonym: "abnormal splenic B cell follicle morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0008471 name: abnormal spleen primary B follicle morphology def: "any structural anomaly of the nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp" [PMID:17495967] synonym: "abnormal splenic primary B cell morphology" EXACT [] is_a: MP:0008470 ! abnormal spleen B cell follicle morphology [Term] id: MP:0008472 name: abnormal spleen secondary B follicle morphology def: "any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp" [PMID:17495967] synonym: "abnormal splenic secondary B cell follicle morphology" EXACT [] is_a: MP:0008470 ! abnormal spleen B cell follicle morphology [Term] id: MP:0008473 name: abnormal spleen follicular dendritic cell network def: "any structural anomaly of the enmeshed group of antigen presenting cells with extensive dendritic processes in the spleen B cell follicle that present antigen to B cells during an immune response" [MGI:csmith] comment: The follicular dendritic cell network is often visualized by using the monoclonal antibody FDC-M2. synonym: "abnormal FDC network" BROAD [] synonym: "abnormal FDCN" BROAD [] synonym: "abnormal spleen FDC network" EXACT [] synonym: "abnormal splenic follicular dendritic cell network" EXACT [] is_a: MP:0008470 ! abnormal spleen B cell follicle morphology [Term] id: MP:0008474 name: absent spleen germinal center def: "absence of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "absent spleen follicle center" EXACT [] synonym: "absent spleen follicle centre" EXACT [] synonym: "absent spleen GC" EXACT [] synonym: "absent splenic germinal center" EXACT [] is_a: MP:0002359 ! abnormal spleen germinal center morphology [Term] id: MP:0008475 name: intermingled spleen red and white pulp def: "no clear demarcation of the spleen red and white pulp tissue" [MGI:csmith] synonym: "intermingled splenic red and white pulp" EXACT [] is_a: MP:0002356 ! abnormal spleen red pulp morphology is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0008476 name: increased spleen red pulp amount def: "increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith] synonym: "increased splenic red pulp" EXACT [] is_a: MP:0002356 ! abnormal spleen red pulp morphology [Term] id: MP:0008477 name: decreased spleen red pulp amount def: "reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith] synonym: "decreased splenic red pulp" EXACT [] synonym: "reduced spleen red pulp amount" EXACT [] is_a: MP:0002356 ! abnormal spleen red pulp morphology [Term] id: MP:0008478 name: increased spleen white pulp amount def: "increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith] synonym: "increased splenic white pulp amount" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0008479 name: decreased spleen white pulp amount def: "reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith] synonym: "decreased splenic white pulp amount" EXACT [] synonym: "reduced spleen white pulp amount" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0008480 name: absent eye pigmentation def: "absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis" [MGI:csmith] synonym: "albino eye" EXACT [] is_a: MP:0001324 ! abnormal eye pigmentation [Term] id: MP:0008481 name: increased spleen germinal center number def: "greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "increased spleen follicle center number" EXACT [] synonym: "increased spleen follicle centre number" EXACT [] synonym: "increased spleen GC number" EXACT [] synonym: "increased splenic germinal center number" EXACT [] is_a: MP:0002359 ! abnormal spleen germinal center morphology [Term] id: MP:0008482 name: decreased spleen germinal center number def: "reduced number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "decreased spleen follicle center number" EXACT [] synonym: "decreased spleen follicle centre number" EXACT [] synonym: "decreased spleen GC number" EXACT [] synonym: "decreased splenic germinal center number" EXACT [] synonym: "reduced spleen follicle center number" EXACT [] synonym: "reduced spleen follicle centre number" EXACT [] synonym: "reduced spleen GC number" EXACT [] synonym: "reduced spleen germinal center number" EXACT [] is_a: MP:0002359 ! abnormal spleen germinal center morphology [Term] id: MP:0008483 name: increased spleen germinal center size def: "greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "increased spleen follicle center size" EXACT [] synonym: "increased spleen follicle centre size" EXACT [] synonym: "increased spleen GC size" EXACT [] synonym: "increased splenic germinal center size" EXACT [] is_a: MP:0002359 ! abnormal spleen germinal center morphology [Term] id: MP:0008484 name: decreased spleen germinal center size def: "reduced size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "decreased spleen follicle center size" EXACT [] synonym: "decreased spleen follicle centre size" EXACT [] synonym: "decreased spleen GC size" EXACT [] synonym: "decreased splenic germinal center size" EXACT [] synonym: "reduced spleen follicle center size" EXACT [] synonym: "reduced spleen follicle centre size" EXACT [] synonym: "reduced spleen GC size" EXACT [] synonym: "reduced spleen germinal center size" EXACT [] is_a: MP:0002359 ! abnormal spleen germinal center morphology [Term] id: MP:0008485 name: increased muscle spindle number def: "greater number of the sensory organs in muscle that are involved in the stretch reflex" [ISBN:0838580343] synonym: "increased Kuhne spindle number" EXACT [] synonym: "increased neuromuscular spindle number" EXACT [] is_a: MP:0004069 ! abnormal muscle spindle morphology [Term] id: MP:0008486 name: decreased muscle spindle number def: "reduced number of the sensory organs in muscle that are involved in the stretch reflex" [ISBN:0838580343] synonym: "decreased Kuhne spindle number" EXACT [] synonym: "decreased neuromuscular spindle number" EXACT [] synonym: "reduced Kuhne spindle number" EXACT [] synonym: "reduced muscle spindle number" EXACT [] is_a: MP:0004069 ! abnormal muscle spindle morphology [Term] id: MP:0008487 name: abnormal mesonephros morphology def: "any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop" [MESH:A16.254.500] comment: The mesonephros is the permanent kidney in fish and amphibians, but atrophies in reptiles, birds, and mammals. synonym: "abnormal mesonephric tubules" NARROW [] synonym: "abnormal middle kidney" EXACT [] synonym: "abnormal primitive kidney" EXACT [] synonym: "abnormal Wolffian body morphology" EXACT [] synonym: "abnormal Wolffian tubules" NARROW [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0008488 name: abnormal semicircular canal ampulla morphology def: "any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals" [ISBN:0-683-40008-8] synonym: "abnormal membranous ampullae of the semicircular ducts" EXACT [] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0008489 name: slow postnatal weight gain def: "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith] synonym: "postnatal slow weight gain" EXACT [] synonym: "reduced body weight gain" EXACT [] is_a: MP:0001262 ! decreased body weight is_a: MP:0001732 ! postnatal growth retardation [Term] id: MP:0008490 name: enlarged dorsal root ganglion def: "increased size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340] synonym: "enlarged dorsal root ganglia" EXACT [] synonym: "enlarged DRG" EXACT [] synonym: "enlarged spinal ganglion" RELATED [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0008491 name: dorsal root ganglion hyperplasia def: "overdevelopment or increased size, usually due to a increased cell number, of a dorsal root ganglion or ganglia" [MESH:A08.340.390.340] synonym: "dorsal root ganglia hyperplasia" EXACT [] synonym: "DRG hyperplasia" EXACT [] synonym: "hyperplastic dorsal root ganglion" EXACT [] synonym: "spinal ganglion hyperplasia" EXACT [] is_a: MP:0008490 ! enlarged dorsal root ganglion [Term] id: MP:0008492 name: dorsal root ganglion degeneration def: "retrogressive pathological change of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0008493 name: alpha-synuclein inclusion body def: "formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease" [MGI:csmith] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0008494 name: absence of all nails def: "absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [MGI:smb] subset: Sanger_Terms is_a: MP:0000579 ! abnormal nail morphology [Term] id: MP:0008495 name: decreased IgG1 level def: "less than normal immunoglobulin class G1 level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased serum level of immunoglobulin G1" NARROW [] synonym: "reduced IgG1 level" EXACT [] is_a: MP:0001805 ! decreased IgG level [Term] id: MP:0008496 name: decreased IgG2a level def: "less than normal immunoglobulin class G2a level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased serum level of immunoglobulin G2a" NARROW [] synonym: "reduced IgG2a level" EXACT [] is_a: MP:0001805 ! decreased IgG level [Term] id: MP:0008497 name: decreased IgG2b level def: "less than normal immunoglobulin class G2b level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased serum level of immunoglobulin G2b" NARROW [] synonym: "reduced IgG2b level" EXACT [] is_a: MP:0001805 ! decreased IgG level [Term] id: MP:0008498 name: decreased IgG3 level def: "less than normal immunoglobulin class G3 level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased serum level of immunoglobulin G3" NARROW [] synonym: "reduced IgG3 level" EXACT [] is_a: MP:0001805 ! decreased IgG level [Term] id: MP:0008499 name: increased IgG1 level def: "greater than normal immunoglobulin class G1 level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased serum level of immunoglobulin G1" NARROW [] is_a: MP:0002493 ! increased IgG level [Term] id: MP:0008500 name: increased IgG2a level def: "greater than normal immunoglobulin class G2a level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased serum level of immunoglobulin G2a" NARROW [] is_a: MP:0002493 ! increased IgG level [Term] id: MP:0008501 name: increased IgG2b level def: "greater than normal immunoglobulin class G2b level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased serum level of immunoglobulin G2b" NARROW [] is_a: MP:0002493 ! increased IgG level [Term] id: MP:0008502 name: increased IgG3 level def: "greater than normal immunoglobulin class G3 level" [MGI:tmeehan] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased serum level of immunoglobulin G3" NARROW [] is_a: MP:0002493 ! increased IgG level [Term] id: MP:0008503 name: abnormal spinal cord grey matter morphology def: "any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue" [ISBN:0-683-40008-8, MGI:llw2] synonym: "abnormal spinal cord gray columns morphology" EXACT [] synonym: "abnormal spinal cord gray matter morphology" EXACT [] synonym: "abnormal spinal cord grey columns morphology" EXACT [] synonym: "abnormal spinal cord mantle layer morphology" RELATED [] xref: MA:0000002 is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0008504 name: abnormal adrenal chromaffin cell morphology def: "any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion" [MGI:csmith] synonym: "abnormal phaeochromocyte" EXACT [] is_a: MP:0008289 ! abnormal adrenal medulla morphology is_a: MP:0010913 ! abnormal neuroendocrine cell morphology [Term] id: MP:0008505 name: absent adrenal chromaffin cells def: "absence of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion" [MGI:csmith] synonym: "absent phaeochromocyte" EXACT [] is_a: MP:0008504 ! abnormal adrenal chromaffin cell morphology [Term] id: MP:0008506 name: abnormal noradrenergic chromaffin cell morphology def: "any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for norepinephrine secretion" [MGI:csmith] is_a: MP:0008504 ! abnormal adrenal chromaffin cell morphology [Term] id: MP:0008507 name: thin retinal ganglion layer def: "reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [MGI:csmith] is_a: MP:0005241 ! abnormal retinal ganglion layer morphology [Term] id: MP:0008508 name: thick retinal ganglion layer def: "increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [MGI:csmith] is_a: MP:0005241 ! abnormal retinal ganglion layer morphology [Term] id: MP:0008509 name: disorganized retinal ganglion layer def: "derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [MGI:csmith] is_a: MP:0005241 ! abnormal retinal ganglion layer morphology [Term] id: MP:0008510 name: absent retinal ganglion layer def: "absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [MGI:csmith] is_a: MP:0005241 ! abnormal retinal ganglion layer morphology [Term] id: MP:0008511 name: thin retinal inner nuclear layer def: "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat] is_a: MP:0003733 ! abnormal retinal inner nuclear layer morphology [Term] id: MP:0008512 name: disorganized retinal inner nuclear layer def: "derangement of the normal pattern of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat] is_a: MP:0003733 ! abnormal retinal inner nuclear layer morphology [Term] id: MP:0008513 name: thin retinal inner plexiform layer def: "reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat] is_a: MP:0003734 ! abnormal retinal inner plexiform layer morphology [Term] id: MP:0008514 name: absent retinal inner plexiform layer def: "absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat] is_a: MP:0003734 ! abnormal retinal inner plexiform layer morphology [Term] id: MP:0008515 name: thin retinal outer nuclear layer def: "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat] is_a: MP:0003731 ! abnormal retinal outer nuclear layer morphology [Term] id: MP:0008516 name: disorganized retinal outer nuclear layer def: "derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat] is_a: MP:0003731 ! abnormal retinal outer nuclear layer morphology [Term] id: MP:0008517 name: thick retinal outer nuclear layer def: "increased thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat] is_a: MP:0003731 ! abnormal retinal outer nuclear layer morphology [Term] id: MP:0008518 name: retinal outer nuclear layer degeneration def: "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat] is_a: MP:0003731 ! abnormal retinal outer nuclear layer morphology [Term] id: MP:0008519 name: thin retinal outer plexiform layer def: "reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat] is_a: MP:0003732 ! abnormal retinal outer plexiform layer morphology [Term] id: MP:0008520 name: disorganized retinal outer plexiform layer def: "a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat] is_a: MP:0003732 ! abnormal retinal outer plexiform layer morphology [Term] id: MP:0008521 name: abnormal Bowman membrane def: "any structural anomaly of the layer of acellular matrix that lies beneath the corneal epithelium and above the corneal stroma, consists of randomly arranged collagen fibers in a condensed bed of intercellular substance, and provides stability and strength to the cornea" [MESH:A09.371.060.217.113] synonym: "abnormal Bowman's membrane" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0008522 name: abnormal lymph node germinal center morphology def: "any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells" [PMID:11905817] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). is_a: MP:0002346 ! abnormal lymph node secondary follicle morphology [Term] id: MP:0008523 name: absent lymph node germinal center def: "absence of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells" [PMID:11905817] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). is_a: MP:0008522 ! abnormal lymph node germinal center morphology [Term] id: MP:0008524 name: increased plasmacytoid dendritic cell number def: "greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli" [MGI:csmith, PMID:15596797] synonym: "increased DC2 cell number" EXACT [] synonym: "increased lymphoid dendritic cell number" EXACT [] synonym: "increased PDC cell number" EXACT [] synonym: "increased pDC cell number" EXACT [] synonym: "increased plasmacytoid monocytes cell number" EXACT [] synonym: "increased plasmacytoid T cell number" EXACT [] synonym: "increased T-associated plasma cells cell number" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0008123 ! abnormal plasmacytoid dendritic cell number [Term] id: MP:0008525 name: decreased cranium height alt_id: MP:0000442 def: "decrease in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull" [MGI:csmith] synonym: "decreased skull height" RELATED [] synonym: "longitudinally short skull" RELATED [] synonym: "reduced cranium height" EXACT [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0008526 name: decreased cranium width def: "having a decreased side-to-side, or lateral distance of the cranium" [MGI:csmith] synonym: "decreased skull width" RELATED [] synonym: "reduced cranium width" EXACT [] synonym: "reduced skull width" RELATED [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0008527 name: embryonic lethality at implantation def: "death due to failure of implantation (Mus: E4.5)" [MGI:llw2] is_a: MP:0008762 ! embryonic lethality [Term] id: MP:0008528 name: polycystic kidney alt_id: Fyler:4508 def: "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2] subset: CvDC_Terms subset: Sanger_Terms synonym: "Polycystic kidney disease" BROAD [] is_a: MP:0003675 ! kidney cysts [Term] id: MP:0008529 name: enlarged optic nerve def: "increased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies" [MGI:csmith] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0008530 name: abnormal rostral-caudal patterning of the somites def: "anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body" [MGI:csmith] is_a: MP:0001688 ! abnormal somite development is_a: MP:0005221 ! abnormal rostral-caudal axis patterning [Term] id: MP:0008531 name: increased chemical nociceptive threshold def: "a greater than average concentration at which chemically induced pain sensation is first detectable" [MGI:csmith] synonym: "chemical hypoalgesia" EXACT [] is_a: MP:0002735 ! abnormal chemical nociception is_a: MP:0003043 ! hypoalgesia [Term] id: MP:0008532 name: decreased chemical nociceptive threshold def: "a lower than average concentration at which chemically induced pain sensation is first detectable" [MGI:csmith] synonym: "chemical hyperalgesia" RELATED [] synonym: "reduced chemical nociceptive threshold" EXACT [] is_a: MP:0002735 ! abnormal chemical nociception is_a: MP:0005407 ! hyperalgesia [Term] id: MP:0008533 name: abnormal anterior visceral endoderm morphology def: "any structural anomaly of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue" [PMID:17078044] synonym: "abnormal AVE" EXACT [] is_a: MP:0001724 ! abnormal extraembryonic endoderm formation [Term] id: MP:0008534 name: enlarged fourth ventricle def: "increased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [MESH:A08.186.211.276.500, MGI:csmith] is_a: MP:0000828 ! abnormal fourth ventricle morphology is_a: MP:0011380 ! enlarged brain ventricle [Term] id: MP:0008535 name: enlarged lateral ventricles def: "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith] subset: Sanger_Terms is_a: MP:0000823 ! abnormal lateral ventricle morphology is_a: MP:0011380 ! enlarged brain ventricle [Term] id: MP:0008536 name: enlarged third ventricle def: "increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:csmith] subset: Sanger_Terms is_a: MP:0000826 ! abnormal third ventricle morphology is_a: MP:0011380 ! enlarged brain ventricle [Term] id: MP:0008537 name: increased susceptibility to induced colitis def: "increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)" [MGI:csmith] synonym: "decreased resistance to induced colitis" EXACT [] is_a: MP:0002816 ! colitis [Term] id: MP:0008538 name: decreased zigzag hair amount def: "reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla" [ISBN:0-8493-8372-2, MGI:llw2] synonym: "decreased amount of zigzag hair" EXACT [] synonym: "reduced amount of zigzag hair" EXACT [] is_a: MP:0000402 ! abnormal zigzag hair morphology [Term] id: MP:0008539 name: decreased susceptibility to induced colitis def: "decreased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)" [MGI:csmith] synonym: "increased resistance to induced colitis" EXACT [] synonym: "reduced susceptibility to induced colitis" EXACT [] is_a: MP:0002816 ! colitis [Term] id: MP:0008540 name: abnormal cerebrum morphology def: "any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities" [MESH:A08.186.211.730.885.287] synonym: "abnormal cerebral hemispheres" EXACT [] synonym: "cerebrum dysplasia" RELATED [] is_a: MP:0000787 ! abnormal telencephalon morphology [Term] id: MP:0008541 name: leukostasis def: "abnormal intravascular leukocyte aggregation and clumping most commonly seen in the brain and lungs of organisms with leukemia, often with an excess of leukocytes in the blood" [MESH:C15.378.553.560] is_a: MP:0002442 ! abnormal leukocyte physiology [Term] id: MP:0008542 name: enlarged cervical lymph nodes def: "increased size of the lymph nodes found near the neck and shoulders" [MGI:csmith] synonym: "cervical lymphoadenopathy" RELATED [] is_a: MP:0002351 ! abnormal cervical lymph node morphology [Term] id: MP:0008543 name: atrial fibrillation def: "asynchronous contraction or quivering of individual cardiac muscle fibers in the atria" [MGI:csmith] is_a: MP:0006109 ! fibrillation [Term] id: MP:0008544 name: impaired olfaction def: "reduced ability to detect odors" [MGI:smb] synonym: "hyposmia" EXACT [] synonym: "partial anosmia" EXACT [] is_a: MP:0001984 ! abnormal olfaction [Term] id: MP:0008545 name: absent sperm flagellum def: "absence of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MESH:A05.360.490.890.840] synonym: "absent sperm flagella" EXACT [] synonym: "absent sperm tail" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0008546 name: abnormal vesicle-mediated transport def: "anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell" [GO:0016192] synonym: "abnormal vesicle trafficking" EXACT [] synonym: "abnormal vesicle transport" EXACT [] synonym: "abnormal vesicular trafficking" EXACT [] synonym: "abnormal vesicular transport" EXACT [] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0008547 name: abnormal neocortex morphology def: "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8, MESH:A08.186.211.730.885.213.420] synonym: "abnormal homotypic cortex morphology" EXACT [] synonym: "abnormal homotypical cortex morphology" EXACT [] synonym: "abnormal isocortex morphology" EXACT [] synonym: "abnormal neopallium morphology" EXACT [] synonym: "abnormal nonolfactory cortex morphology" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0008548 name: abnormal circulating interferon level def: "anomaly in the amount in the blood of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions" [MESH:D12.644.276.374.440] synonym: "abnormal circulating IFN level" EXACT [] is_a: MP:0008750 ! abnormal interferon level is_a: MP:0010210 ! abnormal circulating cytokine level [Term] id: MP:0008549 name: abnormal circulating interferon-alpha level def: "anomaly in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250] synonym: "abnormal circulating alpha-IFN level" EXACT [] synonym: "abnormal circulating alpha-Interferon level" EXACT [] synonym: "abnormal circulating IFN-alpha level" EXACT [] is_a: MP:0008548 ! abnormal circulating interferon level [Term] id: MP:0008550 name: abnormal circulating interferon-beta level def: "anomaly in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity" [MESH:D12.644.276.374.440.890.275] synonym: "abnormal circulating beta-IFN level" EXACT [] synonym: "abnormal circulating beta-interferon level" EXACT [] synonym: "abnormal circulating IFN-beta level" EXACT [] is_a: MP:0008548 ! abnormal circulating interferon level [Term] id: MP:0008551 name: abnormal circulating interferon-gamma level def: "anomaly in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893] synonym: "abnormal circulating gamma-IFN level" EXACT [] synonym: "abnormal circulating gamma-interferon level" EXACT [] synonym: "abnormal circulating IFN-gamma level" EXACT [] synonym: "abnormal circulating interferon type II level" EXACT [] is_a: MP:0008548 ! abnormal circulating interferon level [Term] id: MP:0008552 name: abnormal circulating tumor necrosis factor level def: "anomaly in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7, MESH:D12.644.276.374.500.800] synonym: "abnormal circulating cachectin level" EXACT [] synonym: "abnormal circulating TNF level" RELATED [] synonym: "abnormal circulating TNFA level" EXACT [] synonym: "abnormal circulating tumor necrosis factor alpha level" EXACT [] is_a: MP:0008752 ! abnormal tumor necrosis factor level is_a: MP:0010210 ! abnormal circulating cytokine level [Term] id: MP:0008553 name: increased circulating tumor necrosis factor level def: "greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7, MESH:D12.644.276.374.500.800] synonym: "increased circulating cachectin level" EXACT [] synonym: "increased circulating TNF level" RELATED [] synonym: "increased circulating TNFA level" EXACT [] synonym: "increased circulating tumor necrosis factor alpha level" EXACT [] is_a: MP:0008552 ! abnormal circulating tumor necrosis factor level [Term] id: MP:0008554 name: decreased circulating tumor necrosis factor level def: "reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7, MESH:D12.644.276.374.500.800] synonym: "decreased circulating cachectin level" EXACT [] synonym: "decreased circulating TNF level" EXACT [] synonym: "decreased circulating TNFA level" EXACT [] synonym: "decreased circulating tumor necrosis factor alpha level" EXACT [] synonym: "reduced circulating cachectin level" EXACT [] synonym: "reduced circulating TNF level" EXACT [] synonym: "reduced circulating TNFA level" EXACT [] synonym: "reduced circulating tumor necrosis factor alpha level" EXACT [] is_a: MP:0008552 ! abnormal circulating tumor necrosis factor level [Term] id: MP:0008555 name: abnormal interferon secretion def: "anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions" [MESH:D12.644.276.374.440] synonym: "abnormal IFN secretion" EXACT [] is_a: MP:0003009 ! abnormal cytokine secretion [Term] id: MP:0008556 name: abnormal tumor necrosis factor secretion def: "anomaly in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7, MESH:D12.644.276.374.500.800] synonym: "abnormal cachectin secretion" EXACT [] synonym: "abnormal TNF secretion" EXACT [] synonym: "abnormal TNFA secretion" EXACT [] synonym: "abnormal tumor necrosis factor alpha secretion" EXACT [] is_a: MP:0003009 ! abnormal cytokine secretion [Term] id: MP:0008557 name: abnormal interferon-alpha secretion def: "anomaly in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250] synonym: "abnormal alpha-IFN secretion" EXACT [] synonym: "abnormal alpha-Interferon secretion" EXACT [] synonym: "abnormal IFN-alpha secretion" EXACT [] is_a: MP:0008555 ! abnormal interferon secretion [Term] id: MP:0008558 name: abnormal interferon-beta secretion def: "anomaly in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity" [MESH:D12.644.276.374.440.890.275] synonym: "abnormal beta-IFN secretion" EXACT [] synonym: "abnormal beta-interferon secretion" EXACT [] synonym: "abnormal IFN-beta secretion" EXACT [] is_a: MP:0008555 ! abnormal interferon secretion [Term] id: MP:0008559 name: abnormal interferon-gamma secretion def: "anomaly in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893] synonym: "abnormal gamma-IFN secretion" EXACT [] synonym: "abnormal gamma-interferon secretion" EXACT [] synonym: "abnormal IFN-gamma secretion" EXACT [] synonym: "abnormal interferon type II secretion" EXACT [] is_a: MP:0008555 ! abnormal interferon secretion [Term] id: MP:0008560 name: increased tumor necrosis factor secretion def: "increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7, MESH:D12.644.276.374.500.800] synonym: "increased cachectin secretion" EXACT [] synonym: "increased TNF secretion" EXACT [] synonym: "increased TNFA secretion" EXACT [] synonym: "increased tumor necrosis factor alpha secretion" EXACT [] is_a: MP:0008556 ! abnormal tumor necrosis factor secretion [Term] id: MP:0008561 name: decreased tumor necrosis factor secretion def: "reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7, MESH:D12.644.276.374.500.800] synonym: "decreased cachectin secretion" EXACT [] synonym: "decreased TNF secretion" EXACT [] synonym: "decreased TNFA secretion" EXACT [] synonym: "decreased tumor necrosis factor alpha secretion" EXACT [] synonym: "reduced cachectin secretion" EXACT [] synonym: "reduced TNF secretion" EXACT [] synonym: "reduced TNFA secretion" EXACT [] synonym: "reduced tumor necrosis factor alpha secretion" EXACT [] is_a: MP:0008556 ! abnormal tumor necrosis factor secretion [Term] id: MP:0008562 name: increased interferon-alpha secretion def: "increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250] synonym: "increased alpha-IFN secretion" EXACT [] synonym: "increased alpha-Interferon secretion" EXACT [] synonym: "increased IFN-alpha secretion" EXACT [] is_a: MP:0008557 ! abnormal interferon-alpha secretion [Term] id: MP:0008563 name: decreased interferon-alpha secretion def: "decrease in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250] synonym: "decreased alpha-IFN secretion" EXACT [] synonym: "decreased alpha-Interferon secretion" EXACT [] synonym: "decreased IFN-alpha secretion" EXACT [] synonym: "reduced alpha-IFN secretion" EXACT [] synonym: "reduced alpha-Interferon secretion" EXACT [] synonym: "reduced IFN-alpha secretion" EXACT [] is_a: MP:0008557 ! abnormal interferon-alpha secretion [Term] id: MP:0008564 name: increased interferon-beta secretion def: "increase in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity" [MESH:D12.644.276.374.440.890.275] synonym: "increased beta-IFN secretion" EXACT [] synonym: "increased beta-interferon secretion" EXACT [] synonym: "increased IFN-beta secretion" EXACT [] is_a: MP:0008558 ! abnormal interferon-beta secretion [Term] id: MP:0008565 name: decreased interferon-beta secretion def: "reduction in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity" [MESH:D12.644.276.374.440.890.275] synonym: "decreased beta-IFN secretion" EXACT [] synonym: "decreased beta-interferon secretion" EXACT [] synonym: "decreased IFN-beta secretion" EXACT [] synonym: "reduced beta-IFN secretion" EXACT [] synonym: "reduced beta-interferon secretion" EXACT [] synonym: "reduced IFN-beta secretion" EXACT [] is_a: MP:0008558 ! abnormal interferon-beta secretion [Term] id: MP:0008566 name: increased interferon-gamma secretion def: "increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893] synonym: "increased gamma-IFN secretion" EXACT [] synonym: "increased gamma-interferon secretion" EXACT [] synonym: "increased IFN-gamma secretion" EXACT [] synonym: "increased interferon type II secretion" EXACT [] is_a: MP:0008559 ! abnormal interferon-gamma secretion [Term] id: MP:0008567 name: decreased interferon-gamma secretion def: "reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893] synonym: "decreased gamma-IFN secretion" EXACT [] synonym: "decreased gamma-interferon secretion" EXACT [] synonym: "decreased IFN-gamma secretion" EXACT [] synonym: "decreased interferon type II secretion" EXACT [] synonym: "reduced gamma-IFN secretion" EXACT [] synonym: "reduced gamma-interferon secretion" EXACT [] synonym: "reduced IFN-gamma secretion" EXACT [] synonym: "reduced interferon type II secretion" EXACT [] is_a: MP:0008559 ! abnormal interferon-gamma secretion [Term] id: MP:0008568 name: abnormal interleukin secretion def: "anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465] is_a: MP:0003009 ! abnormal cytokine secretion [Term] id: MP:0008569 name: lethality at weaning def: "premature death at weaning age, often due to the inability to make the transition to solid food" [MGI:csmith, MGI:llw2] synonym: "weanling lethality" EXACT [] is_a: MP:0010769 ! abnormal survival [Term] id: MP:0008570 name: lipidosis def: "abnormal fat metabolism with increased accumulation of specific lipids in tissue" [MGI:llw2] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0008571 name: abnormal synaptic bouton morphology def: "any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters" [MESH:A08.663.542.145.750] synonym: "abnormal axon terminal morphology" NARROW [] synonym: "abnormal presynaptic terminal morphology" NARROW [] is_a: MP:0005404 ! abnormal axon morphology [Term] id: MP:0008572 name: abnormal Purkinje cell dendrite morphology def: "any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith] synonym: "abnormal Purkinje cell dendrites" EXACT [] synonym: "abnormal Purkinje cell dendritic arbor" EXACT [] is_a: MP:0000877 ! abnormal Purkinje cell morphology is_a: MP:0008143 ! abnormal dendrite morphology [Term] id: MP:0008573 name: increased circulating interferon-alpha level def: "increase in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250] synonym: "increased circulating alpha-IFN level" EXACT [] synonym: "increased circulating alpha-Interferon level" EXACT [] synonym: "increased circulating IFN-alpha level" EXACT [] is_a: MP:0008549 ! abnormal circulating interferon-alpha level [Term] id: MP:0008574 name: decreased circulating interferon-alpha level def: "reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250] synonym: "decreased circulating alpha-IFN level" EXACT [] synonym: "decreased circulating alpha-Interferon level" EXACT [] synonym: "decreased circulating IFN-alpha level" EXACT [] synonym: "reduced circulating alpha-IFN level" EXACT [] synonym: "reduced circulating alpha-Interferon level" EXACT [] synonym: "reduced circulating IFN-alpha level" EXACT [] is_a: MP:0008549 ! abnormal circulating interferon-alpha level [Term] id: MP:0008575 name: increased circulating interferon-beta level def: "increase in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity" [MESH:D12.644.276.374.440.890.275] synonym: "increased circulating beta-IFN level" EXACT [] synonym: "increased circulating beta-interferon level" EXACT [] synonym: "increased circulating IFN-beta level" EXACT [] is_a: MP:0008550 ! abnormal circulating interferon-beta level [Term] id: MP:0008576 name: decreased circulating interferon-beta level def: "reduction in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity" [MESH:D12.644.276.374.440.890.275] synonym: "decreased circulating beta-IFN level" EXACT [] synonym: "decreased circulating beta-interferon level" EXACT [] synonym: "decreased circulating IFN-beta level" EXACT [] synonym: "reduced circulating beta-IFN level" EXACT [] synonym: "reduced circulating beta-interferon level" EXACT [] synonym: "reduced circulating IFN-beta level" EXACT [] is_a: MP:0008550 ! abnormal circulating interferon-beta level [Term] id: MP:0008577 name: increased circulating interferon-gamma level def: "increase in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893] synonym: "increased circulating gamma-IFN level" EXACT [] synonym: "increased circulating gamma-interferon level" EXACT [] synonym: "increased circulating IFN-gamma level" EXACT [] synonym: "increased circulating interferon type II level" EXACT [] is_a: MP:0008551 ! abnormal circulating interferon-gamma level [Term] id: MP:0008578 name: decreased circulating interferon-gamma level def: "reduction in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893] synonym: "decreased circulating gamma-IFN level" EXACT [] synonym: "decreased circulating gamma-interferon level" EXACT [] synonym: "decreased circulating IFN-gamma level" EXACT [] synonym: "decreased circulating interferon type II level" EXACT [] synonym: "reduced circulating gamma-IFN level" EXACT [] synonym: "reduced circulating gamma-interferon level" EXACT [] synonym: "reduced circulating IFN-gamma level" EXACT [] synonym: "reduced circulating interferon type II level" EXACT [] is_a: MP:0008551 ! abnormal circulating interferon-gamma level [Term] id: MP:0008579 name: abnormal Purkinje cell differentiation def: "atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [ISBN:0838580343] is_a: MP:0000877 ! abnormal Purkinje cell morphology is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0008580 name: photoreceptor inner segment degeneration def: "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith] is_a: MP:0003730 ! abnormal photoreceptor inner segment morphology [Term] id: MP:0008581 name: disorganized photoreceptor inner segment def: "derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith] is_a: MP:0003730 ! abnormal photoreceptor inner segment morphology [Term] id: MP:0008582 name: short photoreceptor inner segment def: "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith] is_a: MP:0003730 ! abnormal photoreceptor inner segment morphology [Term] id: MP:0008583 name: absent photoreceptor inner segment def: "absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith] is_a: MP:0003730 ! abnormal photoreceptor inner segment morphology [Term] id: MP:0008584 name: photoreceptor outer segment degeneration def: "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith] is_a: MP:0003729 ! abnormal photoreceptor outer segment morphology [Term] id: MP:0008585 name: absent photoreceptor outer segment def: "absence of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith] is_a: MP:0003729 ! abnormal photoreceptor outer segment morphology [Term] id: MP:0008586 name: disorganized photoreceptor outer segment def: "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith] is_a: MP:0003729 ! abnormal photoreceptor outer segment morphology [Term] id: MP:0008587 name: short photoreceptor outer segment def: "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith] is_a: MP:0003729 ! abnormal photoreceptor outer segment morphology [Term] id: MP:0008588 name: abnormal circulating interleukin level def: "anomaly in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465] synonym: "abnormal circulating IL level" EXACT [] is_a: MP:0008751 ! abnormal interleukin level is_a: MP:0010210 ! abnormal circulating cytokine level [Term] id: MP:0008589 name: abnormal circulating interleukin-1 level def: "anomaly in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501] synonym: "abnormal circulating epidermal cell derived thymocyte-activating factor level" EXACT [] synonym: "abnormal circulating IL-1 level" EXACT [] synonym: "abnormal circulating interleukin I level" EXACT [] synonym: "abnormal circulating lymphocyte-activating factor level" EXACT [] synonym: "abnormal circulating macrophage cell factor level" EXACT [] synonym: "abnormal circulating T helper factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008590 name: abnormal circulating interleukin-10 level def: "anomaly in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510] synonym: "abnormal circulating CSIF-10 level" EXACT [] synonym: "abnormal circulating cytokine synthesis inhibitory factor level" EXACT [] synonym: "abnormal circulating IL-10 level" EXACT [] synonym: "abnormal circulating IL10 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008591 name: increased circulating interleukin-1 level def: "increase in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501] synonym: "increased circulating epidermal cell derived thymocyte-activating factor level" EXACT [] synonym: "increased circulating IL-1 level" EXACT [] synonym: "increased circulating interleukin I level" EXACT [] synonym: "increased circulating lymphocyte-activating factor level" EXACT [] synonym: "increased circulating macrophage cell factor level" EXACT [] synonym: "increased circulating T helper factor level" EXACT [] is_a: MP:0008589 ! abnormal circulating interleukin-1 level [Term] id: MP:0008592 name: decreased circulating interleukin-1 level def: "reduction in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501] synonym: "decreased circulating epidermal cell derived thymocyte-activating factor level" EXACT [] synonym: "decreased circulating IL-1 level" EXACT [] synonym: "decreased circulating interleukin I level" EXACT [] synonym: "decreased circulating lymphocyte-activating factor level" EXACT [] synonym: "decreased circulating macrophage cell factor level" EXACT [] synonym: "decreased circulating T helper factor level" EXACT [] synonym: "reduced circulating epidermal cell derived thymocyte-activating factor level" EXACT [] synonym: "reduced circulating IL-1 level" EXACT [] synonym: "reduced circulating interleukin I level" EXACT [] synonym: "reduced circulating lymphocyte-activating factor level" EXACT [] synonym: "reduced circulating macrophage cell factor level" EXACT [] synonym: "reduced circulating T helper factor level" EXACT [] is_a: MP:0008589 ! abnormal circulating interleukin-1 level [Term] id: MP:0008593 name: increased circulating interleukin-10 level def: "increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510] synonym: "increased circulating CSIF-10 level" EXACT [] synonym: "increased circulating cytokine synthesis inhibitory factor level" EXACT [] synonym: "increased circulating IL-10 level" EXACT [] synonym: "increased circulating IL10 level" EXACT [] is_a: MP:0008590 ! abnormal circulating interleukin-10 level [Term] id: MP:0008594 name: decreased circulating interleukin-10 level def: "reduction in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510] synonym: "decreased circulating CSIF-10 level" EXACT [] synonym: "decreased circulating cytokine synthesis inhibitory factor level" EXACT [] synonym: "decreased circulating IL-10 level" EXACT [] synonym: "decreased circulating IL10 level" EXACT [] synonym: "reduced circulating CSIF-10 level" EXACT [] synonym: "reduced circulating cytokine synthesis inhibitory factor level" EXACT [] synonym: "reduced circulating IL-10 level" EXACT [] synonym: "reduced circulating IL10 level" EXACT [] is_a: MP:0008590 ! abnormal circulating interleukin-10 level [Term] id: MP:0008595 name: abnormal circulating interleukin-6 level def: "anomaly in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506] synonym: "abnormal circulating B cell stimulatory factor-2 level" EXACT [] synonym: "abnormal circulating B-cell differentiation factor level" EXACT [] synonym: "abnormal circulating B-cell differentiation factor-2 level" EXACT [] synonym: "abnormal circulating B-cell stimulatory factor 2 level" EXACT [] synonym: "abnormal circulating B-cell stimulatory factor-2 level" EXACT [] synonym: "abnormal circulating BSF-2 level" EXACT [] synonym: "abnormal circulating hepatocyte-stimulating factor level" EXACT [] synonym: "abnormal circulating hybridoma growth factor level" EXACT [] synonym: "abnormal circulating IFN-beta 2 level" EXACT [] synonym: "abnormal circulating IL-6 level" EXACT [] synonym: "abnormal circulating IL6 level" EXACT [] synonym: "abnormal circulating MGI-2 level" EXACT [] synonym: "abnormal circulating myeloid differentiation-inducing protein level" EXACT [] synonym: "abnormal circulating plasmacytoma growth factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008596 name: increased circulating interleukin-6 level def: "increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506] synonym: "increased circulating B cell stimulatory factor-2 level" EXACT [] synonym: "increased circulating B-cell differentiation factor level" EXACT [] synonym: "increased circulating B-cell differentiation factor-2 level" EXACT [] synonym: "increased circulating B-cell stimulatory factor 2 level" EXACT [] synonym: "increased circulating B-cell stimulatory factor-2 level" EXACT [] synonym: "increased circulating BSF-2 level" EXACT [] synonym: "increased circulating hepatocyte-stimulating factor level" EXACT [] synonym: "increased circulating hybridoma growth factor level" EXACT [] synonym: "increased circulating IFN-beta 2 level" EXACT [] synonym: "increased circulating IL-6 level" EXACT [] synonym: "increased circulating IL6 level" EXACT [] synonym: "increased circulating MGI-2 level" EXACT [] synonym: "increased circulating myeloid differentiation-inducing protein level" EXACT [] synonym: "increased circulating plasmacytoma growth factor level" EXACT [] is_a: MP:0008595 ! abnormal circulating interleukin-6 level [Term] id: MP:0008597 name: decreased circulating interleukin-6 level def: "reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506] synonym: "decreased circulating B cell stimulatory factor-2 level" EXACT [] synonym: "decreased circulating B-cell differentiation factor level" EXACT [] synonym: "decreased circulating B-cell differentiation factor-2 level" EXACT [] synonym: "decreased circulating B-cell stimulatory factor 2 level" EXACT [] synonym: "decreased circulating B-cell stimulatory factor-2 level" EXACT [] synonym: "decreased circulating BSF-2 level" EXACT [] synonym: "decreased circulating hepatocyte-stimulating factor level" EXACT [] synonym: "decreased circulating hybridoma growth factor level" EXACT [] synonym: "decreased circulating IFN-beta 2 level" EXACT [] synonym: "decreased circulating IL-6 level" EXACT [] synonym: "decreased circulating IL6 level" EXACT [] synonym: "decreased circulating MGI-2 level" EXACT [] synonym: "decreased circulating myeloid differentiation-inducing protein level" EXACT [] synonym: "decreased circulating plasmacytoma growth factor level" EXACT [] synonym: "reduced circulating B cell stimulatory factor-2 level" EXACT [] synonym: "reduced circulating B-cell differentiation factor level" EXACT [] synonym: "reduced circulating B-cell differentiation factor-2 level" EXACT [] synonym: "reduced circulating B-cell stimulatory factor 2 level" EXACT [] synonym: "reduced circulating B-cell stimulatory factor-2 level" EXACT [] synonym: "reduced circulating BSF-2 level" EXACT [] synonym: "reduced circulating hepatocyte-stimulating factor level" EXACT [] synonym: "reduced circulating hybridoma growth factor level" EXACT [] synonym: "reduced circulating IFN-beta 2 level" EXACT [] synonym: "reduced circulating IL-6 level" EXACT [] synonym: "reduced circulating IL6 level" EXACT [] synonym: "reduced circulating MGI-2 level" EXACT [] synonym: "reduced circulating myeloid differentiation-inducing protein level" EXACT [] synonym: "reduced circulating plasmacytoma growth factor level" EXACT [] is_a: MP:0008595 ! abnormal circulating interleukin-6 level [Term] id: MP:0008598 name: abnormal circulating interleukin-2 level def: "anomaly in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502] synonym: "abnormal circulating IL-2 level" EXACT [] synonym: "abnormal circulating IL2 level" EXACT [] synonym: "abnormal circulating interleukin II level" EXACT [] synonym: "abnormal circulating interleukine 2 level" EXACT [] synonym: "abnormal circulating lymphocyte mitogenic factor level" EXACT [] synonym: "abnormal circulating Ro-23-6019 level" EXACT [] synonym: "abnormal circulating Ro-236019 level" EXACT [] synonym: "abnormal circulating RU 49637 level" EXACT [] synonym: "abnormal circulating RU-49637 level" EXACT [] synonym: "abnormal circulating T-cell growth factor level" EXACT [] synonym: "abnormal circulating T-cell stimulating factor level" EXACT [] synonym: "abnormal circulating TCGF level" EXACT [] synonym: "abnormal circulating thymocyte stimulating factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008599 name: increased circulating interleukin-2 level def: "increase in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502] synonym: "increased circulating IL-2 level" EXACT [] synonym: "increased circulating IL2 level" EXACT [] synonym: "increased circulating interleukin II level" EXACT [] synonym: "increased circulating interleukine 2 level" EXACT [] synonym: "increased circulating lymphocyte mitogenic factor level" EXACT [] synonym: "increased circulating Ro-23-6019 level" EXACT [] synonym: "increased circulating Ro-236019 level" EXACT [] synonym: "increased circulating RU 49637 level" EXACT [] synonym: "increased circulating RU-49637 level" EXACT [] synonym: "increased circulating T-cell growth factor level" EXACT [] synonym: "increased circulating T-cell stimulating factor level" EXACT [] synonym: "increased circulating TCGF level" EXACT [] synonym: "increased circulating thymocyte stimulating factor level" EXACT [] is_a: MP:0008598 ! abnormal circulating interleukin-2 level [Term] id: MP:0008600 name: decreased circulating interleukin-2 level def: "reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502] synonym: "decreased circulating IL-2 level" EXACT [] synonym: "decreased circulating IL2 level" EXACT [] synonym: "decreased circulating interleukin II level" EXACT [] synonym: "decreased circulating interleukine 2 level" EXACT [] synonym: "decreased circulating lymphocyte mitogenic factor level" EXACT [] synonym: "decreased circulating Ro-23-6019 level" EXACT [] synonym: "decreased circulating Ro-236019 level" EXACT [] synonym: "decreased circulating RU 49637 level" EXACT [] synonym: "decreased circulating RU-49637 level" EXACT [] synonym: "decreased circulating T-cell growth factor level" EXACT [] synonym: "decreased circulating T-cell stimulating factor level" EXACT [] synonym: "decreased circulating TCGF level" EXACT [] synonym: "decreased circulating thymocyte stimulating factor level" EXACT [] synonym: "reduced circulating IL-2 level" EXACT [] synonym: "reduced circulating IL2 level" EXACT [] synonym: "reduced circulating interleukin II level" EXACT [] synonym: "reduced circulating interleukine 2 level" EXACT [] synonym: "reduced circulating lymphocyte mitogenic factor level" EXACT [] synonym: "reduced circulating Ro-23-6019 level" EXACT [] synonym: "reduced circulating Ro-236019 level" EXACT [] synonym: "reduced circulating RU 49637 level" EXACT [] synonym: "reduced circulating RU-49637 level" EXACT [] synonym: "reduced circulating T-cell growth factor level" EXACT [] synonym: "reduced circulating T-cell stimulating factor level" EXACT [] synonym: "reduced circulating TCGF level" EXACT [] synonym: "reduced circulating thymocyte stimulating factor level" EXACT [] is_a: MP:0008598 ! abnormal circulating interleukin-2 level [Term] id: MP:0008601 name: abnormal circulating interleukin-4 level def: "anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504] synonym: "abnormal circulating B cell stimulatory factor-1 level" EXACT [] synonym: "abnormal circulating B-cell growth factor-1 level" EXACT [] synonym: "abnormal circulating B-cell growth factor-I level" EXACT [] synonym: "abnormal circulating B-cell proliferating factor level" EXACT [] synonym: "abnormal circulating B-cell stimulating factor-1 level" EXACT [] synonym: "abnormal circulating B-cell stimulatory factor 1 level" EXACT [] synonym: "abnormal circulating B-cell stimulatory factor-1 level" EXACT [] synonym: "abnormal circulating BCGF-1 level" EXACT [] synonym: "abnormal circulating Binetrakin level" EXACT [] synonym: "abnormal circulating BSF-1 level" EXACT [] synonym: "abnormal circulating IL-4 level" EXACT [] synonym: "abnormal circulating IL4 level" EXACT [] synonym: "abnormal circulating mast cell growth factor-2 level" EXACT [] synonym: "abnormal circulating MCGF-2 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008602 name: increased circulating interleukin-4 level def: "increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504] synonym: "increased circulating B cell stimulatory factor-1 level" EXACT [] synonym: "increased circulating B-cell growth factor-1 level" EXACT [] synonym: "increased circulating B-cell growth factor-I level" EXACT [] synonym: "increased circulating B-cell proliferating factor level" EXACT [] synonym: "increased circulating B-cell stimulating factor-1 level" EXACT [] synonym: "increased circulating B-cell stimulatory factor 1 level" EXACT [] synonym: "increased circulating B-cell stimulatory factor-1 level" EXACT [] synonym: "increased circulating BCGF-1 level" EXACT [] synonym: "increased circulating Binetrakin level" EXACT [] synonym: "increased circulating BSF-1 level" EXACT [] synonym: "increased circulating IL-4 level" EXACT [] synonym: "increased circulating IL4 level" EXACT [] synonym: "increased circulating mast cell growth factor-2 level" EXACT [] synonym: "increased circulating MCGF-2 level" EXACT [] is_a: MP:0008601 ! abnormal circulating interleukin-4 level [Term] id: MP:0008603 name: decreased circulating interleukin-4 level def: "reduction in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504] synonym: "decreased circulating B cell stimulatory factor-1 level" EXACT [] synonym: "decreased circulating B-cell growth factor-1 level" EXACT [] synonym: "decreased circulating B-cell growth factor-I level" EXACT [] synonym: "decreased circulating B-cell proliferating factor level" EXACT [] synonym: "decreased circulating B-cell stimulating factor-1 level" EXACT [] synonym: "decreased circulating B-cell stimulatory factor 1 level" EXACT [] synonym: "decreased circulating B-cell stimulatory factor-1 level" EXACT [] synonym: "decreased circulating BCGF-1 level" EXACT [] synonym: "decreased circulating Binetrakin level" EXACT [] synonym: "decreased circulating BSF-1 level" EXACT [] synonym: "decreased circulating IL-4 level" EXACT [] synonym: "decreased circulating IL4 level" EXACT [] synonym: "decreased circulating mast cell growth factor-2 level" EXACT [] synonym: "decreased circulating MCGF-2 level" EXACT [] synonym: "reduced circulating B cell stimulatory factor-1 level" EXACT [] synonym: "reduced circulating B-cell growth factor-1 level" EXACT [] synonym: "reduced circulating B-cell growth factor-I level" EXACT [] synonym: "reduced circulating B-cell proliferating factor level" EXACT [] synonym: "reduced circulating B-cell stimulating factor-1 level" EXACT [] synonym: "reduced circulating B-cell stimulatory factor 1 level" EXACT [] synonym: "reduced circulating B-cell stimulatory factor-1 level" EXACT [] synonym: "reduced circulating BCGF-1 level" EXACT [] synonym: "reduced circulating Binetrakin level" EXACT [] synonym: "reduced circulating BSF-1 level" EXACT [] synonym: "reduced circulating IL-4 level" EXACT [] synonym: "reduced circulating IL4 level" EXACT [] synonym: "reduced circulating mast cell growth factor-2 level" EXACT [] synonym: "reduced circulating MCGF-2 level" EXACT [] is_a: MP:0008601 ! abnormal circulating interleukin-4 level [Term] id: MP:0008604 name: abnormal circulating interleukin-7 level def: "anomaly in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation" [MESH:D12.644.276.374.465.507] synonym: "abnormal circulating IL-7 level" EXACT [] synonym: "abnormal circulating IL7 level" EXACT [] synonym: "abnormal circulating lymphopoietin-1 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008605 name: increased circulating interleukin-7 level def: "increase in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation" [MESH:D12.644.276.374.465.507] synonym: "increased circulating IL-7 level" EXACT [] synonym: "increased circulating IL7 level" EXACT [] synonym: "increased circulating lymphopoietin-1 level" EXACT [] is_a: MP:0008604 ! abnormal circulating interleukin-7 level [Term] id: MP:0008606 name: decreased circulating interleukin-7 level def: "reduction in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation" [MESH:D12.644.276.374.465.507] synonym: "decreased circulating IL-7 level" EXACT [] synonym: "decreased circulating IL7 level" EXACT [] synonym: "decreased circulating lymphopoietin-1 level" EXACT [] synonym: "reduced circulating IL-7 level" EXACT [] synonym: "reduced circulating IL7 level" EXACT [] synonym: "reduced circulating lymphopoietin-1 level" EXACT [] is_a: MP:0008604 ! abnormal circulating interleukin-7 level [Term] id: MP:0008607 name: abnormal circulating interleukin-13 level def: "anomaly in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513] synonym: "abnormal circulating IL-13 level" EXACT [] synonym: "abnormal circulating IL13 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008608 name: increased circulating interleukin-13 level def: "increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513] synonym: "increased circulating IL-13 level" EXACT [] synonym: "increased circulating IL13 level" EXACT [] is_a: MP:0008607 ! abnormal circulating interleukin-13 level [Term] id: MP:0008609 name: decreased circulating interleukin-13 level def: "reduction in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513] synonym: "decreased circulating IL-13 level" EXACT [] synonym: "decreased circulating IL13 level" EXACT [] synonym: "reduced circulating IL-13 level" EXACT [] synonym: "reduced circulating IL13 level" EXACT [] is_a: MP:0008607 ! abnormal circulating interleukin-13 level [Term] id: MP:0008610 name: abnormal circulating interleukin-15 level def: "anomaly in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2" [MESH:D12.644.276.374.465.515] synonym: "abnormal circulating IL-15 level" EXACT [] synonym: "abnormal circulating IL15 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008611 name: increased circulating interleukin-15 level def: "increase in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2" [MESH:D12.644.276.374.465.515] synonym: "increased circulating IL-15 level" EXACT [] synonym: "increased circulating IL15 level" EXACT [] is_a: MP:0008610 ! abnormal circulating interleukin-15 level [Term] id: MP:0008612 name: decreased circulating interleukin-15 level def: "reduction in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2" [MESH:D12.644.276.374.465.515] synonym: "decreased circulating IL-15 level" EXACT [] synonym: "decreased circulating IL15 level" EXACT [] synonym: "reduced circulating IL-15 level" EXACT [] synonym: "reduced circulating IL15 level" EXACT [] is_a: MP:0008610 ! abnormal circulating interleukin-15 level [Term] id: MP:0008613 name: abnormal circulating interleukin-17 level def: "anomaly in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors" [MESH:D12.644.276.374.465.517] comment: Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. synonym: "abnormal circulating CTLA-8 level" NARROW [] synonym: "abnormal circulating CTLA8 level" NARROW [] synonym: "abnormal circulating cytokine CX2 level" NARROW [] synonym: "abnormal circulating cytotoxic T lymphocyte-associated antigen 8 level" NARROW [] synonym: "abnormal circulating IL-17 level" EXACT [] synonym: "abnormal circulating IL17 level" EXACT [] synonym: "abnormal circulating ML-1 level" NARROW [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008614 name: increased circulating interleukin-17 level def: "increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors" [MESH:D12.644.276.374.465.517] comment: Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. synonym: "increased circulating CTLA-8 level" NARROW [] synonym: "increased circulating CTLA8 level" NARROW [] synonym: "increased circulating cytokine CX2 level" NARROW [] synonym: "increased circulating cytotoxic T lymphocyte-associated antigen 8 level" NARROW [] synonym: "increased circulating IL-17 level" EXACT [] synonym: "increased circulating IL17 level" EXACT [] synonym: "increased circulating ML-1 level" NARROW [] is_a: MP:0008613 ! abnormal circulating interleukin-17 level [Term] id: MP:0008615 name: decreased circulating interleukin-17 level def: "reduction in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors" [MESH:D12.644.276.374.465.517] comment: Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. synonym: "decreased circulating CTLA-8 level" NARROW [] synonym: "decreased circulating CTLA8 level" NARROW [] synonym: "decreased circulating cytokine CX2 level" NARROW [] synonym: "decreased circulating cytotoxic T lymphocyte-associated antigen 8 level" NARROW [] synonym: "decreased circulating IL-17 level" EXACT [] synonym: "decreased circulating IL17 level" EXACT [] synonym: "decreased circulating ML-1 level" NARROW [] synonym: "reduced circulating CTLA-8 level" NARROW [] synonym: "reduced circulating CTLA8 level" NARROW [] synonym: "reduced circulating cytokine CX2 level" NARROW [] synonym: "reduced circulating cytotoxic T lymphocyte-associated antigen 8 level" NARROW [] synonym: "reduced circulating IL-17 level" EXACT [] synonym: "reduced circulating IL17 level" EXACT [] synonym: "reduced circulating ML-1 level" NARROW [] is_a: MP:0008613 ! abnormal circulating interleukin-17 level [Term] id: MP:0008616 name: abnormal circulating interleukin-12 level def: "anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells" [MESH:D12.644.276.374.465.512] comment: Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. synonym: "abnormal circulating cytotoxic lymphocyte maturation factor level" EXACT [] synonym: "abnormal circulating IL-12 level" EXACT [] synonym: "abnormal circulating IL-12 p70 level" EXACT [] synonym: "abnormal circulating IL12 level" EXACT [] synonym: "abnormal circulating interleukin-12 p70 level" EXACT [] synonym: "abnormal circulating natural killer cell stimulatory factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008617 name: increased circulating interleukin-12 level def: "increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells" [MESH:D12.644.276.374.465.512] comment: Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. synonym: "increased circulating cytotoxic lymphocyte maturation factor level" EXACT [] synonym: "increased circulating IL-12 level" EXACT [] synonym: "increased circulating IL-12 p70 level" EXACT [] synonym: "increased circulating IL12 level" EXACT [] synonym: "increased circulating interleukin-12 p70 level" EXACT [] synonym: "increased circulating natural killer cell stimulatory factor level" EXACT [] is_a: MP:0008616 ! abnormal circulating interleukin-12 level [Term] id: MP:0008618 name: decreased circulating interleukin-12 level def: "reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells" [MESH:D12.644.276.374.465.512] comment: Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. synonym: "decreased circulating cytotoxic lymphocyte maturation factor level" EXACT [] synonym: "decreased circulating IL-12 level" EXACT [] synonym: "decreased circulating IL-12 p70 level" EXACT [] synonym: "decreased circulating IL12 level" EXACT [] synonym: "decreased circulating interleukin-12 p70 level" EXACT [] synonym: "decreased circulating natural killer cell stimulatory factor level" EXACT [] synonym: "reduced circulating cytotoxic lymphocyte maturation factor level" EXACT [] synonym: "reduced circulating IL-12 level" EXACT [] synonym: "reduced circulating IL-12 p70 level" EXACT [] synonym: "reduced circulating IL12 level" EXACT [] synonym: "reduced circulating interleukin-12 p70 level" EXACT [] synonym: "reduced circulating natural killer cell stimulatory factor level" EXACT [] is_a: MP:0008616 ! abnormal circulating interleukin-12 level [Term] id: MP:0008619 name: abnormal circulating interleukin-23 level def: "anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells" [MESH:D12.644.276.374.465.759] comment: Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. synonym: "abnormal circulating IL-23 level" EXACT [] synonym: "abnormal circulating IL23 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008620 name: increased circulating interleukin-23 level def: "increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells" [MESH:D12.644.276.374.465.759] comment: Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. synonym: "increased circulating IL-23 level" EXACT [] synonym: "increased circulating IL23 level" EXACT [] is_a: MP:0008619 ! abnormal circulating interleukin-23 level [Term] id: MP:0008621 name: decreased circulating interleukin-23 level def: "reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells" [MESH:D12.644.276.374.465.759] comment: Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. synonym: "decreased circulating IL-23 level" EXACT [] synonym: "decreased circulating IL23 level" EXACT [] synonym: "reduced circulating IL-23 level" EXACT [] synonym: "reduced circulating IL23 level" EXACT [] is_a: MP:0008619 ! abnormal circulating interleukin-23 level [Term] id: MP:0008622 name: abnormal circulating interleukin-3 level def: "anomaly in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells" [MESH:D12.644.276.374.410.240.400] synonym: "abnormal circulating colony-stimulating factor 2 alpha level" EXACT [] synonym: "abnormal circulating eosinophil-mast cell growth-factor level" EXACT [] synonym: "abnormal circulating erythrocyte burst-promoting factor level" EXACT [] synonym: "abnormal circulating hematopoietin-2 level" EXACT [] synonym: "abnormal circulating IL-3 level" EXACT [] synonym: "abnormal circulating IL3 level" EXACT [] synonym: "abnormal circulating mast-cell colony-stimulating factor level" EXACT [] synonym: "abnormal circulating multipotential colony-stimulating factor level" EXACT [] synonym: "abnormal circulating P-cell stimulating factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008623 name: increased circulating interleukin-3 level def: "increase in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells" [MESH:D12.644.276.374.410.240.400] synonym: "increased circulating colony-stimulating factor 2 alpha level" EXACT [] synonym: "increased circulating eosinophil-mast cell growth-factor level" EXACT [] synonym: "increased circulating erythrocyte burst-promoting factor level" EXACT [] synonym: "increased circulating hematopoietin-2 level" EXACT [] synonym: "increased circulating IL-3 level" EXACT [] synonym: "increased circulating IL3 level" EXACT [] synonym: "increased circulating mast-cell colony-stimulating factor level" EXACT [] synonym: "increased circulating multipotential colony-stimulating factor level" EXACT [] synonym: "increased circulating P-cell stimulating factor level" EXACT [] is_a: MP:0008622 ! abnormal circulating interleukin-3 level [Term] id: MP:0008624 name: decreased circulating interleukin-3 level def: "reduction in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells" [MESH:D12.644.276.374.410.240.400] synonym: "decreased circulating colony-stimulating factor 2 alpha level" EXACT [] synonym: "decreased circulating eosinophil-mast cell growth-factor level" EXACT [] synonym: "decreased circulating erythrocyte burst-promoting factor level" EXACT [] synonym: "decreased circulating hematopoietin-2 level" EXACT [] synonym: "decreased circulating IL-3 level" EXACT [] synonym: "decreased circulating IL3 level" EXACT [] synonym: "decreased circulating mast-cell colony-stimulating factor level" EXACT [] synonym: "decreased circulating multipotential colony-stimulating factor level" EXACT [] synonym: "decreased circulating P-cell stimulating factor level" EXACT [] synonym: "reduced circulating colony-stimulating factor 2 alpha level" EXACT [] synonym: "reduced circulating eosinophil-mast cell growth-factor level" EXACT [] synonym: "reduced circulating erythrocyte burst-promoting factor level" EXACT [] synonym: "reduced circulating hematopoietin-2 level" EXACT [] synonym: "reduced circulating IL-3 level" EXACT [] synonym: "reduced circulating IL3 level" EXACT [] synonym: "reduced circulating mast-cell colony-stimulating factor level" EXACT [] synonym: "reduced circulating multipotential colony-stimulating factor level" EXACT [] synonym: "reduced circulating P-cell stimulating factor level" EXACT [] is_a: MP:0008622 ! abnormal circulating interleukin-3 level [Term] id: MP:0008625 name: abnormal circulating interleukin-5 level def: "anomaly in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505] synonym: "abnormal circulating B-cell growth factor-II level" EXACT [] synonym: "abnormal circulating BCGF-II level" EXACT [] synonym: "abnormal circulating eosinophil differentiation factor level" EXACT [] synonym: "abnormal circulating IL-5 level" EXACT [] synonym: "abnormal circulating IL5 level" EXACT [] synonym: "abnormal circulating T-cell replacing factor level" EXACT [] synonym: "abnormal circulating T-cell-replacing factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008626 name: increased circulating interleukin-5 level def: "increase in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505] synonym: "increased circulating B-cell growth factor-II level" EXACT [] synonym: "increased circulating BCGF-II level" EXACT [] synonym: "increased circulating eosinophil differentiation factor level" EXACT [] synonym: "increased circulating IL-5 level" EXACT [] synonym: "increased circulating IL5 level" EXACT [] synonym: "increased circulating T-cell replacing factor level" EXACT [] synonym: "increased circulating T-cell-replacing factor level" EXACT [] is_a: MP:0008625 ! abnormal circulating interleukin-5 level [Term] id: MP:0008627 name: decreased circulating interleukin-5 level def: "reduction in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505] synonym: "decreased circulating B-cell growth factor-II level" EXACT [] synonym: "decreased circulating BCGF-II level" EXACT [] synonym: "decreased circulating eosinophil differentiation factor level" EXACT [] synonym: "decreased circulating IL-5 level" EXACT [] synonym: "decreased circulating IL5 level" EXACT [] synonym: "decreased circulating T-cell replacing factor level" EXACT [] synonym: "decreased circulating T-cell-replacing factor level" EXACT [] synonym: "reduced circulating B-cell growth factor-II level" EXACT [] synonym: "reduced circulating BCGF-II level" EXACT [] synonym: "reduced circulating eosinophil differentiation factor level" EXACT [] synonym: "reduced circulating IL-5 level" EXACT [] synonym: "reduced circulating IL5 level" EXACT [] synonym: "reduced circulating T-cell replacing factor level" EXACT [] synonym: "reduced circulating T-cell-replacing factor level" EXACT [] is_a: MP:0008625 ! abnormal circulating interleukin-5 level [Term] id: MP:0008628 name: abnormal circulating interleukin-9 level def: "anomaly in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509] synonym: "abnormal circulating IL-9 level" EXACT [] synonym: "abnormal circulating IL9 level" EXACT [] synonym: "abnormal circulating P40 T-Cell Growth Factor level" EXACT [] synonym: "abnormal circulating T-Cell Growth Factor P40 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008629 name: increased circulating interleukin-9 level def: "increase in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509] synonym: "increased circulating IL-9 level" EXACT [] synonym: "increased circulating IL9 level" EXACT [] synonym: "increased circulating P40 T-Cell Growth Factor level" EXACT [] synonym: "increased circulating T-Cell Growth Factor P40 level" EXACT [] is_a: MP:0008628 ! abnormal circulating interleukin-9 level [Term] id: MP:0008630 name: decreased circulating interleukin-9 level def: "reduction in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509] synonym: "decreased circulating IL-9 level" EXACT [] synonym: "decreased circulating IL9 level" EXACT [] synonym: "decreased circulating P40 T-Cell Growth Factor level" EXACT [] synonym: "decreased circulating T-Cell Growth Factor P40 level" EXACT [] synonym: "reduced circulating IL-9 level" EXACT [] synonym: "reduced circulating IL9 level" EXACT [] synonym: "reduced circulating P40 T-Cell Growth Factor level" EXACT [] synonym: "reduced circulating T-Cell Growth Factor P40 level" EXACT [] is_a: MP:0008628 ! abnormal circulating interleukin-9 level [Term] id: MP:0008631 name: abnormal circulating interleukin-16 level def: "anomaly in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes" [MESH:D12.644.276.374.465.516] synonym: "abnormal circulating IL-16 level" EXACT [] synonym: "abnormal circulating IL16 level" EXACT [] synonym: "abnormal circulating LCF factor level" EXACT [] synonym: "abnormal circulating lymphocyte chemoattractant factor level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008632 name: increased circulating interleukin-16 level def: "increase in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes" [MESH:D12.644.276.374.465.516] synonym: "increased circulating IL-16 level" EXACT [] synonym: "increased circulating IL16 level" EXACT [] synonym: "increased circulating LCF factor level" EXACT [] synonym: "increased circulating lymphocyte chemoattractant factor level" EXACT [] is_a: MP:0008631 ! abnormal circulating interleukin-16 level [Term] id: MP:0008633 name: decreased circulating interleukin-16 level def: "reduction in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes" [MESH:D12.644.276.374.465.516] synonym: "decreased circulating IL-16 level" EXACT [] synonym: "decreased circulating IL16 level" EXACT [] synonym: "decreased circulating LCF factor level" EXACT [] synonym: "decreased circulating lymphocyte chemoattractant factor level" EXACT [] synonym: "reduced circulating IL-16 level" EXACT [] synonym: "reduced circulating IL16 level" EXACT [] synonym: "reduced circulating LCF factor level" EXACT [] synonym: "reduced circulating lymphocyte chemoattractant factor level" EXACT [] is_a: MP:0008631 ! abnormal circulating interleukin-16 level [Term] id: MP:0008634 name: abnormal circulating interleukin-18 level def: "anomaly in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity" [MESH:D12.644.276.374.465.518] synonym: "abnormal circulating IFN-gamma inducing factor level" EXACT [] synonym: "abnormal circulating IL-18 level" EXACT [] synonym: "abnormal circulating IL18 level" EXACT [] synonym: "abnormal circulating interferon-gamma inducing factor" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008635 name: increased circulating interleukin-18 level def: "increase in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity" [MESH:D12.644.276.374.465.518] synonym: "increased circulating IFN-gamma inducing factor level" EXACT [] synonym: "increased circulating IL-18 level" EXACT [] synonym: "increased circulating IL18 level" EXACT [] synonym: "increased circulating interferon-gamma inducing factor" EXACT [] is_a: MP:0008634 ! abnormal circulating interleukin-18 level [Term] id: MP:0008636 name: decreased circulating interleukin-18 level def: "reduction in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity" [MESH:D12.644.276.374.465.518] synonym: "decreased circulating IFN-gamma inducing factor level" EXACT [] synonym: "decreased circulating IL-18 level" EXACT [] synonym: "decreased circulating IL18 level" EXACT [] synonym: "decreased circulating interferon-gamma inducing factor" EXACT [] synonym: "reduced circulating IFN-gamma inducing factor level" EXACT [] synonym: "reduced circulating IL-18 level" EXACT [] synonym: "reduced circulating IL18 level" EXACT [] synonym: "reduced circulating interferon-gamma inducing factor" EXACT [] is_a: MP:0008634 ! abnormal circulating interleukin-18 level [Term] id: MP:0008637 name: abnormal circulating interleukin-1 alpha level def: "anomaly in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300] synonym: "abnormal circulating hematopoietin-1 level" EXACT [] synonym: "abnormal circulating IL-1a level" EXACT [] synonym: "abnormal circulating IL-1alpha level" EXACT [] synonym: "abnormal circulating IL1 alpha level" EXACT [] synonym: "abnormal circulating IL1a level" EXACT [] is_a: MP:0008589 ! abnormal circulating interleukin-1 level [Term] id: MP:0008638 name: increased circulating interleukin-1 alpha level def: "increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300] synonym: "increased circulating hematopoietin-1 level" EXACT [] synonym: "increased circulating IL-1a level" EXACT [] synonym: "increased circulating IL-1alpha level" EXACT [] synonym: "increased circulating IL1 alpha level" EXACT [] synonym: "increased circulating IL1a level" EXACT [] is_a: MP:0008637 ! abnormal circulating interleukin-1 alpha level [Term] id: MP:0008639 name: decreased circulating interleukin-1 alpha level def: "reduction in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300] synonym: "decreased circulating hematopoietin-1 level" EXACT [] synonym: "decreased circulating IL-1a level" EXACT [] synonym: "decreased circulating IL-1alpha level" EXACT [] synonym: "decreased circulating IL1 alpha level" EXACT [] synonym: "decreased circulating IL1a level" EXACT [] synonym: "reduced circulating hematopoietin-1 level" EXACT [] synonym: "reduced circulating IL-1a level" EXACT [] synonym: "reduced circulating IL-1alpha level" EXACT [] synonym: "reduced circulating IL1 alpha level" EXACT [] synonym: "reduced circulating IL1a level" EXACT [] is_a: MP:0008637 ! abnormal circulating interleukin-1 alpha level [Term] id: MP:0008640 name: abnormal circulating interleukin-1 beta level def: "anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600] synonym: "abnormal circulating catabloin level" EXACT [] synonym: "abnormal circulating IL-1 beta level" EXACT [] synonym: "abnormal circulating IL-1b level" EXACT [] synonym: "abnormal circulating Il1b level" EXACT [] is_a: MP:0008589 ! abnormal circulating interleukin-1 level [Term] id: MP:0008641 name: increased circulating interleukin-1 beta level def: "increased in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600] synonym: "increased circulating catabloin level" EXACT [] synonym: "increased circulating IL-1 beta level" EXACT [] synonym: "increased circulating IL-1b level" EXACT [] synonym: "increased circulating Il1b level" EXACT [] is_a: MP:0008640 ! abnormal circulating interleukin-1 beta level [Term] id: MP:0008642 name: decreased circulating interleukin-1 beta level def: "reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600] synonym: "decreased circulating catabloin level" EXACT [] synonym: "decreased circulating IL-1 beta level" EXACT [] synonym: "decreased circulating IL-1b level" EXACT [] synonym: "decreased circulating Il1b level" EXACT [] synonym: "reduced circulating catabloin level" EXACT [] synonym: "reduced circulating IL-1 beta level" EXACT [] synonym: "reduced circulating IL-1b level" EXACT [] synonym: "reduced circulating Il1b level" EXACT [] is_a: MP:0008640 ! abnormal circulating interleukin-1 beta level [Term] id: MP:0008643 name: abnormal circulating interleukin-12a level def: "anomaly in the amount in the blood of the p35 subunit of interleukin-12" [MESH:D12.644.276.374.465.512.249] synonym: "abnormal circulating IL-12a level" EXACT [] synonym: "abnormal circulating IL-12p35 level" EXACT [] synonym: "abnormal circulating interleukin-12p35 level" EXACT [] is_a: MP:0008616 ! abnormal circulating interleukin-12 level [Term] id: MP:0008644 name: increased circulating interleukin-12a level def: "increase in the amount in the blood of the p35 subunit of interleukin-12" [MESH:D12.644.276.374.465.512.249] synonym: "increased circulating IL-12a level" EXACT [] synonym: "increased circulating IL-12p35 level" EXACT [] synonym: "increased circulating interleukin-12p35 level" EXACT [] is_a: MP:0008643 ! abnormal circulating interleukin-12a level [Term] id: MP:0008645 name: decreased circulating interleukin-12a level def: "reduction in the amount in the blood of the p35 subunit of interleukin-12" [MESH:D12.644.276.374.465.512.249] synonym: "decreased circulating IL-12a level" EXACT [] synonym: "decreased circulating IL-12p35 level" EXACT [] synonym: "decreased circulating interleukin-12p35 level" EXACT [] synonym: "reduced circulating IL-12a level" EXACT [] synonym: "reduced circulating IL-12p35 level" EXACT [] synonym: "reduced circulating interleukin-12p35 level" EXACT [] is_a: MP:0008643 ! abnormal circulating interleukin-12a level [Term] id: MP:0008646 name: abnormal circulating interleukin-12b level def: "anomaly in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23" [MESH:D12.644.276.374.465.512.500] synonym: "abnormal circulating IL-12b level" EXACT [] synonym: "abnormal circulating IL-12p40 level" EXACT [] synonym: "abnormal circulating IL-23b level" EXACT [] synonym: "abnormal circulating IL-23p40 level" EXACT [] synonym: "abnormal circulating interleukin-12 beta chain level" EXACT [] synonym: "abnormal circulating interleukin-12p40 level" EXACT [] synonym: "abnormal circulating interleukin-23 p40 level" EXACT [] synonym: "abnormal circulating interleukin-23b level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0008647 name: increased circulating interleukin-12b level def: "increase in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23" [MESH:D12.644.276.374.465.512.500] synonym: "increased circulating IL-12b level" EXACT [] synonym: "increased circulating IL-12p40 level" EXACT [] synonym: "increased circulating IL-23b level" EXACT [] synonym: "increased circulating IL-23p40 level" EXACT [] synonym: "increased circulating interleukin-12 beta chain level" EXACT [] synonym: "increased circulating interleukin-12p40 level" EXACT [] synonym: "increased circulating interleukin-23 p40 level" EXACT [] synonym: "increased circulating interleukin-23b level" EXACT [] is_a: MP:0008646 ! abnormal circulating interleukin-12b level [Term] id: MP:0008648 name: decreased circulating interleukin-12b level def: "reduction in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23" [MESH:D12.644.276.374.465.512.500] synonym: "decreased circulating IL-12b level" EXACT [] synonym: "decreased circulating IL-12p40 level" EXACT [] synonym: "decreased circulating IL-23b level" EXACT [] synonym: "decreased circulating IL-23p40 level" EXACT [] synonym: "decreased circulating interleukin-12 beta chain level" EXACT [] synonym: "decreased circulating interleukin-12p40 level" EXACT [] synonym: "decreased circulating interleukin-23 p40 level" EXACT [] synonym: "decreased circulating interleukin-23b level" EXACT [] synonym: "reduced circulating IL-12b level" EXACT [] synonym: "reduced circulating IL-12p40 level" EXACT [] synonym: "reduced circulating IL-23b level" EXACT [] synonym: "reduced circulating IL-23p40 level" EXACT [] synonym: "reduced circulating interleukin-12 beta chain level" EXACT [] synonym: "reduced circulating interleukin-12p40 level" EXACT [] synonym: "reduced circulating interleukin-23 p40 level" EXACT [] synonym: "reduced circulating interleukin-23b level" EXACT [] is_a: MP:0008646 ! abnormal circulating interleukin-12b level [Term] id: MP:0008649 name: abnormal circulating interleukin-23a level def: "anomaly in the amount in the blood of the p19 subunit of interleukin-23" [MESH:D12.644.276.374.465.759.500] synonym: "abnormal circulating IL-23 alpha level" EXACT [] synonym: "abnormal circulating IL-23 p19 level" EXACT [] synonym: "abnormal circulating IL-23a level" EXACT [] synonym: "abnormal circulating IL-23p19 level" EXACT [] synonym: "abnormal circulating interleukin-23 alpha level" EXACT [] synonym: "abnormal circulating interleukin-23p19 level" EXACT [] is_a: MP:0008619 ! abnormal circulating interleukin-23 level [Term] id: MP:0008650 name: abnormal interleukin-1 secretion def: "anomaly in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501] synonym: "abnormal epidermal cell derived thymocyte-activating factor secretion" EXACT [] synonym: "abnormal IL-1 secretion" EXACT [] synonym: "abnormal interleukin I secretion" EXACT [] synonym: "abnormal lymphocyte-activating factor secretion" EXACT [] synonym: "abnormal macrophage cell factor secretion" EXACT [] synonym: "abnormal T helper factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008651 name: increased interleukin-1 secretion def: "increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501] synonym: "increased epidermal cell derived thymocyte-activating factor secretion" EXACT [] synonym: "increased IL-1 secretion" EXACT [] synonym: "increased interleukin I secretion" EXACT [] synonym: "increased lymphocyte-activating factor secretion" EXACT [] synonym: "increased macrophage cell factor secretion" EXACT [] synonym: "increased T helper factor secretion" EXACT [] is_a: MP:0008650 ! abnormal interleukin-1 secretion [Term] id: MP:0008652 name: decreased interleukin-1 secretion def: "reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501] synonym: "decreased epidermal cell derived thymocyte-activating factor secretion" EXACT [] synonym: "decreased IL-1 secretion" EXACT [] synonym: "decreased interleukin I secretion" EXACT [] synonym: "decreased lymphocyte-activating factor secretion" EXACT [] synonym: "decreased macrophage cell factor secretion" EXACT [] synonym: "decreased T helper factor secretion" EXACT [] synonym: "reduced epidermal cell derived thymocyte-activating factor secretion" EXACT [] synonym: "reduced IL-1 secretion" EXACT [] synonym: "reduced interleukin I secretion" EXACT [] synonym: "reduced lymphocyte-activating factor secretion" EXACT [] synonym: "reduced macrophage cell factor secretion" EXACT [] synonym: "reduced T helper factor secretion" EXACT [] is_a: MP:0008650 ! abnormal interleukin-1 secretion [Term] id: MP:0008653 name: abnormal interleukin-1 alpha secretion def: "anomaly in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300] synonym: "abnormal hematopoietin-1 secretion" EXACT [] synonym: "abnormal IL-1a secretion" EXACT [] synonym: "abnormal IL-1alpha secretion" EXACT [] synonym: "abnormal IL1 alpha secretion" EXACT [] synonym: "abnormal IL1a secretion" EXACT [] is_a: MP:0008650 ! abnormal interleukin-1 secretion [Term] id: MP:0008654 name: increased interleukin-1 alpha secretion def: "increase in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300] synonym: "increased hematopoietin-1 secretion" EXACT [] synonym: "increased IL-1a secretion" EXACT [] synonym: "increased IL-1alpha secretion" EXACT [] synonym: "increased IL1 alpha secretion" EXACT [] synonym: "increased IL1a secretion" EXACT [] is_a: MP:0008653 ! abnormal interleukin-1 alpha secretion [Term] id: MP:0008655 name: decreased interleukin-1 alpha secretion def: "reduction in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300] synonym: "decreased hematopoietin-1 secretion" EXACT [] synonym: "decreased IL-1a secretion" EXACT [] synonym: "decreased IL-1alpha secretion" EXACT [] synonym: "decreased IL1 alpha secretion" EXACT [] synonym: "decreased IL1a secretion" EXACT [] synonym: "reduced hematopoietin-1 secretion" EXACT [] synonym: "reduced IL-1a secretion" EXACT [] synonym: "reduced IL-1alpha secretion" EXACT [] synonym: "reduced IL1 alpha secretion" EXACT [] synonym: "reduced IL1a secretion" EXACT [] is_a: MP:0008653 ! abnormal interleukin-1 alpha secretion [Term] id: MP:0008656 name: abnormal interleukin-1 beta secretion def: "anomaly in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600] synonym: "abnormal catabloin secretion" EXACT [] synonym: "abnormal IL-1 beta secretion" EXACT [] synonym: "abnormal IL-1b secretion" EXACT [] synonym: "abnormal Il1b secretion" EXACT [] is_a: MP:0008650 ! abnormal interleukin-1 secretion [Term] id: MP:0008657 name: increased interleukin-1 beta secretion def: "increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600] synonym: "increased catabloin secretion" EXACT [] synonym: "increased IL-1 beta secretion" EXACT [] synonym: "increased IL-1b secretion" EXACT [] synonym: "increased Il1b secretion" EXACT [] is_a: MP:0008656 ! abnormal interleukin-1 beta secretion [Term] id: MP:0008658 name: decreased interleukin-1 beta secretion def: "reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600] synonym: "decreased catabloin secretion" EXACT [] synonym: "decreased IL-1 beta secretion" EXACT [] synonym: "decreased IL-1b secretion" EXACT [] synonym: "decreased Il1b secretion" EXACT [] synonym: "reduced catabloin secretion" EXACT [] synonym: "reduced IL-1 beta secretion" EXACT [] synonym: "reduced IL-1b secretion" EXACT [] synonym: "reduced Il1b secretion" EXACT [] is_a: MP:0008656 ! abnormal interleukin-1 beta secretion [Term] id: MP:0008659 name: abnormal interleukin-10 secretion def: "anomaly in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510] synonym: "abnormal CSIF-10 secretion" EXACT [] synonym: "abnormal cytokine synthesis inhibitory factor secretion" EXACT [] synonym: "abnormal IL-10 secretion" EXACT [] synonym: "abnormal IL10 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008660 name: increased interleukin-10 secretion def: "increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510] synonym: "increased CSIF-10 secretion" EXACT [] synonym: "increased cytokine synthesis inhibitory factor secretion" EXACT [] synonym: "increased IL-10 secretion" EXACT [] synonym: "increased IL10 secretion" EXACT [] is_a: MP:0008659 ! abnormal interleukin-10 secretion [Term] id: MP:0008661 name: decreased interleukin-10 secretion def: "reduction in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510] synonym: "decreased CSIF-10 secretion" EXACT [] synonym: "decreased cytokine synthesis inhibitory factor secretion" EXACT [] synonym: "decreased IL-10 secretion" EXACT [] synonym: "decreased IL10 secretion" EXACT [] synonym: "reduced CSIF-10 secretion" EXACT [] synonym: "reduced cytokine synthesis inhibitory factor secretion" EXACT [] synonym: "reduced IL-10 secretion" EXACT [] synonym: "reduced IL10 secretion" EXACT [] is_a: MP:0008659 ! abnormal interleukin-10 secretion [Term] id: MP:0008662 name: abnormal interleukin-12 secretion def: "anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells" [MESH:D12.644.276.374.465.512] comment: Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. synonym: "abnormal cytotoxic lymphocyte maturation factor secretion" EXACT [] synonym: "abnormal IL-12 p70 secretion" EXACT [] synonym: "abnormal IL-12 secretion" EXACT [] synonym: "abnormal IL12 secretion" EXACT [] synonym: "abnormal interleukin-12 p70 secretion" EXACT [] synonym: "abnormal natural killer cell stimulatory factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008663 name: increased interleukin-12 secretion def: "increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells" [MESH:D12.644.276.374.465.512] comment: Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. synonym: "increased cytotoxic lymphocyte maturation factor secretion" EXACT [] synonym: "increased IL-12 p70 secretion" EXACT [] synonym: "increased IL-12 secretion" EXACT [] synonym: "increased IL12 secretion" EXACT [] synonym: "increased interleukin-12 p70 secretion" EXACT [] synonym: "increased natural killer cell stimulatory factor secretion" EXACT [] is_a: MP:0008662 ! abnormal interleukin-12 secretion [Term] id: MP:0008664 name: decreased interleukin-12 secretion def: "reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells" [MESH:D12.644.276.374.465.512] comment: Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. synonym: "decreased cytotoxic lymphocyte maturation factor secretion" EXACT [] synonym: "decreased IL-12 p70 secretion" EXACT [] synonym: "decreased IL-12 secretion" EXACT [] synonym: "decreased IL12 secretion" EXACT [] synonym: "decreased interleukin-12 p70 secretion" EXACT [] synonym: "decreased natural killer cell stimulatory factor secretion" EXACT [] synonym: "reduced cytotoxic lymphocyte maturation factor secretion" EXACT [] synonym: "reduced IL-12 p70 secretion" EXACT [] synonym: "reduced IL-12 secretion" EXACT [] synonym: "reduced IL12 secretion" EXACT [] synonym: "reduced interleukin-12 p70 secretion" EXACT [] synonym: "reduced natural killer cell stimulatory factor secretion" EXACT [] is_a: MP:0008662 ! abnormal interleukin-12 secretion [Term] id: MP:0008665 name: abnormal interleukin-12a secretion def: "anomaly in the production or release of the p35 subunit of interleukin-12" [MESH:D12.644.276.374.465.512.249] synonym: "abnormal IL-12a secretion" EXACT [] synonym: "abnormal IL-12p35 secretion" EXACT [] synonym: "abnormal interleukin-12p35 secretion" EXACT [] is_a: MP:0008662 ! abnormal interleukin-12 secretion [Term] id: MP:0008666 name: increased interleukin-12a secretion def: "increase in the production or release of the p35 subunit of interleukin-12" [MESH:D12.644.276.374.465.512.249] synonym: "increased IL-12a secretion" EXACT [] synonym: "increased IL-12p35 secretion" EXACT [] synonym: "increased interleukin-12p35 secretion" EXACT [] is_a: MP:0008665 ! abnormal interleukin-12a secretion [Term] id: MP:0008667 name: decreased interleukin-12a secretion def: "reduction in the production or release of the p35 subunit of interleukin-12" [MESH:D12.644.276.374.465.512.249] synonym: "decreased IL-12a secretion" EXACT [] synonym: "decreased IL-12p35 secretion" EXACT [] synonym: "decreased interleukin-12p35 secretion" EXACT [] synonym: "reduced IL-12a secretion" EXACT [] synonym: "reduced IL-12p35 secretion" EXACT [] synonym: "reduced interleukin-12p35 secretion" EXACT [] is_a: MP:0008665 ! abnormal interleukin-12a secretion [Term] id: MP:0008668 name: abnormal interleukin-12b secretion def: "anomaly in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23" [MESH:D12.644.276.374.465.512.500] synonym: "abnormal IL-12b secretion" EXACT [] synonym: "abnormal IL-12p40 secretion" EXACT [] synonym: "abnormal IL-23b secretion" EXACT [] synonym: "abnormal IL-23p40 secretion" EXACT [] synonym: "abnormal interleukin-12 beta chain secretion" EXACT [] synonym: "abnormal interleukin-12p40 secretion" EXACT [] synonym: "abnormal interleukin-23 p40 secretion" EXACT [] synonym: "abnormal interleukin-23b secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008669 name: increased interleukin-12b secretion def: "increase in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23" [MESH:D12.644.276.374.465.512.500] synonym: "increased IL-12b secretion" EXACT [] synonym: "increased IL-12p40 secretion" EXACT [] synonym: "increased IL-23b secretion" EXACT [] synonym: "increased IL-23p40 secretion" EXACT [] synonym: "increased interleukin-12 beta chain secretion" EXACT [] synonym: "increased interleukin-12p40 secretion" EXACT [] synonym: "increased interleukin-23 p40 secretion" EXACT [] synonym: "increased interleukin-23b secretion" EXACT [] is_a: MP:0008668 ! abnormal interleukin-12b secretion [Term] id: MP:0008670 name: decreased interleukin-12b secretion def: "reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23" [MESH:D12.644.276.374.465.512.500] synonym: "decreased IL-12b secretion" EXACT [] synonym: "decreased IL-12p40 secretion" EXACT [] synonym: "decreased IL-23b secretion" EXACT [] synonym: "decreased IL-23p40 secretion" EXACT [] synonym: "decreased interleukin-12 beta chain secretion" EXACT [] synonym: "decreased interleukin-12p40 secretion" EXACT [] synonym: "decreased interleukin-23 p40 secretion" EXACT [] synonym: "decreased interleukin-23b secretion" EXACT [] synonym: "reduced IL-12b secretion" EXACT [] synonym: "reduced IL-12p40 secretion" EXACT [] synonym: "reduced IL-23b secretion" EXACT [] synonym: "reduced IL-23p40 secretion" EXACT [] synonym: "reduced interleukin-12 beta chain secretion" EXACT [] synonym: "reduced interleukin-12p40 secretion" EXACT [] synonym: "reduced interleukin-23 p40 secretion" EXACT [] synonym: "reduced interleukin-23b secretion" EXACT [] is_a: MP:0008668 ! abnormal interleukin-12b secretion [Term] id: MP:0008671 name: abnormal interleukin-13 secretion def: "anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513] synonym: "abnormal IL-13 secretion" EXACT [] synonym: "abnormal IL13 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008672 name: increased interleukin-13 secretion def: "increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513] synonym: "increased IL-13 secretion" EXACT [] synonym: "increased IL13 secretion" EXACT [] is_a: MP:0008671 ! abnormal interleukin-13 secretion [Term] id: MP:0008673 name: decreased interleukin-13 secretion def: "reduction in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513] synonym: "decreased IL-13 secretion" EXACT [] synonym: "decreased IL13 secretion" EXACT [] synonym: "reduced IL-13 secretion" EXACT [] synonym: "reduced IL13 secretion" EXACT [] is_a: MP:0008671 ! abnormal interleukin-13 secretion [Term] id: MP:0008674 name: abnormal interleukin-15 secretion def: "anomaly in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2" [MESH:D12.644.276.374.465.515] synonym: "abnormal IL-15 secretion" EXACT [] synonym: "abnormal IL15 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008675 name: increased interleukin-15 secretion def: "increase in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2" [MESH:D12.644.276.374.465.515] synonym: "increased IL-15 secretion" EXACT [] synonym: "increased IL15 secretion" EXACT [] is_a: MP:0008674 ! abnormal interleukin-15 secretion [Term] id: MP:0008676 name: decreased interleukin-15 secretion def: "reduction in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2" [MESH:D12.644.276.374.465.515] synonym: "decreased IL-15 secretion" EXACT [] synonym: "decreased IL15 secretion" EXACT [] synonym: "reduced IL-15 secretion" EXACT [] synonym: "reduced IL15 secretion" EXACT [] is_a: MP:0008674 ! abnormal interleukin-15 secretion [Term] id: MP:0008677 name: abnormal interleukin-16 secretion def: "anomaly in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes" [MESH:D12.644.276.374.465.516] synonym: "abnormal IL-16 secretion" EXACT [] synonym: "abnormal IL16 secretion" EXACT [] synonym: "abnormal LCF factor secretion" EXACT [] synonym: "abnormal lymphocyte chemoattractant factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008678 name: increased interleukin-16 secretion def: "increase in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes" [MESH:D12.644.276.374.465.516] synonym: "increased IL-16 secretion" EXACT [] synonym: "increased IL16 secretion" EXACT [] synonym: "increased LCF factor secretion" EXACT [] synonym: "increased lymphocyte chemoattractant factor secretion" EXACT [] is_a: MP:0008677 ! abnormal interleukin-16 secretion [Term] id: MP:0008679 name: decreased interleukin-16 secretion def: "reduction in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes" [MESH:D12.644.276.374.465.516] synonym: "decreased IL-16 secretion" EXACT [] synonym: "decreased IL16 secretion" EXACT [] synonym: "decreased LCF factor secretion" EXACT [] synonym: "decreased lymphocyte chemoattractant factor secretion" EXACT [] synonym: "reduced IL-16 secretion" EXACT [] synonym: "reduced IL16 secretion" EXACT [] synonym: "reduced LCF factor secretion" EXACT [] synonym: "reduced lymphocyte chemoattractant factor secretion" EXACT [] is_a: MP:0008677 ! abnormal interleukin-16 secretion [Term] id: MP:0008680 name: abnormal interleukin-17 secretion def: "anomaly in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors" [MESH:D12.644.276.374.465.517] comment: Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. synonym: "abnormal CTLA-8 secretion" NARROW [] synonym: "abnormal CTLA8 secretion" NARROW [] synonym: "abnormal cytokine CX2 secretion" NARROW [] synonym: "abnormal cytotoxic T lymphocyte-associated antigen 8 secretion" NARROW [] synonym: "abnormal IL-17 secretion" EXACT [] synonym: "abnormal IL17 secretion" EXACT [] synonym: "abnormal ML-1 secretion" NARROW [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008681 name: increased interleukin-17 secretion def: "increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors" [MESH:D12.644.276.374.465.517] comment: Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. synonym: "increased CTLA-8 secretion" NARROW [] synonym: "increased CTLA8 secretion" NARROW [] synonym: "increased cytokine CX2 secretion" NARROW [] synonym: "increased cytotoxic T lymphocyte-associated antigen 8 secretion" NARROW [] synonym: "increased IL-17 secretion" EXACT [] synonym: "increased IL17 secretion" EXACT [] synonym: "increased ML-1 secretion" NARROW [] is_a: MP:0008680 ! abnormal interleukin-17 secretion [Term] id: MP:0008682 name: decreased interleukin-17 secretion def: "reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors" [MESH:D12.644.276.374.465.517] comment: Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. synonym: "decreased CTLA-8 secretion" NARROW [] synonym: "decreased CTLA8 secretion" NARROW [] synonym: "decreased cytokine CX2 secretion" NARROW [] synonym: "decreased cytotoxic T lymphocyte-associated antigen 8 secretion" NARROW [] synonym: "decreased IL-17 secretion" EXACT [] synonym: "decreased IL17 secretion" EXACT [] synonym: "decreased ML-1 secretion" NARROW [] synonym: "reduced CTLA-8 secretion" NARROW [] synonym: "reduced CTLA8 secretion" NARROW [] synonym: "reduced cytokine CX2 secretion" NARROW [] synonym: "reduced cytotoxic T lymphocyte-associated antigen 8 secretion" NARROW [] synonym: "reduced IL-17 secretion" EXACT [] synonym: "reduced IL17 secretion" EXACT [] synonym: "reduced ML-1 secretion" NARROW [] is_a: MP:0008680 ! abnormal interleukin-17 secretion [Term] id: MP:0008683 name: abnormal interleukin-18 secretion def: "anomaly in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity" [MESH:D12.644.276.374.465.518] synonym: "abnormal IFN-gamma inducing factor secretion" EXACT [] synonym: "abnormal IL-18 secretion" EXACT [] synonym: "abnormal IL18 secretion" EXACT [] synonym: "abnormal interferon-gamma inducing factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008684 name: increased interleukin-18 secretion def: "increase in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity" [MESH:D12.644.276.374.465.518] synonym: "increased IFN-gamma inducing factor secretion" EXACT [] synonym: "increased IL-18 secretion" EXACT [] synonym: "increased IL18 secretion" EXACT [] synonym: "increased interferon-gamma inducing factor secretion" EXACT [] is_a: MP:0008683 ! abnormal interleukin-18 secretion [Term] id: MP:0008685 name: decreased interleukin-18 secretion def: "reduction in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity" [MESH:D12.644.276.374.465.518] synonym: "decreased IFN-gamma inducing factor secretion" EXACT [] synonym: "decreased IL-18 secretion" EXACT [] synonym: "decreased IL18 secretion" EXACT [] synonym: "decreased interferon-gamma inducing factor secretion" EXACT [] synonym: "reduced IFN-gamma inducing factor secretion" EXACT [] synonym: "reduced IL-18 secretion" EXACT [] synonym: "reduced IL18 secretion" EXACT [] synonym: "reduced interferon-gamma inducing factor secretion" EXACT [] is_a: MP:0008683 ! abnormal interleukin-18 secretion [Term] id: MP:0008686 name: abnormal interleukin-2 secretion def: "anomaly in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502] synonym: "abnormal IL-2 secretion" EXACT [] synonym: "abnormal IL2 secretion" EXACT [] synonym: "abnormal interleukin II secretion" EXACT [] synonym: "abnormal interleukine 2 secretion" EXACT [] synonym: "abnormal lymphocyte mitogenic factor secretion" EXACT [] synonym: "abnormal Ro-23-6019 secretion" EXACT [] synonym: "abnormal Ro-236019 secretion" EXACT [] synonym: "abnormal RU 49637 secretion" EXACT [] synonym: "abnormal RU-49637 secretion" EXACT [] synonym: "abnormal T-cell growth factor secretion" EXACT [] synonym: "abnormal T-cell stimulating factor secretion" EXACT [] synonym: "abnormal TCGF secretion" EXACT [] synonym: "abnormal thymocyte stimulating factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008687 name: increased interleukin-2 secretion def: "increase in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502] synonym: "increased IL-2 secretion" EXACT [] synonym: "increased IL2 secretion" EXACT [] synonym: "increased interleukin II secretion" EXACT [] synonym: "increased interleukine 2 secretion" EXACT [] synonym: "increased lymphocyte mitogenic factor secretion" EXACT [] synonym: "increased Ro-23-6019 secretion" EXACT [] synonym: "increased Ro-236019 secretion" EXACT [] synonym: "increased RU 49637 secretion" EXACT [] synonym: "increased RU-49637 secretion" EXACT [] synonym: "increased T-cell growth factor secretion" EXACT [] synonym: "increased T-cell stimulating factor secretion" EXACT [] synonym: "increased TCGF secretion" EXACT [] synonym: "increased thymocyte stimulating factor secretion" EXACT [] is_a: MP:0008686 ! abnormal interleukin-2 secretion [Term] id: MP:0008688 name: decreased interleukin-2 secretion def: "reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502] synonym: "decreased IL-2 secretion" EXACT [] synonym: "decreased IL2 secretion" EXACT [] synonym: "decreased interleukin II secretion" EXACT [] synonym: "decreased interleukine 2 secretion" EXACT [] synonym: "decreased lymphocyte mitogenic factor secretion" EXACT [] synonym: "decreased Ro-23-6019 secretion" EXACT [] synonym: "decreased Ro-236019 secretion" EXACT [] synonym: "decreased RU 49637 secretion" EXACT [] synonym: "decreased RU-49637 secretion" EXACT [] synonym: "decreased T-cell growth factor secretion" EXACT [] synonym: "decreased T-cell stimulating factor secretion" EXACT [] synonym: "decreased TCGF secretion" EXACT [] synonym: "decreased thymocyte stimulating factor secretion" EXACT [] synonym: "reduced IL-2 secretion" EXACT [] synonym: "reduced IL2 secretion" EXACT [] synonym: "reduced interleukin II secretion" EXACT [] synonym: "reduced interleukine 2 secretion" EXACT [] synonym: "reduced lymphocyte mitogenic factor secretion" EXACT [] synonym: "reduced Ro-23-6019 secretion" EXACT [] synonym: "reduced Ro-236019 secretion" EXACT [] synonym: "reduced RU 49637 secretion" EXACT [] synonym: "reduced RU-49637 secretion" EXACT [] synonym: "reduced T-cell growth factor secretion" EXACT [] synonym: "reduced T-cell stimulating factor secretion" EXACT [] synonym: "reduced TCGF secretion" EXACT [] synonym: "reduced thymocyte stimulating factor secretion" EXACT [] is_a: MP:0008686 ! abnormal interleukin-2 secretion [Term] id: MP:0008689 name: abnormal interleukin-23 secretion def: "anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells" [MESH:D12.644.276.374.465.759] comment: Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. synonym: "abnormal IL-23 secretion" EXACT [] synonym: "abnormal IL23 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008690 name: increased interleukin-23 secretion def: "increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells" [MESH:D12.644.276.374.465.759] comment: Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. synonym: "increased IL-23 secretion" EXACT [] synonym: "increased IL23 secretion" EXACT [] is_a: MP:0008689 ! abnormal interleukin-23 secretion [Term] id: MP:0008691 name: decreased interleukin-23 secretion def: "reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells" [MESH:D12.644.276.374.465.759] comment: Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. synonym: "decreased IL-23 secretion" EXACT [] synonym: "decreased IL23 secretion" EXACT [] synonym: "reduced IL-23 secretion" EXACT [] synonym: "reduced IL23 secretion" EXACT [] is_a: MP:0008689 ! abnormal interleukin-23 secretion [Term] id: MP:0008692 name: abnormal interleukin-23a secretion def: "anomaly in the production or release of the p19 subunit of interleukin-23" [MESH:D12.644.276.374.465.759.500] synonym: "abnormal IL-23 alpha secretion" EXACT [] synonym: "abnormal IL-23 p19 secretion" EXACT [] synonym: "abnormal IL-23a secretion" EXACT [] synonym: "abnormal IL-23p19 secretion" EXACT [] synonym: "abnormal interleukin-23 alpha secretion" EXACT [] synonym: "abnormal interleukin-23p19 secretion" EXACT [] is_a: MP:0008689 ! abnormal interleukin-23 secretion [Term] id: MP:0008693 name: increased interleukin-23a secretion def: "increase in the production or release of the p19 subunit of interleukin-23" [MESH:D12.644.276.374.465.759.500] synonym: "increased IL-23 alpha secretion" EXACT [] synonym: "increased IL-23 p19 secretion" EXACT [] synonym: "increased IL-23a secretion" EXACT [] synonym: "increased IL-23p19 secretion" EXACT [] synonym: "increased interleukin-23 alpha secretion" EXACT [] synonym: "increased interleukin-23p19 secretion" EXACT [] is_a: MP:0008692 ! abnormal interleukin-23a secretion [Term] id: MP:0008694 name: decreased interleukin-23a secretion def: "reduction in the production or release of the p19 subunit of interleukin-23" [MESH:D12.644.276.374.465.759.500] synonym: "decreased IL-23 alpha secretion" EXACT [] synonym: "decreased IL-23 p19 secretion" EXACT [] synonym: "decreased IL-23a secretion" EXACT [] synonym: "decreased IL-23p19 secretion" EXACT [] synonym: "decreased interleukin-23 alpha secretion" EXACT [] synonym: "decreased interleukin-23p19 secretion" EXACT [] synonym: "reduced IL-23 alpha secretion" EXACT [] synonym: "reduced IL-23 p19 secretion" EXACT [] synonym: "reduced IL-23a secretion" EXACT [] synonym: "reduced IL-23p19 secretion" EXACT [] synonym: "reduced interleukin-23 alpha secretion" EXACT [] synonym: "reduced interleukin-23p19 secretion" EXACT [] is_a: MP:0008692 ! abnormal interleukin-23a secretion [Term] id: MP:0008695 name: abnormal interleukin-3 secretion def: "anomaly in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells" [MESH:D12.644.276.374.410.240.400] synonym: "abnormal colony-stimulating factor 2 alpha secretion" EXACT [] synonym: "abnormal eosinophil-mast cell growth-factor secretion" EXACT [] synonym: "abnormal erythrocyte burst-promoting factor secretion" EXACT [] synonym: "abnormal hematopoietin-2 secretion" EXACT [] synonym: "abnormal IL-3 secretion" EXACT [] synonym: "abnormal IL3 secretion" EXACT [] synonym: "abnormal mast-cell colony-stimulating factor secretion" EXACT [] synonym: "abnormal multipotential colony-stimulating factor secretion" EXACT [] synonym: "abnormal P-cell stimulating factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008696 name: increased interleukin-3 secretion def: "increase in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells" [MESH:D12.644.276.374.410.240.400] synonym: "increased colony-stimulating factor 2 alpha secretion" EXACT [] synonym: "increased eosinophil-mast cell growth-factor secretion" EXACT [] synonym: "increased erythrocyte burst-promoting factor secretion" EXACT [] synonym: "increased hematopoietin-2 secretion" EXACT [] synonym: "increased IL-3 secretion" EXACT [] synonym: "increased IL3 secretion" EXACT [] synonym: "increased mast-cell colony-stimulating factor secretion" EXACT [] synonym: "increased multipotential colony-stimulating factor secretion" EXACT [] synonym: "increased P-cell stimulating factor secretion" EXACT [] is_a: MP:0008695 ! abnormal interleukin-3 secretion [Term] id: MP:0008697 name: decreased interleukin-3 secretion def: "reduction in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells" [MESH:D12.644.276.374.410.240.400] synonym: "decreased colony-stimulating factor 2 alpha secretion" EXACT [] synonym: "decreased eosinophil-mast cell growth-factor secretion" EXACT [] synonym: "decreased erythrocyte burst-promoting factor secretion" EXACT [] synonym: "decreased hematopoietin-2 secretion" EXACT [] synonym: "decreased IL-3 secretion" EXACT [] synonym: "decreased IL3 secretion" EXACT [] synonym: "decreased mast-cell colony-stimulating factor secretion" EXACT [] synonym: "decreased multipotential colony-stimulating factor secretion" EXACT [] synonym: "decreased P-cell stimulating factor secretion" EXACT [] synonym: "reduced colony-stimulating factor 2 alpha secretion" EXACT [] synonym: "reduced eosinophil-mast cell growth-factor secretion" EXACT [] synonym: "reduced erythrocyte burst-promoting factor secretion" EXACT [] synonym: "reduced hematopoietin-2 secretion" EXACT [] synonym: "reduced IL-3 secretion" EXACT [] synonym: "reduced IL3 secretion" EXACT [] synonym: "reduced mast-cell colony-stimulating factor secretion" EXACT [] synonym: "reduced multipotential colony-stimulating factor secretion" EXACT [] synonym: "reduced P-cell stimulating factor secretion" EXACT [] is_a: MP:0008695 ! abnormal interleukin-3 secretion [Term] id: MP:0008698 name: abnormal interleukin-4 secretion def: "anomaly in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504] synonym: "abnormal B cell stimulatory factor-1 secretion" EXACT [] synonym: "abnormal B-cell growth factor-1 secretion" EXACT [] synonym: "abnormal B-cell growth factor-I secretion" EXACT [] synonym: "abnormal B-cell proliferating factor secretion" EXACT [] synonym: "abnormal B-cell stimulating factor-1 secretion" EXACT [] synonym: "abnormal B-cell stimulatory factor 1 secretion" EXACT [] synonym: "abnormal B-cell stimulatory factor-1 secretion" EXACT [] synonym: "abnormal BCGF-1 secretion" EXACT [] synonym: "abnormal Binetrakin secretion" EXACT [] synonym: "abnormal BSF-1 secretion" EXACT [] synonym: "abnormal IL-4 secretion" EXACT [] synonym: "abnormal IL4 secretion" EXACT [] synonym: "abnormal mast cell growth factor-2 secretion" EXACT [] synonym: "abnormal MCGF-2 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008699 name: increased interleukin-4 secretion def: "increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504] synonym: "increased B cell stimulatory factor-1 secretion" EXACT [] synonym: "increased B-cell growth factor-1 secretion" EXACT [] synonym: "increased B-cell growth factor-I secretion" EXACT [] synonym: "increased B-cell proliferating factor secretion" EXACT [] synonym: "increased B-cell stimulating factor-1 secretion" EXACT [] synonym: "increased B-cell stimulatory factor 1 secretion" EXACT [] synonym: "increased B-cell stimulatory factor-1 secretion" EXACT [] synonym: "increased BCGF-1 secretion" EXACT [] synonym: "increased Binetrakin secretion" EXACT [] synonym: "increased BSF-1 secretion" EXACT [] synonym: "increased IL-4 secretion" EXACT [] synonym: "increased IL4 secretion" EXACT [] synonym: "increased mast cell growth factor-2 secretion" EXACT [] synonym: "increased MCGF-2 secretion" EXACT [] is_a: MP:0008698 ! abnormal interleukin-4 secretion [Term] id: MP:0008700 name: decreased interleukin-4 secretion def: "reduction in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504] synonym: "decreased B cell stimulatory factor-1 secretion" EXACT [] synonym: "decreased B-cell growth factor-1 secretion" EXACT [] synonym: "decreased B-cell growth factor-I secretion" EXACT [] synonym: "decreased B-cell proliferating factor secretion" EXACT [] synonym: "decreased B-cell stimulating factor-1 secretion" EXACT [] synonym: "decreased B-cell stimulatory factor 1 secretion" EXACT [] synonym: "decreased B-cell stimulatory factor-1 secretion" EXACT [] synonym: "decreased BCGF-1 secretion" EXACT [] synonym: "decreased Binetrakin secretion" EXACT [] synonym: "decreased BSF-1 secretion" EXACT [] synonym: "decreased IL-4 secretion" EXACT [] synonym: "decreased IL4 secretion" EXACT [] synonym: "decreased mast cell growth factor-2 secretion" EXACT [] synonym: "decreased MCGF-2 secretion" EXACT [] synonym: "reduced B cell stimulatory factor-1 secretion" EXACT [] synonym: "reduced B-cell growth factor-1 secretion" EXACT [] synonym: "reduced B-cell growth factor-I secretion" EXACT [] synonym: "reduced B-cell proliferating factor secretion" EXACT [] synonym: "reduced B-cell stimulating factor-1 secretion" EXACT [] synonym: "reduced B-cell stimulatory factor 1 secretion" EXACT [] synonym: "reduced B-cell stimulatory factor-1 secretion" EXACT [] synonym: "reduced BCGF-1 secretion" EXACT [] synonym: "reduced Binetrakin secretion" EXACT [] synonym: "reduced BSF-1 secretion" EXACT [] synonym: "reduced IL-4 secretion" EXACT [] synonym: "reduced IL4 secretion" EXACT [] synonym: "reduced mast cell growth factor-2 secretion" EXACT [] synonym: "reduced MCGF-2 secretion" EXACT [] is_a: MP:0008698 ! abnormal interleukin-4 secretion [Term] id: MP:0008701 name: abnormal interleukin-5 secretion def: "anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505] synonym: "abnormal B-cell growth factor-II secretion" EXACT [] synonym: "abnormal BCGF-II secretion" EXACT [] synonym: "abnormal eosinophil differentiation factor secretion" EXACT [] synonym: "abnormal IL-5 secretion" EXACT [] synonym: "abnormal IL5 secretion" EXACT [] synonym: "abnormal T-cell replacing factor secretion" EXACT [] synonym: "abnormal T-cell-replacing factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008702 name: increased interleukin-5 secretion def: "increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505] synonym: "increased B-cell growth factor-II secretion" EXACT [] synonym: "increased BCGF-II secretion" EXACT [] synonym: "increased eosinophil differentiation factor secretion" EXACT [] synonym: "increased IL-5 secretion" EXACT [] synonym: "increased IL5 secretion" EXACT [] synonym: "increased T-cell replacing factor secretion" EXACT [] synonym: "increased T-cell-replacing factor secretion" EXACT [] is_a: MP:0008701 ! abnormal interleukin-5 secretion [Term] id: MP:0008703 name: decreased interleukin-5 secretion def: "reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505] synonym: "decreased B-cell growth factor-II secretion" EXACT [] synonym: "decreased BCGF-II secretion" EXACT [] synonym: "decreased eosinophil differentiation factor secretion" EXACT [] synonym: "decreased IL-5 secretion" EXACT [] synonym: "decreased IL5 secretion" EXACT [] synonym: "decreased T-cell replacing factor secretion" EXACT [] synonym: "decreased T-cell-replacing factor secretion" EXACT [] synonym: "reduced B-cell growth factor-II secretion" EXACT [] synonym: "reduced BCGF-II secretion" EXACT [] synonym: "reduced eosinophil differentiation factor secretion" EXACT [] synonym: "reduced IL-5 secretion" EXACT [] synonym: "reduced IL5 secretion" EXACT [] synonym: "reduced T-cell replacing factor secretion" EXACT [] synonym: "reduced T-cell-replacing factor secretion" EXACT [] is_a: MP:0008701 ! abnormal interleukin-5 secretion [Term] id: MP:0008704 name: abnormal interleukin-6 secretion def: "anomaly in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506] synonym: "abnormal B cell stimulatory factor-2 secretion" EXACT [] synonym: "abnormal B-cell differentiation factor secretion" EXACT [] synonym: "abnormal B-cell differentiation factor-2 secretion" EXACT [] synonym: "abnormal B-cell stimulatory factor 2 secretion" EXACT [] synonym: "abnormal B-cell stimulatory factor-2 secretion" EXACT [] synonym: "abnormal BSF-2 secretion" EXACT [] synonym: "abnormal hepatocyte-stimulating factor secretion" EXACT [] synonym: "abnormal hybridoma growth factor secretion" EXACT [] synonym: "abnormal IFN-beta 2 secretion" EXACT [] synonym: "abnormal IL-6 secretion" EXACT [] synonym: "abnormal IL6 secretion" EXACT [] synonym: "abnormal MGI-2 secretion" EXACT [] synonym: "abnormal myeloid differentiation-inducing protein secretion" EXACT [] synonym: "abnormal plasmacytoma growth factor secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008705 name: increased interleukin-6 secretion def: "increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506] synonym: "increased B cell stimulatory factor-2 secretion" EXACT [] synonym: "increased B-cell differentiation factor secretion" EXACT [] synonym: "increased B-cell differentiation factor-2 secretion" EXACT [] synonym: "increased B-cell stimulatory factor 2 secretion" EXACT [] synonym: "increased B-cell stimulatory factor-2 secretion" EXACT [] synonym: "increased BSF-2 secretion" EXACT [] synonym: "increased hepatocyte-stimulating factor secretion" EXACT [] synonym: "increased hybridoma growth factor secretion" EXACT [] synonym: "increased IFN-beta 2 secretion" EXACT [] synonym: "increased IL-6 secretion" EXACT [] synonym: "increased IL6 secretion" EXACT [] synonym: "increased MGI-2 secretion" EXACT [] synonym: "increased myeloid differentiation-inducing protein secretion" EXACT [] synonym: "increased plasmacytoma growth factor secretion" EXACT [] is_a: MP:0008704 ! abnormal interleukin-6 secretion [Term] id: MP:0008706 name: decreased interleukin-6 secretion def: "reduction in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506] synonym: "decreased B cell stimulatory factor-2 secretion" EXACT [] synonym: "decreased B-cell differentiation factor secretion" EXACT [] synonym: "decreased B-cell differentiation factor-2 secretion" EXACT [] synonym: "decreased B-cell stimulatory factor 2 secretion" EXACT [] synonym: "decreased B-cell stimulatory factor-2 secretion" EXACT [] synonym: "decreased BSF-2 secretion" EXACT [] synonym: "decreased hepatocyte-stimulating factor secretion" EXACT [] synonym: "decreased hybridoma growth factor secretion" EXACT [] synonym: "decreased IFN-beta 2 secretion" EXACT [] synonym: "decreased IL-6 secretion" EXACT [] synonym: "decreased IL6 secretion" EXACT [] synonym: "decreased MGI-2 secretion" EXACT [] synonym: "decreased myeloid differentiation-inducing protein secretion" EXACT [] synonym: "decreased plasmacytoma growth factor secretion" EXACT [] synonym: "reduced B cell stimulatory factor-2 secretion" EXACT [] synonym: "reduced B-cell differentiation factor secretion" EXACT [] synonym: "reduced B-cell differentiation factor-2 secretion" EXACT [] synonym: "reduced B-cell stimulatory factor 2 secretion" EXACT [] synonym: "reduced B-cell stimulatory factor-2 secretion" EXACT [] synonym: "reduced BSF-2 secretion" EXACT [] synonym: "reduced hepatocyte-stimulating factor secretion" EXACT [] synonym: "reduced hybridoma growth factor secretion" EXACT [] synonym: "reduced IFN-beta 2 secretion" EXACT [] synonym: "reduced IL-6 secretion" EXACT [] synonym: "reduced IL6 secretion" EXACT [] synonym: "reduced MGI-2 secretion" EXACT [] synonym: "reduced myeloid differentiation-inducing protein secretion" EXACT [] synonym: "reduced plasmacytoma growth factor secretion" EXACT [] is_a: MP:0008704 ! abnormal interleukin-6 secretion [Term] id: MP:0008707 name: abnormal interleukin-7 secretion def: "anomaly in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation" [MESH:D12.644.276.374.465.507] synonym: "abnormal IL-7 secretion" EXACT [] synonym: "abnormal IL7 secretion" EXACT [] synonym: "abnormal lymphopoietin-1 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008708 name: increased interleukin-7 secretion def: "increase in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation" [MESH:D12.644.276.374.465.507] synonym: "increased IL-7 secretion" EXACT [] synonym: "increased IL7 secretion" EXACT [] synonym: "increased lymphopoietin-1 secretion" EXACT [] is_a: MP:0008707 ! abnormal interleukin-7 secretion [Term] id: MP:0008709 name: decreased interleukin-7 secretion def: "reduction in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation" [MESH:D12.644.276.374.465.507] synonym: "decreased IL-7 secretion" EXACT [] synonym: "decreased IL7 secretion" EXACT [] synonym: "decreased lymphopoietin-1 secretion" EXACT [] synonym: "reduced IL-7 secretion" EXACT [] synonym: "reduced IL7 secretion" EXACT [] synonym: "reduced lymphopoietin-1 secretion" EXACT [] is_a: MP:0008707 ! abnormal interleukin-7 secretion [Term] id: MP:0008710 name: abnormal interleukin-9 secretion def: "anomaly in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509] synonym: "abnormal IL-9 secretion" EXACT [] synonym: "abnormal IL9 secretion" EXACT [] synonym: "abnormal P40 T-Cell Growth Factor secretion" EXACT [] synonym: "abnormal T-Cell Growth Factor P40 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0008711 name: increased interleukin-9 secretion def: "increase in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509] synonym: "increased IL-9 secretion" EXACT [] synonym: "increased IL9 secretion" EXACT [] synonym: "increased P40 T-Cell Growth Factor secretion" EXACT [] synonym: "increased T-Cell Growth Factor P40 secretion" EXACT [] is_a: MP:0008710 ! abnormal interleukin-9 secretion [Term] id: MP:0008712 name: decreased interleukin-9 secretion def: "reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509] synonym: "decreased IL-9 secretion" EXACT [] synonym: "decreased IL9 secretion" EXACT [] synonym: "decreased P40 T-Cell Growth Factor secretion" EXACT [] synonym: "decreased T-Cell Growth Factor P40 secretion" EXACT [] synonym: "reduced IL-9 secretion" EXACT [] synonym: "reduced IL9 secretion" EXACT [] synonym: "reduced P40 T-Cell Growth Factor secretion" EXACT [] synonym: "reduced T-Cell Growth Factor P40 secretion" EXACT [] is_a: MP:0008710 ! abnormal interleukin-9 secretion [Term] id: MP:0008713 name: abnormal cytokine level def: "deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells" [ISBN:0-8153-1691-7, MGI:csmith] is_a: MP:0002723 ! abnormal immune serum protein physiology is_a: MP:0008835 ! abnormal intercellular signaling peptide or protein level [Term] id: MP:0008714 name: lung carcinoma def: "a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002038 ! carcinoma is_a: MP:0008014 ! increased lung tumor incidence [Term] id: MP:0008715 name: lung small cell carcinoma def: "an anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm" [MESH:C04.557.465.625.650.240.390] is_a: MP:0008714 ! lung carcinoma [Term] id: MP:0008716 name: lung non-small cell carcinoma def: "a heterogeneous aggregate of at least three distinct histological types of lung cancer" [MESH:C04.557.470.200.300] is_a: MP:0008714 ! lung carcinoma [Term] id: MP:0008717 name: lung squamous cell carcinoma def: "a lung carcinoma derived from stratified squamous epithelium" [MGI:csmith] synonym: "lung SCC" EXACT [] is_a: MP:0004207 ! squamous cell carcinoma is_a: MP:0008716 ! lung non-small cell carcinoma [Term] id: MP:0008718 name: lung large cell carcinoma def: "a bronchogenic tumor of undifferentiated (anaplastic) cells of large size" [MGI:csmith] is_a: MP:0008716 ! lung non-small cell carcinoma [Term] id: MP:0008719 name: impaired neutrophil recruitment def: "reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions" [MGI:csmith] is_a: MP:0002463 ! abnormal neutrophil physiology [Term] id: MP:0008720 name: impaired neutrophil chemotaxis def: "defect in the movement of neutrophils guided by a specific chemical concentration gradient" [MGI:csmith] synonym: "decreased neutrophil migration" EXACT [] synonym: "impaired neutrophil migration" EXACT [] synonym: "reduced neutrophil migration" EXACT [] is_a: MP:0002463 ! abnormal neutrophil physiology is_a: MP:0011518 ! abnormal cell chemotaxis [Term] id: MP:0008721 name: abnormal chemokine level def: "deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes" [MESH:D12.644.276.374.200] is_a: MP:0008713 ! abnormal cytokine level [Term] id: MP:0008722 name: abnormal chemokine secretion def: "anomaly in the production or cellular release of any of the class of pro-inflammatory cytokines that attract and activate leukocytes" [MESH:D12.644.276.374.200] is_a: MP:0003009 ! abnormal cytokine secretion [Term] id: MP:0008723 name: impaired eosinophil recruitment def: "reduced diffusion or accumulation of eosinophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions" [MGI:csmith] synonym: "decreased eosinophil recruitment" EXACT [] is_a: MP:0002465 ! abnormal eosinophil physiology [Term] id: MP:0008724 name: impaired eosinophil chemotaxis def: "defect in the movement of eosinophils guided by a specific chemical concentration gradient" [MGI:csmith] synonym: "decreased eosinophil migration" EXACT [] synonym: "impaired eosinophil migration" EXACT [] synonym: "reduced eosinophil migration" EXACT [] is_a: MP:0002465 ! abnormal eosinophil physiology is_a: MP:0011518 ! abnormal cell chemotaxis [Term] id: MP:0008725 name: enlarged heart atrium def: "increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation" [MESH:A07.541.358] is_a: MP:0003105 ! abnormal heart atrium morphology [Term] id: MP:0008726 name: enlarged heart left atrium alt_id: Fyler:3011 def: "increased size of the left upper chamber of the heart" [MGI:csmith] subset: CvDC_Terms synonym: "enlarged left atrium" EXACT [] synonym: "giant left atrium" EXACT [] is_a: MP:0003923 ! abnormal heart left atrium morphology is_a: MP:0008725 ! enlarged heart atrium [Term] id: MP:0008727 name: enlarged heart right atrium alt_id: Fyler:1771 def: "increased size of the right upper chamber of the heart" [MGI:csmith] subset: CvDC_Terms synonym: "enlarged right atrium" EXACT [] synonym: "giant right atrium" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology is_a: MP:0008725 ! enlarged heart atrium [Term] id: MP:0008728 name: increased memory B cell number def: "greater number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149, MGI:csmith] is_a: MP:0008093 ! abnormal memory B cell number is_a: MP:0008210 ! increased mature B cell number [Term] id: MP:0008729 name: decreased memory B cell number def: "reduced number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin" [CL:0000787, ISBN:0781735149, MGI:csmith] is_a: MP:0008093 ! abnormal memory B cell number is_a: MP:0008211 ! decreased mature B cell number [Term] id: MP:0008730 name: fused phalanges def: "anomaly of the long bones of the digits resulting in some or all the bones being joined together" [MGI:llw2] subset: Sanger_Terms synonym: "fused digits" BROAD [] is_a: MP:0000564 ! syndactyly is_a: MP:0005306 ! abnormal phalanx morphology [Term] id: MP:0008731 name: abnormal hair shaft melanin granule morphology def: "any structural anomaly of pigment polymers in the hair shaft" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation is_a: MP:0003809 ! abnormal hair shaft morphology is_a: MP:0005075 ! abnormal melanosome morphology [Term] id: MP:0008732 name: reduced hair shaft melanin granule number def: "the number of pigment polymers in the hair shaft is less than normal" [MGI:llw2] is_a: MP:0008731 ! abnormal hair shaft melanin granule morphology [Term] id: MP:0008733 name: abnormal hair shaft melanin granule distribution def: "disruption in the regular arrangement of pigment polymers in the hair shaft" [MGI:llw2] is_a: MP:0008731 ! abnormal hair shaft melanin granule morphology [Term] id: MP:0008734 name: decreased susceptibility to endotoxin shock def: "less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death" [MGI:tmeehan] synonym: "decreased response to LPS induced shock" NARROW [] synonym: "decreased sensitivity to endotoxic shock" EXACT [] synonym: "decreased sensitivity to endotoxin shock" EXACT [] synonym: "increased resistance to endotoxin shock" EXACT [] is_a: MP:0005087 ! decreased acute inflammation [Term] id: MP:0008735 name: increased susceptibility to endotoxin shock def: "more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death" [MGI:tmeehan] synonym: "decreased resistance to endotoxic shock" EXACT [] synonym: "decreased resistance to endotoxin shock" EXACT [] synonym: "increased response to LPS induced shock" NARROW [] synonym: "increased sensitivity to endotoxic shock" EXACT [] synonym: "increased sensitivity to endotoxin shock" EXACT [] synonym: "increased susceptibility to endotoxic shock" EXACT [] is_a: MP:0005088 ! increased acute inflammation [Term] id: MP:0008736 name: micromelia def: "disproportionately short or small limbs" [MGI:llw2] synonym: "nanomelia" EXACT [] is_a: MP:0000547 ! short limbs [Term] id: MP:0008737 name: abnormal spleen physiology def: "any functional anomaly of the organ that filters blood and stores red corpuscles and platelets" [MGI:llw2] is_a: MP:0003762 ! abnormal immune organ physiology [Term] id: MP:0008738 name: abnormal liver iron level def: "anomaly in the amount of iron present in the liver tissue" [MGI:smb] synonym: "abnormal hepatic iron level" EXACT [] synonym: "abnormal hepatic iron load" EXACT [] synonym: "abnormal liver iron load" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0001770 ! abnormal iron level [Term] id: MP:0008739 name: abnormal spleen iron level def: "anomaly in the amount of iron present in the spleen tissue" [MGI:smb] synonym: "abnormal spleen iron load" EXACT [] synonym: "abnormal splenic iron level" EXACT [] synonym: "abnormal splenic iron load" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology is_a: MP:0001770 ! abnormal iron level [Term] id: MP:0008740 name: abnormal intestinal iron level def: "anomaly in the amount of iron present in the large or small intestinal tissue" [MGI:smb] is_a: MP:0000477 ! abnormal intestine morphology is_a: MP:0001770 ! abnormal iron level [Term] id: MP:0008741 name: abnormal heart iron level def: "anomaly in the amount of iron present in the heart tissue" [MGI:smb] synonym: "abnormal cardiac iron level" EXACT [] is_a: MP:0000266 ! abnormal heart morphology is_a: MP:0001770 ! abnormal iron level [Term] id: MP:0008742 name: abnormal kidney iron level def: "anomaly in the amount of iron present in the kidney tissue" [MGI:smb] synonym: "abnormal renal iron level" EXACT [] is_a: MP:0001770 ! abnormal iron level is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0008743 name: decreased liver iron level def: "reduction in the amount of iron present in the liver tissue" [MGI:smb] synonym: "decreased hepatic iron level" EXACT [] synonym: "decreased hepatic iron load" EXACT [] synonym: "decreased liver iron load" EXACT [] synonym: "reduced hepatic iron level" EXACT [] synonym: "reduced liver iron level" EXACT [] is_a: MP:0008738 ! abnormal liver iron level [Term] id: MP:0008744 name: abnormal B cell anergy def: "any anomaly in the process contributing to anergy in B cells, a state of functional inactivation which is part of B cell tolerance induction" [GO:0002515] synonym: "abnormal B lymphocyte anergy" EXACT [] synonym: "abnormal B-cell anergy" EXACT [] synonym: "abnormal B-lymphocyte anergy" EXACT [] is_a: MP:0005004 ! abnormal lymphocyte anergy [Term] id: MP:0008745 name: abnormal central B cell anergy def: "any anomaly of the processes of B cell anergy that occur in the bone marrow" [GO:0002341] synonym: "abnormal central B lymphocyte anergy" EXACT [] synonym: "abnormal central B-cell anergy" EXACT [] synonym: "abnormal central B-lymphocyte anergy" EXACT [] is_a: MP:0008744 ! abnormal B cell anergy [Term] id: MP:0008746 name: abnormal peripheral B cell anergy def: "any anomaly of the processes of B cell anergy that occur outside the bone marrow" [GO:0002453] synonym: "abnormal peripheral B lymphocyte anergy" EXACT [] synonym: "abnormal peripheral B-cell anergy" EXACT [] synonym: "abnormal peripheral B-lymphocyte anergy" EXACT [] is_a: MP:0008744 ! abnormal B cell anergy [Term] id: MP:0008747 name: abnormal T cell anergy def: "any anomaly in the process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction" [GO:0002870] synonym: "abnormal T lymphocyte anergy" EXACT [] synonym: "abnormal T-cell anergy" EXACT [] synonym: "abnormal T-lymphocyte anergy" EXACT [] is_a: MP:0005004 ! abnormal lymphocyte anergy [Term] id: MP:0008748 name: abnormal central T cell anergy def: "any anomaly of the processes of T cell anergy that occur in the thymus" [MGI:tmeehan] synonym: "abnormal central T lymphocyte anergy" EXACT [] synonym: "abnormal central T-cell anergy" EXACT [] synonym: "abnormal central T-lymphocyte anergy" EXACT [] is_a: MP:0008747 ! abnormal T cell anergy [Term] id: MP:0008749 name: abnormal peripheral T cell anergy def: "any anomaly of the processes of T cell anergy that occur outside the thymus" [MGI:tmeehan] synonym: "abnormal peripheral T lymphocyte anergy" EXACT [] synonym: "abnormal peripheral T-cell anergy" EXACT [] synonym: "abnormal peripheral T-lymphocyte anergy" EXACT [] is_a: MP:0008747 ! abnormal T cell anergy [Term] id: MP:0008750 name: abnormal interferon level def: "deviation from the normal levels of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions" [MESH:D12.644.276.374.440] is_a: MP:0008713 ! abnormal cytokine level [Term] id: MP:0008751 name: abnormal interleukin level def: "deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465] is_a: MP:0008713 ! abnormal cytokine level [Term] id: MP:0008752 name: abnormal tumor necrosis factor level def: "deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [MESH:D12.644.276.374.500.800] synonym: "abnormal cachectin level" EXACT [] synonym: "abnormal TNF level" EXACT [] synonym: "abnormal TNFA level" EXACT [] synonym: "abnormal tumor necrosis factor alpha level" EXACT [] is_a: MP:0008713 ! abnormal cytokine level [Term] id: MP:0008753 name: abnormal osteocyte morphology def: "any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi" [MESH:A.11.329.629.500] is_a: MP:0004986 ! abnormal osteoblast morphology [Term] id: MP:0008754 name: abnormal T cell receptor V(D)J recombination def: "any anomaly in the process by which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus" [GO:0033153, MGI:tmeehan] synonym: "abnormal T cell receptor V(D)J joining" EXACT [] synonym: "abnormal T cell receptor V(D)J rearrangement" EXACT [] synonym: "abnormal T cell receptor V-D-J joining" EXACT [] synonym: "abnormal T cell receptor V-D-J rearrangement" EXACT [] synonym: "abnormal T cell receptor V-D-J recombination" EXACT [] synonym: "abnormal T cell receptor V-J joining" EXACT [] synonym: "abnormal T cell receptor V-J rearrangement" EXACT [] synonym: "abnormal T cell receptor V-J recombination" EXACT [] synonym: "abnormal T-cell receptor V(D)J recombination" EXACT [] synonym: "abnormal TCR V(D)J recombination" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0008755 name: abnormal immunoglobulin V(D)J recombination def: "any anomaly in the process by which immunoglobulin V, D, and J or V and J gene segments, depending on the specific locus, are recombined within a single locus" [GO:0033152, MGI:tmeehan] synonym: "abnormal immunoglobulin V(D)J joining" EXACT [] synonym: "abnormal immunoglobulin V(D)J rearrangement" EXACT [] synonym: "abnormal immunoglobulin V-D-J joining" EXACT [] synonym: "abnormal immunoglobulin V-D-J rearrangement" EXACT [] synonym: "abnormal immunoglobulin V-D-J recombination" EXACT [] synonym: "abnormal immunoglobulin V-J joining" EXACT [] synonym: "abnormal immunoglobulin V-J rearrangement" EXACT [] synonym: "abnormal immunoglobulin V-J recombination" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation [Term] id: MP:0008756 name: abnormal T cell receptor alpha chain V-J recombination def: "any anomaly in the process by which V and J gene segments of the T cell receptor alpha chain are recombined" [MGI:tmeehan] synonym: "abnormal T cell receptor alpha chain V-J joining" EXACT [] synonym: "abnormal T cell receptor alpha chain V-J rearrangement" EXACT [] is_a: MP:0008754 ! abnormal T cell receptor V(D)J recombination [Term] id: MP:0008757 name: abnormal T cell receptor gamma chain V-J recombination def: "any anomaly in the process by which V and J gene segments of the T cell receptor gamma chain are recombined" [MGI:tmeehan] synonym: "abnormal T cell receptor gamma chain V-J joining" EXACT [] synonym: "abnormal T cell receptor gamma chain V-J rearrangement" EXACT [] is_a: MP:0008754 ! abnormal T cell receptor V(D)J recombination [Term] id: MP:0008758 name: abnormal T cell receptor beta chain V(D)J recombination def: "any anomaly in the process by which V, D, and J segments of the T cell receptor beta chain are recombined" [MGI:tmeehan] synonym: "abnormal T cell receptor beta chain V(D)J joining" EXACT [] synonym: "abnormal T cell receptor beta chain V(D)J rearrangement" EXACT [] synonym: "abnormal T cell receptor beta chain V-D-J joining" EXACT [] synonym: "abnormal T cell receptor beta chain V-D-J rearrangement" EXACT [] synonym: "abnormal T cell receptor beta chain V-D-J recombination" EXACT [] synonym: "abnormal T-cell receptor beta chain V(D)J recombination" EXACT [] synonym: "abnormal TCR beta chain V(D)J recombination" EXACT [] is_a: MP:0008754 ! abnormal T cell receptor V(D)J recombination [Term] id: MP:0008759 name: abnormal T cell receptor delta chain V(D)J recombination def: "any anomaly in the process by which V, D, and J segments of the T cell receptor delta chain are recombined" [MGI:tmeehan] synonym: "abnormal T cell receptor delta chain V(D)J joining" EXACT [] synonym: "abnormal T cell receptor delta chain V(D)J rearrangement" EXACT [] synonym: "abnormal T cell receptor delta chain V-D-J joining" EXACT [] synonym: "abnormal T cell receptor delta chain V-D-J rearrangement" EXACT [] synonym: "abnormal T cell receptor delta chain V-D-J recombination" EXACT [] synonym: "abnormal T-cell receptor delta chain V(D)J recombination" EXACT [] synonym: "abnormal TCR delta chain V(D)J recombination" EXACT [] is_a: MP:0008754 ! abnormal T cell receptor V(D)J recombination [Term] id: MP:0008760 name: abnormal immunoglobulin heavy chain V(D)J recombination def: "any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined" [MGI:tmeehan] synonym: "abnormal immunoglobulin heavy chain V(D)J joining" EXACT [] synonym: "abnormal immunoglobulin heavy chain V(D)J rearrangement" EXACT [] synonym: "abnormal immunoglobulin heavy chain V-D-J joining" EXACT [] synonym: "abnormal immunoglobulin heavy chain V-D-J rearrangement" EXACT [] synonym: "abnormal immunoglobulin heavy chain V-D-J recombination" EXACT [] is_a: MP:0008755 ! abnormal immunoglobulin V(D)J recombination [Term] id: MP:0008761 name: abnormal immunoglobulin light chain V-J recombination def: "any anomaly in the process by which V and J gene segments of the immunoglobulin light chain are recombined" [MGI:tmeehan] synonym: "abnormal immunoglobulin light chain V-J joining" EXACT [] synonym: "abnormal immunoglobulin light chain V-J rearrangement" EXACT [] is_a: MP:0008755 ! abnormal immunoglobulin V(D)J recombination [Term] id: MP:0008762 name: embryonic lethality def: "death of an animal within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith] comment: Note that a term with the former name embryonic lethality exists as MP:0002080. In many species, the terms prenatal lethality and embryonic lethality are used interchangeably. However, this is not technically correct and we have modified this ontology to define the prenatal period to include the embryonic stages distinctly from the fetal stages. The names embryonic lethality and embryonic death have been retained as a narrow synonyms for the prenatal lethality term to aid in searching for those species that may use these terms as synonyms. subset: Sanger_Terms synonym: "embryonic death" EXACT [] is_a: MP:0002080 ! prenatal lethality [Term] id: MP:0008763 name: abnormal mast cell degranulation def: "abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell" [GO:0043303, MGI:tmeehan] synonym: "abnormal mast cell granule exocytosis" EXACT [] is_a: MP:0002423 ! abnormal mast cell physiology [Term] id: MP:0008764 name: increased mast cell degranulation def: "increase in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell" [GO:0043303, MGI:tmeehan] synonym: "increased mast cell granule exocytosis" EXACT [] is_a: MP:0008763 ! abnormal mast cell degranulation [Term] id: MP:0008765 name: decreased mast cell degranulation def: "reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell" [GO:0043303, MGI:tmeehan] synonym: "decreased mast cell granule exocytosis" EXACT [] synonym: "reduced mast cell degranulation" EXACT [] synonym: "reduced mast cell granule exocytosis" EXACT [] is_a: MP:0008763 ! abnormal mast cell degranulation [Term] id: MP:0008766 name: abnormal B cell receptor editing def: "any anomaly in the process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor" [GO:0002452, MGI:tmeehan] synonym: "abnormal B lymphocyte receptor editing" EXACT [] synonym: "abnormal B-cell receptor editing" EXACT [] synonym: "abnormal B-lymphocyte receptor editing" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation [Term] id: MP:0008767 name: abnormal hair medullary septa cells def: "septa-forming cells of hair medulla are abnormal in size or arrangement" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0003812 ! abnormal hair medulla [Term] id: MP:0008768 name: abnormal hair medulla air spaces def: "air spaces between septa-forming cells of hair medulla are larger or smaller than normal" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0003812 ! abnormal hair medulla [Term] id: MP:0008769 name: abnormal plasmacytoid dendritic cell physiology def: "any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance" [MGI:csmith] is_a: MP:0002376 ! abnormal dendritic cell physiology [Term] id: MP:0008770 name: decreased survivor rate def: "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2] comment: This term is used in conjunction with other lethality terms when the lethality is only partially expressed. For example, use this term when some individuals of a defined population die as embryos, neonates or by weaning, with some percentage of individuals surviving the lethal phase and achieving a normal life span. subset: Sanger_Terms synonym: "decreased survival rate" EXACT [] synonym: "low survival rate" EXACT [] synonym: "low survivor rate" EXACT [] synonym: "reduced survival rate" EXACT [] synonym: "reduced survivor rate" EXACT [] synonym: "reduced viability" RELATED [] is_a: MP:0010831 ! partial lethality [Term] id: MP:0008771 name: elongated vertebral column def: "increased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:brs, MGI:csmith] synonym: "elongated spinal axis" EXACT [] synonym: "elongated spinal column" EXACT [] synonym: "long spinal axis" EXACT [] synonym: "long spinal column" EXACT [] is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0008772 name: increased heart ventricle size def: "increased average size of the heart ventricles compared to the average for a particular population" [MGI:rbabiuk] synonym: "enlarged heart ventricle" RELATED [] is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0008775 name: abnormal heart ventricle pressure def: "any anomaly in the pressure within a cardiac ventricle" [MESH:G09.330.553.660.937] comment: Ventricular pressure waveforms can be measured in the beating heart by catheterization or estimated using imaging techniques (e.g., Doppler echocardiography). The information is useful in evaluating the function of the myocardium, cardiac valves and pericardium, particularly with simultaneous measurement of other (e.g., aortic or atrial) pressures. synonym: "abnormal cardiac ventricular pressure" EXACT [] synonym: "abnormal heart intraventricular pressure" EXACT [] synonym: "abnormal heart ventricular pressure" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0008776 name: increased right ventricle peak pressure def: "increase in the difference between right ventricular systolic and diastolic pressures" [MGI:csmith] synonym: "increased right ventricular peak pressure" EXACT [] synonym: "increased RVPP" EXACT [] synonym: "right ventricular pulse pressure" EXACT [] is_a: MP:0010755 ! abnormal heart right ventricle pressure [Term] id: MP:0008777 name: increased right ventricle diastolic pressure def: "increase in the pressure of the right ventricle between heart beats when the heart is relaxed" [MGI:csmith] synonym: "increased right ventricular diastolic pressure" EXACT [] synonym: "increased RVP" EXACT [] is_a: MP:0010755 ! abnormal heart right ventricle pressure [Term] id: MP:0008778 name: abnormal lymphangiogenesis def: "any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels" [MESH:G07.574.500.325.377.500] comment: Do not use for the initial specification of lymphatic vessels in early development; use for the remodeling of pre-existing lymphatic vessels. This term is similar to angiogenesis for blood vessel remodeling. is_a: MP:0001879 ! abnormal lymphatic vessel morphology [Term] id: MP:0008779 name: abnormal maternal behavior def: "any response from the mother or attending female related to the ability of young to thrive" [MGI:llw2] is_a: MP:0002068 ! abnormal parental behavior [Term] id: MP:0008780 name: increased pancreatic acinar cell carcinoma incidence def: "greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period" [MGI:csmith] synonym: "acinar carcinoma" RELATED [] synonym: "pancreatic ACC" EXACT [] synonym: "pancreatic acinar carcinoma" EXACT [] synonym: "pancreatic tumor" BROAD [] is_a: MP:0002038 ! carcinoma is_a: MP:0009153 ! increased pancreas tumor incidence [Term] id: MP:0008781 name: abnormal B cell apoptosis def: "change in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith] synonym: "abnormal B lymphocyte apoptosis" EXACT [] synonym: "abnormal B-cell apoptosis" EXACT [] synonym: "abnormal B-lymphocyte apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0008782 name: increased B cell apoptosis def: "increase in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith] synonym: "increased B lymphocyte apoptosis" EXACT [] synonym: "increased B-cell apoptosis" EXACT [] synonym: "increased B-lymphocyte apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0008781 ! abnormal B cell apoptosis [Term] id: MP:0008783 name: decreased B cell apoptosis def: "reduction in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith] synonym: "decreased B lymphocyte apoptosis" EXACT [] synonym: "decreased B-cell apoptosis" EXACT [] synonym: "decreased B-lymphocyte apoptosis" EXACT [] synonym: "reduced B lymphocyte apoptosis" EXACT [] synonym: "reduced B-cell apoptosis" EXACT [] synonym: "reduced B-lymphocyte apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0008781 ! abnormal B cell apoptosis [Term] id: MP:0008784 name: craniorachischisis def: "congenital fissure of the skull and vertebral column" [MGI:smb] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0008785 name: abnormal sternal manubrium morphology def: "any structural anomaly of the cranial most segment of the sternum" [MGI:smb] synonym: "sternal manubrium dysplasia" EXACT [] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0008786 name: abnormal hindgut morphology def: "any structural anomaly of the caudal portion of the primitive digestive tube of the embryo" [MGI:llw2] synonym: "hindgut dysplasia" RELATED [] is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0008787 name: abnormal tailgut morphology def: "any structural anomaly of the extension of the hindgut of the primitive digestive tube of the embryo, caudal to the location of the anal opening" [MGI:llw2] synonym: "abnormal postanal gut morphology" EXACT [] is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0008788 name: abnormal fetal cardiomyocyte morphology def: "any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [PMID:17429040] synonym: "abnormal cardiomyoblast morphology" EXACT [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0008789 name: abnormal olfactory epithelium morphology alt_id: MP:0006091 def: "any structural anomaly of the epithelial cells that line the interior of the nose" [MGI:smb] synonym: "abnormal nasal epithelium morphology" EXACT [] synonym: "olfactory epithelium dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0005499 ! abnormal olfactory system morphology [Term] id: MP:0008790 name: abnormal NK cell degranulation def: "anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells" [MGI:brs] is_a: MP:0011719 ! abnormal natural killer cell mediated cytotoxicity [Term] id: MP:0008791 name: decreased NK cell degranulation def: "reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells" [MGI:brs] synonym: "reduced NK cell degranulation" EXACT [] is_a: MP:0008790 ! abnormal NK cell degranulation [Term] id: MP:0008792 name: increased NK cell degranulation def: "increase in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells" [MGI:brs] is_a: MP:0008790 ! abnormal NK cell degranulation [Term] id: MP:0008793 name: abnormal lens epithelium apoptosis def: "anomaly in the number of lens epithelial cells undergoing programmed cell death" [MGI:csmith] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0008794 name: increased lens epithelium apoptosis def: "increase in the number of lens epithelial cells undergoing programmed cell death" [MGI:csmith] is_a: MP:0006042 ! increased apoptosis is_a: MP:0008793 ! abnormal lens epithelium apoptosis [Term] id: MP:0008795 name: abnormal lens fiber apoptosis def: "anomaly in the number of lens fibers cells undergoing programmed cell death" [MGI:csmith] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0008796 name: increased lens fiber apoptosis def: "increase in the number of lens fibers cells undergoing programmed cell death" [MGI:csmith] is_a: MP:0006042 ! increased apoptosis is_a: MP:0008795 ! abnormal lens fiber apoptosis [Term] id: MP:0008797 name: facial cleft def: "a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face" [MGI:csmith] synonym: "prosopoanoschisis" EXACT [] synonym: "split face malformation" EXACT [] synonym: "split-face malformation" EXACT [] is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0008798 name: lateral facial cleft def: "presence of a primitive oral fissure (macrostomia) that extends into the anlage region of the ears, between the 1st and 2nd pharyngeal arches" [MGI:csmith] synonym: "transverse facial cleft" EXACT [] is_a: MP:0008797 ! facial cleft [Term] id: MP:0008799 name: oblique facial cleft def: "presence of a facial fissure that runs from the lower lid edge to the lower edge of the nasal opening that results from a deficient fusion of the epithelium of the lacrimonasal duct" [MGI:csmith] is_a: MP:0008797 ! facial cleft [Term] id: MP:0008800 name: increased small intestinal crypt cell apoptosis def: "increase in the number of small intestinal crypt cells undergoing programmed cell death" [MGI:csmith] is_a: MP:0006042 ! increased apoptosis is_a: MP:0010156 ! abnormal small intestinal crypt cell physiology [Term] id: MP:0008801 name: abnormal erythroid progenitor cell morphology def: "any structural anomaly of a progenitor cell committed to the erythroid lineage" [CL:0000038] synonym: "abnormal BFU-E morphology" RELATED [] synonym: "abnormal blast forming unit erythroid morphology" RELATED [] synonym: "abnormal burst forming unit erythroid morphology" RELATED [] synonym: "abnormal CFU-E morphology" RELATED [] synonym: "abnormal colony forming unit erythroid morphology" RELATED [] synonym: "abnormal erythroid stem cell morphology" EXACT [] is_a: MP:0000245 ! abnormal erythropoiesis is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0008802 name: abnormal intestinal smooth muscle morphology def: "any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine" [MGI:csmith] synonym: "intestinal smooth muscle dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology is_a: MP:0000767 ! abnormal smooth muscle morphology [Term] id: MP:0008803 name: abnormal placental labyrinth vasculature morphology def: "any structural anomaly of blood vessels of the layer of the placenta where embryonic and maternal blood exchange nutrients and waste products" [MGI:smb] synonym: "placental labyrinth vasculature dysplasia" EXACT [] is_a: MP:0001716 ! abnormal placenta labyrinth morphology is_a: MP:0003231 ! abnormal placenta vasculature [Term] id: MP:0008804 name: abnormal circulating amylase level def: "any anomaly in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood" [ISBN:0-683-40008-8, MESH:D08.811.277.450.066] synonym: "abnormal circulating diastase level" EXACT [MESH:D08.811.277.450.066] is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0008805 name: decreased circulating amylase level def: "reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood" [ISBN:0-683-40008-8, MESH:D08.811.277.450.066, MGI:brs] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased circulating diastase level" EXACT [MESH:D08.811.277.450.066] synonym: "reduced circulating amylase level" EXACT [] is_a: MP:0008804 ! abnormal circulating amylase level [Term] id: MP:0008806 name: increased circulating amylase level def: "greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood" [ISBN:0-683-40008-8, MESH:D08.811.277.450.066] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased circulating diastase level" EXACT [MESH:D08.811.277.450.066] is_a: MP:0008804 ! abnormal circulating amylase level [Term] id: MP:0008807 name: increased liver iron level def: "increase in the amount of iron present in the liver tissue" [MGI:smb] synonym: "increased hepatic iron level" EXACT [] synonym: "increased hepatic iron load" EXACT [] synonym: "increased liver iron load" EXACT [] synonym: "liver iron deposits" EXACT [] is_a: MP:0008738 ! abnormal liver iron level [Term] id: MP:0008808 name: decreased spleen iron level def: "reduction in the amount of iron present in the spleen tissue" [MGI:smb] synonym: "decreased spleen iron load" EXACT [] synonym: "decreased splenic iron level" EXACT [] synonym: "reduced spleen iron level" RELATED [] synonym: "reduced splenic iron load" RELATED [] is_a: MP:0008739 ! abnormal spleen iron level [Term] id: MP:0008809 name: increased spleen iron level def: "increase in the amount of iron present in the spleen tissue" [MGI:smb] synonym: "increased spleen iron load" EXACT [] synonym: "increased splenic iron level" EXACT [] synonym: "increased splenic iron load" EXACT [] synonym: "spleen iron deposits" EXACT [] is_a: MP:0008739 ! abnormal spleen iron level [Term] id: MP:0008810 name: increased circulating iron level def: "elevation in the concentration of iron in the blood" [MGI:smb] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyperferremia" EXACT [] is_a: MP:0004152 ! abnormal circulating iron level [Term] id: MP:0008811 name: abnormal brain iron level def: "any anomaly in the amount of iron present in the brain tissue" [MGI:smb] is_a: MP:0001770 ! abnormal iron level is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0008812 name: abnormal rostrocaudal coat patterning def: "irregular or unusual pigmentation pattern of the rostral-to-caudal axis compared to control animals" [MGI:brs] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0008813 name: decreased common myeloid progenitor cell number def: "reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, MGI:llw2] synonym: "decreased CFU-S" RELATED [] synonym: "decreased CMPs" RELATED [] synonym: "decreased multipotential myeloid stem cell number" RELATED [] synonym: "decreased myeloid stem cell number" RELATED [] synonym: "decreased pluripotent stem cell (bone marrow) number" RELATED [] synonym: "reduced cfu-gemm number" EXACT [] synonym: "reduced common myeloid progenitor cell number" EXACT [] is_a: MP:0006410 ! abnormal common myeloid progenitor cell morphology [Term] id: MP:0008814 name: reduced nerve conduction velocity def: "decrease in the rate at which an electrical impulse travels through a nerve" [MGI:smb] synonym: "increased nerve conduction latency" EXACT [] synonym: "slowed nerve conduction" EXACT [] is_a: MP:0005403 ! abnormal nerve conduction [Term] id: MP:0008815 name: anterior staphyloma def: "any structural anomaly resulting in bulging near the anterior pole of the eyeball" [MGI:llw2] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0008816 name: petechiae def: "very small blood spots or splotches that appear especially in skin as a result of localized hemorrhage" [MGI:llw2] is_a: MP:0011514 ! skin hemorrhage [Term] id: MP:0008817 name: hematoma def: "an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage" [MGI:llw2] is_a: MP:0001914 ! hemorrhage [Term] id: MP:0008818 name: abnormal interfrontal bone morphology def: "any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present" [MGI:csmith] synonym: "interfrontal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0008819 name: abnormal mastication def: "any anomaly in the process of biting and mashing food with the teeth prior to swallowing" [MGI:mberry] synonym: "abnormal chewing" EXACT [] is_a: MP:0001431 ! abnormal eating behavior [Term] id: MP:0008820 name: abnormal blood uric acid level def: "aberrant concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MESH:D03.132.960.877, MGI:brs] synonym: "abnormal blood urate level" RELATED [] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0008821 name: increased blood uric acid level def: "greater concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MESH:D03.132.960.877, MGI:brs] subset: Europhenome_Terms subset: Sanger_Terms synonym: "hyperuricemia" EXACT [] synonym: "increased blood urate level" RELATED [] is_a: MP:0008820 ! abnormal blood uric acid level [Term] id: MP:0008822 name: decreased blood uric acid level def: "reduced concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MESH:D03.132.960.877, MGI:brs] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased blood urate level" RELATED [] synonym: "hypouricemia" EXACT [] synonym: "reduced blood uric acid level" EXACT [] is_a: MP:0008820 ! abnormal blood uric acid level [Term] id: MP:0008823 name: abnormal interventricular septum membranous part morphology def: "any structural anomaly of the membranous portion of the wall between the two lower chambers of the heart" [MGI:smb] synonym: "abnormal ventricular membranous septum morphology" EXACT [] is_a: MP:0000281 ! abnormal interventricular septum morphology [Term] id: MP:0008824 name: absent interventricular septum membranous part def: "absence of the membranous portion of the wall between the two lower chambers of the heart" [MGI:smb] synonym: "absent ventricular membranous septum" EXACT [] is_a: MP:0008823 ! abnormal interventricular septum membranous part morphology [Term] id: MP:0008825 name: abnormal cardiac epithelial to mesenchymal transition def: "anomaly in the process by which endocardial cells of the atrioventricular canal or the outflow tract lose their epithelial characteristics, delaminate from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventually forming both the endocardial cushions required for septum and atrioventricular valve formation and the cushions of the outflow tract that form the conotruncal septum" [PMID:17303760] synonym: "abnormal cardiac epithelial to mesenchymal transformation" EXACT [] synonym: "abnormal endocardial-mesenchymal transformation" EXACT [] is_a: MP:0002925 ! abnormal cardiovascular development [Term] id: MP:0008826 name: abnormal splenic cell ratio def: "deviation from the standard ratios of splenocyte subpopulations compared to control samples" [MGI:mberry] synonym: "abnormal spleen cell ratio" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0008827 name: abnormal thymus cell ratio def: "deviation from the standard ratios of thymocyte subpopulations compared to control samples" [MGI:mberry] synonym: "abnormal thymic cell ratio" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0008828 name: abnormal lymph node cell ratio def: "deviation from the standard ratios of lymph node cell subpopulations compared to control samples" [MGI:mberry] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0008829 name: triphalangia def: "anomaly in which three phalanges are present in the thumb or great toe" [ISBN:0-683-40008-8] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0008830 name: abnormal nucleolus morphology def: "any structural anomaly of the small rounded nuclear substructure that produces ribonucleoprotein" [ISBN:0-683-40008-8] synonym: "abnormal nucleolar morphology" EXACT [] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0008831 name: abnormal insulin-like growth factor I level def: "anomaly in the concentration of a polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MESH:D12.644.276.937.400, MGI:mberry] synonym: "abnormal IGF-I level" EXACT [] synonym: "abnormal IGF1 level" EXACT [] is_a: MP:0003953 ! abnormal hormone level [Term] id: MP:0008832 name: hemivertebra def: "a congenital malformation of the spine in which only half of a vertebral body develops" [ISBN:0-683-40008-8] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0008833 name: caudal hemivertebra def: "a congenital malformation of the caudal vertebrae in which only half of the vertebral body develops" [ISBN:0-683-40008-8] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. is_a: MP:0002759 ! abnormal caudal vertebrae morphology is_a: MP:0008832 ! hemivertebra [Term] id: MP:0008834 name: abnormal melanosome transport def: "any anomaly in the directed movement of melanosomes into, out of, within or between cells" [GO:0032402] synonym: "abnormal melanin granule transport" NARROW [] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0008835 name: abnormal intercellular signaling peptide or protein level def: "abnormal concentration of any regulatory protein or peptide that is a signaling molecule involved in the process of paracrine communication" [MESH:D12.644.276] comment: These molecules are generally considered factors that are expressed by one cell and are responded to by receptors on another nearby cell. These are distinguished from hormones in that their actions are local rather than distal. synonym: "abnormal growth factor level" EXACT [] synonym: "abnormal paracrine peptide factor level" EXACT [] synonym: "abnormal paracrine protein factor level" EXACT [] is_a: MP:0008469 ! abnormal protein level [Term] id: MP:0008836 name: abnormal transforming growth factor beta level def: "abnormal concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function" [MESH:D12.644.276.374.687] comment: A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins. (MESH:D12.644.276.374.687). synonym: "abnormal bone-derived transforming growth factor level" EXACT [] synonym: "abnormal milk growth factor level" EXACT [] synonym: "abnormal platelet transforming growth factor level" EXACT [] synonym: "abnormal TGF-beta level" EXACT [] synonym: "abnormal TGFbeta level" EXACT [] is_a: MP:0008835 ! abnormal intercellular signaling peptide or protein level [Term] id: MP:0008837 name: increased transforming growth factor level def: "greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function" [MESH:D12.644.276.374.687] comment: A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins. (MESH:D12.644.276.374.687). synonym: "increased bone-derived transforming growth factor level" EXACT [] synonym: "increased milk growth factor level" EXACT [] synonym: "increased platelet transforming growth factor level" EXACT [] synonym: "increased TGF-beta level" EXACT [] synonym: "increased TGFbeta level" EXACT [] is_a: MP:0008836 ! abnormal transforming growth factor beta level [Term] id: MP:0008838 name: decreased transforming growth factor level def: "reduced concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function" [MESH:D12.644.276.374.687] comment: A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins. (MESH:D12.644.276.374.687). synonym: "decreased bone-derived transforming growth factor level" EXACT [] synonym: "decreased milk growth factor level" EXACT [] synonym: "decreased platelet transforming growth factor level" EXACT [] synonym: "decreased TGF-beta level" EXACT [] synonym: "decreased TGFbeta level" EXACT [] synonym: "reduced bone-derived transforming growth factor level" EXACT [] synonym: "reduced milk growth factor level" EXACT [] synonym: "reduced platelet transforming growth factor level" EXACT [] synonym: "reduced TGF-beta level" EXACT [] synonym: "reduced TGFbeta level" EXACT [] is_a: MP:0008836 ! abnormal transforming growth factor beta level [Term] id: MP:0008839 name: absent acrosome def: "mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100, MGI:llw2] is_a: MP:0008898 ! abnormal acrosome morphology [Term] id: MP:0008840 name: abnormal spike wave discharge def: "anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy" [PMID:16725200] synonym: "abnormal spike and wave discharge" EXACT [] synonym: "abnormal spike-and-wave discharge" EXACT [] synonym: "abnormal spike-wave discharge" EXACT [] synonym: "abnormal SWDs" EXACT [] is_a: MP:0003216 ! absence seizures [Term] id: MP:0008841 name: ruptured lens capsule def: "a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens" [MGI:llw2] is_a: MP:0003236 ! abnormal lens capsule morphology [Term] id: MP:0008842 name: lipofuscinosis def: "accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging" [PMID:16455164] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0008843 name: absent subcutaneous adipose tissue def: "absence of adipose tissue beneath the skin" [MGI:csmith] synonym: "absent hypodermal fat layer" EXACT [] synonym: "absent panniculus adiposus" EXACT [] synonym: "absent subcutaneous fat layer" EXACT [] is_a: MP:0001781 ! abnormal white adipose tissue amount is_a: MP:0011156 ! abnormal hypodermis fat layer morphology [Term] id: MP:0008844 name: decreased subcutaneous adipose tissue amount def: "reduction in amount of adipose tissue beneath the skin" [MGI:csmith] synonym: "reduced subcutaneous adipose tissue amount" EXACT [] is_a: MP:0001781 ! abnormal white adipose tissue amount is_a: MP:0011156 ! abnormal hypodermis fat layer morphology [Term] id: MP:0008845 name: abnormal paraventricular hypothalamic nucleus morphology def: "any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus" [ISBN:0-683-40008-8] synonym: "abnormal hypothalamic paraventricular nucleus morphology" EXACT [] synonym: "abnormal paraventricular nucleus morphology" EXACT [] synonym: "paraventricular hypothalamic nucleus dysplasia" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0008846 name: abnormal supraoptic nucleus morphology def: "any structural anomaly of a group of cells in the hypothalamus located over the lateral border of the optic tract; neurons produce and transport vasopressin" [ISBN:0-683-40008-8] synonym: "supraoptic nucleus dysplasia" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0008847 name: abnormal suprachiasmatic nucleus morphology def: "any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.357.342.625] synonym: "suprachiasmatic nucleus dysplasia" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0008848 name: abnormal anterior hypothalamic nucleus morphology def: "any structural anomaly of a loose heterogeneous collection of cells in the anterior hypothalamus, continuous rostrally with the medial and lateral preoptic areas and caudally with the tuber cinereum" [MESH:A08.186.211.730.317.357.342.063] synonym: "abnormal anterior hypothalamic area" EXACT [] synonym: "anterior hypothalamic nucleus dysplasia" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0008849 name: abnormal hemoglobin concentration distribution width def: "anomaly in the standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations" [MGI:brs] synonym: "abnormal HDW" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology is_a: MP:0005563 ! abnormal hemoglobin content [Term] id: MP:0008850 name: increased hemoglobin concentration distribution width def: "higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia" [MGI:brs] synonym: "increased HDW" EXACT [] is_a: MP:0008849 ! abnormal hemoglobin concentration distribution width [Term] id: MP:0008851 name: decreased hemoglobin concentration distribution width def: "lower than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations" [MGI:brs] synonym: "decreased HDW" EXACT [] is_a: MP:0008849 ! abnormal hemoglobin concentration distribution width [Term] id: MP:0008852 name: retinal neovascularization def: "formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina" [MESH:C11.768.725] is_a: MP:0002792 ! abnormal retinal vasculature morphology is_a: MP:0003711 ! pathological neovascularization [Term] id: MP:0008853 name: decreased abdominal adipose tissue amount def: "reduction in amount of adipose tissue associated with internal organs" [MGI:csmith] synonym: "reduced abdominal adipose tissue amount" EXACT [] is_a: MP:0001781 ! abnormal white adipose tissue amount [Term] id: MP:0008854 name: bleb def: "presence of a blister-like, nearly hemispherical structure filled with air, serous fluid or blood" [MGI:llw2] synonym: "blistering" BROAD [] synonym: "bulla" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0008855 name: eye bleb def: "presence of blister-like structures formed in the eye during embryonic development that are usually filled with blood" [MGI:llw2] is_a: MP:0001286 ! abnormal eye development [Term] id: MP:0008856 name: fetal bleb def: "presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood" [MGI:llw2] is_a: MP:0003941 ! abnormal skin development [Term] id: MP:0008857 name: myelencephalic blebs def: "presence of blister-like structures formed on the posterior portion of the embryonic hindbrain that are usually filled with blood" [MGI:llw2] is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0008858 name: abnormal hair cycle anagen phase def: "anomaly in the growth phase of the hair cycle" [MGI:llw2] subset: Sanger_Terms is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0008859 name: abnormal hair cycle catagen phase def: "anomaly in the phase of the hair growth cycle during which cell proliferation ceases, the hair follicle shortens, and an anchored hair is produced" [MGI:llw2] subset: Sanger_Terms is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0008860 name: abnormal hair cycle telogen phase def: "anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss" [MGI:llw2] is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0008861 name: abnormal hair shedding def: "anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase" [MGI:llw2] subset: Sanger_Terms is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0008862 name: asymmetric snout def: "presence of a snout that lacks mirrored identity on either side of the median plane" [MGI:mberry] subset: Sanger_Terms synonym: "snout asymmetry" EXACT [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0008863 name: craniofacial asymmetry def: "head or facial features that lack mirrored identity on either side of the median plane" [MGI:mberry] is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0008864 name: abnormal intestinal secretion def: "any anomaly in the quantity or rate of any substance transported from intestinal cells into the lumen of the intestine" [MGI:smb] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0008866 name: chromosomal instability def: "abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity" [MGI:llw2, PMID:12446840] subset: Sanger_Terms is_a: MP:0010094 ! abnormal chromosome stability [Term] id: MP:0008867 name: uniparental disomy def: "abnormal assortment of chromosomes from parent to offspring whereby the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent" [MGI:llw2] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0008868 name: abnormal granulosa cell morphology def: "any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle" [MESH:A.05.360.319.114.630.535.200] synonym: "granulosa cell dysplasia" EXACT [] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0008869 name: anovulation def: "complete failure of ovum to be released from an ovarian follicle" [MESH:C13.351.500.056.630.050, MGI:mnk] synonym: "absence of ovulation" EXACT [] synonym: "absent ovulation" EXACT [] is_a: MP:0001928 ! abnormal ovulation [Term] id: MP:0008870 name: increased mature ovarian follicle number def: "than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0008871 ! abnormal ovarian follicle number is_a: MP:0009364 ! abnormal mature ovarian follicle morphology [Term] id: MP:0008871 name: abnormal ovarian follicle number def: "abnormal numbers of spheroid cell aggregations in the ovary" [MGI:mnk] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0008872 name: abnormal physiological response to xenobiotic def: "any anomaly in the physiological or morphological changes induced by a foreign compound, such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ" [MGI:smb] synonym: "abnormal physiological response to xenobiotics" EXACT [] synonym: "abnormal response to xenobiotics" RELATED [] is_a: MP:0005376 ! homeostasis/metabolism phenotype [Term] id: MP:0008873 name: increased physiological sensitivity to xenobiotic def: "decrease in the dose or concentration of a foreign compound required to induce a specific level of physiological response" [MGI:smb] synonym: "decreased resistance to xenobiotics" EXACT [] synonym: "increased physiological sensitivity to xenobiotics" EXACT [] synonym: "increased susceptibility to xenobiotics" EXACT [] is_a: MP:0008872 ! abnormal physiological response to xenobiotic [Term] id: MP:0008874 name: decreased physiological sensitivity to xenobiotic def: "increase in the dose or concentration of a foreign compound required to induce a specific level of physiological response" [MGI:smb] synonym: "decreased physiological sensitivity to xenobiotics" EXACT [] synonym: "decreased susceptibility to xenobiotics" EXACT [] synonym: "increased resistance to xenobiotics" EXACT [] is_a: MP:0008872 ! abnormal physiological response to xenobiotic [Term] id: MP:0008875 name: abnormal xenobiotic pharmacokinetics def: "any anomaly in the absorption, distribution, metabolism or elimination of a foreign compound" [MGI:smb] synonym: "abnormal pharmacokinetics of xenobiotics" EXACT [] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0008876 name: decreased uterine NK cell number def: "reduced cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy" [PMID:14568979, PMID:19800965] synonym: "decreased decidual natural killer cell number" EXACT [] synonym: "decreased decidual NK cell number" EXACT [] synonym: "decreased dNK cell number" EXACT [] synonym: "decreased GMG cell number" EXACT [] synonym: "decreased granulated metrial gland cell number" EXACT [] synonym: "decreased uNK cell number" EXACT [] synonym: "decreased uterine natural killer cell number" EXACT [] synonym: "reduced decidual natural killer cell number" EXACT [] synonym: "reduced decidual NK cell number" EXACT [] synonym: "reduced dNK cell number" EXACT [] synonym: "reduced GMG cell number" EXACT [] synonym: "reduced granulated metrial gland cell number" EXACT [] synonym: "reduced uNK cell number" EXACT [] synonym: "reduced uterine natural killer cell number" EXACT [] xref: CL:0002343 is_a: MP:0008054 ! abnormal uterine NK cell morphology [Term] id: MP:0008877 name: abnormal DNA methylation def: "any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA" [GO:0006306] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0008878 name: abnormal DNA methylation during gametogenesis def: "any anomaly of the covalent transfer of a methyl group to C-5 of cytosine during gamete generation, when DNA methylation patterns are established" [GO:0043046] synonym: "abnormal de novo DNA methylation" EXACT [] is_a: MP:0001929 ! abnormal gametogenesis is_a: MP:0008877 ! abnormal DNA methylation [Term] id: MP:0008879 name: submandibular gland inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible" [MGI:csmith] synonym: "submaxillary gland inflammation" EXACT [] is_a: MP:0001870 ! salivary gland inflammation [Term] id: MP:0008880 name: lacrimal gland inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the glands that secrete tears" [MGI:csmith] synonym: "dacryoadenitis" EXACT [] is_a: MP:0001348 ! abnormal lacrimal gland physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0008881 name: absent Harderian gland def: "absence of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane" [ISBN:0486631850] comment: The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. is_a: MP:0005248 ! abnormal Harderian gland morphology [Term] id: MP:0008882 name: abnormal enterocyte physiology def: "any functional anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen" [CL:0000584, MGI:csmith] synonym: "abnormal intestinal cell physiology" EXACT [] synonym: "abnormal intestinal epithelial cell physiology" EXACT [] is_a: MP:0010155 ! abnormal intestine physiology [Term] id: MP:0008883 name: abnormal enterocyte proliferation def: "anomaly in the ability of the enterocyte cell population to undergo expansion by cell division" [MGI:csmith] synonym: "abnormal intestinal cell proliferation" EXACT [] synonym: "abnormal intestinal epithelial cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0008882 ! abnormal enterocyte physiology [Term] id: MP:0008884 name: abnormal enterocyte apoptosis def: "change in the timing or the number of enterocytes undergoing programmed cell death" [MGI:csmith] synonym: "abnormal intestinal cell apoptosis" EXACT [] synonym: "abnormal intestinal epithelial cell apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0008882 ! abnormal enterocyte physiology [Term] id: MP:0008885 name: increased enterocyte apoptosis def: "increase in the timing or the number of enterocytes undergoing programmed cell death" [MGI:csmith] synonym: "increased intestinal cell apoptosis" EXACT [] synonym: "increased intestinal epithelial cell apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0008884 ! abnormal enterocyte apoptosis [Term] id: MP:0008886 name: abnormal PML bodies def: "alteration in structure, number or location of the subnuclear structures associated with functions including transcription, DNA repair, viral defense, stress, cell cycle regulation, proteolysis and apoptosis" [https://npd.hgu.mrc.ac.uk/compartments.html, MGI:llw2] synonym: "abnormal Kr bodies" EXACT [] synonym: "abnormal ND10 morphology" EXACT [] synonym: "abnormal nuclear dot morphology" EXACT [] synonym: "abnormal PML NBs" EXACT [] synonym: "abnormal Promyelocytic leukaemia nuclear body" EXACT [] synonym: "abnormal SP-100 bodies" EXACT [] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0008887 name: abnormal splicing factor domain morphology def: "alteration in structure, number or location of subnuclear structures comprising storage locations for elements responsible for excising non-coding regions from a primary messenger RNA transcript and joining coding regions to produce mature messenger RNA" [https://npd.hgu.mrc.ac.uk/compartments.html, MGI:llw2] comment: Same as nuclear speck (GO0016607)? synonym: "abnormal splicing speckle morphology" EXACT [] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0008888 name: abnormal Cajal body morphology def: "alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs" [https://npd.hgu.mrc.ac.uk/compartments.html, MGI:llw2] synonym: "abnormal coiled body morphology" EXACT [] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0008889 name: abnormal Gem morphology def: "alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs and found paired with or juxtaposed to Cajal bodies" [https://npd.hgu.mrc.ac.uk/compartments.html, MGI:llw2] synonym: "abnormal SMN gem morphology" EXACT [] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0008890 name: abnormal nuclear lamina morphology def: "any structural anomaly of the inner nuclear membrane surrounding the nuclear periphery, comprising a scaffold-like network of protein filaments responsible for trafficking of mRNA to the cytoplasm" [https://npd.hgu.mrc.ac.uk/compartments.html, MGI:llw2] is_a: MP:0003111 ! abnormal cell nucleus morphology [Term] id: MP:0008891 name: decreased hepatocyte apoptosis def: "reduction in the number of hepatocytes undergoing programmed cell death" [MGI:rbabiuk] synonym: "reduced hepatocyte apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0010080 ! abnormal hepatocyte physiology [Term] id: MP:0008892 name: abnormal sperm flagellum morphology def: "any structural anomaly of the whiplike posterior filiform portion of the spermatozoon composed of a number of cytoskeletal elements whose proper assembly is critical for sperm motility; the mammalian flagellum is structurally divided into four major parts: the connecting piece, the midpiece, the principal piece, and the end piece" [MESH:A05.360.490.890.840, PMID:14581499] synonym: "abnormal sperm flagella" EXACT [] synonym: "abnormal sperm tail" EXACT [MESH:A05.360.490.890.840] is_a: MP:0005578 ! teratozoospermia [Term] id: MP:0008893 name: detached sperm flagellum def: "fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head" [MESH:A05.360.490.890.840, MGI:csmith] synonym: "detached sperm flagella" EXACT [] synonym: "detached sperm tail" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0008894 name: abnormal intraepithelial T cell morphology def: "any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [ISBN:0781735149] synonym: "abnormal IEL morphology" EXACT [] synonym: "abnormal intraepithelial lymphocyte morphology" EXACT [] synonym: "abnormal intraepithelial T lymphocyte morphology" EXACT [] synonym: "abnormal intraepithelial T-cell morphology" EXACT [] synonym: "abnormal intraepithelial T-lymphocyte morphology" EXACT [] is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0008895 name: abnormal intraepithelial T cell number def: "reduced number of T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements" [ISBN:0781735149] synonym: "abnormal IEL number" EXACT [] synonym: "abnormal intraepithelial lymphocyte number" EXACT [] synonym: "abnormal intraepithelial T lymphocyte number" RELATED [] synonym: "abnormal intraepithelial T-cell number" EXACT [] synonym: "abnormal intraepithelial T-lymphocyte number" EXACT [] is_a: MP:0006387 ! abnormal T cell number is_a: MP:0008894 ! abnormal intraepithelial T cell morphology [Term] id: MP:0008896 name: increased IgG2c level def: "greater than normal immunoglobulin class G2c level" [MGI:csmith] synonym: "increased serum level of immunoglobulin G2c" EXACT [] is_a: MP:0002493 ! increased IgG level [Term] id: MP:0008897 name: decreased IgG2c level def: "less than normal immunoglobulin class G2c level" [MGI:csmith] synonym: "decreased serum level of immunoglobulin G2c" EXACT [] synonym: "reduced IgG2c level" EXACT [] is_a: MP:0001805 ! decreased IgG level [Term] id: MP:0008898 name: abnormal acrosome morphology def: "any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100] synonym: "acrosome dysplasia" EXACT [] is_a: MP:0009230 ! abnormal sperm head morphology [Term] id: MP:0008899 name: plush coat def: "coat has a thick, velvet-like appearance" [MGI:brs] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0008900 name: abnormal uterine fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the uterus" [MGI:csmith] synonym: "abnormal periuterine fat pad morphology" EXACT [] synonym: "abnormal uterine fat depot morphology" EXACT [] synonym: "uterine fat pad dysplasia" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0008901 name: absent epididymal fat pad def: "absence of the encapsulated adipose tissue associated with the epididymis" [MGI:rbabiuk, MGI:smb] synonym: "absent periepididymal fat pad" EXACT [] is_a: MP:0006319 ! abnormal epididymal fat pad morphology [Term] id: MP:0008902 name: abnormal renal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the kidney" [MGI:csmith] synonym: "abnormal perirenal fat pad morphology" EXACT [] synonym: "abnormal renal fat depot morphology" RELATED [] synonym: "renal fat pad dysplasia" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0008903 name: abnormal mesenteric fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the mesentery" [MGI:csmith] synonym: "abnormal mesenteric fat depot morphology" EXACT [] synonym: "mesenteric fat pad dysplasia" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0008904 name: abnormal mammary fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the mammary gland" [MGI:csmith] synonym: "abnormal mammary fat depot morphology" RELATED [] synonym: "mammary fat pad dysplasia" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0008905 name: abnormal femoral fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the femur" [MGI:csmith] synonym: "abnormal femoral fat depot morphology" EXACT [] synonym: "femoral fat pad dysplasia" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0008906 name: abnormal parametrial fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament" [ISBN-13:978-0-7020-2972-1] synonym: "abnormal parametrial fat depot morphology" EXACT [] synonym: "parametrial fat pad dysplasia" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0008907 name: decreased total fat pad weight def: "less than average weight of the fat pads" [MGI:csmith] synonym: "decreased total fat body weight" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0008908 name: increased total fat pad weight def: "greater than average weight of the fat pads" [MGI:csmith] synonym: "increased total fat body weight" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0008909 name: supination def: "rotation of the pedal or prehensile extremity so the forefoot (hand) faces anteriorly to the anatomic position; rotation of the hindfoot (foot) such that the plantar surface turns upward" [MGI:llw2] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0008910 name: thin long bone epiphysis def: "thinner than normal rounded end of a long bone" [MGI:llw2] is_a: MP:0000131 ! abnormal long bone epiphysis morphology [Term] id: MP:0008911 name: induced hyperactivity def: "increased physical activity following stimulation such as handling, touching or noise" [MGI:llw2] subset: Europhenome_Terms is_a: MP:0001399 ! hyperactivity [Term] id: MP:0008912 name: nervous def: "increased, skittish, behavior induced by stimulation such as handling, touching or noise" [MGI:llw2] is_a: MP:0008911 ! induced hyperactivity [Term] id: MP:0008913 name: weaving def: "momentary, slow motions of the whole body from side to side sometimes followed by a sudden drop from an erect position" [MGI:llw2] synonym: "listing" EXACT [] synonym: "swaying" EXACT [] is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0008914 name: enlarged cerebellum def: "increased size of the cerebellum" [MGI:csmith] is_a: MP:0000849 ! abnormal cerebellum morphology [Term] id: MP:0008915 name: fused carpal bones def: "anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together" [ISBN:0-683-40008-8] subset: Sanger_Terms is_a: MP:0000554 ! abnormal carpal bone morphology [Term] id: MP:0008916 name: abnormal astrocyte physiology def: "any functional anomaly of one of the large neuroglia cells of nervous tissue" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal astroglia physiology" EXACT [] synonym: "abnormal astroglial cell physiology" EXACT [] is_a: MP:0003690 ! abnormal glial cell physiology [Term] id: MP:0008917 name: abnormal oligodendrocyte physiology def: "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600] synonym: "abnormal oligodendroglia physiology" EXACT [] synonym: "abnormal oligodendroglial cell physiology" EXACT [] synonym: "abnormal oligoglia physiology" RELATED [] synonym: "abnormal oligoglial cell physiology" EXACT [] is_a: MP:0003690 ! abnormal glial cell physiology [Term] id: MP:0008918 name: microgliosis def: "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith] is_a: MP:0000136 ! abnormal microglial cell morphology is_a: MP:0002183 ! gliosis [Term] id: MP:0008919 name: fused tarsal bones def: "anomaly of the eight bones of the instep of the paw/foot resulting in some or all the bones being joined together" [ISBN:0-683-40008-8] synonym: "fused tarsus bones" EXACT [] is_a: MP:0005104 ! abnormal tarsal bone morphology [Term] id: MP:0008920 name: absent cervical axis def: "absence of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absent C2 vertebra" EXACT [] synonym: "absent epistropheus" EXACT [] is_a: MP:0004608 ! abnormal cervical axis morphology [Term] id: MP:0008921 name: increased neurotransmitter release def: "increased production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [MGI:csmith] is_a: MP:0005445 ! abnormal neurotransmitter secretion [Term] id: MP:0008922 name: abnormal cervical rib def: "alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly" [MGI:llw2] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0008923 name: thoracoschisis def: "congenital fissure of the chest wall" [MGI:llw2] is_a: MP:0003385 ! abnormal body wall morphology [Term] id: MP:0008924 name: decreased cerebellar granule cell number def: "reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [ISBN:0838580343] synonym: "decreased granule cell number" BROAD [] synonym: "decreased granule neuron number" BROAD [] synonym: "reduced granule neuron number" BROAD [] xref: CL:0001031 is_a: MP:0004098 ! abnormal cerebellar granule cell morphology is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0008925 name: increased cerebellar granule cell number def: "greater number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [ISBN:0838580343] synonym: "increased granule cell number" BROAD [] synonym: "increased granule neuron number" BROAD [] xref: CL:0001031 is_a: MP:0004098 ! abnormal cerebellar granule cell morphology is_a: MP:0008947 ! increased neuron number [Term] id: MP:0008926 name: abnormal anterior definitive endoderm morphology def: "any structural anomaly of the mesendoderm which first migrates from the node and which gives rise to the gut" [PMID:12464432] synonym: "abnormal ADE" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0008927 name: abnormal parafascicular nucleus morphology synonym: "abnormal PFN" EXACT [] synonym: "parafascicular nucleus dysplasia" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0008928 name: abnormal paracentral nucleus morphology def: "any structural anomaly of one of the intralaminar nuclei of the thalamus, located medial to the central lateral nucleus" [ISBN:0-683-40008-8] synonym: "paracentral nucleus dysplasia" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0008929 name: abnormal central medial nucleus morphology def: "any structural anomaly of a small cell group in the interthalamic adhesion of the thalamus that occupy the midline region of the internal medullary lamina, between the left and right paracentral nuclei" [ISBN:0-683-40008-8] synonym: "abnormal centromedian nucleus morphology" EXACT [] synonym: "abnormal medial central nucleus of thalamus" EXACT [] synonym: "central medial nucleus dysplasia" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0008930 name: abnormal medial geniculate nucleus morphology def: "any structural anomaly of groups of nerve cells that function as a relay of auditory input to auditory cortex, receiving the brachium of the inferior colliculus and sending processed information to the auditory cortex in the superior temporal gyrus" [ISBN:0-683-40008-8] synonym: "abnormal MGN" RELATED [] synonym: "abnormal nucleus of medial geniculate body" EXACT [] synonym: "medial geniculate nucleus dysplasia" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0008931 name: abnormal paraventricular thalamic nucleus morphology synonym: "paraventricular thalamic nucleus dysplasia" EXACT [] is_a: MP:0000832 ! abnormal thalamus morphology [Term] id: MP:0008932 name: abnormal embryonic tissue physiology def: "any functional anomaly in any of the tissues of the embryo proper" [MGI:smb] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0008933 name: abnormal embryonic cilium physiology def: "any functional anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization" [GO:0031512, MGI:anna] synonym: "abnormal embryonic cilia physiology" EXACT [] synonym: "abnormal embryonic ciliary physiology" EXACT [] synonym: "abnormal motile primary cilia physiology" EXACT [] synonym: "abnormal motile primary cilium physiology" EXACT [] synonym: "abnormal nodal cilium physiology" EXACT [] is_a: MP:0008932 ! abnormal embryonic tissue physiology [Term] id: MP:0008934 name: absent choroid plexus def: "absence of the fringe of the tela choroidea of the brain ventricles" [ISBN:0-683-40008-8] is_a: MP:0000820 ! abnormal choroid plexus morphology [Term] id: MP:0008935 name: decreased mean platelet volume def: "reduced average content of platelet cells over normal" [MGI:mberry] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased MPV" EXACT [] synonym: "reduced mean platelet volume" EXACT [] synonym: "reduced MPV" EXACT [] is_a: MP:0002586 ! abnormal platelet volume [Term] id: MP:0008936 name: abnormal pituitary gland size def: "anomaly in the average size of the compound gland suspended from the base of the hypothalamus" [MGI:anna] is_a: MP:0000633 ! abnormal pituitary gland morphology [Term] id: MP:0008937 name: abnormal pituitary gland weight def: "anomaly in the average weight of the compound gland suspended from the base of the hypothalamus" [MGI:anna] synonym: "abnormal pituitary weight" EXACT [] is_a: MP:0008936 ! abnormal pituitary gland size [Term] id: MP:0008938 name: decreased pituitary gland weight def: "reduction in the average weight of the compound gland suspended from the base of the hypothalamus" [MGI:anna] synonym: "reduced pituitary gland weight" EXACT [] synonym: "reduced pituitary weight" EXACT [] is_a: MP:0005361 ! small pituitary gland is_a: MP:0008937 ! abnormal pituitary gland weight [Term] id: MP:0008939 name: increased pituitary gland weight def: "greater than average weight of the compound gland suspended from the base of the hypothalamus" [MGI:anna] synonym: "increased pituitary weight" EXACT [] is_a: MP:0000636 ! enlarged pituitary gland is_a: MP:0008937 ! abnormal pituitary gland weight [Term] id: MP:0008940 name: delayed balanopreputial separation def: "the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurring at a later than expected age; balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat" [MGI:anna] synonym: "delayed preputial separation" EXACT [] is_a: MP:0001938 ! delayed sexual maturation [Term] id: MP:0008941 name: reticulocytopenia def: "decrease in the normal number of circulating reticulocytes" [MGI:rbabiuk] synonym: "aplastic crisis" RELATED [] synonym: "decreased immature erythrocyte number" EXACT [] synonym: "decreased reticulocyte number" EXACT [] synonym: "reduced immature erythrocyte number" EXACT [] synonym: "reduced reticulocyte number" EXACT [] is_a: MP:0002424 ! abnormal reticulocyte morphology is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0008942 name: abnormal induced cell death def: "anomaly in the response to an agent that induces cessation of function at the cellular level" [MGI:smb] is_a: MP:0000313 ! abnormal cell death [Term] id: MP:0008943 name: increased sensitivity to induced cell death def: "decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level" [MGI:smb] synonym: "decreased resistance to induced cell death" EXACT [] synonym: "increased susceptibility to induced cell death" EXACT [] is_a: MP:0008942 ! abnormal induced cell death [Term] id: MP:0008944 name: decreased sensitivity to induced cell death def: "increase in the exposure level to an agent that is required to induce cessation of function at the cellular level" [MGI:smb] synonym: "decreased susceptibility to induced cell death" EXACT [] synonym: "increased resistance to induced cell death" EXACT [] synonym: "reduced sensitivity to induced cell death" EXACT [] is_a: MP:0008942 ! abnormal induced cell death [Term] id: MP:0008945 name: hyperchromic macrocytic anemia def: "deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal and the total amount of hemoglobin per cell is increased, but the percentage of hemoglobin per cell is usually in the normochromic range" [MGI:rbabiuk] is_a: MP:0002811 ! macrocytic anemia [Term] id: MP:0008946 name: abnormal neuron number def: "anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0008947 name: increased neuron number def: "greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663] is_a: MP:0008946 ! abnormal neuron number [Term] id: MP:0008948 name: decreased neuron number def: "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663] synonym: "reduced neuron number" EXACT [] is_a: MP:0008946 ! abnormal neuron number [Term] id: MP:0008949 name: increased Cajal-Retzius cell number def: "greater number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus" [MGI:monikat] is_a: MP:0008030 ! abnormal Cajal-Retzius cell morphology is_a: MP:0008947 ! increased neuron number [Term] id: MP:0008950 name: ventricular tachycardia alt_id: Fyler:7160 def: "paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "V tach" EXACT [] synonym: "ventricular polycardia" RELATED [] synonym: "ventricular tachyrhythmia" EXACT [] synonym: "ventricular tachysystole" RELATED [] synonym: "wide-complex tachycardia" EXACT [] is_a: MP:0002626 ! increased heart rate [Term] id: MP:0008951 name: long radius def: "increased length of the short bone of the lateral forearm" [ISBN:0-683-40008-8] is_a: MP:0000552 ! abnormal radius morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0008952 name: abnormal pancreatic delta cell physiology def: "any functional anomaly of the cells found in the pancreas that secrete somatostatin" [MESH:A03.556.875.875.440.854] synonym: "abnormal D cell physiology" EXACT [] synonym: "abnormal pancreatic D cell physiology" EXACT [] synonym: "abnormal somatostatin-secreting cell physiology" EXACT [] is_a: MP:0010147 ! abnormal endocrine pancreas physiology [Term] id: MP:0008953 name: abnormal pancreatic somatostatin secretion def: "anomaly in the production or release from pancreatic delta cells of a 14 amino acid peptide that inhibits growth hormone release and is found in the central and peripheral nervous systems, the gut, and other organs" [MESH:D06.472.699.327.700.875] is_a: MP:0002694 ! abnormal pancreas secretion is_a: MP:0008952 ! abnormal pancreatic delta cell physiology [Term] id: MP:0008954 name: abnormal cellular hemoglobin content def: "anomaly in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume" [MGI:brs] comment: CH is reported in picograms (pg). synonym: "abnormal CH" EXACT [] synonym: "abnormal corpuscular hemoglobin content" EXACT [] is_a: MP:0005563 ! abnormal hemoglobin content [Term] id: MP:0008955 name: increased cellular hemoglobin content def: "increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume" [MGI:brs] comment: CH is reported in picograms (pg). subset: Europhenome_Terms synonym: "increased CH" EXACT [] synonym: "increased corpuscular hemoglobin content" EXACT [] is_a: MP:0008954 ! abnormal cellular hemoglobin content [Term] id: MP:0008956 name: decreased cellular hemoglobin content def: "decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume" [MGI:brs] comment: CH is reported in picograms (pg). subset: Europhenome_Terms synonym: "decreased CH" EXACT [] synonym: "decreased corpuscular hemoglobin content" EXACT [] synonym: "reduced CH" EXACT [] synonym: "reduced corpuscular hemoglobin content" EXACT [] is_a: MP:0008954 ! abnormal cellular hemoglobin content [Term] id: MP:0008957 name: abnormal placenta junctional zone morphology def: "any structural anomaly of the fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth" [PMID:16367805] synonym: "abnormal placental junctional zone" EXACT [] synonym: "placenta junctional zone dysplasia" EXACT [] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0008958 name: abnormal glycogen cell morphology def: "any structural anomaly of a glycogen-accumulating trophoblast cell that arises in the junctional zone of the placenta" [PMID:17039549] synonym: "abnormal GC morphology" EXACT [] is_a: MP:0008957 ! abnormal placenta junctional zone morphology [Term] id: MP:0008959 name: abnormal spongiotrophoblast cell morphology def: "any structural anomaly of a trophoblast cell that arises in the junctional zone of the placenta" [MGI:csmith] is_a: MP:0004255 ! abnormal spongiotrophoblast layer morphology [Term] id: MP:0008960 name: abnormal axon pruning def: "defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism" [MGI:tmeehan] is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0008961 name: abnormal basal metabolism def: "any anomaly in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state" [MESH:E01.370.374.750.100] synonym: "abnormal basal metabolic rate" RELATED [] synonym: "abnormal heat production" EXACT [] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0008962 name: abnormal carbon dioxide production def: "deviation from the normal rate at which carbon dioxide leaves the blood and enters the alveolar gas" [MGI:csmith] synonym: "abnormal carbon dioxide emission" EXACT [] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0008963 name: increased carbon dioxide production def: "increase in the rate at which carbon dioxide leaves the blood and enters the alveolar gas" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased carbon dioxide emission" EXACT [] is_a: MP:0008962 ! abnormal carbon dioxide production [Term] id: MP:0008964 name: decreased carbon dioxide production def: "reduction in the rate at which carbon dioxide leaves the blood and enters the alveolar gas" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased carbon dioxide emission" EXACT [] synonym: "reduced carbon dioxide emission" EXACT [] synonym: "reduced carbon dioxide production" RELATED [] is_a: MP:0008962 ! abnormal carbon dioxide production [Term] id: MP:0008965 name: increased basal metabolism def: "increase in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state" [MESH:E01.370.374.750.100] synonym: "increased basal metabolic rate" EXACT [] synonym: "increased heat production" EXACT [] is_a: MP:0008961 ! abnormal basal metabolism [Term] id: MP:0008966 name: abnormal chiasmata formation def: "atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events" [MGI:llw2] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0008967 name: absent chiasmata formation def: "during meiosis I there are no observable cross-over regions where nonsister chromatids of homologous chromosomes recombine with each other" [MGI:llw2] is_a: MP:0008966 ! abnormal chiasmata formation [Term] id: MP:0008968 name: abnormal lacrimal apparatus morphology def: "any structural anomaly of the tear-forming and tear-conducting system that secretes tears and drains the surface of the eyeball" [MESH:A09.371.463, MGI:csmith] synonym: "lacrimal apparatus dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0008969 name: abnormal nasolacrimal duct morphology def: "any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity" [ISBN:0-683-40008-8] synonym: "abnormal nasal duct morphology" EXACT [] synonym: "abnormal naso-lacrimal duct morphology" EXACT [] synonym: "nasolacrimal duct dysplasia" EXACT [] is_a: MP:0008968 ! abnormal lacrimal apparatus morphology [Term] id: MP:0008970 name: choanal atresia alt_id: Fyler:4203 def: "blockage of the back of the nasal passage by abnormal bony or soft tissue, usually due to failure of the bucconasal membrane to involute during development" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "internal nares atresia" EXACT [] is_a: MP:0002236 ! abnormal internal nares morphology [Term] id: MP:0008971 name: abnormal ethmoturbinate morphology def: "any structural anomaly of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal ethmoturbinals" EXACT [ISBN:0-683-40008-8] synonym: "ethmoturbinate dysplasia" EXACT [] is_a: MP:0000100 ! abnormal ethmoidal bone morphology is_a: MP:0002244 ! abnormal turbinate morphology [Term] id: MP:0008972 name: ethmoturbinate hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals" [ISBN:0-683-40008-8, MGI:csmith] synonym: "ethmoturbinal hypoplasia" EXACT [] is_a: MP:0008971 ! abnormal ethmoturbinate morphology [Term] id: MP:0008973 name: decreased erythroid progenitor cell number def: "reduced numbers of progenitors of the erythrocyte lineage" [CL:0000038, MGI:csmith] synonym: "decreased BFU-E number" RELATED [] synonym: "decreased blast forming unit erythroid number" RELATED [] synonym: "decreased burst forming unit erythroid number" RELATED [] synonym: "decreased CFU-E number" RELATED [] synonym: "decreased colony forming unit erythroid number" RELATED [] synonym: "decreased erythroid precursors" EXACT [] synonym: "decreased erythroid stem cell number" RELATED [] synonym: "reduced BFU-E number" RELATED [] synonym: "reduced blast forming unit erythroid number" RELATED [] synonym: "reduced burst forming unit erythroid number" RELATED [] synonym: "reduced CFU-E number" RELATED [] synonym: "reduced colony forming unit erythroid number" RELATED [] synonym: "reduced erythroid precursors" EXACT [] synonym: "reduced erythroid stem cell number" RELATED [] is_a: MP:0008801 ! abnormal erythroid progenitor cell morphology [Term] id: MP:0008974 name: proportional dwarf def: "abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences" [ISBN:0-683-40008-8, MGI:csmith] comment: In humans, dwarfism is defined as a condition in which the standing height of a person is below the third percentile. synonym: "proportional dwarfism" EXACT [] is_a: MP:0001265 ! decreased body size [Term] id: MP:0008975 name: delayed male fertility def: "ability of a male organism to produce live offspring occurring at a later than expected age" [MGI:csmith] is_a: MP:0002683 ! delayed fertility [Term] id: MP:0008976 name: delayed female fertility def: "ability of a female organism to produce live offspring occurring at a later than expected age" [MGI:csmith] is_a: MP:0002683 ! delayed fertility [Term] id: MP:0008977 name: abnormal vagina size def: "anomaly in the size of the female reproductive canal located between the uterus and the vulva" [MGI:anna] synonym: "abnormal vaginal size" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0008978 name: abnormal vagina weight def: "anomaly in the weight of the female reproductive canal located between the uterus and the vulva" [MGI:anna] synonym: "abnormal vaginal weight" EXACT [] is_a: MP:0008977 ! abnormal vagina size [Term] id: MP:0008979 name: increased vagina weight def: "increase in the weight of the female reproductive canal located between the uterus and the vulva" [MGI:anna] synonym: "increased vaginal weight" EXACT [] is_a: MP:0008978 ! abnormal vagina weight is_a: MP:0008981 ! enlarged vagina [Term] id: MP:0008980 name: decreased vagina weight def: "decrease in the weight of the female reproductive canal located between the uterus and the vulva" [MGI:anna] synonym: "decreased vaginal weight" EXACT [] synonym: "reduced vagina weight" EXACT [] synonym: "reduced vaginal weight" EXACT [] is_a: MP:0008978 ! abnormal vagina weight is_a: MP:0008983 ! small vagina [Term] id: MP:0008981 name: enlarged vagina def: "increase in the size of the female reproductive canal located between the uterus and the vulva" [MGI:anna] subset: Europhenome_Terms synonym: "increased vagina size" EXACT [] synonym: "increased vaginal size" EXACT [] is_a: MP:0008977 ! abnormal vagina size [Term] id: MP:0008982 name: vagina hyperplasia def: "overdevelopment or increased size of the vagina, usually due an increased number of cells" [MGI:anna] synonym: "vaginal hyperplasia" EXACT [] is_a: MP:0008981 ! enlarged vagina [Term] id: MP:0008983 name: small vagina def: "decrease in the size of the female reproductive canal located between the uterus and the vulva" [MGI:anna] subset: Europhenome_Terms synonym: "decreased vagina size" EXACT [] synonym: "decreased vaginal size" EXACT [] synonym: "reduced vagina size" EXACT [] synonym: "reduced vaginal size" EXACT [] is_a: MP:0008977 ! abnormal vagina size [Term] id: MP:0008984 name: vagina hypoplasia alt_id: MP:0003532 def: "underdevelopment or reduced size of the vagina, usually due to a reduced number of cells" [MGI:anna] synonym: "rudimentary vagina" EXACT [] synonym: "vaginal hypoplasia" EXACT [] is_a: MP:0008983 ! small vagina [Term] id: MP:0008985 name: hemimelia def: "congenital absence of part of an extremity, such as absent fibula with the tibia present" [ISBN:0-683-40008-8] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0008986 name: abnormal liver parenchyma morphology def: "any structural anomaly of the functional units of the liver including the lobules" [MGI:csmith] synonym: "abnormal hepatic parenchyma morphology" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0008987 name: abnormal liver lobule morphology def: "any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein" [ISBN:0-683-40008-8] comment: Do not confuse this term with the anatomic lobes of the liver. synonym: "abnormal classic lobule" EXACT [] synonym: "abnormal classical lobule" EXACT [] synonym: "abnormal hepatic lobule morphology" EXACT [] is_a: MP:0008986 ! abnormal liver parenchyma morphology [Term] id: MP:0008988 name: abnormal liver perisinusoidal space morphology def: "any structural anomaly of the extravascular space in the liver between the parenchymal cells and a sinusoid that contains the blood plasma" [ISBN:0-683-40008-8] synonym: "abnormal hepatic perisinusoidal space morphology" EXACT [] synonym: "abnormal space of Disse morphology" EXACT [] is_a: MP:0008987 ! abnormal liver lobule morphology [Term] id: MP:0008989 name: abnormal liver sinusoid morphology def: "any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes" [ISBN:0-683-40008-8] synonym: "abnormal hepatic sinusoid morphology" EXACT [] is_a: MP:0008987 ! abnormal liver lobule morphology is_a: MP:0009820 ! abnormal liver vasculature morphology [Term] id: MP:0008990 name: abnormal Ito cell morphology def: "any structural anomaly of the fat-storing cells that line the hepatic sinusoids" [ISBN:0-683-40008-8] synonym: "abnormal hepatic lipocytes" EXACT [] synonym: "abnormal hepatic stellate cell morphology" EXACT [] is_a: MP:0008988 ! abnormal liver perisinusoidal space morphology [Term] id: MP:0008991 name: abnormal bile canaliculus morphology def: "any structural anomaly of the intercellular channels that take up bile from hepatocytes and transport it to the bile ducts" [ISBN:0-683-40008-8] synonym: "abnormal bile canaliculi morphology" EXACT [] synonym: "abnormal bile capillary morphology" EXACT [] is_a: MP:0008987 ! abnormal liver lobule morphology [Term] id: MP:0008992 name: abnormal portal lobule morphology def: "any structural anomaly of the triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel" [ISBN:0-683-40008-8] is_a: MP:0008986 ! abnormal liver parenchyma morphology [Term] id: MP:0008993 name: abnormal portal triad morphology def: "any structural anomaly of the three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0008992 ! abnormal portal lobule morphology [Term] id: MP:0008994 name: early vaginal opening def: "the opening of the genital canal in a female occurring at an earlier than expected age" [MGI:anna] synonym: "early onset of vaginal opening" EXACT [] synonym: "precocious vaginal opening" EXACT [] is_a: MP:0003378 ! early sexual maturation [Term] id: MP:0008995 name: early reproductive senescence def: "loss of reproductive capacity occurring at an earlier than expected age" [MGI:anna] synonym: "accelerated reproductive aging" EXACT [] synonym: "early onset of reproductive senescence" EXACT [] synonym: "precocious reproductive senescence" EXACT [] synonym: "premature reproductive aging" EXACT [] is_a: MP:0002161 ! abnormal fertility/fecundity is_a: MP:0003786 ! premature aging [Term] id: MP:0008996 name: abnormal blood osmolality def: "anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility" [MGI:llw2] synonym: "abnormal plasma osmolality" NARROW [] synonym: "abnormal serum osmolality" NARROW [] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0008997 name: increased blood osmolality def: "increase in the concentration of ions in the blood compared to the normal state" [MGI:hdene] synonym: "increased plasma osmolality" NARROW [] synonym: "increased serum osmolality" NARROW [] is_a: MP:0008996 ! abnormal blood osmolality [Term] id: MP:0008998 name: decreased blood osmolality def: "decrease in the concentration of ions in the blood compared to the normal state" [MGI:hdene] synonym: "decreased plasma osmolality" NARROW [] synonym: "decreased serum osmolality" NARROW [] synonym: "reduced plasma osmolality" NARROW [] synonym: "reduced serum osmolality" NARROW [] is_a: MP:0008996 ! abnormal blood osmolality [Term] id: MP:0008999 name: absent anus def: "absence of the lower opening of the digestive tract" [ISBN:0-683-40008-8] is_a: MP:0005034 ! abnormal anus morphology [Term] id: MP:0009000 name: absent cecum def: "absence of the large sac at the ileum and large intestine junction" [ISBN:0-683-40008-8] synonym: "absent caecum" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009001 name: absent hallux def: "absence of the first or primary digit of the foot" [ISBN:0-683-40008-8] synonym: "absent big toe" EXACT [] synonym: "absent great toe" RELATED [] synonym: "absent large toe" EXACT [] is_a: MP:0000565 ! oligodactyly is_a: MP:0009049 ! abnormal hallux morphology [Term] id: MP:0009002 name: premature hair regrowth def: "faster initiation of the hair growth cycle (anagen) after catagen phase" [MGI:smb] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0009003 name: abnormal vibrissa number def: "any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors" [MESH:A13.950, MGI:smb] synonym: "abnormal contour hair number" EXACT [] synonym: "abnormal sinus hair number" EXACT [] synonym: "abnormal touch hair number" EXACT [] synonym: "abnormal vibrissae number" EXACT [] synonym: "abnormal whisker number" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0009004 name: progressive hair loss def: "thinning of hair (coat) over time, usually in a defined pattern, until entirely gone with no recurrent growth" [MGI:llw2] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0009005 name: abnormal sesamoid bone of gastrocnemius morphology def: "any structural anomaly of the small sesamoid bones situated behind the condyles of the femur" [MGI:smb] synonym: "abnormal fabella morphology" EXACT [] synonym: "medial sesamoid bone of the knee" EXACT [] is_a: MP:0002115 ! abnormal limb bone morphology [Term] id: MP:0009006 name: prolonged estrous cycle def: "increase in the length of the estrous cycle" [MGI:anna] synonym: "increased estrous cycle duration" RELATED [] synonym: "prolonged estrus cycle" EXACT [] synonym: "prolonged oestrous cycle" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009007 name: short estrous cycle def: "decrease in the length of the estrous cycle" [MGI:anna] synonym: "decreased estrous cycle duration" EXACT [] synonym: "short estrus cycle" EXACT [] synonym: "short oestrous cycle" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009008 name: delayed estrous cycle def: "onset of the estrous cycle of females occurring at a later than expected day/age" [MGI:anna] synonym: "delayed estrus" EXACT [] synonym: "delayed oestrous" EXACT [] synonym: "delayed onset of estrous cycling" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009009 name: absent estrous cycle def: "failure of female animals to enter or progress through the estrous cycle" [MGI:anna] synonym: "absence of estrous cycle" EXACT [] synonym: "absence of estrous cycling" EXACT [] synonym: "absent estrus cycle" EXACT [] synonym: "absent oestrous cycle" EXACT [] synonym: "acyclic females" EXACT [] synonym: "anestrus" RELATED [] synonym: "estrous acyclicity" EXACT [] synonym: "failure of estrous cyclicity" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009010 name: abnormal diestrus def: "any anomaly or aberrant timing of the last phase of the estrous cycle, during which unfertilized eggs are eliminated, the vagina and vulva are at a minimum size, and new follicles begin to undergo a rapid growth for the next ovulation; if pregnancy does not occur, the metestrous phase is ultimately followed by the diestrous phase" [MGI:anna] synonym: "abnormal diestrous" EXACT [] synonym: "abnormal diestrous phase" EXACT [] synonym: "abnormal dioestrous" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009011 name: prolonged diestrus def: "increase in the length of the diestrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "extended diestrous" EXACT [] synonym: "increased diestrous phase duration" EXACT [] synonym: "prolonged diestrous" EXACT [] synonym: "prolonged dioestrous" EXACT [] is_a: MP:0009010 ! abnormal diestrus [Term] id: MP:0009012 name: short diestrus def: "decrease in the length of the diestrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "decreased diestrous phase duration" EXACT [] synonym: "short diestrous" EXACT [] synonym: "short dioestrous" EXACT [] is_a: MP:0009010 ! abnormal diestrus [Term] id: MP:0009013 name: abnormal proestrus def: "any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina" [MGI:anna] synonym: "abnormal proestrous" EXACT [] synonym: "abnormal proestrous phase" EXACT [] synonym: "abnormal prooestrous" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009014 name: prolonged proestrus def: "increase in the length of the proestrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "extended proestrous" EXACT [] synonym: "increased proestrous phase duration" EXACT [] synonym: "prolonged proestrous" EXACT [] synonym: "prolonged prooestrous" EXACT [] is_a: MP:0009013 ! abnormal proestrus [Term] id: MP:0009015 name: short proestrus def: "decrease in the length of the proestrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "decreased proestrous phase duration" EXACT [] synonym: "short proestrous" EXACT [] synonym: "short prooestrous" EXACT [] is_a: MP:0009013 ! abnormal proestrus [Term] id: MP:0009016 name: abnormal estrus def: "any anomaly or aberrant timing of the phase of the estrous cycle which begins with the ovulation of fully mature oocytes and during which the vulva remains in an extended state with an open vagina, and females are maximally receptive to male advances" [MGI:anna] synonym: "abnormal estrous" EXACT [] synonym: "abnormal estrous phase" EXACT [] synonym: "abnormal oestrous" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009017 name: prolonged estrus def: "increase in the length of the estrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "extended estrous" EXACT [] synonym: "increased estrous phase duration" EXACT [] synonym: "prolonged estrous" EXACT [] synonym: "prolonged oestrous" EXACT [] is_a: MP:0009016 ! abnormal estrus [Term] id: MP:0009018 name: short estrus def: "decrease in the length of the estrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "decreased estrous phase duration" EXACT [] synonym: "short estrous" EXACT [] synonym: "short oestrous" EXACT [] is_a: MP:0009016 ! abnormal estrus [Term] id: MP:0009019 name: abnormal metestrus def: "any anomaly or aberrant timing of the phase of the estrous cycle which follows estrus when mature eggs move through the oviducts and into the uterus; the vulva is no longer bloated, and the vagina is now closed" [MGI:anna] synonym: "abnormal metestrous" EXACT [] synonym: "abnormal metestrous phase" EXACT [] synonym: "abnormal metoestrous" EXACT [] is_a: MP:0001927 ! abnormal estrous cycle [Term] id: MP:0009020 name: prolonged metestrus def: "increase in the length of the metestrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "extended metestrous" EXACT [] synonym: "increased metestrous phase duration" EXACT [] synonym: "prolonged metestrous" EXACT [] synonym: "prolonged metoestrous" EXACT [] is_a: MP:0009019 ! abnormal metestrus [Term] id: MP:0009021 name: absent estrus def: "absence or failure of the estrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "absence of estrous phase" EXACT [] synonym: "absent estrous" EXACT [] synonym: "absent oestrous" EXACT [] is_a: MP:0009016 ! abnormal estrus [Term] id: MP:0009022 name: abnormal brain meninges morphology def: "any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal)" [ISBN:0-683-40008-8] is_a: MP:0005623 ! abnormal meninges morphology [Term] id: MP:0009023 name: abnormal spinal cord meninges morphology def: "any structural anomaly in any of the membranes covering the spinal cord, including the dura mater (external), arachnoid (middle), and pia mater (internal)" [ISBN:0-683-40008-8] is_a: MP:0005623 ! abnormal meninges morphology [Term] id: MP:0009024 name: abnormal brain arachnoid mater morphology def: "any structural anomaly of the fibrous membrane forming the middle of the three coverings that surrounds the brain within the cranial cavity" [ISBN:0-683-40008-8] synonym: "abnormal arachnoidea mater cranialis morphology" EXACT [] synonym: "abnormal cranial arachnoid mater" EXACT [] is_a: MP:0009022 ! abnormal brain meninges morphology [Term] id: MP:0009025 name: abnormal brain dura mater morphology def: "any structural anomaly of the fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer" [ISBN:0-683-40008-8] synonym: "abnormal cranial dura mater morphology" EXACT [] synonym: "abnormal dura mater cranialis" EXACT [] is_a: MP:0009022 ! abnormal brain meninges morphology [Term] id: MP:0009026 name: abnormal brain pia mater morphology def: "any structural anomaly of the fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule" [ISBN:0-683-40008-8] is_a: MP:0009022 ! abnormal brain meninges morphology [Term] id: MP:0009027 name: abnormal subarachnoid space morphology def: "any structural anomaly of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid" [ISBN:0-683-40008-8] synonym: "abnormal cavum subarachnoideum morphology" EXACT [] synonym: "abnormal leptomeningeal space morphology" EXACT [] synonym: "abnormal spatium subarachnoideum morphology" EXACT [] synonym: "abnormal subarachnoid cavity morphology" EXACT [] is_a: MP:0005623 ! abnormal meninges morphology [Term] id: MP:0009028 name: abnormal chiasmatic cistern morphology def: "any structural anomaly of the region of the subarachnoid space that is located below and anterior to the optic chiasm" [ISBN:0-683-40008-8] synonym: "abnormal cistern of chiasm morphology" EXACT [] synonym: "abnormal cisterna chiasmatica morphology" EXACT [] is_a: MP:0009032 ! abnormal subarachnoid cistern morphology [Term] id: MP:0009029 name: abnormal basal cistern morphology def: "any structural anomaly of the enclosed space where the arachnoid membrane stretches between the two temporal lobes and encloses the cerebral peduncles including the structures contained in the interpeduncular fossa" [ISBN:0-683-40008-8] synonym: "abnormal cisterna basalis morphology" EXACT [] synonym: "abnormal cisterna cruralis morphology" EXACT [] synonym: "abnormal cisterna interpeduncularis morphology" EXACT [] synonym: "abnormal interpeduncular cistern morphology" EXACT [] synonym: "abnormal Tarin space morphology" EXACT [] synonym: "abnormal Tarin's space morphology" EXACT [] is_a: MP:0009032 ! abnormal subarachnoid cistern morphology [Term] id: MP:0009030 name: abnormal pontine cistern morphology def: "any structural anomaly of the space located on lateral aspects of the pons at the junction with the cerebellum" [ISBN:0-683-40008-8] synonym: "abnormal cisterna pontis morphology" EXACT [] synonym: "abnormal cisterna pontocerebellaris morphology" EXACT [] synonym: "abnormal pontocerebellar cistern morphology" EXACT [] synonym: "abnormal prepontine cistern morphology" EXACT [] is_a: MP:0009032 ! abnormal subarachnoid cistern morphology [Term] id: MP:0009031 name: abnormal cerebellomedullary cistern morphology def: "any structural anomaly of the largest of the subarachnoid spaces between the cerebellum and the medulla oblongata" [ISBN:0-683-40008-8] is_a: MP:0009032 ! abnormal subarachnoid cistern morphology [Term] id: MP:0009032 name: abnormal subarachnoid cistern morphology def: "any structural anomaly of the widening portions of the subarachnoid space within the cranium where the arachnoid bridges over a depression on the surface of the brain" [ISBN:0-683-40008-8] synonym: "abnormal cisternae subarachnoideae morphology" EXACT [] is_a: MP:0009027 ! abnormal subarachnoid space morphology [Term] id: MP:0009033 name: abnormal posterior cerebellomedullary cistern def: "any structural anomaly of the space between the cerebellum and the dorsal surface of the medulla" [ISBN:0-683-40008-8] synonym: "abnormal cisterna cerebellomedullaris posterior morphology" EXACT [] synonym: "abnormal cisterna magna morphology" EXACT [] is_a: MP:0009031 ! abnormal cerebellomedullary cistern morphology [Term] id: MP:0009034 name: abnormal lateral cerebellomedullary cistern morphology def: "any structural anomaly of the space between the cerebellum and the lateral aspect of the medulla" [ISBN:0-683-40008-8] synonym: "abnormal cisterna cerebellomedullaris lateralis morphology" EXACT [] is_a: MP:0009031 ! abnormal cerebellomedullary cistern morphology [Term] id: MP:0009035 name: abnormal quadrigeminal cistern morphology def: "any structural anomaly of the enclosed space extending forward between the corpus callosum and the thalamus that contains the internal cerebral veins" [ISBN:0-683-40008-8] synonym: "abnormal Bichat canal morphology" EXACT [] synonym: "abnormal cistern of great cerebral vein morphology" EXACT [] synonym: "abnormal cisterna quadrigeminalis morphology" EXACT [] synonym: "abnormal cisterna venae magnae cerebri morphology" EXACT [] synonym: "abnormal superior cistern morphology" EXACT [] is_a: MP:0009032 ! abnormal subarachnoid cistern morphology [Term] id: MP:0009036 name: absent posterior cerebellomedullary cistern def: "absence of the space between the cerebellum and the dorsal surface of the medulla" [ISBN:0-683-40008-8] synonym: "absent cisterna cerebellomedullaris posterior morphology" EXACT [] synonym: "absent cisterna magna morphology" EXACT [] is_a: MP:0009033 ! abnormal posterior cerebellomedullary cistern [Term] id: MP:0009037 name: abnormal subarachnoid space development def: "anomaly in the formation of the space between the arachnoid and dura mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid" [ISBN:0-683-40008-8] synonym: "abnormal cavum subarachnoideum development" EXACT [] synonym: "abnormal leptomeningeal space development" EXACT [] synonym: "abnormal spatium subarachnoideum development" EXACT [] synonym: "abnormal subarachnoid cavity development" EXACT [] is_a: MP:0009027 ! abnormal subarachnoid space morphology [Term] id: MP:0009038 name: decreased inferior colliculus size def: "decreased size of the paired inferior eminence of the mesencephalic tectum" [MGI:anna] synonym: "decreased corpora quadrigeminum posterius size" EXACT [] synonym: "decreased inferior nasal colliculus size" EXACT [] synonym: "decreased posterior quadrigeminal body size" EXACT [] synonym: "decreased size of inferior colliculus" EXACT [] synonym: "reduced inferior colliculus size" EXACT [] synonym: "reduced size of inferior colliculus" EXACT [] synonym: "truncated inferior colliculus" EXACT [] is_a: MP:0000776 ! abnormal inferior colliculus morphology [Term] id: MP:0009039 name: absent inferior colliculus def: "absence of the paired inferior eminence of the mesencephalic tectum" [MGI:anna] synonym: "absent corpora quadrigeminum posterius" EXACT [] synonym: "absent inferior nasal colliculus" EXACT [] synonym: "absent posterior quadrigeminal body" EXACT [] is_a: MP:0000776 ! abnormal inferior colliculus morphology [Term] id: MP:0009040 name: absent superior colliculus def: "absence of the paired superior eminence of the mesencephalic tectum" [MGI:anna] synonym: "absent anterior quadrigeminal body" EXACT [] synonym: "absent corpora quadrigeminum posterius anterius" EXACT [] is_a: MP:0000904 ! abnormal superior colliculus morphology [Term] id: MP:0009041 name: absent colliculi def: "absence of the inferior and superior colliculus" [MGI:anna] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0009042 name: pilar cyst def: "an epithelial cyst of the skin arising from the outer root sheath of the hair follicle" [MGI:llw2] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0009043 name: increased pancreas adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreas, occurring in a specific population in a given time period" [MGI:csmith] synonym: "pancreatic adenoma" EXACT [] is_a: MP:0009153 ! increased pancreas tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0009044 name: increased adrenal gland adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal gland, occurring in a specific population in a given time period" [MGI:csmith] synonym: "adrenal adenoma" EXACT [] is_a: MP:0002031 ! increased adrenal gland tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0009045 name: muscle tetany def: "a condition of mineral imbalance in the body that results in severe muscle spasms occurring when the concentration of calcium ions (Ca++) in extracellular fluids such as plasma falls below normal" [MGI:llw2] synonym: "tetanic cramps" EXACT [] is_a: MP:0000743 ! muscle spasm [Term] id: MP:0009046 name: muscle twitch def: "minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder" [MGI:llw2] synonym: "muscle twitches" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0009047 name: short metestrus def: "decrease in the length of the metestrous phase of the estrous cycle in female animals" [MGI:anna] synonym: "decreased metestrous phase duration" EXACT [] synonym: "short metestrous" EXACT [] synonym: "short metoestrous" EXACT [] synonym: "shortened metestrous" EXACT [] is_a: MP:0009019 ! abnormal metestrus [Term] id: MP:0009048 name: enlarged tectum def: "increased size of the rostral part of the midbrain roof" [MGI:anna] synonym: "increased tectum size" EXACT [] is_a: MP:0006104 ! abnormal tectum morphology [Term] id: MP:0009049 name: abnormal hallux morphology def: "any structural anomaly of the first or primary digit of the foot" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal big toe morphology" EXACT [] synonym: "abnormal digitus primus morphology" BROAD [] synonym: "abnormal great toe morphology" EXACT [] synonym: "abnormal pollex pedis morphology" RELATED [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0009050 name: dilated proximal convoluted tubules def: "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb] synonym: "dilated proximal convoluted kidney tubules" EXACT [] synonym: "dilated proximal convoluted renal tubules" EXACT [] synonym: "dilated proximal renal tubules" EXACT [] synonym: "proximal convoluted tubule ectasia" EXACT [] synonym: "proximal renal tubule dilation" EXACT [] is_a: MP:0002705 ! dilated renal tubules is_a: MP:0004756 ! abnormal proximal convoluted tubule morphology [Term] id: MP:0009051 name: dilated distal convoluted tubules def: "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex" [MGI:smb] synonym: "dilated distal convoluted kidney tubules" EXACT [] synonym: "dilated distal convoluted renal tubules" EXACT [] synonym: "dilated distal renal tubules" EXACT [] synonym: "distal convoluted tubule ectasia" EXACT [] synonym: "distal convoluted tubules dilation" EXACT [] synonym: "distal renal tubule dilation" RELATED [] is_a: MP:0002705 ! dilated renal tubules is_a: MP:0004757 ! abnormal distal convoluted tubule morphology [Term] id: MP:0009052 name: anal stenosis def: "abnormal narrowing or constriction of the anal orifice" [MGI:anna] synonym: "proctostenosis" EXACT [] synonym: "stricture of the anus" EXACT [] is_a: MP:0005034 ! abnormal anus morphology [Term] id: MP:0009053 name: abnormal anal canal morphology def: "any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters" [MGI:anna] synonym: "abnormal canalis analis" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0009054 name: absent anal canal def: "absence of the terminal portion of the alimentary canal" [MGI:anna] synonym: "agenesis of the anal canal" EXACT [] synonym: "aplasia of the anal canal" EXACT [] is_a: MP:0009053 ! abnormal anal canal morphology [Term] id: MP:0009055 name: abnormal internal anal sphincter morphology def: "any structural anomaly of the smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter" [MGI:anna] synonym: "abnormal internal sphincter muscle of anus" EXACT [] synonym: "abnormal musculus sphincter ani internus" EXACT [] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0009053 ! abnormal anal canal morphology [Term] id: MP:0009056 name: abnormal interleukin-21 secretion def: "anomaly in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells" [MGI:tmeehan] synonym: "abnormal IL-21 secretion" EXACT [] synonym: "abnormal IL21 secretion" EXACT [] is_a: MP:0008568 ! abnormal interleukin secretion [Term] id: MP:0009057 name: increased interleukin-21 secretion def: "increase in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells" [MGI:tmeehan] synonym: "increased IL-21 secretion" EXACT [] synonym: "increased IL21 secretion" EXACT [] is_a: MP:0009056 ! abnormal interleukin-21 secretion [Term] id: MP:0009058 name: decreased interleukin-21 secretion def: "reduction in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells" [MGI:tmeehan] synonym: "decreased IL-21 secretion" EXACT [] synonym: "decreased IL21 secretion" EXACT [] synonym: "reduced IL-21 secretion" EXACT [] synonym: "reduced IL21 secretion" EXACT [] synonym: "reduced interleukin-21 secretion" EXACT [] is_a: MP:0009056 ! abnormal interleukin-21 secretion [Term] id: MP:0009059 name: abnormal circulating interleukin-21 level def: "anomaly in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells" [MGI:tmeehan] synonym: "abnormal circulating IL-21 level" EXACT [] synonym: "abnormal circulating IL21 level" EXACT [] is_a: MP:0008588 ! abnormal circulating interleukin level [Term] id: MP:0009060 name: increased circulating interleukin-21 level def: "increase in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells" [MGI:tmeehan] synonym: "increased circulating IL-21 level" EXACT [] synonym: "increased circulating IL21 level" EXACT [] is_a: MP:0009059 ! abnormal circulating interleukin-21 level [Term] id: MP:0009061 name: decreased circulating interleukin-21 level def: "reduction in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells" [MGI:tmeehan] synonym: "decreased circulating IL-21 level" EXACT [] synonym: "decreased circulating IL21 level" EXACT [] synonym: "reduced circulating IL-21 level" EXACT [] synonym: "reduced circulating IL21 level" EXACT [] is_a: MP:0009059 ! abnormal circulating interleukin-21 level [Term] id: MP:0009062 name: impaired lectin complement pathway def: "abnormal function of the plasma protein cascade triggered by binding of lectin(s) to carbohydrate groups found on pathogen cell surfaces" [MGI:tmeehan] synonym: "impaired lectin mediated complement pathway" EXACT [] synonym: "impaired lectin pathway of complement" EXACT [] is_a: MP:0002471 ! abnormal complement pathway [Term] id: MP:0009063 name: abnormal oviduct size def: "anomaly in the average size of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "abnormal fallopian tube size" EXACT [] synonym: "abnormal salpinges size" EXACT [] synonym: "abnormal salpinx size" EXACT [] synonym: "abnormal salpinx uterina size" EXACT [] synonym: "abnormal tuba fallopiana size" EXACT [] synonym: "abnormal tuba fallopii size" EXACT [] synonym: "abnormal tuba uterina size" EXACT [] synonym: "abnormal uterine tube size" EXACT [] is_a: MP:0003574 ! abnormal oviduct morphology [Term] id: MP:0009064 name: oviduct atrophy def: "acquired diminution of the size of the oviduct associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna, MGI:csmith] synonym: "atrophic fallopian tubes" EXACT [] synonym: "atrophic oviduct" EXACT [] synonym: "fallopian tube atrophy" EXACT [] synonym: "salpinges atrophy" EXACT [] synonym: "salpinx atrophy" EXACT [] synonym: "salpinx uterina atrophy" EXACT [] synonym: "tuba fallopiana atrophy" EXACT [] synonym: "tuba fallopii atrophy" EXACT [] synonym: "tuba uterina atrophy" EXACT [] synonym: "uterine tube atrophy" EXACT [] is_a: MP:0009070 ! small oviduct [Term] id: MP:0009065 name: abnormal oviduct weight def: "anomaly in the average weight of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "abnormal fallopian tube weight" EXACT [] synonym: "abnormal salpinges weight" EXACT [] synonym: "abnormal salpinx uterina weight" EXACT [] synonym: "abnormal salpinx weight" EXACT [] synonym: "abnormal tuba fallopiana weight" EXACT [] synonym: "abnormal tuba fallopii weight" EXACT [] synonym: "abnormal tuba uterina weight" EXACT [] synonym: "abnormal uterine tube weight" EXACT [] is_a: MP:0009063 ! abnormal oviduct size [Term] id: MP:0009066 name: decreased oviduct weight def: "reduction in the average weight of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "decreased fallopian tube weight" EXACT [] synonym: "decreased salpinges weight" EXACT [] synonym: "decreased salpinx uterina weight" EXACT [] synonym: "decreased salpinx weight" EXACT [] synonym: "decreased tuba fallopiana weight" EXACT [] synonym: "decreased tuba fallopii weight" EXACT [] synonym: "decreased tuba uterina weight" EXACT [] synonym: "decreased uterine tube weight" EXACT [] synonym: "reduced fallopian tube weight" EXACT [] synonym: "reduced oviduct weight" EXACT [] synonym: "reduced salpinges weight" EXACT [] synonym: "reduced salpinx uterina weight" EXACT [] synonym: "reduced salpinx weight" EXACT [] synonym: "reduced tuba fallopiana weight" EXACT [] synonym: "reduced tuba fallopii weight" EXACT [] synonym: "reduced tuba uterina weight" EXACT [] synonym: "reduced uterine tube weight" EXACT [] is_a: MP:0009065 ! abnormal oviduct weight is_a: MP:0009070 ! small oviduct [Term] id: MP:0009067 name: increased oviduct weight def: "greater average weight of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "increased fallopian tube weight" EXACT [] synonym: "increased salpinges weight" EXACT [] synonym: "increased salpinx uterina weight" EXACT [] synonym: "increased salpinx weight" EXACT [] synonym: "increased tuba fallopiana weight" EXACT [] synonym: "increased tuba fallopii weight" EXACT [] synonym: "increased tuba uterina weight" EXACT [] synonym: "increased uterine tube weight" EXACT [] is_a: MP:0009065 ! abnormal oviduct weight is_a: MP:0009068 ! enlarged oviduct [Term] id: MP:0009068 name: enlarged oviduct def: "increased size of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "enlarged fallopian tubes" EXACT [] synonym: "enlarged salpinges" EXACT [] synonym: "enlarged salpinx" EXACT [] synonym: "enlarged salpinx uterina" EXACT [] synonym: "enlarged tuba fallopiana" EXACT [] synonym: "enlarged tuba fallopii" EXACT [] synonym: "enlarged tuba uterina" EXACT [] synonym: "enlarged uterine tube" EXACT [] is_a: MP:0009063 ! abnormal oviduct size [Term] id: MP:0009069 name: dilated oviduct def: "an expansion in the volume or area of the tube through which the ova pass from the ovary to the uterus, usually with an increase in contained fluid" [MGI:anna] synonym: "dilated fallopian tubes" EXACT [] synonym: "dilated salpinges" EXACT [] synonym: "dilated salpinx" EXACT [] synonym: "dilated salpinx uterina" EXACT [] synonym: "dilated tuba fallopiana" EXACT [] synonym: "dilated tuba fallopii" EXACT [] synonym: "dilated tuba uterina" EXACT [] synonym: "dilated uterine tube" EXACT [] synonym: "fluid-filled fallopian tube" EXACT [] synonym: "fluid-filled oviduct" EXACT [] synonym: "fluid-filled salpinx" EXACT [] synonym: "fluid-filled uterine tube" EXACT [] synonym: "hydrops tubae" EXACT [] synonym: "hydrosalpinx" EXACT [] synonym: "oviduct dilation" EXACT [] is_a: MP:0009063 ! abnormal oviduct size [Term] id: MP:0009070 name: small oviduct def: "reduced size of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "decreased oviduct size" EXACT [] synonym: "reduced oviduct size" EXACT [] synonym: "small fallopian tubes" EXACT [] synonym: "small salpinges" EXACT [] synonym: "small salpinx" EXACT [] synonym: "small salpinx uterina" EXACT [] synonym: "small tuba fallopiana" EXACT [] synonym: "small tuba fallopii" EXACT [] synonym: "small tuba uterina" EXACT [] synonym: "small uterine tube" EXACT [] is_a: MP:0009063 ! abnormal oviduct size [Term] id: MP:0009071 name: short oviduct def: "length reduction or truncation of the tube through which the ova pass from the ovary to the uterus" [MGI:anna] synonym: "short fallopian tubes" EXACT [] synonym: "short salpinges" EXACT [] synonym: "short salpinx" EXACT [] synonym: "short salpinx uterina" EXACT [] synonym: "short tuba fallopiana" EXACT [] synonym: "short tuba fallopii" EXACT [] synonym: "short tuba uterina" EXACT [] synonym: "short uterine tube" EXACT [] synonym: "truncated fallopian tubes" EXACT [] synonym: "truncated oviduct" EXACT [] synonym: "truncated salpinges" EXACT [] synonym: "truncated salpinx" EXACT [] synonym: "truncated salpinx uterina" EXACT [] synonym: "truncated tuba fallopiana" EXACT [] synonym: "truncated tuba fallopii" EXACT [] synonym: "truncated tuba uterina" EXACT [] synonym: "truncated uterine tube" EXACT [] is_a: MP:0009070 ! small oviduct [Term] id: MP:0009072 name: absent cranial vagina def: "absence of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts" [MGI:anna] synonym: "absent upper vagina" EXACT [] is_a: MP:0009077 ! abnormal cranial vagina morphology [Term] id: MP:0009073 name: absent Wolffian ducts def: "absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [MGI:anna] synonym: "absent archinephric duct" EXACT [] synonym: "absent ductus mesonephricus" EXACT [] synonym: "absent Gartner's duct" EXACT [] synonym: "absent Leydig's duct" EXACT [] synonym: "absent mesonephric duct" EXACT [] synonym: "absent nephric duct" EXACT [] synonym: "absent pronephric duct" EXACT [] synonym: "Wolffian duct agenesis" EXACT [] synonym: "Wolffian duct aplasia" EXACT [] is_a: MP:0003827 ! abnormal Wolffian duct morphology [Term] id: MP:0009074 name: Wolffian duct degeneration def: "a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [MGI:anna] synonym: "archinephric duct degeneration" EXACT [] synonym: "ductus mesonephricus degeneration" EXACT [] synonym: "Gartner's duct degeneration" EXACT [] synonym: "Leydig's duct degeneration" EXACT [] synonym: "mesonephric duct degeneration" EXACT [] synonym: "nephric duct degeneration" EXACT [] synonym: "pronephric duct degeneration" EXACT [] is_a: MP:0003827 ! abnormal Wolffian duct morphology [Term] id: MP:0009075 name: rudimentary Wolffian ducts def: "not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [MGI:anna] synonym: "rudimentary archinephric duct" RELATED [] synonym: "rudimentary ductus mesonephricus" EXACT [] synonym: "rudimentary Gartner's duct" EXACT [] synonym: "rudimentary Leydig's duct" EXACT [] synonym: "rudimentary mesonephric duct" EXACT [] synonym: "rudimentary nephric duct" EXACT [] synonym: "rudimentary pronephric duct " EXACT [] is_a: MP:0003827 ! abnormal Wolffian duct morphology [Term] id: MP:0009076 name: rudimentary Mullerian ducts def: "not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina" [MGI:anna] synonym: "rudimentary Muller ducts" EXACT [] synonym: "rudimentary paramesonephric ducts" EXACT [] is_a: MP:0003826 ! abnormal Mullerian duct morphology [Term] id: MP:0009077 name: abnormal cranial vagina morphology def: "any structural anomaly of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts" [MGI:anna] synonym: "abnormal upper vagina morphology" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0009078 name: adrenal gland hyperplasia def: "overdevelopment or increased size, usually due to a increased number of cells, of the endocrine glands located above the kidney and responsible for hormone and epinephrine secretion" [ISBN:0-683-40008-8] is_a: MP:0000642 ! enlarged adrenal glands [Term] id: MP:0009079 name: prolapsed intervertebral disk def: "extrusion of the cartilaginous and gelatinous structure found between vertebrae" [MGI:mberry] is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0009080 name: uterus inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the uterus" [MGI:anna] synonym: "inflammation of the uterus" EXACT [] synonym: "metritis" EXACT [] synonym: "uterine inflammation" EXACT [] is_a: MP:0002254 ! reproductive system inflammation [Term] id: MP:0009081 name: thin uterus def: "reduced thickness or depth of the female muscular organ of gestation" [MGI:anna] synonym: "thin metra" EXACT [] is_a: MP:0002637 ! small uterus [Term] id: MP:0009082 name: uterus cysts def: "presence of fluid-filled structures inside the lumen of the uterus; usually refers to benign growths" [MGI:anna] synonym: "cystic metra" EXACT [] synonym: "cystic uterus" EXACT [] synonym: "metral cysts" EXACT [] synonym: "uterine cysts" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0009083 name: uterus hypertrophy def: "increase in the bulk size of the female muscular organ of gestation due to cell enlargement" [MGI:anna] synonym: "hypertrophic metra" EXACT [] synonym: "hypertrophic uterus" EXACT [] synonym: "metra hypertrophy" EXACT [] synonym: "metral hypertrophy" EXACT [] synonym: "uterine hypertrophy" EXACT [] is_a: MP:0004906 ! enlarged uterus [Term] id: MP:0009084 name: blind uterus def: "presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina" [MGI:anna] synonym: "blind metra" EXACT [] synonym: "blind uterine body" EXACT [] synonym: "blind-ended uterus" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0009085 name: abnormal uterine horn morphology def: "any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures" [MGI:anna] synonym: "abnormal cornu uteri" EXACT [] synonym: "abnormal metral horn morphology" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0009086 name: blind uterine horn def: "presence of a blind-ended segment or pouch at the junction of the uterine horn and the uterine body; the blind horn is typically distended by fluid" [MGI:anna] synonym: "blind cornu uteri" EXACT [] synonym: "blind metral horn" EXACT [] synonym: "blind-ended uterine horn" EXACT [] is_a: MP:0009085 ! abnormal uterine horn morphology [Term] id: MP:0009087 name: dilated uterine horn def: "an expansion in the volume or area of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet, usually with an increase in contained fluid" [MGI:anna] synonym: "dilated cornu uteri" EXACT [] synonym: "dilated metral horn" EXACT [] synonym: "uterine horn dilation" EXACT [] is_a: MP:0009085 ! abnormal uterine horn morphology [Term] id: MP:0009088 name: thin uterine horn def: "reduced thickness of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet" [MGI:anna] synonym: "thin cornu uteri" EXACT [] synonym: "thin metral horn" EXACT [] is_a: MP:0009085 ! abnormal uterine horn morphology [Term] id: MP:0009089 name: short uterine horn def: "length reduction or truncation of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet" [MGI:anna] synonym: "short cornu uteri" EXACT [] synonym: "short metral horn" EXACT [] synonym: "truncated uterine horn" EXACT [] is_a: MP:0009085 ! abnormal uterine horn morphology [Term] id: MP:0009090 name: myometrium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MGI:anna] synonym: "hypoplastic myometrium" EXACT [] synonym: "myometrial hypoplasia" EXACT [] synonym: "uterine smooth muscle hypoplasia" EXACT [] synonym: "uterus smooth muscle hypoplasia" RELATED [] is_a: MP:0008256 ! abnormal myometrium morphology [Term] id: MP:0009091 name: endometrium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MGI:anna] synonym: "endometrial hypoplasia" EXACT [] synonym: "hypoplastic endometrium" EXACT [] is_a: MP:0004896 ! abnormal endometrium morphology [Term] id: MP:0009092 name: endometrium hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MGI:anna] synonym: "endometrial hyperplasia" EXACT [] synonym: "hyperplastic endometrium" EXACT [] is_a: MP:0004896 ! abnormal endometrium morphology [Term] id: MP:0009093 name: oocyte degeneration def: "a retrogressive impairment of function or destruction of the female germ cells" [MGI:anna] is_a: MP:0006361 ! abnormal female germ cell morphology [Term] id: MP:0009094 name: abnormal endometrial gland morphology def: "any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity" [MGI:anna] synonym: "abnormal glandulae uterinae" EXACT [] synonym: "abnormal uterine glands" EXACT [] is_a: MP:0004896 ! abnormal endometrium morphology [Term] id: MP:0009095 name: abnormal endometrial gland number def: "abnormal number of the simple or branched tubular glands located in the mucous membrane of the uterus" [MGI:anna] is_a: MP:0009094 ! abnormal endometrial gland morphology [Term] id: MP:0009096 name: decreased endometrial gland number def: "fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus" [MGI:anna] synonym: "decreased number of uterine glands" EXACT [] synonym: "reduced endometrial gland number" EXACT [] synonym: "reduced number of uterine glands" EXACT [] is_a: MP:0009095 ! abnormal endometrial gland number [Term] id: MP:0009097 name: absent endometrial glands def: "absence of the simple or branched tubular uterine glands" [MGI:anna] synonym: "absent glandulae uterinae" EXACT [] synonym: "absent uterine glands" EXACT [] is_a: MP:0009095 ! abnormal endometrial gland number [Term] id: MP:0009098 name: anovaginal fistula def: "an abnormal anatomical passage that connects the anal canal and the vagina" [MGI:anna] synonym: "ano-vaginal fistula" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0009099 name: abnormal uterine NK cell physiology def: "any functional anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy" [PMID:14568979, PMID:19800965] synonym: "abnormal decidual natural killer cell physiology" EXACT [] synonym: "abnormal decidual NK cell physiology" EXACT [] synonym: "abnormal dNK cell physiology" EXACT [] synonym: "abnormal GMG cell physiology" EXACT [] synonym: "abnormal granulated metrial gland cell physiology" EXACT [] synonym: "abnormal uNK cell physiology" EXACT [] synonym: "abnormal uterine natural killer cell physiology" EXACT [] xref: CL:0002343 is_a: MP:0009671 ! abnormal uterus physiology is_a: MP:0010766 ! abnormal NK cell physiology [Term] id: MP:0009100 name: abnormal clitoris size def: "anomaly in the size of the small cylindrical erectile body located at the most anterior portion of the vulva" [MGI:anna] is_a: MP:0003127 ! abnormal clitoris morphology [Term] id: MP:0009101 name: clitoris hypoplasia def: "underdevelopment or reduced size of the clitoris, usually due to a reduced number of cells" [MGI:anna] synonym: "clitoral hypoplasia" EXACT [] synonym: "hypoplastic clitoris" EXACT [] is_a: MP:0003530 ! small clitoris [Term] id: MP:0009102 name: abnormal glans penis morphology def: "any structural anomaly of the conic expansion of the corpus spongiosum that forms the head of the penis" [MGI:anna] synonym: "abnormal balanus" EXACT [] is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0009103 name: abnormal penile bone morphology def: "any structural anomaly of the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species" [MGI:anna] synonym: "abnormal baculum" EXACT [] synonym: "abnormal os penis" EXACT [] synonym: "abnormal penis bone" EXACT [] is_a: MP:0009102 ! abnormal glans penis morphology [Term] id: MP:0009104 name: small penile bone def: "size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans" [MGI:anna] synonym: "small baculum" EXACT [] synonym: "small os penis" EXACT [] synonym: "small penial bone" EXACT [] synonym: "truncated penis bone" EXACT [] is_a: MP:0009103 ! abnormal penile bone morphology [Term] id: MP:0009105 name: penis prolapse def: "inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis" [MGI:anna] synonym: "penial prolapse" EXACT [] synonym: "penile prolapse" EXACT [] is_a: MP:0005187 ! abnormal penis morphology [Term] id: MP:0009106 name: abnormal pancreas size def: "anomaly in the average size of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [MESH:A03.734, MGI:csmith] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0009107 name: abnormal pancreas weight def: "anomaly in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [MESH:A03.734, MGI:csmith] is_a: MP:0009106 ! abnormal pancreas size [Term] id: MP:0009108 name: increased pancreas weight def: "increase in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [MESH:A03.734, MGI:csmith] is_a: MP:0003450 ! enlarged pancreas is_a: MP:0009107 ! abnormal pancreas weight [Term] id: MP:0009109 name: decreased pancreas weight def: "reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [MESH:A03.734, MGI:csmith] synonym: "reduced pancreas weight" EXACT [] is_a: MP:0004247 ! small pancreas is_a: MP:0009107 ! abnormal pancreas weight [Term] id: MP:0009110 name: pancreas hyperplasia def: "overdevelopment or increased size of the pancreas, usually due an increased number of cells" [MGI:csmith] synonym: "pancreatic hyperplasia" EXACT [] is_a: MP:0003450 ! enlarged pancreas [Term] id: MP:0009111 name: pancreas hypoplasia def: "underdevelopment or reduced size of the pancreas, usually due to a reduced number of cells" [MGI:csmith] synonym: "pancreatic hypoplasia" EXACT [] is_a: MP:0004247 ! small pancreas [Term] id: MP:0009112 name: abnormal pancreatic beta cell mass def: "anomaly in the total physical bulk or volume of a pancreatic beta cell compared to the normal state" [MGI:csmith] is_a: MP:0005217 ! abnormal pancreatic beta cell morphology [Term] id: MP:0009113 name: increased pancreatic beta cell mass def: "greater total physical bulk or volume of a pancreatic beta cell compared to the normal state" [MGI:csmith] is_a: MP:0009112 ! abnormal pancreatic beta cell mass [Term] id: MP:0009114 name: decreased pancreatic beta cell mass def: "reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state" [MGI:csmith] synonym: "reduced pancreatic beta cell mass" EXACT [] is_a: MP:0009112 ! abnormal pancreatic beta cell mass [Term] id: MP:0009115 name: abnormal fat cell morphology alt_id: MP:0004128 def: "any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449] synonym: "abnormal adipocyte morphology" EXACT [] synonym: "abnormal lipocyte morphology" EXACT [MESH:A11.329.114] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0009116 name: abnormal brown fat cell morphology def: "any structural anomaly of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals; brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation; brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria" [CL:0000449, GO:0050873, MESH:A.10.165.114.322] synonym: "abnormal brown adipocyte morphology" EXACT [] synonym: "abnormal brown lipocyte morphology" EXACT [] is_a: MP:0002971 ! abnormal brown adipose tissue morphology is_a: MP:0009115 ! abnormal fat cell morphology [Term] id: MP:0009117 name: abnormal white fat cell morphology def: "any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole" [MESH:A11.329.114.500] synonym: "abnormal white adipocyte morphology" EXACT [] synonym: "abnormal white lipocyte morphology" EXACT [] is_a: MP:0002970 ! abnormal white adipose tissue morphology is_a: MP:0009115 ! abnormal fat cell morphology [Term] id: MP:0009118 name: increased white fat cell size def: "increase in the size of fat cells with light coloration and few mitochondria" [MGI:csmith] synonym: "increased white adipocyte size" EXACT [] synonym: "increased white lipocyte size" EXACT [] synonym: "white adipocyte hypertrophy" EXACT [] synonym: "white fat cell hypertrophy" EXACT [] synonym: "white lipocyte hypertrophy" EXACT [] is_a: MP:0006094 ! increased fat cell size is_a: MP:0009132 ! abnormal white fat cell size [Term] id: MP:0009119 name: increased brown fat cell size def: "increase in the size of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322] synonym: "brown adipocyte hypertrophy" EXACT [] synonym: "brown fat cell hypertrophy" EXACT [] synonym: "brown lipocyte hypertrophy" EXACT [] synonym: "increased brown adipocyte size" EXACT [] synonym: "increased brown lipocyte size" EXACT [] is_a: MP:0006094 ! increased fat cell size is_a: MP:0009135 ! abnormal brown fat cell size [Term] id: MP:0009120 name: abnormal white fat cell lipid droplet size def: "anomaly in the size of the single large lipid droplet or vacuole of white fat cells" [MGI:csmith] synonym: "abnormal white adipocyte lipid droplet size" EXACT [] synonym: "abnormal white lipocyte lipid droplet size" EXACT [] is_a: MP:0009117 ! abnormal white fat cell morphology [Term] id: MP:0009121 name: increased white fat cell lipid droplet size def: "increase in the size of the single large lipid droplet or vacuole of white fat cells" [MGI:csmith] synonym: "increased white adipocyte lipid droplet size" EXACT [] synonym: "increased white lipocyte lipid droplet size" EXACT [] is_a: MP:0009120 ! abnormal white fat cell lipid droplet size [Term] id: MP:0009122 name: decreased white fat cell lipid droplet size def: "reduction in the size of the single large lipid droplet or vacuole of white fat cells" [MGI:csmith] synonym: "decreased white adipocyte lipid droplet size" EXACT [] synonym: "decreased white lipocyte lipid droplet size" EXACT [] synonym: "reduced white adipocyte lipid droplet size" EXACT [] synonym: "reduced white fat cell lipid droplet size" EXACT [] synonym: "reduced white lipocyte lipid droplet size" EXACT [] is_a: MP:0009120 ! abnormal white fat cell lipid droplet size [Term] id: MP:0009123 name: abnormal brown fat cell lipid droplet size def: "anomaly in the size of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith] synonym: "abnormal brown adipocyte lipid droplet size" EXACT [] synonym: "abnormal brown lipocyte lipid droplet size" EXACT [] is_a: MP:0009116 ! abnormal brown fat cell morphology [Term] id: MP:0009124 name: increased brown fat cell lipid droplet size def: "increase in the size of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith] synonym: "increased brown adipocyte lipid droplet size" EXACT [] synonym: "increased brown lipocyte lipid droplet size" EXACT [] is_a: MP:0009123 ! abnormal brown fat cell lipid droplet size [Term] id: MP:0009125 name: decreased brown fat cell lipid droplet size def: "reduction in the size of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith] synonym: "decreased brown adipocyte lipid droplet size" EXACT [] synonym: "decreased brown lipocyte lipid droplet size" EXACT [] synonym: "reduced brown adipocyte lipid droplet size" EXACT [] synonym: "reduced brown fat cell lipid droplet size" EXACT [] synonym: "reduced brown lipocyte lipid droplet size" EXACT [] is_a: MP:0009123 ! abnormal brown fat cell lipid droplet size [Term] id: MP:0009126 name: abnormal brown fat cell number def: "anomaly in the number of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322, MGI:csmith] synonym: "abnormal brown adipocyte cell number" EXACT [] synonym: "abnormal brown lipocyte cell number" EXACT [] is_a: MP:0009116 ! abnormal brown fat cell morphology [Term] id: MP:0009127 name: increased brown fat cell number def: "increase in the number of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322, MGI:csmith] synonym: "increased brown adipocyte cell number" EXACT [] synonym: "increased brown lipocyte cell number" EXACT [] is_a: MP:0009126 ! abnormal brown fat cell number [Term] id: MP:0009128 name: decreased brown fat cell number def: "reduction in the number of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322, MGI:csmith] synonym: "decreased brown adipocyte cell number" EXACT [] synonym: "decreased brown lipocyte cell number" EXACT [] synonym: "reduced brown adipocyte cell number" EXACT [] synonym: "reduced brown fat cell number" EXACT [] synonym: "reduced brown lipocyte cell number" EXACT [] is_a: MP:0009126 ! abnormal brown fat cell number [Term] id: MP:0009129 name: abnormal white fat cell number def: "anomaly in the number of fat cells with light coloration and few mitochondria" [MGI:csmith] synonym: "abnormal white adipocyte cell number" EXACT [] synonym: "abnormal white lipocyte cell number" EXACT [] is_a: MP:0009117 ! abnormal white fat cell morphology [Term] id: MP:0009130 name: increased white fat cell number def: "increase in the number of fat cells with light coloration and few mitochondria" [MGI:csmith] synonym: "increased white adipocyte cell number" EXACT [] synonym: "increased white lipocyte cell number" EXACT [] is_a: MP:0009129 ! abnormal white fat cell number [Term] id: MP:0009131 name: decreased white fat cell number def: "reduction in the number of fat cells with light coloration and few mitochondria" [MGI:csmith] synonym: "decreased white adipocyte cell number" EXACT [] synonym: "decreased white lipocyte cell number" EXACT [] synonym: "reduced white adipocyte cell number" EXACT [] synonym: "reduced white fat cell number" EXACT [] synonym: "reduced white lipocyte cell number" EXACT [] is_a: MP:0009129 ! abnormal white fat cell number [Term] id: MP:0009132 name: abnormal white fat cell size def: "anomaly in the size of fat cells with light coloration and few mitochondria" [MGI:csmith] synonym: "abnormal white adipocyte size" EXACT [] synonym: "abnormal white lipocyte size" EXACT [] is_a: MP:0009117 ! abnormal white fat cell morphology [Term] id: MP:0009133 name: decreased white fat cell size def: "reduction in the size of fat cells with light coloration and few mitochondria" [MGI:csmith] synonym: "decreased white adipocyte size" EXACT [] synonym: "decreased white lipocyte size" EXACT [] synonym: "reduced white adipocyte size" EXACT [] synonym: "reduced white fate cell size" EXACT [] synonym: "reduced white lipocyte size" EXACT [] synonym: "white adipocyte hypotrophy" EXACT [] synonym: "white fat cell hypotrophy" EXACT [] synonym: "white lipocyte hypotrophy" EXACT [] is_a: MP:0009132 ! abnormal white fat cell size is_a: MP:0009269 ! decreased fat cell size [Term] id: MP:0009134 name: abnormal brown fat lipid droplet number def: "anomaly in the number of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith] is_a: MP:0009116 ! abnormal brown fat cell morphology [Term] id: MP:0009135 name: abnormal brown fat cell size def: "anomaly in the size of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322] synonym: "abnormal brown adipocyte size" EXACT [] synonym: "abnormal brown lipocyte size" EXACT [] is_a: MP:0009116 ! abnormal brown fat cell morphology [Term] id: MP:0009136 name: decreased brown fat cell size def: "reduction in the size of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322] synonym: "brown adipocyte hypotrophy" EXACT [] synonym: "brown fat cell hypotrophy" EXACT [] synonym: "brown lipocyte hypotrophy" EXACT [] synonym: "decreased brown adipocyte size" EXACT [] synonym: "decreased brown lipocyte size" EXACT [] synonym: "reduced brown adipocyte size" EXACT [] synonym: "reduced brown fat cell size" EXACT [] synonym: "reduced brown lipocyte size" EXACT [] is_a: MP:0009135 ! abnormal brown fat cell size is_a: MP:0009269 ! decreased fat cell size [Term] id: MP:0009137 name: decreased brown fat lipid droplet number def: "reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith] synonym: "decreased brown adipocyte lipid droplet number" EXACT [] synonym: "decreased brown lipocyte lipid droplet number" EXACT [] synonym: "reduced brown adipocyte lipid droplet number" EXACT [] synonym: "reduced brown fat lipid droplet number" EXACT [] synonym: "reduced brown lipocyte lipid droplet number" EXACT [] is_a: MP:0009134 ! abnormal brown fat lipid droplet number [Term] id: MP:0009138 name: increased brown fat lipid droplet number def: "increase in the number of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith] synonym: "increased brown adipocyte lipid droplet number" EXACT [] synonym: "increased brown lipocyte lipid droplet number" EXACT [] is_a: MP:0009134 ! abnormal brown fat lipid droplet number [Term] id: MP:0009139 name: failure of Mullerian duct regression def: "failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males" [MGI:anna] synonym: "non-regressed Mullerian ducts" EXACT [] synonym: "persistence of Mullerian ducts in males" EXACT [] synonym: "persistent Mullerian ducts" EXACT [] is_a: MP:0003826 ! abnormal Mullerian duct morphology [Term] id: MP:0009140 name: dilated efferent ductules of testis def: "an expansion in the volume or area of the lumen of the small seminal ducts that lead from the testis to the head of the epididymis, usually with an increase in contained fluid" [MGI:anna] synonym: "dilated ductuli efferentes testis" EXACT [] synonym: "dilated efferent ducts" EXACT [] synonym: "dilated vas efferens" EXACT [] synonym: "efferent ductules of testis dilation" EXACT [] is_a: MP:0004728 ! abnormal efferent ductules of testis morphology [Term] id: MP:0009141 name: increased prepulse inhibition def: "increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb] subset: Europhenome_Terms synonym: "increased PPI" EXACT [] is_a: MP:0003088 ! abnormal prepulse inhibition [Term] id: MP:0009142 name: decreased prepulse inhibition def: "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb] subset: Europhenome_Terms synonym: "decreased PPI" EXACT [] synonym: "reduced PPI" EXACT [] synonym: "reduced prepulse inhibition" EXACT [] is_a: MP:0003088 ! abnormal prepulse inhibition [Term] id: MP:0009143 name: abnormal pancreatic duct morphology def: "any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8, MESH:A03.734.667] synonym: "abnormal duct of Wirsung morphology" EXACT [] synonym: "abnormal ductus pancreaticus morphology" EXACT [] synonym: "abnormal Hoffmann duct morphology" EXACT [] synonym: "abnormal Wirsung canal morphology" EXACT [] synonym: "abnormal Wirsung's duct morphology" EXACT [] is_a: MP:0005220 ! abnormal exocrine pancreas morphology [Term] id: MP:0009144 name: dilated pancreatic duct def: "an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8, MESH:A03.734.667] synonym: "dilated duct of Wirsung" EXACT [] synonym: "dilated ductus pancreaticus" EXACT [] synonym: "dilated Hoffmann duct" EXACT [] synonym: "dilated Wirsung canal" EXACT [] synonym: "dilated Wirsung's duct" EXACT [] synonym: "pancreatic duct dilation" EXACT [] is_a: MP:0009143 ! abnormal pancreatic duct morphology [Term] id: MP:0009145 name: abnormal pancreatic acinus morphology def: "any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct" [ISBN:0-683-40008-8] synonym: "abnormal pancreatic acini" EXACT [] is_a: MP:0005220 ! abnormal exocrine pancreas morphology [Term] id: MP:0009146 name: abnormal pancreatic acinar cell morphology def: "any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal pancreatic exocrine cell morphology" BROAD [] is_a: MP:0009145 ! abnormal pancreatic acinus morphology [Term] id: MP:0009147 name: abnormal pancreatic acinar cell physiology def: "any functional anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0010148 ! abnormal exocrine pancreas physiology [Term] id: MP:0009148 name: pancreas necrosis def: "pathological cell death in the pancreas, usually due to irreversible damage" [MGI:csmith] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0009149 name: decreased pancreatic acinar cell number def: "reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8, MGI:csmith] synonym: "acinar cell hypoplasia" EXACT [] synonym: "decreased pancreatic exocrine cell number" BROAD [] synonym: "reduced pancreatic acinar cell number" EXACT [] synonym: "reduced pancreatic exocrine cell number" BROAD [] is_a: MP:0009146 ! abnormal pancreatic acinar cell morphology [Term] id: MP:0009150 name: pancreatic acinar cell atrophy def: "acquired diminution of the pancreatic acinar cells associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "pancreatic exocrine cell atrophy" BROAD [] is_a: MP:0009146 ! abnormal pancreatic acinar cell morphology [Term] id: MP:0009151 name: pancreatic ductal adenocarcinoma def: "adenocarcinoma that arises from the pancreatic ducts" [MESH:C04.557.470.200.025.232.750] synonym: "pancreatic duct cell carcinoma" EXACT [] synonym: "PDAC" EXACT [] is_a: MP:0009153 ! increased pancreas tumor incidence is_a: MP:0009308 ! adenocarcinoma [Term] id: MP:0009152 name: pancreatic intraepithelial neoplasia def: "noninvasive pancreatic duct lesions that affect smaller caliber ducts and do not involve the main pancreatic duct" [PMID:11342768] synonym: "PanIN" EXACT [] is_a: MP:0009153 ! increased pancreas tumor incidence [Term] id: MP:0009153 name: increased pancreas tumor incidence def: "greater than the expected number of neoplams in the pancreas occurring in a specific population in a given time period" [MGI:csmith] synonym: "pancreas cancer" EXACT [] synonym: "pancreas neoplasms" EXACT [] synonym: "pancreatic cancer" EXACT [] synonym: "pancreatic neoplasms" EXACT [] synonym: "pancreatic tumor" EXACT [] is_a: MP:0010288 ! increased gland tumor incidence [Term] id: MP:0009154 name: pancreatic acinar hypoplasia def: "underdevelopment or reduced size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to a decreased cell number" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0009145 ! abnormal pancreatic acinus morphology [Term] id: MP:0009155 name: pancreatic acinar hyperplasia def: "overdevelopment or increased size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to an increased cell number" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0009145 ! abnormal pancreatic acinus morphology [Term] id: MP:0009156 name: absent pancreatic acini def: "absence of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct" [ISBN:0-683-40008-8] is_a: MP:0009145 ! abnormal pancreatic acinus morphology [Term] id: MP:0009157 name: ectopic pancreatic acinar cells def: "abnormal position of one or more of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8] synonym: "ectopic pancreatic exocrine cells" RELATED [] is_a: MP:0009146 ! abnormal pancreatic acinar cell morphology [Term] id: MP:0009158 name: absent pancreatic acinar cells def: "absence of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8] synonym: "absent pancreatic exocrine cell" BROAD [] is_a: MP:0009146 ! abnormal pancreatic acinar cell morphology [Term] id: MP:0009159 name: increased pancreatic acinar cell number def: "increased number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8] synonym: "acinar cell hyperplasia" EXACT [] synonym: "increased pancreatic exocrine cell number" BROAD [] is_a: MP:0009146 ! abnormal pancreatic acinar cell morphology [Term] id: MP:0009160 name: abnormal pancreatic acinar cell zymogen granule morphology def: "any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors" [MGI:csmith] is_a: MP:0009146 ! abnormal pancreatic acinar cell morphology [Term] id: MP:0009161 name: pancreatic acinar cell zymogen granule accumulation def: "a gradually increasing number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors" [MGI:csmith] is_a: MP:0009160 ! abnormal pancreatic acinar cell zymogen granule morphology [Term] id: MP:0009162 name: absent pancreatic acinar cell zymogen granule def: "absence of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors" [MGI:csmith] is_a: MP:0009160 ! abnormal pancreatic acinar cell zymogen granule morphology [Term] id: MP:0009163 name: absent pancreatic duct def: "absence of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8, MESH:A03.734.667] synonym: "absent duct of Wirsung" EXACT [] synonym: "absent ductus pancreaticus" EXACT [] synonym: "absent Hoffmann duct" EXACT [] synonym: "absent Wirsung canal" EXACT [] synonym: "absent Wirsung's duct" EXACT [] is_a: MP:0009143 ! abnormal pancreatic duct morphology [Term] id: MP:0009164 name: exocrine pancreas atrophy def: "acquired diminution of the size of the acinar gland portion of the pancreas that secretes digestive enzymes, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:csmith] synonym: "atrophic exocrine pancreas" EXACT [] is_a: MP:0005220 ! abnormal exocrine pancreas morphology [Term] id: MP:0009165 name: abnormal endocrine pancreas morphology def: "any structural anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans" [MESH:A03.734] is_a: MP:0001944 ! abnormal pancreas morphology [Term] id: MP:0009166 name: abnormal pancreatic islet number def: "anomaly in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "abnormal islands of Langerhans number" EXACT [] synonym: "abnormal islet cell number" EXACT [] synonym: "abnormal islet of Langerhans number" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0009167 name: increased pancreatic islet number def: "increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "increased islands of Langerhans number" EXACT [] synonym: "increased islet cell number" EXACT [] synonym: "increased islet of Langerhans number" EXACT [] is_a: MP:0009166 ! abnormal pancreatic islet number [Term] id: MP:0009168 name: decreased pancreatic islet number def: "reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "decreased islands of Langerhans number" EXACT [] synonym: "decreased islet cell number" EXACT [] synonym: "decreased islet of Langerhans number" EXACT [] synonym: "reduced islands of Langerhans number" EXACT [] synonym: "reduced islet cell number" EXACT [] synonym: "reduced islet of Langerhans number" EXACT [] is_a: MP:0009166 ! abnormal pancreatic islet number [Term] id: MP:0009169 name: pancreatic islet hypoplasia def: "underdevelopment or decreased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an decreased number of cells" [MA:0000127, MESH:A03.734.414] is_a: MP:0009172 ! small pancreatic islets [Term] id: MP:0009170 name: abnormal pancreatic islet size def: "anomaly in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "abnormal islands of Langerhans size" EXACT [] synonym: "abnormal islet cell size" EXACT [] synonym: "abnormal islet of Langerhans size" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0009171 name: enlarged pancreatic islets def: "increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "enlarged islands of Langerhans" EXACT [] synonym: "enlarged islet cell" EXACT [] synonym: "enlarged islet of Langerhans" EXACT [] synonym: "increased islands of Langerhans size" EXACT [] synonym: "increased islet cell size" EXACT [] synonym: "increased islet of Langerhans size" EXACT [] is_a: MP:0009170 ! abnormal pancreatic islet size [Term] id: MP:0009172 name: small pancreatic islets def: "decrease in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "decreased islands of Langerhans size" EXACT [] synonym: "decreased islet cell size" EXACT [] synonym: "decreased islet of Langerhans size" EXACT [] synonym: "reduced islands of Langerhans size" EXACT [] synonym: "reduced islet cell size" EXACT [] synonym: "reduced islet of Langerhans size" EXACT [] synonym: "small islands of Langerhans" EXACT [] synonym: "small islet cell" EXACT [] synonym: "small islet of Langerhans" EXACT [] is_a: MP:0009170 ! abnormal pancreatic islet size [Term] id: MP:0009173 name: absent pancreatic islets def: "absence of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414] synonym: "absent islands of Langerhans" EXACT [] synonym: "absent islet cell" EXACT [] synonym: "absent islet of Langerhans" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0009174 name: absent pancreatic beta cells def: "absence of the cells of the pancreas that secrete insulin" [MESH:A03.734.414.131] synonym: "absent insulin-secreting cells" EXACT [] synonym: "absent pancreatic B cells" EXACT [] is_a: MP:0003339 ! decreased pancreatic beta cell number [Term] id: MP:0009175 name: abnormal pancreatic beta cell differentiation def: "atypical production of or inability to produce the cells of the pancreas that secrete insulin, and/or accumulation of pancreatic beta cell precursors" [MESH:A03.734.414.131] synonym: "abnormal insulin-secreting cell differentiation" EXACT [] synonym: "abnormal pancreatic B cell differentiation" EXACT [] is_a: MP:0003934 ! abnormal pancreas development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0005217 ! abnormal pancreatic beta cell morphology [Term] id: MP:0009176 name: increased pancreatic alpha cell number def: "increase in the number of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065] synonym: "increased glucagon-secreting cell number" EXACT [] synonym: "increased pancreas alpha cell number" EXACT [] synonym: "increased pancreatic A cell number" EXACT [] is_a: MP:0005216 ! abnormal pancreatic alpha cell morphology [Term] id: MP:0009177 name: decreased pancreatic alpha cell number def: "reduction in the number of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065] synonym: "decreased glucagon-secreting cell number" EXACT [] synonym: "decreased pancreatic A cell number" EXACT [] synonym: "reduced glucagon-secreting cell number" EXACT [] synonym: "reduced pancreatic A cell number" EXACT [] synonym: "reduced pancreatic alpha cell number" EXACT [] is_a: MP:0005216 ! abnormal pancreatic alpha cell morphology [Term] id: MP:0009178 name: absent pancreatic alpha cells def: "absence of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065] synonym: "absent glucagon-secreting cell" EXACT [] synonym: "absent pancreatic A cell" EXACT [] is_a: MP:0009177 ! decreased pancreatic alpha cell number [Term] id: MP:0009179 name: abnormal pancreatic alpha cell differentiation def: "atypical production of or inability to produce the cells of the pancreas that secrete glucagon, and/or accumulation of pancreatic alpha cell precursors" [MESH:A03.734.414.065] synonym: "abnormal glucagon-secreting cell differentiation" EXACT [] synonym: "abnormal pancreatic A cell differentiation" EXACT [] is_a: MP:0003934 ! abnormal pancreas development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0005216 ! abnormal pancreatic alpha cell morphology [Term] id: MP:0009180 name: increased pancreatic delta cell number def: "increased number of the cells found in the pancreas that secrete somatostatin" [MESH:A03.556.875.875.440.854] synonym: "increased D cell number" EXACT [] synonym: "increased pancreatic D cell number" EXACT [] synonym: "increased somatostatin-secreting cell number" EXACT [] is_a: MP:0005218 ! abnormal pancreatic delta cell morphology [Term] id: MP:0009181 name: decreased pancreatic delta cell number def: "reduced number of the cells found in the pancreas that secrete somatostatin" [MESH:A03.556.875.875.440.854] synonym: "decreased D cell number" EXACT [] synonym: "decreased pancreatic D cell number" EXACT [] synonym: "decreased somatostatin-secreting cell number" EXACT [] synonym: "reduced D cell number" EXACT [] synonym: "reduced pancreatic D cell number" EXACT [] synonym: "reduced somatostatin-secreting cell number" EXACT [] is_a: MP:0005218 ! abnormal pancreatic delta cell morphology [Term] id: MP:0009182 name: absent pancreatic delta cells def: "absence of the cells found in the pancreas that secrete somatostatin" [MESH:A03.556.875.875.440.854] synonym: "absent D cells" EXACT [] synonym: "absent pancreatic D cells" BROAD [] synonym: "absent somatostatin-secreting cells" EXACT [] is_a: MP:0009181 ! decreased pancreatic delta cell number [Term] id: MP:0009183 name: abnormal pancreatic delta cell differentiation def: "atypical production of or inability to produce the cells found in the pancreas that secrete somatostatin, and/or accumulation of pancreatic delta cell precursors" [MESH:A03.556.875.875.440.854] synonym: "abnormal D cell differentiation" EXACT [] synonym: "abnormal pancreatic D cell differentiation" EXACT [] synonym: "abnormal somatostatin-secreting cell differentiation" EXACT [] is_a: MP:0003934 ! abnormal pancreas development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0005218 ! abnormal pancreatic delta cell morphology [Term] id: MP:0009184 name: abnormal PP cell morphology def: "any structural anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas" [CL:0000696, MESH:A03.734.414.587] synonym: "abnormal F cell morphology" EXACT [] synonym: "abnormal pancreatic polypeptide cell morphology" EXACT [] synonym: "abnormal pancreatic polypeptide-secreting cell morphology" EXACT [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0009185 name: increased PP cell number def: "increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas" [CL:0000696, MESH:A03.734.414.587] synonym: "increased F cell number" EXACT [] synonym: "increased pancreatic polypeptide cell number" EXACT [] synonym: "increased pancreatic polypeptide-secreting cell number" EXACT [] is_a: MP:0009184 ! abnormal PP cell morphology [Term] id: MP:0009186 name: decreased PP cell number def: "reduced number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas" [CL:0000696, MESH:A03.734.414.587] synonym: "decreased F cell number" EXACT [] synonym: "decreased pancreatic polypeptide cell number" EXACT [] synonym: "decreased pancreatic polypeptide-secreting cell number" EXACT [] synonym: "reduced F cell number" EXACT [] synonym: "reduced pancreatic polypeptide cell number" EXACT [] synonym: "reduced pancreatic polypeptide-secreting cell number" EXACT [] is_a: MP:0009184 ! abnormal PP cell morphology [Term] id: MP:0009187 name: absent PP cells def: "absence of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas" [CL:0000696, MESH:A03.734.414.587] synonym: "absent F cells" EXACT [] synonym: "absent pancreatic polypeptide cells" EXACT [] synonym: "absent pancreatic polypeptide-secreting cells" EXACT [] is_a: MP:0009186 ! decreased PP cell number [Term] id: MP:0009188 name: abnormal PP cell differentiation def: "atypical production of or inability to produce the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas, and/or accumulation of PP cell precursors" [CL:0000696, MESH:A03.734.414.587] synonym: "abnormal F cell differentiation" EXACT [] synonym: "abnormal pancreatic polypeptide cell differentiation" EXACT [] synonym: "abnormal pancreatic polypeptide-secreting cell differentiation" EXACT [] is_a: MP:0003934 ! abnormal pancreas development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0009184 ! abnormal PP cell morphology [Term] id: MP:0009189 name: abnormal pancreatic epsilon cell morphology def: "any structural anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin" [PMID:14970313] synonym: "abnormal ghrelin-secreting cell morphology" BROAD [] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0009190 name: increased pancreatic epsilon cell number def: "increase in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin" [PMID:14970313] synonym: "increased ghrelin-secreting cell number" BROAD [] is_a: MP:0009189 ! abnormal pancreatic epsilon cell morphology [Term] id: MP:0009191 name: decreased pancreatic epsilon cell number def: "reduction in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin" [PMID:14970313] synonym: "decreased ghrelin-secreting cell number" BROAD [] synonym: "reduced ghrelin-secreting cell number" BROAD [] is_a: MP:0009189 ! abnormal pancreatic epsilon cell morphology [Term] id: MP:0009192 name: absent pancreatic epsilon cells def: "absence of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin" [PMID:14970313] synonym: "absent ghrelin-secreting cell" BROAD [] is_a: MP:0009191 ! decreased pancreatic epsilon cell number [Term] id: MP:0009193 name: abnormal pancreatic epsilon cell differentiation def: "atypical production of or inability to produce the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin, and/or accumulation of pancreatic epsilon cell precursors" [PMID:14970313] synonym: "abnormal ghrelin-secreting cell differentiation" BROAD [] is_a: MP:0003934 ! abnormal pancreas development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0009189 ! abnormal pancreatic epsilon cell morphology [Term] id: MP:0009194 name: abnormal pancreatic epsilon cell physiology def: "any functional anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin" [PMID:14970313] synonym: "abnormal ghrelin-secreting cell physiology" BROAD [] is_a: MP:0010147 ! abnormal endocrine pancreas physiology [Term] id: MP:0009195 name: abnormal PP cell physiology def: "any functional anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas" [CL:0000696, MESH:A03.734.414.587] synonym: "abnormal F cell physiology" EXACT [] synonym: "abnormal pancreatic polypeptide cell physiology" EXACT [] synonym: "abnormal pancreatic polypeptide-secreting cell physiology" EXACT [] is_a: MP:0010147 ! abnormal endocrine pancreas physiology [Term] id: MP:0009196 name: abnormal pancreatic ghrelin secretion def: "anomaly in the production and/or regulated release from pancreatic epsilon cells of a 28-amino acid, acylated, orexigenic peptide that acts centrally to stimulate growth hormone secretion and food intake, and peripherally to regulate energy homeostasis; it is cleaved from a large precursor protein, known as appetite-regulating hormone or motilin-related peptide, which contains both ghrelin and obestatin" [MESH:D06.472.699.301] is_a: MP:0002694 ! abnormal pancreas secretion is_a: MP:0009194 ! abnormal pancreatic epsilon cell physiology [Term] id: MP:0009197 name: abnormal pancreatic polypeptide secretion def: "anomaly in the production and/or regulated release of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite" [ISBN:0-683-40008-8, MESH:D06.472.699.587.700] synonym: "abnormal pancreatic polypeptide hormone secretion" EXACT [] synonym: "abnormal pancreatic prohormone secretion" EXACT [] synonym: "abnormal PP secretion" EXACT [] is_a: MP:0002694 ! abnormal pancreas secretion is_a: MP:0009195 ! abnormal PP cell physiology [Term] id: MP:0009198 name: abnormal male genitalia morphology def: "any structural anomaly of the masculine organs of reproduction or generation, external or internal" [MGI:anna] synonym: "abnormal male genitals" EXACT [] synonym: "abnormal male organa genitalia" EXACT [] synonym: "abnormal masculine genital organs" EXACT [] is_a: MP:0001145 ! abnormal male reproductive system morphology [Term] id: MP:0009199 name: abnormal external male genitalia morphology def: "any structural anomaly of the external masculine genital organs, including the penis and scrotum" [MGI:anna] subset: Sanger_Terms synonym: "abnormal external male genitals" EXACT [] synonym: "abnormal external male organa genitalia" EXACT [] synonym: "abnormal external masculine genital organs" EXACT [] synonym: "abnormal organa genitalia masculina externa" EXACT [] is_a: MP:0009198 ! abnormal male genitalia morphology [Term] id: MP:0009200 name: enlarged external male genitalia def: "increased size of the external masculine genital organs, including the penis and scrotum" [MGI:anna] synonym: "enlarged external male genitals" EXACT [] synonym: "large external male organa genitalia" EXACT [] synonym: "large external masculine genital organs" EXACT [] synonym: "large organa genitalia masculina externa" EXACT [] is_a: MP:0009199 ! abnormal external male genitalia morphology [Term] id: MP:0009201 name: external male genitalia atrophy def: "acquired diminution of the size of the external masculine genital organs, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna, MGI:csmith] synonym: "atrophic external male genitals" EXACT [] synonym: "external male genital atrophy" EXACT [] synonym: "external male organa genitalia atrophy" EXACT [] synonym: "external masculine genital organ atrophy" EXACT [] synonym: "organa genitalia masculina externa atrophy" EXACT [] is_a: MP:0009202 ! small external male genitalia [Term] id: MP:0009202 name: small external male genitalia def: "reduced size of the external masculine genital organs" [MGI:anna] synonym: "decreased external male genitalia size" EXACT [] synonym: "reduced external male genitalia size" EXACT [] synonym: "small external male genitals" EXACT [] synonym: "small external male organa genitalia" EXACT [] synonym: "small external masculine genital organs" EXACT [] synonym: "small organa genitalia masculina externa" EXACT [] is_a: MP:0009199 ! abnormal external male genitalia morphology [Term] id: MP:0009203 name: external male genitalia hypoplasia def: "underdevelopment or reduced size of the external masculine genital organs, usually due to a reduced number of cells" [MGI:anna] synonym: "external male genital hypoplasia" EXACT [] synonym: "external male organa genitalia hypoplasia" EXACT [] synonym: "external masculine genital organ hypoplasia" EXACT [] synonym: "hypoplastic external male genitalia" EXACT [] synonym: "organa genitalia masculina externa hypoplasia" EXACT [] is_a: MP:0009202 ! small external male genitalia [Term] id: MP:0009204 name: absent external male genitalia def: "absence of the external masculine genital organs, including the penis and scrotum" [MGI:csmith] subset: Sanger_Terms synonym: "absent external male genitals" EXACT [] synonym: "absent external male organa genitalia" EXACT [] synonym: "absent external masculine genital organs" EXACT [] synonym: "absent organa genitalia masculina externa" EXACT [] is_a: MP:0009199 ! abnormal external male genitalia morphology [Term] id: MP:0009205 name: abnormal internal male genitalia morphology def: "any structural anomaly of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands" [MGI:anna] synonym: "abnormal internal male genital organs" EXACT [] synonym: "abnormal internal male genitals" EXACT [] synonym: "abnormal organa genitalia masculina interna" EXACT [] is_a: MP:0009198 ! abnormal male genitalia morphology [Term] id: MP:0009206 name: absent internal male genitalia def: "absence of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands" [MGI:anna] synonym: "absent internal male genital organs" EXACT [] synonym: "absent internal male genitals" EXACT [] synonym: "absent organa genitalia masculina interna" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0009207 name: internal male genitalia hypoplasia def: "underdevelopment or reduced size of the internal masculine genital organs, usually due to a reduced number of cells" [MGI:anna] synonym: "hypoplastic internal male genitalia" EXACT [] synonym: "internal male genital hypoplasia" EXACT [] synonym: "internal male genital organ hypoplasia" EXACT [] synonym: "organa genitalia masculina interna hypoplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0009208 name: abnormal female genitalia morphology def: "any structural anomaly of the feminine organs of reproduction or generation, external or internal" [MGI:anna] synonym: "abnormal female genitals" EXACT [] synonym: "abnormal female organa genitalia" EXACT [] synonym: "abnormal feminine genital organs" EXACT [] is_a: MP:0001119 ! abnormal female reproductive system morphology [Term] id: MP:0009209 name: abnormal internal female genitalia morphology def: "any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina" [MGI:anna] synonym: "abnormal internal female genital organs" EXACT [] synonym: "abnormal internal female genitals" EXACT [] synonym: "abnormal organa genitalia feminina interna" EXACT [] is_a: MP:0009208 ! abnormal female genitalia morphology [Term] id: MP:0009210 name: absent internal female genitalia def: "absence of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina" [MGI:anna] synonym: "absent internal female genital organs" EXACT [] synonym: "absent internal female genitals" EXACT [] synonym: "absent organa genitalia feminina interna" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0009211 name: absent external female genitalia def: "absence of the external feminine genital organs, collectively known as the vulva" [MGI:anna] subset: Sanger_Terms synonym: "absent cunnus" EXACT [] synonym: "absent external female genital organs" EXACT [] synonym: "absent external female genitals" EXACT [] synonym: "absent organa genitalia feminina externa" EXACT [] synonym: "absent vulva" EXACT [] synonym: "missing external female genitals" EXACT [] synonym: "vulval agenesis" EXACT [] synonym: "vulval aplasia" EXACT [] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0009212 name: vulva atrophy def: "acquired diminution of the size of the external feminine genital organs, collectively known as the vulva, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna, MGI:csmith] synonym: "atrophic cunnus" EXACT [] synonym: "atrophic external female genital organs" EXACT [] synonym: "atrophic external female genitals" EXACT [] synonym: "atrophic organa genitalia feminina externa" EXACT [] synonym: "atrophic vulva" EXACT [] synonym: "cunnus atrophy" EXACT [] synonym: "vulval atrophy" EXACT [] is_a: MP:0003527 ! small vulva [Term] id: MP:0009213 name: absent male inguinal canal def: "absence of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels normally pass from the pelvic cavity to the scrotum" [MGI:anna] synonym: "absent male abdominal canal" EXACT [] synonym: "absent male canalis inguinalis" EXACT [] synonym: "absent male Velpeau canal" EXACT [] is_a: MP:0008016 ! abnormal male inguinal canal morphology [Term] id: MP:0009214 name: vas deferens hypoplasia def: "underdevelopment or reduced size of the vas deferens, usually due to a reduced number of cells" [MGI:anna] synonym: "ductus deferens hypoplasia" EXACT [] synonym: "hypoplastic ductus deferens" EXACT [] synonym: "hypoplastic vas deferens" EXACT [] is_a: MP:0002769 ! abnormal vas deferens morphology [Term] id: MP:0009215 name: absent uterine horn def: "absence of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet" [MGI:anna] synonym: "absent cornu uteri" EXACT [] synonym: "absent metral horn" EXACT [] synonym: "missing uterine horn" EXACT [] is_a: MP:0009085 ! abnormal uterine horn morphology [Term] id: MP:0009216 name: abnormal peritoneum morphology def: "any structural anomaly of the serous sac, consisting of mesothelium and a thin external layer of irregular connective tissue, that lines the abdominopelvic cavity and covers most of the viscera contained therein; it forms two sacs: the peritoneal (or greater) sac and the omental bursa (lesser sac) connected by the omental foramen" [MGI:anna] synonym: "abnormal membrana abdominis" EXACT [] is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0009217 name: abnormal peritoneal vaginal process morphology def: "any structural anomaly of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal; in the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck" [MGI:anna] synonym: "abnormal Nuck diverticulum" EXACT [] synonym: "abnormal processus vaginalis peritonei" EXACT [] synonym: "abnormal vaginal process of peritoneum" EXACT [] synonym: "abnormal vaginal process of testis" EXACT [] is_a: MP:0009216 ! abnormal peritoneum morphology [Term] id: MP:0009218 name: absent peritoneal vaginal process def: "absence of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal" [MGI:anna] synonym: "absent processus vaginalis peritonei" EXACT [] synonym: "absent vaginal process of peritoneum" EXACT [] synonym: "missing vaginal process of testis" EXACT [] is_a: MP:0009217 ! abnormal peritoneal vaginal process morphology [Term] id: MP:0009219 name: prostate intraepithelial neoplasia def: "noninvasive prostate duct lesions that affect smaller caliber ducts" [MGI:csmith] synonym: "PIN" EXACT [] synonym: "prostatic intraepithelial neoplasia" EXACT [] is_a: MP:0010357 ! increased prostate gland tumor incidence [Term] id: MP:0009220 name: prostate gland adenocarcinoma def: "malignant neoplasm arising from prostate tissue" [MGI:csmith] synonym: "prostate adenocarcinoma" EXACT [] is_a: MP:0009308 ! adenocarcinoma is_a: MP:0010357 ! increased prostate gland tumor incidence [Term] id: MP:0009221 name: uterus adenomyosis def: "a benign invasion of myometrium by endometrial tissue" [MGI:anna] synonym: "adenomyometritis" EXACT [] synonym: "adenomyosis" EXACT [] synonym: "adenomyosis uteri" EXACT [] synonym: "endometriosis interna" EXACT [] synonym: "endometriosis of myometrium" EXACT [] synonym: "endometriosis uterina" EXACT [] synonym: "uterine adenomyosis" EXACT [] synonym: "uterus corpus adenomyosis" EXACT [] synonym: "uterus endometriosis" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0009222 name: uterus tumor def: "presence of abnormal rapidly proliferating cells in the uterus, usually in the form of a distinct mass" [MGI:anna] synonym: "uterine mass" EXACT [] synonym: "uterine tumor" EXACT [] is_a: MP:0010287 ! increased reproductive system tumor incidence [Term] id: MP:0009223 name: increased uterus carcinoma incidence def: "greater than the expected number of malignant neoplasms derived from uterine epithelial cells, occurring in a specific population in a given time period" [MGI:csmith] synonym: "increased uterine carcinoma incidence" EXACT [] is_a: MP:0002038 ! carcinoma is_a: MP:0009222 ! uterus tumor [Term] id: MP:0009224 name: absent endometrium def: "absence of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MESH:A05.360.319.679.490, MGI:anna] is_a: MP:0004896 ! abnormal endometrium morphology [Term] id: MP:0009225 name: abnormal cervix size def: "anomaly in the size of the lower opening of the uterus to the vagina" [MGI:anna] synonym: "abnormal cervical size" EXACT [] is_a: MP:0001135 ! abnormal cervix morphology [Term] id: MP:0009226 name: small cervix def: "reduced size of the lower opening of the uterus to the vagina" [MGI:anna] synonym: "reduced cervical size" EXACT [] synonym: "small cervix uteri" EXACT [] synonym: "small neck of uterus" EXACT [] synonym: "small neck of womb" EXACT [] is_a: MP:0009225 ! abnormal cervix size [Term] id: MP:0009227 name: cervix hypoplasia def: "underdevelopment or reduced size of the cervix, usually due to a reduced number of cells" [MGI:anna] synonym: "cervical hypoplasia" EXACT [] synonym: "hypoplastic cervix" EXACT [] synonym: "hypoplastic neck of uterus" EXACT [] synonym: "hypoplastic neck of womb" EXACT [] is_a: MP:0009226 ! small cervix [Term] id: MP:0009228 name: cervix inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the cervix" [MGI:anna] synonym: "cervical inflammation" EXACT [] synonym: "cervicitis" EXACT [] is_a: MP:0002254 ! reproductive system inflammation is_a: MP:0009671 ! abnormal uterus physiology [Term] id: MP:0009229 name: abnormal median eminence morphology def: "any structural anomaly of the raised area at the infundibular region of the hypothalamus where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system" [MESH:A06.688.357.500] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0009230 name: abnormal sperm head morphology def: "any structural anomaly of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg" [MGI:anna] synonym: "sperm head defects" EXACT [] is_a: MP:0005578 ! teratozoospermia [Term] id: MP:0009231 name: detached acrosome def: "detachment or loss of adhesion of the acrosome cap from the sperm head nucleus" [MGI:anna] is_a: MP:0008898 ! abnormal acrosome morphology [Term] id: MP:0009232 name: abnormal sperm nucleus morphology def: "any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin" [MGI:anna] is_a: MP:0009230 ! abnormal sperm head morphology [Term] id: MP:0009233 name: enlarged sperm head def: "increased size of the head segment of the sperm cell" [MGI:anna] synonym: "megacephalic sperm" EXACT [] synonym: "sperm megacephaly" EXACT [] is_a: MP:0009230 ! abnormal sperm head morphology [Term] id: MP:0009234 name: absent sperm head def: "absence of the head segment of the sperm cell" [MGI:anna] synonym: "acephalic sperm" EXACT [] synonym: "decapitated spermatozoa" EXACT [] synonym: "headless sperm" EXACT [] synonym: "sperm acephaly" EXACT [] is_a: MP:0009230 ! abnormal sperm head morphology [Term] id: MP:0009235 name: small sperm head def: "reduced size of the head segment of the sperm cell" [MGI:anna] synonym: "microcephalic sperm" EXACT [] synonym: "sperm microcephaly" EXACT [] is_a: MP:0009230 ! abnormal sperm head morphology [Term] id: MP:0009236 name: pinhead sperm def: "a sperm head that is unusually oblong in shape and much smaller than normal; typically, pinhead sperm result when the centrioles from which the sperm tails develop are not correctly aligned opposite the developing acrosome so that sperm heads are lost and absorbed during epididymal transit" [MGI:anna] synonym: "pin-head sperm" EXACT [] is_a: MP:0009230 ! abnormal sperm head morphology [Term] id: MP:0009237 name: kinked sperm flagellum def: "a sharp bend or zigzag in the sperm tail" [MGI:anna] synonym: "sharp sperm flagellar bending" EXACT [] synonym: "sharply bent sperm tail" EXACT [] synonym: "sperm flagellar angularity" EXACT [] synonym: "sperm flagellar angulation" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009238 name: coiled sperm flagellum def: "abnormal twisting of the sperm flagellum into coils or spirals" [MGI:anna] synonym: "coiled sperm tail" EXACT [] synonym: "curly sperm tail" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009239 name: short sperm flagellum def: "decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MGI:anna] synonym: "short sperm tail" EXACT [] synonym: "truncated sperm flagellum" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009240 name: elongated sperm flagellum def: "increased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MGI:anna] synonym: "long sperm flagellum" EXACT [] synonym: "long sperm tail" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009241 name: thick sperm flagellum def: "increased thickness of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MGI:anna] synonym: "thick sperm tail" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009242 name: thin sperm flagellum def: "reduced thickness of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MGI:anna] synonym: "thin sperm tail" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009243 name: hairpin sperm flagellum def: "a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked" [MGI:anna] synonym: "abnormal hairpin-fold of the sperm flagellum" EXACT [] synonym: "flagellar hairpin bends" EXACT [] synonym: "hairpin bent sperm tail" EXACT [] synonym: "hairpin-configuration spermatozoa" EXACT [] synonym: "hairpin-curved sperm" EXACT [] synonym: "hairpin-like sperm flagellum" EXACT [] synonym: "hairpin-shaped sperm" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009244 name: abnormal acid-activated cation-mediated receptor currents def: "change in the measured amplitude, current density or duration of response to stimulation of acid-activated cation-mediated receptors" [MGI:csmith] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0009245 name: caudal rachischisis def: "congenitial fissure of the vertebral column at the caudal end of the body" [MGI:llw2] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0009246 name: pale spleen def: "spleen lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:anna] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0009247 name: meteorism alt_id: MP:0009513 def: "condition in which excess gas accumulates in the gastrointestinal tract or peritoneal cavity, often resulting in abdominal distention, excess flatulence and/or belching" [MGI:csmith] synonym: "bloating" EXACT [] synonym: "gastrointestinal bloating" EXACT [] synonym: "tympania" EXACT [] synonym: "tympanism" EXACT [] synonym: "tympanites" EXACT [] is_a: MP:0001270 ! distended abdomen is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0009248 name: small caput epididymis def: "decrease in the average size of the head of the epididymis" [MGI:anna] synonym: "reduced caput" EXACT [] is_a: MP:0002660 ! abnormal caput epididymis morphology [Term] id: MP:0009249 name: enlarged caput epididymis def: "increase in the average size of the head of the epididymis" [MGI:anna] is_a: MP:0002660 ! abnormal caput epididymis morphology [Term] id: MP:0009250 name: abnormal appendicular skeleton morphology def: "any structural anomaly of the bones of the limbs, shoulder and pelvic girdles" [ISBN:0-683-40008-8] synonym: "appendicular skeleton dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0009251 name: enlarged endometrial glands def: "increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus" [MGI:anna] synonym: "enlarged glandulae uterinae" EXACT [] synonym: "enlarged uterine glands" EXACT [] is_a: MP:0009094 ! abnormal endometrial gland morphology [Term] id: MP:0009252 name: absent urinary bladder def: "absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys" [MGI:anna] synonym: "absent cystis urinaria" EXACT [] synonym: "absent urocyst" EXACT [] synonym: "absent urocystis" EXACT [] synonym: "absent vesica urinaria" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0009253 name: abnormal sympathetic neuron physiology def: "any functional anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations" [MGI:csmith] is_a: MP:0004183 ! abnormal sympathetic nervous system physiology is_a: MP:0010055 ! abnormal sensory neuron physiology [Term] id: MP:0009254 name: disorganized pancreatic islets def: "derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells" [MGI:csmith] is_a: MP:0005215 ! abnormal pancreatic islet morphology [Term] id: MP:0009255 name: degranulated pancreatic beta cells def: "insulin-secreting cells of the pancreas do not contain vesicles containing insulin" [MGI:acv] is_a: MP:0005217 ! abnormal pancreatic beta cell morphology [Term] id: MP:0009256 name: enlarged corpus epididymis def: "increase in the average size of the body of the epididymis" [MGI:anna] is_a: MP:0002661 ! abnormal corpus epididymis morphology [Term] id: MP:0009257 name: dilated seminiferous tubules def: "the luminal space of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith] synonym: "seminiferous tubule dilation" EXACT [] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0009258 name: abnormal thymocyte apoptosis def: "change in the timing or the number of immature T cells located in the thymus that are undergoing programmed cell death" [CL:0000893] comment: Note that a thymocyte is an immature T cell located in the thymus (CL:0000893). is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0003763 ! abnormal thymus physiology is_a: MP:0006412 ! abnormal T cell apoptosis [Term] id: MP:0009259 name: abnormal vestibular saccule duct morphology def: "any structural anomaly of the saccular portion of the utriculosaccular duct that normally extends from the sacculus to the endolymphatic duct" [ISBN:0-683-40008-8] synonym: "abnormal saccular duct" EXACT [] synonym: "abnormal saccule duct morphology" EXACT [] is_a: MP:0006089 ! abnormal vestibular saccule morphology [Term] id: MP:0009260 name: abnormal utricle duct morphology def: "any structural anomaly of the utricular portion of the utriculosaccular duct that normally extends from the utriculus to the endolymphatic duct" [ISBN:0-683-40008-8] synonym: "abnormal utricular duct" EXACT [] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0009261 name: abnormal utricle valve morphology def: "any structural anomaly of the utriculo-endolymphatic (UE) valve which is located in the antero-inferior wall of the utricle at the orifice of the utricular duct and serves to regulate endolymph volume in the endolymphatic sac, the utricle and the canals" [PMID:1238493] synonym: "abnormal Bast's valve morphology" EXACT [] synonym: "abnormal ultriculo-endolymphatic (UE) valve morphology" EXACT [] synonym: "abnormal utricular valve morphology" EXACT [] is_a: MP:0006090 ! abnormal utricle morphology [Term] id: MP:0009262 name: absent semicircular canal ampulla def: "absence of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals" [ISBN:0-683-40008-8] synonym: "absent abnormal membranous ampullae of the semicircular ducts" EXACT [] is_a: MP:0008488 ! abnormal semicircular canal ampulla morphology [Term] id: MP:0009263 name: abnormal eyelid fusion def: "anomaly in the process by which the upper and lower eyelids are joined during development" [MGI:smb] is_a: MP:0009651 ! abnormal eyelid development [Term] id: MP:0009264 name: failure of eyelid fusion def: "the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development; normally fused by E17 in the mouse" [MGI:llw2] is_a: MP:0009263 ! abnormal eyelid fusion [Term] id: MP:0009265 name: delayed eyelid fusion def: "later than average time of the joining of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye" [MGI:smb] is_a: MP:0009263 ! abnormal eyelid fusion [Term] id: MP:0009266 name: abnormal mesendoderm development def: "failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm" [MGI:smb] synonym: "abnormal endomesoderm development" EXACT [] is_a: MP:0001674 ! abnormal triploblastic development [Term] id: MP:0009267 name: abnormal cerebellum fissure morphology def: "any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows" [ISBN:0-683-40008-8] synonym: "abnormal cerebellar fissure morphology" EXACT [] is_a: MP:0004097 ! abnormal cerebellar cortex morphology [Term] id: MP:0009268 name: absent cerebellum fissure def: "absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows" [ISBN:0-683-40008-8] synonym: "absent cerebellar fissure" EXACT [] is_a: MP:0009267 ! abnormal cerebellum fissure morphology [Term] id: MP:0009269 name: decreased fat cell size def: "reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449] synonym: "decreased adipocyte size" EXACT [] synonym: "decreased lipocyte size" EXACT [] synonym: "reduced fat cell size" EXACT [] is_a: MP:0009115 ! abnormal fat cell morphology [Term] id: MP:0009270 name: abnormal guard hair length def: "anomaly in the length of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0000397 ! abnormal guard hair morphology [Term] id: MP:0009271 name: increased guard hair length def: "increase in the length of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2] is_a: MP:0009270 ! abnormal guard hair length [Term] id: MP:0009272 name: decreased guard hair length def: "reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2] synonym: "reduced guard hair length" EXACT [] is_a: MP:0009270 ! abnormal guard hair length [Term] id: MP:0009273 name: abnormal hair shaft melanin granule shape def: "the form of pigment polymers in the hair shaft differs compared to controls" [MGI:llw2] is_a: MP:0008731 ! abnormal hair shaft melanin granule morphology [Term] id: MP:0009274 name: buphthalmos def: "abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma" [MGI:anna] is_a: MP:0001296 ! macrophthalmia [Term] id: MP:0009275 name: bruising def: "an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related" [MGI:anna] synonym: "bruise" EXACT [] synonym: "bruises" EXACT [] synonym: "contusion" EXACT [] is_a: MP:0008817 ! hematoma [Term] id: MP:0009276 name: ecchymosis def: "an ecchymosis is a spot caused by loss of blood from a vessel; it implies a larger size than a petechiae, and has a more diffuse border than purpura; an ecchymosis can be caused by a bruise (which implies trauma), but can also be caused by bleeding diathesis" [MGI:anna] is_a: MP:0011514 ! skin hemorrhage [Term] id: MP:0009277 name: brain tumor def: "presence of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass" [MGI:mnk] is_a: MP:0010281 ! increased nervous system tumor incidence [Term] id: MP:0009278 name: abnormal bone marrow cell physiology def: "any functional anomaly of any of the cells found in the bone marrow" [MGI:tmeehan] is_a: MP:0001545 ! abnormal hematopoietic system physiology [Term] id: MP:0009279 name: abnormal activated sperm motility def: "any anomaly in the type of sperm mobility that is observed in freshly ejaculated sperm and is thought to help propel the sperm through the female reproductive tract to the oviduct; normally, the flagellum of an activated sperm generates a symmetrical, lower amplitude waveform that drives the sperm in a relatively straight line" [MGI:anna] is_a: MP:0002674 ! abnormal sperm motility [Term] id: MP:0009280 name: reduced activated sperm motility def: "loss or reduction of the activated type of sperm mobility, resulting in immotile sperm that are generally unable to reach the uterotubal junction; decreases in activated sperm motility may result in reduced male fertility" [MGI:anna] synonym: "decreased activated sperm motility" EXACT [] synonym: "impaired activated sperm motility" EXACT [] is_a: MP:0002675 ! asthenozoospermia is_a: MP:0009279 ! abnormal activated sperm motility [Term] id: MP:0009281 name: abnormal hyperactivated sperm motility def: "any anomaly in the type of sperm motility that is observed in most sperm recovered from the site of fertilization and is thought to help sperm detach from the oviductal epithelium, reach the site of fertilization, and penetrate the cumulus and zona pellucida of the oocyte; normally, once sperm from most species become hyperactivated, the flagellar beat becomes asymmetrical and higher amplitude, resulting in circular or figure-eight trajectories" [MGI:anna] is_a: MP:0002674 ! abnormal sperm motility [Term] id: MP:0009282 name: reduced hyperactivated sperm motility def: "loss or reduction of the hyperactivated type of sperm mobility, impairing the ability of sperm to reach the site of fertilization and to penetrate the oocyte vestments; a block in hyperactivated motility may also impair the ability of a sperm to fertilize an oocyte in vitro" [MGI:anna] synonym: "decreased hyperactivated sperm motility" EXACT [] synonym: "impaired hyperactivated sperm motility" EXACT [] is_a: MP:0002675 ! asthenozoospermia is_a: MP:0009281 ! abnormal hyperactivated sperm motility [Term] id: MP:0009283 name: decreased gonadal fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the ovaries or testes" [MGI:anna] synonym: "decreased perigonadal fat pad weight" EXACT [] synonym: "reduced gonadal fat depot" EXACT [] is_a: MP:0005335 ! abnormal gonadal fat pad morphology [Term] id: MP:0009284 name: abnormal sympathetic neuron innervation pattern def: "any changes in the placement, morphology or number of nerve fibers to sympathetic termini" [MGI:csmith] is_a: MP:0001025 ! abnormal sympathetic neuron morphology is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0009285 name: increased gonadal fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes" [MGI:csmith] synonym: "increased gonadal fat depot weight" EXACT [] synonym: "increased perigonadal fat pad weight" EXACT [] is_a: MP:0005335 ! abnormal gonadal fat pad morphology [Term] id: MP:0009286 name: increased abdominal fat pad weight def: "greater than average weight of the encapsulated adipose tissue in the abdomen" [MGI:csmith] synonym: "increased abdominal fat depot weight" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0009287 name: decreased abdominal fat pad weight def: "less than average weight of the encapsulated adipose tissue in the abdomen" [MGI:csmith] synonym: "decreased abdominal fat depot weight" EXACT [] synonym: "reduced abdominal fat depot weight" EXACT [] synonym: "reduced abdominal fat pad weight" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology [Term] id: MP:0009288 name: increased epididymal fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the epididymis" [MGI:csmith] synonym: "increased epididymal fat depot weight" EXACT [] synonym: "increased periepididymal fat pad weight" EXACT [] is_a: MP:0006319 ! abnormal epididymal fat pad morphology [Term] id: MP:0009289 name: decreased epididymal fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the epididymis" [MGI:csmith] synonym: "decreased epididymal fat depot weight" EXACT [] synonym: "decreased periepididymal fat pad weight" EXACT [] synonym: "reduced epididymal fat depot weight" EXACT [] synonym: "reduced epididymal fat pad weight" EXACT [] synonym: "reduced periepididymal fat pad weight" RELATED [] is_a: MP:0006319 ! abnormal epididymal fat pad morphology [Term] id: MP:0009290 name: increased femoral fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the femur" [MGI:csmith] synonym: "increased femoral fat depot weight" EXACT [] is_a: MP:0008905 ! abnormal femoral fat pad morphology [Term] id: MP:0009291 name: decreased femoral fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the femur" [MGI:csmith] synonym: "decreased femoral fat depot weight" EXACT [] synonym: "reduced femoral fat depot weight" EXACT [] synonym: "reduced femoral fat pad weight" EXACT [] is_a: MP:0008905 ! abnormal femoral fat pad morphology [Term] id: MP:0009292 name: increased inguinal fat pad weight def: "greater than average weight of the encapsulated adipose tissue found in the groin" [MGI:csmith] synonym: "increased inguinal fat depot weight" EXACT [] is_a: MP:0005336 ! abnormal inguinal fat pad morphology [Term] id: MP:0009293 name: decreased inguinal fat pad weight def: "less than average weight of the encapsulated adipose tissue found in the groin" [MGI:csmith] synonym: "decreased inguinal fat depot weight" EXACT [] synonym: "reduced inguinal fat depot weight" EXACT [] synonym: "reduced inguinal fat pad weight" EXACT [] is_a: MP:0005336 ! abnormal inguinal fat pad morphology [Term] id: MP:0009294 name: increased interscapular fat pad weight def: "greater than average weight of the encapsulated adipose tissue located between the scapulae" [MGI:csmith] synonym: "increased interscapular fat depot weight" EXACT [] is_a: MP:0006320 ! abnormal interscapular fat pad morphology [Term] id: MP:0009295 name: decreased interscapular fat pad weight def: "less than average weight of the encapsulated adipose tissue located between the scapulae" [MGI:csmith] synonym: "decreased interscapular fat depot weight" EXACT [] synonym: "reduced interscapular fat depot weight" EXACT [] synonym: "reduced interscapular fat pad weight" EXACT [] is_a: MP:0006320 ! abnormal interscapular fat pad morphology [Term] id: MP:0009296 name: increased mammary fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the mammary gland" [MGI:csmith] synonym: "increased mammary fat depot weight" EXACT [] is_a: MP:0008904 ! abnormal mammary fat pad morphology [Term] id: MP:0009297 name: decreased mammary fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the mammary gland" [MGI:csmith] synonym: "decreased mammary fat depot weight" EXACT [] synonym: "reduced mammary fat depot weight" EXACT [] synonym: "reduced mammary fat pad weight" EXACT [] is_a: MP:0008904 ! abnormal mammary fat pad morphology [Term] id: MP:0009298 name: increased mesenteric fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the mesentery" [MGI:csmith] synonym: "increased mesenteric fat depot weight" EXACT [] is_a: MP:0008903 ! abnormal mesenteric fat pad morphology [Term] id: MP:0009299 name: decreased mesenteric fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the mesentery" [MGI:csmith] synonym: "decreased mesenteric fat depot weight" EXACT [] synonym: "reduced mesenteric fat depot weight" EXACT [] synonym: "reduced mesenteric fat pad weight" EXACT [] is_a: MP:0008903 ! abnormal mesenteric fat pad morphology [Term] id: MP:0009300 name: increased parametrial fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament" [MGI:csmith] synonym: "increased parametrial fat depot weight" EXACT [] is_a: MP:0008906 ! abnormal parametrial fat pad morphology [Term] id: MP:0009301 name: decreased parametrial fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament" [MGI:csmith] synonym: "decreased parametrial fat depot weight" EXACT [] synonym: "reduced parametrial fat depot weight" EXACT [] synonym: "reduced parametrial fat pad weight" EXACT [] is_a: MP:0008906 ! abnormal parametrial fat pad morphology [Term] id: MP:0009302 name: increased renal fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the kidney" [MGI:csmith] synonym: "increased renal fat depot weight" EXACT [] is_a: MP:0008902 ! abnormal renal fat pad morphology [Term] id: MP:0009303 name: decreased renal fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the kidney" [MGI:csmith] synonym: "decreased renal fat depot weight" EXACT [] synonym: "reduced renal fat depot weight" EXACT [] synonym: "reduced renal fat pad weight" EXACT [] is_a: MP:0008902 ! abnormal renal fat pad morphology [Term] id: MP:0009304 name: increased retroperitoneal fat pad weight def: "greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum" [MGI:csmith] synonym: "increased retroperitoneal fat depot weight" EXACT [] is_a: MP:0005337 ! abnormal retroperitoneal fat pad morphology [Term] id: MP:0009305 name: decreased retroperitoneal fat pad weight def: "less than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum" [MGI:csmith] synonym: "decreased retroperitoneal fat depot weight" EXACT [] synonym: "reduced retroperitoneal fat depot weight" EXACT [] synonym: "reduced retroperitoneal fat pad weight" EXACT [] is_a: MP:0005337 ! abnormal retroperitoneal fat pad morphology [Term] id: MP:0009306 name: increased uterine fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the uterus" [MGI:csmith] synonym: "increased uterine fat depot weight" EXACT [] is_a: MP:0008900 ! abnormal uterine fat pad morphology [Term] id: MP:0009307 name: decreased uterine fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the uterus" [MGI:csmith] synonym: "decreased uterine fat depot weight" EXACT [] synonym: "reduced uterine fat depot weight" EXACT [] synonym: "reduced uterine fat pad weight" EXACT [] is_a: MP:0008900 ! abnormal uterine fat pad morphology [Term] id: MP:0009308 name: adenocarcinoma def: "malignant neoplasm of epithelial cells in a glandular or glandular-like pattern" [ISBN:0-683-40008-8] synonym: "glandular cancer" EXACT [] synonym: "glandular carcinoma" EXACT [] is_a: MP:0002038 ! carcinoma [Term] id: MP:0009309 name: small intestine adenocarcinoma def: "malignant neoplasm of epithelial cells in the small intestine" [MGI:anna] synonym: "small intestinal adenocarcinoma" EXACT [] is_a: MP:0002957 ! intestinal adenocarcinoma [Term] id: MP:0009310 name: large intestine adenocarcinoma def: "malignant neoplasm of epithelial cells in the large intestine" [MGI:anna] synonym: "large intestinal adenocarcinoma" EXACT [] is_a: MP:0002957 ! intestinal adenocarcinoma [Term] id: MP:0009311 name: duodenum adenocarcinoma def: "malignant neoplasm of epithelial cells in the duodenum" [MGI:anna] synonym: "duodenal adenocarcinoma" EXACT [] is_a: MP:0009309 ! small intestine adenocarcinoma [Term] id: MP:0009312 name: jejunum adenocarcinoma def: "malignant neoplasm of epithelial cells in the jejunum" [MGI:anna] is_a: MP:0009309 ! small intestine adenocarcinoma [Term] id: MP:0009313 name: cecum adenocarcinoma def: "malignant neoplasm of epithelial cells in the cecum" [MGI:anna] is_a: MP:0009310 ! large intestine adenocarcinoma [Term] id: MP:0009314 name: colon adenocarcinoma def: "malignant neoplasm of epithelial cells in the colon" [MGI:anna] synonym: "colonic adenocarcinoma" EXACT [] is_a: MP:0009310 ! large intestine adenocarcinoma [Term] id: MP:0009315 name: rectum adenocarcinoma def: "malignant neoplasm of epithelial cells in the rectum" [MGI:anna] synonym: "rectal adenocarcinoma" EXACT [] is_a: MP:0009310 ! large intestine adenocarcinoma [Term] id: MP:0009316 name: anal adenocarcinoma def: "malignant neoplasm of epithelial cells in the anal canal" [MGI:anna] synonym: "anal canal adenocarcinoma" EXACT [] is_a: MP:0009310 ! large intestine adenocarcinoma [Term] id: MP:0009317 name: follicular lymphoma def: "malignant lymphoma arising from lymphoid follicular B cells which may be small or large" [ISBN:0-683-40008-8] synonym: "giant follicular lymphoblastoma" EXACT [] synonym: "nodular lymphoma" EXACT [] is_a: MP:0002023 ! B cell derived lymphoma [Term] id: MP:0009318 name: splenic marginal zone lymphoma def: "neoplasm arising from the B cell-rich zones of the spleen" [ISBN:0-683-40008-8] is_a: MP:0002023 ! B cell derived lymphoma [Term] id: MP:0009319 name: small lymphocytic lymphoma def: "lymphocytic leukemia where the lymphocytes are not increased in the peripheral blood, but lymph nodes are enlarged and other lymphoid tissue or bone marrow is infiltrated by small lymphocytes" [ISBN:0-683-40008-8] synonym: "well-differentiated lymphocytic lymphoma" EXACT [] is_a: MP:0002023 ! B cell derived lymphoma [Term] id: MP:0009320 name: lymphoblastic lymphoma def: "diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei" [ISBN:0-683-40008-8] synonym: "lymphoblastoma" EXACT [] is_a: MP:0002024 ! T cell derived lymphoma [Term] id: MP:0009321 name: increased histiocytic sarcoma incidence def: "greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period" [MGI:csmith] is_a: MP:0002022 ! increased lymphoma incidence is_a: MP:0002032 ! sarcoma [Term] id: MP:0009322 name: increased splenocyte apoptosis def: "increase in the number of spleen cells undergoing programmed cell death" [MGI:anna] synonym: "increased spleen cell apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0009340 ! abnormal splenocyte apoptosis [Term] id: MP:0009323 name: abnormal spleen development def: "aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets" [MGI:anna] synonym: "abnormal spleen formation" EXACT [] synonym: "abnormal spleen organogenesis" EXACT [] synonym: "abnormal splenic development" EXACT [] synonym: "spleen dysgenesis" EXACT [] synonym: "splenic dysgenesis" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0009324 name: absent hippocampal fimbria def: "absence of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which eventually thickens to form the fornix and fibers of the hippocampal commissure" [ISBN:0-683-40008-8, MESH:A08.186.211.464.265, MGI:anna] is_a: MP:0003005 ! abnormal hippocampal fimbria morphology [Term] id: MP:0009325 name: necrospermia def: "condition in which spermatozoa in seminal fluid are dead or motionless" [MGI:llw2] synonym: "necrozoospermia" EXACT [] is_a: MP:0001124 ! abnormal gametes is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0002673 ! abnormal sperm number [Term] id: MP:0009326 name: absent maternal crouching def: "females do not assume a position over young that facilitates suckling behavior" [MGI:llw2] synonym: "absent nursing posture" EXACT [] is_a: MP:0001382 ! abnormal nursing [Term] id: MP:0009327 name: abnormal maternal grooming def: "females show an anomaly in eliciting the cleaning or tactile stimulus level necessary to initiate nursing by offspring" [MGI:llw2] is_a: MP:0001386 ! abnormal maternal nurturing [Term] id: MP:0009328 name: delayed heart looping def: "late onset of the initiation and/or completion of looping of the primitive heart tube" [MGI:anna] synonym: "delayed cardiac looping" EXACT [] is_a: MP:0000269 ! abnormal heart looping [Term] id: MP:0009329 name: abnormal primitive pit morphology def: "any structural anomaly of the small depression in the primitive streak that is caudal to the primitive node where the cells of the epiblast initially begin to invaginate during early embryogenesis" [MGI:csmith] is_a: MP:0002231 ! abnormal primitive streak morphology [Term] id: MP:0009330 name: abnormal primitive groove morphology def: "any structural anomaly of the shallow valley that extends along the length of the primitive streak" [MGI:csmith] is_a: MP:0002231 ! abnormal primitive streak morphology [Term] id: MP:0009331 name: absent primitive node def: "absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo" [MGI:csmith] synonym: "absent embryonic node" EXACT [] synonym: "absent Hensen's node" RELATED [] synonym: "absent Henson's node" RELATED [] synonym: "absent primitive knot" EXACT [] synonym: "absent prochordal knot" EXACT [] synonym: "absent Spemann's organizer" RELATED [] is_a: MP:0004066 ! abnormal primitive node morphology [Term] id: MP:0009332 name: abnormal splenocyte morphology def: "any structural anomaly of a cell of the spleen" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "abnormal spleen cell morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0009333 name: abnormal splenocyte physiology def: "any functional anomaly of a cell of the spleen" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "abnormal spleen cell physiology" EXACT [] is_a: MP:0001545 ! abnormal hematopoietic system physiology is_a: MP:0008737 ! abnormal spleen physiology [Term] id: MP:0009334 name: abnormal splenocyte proliferation def: "anomaly in the ability of a splenocyte cell population to undergo expansion by cell division" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "abnormal spleen cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0009333 ! abnormal splenocyte physiology [Term] id: MP:0009335 name: decreased splenocyte proliferation def: "reduction in the expansion rate of a splenocyte cell population by cell division" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "decreased spleen cell proliferation" EXACT [] synonym: "reduced spleen cell proliferation" EXACT [] synonym: "reduced splenocyte proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0009334 ! abnormal splenocyte proliferation [Term] id: MP:0009336 name: increased splenocyte proliferation def: "increase in the expansion rate of a splenocyte cell population by cell division" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "increased spleen cell proliferation" EXACT [] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0009334 ! abnormal splenocyte proliferation [Term] id: MP:0009337 name: abnormal splenocyte number def: "deviation from the expected number of cells of the spleen" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "abnormal spleen cell number" EXACT [] is_a: MP:0009332 ! abnormal splenocyte morphology [Term] id: MP:0009338 name: increased splenocyte number def: "increase in the expected number of cells of the spleen" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "increased spleen cell number" EXACT [] is_a: MP:0009337 ! abnormal splenocyte number [Term] id: MP:0009339 name: decreased splenocyte number def: "reduction in the expected number of cells of the spleen" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "decreased spleen cell number" EXACT [] synonym: "reduced spleen cell number" EXACT [] synonym: "reduced splenocyte number" EXACT [] is_a: MP:0009337 ! abnormal splenocyte number [Term] id: MP:0009340 name: abnormal splenocyte apoptosis def: "deviation in the number of spleen cells undergoing programmed cell death" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "abnormal spleen cell apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0009333 ! abnormal splenocyte physiology [Term] id: MP:0009341 name: decreased splenocyte apoptosis def: "reduction in the number of spleen cells undergoing programmed cell death" [MGI:csmith] comment: Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. synonym: "decreased spleen cell apoptosis" EXACT [] synonym: "reduced spleen cell apoptosis" EXACT [] synonym: "reduced splenocyte apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0009340 ! abnormal splenocyte apoptosis [Term] id: MP:0009342 name: enlarged gallbladder def: "increased size of the gall bladder, the organ that serves as a storage reservoir for bile" [MGI:anna] synonym: "enlarged cholecyst" EXACT [] synonym: "enlarged gall bladder" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0009343 name: dilated gallbladder def: "abnormal distention of the gall bladder due to accumulation of fluid or bile" [MGI:anna] synonym: "dilated cholecyst" RELATED [] synonym: "dilated gall bladder" EXACT [] synonym: "distended gall bladder" EXACT [] synonym: "gall bladder dilation" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0009344 name: abnormal ovulation cycle def: "any anomaly in the type of sexual cycle seen in female mammals, with physiologic changes in the endometrium that recur at regular intervals during the reproductive years" [GO:0042698] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0009345 name: abnormal trabecular bone thickness def: "anomaly in the width of bone that has a lattice-like or spongy structure" [MGI:anna] synonym: "abnormal cancellous bone thickness" EXACT [] synonym: "abnormal spongy bone thickness" EXACT [] synonym: "abnormal spongy spongiosa thickness" EXACT [] synonym: "abnormal spongy substance thickness" EXACT [] synonym: "abnormal substantia trabecularis thickness" EXACT [] is_a: MP:0000130 ! abnormal trabecular bone morphology [Term] id: MP:0009346 name: decreased trabecular bone thickness def: "thinner than normal bone with a lattice-like or spongy structure" [MGI:anna] synonym: "decreased cancellous bone thickness" EXACT [] synonym: "decreased spongy bone thickness" EXACT [] synonym: "decreased spongy spongiosa thickness" EXACT [] synonym: "decreased spongy substance thickness" EXACT [] synonym: "decreased substantia trabecularis thickness" EXACT [] synonym: "reduced cancellous bone thickness" EXACT [] synonym: "reduced spongy bone thickness" EXACT [] synonym: "reduced spongy spongiosa thickness" EXACT [] synonym: "reduced spongy substance thickness" EXACT [] synonym: "reduced substantia trabecularis thickness" EXACT [] is_a: MP:0009345 ! abnormal trabecular bone thickness [Term] id: MP:0009347 name: increased trabecular bone thickness def: "thicker than normal bone with a lattice-like or spongy structure" [MGI:anna] synonym: "increased cancellous bone thickness" EXACT [] synonym: "increased spongy bone thickness" EXACT [] synonym: "increased spongy spongiosa thickness" EXACT [] synonym: "increased spongy substance thickness" EXACT [] synonym: "increased substantia trabecularis thickness" EXACT [] is_a: MP:0009345 ! abnormal trabecular bone thickness [Term] id: MP:0009348 name: abnormal urine pH def: "any anomaly in urinary pH, indicating alterations in urine acidity or alkalinity" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0009349 name: increased urine pH def: "increased urine alkalinity" [MGI:anna] synonym: "alkaline urine" EXACT [] is_a: MP:0009348 ! abnormal urine pH [Term] id: MP:0009350 name: decreased urine pH def: "increased urine acidity" [MGI:anna] synonym: "acidic urine" EXACT [] is_a: MP:0009348 ! abnormal urine pH [Term] id: MP:0009351 name: thin hair shaft def: "the average diameter of coat hair is less than the average diameter of hair from normal individuals" [MGI:llw2] is_a: MP:0003809 ! abnormal hair shaft morphology [Term] id: MP:0009352 name: impaired spacing of implantation sites def: "in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of the uterus" [MGI:llw2] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009353 name: twin decidual capsule def: "two embryos share one decidual membrane" [MGI:llw2] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009354 name: emprosthotonos def: "a form of tetanic spasm in which the head and feet are drawn forward and the spine arches backward" [MGI:llw2] is_a: MP:0000743 ! muscle spasm is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0009355 name: increased liver triglyceride level def: "higher than normal concentration of triacylglycerols in the liver" [MGI:smb] synonym: "increased hepatic triglyceride level" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0005317 ! increased triglyceride level [Term] id: MP:0009356 name: decreased liver triglyceride level def: "lower than normal concentration of triacylglycerols in the liver" [MGI:smb] synonym: "decreased hepatic triglyceride level" EXACT [] synonym: "reduced hepatic triglyceride level" EXACT [] synonym: "reduced liver triglyceride level" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0005318 ! decreased triglyceride level [Term] id: MP:0009357 name: abnormal seizure response to inducing agent def: "anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior" [MGI:llw2] synonym: "induced seizures" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0009358 name: environmentally induced seizures def: "relatively mild but sudden stimulation due to changes in ambient habitat including lighting, sounds, touching, and/ or moving cage" [MGI:llw2] is_a: MP:0009357 ! abnormal seizure response to inducing agent [Term] id: MP:0009359 name: endometrium atrophy def: "acquired diminution of the size of the uterine endometrium, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna, MGI:csmith] synonym: "endometrial atrophy" EXACT [] is_a: MP:0004896 ! abnormal endometrium morphology [Term] id: MP:0009360 name: endometrium inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the endometrium" [MGI:anna] synonym: "endometrial inflammation" EXACT [] is_a: MP:0002254 ! reproductive system inflammation is_a: MP:0009671 ! abnormal uterus physiology [Term] id: MP:0009361 name: abnormal primordial ovarian follicle morphology def: "any structural anomaly in the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles" [MGI:anna] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0009362 name: abnormal primary ovarian follicle morphology def: "any structural anomaly in the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:anna] synonym: "abnormal folliculus ovaricus primaries" EXACT [] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0009363 name: abnormal secondary ovarian follicle morphology def: "any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:anna] synonym: "abnormal antral follicle" EXACT [] synonym: "abnormal folliculus ovaricus vesiculosus" EXACT [] synonym: "abnormal Graafian follicle" EXACT [] synonym: "abnormal vesicular follicle" EXACT [] synonym: "abnormal vesicular ovarian follicle" EXACT [] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0009364 name: abnormal mature ovarian follicle morphology def: "any structural anomaly in the ovarian follicle that is ready for ovulation and presents a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle" [MGI:anna] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0009365 name: abnormal theca folliculi def: "any structural anomaly in the envelope of condensed connective tissue surrounding a secondary ovarian follicle; the theca folliculi are divided into two layers, an internal vascular layer (tunica interna) and an external fibrous layer (tunica externa)" [MGI:anna] synonym: "abnormal ovarian thecal cells" EXACT [] synonym: "abnormal theca folliculi morphology" EXACT [] synonym: "abnormal thecal layer morphology" EXACT [] is_a: MP:0009363 ! abnormal secondary ovarian follicle morphology [Term] id: MP:0009366 name: abnormal theca interna def: "any structural anomaly in the inner cellular and vascular layer of the theca of a secondary ovarian follicle; evidence indicates that the epithelioid cells produce androgens and contribute to the formation of the corpus luteum after ovulation" [MGI:anna] synonym: "abnormal internal thecal layer morphology" EXACT [] synonym: "abnormal theca interna morphology" EXACT [] synonym: "abnormal tunica interna thecae folliculi" EXACT [] is_a: MP:0009365 ! abnormal theca folliculi [Term] id: MP:0009367 name: abnormal theca externa def: "any structural anomaly in the external fibrous layer of the theca of a secondary ovarian follicle; the theca externa contains abundant collagen and is mainly supportive" [MGI:anna] synonym: "abnormal external thecal layer morphology" EXACT [] synonym: "abnormal theca externa morphology" EXACT [] synonym: "abnormal tunica externa thecae folliculi" EXACT [] is_a: MP:0009365 ! abnormal theca folliculi [Term] id: MP:0009368 name: absent theca folliculi def: "absence of the internal, external or both layers of the sheath of stroma surrounding a secondary ovarian follicle" [MGI:anna] synonym: "absent thecal layer formation" EXACT [] is_a: MP:0009365 ! abnormal theca folliculi [Term] id: MP:0009369 name: abnormal thecal cell number def: "abnormal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle" [MGI:anna] is_a: MP:0009363 ! abnormal secondary ovarian follicle morphology [Term] id: MP:0009370 name: decreased thecal cell number def: "fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle" [MGI:anna] synonym: "decreased number of thecal cells" EXACT [] synonym: "reduced thecal cell number" EXACT [] is_a: MP:0009369 ! abnormal thecal cell number [Term] id: MP:0009371 name: increased thecal cell number def: "greater than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle" [MGI:anna] synonym: "increased number of thecal cells" EXACT [] is_a: MP:0009369 ! abnormal thecal cell number [Term] id: MP:0009372 name: abnormal cumulus oophorus def: "atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix" [MGI:anna] synonym: "abnormal cumulus oophorous" EXACT [] synonym: "abnormal cumulus ovaricus" EXACT [] synonym: "abnormal ovigerus" EXACT [] synonym: "abnormal proligerous disc" EXACT [] synonym: "abnormal proligerous membrane" EXACT [] is_a: MP:0003357 ! impaired granulosa cell differentiation [Term] id: MP:0009373 name: abnormal cumulus expansion def: "anomaly in the ability of the cumulus cells to synthesize and accumulate hyaluronan into an extracellular matrix (ECM), which provides an essential microenvironment for oocyte fertilization; this expanded ECM binds the oocyte and the cumulus cells together, protects the oocyte from the proteolytic and mechanical stresses during extrusion, and allows sperm binding, penetration, and fertilization" [MGI:anna] synonym: "abnormal ovarian cumulus expansion" EXACT [] synonym: "abnormal ovarian cumulus growth" EXACT [] is_a: MP:0001130 ! abnormal ovarian folliculogenesis [Term] id: MP:0009374 name: absent cumulus expansion def: "complete inability of the cumulus cells to secrete an extensive extracellular matrix required for successful fertilization" [MGI:anna] synonym: "absent ovarian cumulus growth" EXACT [] synonym: "failure of cumulus expansion" EXACT [] is_a: MP:0009373 ! abnormal cumulus expansion [Term] id: MP:0009375 name: thin zona pellucida def: "reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation" [MGI:anna] is_a: MP:0003696 ! abnormal zona pellucida morphology [Term] id: MP:0009376 name: abnormal manchette morphology def: "any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis" [MGI:anna] is_a: MP:0006380 ! abnormal spermatid morphology [Term] id: MP:0009377 name: ectopic manchette def: "abnormal position of the conic array of microtubules that normally invests the posterior nucleus of a spermatid" [MGI:anna] synonym: "heterotopic manchette" EXACT [] is_a: MP:0009376 ! abnormal manchette morphology [Term] id: MP:0009378 name: abnormal endoplasmic reticulum morphology def: "any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells" [GO:0005783] comment: The endoplasmic reticulum membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). synonym: "abnormal ER morphology" EXACT [] is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0009379 name: abnormal foot pigmentation def: "anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:llw2, MGI:mberry] is_a: MP:0002095 ! abnormal skin pigmentation [Term] id: MP:0009380 name: abnormal prostate gland ventral lobe morphology def: "any structural anomaly of the rodent prostate lobe that is located below the ventral aspect of the bladder neck" [PMID:12645922, PMID:3308446] comment: In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). synonym: "abnormal ventral prostate morphology" EXACT [] synonym: "abnormal VP morphology" EXACT [] xref: MA:0001740 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0009381 name: abnormal prostate gland dorsolateral lobe morphology def: "any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle" [PMID:12645922, PMID:3308446] comment: In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). synonym: "abnormal DLP morphology" EXACT [] synonym: "abnormal dorsolateral prostate morphology" EXACT [] xref: MA:0001739 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0009382 name: abnormal cardiac jelly morphology def: "any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart" [MGI:smb] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0009383 name: abnormal truncus arteriosus morphology def: "OBSOLETE. any structural anomaly of the common arterial trunk opening out of both ventricles that divides into the aorta and pulmonary artery during development" [MGI:smb] is_obsolete: true [Term] id: MP:0009384 name: cardiac valve regurgitation def: "the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation" [MGI:csmith] synonym: "cardiac valve insufficiency" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0009385 name: abnormal dermal pigmentation def: "anomaly in the coloration of the dermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:csmith, MGI:llw2] is_a: MP:0002095 ! abnormal skin pigmentation [Term] id: MP:0009386 name: abnormal dermal melanocyte morphology def: "any structural anomaly of the cells that produce pigment in the dermis" [ISBN-13:978-1-4051-2034-0, MGI:csmith] synonym: "abnormal dermal melanocytes" EXACT [] is_a: MP:0002877 ! abnormal melanocyte morphology is_a: MP:0009385 ! abnormal dermal pigmentation [Term] id: MP:0009387 name: abnormal epidermal pigmentation def: "anomaly in the coloration of the epidermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:csmith, MGI:llw2] subset: Sanger_Terms is_a: MP:0002095 ! abnormal skin pigmentation [Term] id: MP:0009388 name: abnormal epidermal melanocyte morphology def: "any structural anomaly of the cells that produce pigment in the epidermis" [ISBN-13:978-1-4051-2034-0] comment: These cells are found primarily, but not exclusively, in primates including humans. synonym: "abnormal epidermal melanocytes" EXACT [] synonym: "abnormal interfollicular melanocyte morphology" EXACT [] is_a: MP:0002877 ! abnormal melanocyte morphology is_a: MP:0009387 ! abnormal epidermal pigmentation [Term] id: MP:0009389 name: abnormal extracutaneous pigmentation def: "anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment" [ISBN-13:978-1-4051-2034-0] comment: Note that significant differences exist among populations of melanocytes that populate the cutaneous tissue compared to melanocytes that populate ocular, auditory, and internal body sites. Extracutaneous melanotcytes synthesize melanosomes and melanin only during a short interval after arriving in their target tissue, and they retain their melanosomes throughout the life of the organism instead of transferring to neighboring cells like dermal melanocytes. General morphology and ultrastructure of extracutaneous melanocytes vary and also differ from cutaneous melanocytes. is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0009390 name: abnormal otic pigmentation def: "any anomaly in the pigment or pigment-producing cells of the inner ear resulting in abnormal melanoblast numbers, distribution, or pigment during development" [ISBN-13:978-1-4051-2034-0] synonym: "abnormal auditory pigmentation" EXACT [] synonym: "abnormal inner ear pigmentation" EXACT [] is_a: MP:0009389 ! abnormal extracutaneous pigmentation [Term] id: MP:0009391 name: abnormal leptomeninges pigmentation def: "any anomaly in the coloring of the two innermost layers of the meninges, including the pia mater and the arachnoid, due to changes in the amount, shape, or distribution of cells producing pigment" [ISBN-13:978-1-4051-2034-0, MGI:llw2] is_a: MP:0009389 ! abnormal extracutaneous pigmentation [Term] id: MP:0009392 name: retinal gliosis def: "increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue" [MGI:smb] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0009393 name: abnormal resting posture def: "atypical position of the limbs compared to normal carriage when the body is inactive" [MGI:llw2] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0009394 name: increased uterine NK cell number def: "increased cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy" [PMID:14568979, PMID:19800965] synonym: "increased decidual natural killer cell number" EXACT [] synonym: "increased decidual NK cell number" EXACT [] synonym: "increased dNK cell number" EXACT [] synonym: "increased GMG cell number" EXACT [] synonym: "increased granulated metrial gland cell number" EXACT [] synonym: "increased uNK cell number" EXACT [] synonym: "increased uterine natural killer cell number" EXACT [] xref: CL:0002343 is_a: MP:0008054 ! abnormal uterine NK cell morphology [Term] id: MP:0009395 name: increased nucleated erythrocyte cell number def: "presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells" [MGI:smb] synonym: "increased immature erythrocyte cell number" EXACT [] synonym: "increased immature RBC cell number" RELATED [] synonym: "increased immature red blood cell number" RELATED [] synonym: "increased nucleated RBC cell number" RELATED [] synonym: "increased nucleated red blood cell number" RELATED [] synonym: "persistence of embryonic erythrocytes" NARROW [] synonym: "persistence of primitive erythrocytes" NARROW [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0009396 name: small endometrial glands def: "decrease in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus" [MGI:anna] synonym: "small glandulae uterinae" EXACT [] synonym: "small uterine glands" EXACT [] is_a: MP:0009094 ! abnormal endometrial gland morphology [Term] id: MP:0009397 name: increased trophoblast giant cell number def: "greater than normal number of cells of the extraembryonic cell layer that contributes to the placenta" [MGI:anna] is_a: MP:0005033 ! abnormal trophoblast giant cells [Term] id: MP:0009398 name: abnormal skeletal muscle fiber size def: "anomaly in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology [Term] id: MP:0009399 name: increased skeletal muscle fiber size alt_id: MP:0003399 def: "increase in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb] synonym: "skeletal muscle fiber hypertrophy" EXACT [] is_a: MP:0009398 ! abnormal skeletal muscle fiber size [Term] id: MP:0009400 name: decreased skeletal muscle fiber size def: "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb] synonym: "reduced skeletal muscle fiber size" EXACT [] is_a: MP:0009398 ! abnormal skeletal muscle fiber size [Term] id: MP:0009401 name: increased skeletal muscle fiber diameter def: "increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith] is_a: MP:0009399 ! increased skeletal muscle fiber size [Term] id: MP:0009402 name: decreased skeletal muscle fiber diameter def: "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith] synonym: "reduced skeletal muscle fiber diameter" EXACT [] is_a: MP:0009400 ! decreased skeletal muscle fiber size [Term] id: MP:0009403 name: increased variability of skeletal muscle fiber size def: "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith] is_a: MP:0009398 ! abnormal skeletal muscle fiber size [Term] id: MP:0009404 name: centrally nucleated skeletal muscle fibers def: "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith] synonym: "centrally localized nuclei in skeletal muscle fibers" EXACT [] synonym: "centronuclear myopathy" BROAD [] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology [Term] id: MP:0009405 name: increased skeletal muscle fiber number def: "increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology [Term] id: MP:0009406 name: decreased skeletal muscle fiber number def: "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology [Term] id: MP:0009407 name: increased skeletal muscle fiber density def: "increase in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle" [MGI:csmith] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0009408 name: decreased skeletal muscle fiber density def: "decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle" [MGI:csmith] synonym: "reduced skeletal muscle fiber density" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0009409 name: abnormal skeletal muscle fiber type ratio def: "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith] synonym: "abnormal skeletal muscle fiber distribution" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0009410 name: abnormal skeletal muscle satellite cell proliferation def: "anomaly in the ability of unfused cells in skeltal muscle to undergo expansion by cell division, usually triggered by injury or disease" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0009411 name: abnormal skeletal muscle fiber triad morphology def: "any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads" [MGI:csmith] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology [Term] id: MP:0009412 name: skeletal muscle fiber degeneration def: "pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology is_a: MP:0009415 ! skeletal muscle degeneration [Term] id: MP:0009413 name: skeletal muscle fiber atrophy def: "acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:csmith] is_a: MP:0009400 ! decreased skeletal muscle fiber size is_a: MP:0009417 ! skeletal muscle atrophy [Term] id: MP:0009414 name: skeletal muscle fiber necrosis def: "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith] is_a: MP:0003084 ! abnormal skeletal muscle fiber morphology is_a: MP:0003852 ! skeletal muscle necrosis [Term] id: MP:0009415 name: skeletal muscle degeneration def: "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith] is_a: MP:0000749 ! muscle degeneration is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0009416 name: cardiac muscle degeneration def: "pathological deterioration of cardiac muscle tissue, often accompanied by loss of function" [MGI:csmith] synonym: "myocardial degeneration" NARROW [] is_a: MP:0000749 ! muscle degeneration is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology [Term] id: MP:0009417 name: skeletal muscle atrophy def: "acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002269 ! muscular atrophy is_a: MP:0010240 ! decreased skeletal muscle size [Term] id: MP:0009418 name: cardiac muscle atrophy def: "acquired diminution of cardiac muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002269 ! muscular atrophy is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology [Term] id: MP:0009419 name: skeletal muscle fibrosis def: "formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0009420 name: skeletal muscle endomysial fibrosis def: "replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers" [MGI:csmith] is_a: MP:0009419 ! skeletal muscle fibrosis [Term] id: MP:0009421 name: increased gastrocnemius weight def: "increase in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [ISBN:0-683-40008-8] is_a: MP:0003082 ! abnormal gastrocnemius morphology [Term] id: MP:0009422 name: decreased gastrocnemius weight def: "reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [ISBN:0-683-40008-8] synonym: "reduced gastrocnemius weight" RELATED [] is_a: MP:0003082 ! abnormal gastrocnemius morphology [Term] id: MP:0009423 name: increased extensor digitorum longus weight def: "increase in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle" [MGI:smb] synonym: "increased EDL weight" EXACT [] is_a: MP:0004246 ! abnormal extensor digitorum longus morphology [Term] id: MP:0009424 name: decreased extensor digitorum longus weight def: "reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle" [MGI:smb] synonym: "decreased EDL weight" EXACT [] synonym: "reduced EDL weight" EXACT [] synonym: "reduced extensor digitorum longus weight" EXACT [] is_a: MP:0004246 ! abnormal extensor digitorum longus morphology [Term] id: MP:0009425 name: increased soleus weight def: "increase in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [MGI:smb] is_a: MP:0003081 ! abnormal soleus morphology [Term] id: MP:0009426 name: decreased soleus weight def: "reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [MGI:smb] synonym: "reduced soleus weight" EXACT [] is_a: MP:0003081 ! abnormal soleus morphology [Term] id: MP:0009427 name: increased tibialis anterior weight def: "increase in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [MGI:smb] synonym: "increased TA weight" EXACT [] is_a: MP:0003083 ! abnormal tibialis anterior morphology [Term] id: MP:0009428 name: decreased tibialis anterior weight def: "redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [MGI:smb] synonym: "decreased TA weight" EXACT [] synonym: "reduced TA weight" EXACT [] synonym: "reduced tibialis anterior weight" EXACT [] is_a: MP:0003083 ! abnormal tibialis anterior morphology [Term] id: MP:0009429 name: decreased embryo weight def: "reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith] synonym: "reduced embryo weight" EXACT [] is_a: MP:0001698 ! decreased embryo size [Term] id: MP:0009430 name: increased embryo weight def: "increase in the weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith] is_a: MP:0001699 ! increased embryo size [Term] id: MP:0009431 name: decreased fetal weight def: "reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith] synonym: "reduced fetal weight" EXACT [] is_a: MP:0004200 ! decreased fetal size [Term] id: MP:0009432 name: increased fetal weight def: "increase in the weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith] is_a: MP:0004199 ! increased fetal size [Term] id: MP:0009433 name: polyovular ovarian follicle def: "an ovarian follicle containing more than one oocyte (ovum)" [MGI:anna] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0009434 name: paraparesis def: "a weakness affecting lower or hind limbs" [MGI:llw2] synonym: "hindlimb weakness" EXACT [] synonym: "leg weakness" EXACT [] is_a: MP:0000746 ! weakness [Term] id: MP:0009435 name: abnormal miniature inhibitory postsynaptic currents def: "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith] synonym: "abnormal mIPSCs" EXACT [] synonym: "abnormal sIPSCs" EXACT [] synonym: "abnormal spontaneous inhibitory postsynaptic currents" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0009436 name: fragmentation of sleep/wake states def: "short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls" [PMID:19246384] is_a: MP:0001501 ! abnormal sleep pattern [Term] id: MP:0009437 name: fusion of arytenoid and cricoid cartilages def: "union of the arytenoid and cricoid cartilages into one structure, when this fusion does not normally occur" [MGI:smb] is_a: MP:0002257 ! abnormal arytenoid cartilage morphology is_a: MP:0002258 ! abnormal cricoid cartilage morphology [Term] id: MP:0009438 name: fusion of cricoid and tracheal cartilages def: "union of the cricoid cartilage and one or more of the tracheal rings into one structure, when this fusion does not normally occur" [MGI:smb] is_a: MP:0002258 ! abnormal cricoid cartilage morphology is_a: MP:0003120 ! abnormal tracheal cartilage morphology [Term] id: MP:0009439 name: myeloid sarcoma def: "malignant tumor of immature myeloid cells, often associaed with or preceeding granulocytic leukemia" [ISBN:0-683-40008-8] synonym: "EMMT" EXACT [] synonym: "extramedullary myeloid tumors" EXACT [] synonym: "granulocytic sarcoma" EXACT [] is_a: MP:0002032 ! sarcoma is_a: MP:0010296 ! increased hemolymphoid system tumor incidence [Term] id: MP:0009440 name: myeloma def: "tumor composed of cells derived from hemopoietic tissues of the bone marrow" [ISBN:0-683-40008-8] synonym: "plasma cell tumor" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010296 ! increased hemolymphoid system tumor incidence [Term] id: MP:0009441 name: delayed skin barrier formation def: "slowed progression in the establishment of the ability of the skin to regulate water loss" [MGI:smb] is_a: MP:0003941 ! abnormal skin development [Term] id: MP:0009442 name: ovarian teratoma def: "a usually benign tumor found in the ovary that is the result of an anomaly of oogenesis and typically contains a diversity of tissues often representing all organ systems e.g. hair, teeth, bone, thyroid, nerve tissue" [MGI:llw2] synonym: "ovarian dermoid cyst" EXACT [] is_a: MP:0002627 ! teratoma is_a: MP:0008000 ! increased ovary tumor incidence [Term] id: MP:0009443 name: parthenogenesis def: "development of an egg into a diploid embryo without being fertilized" [MGI:llw2] synonym: "parthenogenetic embryo" EXACT [] synonym: "unigenesis" EXACT [] is_a: MP:0005168 ! abnormal female meiosis [Term] id: MP:0009444 name: ovarian follicular cyst def: "a sac filled with fluid that may develop when the structure containing the egg fails to break open at the time of ovulation" [MGI:llw2] is_a: MP:0001131 ! abnormal ovarian follicle morphology is_a: MP:0002016 ! ovary cysts [Term] id: MP:0009445 name: osteomalacia def: "gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction" [MGI:anna] synonym: "adult rickets" EXACT [] synonym: "increased osteoid amount" RELATED [] synonym: "late rickets" EXACT [] synonym: "rachitis tarda" EXACT [] is_a: MP:0002896 ! abnormal bone mineralization [Term] id: MP:0009446 name: abnormal platelet dense granule physiology def: "any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine" [MGI:llw2] synonym: "abnormal delta granule physiology" EXACT [] synonym: "abnormal dense body physiology" EXACT [] is_a: MP:0005464 ! abnormal platelet physiology [Term] id: MP:0009447 name: abnormal platelet ATP level def: "anomaly in the amount of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2] synonym: "abnormal platelet adenosine triphosphate level" EXACT [] is_a: MP:0004721 ! abnormal platelet dense granule morphology [Term] id: MP:0009448 name: decreased platelet ATP level def: "reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2] synonym: "decreased platelet adenosine triphosphate level" EXACT [] synonym: "reduced platelet ATP level" EXACT [] is_a: MP:0009447 ! abnormal platelet ATP level [Term] id: MP:0009449 name: increased platelet ATP level def: "increased concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2] synonym: "increased platelet adenosine triphosphate level" EXACT [] is_a: MP:0009447 ! abnormal platelet ATP level [Term] id: MP:0009450 name: abnormal axon fasiculation def: "anomaly in the process by which axons form into bundles" [MGI:smb] synonym: "abnormal axonal fasciculation" EXACT [] synonym: "abnormal fasciculation of neuron" EXACT [] xref: GO:0007413 is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0009451 name: abnormal chromosome pairing during meiosis def: "an anomaly in the highly specific side-by-side association of homologous chromosomes during first prophase of meiosis" [MGI:llw2] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0009452 name: abnormal synaptonemal complex def: "an anomaly in the formation of the proteinaceous structure involved in the pairing of homologous chromosomes during first prophase of meiosis" [MGI:llw2] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0009453 name: enhanced contextual conditioning behavior def: "increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb] synonym: "enhanced contextual fear conditioning" EXACT [] is_a: MP:0001469 ! abnormal contextual conditioning behavior [Term] id: MP:0009454 name: impaired contextual conditioning behavior def: "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb] synonym: "impaired contextual fear conditioning" EXACT [] is_a: MP:0001469 ! abnormal contextual conditioning behavior [Term] id: MP:0009455 name: enhanced cued conditioning behavior def: "increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)" [MGI:smb] synonym: "enhanced cued fear conditioning" EXACT [] is_a: MP:0001454 ! abnormal cued conditioning behavior [Term] id: MP:0009456 name: impaired cued conditioning behavior def: "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)" [MGI:smb] synonym: "impaired cued fear conditioning" EXACT [] is_a: MP:0001454 ! abnormal cued conditioning behavior [Term] id: MP:0009457 name: whorled hair def: "an area of hair growing opposite in direction to the rest of the hair, a curl or swirl" [MGI:llw2] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0009458 name: abnormal skeletal muscle size def: "anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body" [ISBN:0-683-40008-8, MGI:llw2] is_a: MP:0004817 ! abnormal skeletal muscle mass [Term] id: MP:0009459 name: skeletal muscle hyperplasia def: "overdevelopment or increased size of the skeletal muscle, usually due an increased number of cells" [MGI:llw2] is_a: MP:0003398 ! increased skeletal muscle size [Term] id: MP:0009460 name: skeletal muscle hypoplasia def: "underdevelopment or decreased size of the skeletal muscle, usually due an decreased number of cells" [MGI:llw2] is_a: MP:0010240 ! decreased skeletal muscle size [Term] id: MP:0009461 name: skeletal muscle hypertrophy def: "increase in the bulk size of the skeletal muscle due to cell enlargement" [MGI:llw2] is_a: MP:0003398 ! increased skeletal muscle size [Term] id: MP:0009462 name: skeletal muscle hypotrophy def: "decrease in the bulk size of the skeletal muscle due to cell shrinkage" [MGI:llw2] is_a: MP:0010240 ! decreased skeletal muscle size [Term] id: MP:0009463 name: abnormal pituitary infundibular stalk morphology def: "any structural anomaly of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland" [ISBN:0-683-40008-8] synonym: "abnormal hypophyseal stalk" EXACT [] synonym: "abnormal infundibular stem morphology" EXACT [] synonym: "abnormal pituitary infundibulum" EXACT [] synonym: "abnormal pituitary stalk morphology" EXACT [] is_a: MP:0004164 ! abnormal neurohypophysis morphology [Term] id: MP:0009465 name: abnormal gallbladder infundibulum morphology def: "any structural anomaly of the tapering portion of the gall bladder that narrows to form the neck and cystic duct" [ISBN:0-683-40008-8] synonym: "abnormal gall bladder infundibulum morphology" EXACT [] synonym: "abnormal infundibulum of gallbladder" EXACT [] synonym: "abnormal infundibulum vesicae biliaris" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0009466 name: abnormal uterine tube infundibulum morphology def: "any structural anomaly of the funnel-like expansion of the abdominal extremity of the uterine tube" [ISBN:0-683-40008-8] synonym: "abnormal infundibulum of uterine tube" EXACT [] is_a: MP:0003574 ! abnormal oviduct morphology [Term] id: MP:0009467 name: abnormal magnocellular neurosecretory cell morphology def: "any structural anomaly of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin" [PMID:10711808] synonym: "abnormal magnocellular neuron morphology" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology is_a: MP:0010913 ! abnormal neuroendocrine cell morphology [Term] id: MP:0009468 name: absent magnocellular neurosecretory cells def: "absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin" [PMID:10711808] is_a: MP:0009467 ! abnormal magnocellular neurosecretory cell morphology [Term] id: MP:0009469 name: skin hamartoma def: "a benign formation of a mass of tissue of disproportionate size and distribution in the skin, but composed of an overgrowth of mature cells and tissues that normally occur in this tissue" [MGI:llw2] is_a: MP:0010300 ! increased skin tumor incidence is_a: MP:0010306 ! increased hamartoma incidence [Term] id: MP:0009470 name: mirror image duplication def: "during embryogenesis a second structure develops with its parts arranged in a reversal of right and left orientation" [MGI:llw2] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0009471 name: abnormal urine sulfate level def: "any change in the amount of sulfate in the urine" [MGI:anna] synonym: "abnormal urine sulphate level" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0009472 name: increased urine sulfate level def: "an increase in amount of sulfates in the urine" [MGI:anna] synonym: "hypersulfaturia" EXACT [] synonym: "hypersulphaturia" EXACT [] synonym: "increased urine sulphate level" EXACT [] is_a: MP:0009471 ! abnormal urine sulfate level [Term] id: MP:0009473 name: abnormal skin exfoliation def: "anomaly in the process of detachment and shedding of superficial cells of a skin epithelium" [MGI:llw2] is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0009474 name: thick epidermis stratum spinosum def: "increased thickness of the stratum spinosum; the polyhedral cell layer" [MGI:llw2] synonym: "thick epidermal spinous layer" EXACT [] synonym: "thick prickle cell layer" EXACT [] synonym: "thick spinous layer" EXACT [] synonym: "thick stratum spinosum" EXACT [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0009475 name: abnormal nicotine-mediated receptor currents def: "change in the measured amplitude, current density or duration of response to stimulation of nicotinic receptors" [ISBN:0838580343, MGI:csmith] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0009476 name: enlarged cecum def: "increased size of the large sac at the ileum and large intestine junction" [MGI:anna] synonym: "enlarged caecum" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009477 name: small cecum def: "reduced size of the large sac at the ileum and large intestine junction" [MGI:anna] synonym: "reduced caecum size" EXACT [] synonym: "reduced cecum size" EXACT [] synonym: "small caecum" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009478 name: coiled cecum def: "corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction" [MGI:anna] synonym: "coiled caecum" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009479 name: abnormal cecum development def: "malformation or aberrant differentiation of the large sac at the ileum and large intestine junction" [MGI:anna] synonym: "abnormal caecum development" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009480 name: distended cecum def: "an expansion in the volume of the large sac at the ileum and large intestine junction, as by stretching or distention" [MGI:anna] synonym: "dilated caecum" EXACT [] synonym: "dilated cecum" EXACT [] synonym: "swollen caecum" EXACT [] synonym: "swollen cecum" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009481 name: cecum inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the cecum" [MGI:anna] synonym: "caecum inflammation" EXACT [] synonym: "cecitis" EXACT [] synonym: "typhlenteritis" EXACT [] synonym: "typhlitis" EXACT [] synonym: "typhloenteritis" EXACT [] is_a: MP:0003304 ! large intestinal inflammation [Term] id: MP:0009482 name: ileum inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the ileum" [MGI:anna] synonym: "ileitis" EXACT [] is_a: MP:0003306 ! small intestinal inflammation [Term] id: MP:0009483 name: enlarged ileum def: "increased size of the portion of the small intestine that extends from the jejunum to the colon" [MGI:anna] is_a: MP:0002581 ! abnormal ileum morphology [Term] id: MP:0009484 name: ileum hypertrophy def: "an increase in the bulk size of the portion of the small intestine that extends from the jejunum to the colon due to cell enlargement" [MGI:anna] synonym: "ileal hypertrophy" EXACT [] is_a: MP:0009483 ! enlarged ileum [Term] id: MP:0009485 name: distended ileum def: "an expansion in the volume of the portion of the small intestine that extends from the jejunum to the colon, as by stretching or distention" [MGI:anna] synonym: "dilated ileum" EXACT [] synonym: "ileal distension" EXACT [] synonym: "mega-ileum" EXACT [] synonym: "swollen ileum" EXACT [] is_a: MP:0002581 ! abnormal ileum morphology [Term] id: MP:0009486 name: rectovaginal fusion def: "fusion of the rectum and vaginal canals" [MGI:mberry] synonym: "recto-vaginal fusion" EXACT [] is_a: MP:0000492 ! abnormal rectum morphology is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0009487 name: rectourethral fusion def: "fusion of the rectum and urethral canals" [MGI:mberry] synonym: "recto-urethral fusion" EXACT [] is_a: MP:0000492 ! abnormal rectum morphology [Term] id: MP:0009488 name: pancreatic islet cell apoptosis def: "change in the timing or the number of pancreatic islet cells undergoing programmed cell death" [MGI:csmith] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0009489 name: abnormal blood vessel endothelium morphology def: "any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall" [ISBN:0-683-40008-8] xref: MA:0000709 is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0009490 name: abnormal heart left atrium auricular region morphology def: "any structural anomaly of the small conical pouch projections located on the upper anterior portion of the left atrium of the heart" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal auricula atrii sinistra morphology" EXACT [] synonym: "abnormal LAA morphology" EXACT [] synonym: "abnormal left atrial appendage morphology" EXACT [] synonym: "abnormal left auricle morphology" EXACT [] synonym: "abnormal left auricular appendage morphology" EXACT [] synonym: "abnormal left auricular appendix morphology" EXACT [] is_a: MP:0003923 ! abnormal heart left atrium morphology is_a: MP:0010489 ! abnormal heart atrium auricular region morphology [Term] id: MP:0009491 name: abnormal heart right atrium auricular region morphology def: "any structural anomaly of the small conical pouch projections located on the upper anterior portion of the right atrium of the heart" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal RAA morphology" EXACT [] synonym: "abnormal right atrial appendage morphology" EXACT [] synonym: "abnormal right auricle morphology" EXACT [] synonym: "abnormal right auricula morphology" EXACT [] synonym: "abnormal right auricular appendix morphology" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology is_a: MP:0010489 ! abnormal heart atrium auricular region morphology [Term] id: MP:0009492 name: abnormal gallbladder epithelium morphology def: "any structural anomaly of the simple columnar epithelial lining of the gall bladder" [MGI:csmith] synonym: "abnormal gall bladder epithelium morphology" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0009493 name: abnormal cystic duct morphology def: "any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct" [ISBN:0-683-40008-8] synonym: "abnormal cystic gall duct morphology" EXACT [] synonym: "abnormal ductus cysticus morphology" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology is_a: MP:0009498 ! abnormal extrahepatic bile duct morphology [Term] id: MP:0009494 name: abnormal biliary ductule morphology def: "any structural anomaly of the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct" [ISBN:0-683-40008-8] synonym: "abnormal cannalicular ductule morphology" EXACT [] synonym: "abnormal ductuli biliferi" EXACT [] synonym: "abnormal intrahepatic bile duct morphology" BROAD [] is_a: MP:0009497 ! abnormal intrahepatic bile duct morphology [Term] id: MP:0009495 name: abnormal common bile duct morphology def: "any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct" [MGI:csmith] synonym: "abnormal choledoch duct" EXACT [] synonym: "abnormal ductus choledochus" EXACT [] is_a: MP:0009498 ! abnormal extrahepatic bile duct morphology [Term] id: MP:0009496 name: abnormal common hepatic duct morphology def: "any structural anomaly of the part of the biliary tree formed by the union of the right and left hepatic ducts, and joins the cystic duct to form the common bile duct" [MGI:csmith] synonym: "abnormal ductus hepaticus communis" EXACT [] synonym: "anbormal hepatocystic duct morphology" EXACT [] is_a: MP:0009498 ! abnormal extrahepatic bile duct morphology [Term] id: MP:0009497 name: abnormal intrahepatic bile duct morphology def: "any structural anomaly of the passages within the liver for the conveyance of bile" [MESH:A03.159.183.158] synonym: "abnormal intrahepatic biliary system morphology" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0009498 name: abnormal extrahepatic bile duct morphology def: "any structural anomaly of the passages external to the liver for the conveyance of bile" [MESH:A03.159.183.079] synonym: "abnormal extrahepatic biliary system morphology" EXACT [] is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0009499 name: abnormal intralobular bile duct morphology def: "any structural anomaly of the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule" [MGI:csmith] synonym: "abnormal canal of Hering" EXACT [] synonym: "abnormal intrahepatic bile ductule morphology" EXACT [] is_a: MP:0008987 ! abnormal liver lobule morphology is_a: MP:0009497 ! abnormal intrahepatic bile duct morphology [Term] id: MP:0009500 name: abnormal interlobular bile duct morphology def: "any structural anomaly of the canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad" [MGI:csmith] synonym: "abnormal interlobular ductule morphology" EXACT [] is_a: MP:0008993 ! abnormal portal triad morphology is_a: MP:0009497 ! abnormal intrahepatic bile duct morphology [Term] id: MP:0009501 name: abnormal hepatic duct morphology def: "any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct" [MGI:csmith] comment: Note that part of the hepatic ducts are located within the liver and part is extrahepatic. is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0009502 name: abnormal areola morphology def: "any structural anomaly of the circular pigmented region of the breast that surrounds the nipple and delineates the area containing the areolar glands" [ISBN:0-683-40008-8] synonym: "abnormal areola mammae" EXACT [] synonym: "abnormal areola of nipple" EXACT [] synonym: "abnormal areola papillaris" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0009503 name: abnormal mammary gland duct morphology def: "any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal canalicular duct morphology" EXACT [] synonym: "abnormal ductus lactiferi morphology" EXACT [] synonym: "abnormal galactophore morphology" EXACT [] synonym: "abnormal galactophorus canal morphology" EXACT [] synonym: "abnormal galactophorus duct morphology" EXACT [] synonym: "abnormal lactiferous duct morphology" EXACT [] synonym: "abnormal mammary duct morphology" EXACT [] synonym: "abnormal mammilary duct morphology" EXACT [] synonym: "abnormal milk duct morphology" EXACT [] synonym: "abnormal tubuli galactophori morphology" EXACT [] synonym: "abnormal tubuli lactiferi" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0009504 name: abnormal mammary gland epithelium morphology def: "any structural anomaly of the epithelial layer of the luminal surfaces of the mammary gland" [MGI:csmith] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0009505 name: abnormal mammary gland lobule morphology def: "any structural anomaly of a group of alveoli and the intralobular portion of the terminal duct of the mammary gland" [MGI:csmith] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0009506 name: abnormal mammary gland alveolus morphology def: "any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy" [MGI:csmith] synonym: "abnormal mammary gland alveolar morphology" EXACT [] synonym: "abnormal mammary gland alveoli" EXACT [] is_a: MP:0009505 ! abnormal mammary gland lobule morphology [Term] id: MP:0009507 name: abnormal mammary gland connective tissue morphology def: "any structural anomaly of the fibrous supportive tissue of the mammary gland" [MGI:csmith] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0009508 name: mammary gland ductal carcinoma def: "higher than normal incidence of malignant tumors of the ducts of the mammary gland" [MGI:csmith] synonym: "ductal carcinoma in situ" EXACT [] is_a: MP:0002038 ! carcinoma is_a: MP:0010299 ! increased mammary gland tumor incidence [Term] id: MP:0009509 name: absent rectum def: "absence or loss of the terminal portion of the intestinal tube adjacent to the anus" [MGI:anna] is_a: MP:0000492 ! abnormal rectum morphology [Term] id: MP:0009510 name: cecal atresia def: "congenital blockage or absence of the lumen of the cecum" [MGI:anna] synonym: "caecum atresia" EXACT [] synonym: "cecum atresia" EXACT [] is_a: MP:0000494 ! abnormal cecum morphology [Term] id: MP:0009511 name: distended stomach def: "an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention" [MGI:anna] synonym: "dilated stomach" EXACT [] synonym: "gastric distension" EXACT [] synonym: "swollen stomach" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0009512 name: abnormal cerebellar Golgi cell morphology def: "any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat" [MGI:anna] synonym: "abnormal Golgi cell" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer [Term] id: MP:0009514 name: titubation def: "posture distinguished by a faltering gait while walking and/or a swaying motion of the trunk or head while resting; often is a characteristic of cellebellar disease" [MGI:llw2] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0009515 name: gastrointestinal stromal tumor def: "non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract; approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum; GISTs are tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas" [http://en.wikipedia.org/wiki/Gastrointestinal_stromal_tumor, MGI:anna, OMIM:606764] synonym: "GISTs" EXACT [] is_a: MP:0010279 ! increased gastrointestinal tumor incidence [Term] id: MP:0009516 name: enlarged salivary gland def: "increased size of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0009517 name: abnormal salivary gland duct morphology def: "any structural anomaly of the tubular canals that carry saliva" [ISBN:0-683-40008-8] synonym: "abnormal striated duct morphology" NARROW [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0009518 name: abnormal anterior lingual gland morphology def: "any structural anomaly of the small glands located near the apex of the tongue on either side of the frenulum" [ISBN:0-683-40008-8] synonym: "abnormal apical gland morphology" EXACT [] synonym: "abnormal Bauhin gland morphology" EXACT [] synonym: "abnormal Blandin gland morphology" EXACT [] synonym: "abnormal glandula lingualis anterior morphology" EXACT [] synonym: "abnormal lingual gland morphology" EXACT [] synonym: "abnormal Nuhn gland morphology" EXACT [] is_a: MP:0003791 ! abnormal minor salivary gland morphology [Term] id: MP:0009519 name: abnormal anterior buccal gland morphology def: "any structural anomaly of the racemose, mucous or serous glands in the submucous tissue of the cheeks" [ISBN:0-683-40008-8] synonym: "abnormal buccal gland morphology" EXACT [] synonym: "abnormal genal gland morphology" EXACT [] synonym: "abnormal glanduale buccales morphology" EXACT [] is_a: MP:0003745 ! abnormal mucosal lining of the mouth is_a: MP:0003791 ! abnormal minor salivary gland morphology [Term] id: MP:0009520 name: decreased submandibular gland size def: "reduced size of either of the large major salivary glands situated beneath the mandible" [MGI:csmith] synonym: "decreased maxillary gland size" EXACT [] synonym: "decreased submaxillary gland size" EXACT [] synonym: "reduced submandibular gland size" EXACT [] synonym: "reduced submaxillary gland size" EXACT [] synonym: "small maxillary gland" EXACT [] synonym: "small submandibular gland" EXACT [] synonym: "small submaxillary gland" EXACT [] is_a: MP:0003793 ! abnormal submandibular gland morphology [Term] id: MP:0009521 name: increased submandibular gland size def: "increased size of either of the large major salivary glands situated beneath the mandible" [MGI:csmith] synonym: "enlarged maxillary gland" EXACT [] synonym: "enlarged submandibular gland" EXACT [] synonym: "enlarged submaxillary gland" EXACT [] synonym: "increased maxillary gland size" EXACT [] synonym: "increased submaxillary gland size" EXACT [] is_a: MP:0003793 ! abnormal submandibular gland morphology [Term] id: MP:0009522 name: submandibular gland hypoplasia def: "underdevelopment or reduced size of either of the large major salivary glands situated beneath the mandible, usually due to reduced cell number" [MGI:csmith] synonym: "hypoplastic maxillary gland" EXACT [] synonym: "hypoplastic submandibular gland" EXACT [] synonym: "hypoplastic submaxillary gland" EXACT [] synonym: "maxillary gland hypoplasia" EXACT [] synonym: "submaxillary gland hypoplasia" EXACT [] is_a: MP:0009520 ! decreased submandibular gland size [Term] id: MP:0009523 name: submandibular gland hyperplasia def: "overdevelopment or increased size of either of the large major salivary glands situated beneath the mandible, usually due to an increase in the number of cells" [MGI:csmith] synonym: "hyperplastic maxillary gland" EXACT [] synonym: "hyperplastic submandibular gland" EXACT [] synonym: "hyperplastic submaxillary gland" EXACT [] synonym: "maxillary gland hyperplasia" EXACT [] synonym: "submaxillary gland hyperplasia" EXACT [] is_a: MP:0009521 ! increased submandibular gland size [Term] id: MP:0009524 name: absent submandibular gland def: "absence of either of the large major salivary glands situated beneath the mandible" [MGI:csmith] synonym: "absent maxillary gland" EXACT [] synonym: "absent submaxillary gland" RELATED [] is_a: MP:0003793 ! abnormal submandibular gland morphology [Term] id: MP:0009525 name: abnormal submandibular duct morphology def: "any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue" [ISBN:0-683-40008-8] synonym: "abnormal submaxillary duct morphology" EXACT [] synonym: "abnormal Wharton duct morphology" EXACT [] synonym: "abnormal Wharton's duct morphology" EXACT [] is_a: MP:0003793 ! abnormal submandibular gland morphology is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0009526 name: absent sublingual gland def: "absence of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland" [MGI:csmith] synonym: "absent Rivinus gland" EXACT [] is_a: MP:0004035 ! abnormal sublingual gland morphology [Term] id: MP:0009527 name: abnormal sublingual duct morphology def: "any structural anomaly of the canals that drain the sublingual gland" [MGI:csmith] is_a: MP:0004035 ! abnormal sublingual gland morphology is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0009528 name: abnormal major sublingual duct morphology def: "any structural anomaly of the duct that drains the anterior portion of the sublingual gland and opens at the sublingual papilla" [ISBN:0-683-40008-8] synonym: "abnormal Bartholin duct morphology" EXACT [] is_a: MP:0009527 ! abnormal sublingual duct morphology [Term] id: MP:0009529 name: abnormal minor sublingual duct morphology def: "any structural anomaly of the 8-20 small ducts that open into the mouth on the surface of the sublingual fold" [ISBN:0-683-40008-8] synonym: "abnormal Rivinus duct morphology" EXACT [] synonym: "abnormal Walther duct morphology" EXACT [] synonym: "abnormal Wather canal morphology" EXACT [] is_a: MP:0009527 ! abnormal sublingual duct morphology [Term] id: MP:0009530 name: abnormal parotid duct morphology def: "any structural anomaly of the canal that drains the parotid gland and opens from the cheek into the vestibule of the mouth" [ISBN:0-683-40008-8] synonym: "abnormal Blasius duct morphology" EXACT [] synonym: "abnormal Steno duct morphology" EXACT [] synonym: "abnormal Stensen duct morphology" EXACT [] is_a: MP:0003452 ! abnormal parotid gland morphology is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0009531 name: increased parotid gland size def: "increased size of either of the largest of the major salivary glands situated below and in front of each ear" [MGI:csmith] synonym: "enlarged parotid gland" EXACT [] synonym: "increased external salivary gland size" EXACT [] synonym: "increased glandula parotidea size" EXACT [] synonym: "increased glandula parotis size" EXACT [] is_a: MP:0003452 ! abnormal parotid gland morphology [Term] id: MP:0009532 name: decreased parotid gland size def: "reduced size of either of the largest of the major salivary glands situated below and in front of each ear" [MGI:csmith] synonym: "decreased external salivary gland size" EXACT [] synonym: "decreased glandula parotidea size" EXACT [] synonym: "decreased glandula parotis size" EXACT [] synonym: "reduced external salivary gland size" EXACT [] synonym: "reduced glandula parotidea size" EXACT [] synonym: "reduced glandula parotis size" EXACT [] synonym: "reduced parotid gland size" EXACT [] synonym: "small parotid gland" RELATED [] is_a: MP:0003452 ! abnormal parotid gland morphology [Term] id: MP:0009533 name: absent palatine gland def: "absence of the salivary gland of the hard palate" [ISBN:0-683-40008-8] synonym: "absent glandulae palatinae" EXACT [] is_a: MP:0000615 ! abnormal palatine gland morphology [Term] id: MP:0009534 name: absent anterior lingual gland def: "absence of the small glands located near the apex of the tongue on either side of the frenulum" [ISBN:0-683-40008-8] synonym: "absent apical gland" EXACT [] synonym: "absent Bauhin gland" EXACT [] synonym: "absent Blandin gland" EXACT [] synonym: "absent glandula lingualis anterior" EXACT [] synonym: "absent lingual gland" EXACT [] synonym: "absent Nuhn gland" EXACT [] is_a: MP:0009518 ! abnormal anterior lingual gland morphology [Term] id: MP:0009535 name: abnormal skin sebaceous gland morphology def: "any structural anomaly of the holocrine glands of the dermis that secrete sebum into the hair follicles" [ISBN:0-683-40008-8] is_a: MP:0000647 ! abnormal sebaceous gland morphology is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0009536 name: abnormal interstitial cell of Cajal morphology def: "any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction" [MGI:anna, PMID:16460275] synonym: "abnormal ICC morphology" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0009537 name: interstitial cells of Cajal hyperplasia def: "increased number of the pacemaker cells of the gastrointestinal tract which mediate inputs from the enteric nervous system to smooth muscle cells and trigger gut contraction" [MGI:anna, PMID:16460275] synonym: "ICC hyperplasia" EXACT [] is_a: MP:0009536 ! abnormal interstitial cell of Cajal morphology [Term] id: MP:0009538 name: abnormal synapse morphology def: "any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8, MESH:A08.850] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0009539 name: abnormal Hassall's corpuscle morphology def: "any structural anomaly of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages" [ISBN:0-683-40008-8] synonym: "abnormal Hassal body morphology" EXACT [] synonym: "abnormal Hassall concentric corpuscle morphology" EXACT [] synonym: "abnormal thymic corpuscle morphology" EXACT [] synonym: "abnormal Virchow-Hassall body morphology" EXACT [] is_a: MP:0002375 ! abnormal thymus medulla morphology is_a: MP:0009544 ! abnormal thymus epithelium morphology [Term] id: MP:0009540 name: absent Hassall's corpuscle def: "absence of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages" [ISBN:0-683-40008-8] is_a: MP:0009539 ! abnormal Hassall's corpuscle morphology [Term] id: MP:0009541 name: increased thymocyte apoptosis def: "increase in the number of immature T cells located in the thymus that are undergoing programmed cell death" [CL:0000893, MGI:csmith] is_a: MP:0006413 ! increased T cell apoptosis is_a: MP:0009258 ! abnormal thymocyte apoptosis [Term] id: MP:0009542 name: decreased thymocyte apoptosis def: "reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death" [CL:0000893, MGI:csmith] synonym: "reduced thymocyte apoptosis" EXACT [] is_a: MP:0006414 ! decreased T cell apoptosis is_a: MP:0009258 ! abnormal thymocyte apoptosis [Term] id: MP:0009543 name: abnormal thymus corticomedullary boundary morphology def: "any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells" [MGI:csmith, PMID:17067941] synonym: "abnormal thymic corticomedullary boundary morphology" EXACT [] synonym: "abnormal thymus CMZ morphology" EXACT [] synonym: "abnormal thymus cortico-medullary boundary" EXACT [] synonym: "abnormal thymus cortico-medullary junction" EXACT [] synonym: "abnormal thymus cortico-medullary zone" EXACT [] synonym: "abnormal thymus corticomedullary zone morphology" EXACT [] is_a: MP:0002367 ! abnormal thymus lobule morphology [Term] id: MP:0009544 name: abnormal thymus epithelium morphology def: "any structural anomaly of the supporting framework of the thymus" [MGI:csmith, PMID:17067941] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0009545 name: abnormal dermis papillary layer morphology alt_id: MP:0001250 def: "any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis" [ISBN:0-683-40008-8] synonym: "abnormal corpus papillary morphology" EXACT [] synonym: "abnormal papillary layer morphology" EXACT [] synonym: "abnormal stratum papillare corii morphology" EXACT [] synonym: "abnormal stratum papillare morphology" EXACT [] synonym: "abnormal superficial dermis morphology" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0009546 name: absent gastric milk in neonates def: "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2] synonym: "absence of milk in stomach" EXACT [] synonym: "absent milk spots" EXACT [] is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0009547 name: elliptocytosis def: "hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape" [MGI:llw2] synonym: "cigar cells" EXACT [] synonym: "cigar-shaped erythrocytes" EXACT [] synonym: "oval-shaped erythrocytes" EXACT [] synonym: "ovalocytes" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0009548 name: abnormal platelet aggregation def: "any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules" [GO:0070527] synonym: "abnormal blood platelet aggregation" EXACT [] synonym: "abnormal thrombocyte aggregation" EXACT [] is_a: MP:0006298 ! abnormal platelet activation [Term] id: MP:0009549 name: decreased platelet aggregation def: "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527] synonym: "decreased blood platelet aggregation" RELATED [] synonym: "decreased thrombocyte aggregation" EXACT [] synonym: "impaired platelet aggregation" EXACT [] synonym: "reduced platelet aggregation" EXACT [] is_a: MP:0009548 ! abnormal platelet aggregation [Term] id: MP:0009550 name: urinary bladder carcinoma def: "a malignant neoplasm of the urinary bladder, arising from epithelial cells" [MGI:anna] is_a: MP:0002038 ! carcinoma is_a: MP:0010289 ! increased urinary system tumor incidence [Term] id: MP:0009551 name: urinary bladder transitional cell carcinoma def: "a malignant neoplasm of the transitional epithelial layer of the urinary bladder" [MGI:anna] is_a: MP:0009550 ! urinary bladder carcinoma [Term] id: MP:0009552 name: urinary bladder obstruction def: "any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine" [MGI:anna] synonym: "cystis urinaria obstruction" EXACT [] synonym: "urocyst obstruction" EXACT [] synonym: "urocystis obstruction" EXACT [] synonym: "vesica obstruction" EXACT [] synonym: "vesica urinaria obstruction" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0009553 name: fused lips def: "an anomaly of the fleshy margins of the mouth resulting in the lips being joined together into one structure" [MGI:mberry] is_a: MP:0003769 ! abnormal lip morphology [Term] id: MP:0009554 name: abnormal hair follicle melanin granule shape def: "the form of pigment polymers in the hair follicle differs compared to controls" [MGI:llw2] is_a: MP:0005072 ! abnormal hair follicle melanin granule morphology [Term] id: MP:0009555 name: abnormal hair follicle melanin granule distribution def: "anomaly in the spatial arrangement of particles produced by melanocytes that confer color in the hair follicle" [MGI:llw2] is_a: MP:0005072 ! abnormal hair follicle melanin granule morphology [Term] id: MP:0009556 name: abnormal platelet ADP level def: "anomaly in the amount of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry] synonym: "abnormal platelet adenosine diphosphate level" EXACT [] is_a: MP:0004721 ! abnormal platelet dense granule morphology [Term] id: MP:0009557 name: decreased platelet ADP level def: "reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry] synonym: "decreased platelet adenosine diphosphate level" EXACT [] synonym: "reduced platelet ADP level" EXACT [] is_a: MP:0009556 ! abnormal platelet ADP level [Term] id: MP:0009558 name: increased platelet ADP level def: "increased concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry] synonym: "increased platelet adenosine diphosphate level" EXACT [] is_a: MP:0009556 ! abnormal platelet ADP level [Term] id: MP:0009559 name: thymus cortex hyperplasia def: "overdevelopment or increased size, usually due to an increased cell number, of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes" [ISBN:0-683-40008-8, MGI:csmith] synonym: "hyperplasia of thymic cortex" EXACT [] synonym: "increased cellularity of thymic cortex" EXACT [] synonym: "increased thymic cortex cellularity" EXACT [] synonym: "thymic cortex hyperplasia" EXACT [] is_a: MP:0002371 ! abnormal thymus cortex morphology [Term] id: MP:0009560 name: absent epidermis stratum granulosum def: "absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8] synonym: "absent epidermal granular layer" EXACT [] synonym: "absent granular layer" EXACT [] synonym: "absent stratum granulosum" EXACT [] is_a: MP:0001239 ! abnormal epidermis stratum granulosum morphology [Term] id: MP:0009561 name: superior cervical ganglion degeneration def: "retrogressive pathological change or loss of the largest group of paravertebral ganglia of the sympathetic trunk which normally lies at the base of the skull and innervates the head and neck" [MGI:anna] synonym: "degeneration of ganglion cervicale superius" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0009562 name: abnormal odor adaptation def: "altered ability or failure of the olfactory receptor neurons to adapt to ambient conditions by time-dependent modification in the sensitivity to a given odorant stimulus, as seen in the decline of the sensory response during prolonged odor stimulation; a major mechanism for the rapid calcium-calmodulin-mediated desensitization of the CNG channel" [MGI:anna] synonym: "abnormal odorant-dependent adaptation" EXACT [] synonym: "impaired odor adaptation" EXACT [] is_a: MP:0001984 ! abnormal olfaction [Term] id: MP:0009563 name: dyskeratosis def: "premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0009564 name: abnormal meiotic configurations def: "uncharacteristic chromosome arrangement produced by anomalous chromosome pairing and chiasma formation from prophase to metaphase of meiosis I due to abnormal chromosome structure and necessary to produce functional gametes" [MGI:llw2] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0009565 name: multivalent meiotic configurations def: "any association of more than two completely or partially homologous chromosomes whose homologous regions are held together by pairing and chiasma formation from prophase to metaphase of meiosis I" [MGI:llw2] is_a: MP:0009564 ! abnormal meiotic configurations [Term] id: MP:0009566 name: meiotic nondisjunction def: "failure of homologous chromosomes to separate to the cell poles at anaphase" [MGI:llw2] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0009567 name: mitotic nondisjuction def: "failure of sister-chromatids to separate to the cell poles at anaphase" [MGI:llw2] is_a: MP:0004046 ! abnormal mitosis [Term] id: MP:0009568 name: abnormal red blood cell deformability def: "a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress" [MGI:llw2] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0009569 name: abnormal left lung morphology def: "any structural anomaly of the organ of respiration located on the left side of the body" [MGI:smb] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0009570 name: abnormal right lung morphology def: "any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes" [MGI:smb] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0009571 name: abnormal right lung accessory lobe morphology def: "any structural anomaly of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax" [ISBN:0486631850, PMID:2050021] comment: The accessory lobe is not seen in all mammalian species. It is present in rodents and is absent in human. synonym: "abnormal right lung cardiac lobe morphology" EXACT [] synonym: "abnormal right lung infracardiac lobe morphology" EXACT [] synonym: "abnormal right lung median lobe morphology" EXACT [] synonym: "abnormal right lung postcaval lobe morphology" EXACT [] is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010975 ! abnormal lung lobe morphology [Term] id: MP:0009572 name: abnormal right lung cranial lobe morphology synonym: "abnormal right lung anterior lobe morphology" EXACT [] synonym: "abnormal right lung superior lobe morphology" EXACT [] is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010975 ! abnormal lung lobe morphology [Term] id: MP:0009573 name: abnormal right lung middle lobe morphology synonym: "abnormal right lung medial lobe morphology" EXACT [] is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010975 ! abnormal lung lobe morphology [Term] id: MP:0009574 name: abnormal right lung caudal lobe morphology synonym: "abnormal right lung inferior lobe morphology" EXACT [] synonym: "abnormal right lung posterior lobe morphology" EXACT [] is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010975 ! abnormal lung lobe morphology [Term] id: MP:0009575 name: abnormal pubic symphysis morphology def: "any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments" [MGI:anna] synonym: "abnormal symphysis pubica" EXACT [] synonym: "abnormal symphysis pubis" EXACT [] is_a: MP:0004506 ! abnormal pubis morphology [Term] id: MP:0009576 name: oral atresia def: "congenital blockage, fusion, or absence of the normal opening of the oral cavity" [MGI:anna] synonym: "atresia oris" EXACT [] synonym: "congenital atresia of the mouth" EXACT [] synonym: "mouth atresia" EXACT [] synonym: "oral fusion" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology [Term] id: MP:0009577 name: abnormal developmental vascular remodeling def: "any anomaly in the process by which existing vessels are reorganized during development" [MGI:smb] is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0009578 name: otocephaly def: "a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face" [ISBN:0-683-40008-8] is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0009579 name: acephaly def: "congenital absence of the head" [ISBN:0-683-40008-8] synonym: "absence of the head" EXACT [] synonym: "absent head" EXACT [] synonym: "acephalia" EXACT [] synonym: "acephalism" EXACT [] is_a: MP:0000432 ! abnormal head morphology [Term] id: MP:0009580 name: increased keratinocyte apoptosis def: "increase in the number of keratinocytes undergoing programmed cell death" [MGI:anna] is_a: MP:0001224 ! abnormal keratinocyte apoptosis is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0009581 name: decreased keratinocyte apoptosis def: "reduction in the number of keratinocytes undergoing programmed cell death" [MGI:anna] synonym: "reduced keratinocyte apoptosis" EXACT [] is_a: MP:0001224 ! abnormal keratinocyte apoptosis is_a: MP:0006043 ! decreased apoptosis [Term] id: MP:0009582 name: abnormal keratinocyte proliferation def: "anomaly in the ability of keratinocytes to undergo expansion by cell division" [MGI:anna] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0003453 ! abnormal keratinocyte physiology [Term] id: MP:0009583 name: increased keratinocyte proliferation def: "increase in the expansion rate of keratinocytes by cell division" [MGI:anna] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0009582 ! abnormal keratinocyte proliferation [Term] id: MP:0009584 name: decreased keratinocyte proliferation def: "reduction in the expansion rate of keratinocytes by cell division" [MGI:anna] synonym: "reduced keratinocyte proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0009582 ! abnormal keratinocyte proliferation [Term] id: MP:0009585 name: ectopic bone formation def: "formation of bone at an abnormal site or in an atypical tissue, usually outside its normal location" [MGI:anna] synonym: "ectopic bone development" EXACT [] synonym: "heterotopic bone formation" EXACT [] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0009586 name: increased platelet aggregation def: "increase in the ability of one platelet to one or more other platelets via adhesion molecules" [MGI:smb] synonym: "increased blood platelet aggregation" EXACT [] synonym: "increased thrombocyte aggregation" EXACT [] is_a: MP:0009548 ! abnormal platelet aggregation [Term] id: MP:0009587 name: abnormal plasma membrane sphingolipid content def: "altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2] is_a: MP:0003950 ! abnormal plasma membrane morphology [Term] id: MP:0009588 name: increased plasma membrane sphingolipid content def: "abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2] is_a: MP:0009587 ! abnormal plasma membrane sphingolipid content [Term] id: MP:0009589 name: sphingomyelinosis def: "the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency" [MGI:llw2] synonym: "sphingolipidosis" EXACT [] synonym: "sphingolipodystrophy" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [] is_a: MP:0009587 ! abnormal plasma membrane sphingolipid content is_a: MP:0009823 ! abnormal sphingomyelin level [Term] id: MP:0009590 name: gonad tumor def: "presence of abnormal rapidly proliferating cells in the testis or ovary, usually in the form of a distinct mass" [MGI:anna] is_a: MP:0010287 ! increased reproductive system tumor incidence [Term] id: MP:0009591 name: liver adenocarcinoma def: "malignant neoplasm of epithelial cells in the liver" [MGI:anna] synonym: "hepatic adenocarcinoma" EXACT [] is_a: MP:0008019 ! increased liver tumor incidence is_a: MP:0009308 ! adenocarcinoma [Term] id: MP:0009592 name: Leydig cell tumor def: "rare testicular tumors of the male gonadal interstitium that are frequently hormonally active, leading to feminizing or virilizing syndromes; Leydig cell tumors comprise 1-3% of all testicular neoplasms, can be pure or mixed with other sex cord-stromal or germ cell tumors, and are usually benign, although malignant variants also occur" [MGI:anna] synonym: "interstitial cell tumor of testis" EXACT [] is_a: MP:0006262 ! testis tumor [Term] id: MP:0009593 name: absent chorion def: "absence of the outermost extraembryonic membrane" [MGI:anna] synonym: "absent membrana serosa" EXACT [] is_a: MP:0002836 ! abnormal chorion morphology [Term] id: MP:0009594 name: abnormal corneocyte envelope morphology def: "any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix" [MGI:anna] synonym: "abnormal cornified envelope morphology" EXACT [] synonym: "abnormal subplasmalemmal dense zone" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0009595 name: enlarged corneocyte envelope def: "increased size of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis" [MGI:anna] synonym: "enlarged cornified envelope" EXACT [] synonym: "enlarged subplasmalemmal dense zone" EXACT [] is_a: MP:0009594 ! abnormal corneocyte envelope morphology [Term] id: MP:0009596 name: abnormal stratum corneum lipid matrix formation def: "altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae" [MGI:anna] synonym: "abnormal intercorneocyte lamellar lipids" EXACT [] synonym: "abnormal intercorneocyte lipid lamellae" EXACT [] synonym: "abnormal stratum corneum extracellular lipid matrix" EXACT [] synonym: "defective epidermal lipid matrix composition" EXACT [] synonym: "epidermal lipid matrix defects" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0009597 name: impaired stratum corneum desquamation def: "dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions" [MGI:anna] synonym: "abnormal corneocyte desquamation" EXACT [] synonym: "impaired corneocyte shedding" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0009598 name: thin epidermis stratum granulosum def: "decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8] synonym: "thin epidermal granular layer" EXACT [] synonym: "thin granular layer" EXACT [] synonym: "thin stratum granulosum" EXACT [] is_a: MP:0001239 ! abnormal epidermis stratum granulosum morphology [Term] id: MP:0009599 name: thick epidermis stratum granulosum def: "increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8] synonym: "thick epidermal granular layer" EXACT [] synonym: "thick granular layer" EXACT [] synonym: "thick stratum granulosum" EXACT [] is_a: MP:0001239 ! abnormal epidermis stratum granulosum morphology [Term] id: MP:0009600 name: hypergranulosis def: "increased thickness of the granular layer of the epidermis" [ISBN:0-683-40008-8] is_a: MP:0009599 ! thick epidermis stratum granulosum [Term] id: MP:0009601 name: epidermis stratum granulosum hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells, of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8] synonym: "epidermal granular layer hyperplasia" EXACT [] synonym: "granular layer hyperplasia" EXACT [] synonym: "stratum granulosum hyperplasia" EXACT [] is_a: MP:0001239 ! abnormal epidermis stratum granulosum morphology [Term] id: MP:0009602 name: abnormal keratohyalin granule morphology def: "any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal keratohyaline granule morphology" EXACT [] is_a: MP:0001239 ! abnormal epidermis stratum granulosum morphology [Term] id: MP:0009603 name: absent keratohyalin granules def: "absence of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absent keratohyaline granules" EXACT [] is_a: MP:0009605 ! decreased keratohyalin granule number [Term] id: MP:0009604 name: increased keratohyalin granule number def: "increased size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased keratohyaline granule number" EXACT [] is_a: MP:0009602 ! abnormal keratohyalin granule morphology [Term] id: MP:0009605 name: decreased keratohyalin granule number def: "reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased keratohyaline granule number" EXACT [] synonym: "reduced keratohyalin granule number" EXACT [] synonym: "reduced keratohyaline granule number" EXACT [] is_a: MP:0009602 ! abnormal keratohyalin granule morphology [Term] id: MP:0009606 name: increased keratohyalin granule size def: "increased number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased keratohyaline granule size" EXACT [] is_a: MP:0009602 ! abnormal keratohyalin granule morphology [Term] id: MP:0009607 name: decreased keratohyalin granule size def: "reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased keratohyaline granule size" EXACT [] synonym: "reduced keratohyalin granule size" EXACT [] synonym: "reduced keratohyaline granule size" EXACT [] is_a: MP:0009602 ! abnormal keratohyalin granule morphology [Term] id: MP:0009608 name: abnormal epidermal lamellar body morphology def: "any structural anomaly of a membrane-bounded organelle present in the epidermis, specialized for the storage and secretion of various substances (such as glycoproteins and acid phosphates), and which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae" [GO:0042599] comment: The name includes epidermal to distinguish it from lung alveolar cell lamellar bodies. synonym: "abnormal keratinosome morphology" EXACT [] synonym: "abnormal lamellar body morphology" EXACT [] synonym: "abnormal lamellar granule morphology" EXACT [] synonym: "abnormal membrane-coating granule morphology" RELATED [] synonym: "abnormal Odland body morphology" EXACT [] synonym: "abnormal skin lamellar body morphology" EXACT [] is_a: MP:0001239 ! abnormal epidermis stratum granulosum morphology [Term] id: MP:0009609 name: absent basioccipital bone def: "absence of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young" [ISBN:0-683-40008-8] is_a: MP:0000079 ! abnormal basioccipital bone morphology [Term] id: MP:0009610 name: abnormal epidermis stratum lucidum morphology alt_id: MP:0005082 def: "any structural anomaly of the layer of lightly staining corneocytes foud between the stratum granulosum and stratum corneum layers; found primarily in the thick epidermis of the palmar and plantar skin and is composed of three to five layers of dead, flattened keratinocytes" [ISBN:0-683-40008-8] synonym: "abnormal clear layer morphology" EXACT [] synonym: "abnormal stratum lucidum" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0009611 name: epidermis stratum spinosum hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells, of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [ISBN:0-683-40008-8, MGI:csmith] synonym: "prickle cell layer hyperplasia" EXACT [] synonym: "spinous layer hyperplasia" EXACT [] synonym: "stratum spinosum hyperplasia" RELATED [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0009612 name: thick epidermis suprabasal layer def: "increased thickness of the suprabasal layer of the epidermis" [MGI:csmith] is_a: MP:0001233 ! abnormal epidermis suprabasal layer morphology [Term] id: MP:0009613 name: thin epidermis suprabasal layer def: "decreased thickness of the suprabasal layer of the epidermis" [MGI:csmith] is_a: MP:0001233 ! abnormal epidermis suprabasal layer morphology [Term] id: MP:0009614 name: absent epidermis stratum spinosum def: "absence of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [ISBN:0-683-40008-8] synonym: "absent prickle cell layer" EXACT [] synonym: "absent spinous layer" EXACT [] synonym: "absent stratum spinosum" EXACT [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0009615 name: abnormal zinc homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of zinc that normally is a cofactor in many proteins" [MGI:anna] is_a: MP:0005636 ! abnormal mineral homeostasis [Term] id: MP:0009616 name: abnormal brain zinc level def: "any anomaly in the amount of zinc present in mammalian brain tissue, where 5-15 percent of total zinc is concentrated in synaptic vesicles in a subset of glutamatergic neurons; histochemically reactive zinc is present in many regions of the central nervous system and is especially abundant in the hippocampus" [MGI:anna] is_a: MP:0009615 ! abnormal zinc homeostasis [Term] id: MP:0009617 name: decreased brain zinc level def: "reduction in the amount of zinc present in the brain tissue" [MGI:anna] synonym: "reduced brain zinc level" EXACT [] is_a: MP:0009616 ! abnormal brain zinc level [Term] id: MP:0009618 name: increased brain zinc level def: "increase in the amount of zinc present in the brain tissue" [MGI:anna] is_a: MP:0009616 ! abnormal brain zinc level [Term] id: MP:0009619 name: abnormal optokinetic reflex def: "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina" [MGI:smb] synonym: "abnormal OKR" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0009620 name: abnormal primary vitreous morphology def: "any structural anomaly in the fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body" [MGI:smb] is_a: MP:0001286 ! abnormal eye development is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0009621 name: primary vitreous hyperplasia def: "overdevelopment or increased size of the primary vitreous, usually due an increased number of cells" [MGI:smb] synonym: "hyperplastic primary vitreous" EXACT [] is_a: MP:0009620 ! abnormal primary vitreous morphology [Term] id: MP:0009622 name: absent inguinal lymph nodes def: "absence of the lymph nodes normally located in the groin area" [MGI:anna] is_a: MP:0002353 ! abnormal inguinal lymph node morphology [Term] id: MP:0009623 name: enlarged inguinal lymph nodes def: "increased size of the lymph nodes located in the groin area" [MGI:anna] is_a: MP:0002353 ! abnormal inguinal lymph node morphology [Term] id: MP:0009624 name: small inguinal lymph nodes def: "reduced size of the lymph nodes located in the groin area" [MGI:anna] synonym: "reduced inguinal lymph nodes" EXACT [] is_a: MP:0002353 ! abnormal inguinal lymph node morphology [Term] id: MP:0009625 name: abnormal abdominal lymph node morphology def: "any structural anomaly of the visceral glands that are located in the abdomen" [MGI:csmith] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0009626 name: abnormal celiac lymph node morphology def: "any structural anomaly of the visceral glands that are associated with the branches of the celiac artery, including the gastric, hepatic, and pancreaticolienal (splenic) lymph nodes" [MGI:csmith] is_a: MP:0009625 ! abnormal abdominal lymph node morphology [Term] id: MP:0009627 name: abnormal submandibular lymph node morphology is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0009628 name: absent brachial lymph nodes def: "absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes" [ISBN:0-683-40008-8, MGI:anna] synonym: "absent humeral axillary lymph nodes" EXACT [] is_a: MP:0005231 ! abnormal brachial lymph node morphology [Term] id: MP:0009629 name: small brachial lymph nodes def: "absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes" [ISBN:0-683-40008-8, MGI:anna] synonym: "reduced brachial lymph node size" EXACT [] synonym: "reduced humeral axillary lymph node size" EXACT [] synonym: "small humeral axillary lymph nodes" EXACT [] is_a: MP:0005231 ! abnormal brachial lymph node morphology [Term] id: MP:0009630 name: absent axillary lymph nodes def: "absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0002340 ! abnormal axillary lymph node morphology [Term] id: MP:0009631 name: enlarged axillary lymph nodes def: "increased size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region" [ISBN:0-683-40008-8, MGI:anna] synonym: "increased axillary lymph node size" EXACT [] is_a: MP:0002340 ! abnormal axillary lymph node morphology [Term] id: MP:0009632 name: small axillary lymph nodes def: "reduced size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region" [ISBN:0-683-40008-8, MGI:anna] synonym: "reduced axillary lymph node size" EXACT [] is_a: MP:0002340 ! abnormal axillary lymph node morphology [Term] id: MP:0009633 name: absent cervical lymph nodes def: "absence of the lymph nodes normally found near the neck and shoulders" [MGI:anna] is_a: MP:0002351 ! abnormal cervical lymph node morphology [Term] id: MP:0009634 name: absent popliteal lymph nodes def: "absence of the lymph nodes which drain the legs" [MGI:anna] is_a: MP:0002352 ! abnormal popliteal lymph node morphology [Term] id: MP:0009635 name: enlarged popliteal lymph nodes def: "increased size of the lymph nodes which drain the legs" [MGI:anna] synonym: "increased popliteal lymph node size" EXACT [] is_a: MP:0002352 ! abnormal popliteal lymph node morphology [Term] id: MP:0009636 name: small popliteal lymph nodes def: "reduced size of the lymph nodes which drain the legs" [MGI:anna] synonym: "decreased popliteal lymph node size" EXACT [] synonym: "reduced popliteal lymph node size" EXACT [] is_a: MP:0002352 ! abnormal popliteal lymph node morphology [Term] id: MP:0009637 name: abnormal pretectal region morphology def: "any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex" [ISBN:0-683-40008-8] synonym: "abnormal pretectal area morphology" EXACT [] synonym: "abnormal pretectum morphology" EXACT [] synonym: "abnormal PRT morphology" EXACT [] is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0009638 name: abnormal pretectal nuclei morphology def: "any structural anomaly of the groups of neurons located between the thalamus and midbrain that receive binocular sensory input from retinal ganglion cells of the eyes and are responsible for maintaining the pupillary light reflex" [MGI:llw2] is_a: MP:0009637 ! abnormal pretectal region morphology [Term] id: MP:0009639 name: abnormal olivary pretectal nucleus morphology def: "any structural anomaly of one of several pretectal nuclei with direct input from the eye and the only one containing neurons whose rate of firing is linearly related to the intensity of light falling on the retina" [MGI:llw2] is_a: MP:0009638 ! abnormal pretectal nuclei morphology [Term] id: MP:0009640 name: abnormal renal tubule epithelium morphology def: "any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces" [MGI:csmith] synonym: "abnormal kidney tubule epithelium morphology" EXACT [] xref: MA:0001681 is_a: MP:0002703 ! abnormal renal tubule morphology is_a: MP:0004967 ! abnormal kidney epithelium morphology [Term] id: MP:0009641 name: kidney degeneration def: "a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [MGI:csmith] synonym: "renal degeneration" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0009642 name: abnormal blood homeostasis alt_id: MP:0000179 alt_id: MP:0001546 def: "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal blood chemistry" EXACT [] synonym: "blood chemistry abnormalities" EXACT [] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0009643 name: abnormal urine homeostasis alt_id: MP:0001757 alt_id: MP:0005427 alt_id: MP:0005555 def: "anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal kidney excretion" BROAD [] synonym: "abnormal renal excretion" BROAD [] synonym: "abnormal urinalysis" EXACT [] synonym: "abnormal urine chemistry" EXACT [] is_a: MP:0001764 ! abnormal homeostasis is_a: MP:0005502 ! abnormal renal/urinary system physiology [Term] id: MP:0009644 name: uremia def: "an excess of urea, creatinine, and other nitrogenous end products of protein and amino acid metabolism in the blood; usually indicative of kidney dysfunction" [ISBN:0-683-40008-8] synonym: "azotemia" EXACT [] synonym: "uraemia" EXACT [] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0009645 name: crystalluria def: "excretion of crystalline material in the urine" [ISBN:0-683-40008-8] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0009646 name: urinary bladder inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the urinary bladder" [MGI:csmith] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0010386 ! abnormal urinary bladder physiology [Term] id: MP:0009647 name: decreased fertilization frequency def: "the number of secondary oocytes each penetrated by a spermatozoon followed by fusion of the male and female pronuclei are fewer than expected" [MGI:llw2] is_a: MP:0005410 ! abnormal fertilization [Term] id: MP:0009648 name: abnormal superovulation def: "altered ability of a female to be induced to ovulate an expected number of ova after treatment with specific gonadotrophic hormones" [MGI:llw2] is_a: MP:0001928 ! abnormal ovulation [Term] id: MP:0009649 name: delayed embryo implantation def: "any lag in the normal time course necessary for the attachment of the blastocyst to the endometrium" [ISBN:0198542771, MGI:llw2] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009650 name: dormant blastocysts def: "blastocysts sometimes larger than normal in size, showing no development or mitotic activity as a result of delayed implantation" [ISBN:0198542771, MGI:llw2] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009651 name: abnormal eyelid development def: "aberrant formation of the skin folds covering the front of the eyeball" [MGI:smb] is_a: MP:0001286 ! abnormal eye development is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0009652 name: abnormal palatal rugae morphology def: "any structural anomaly in the transversal ridges that develop on the secondary (hard) palate" [MGI:llw2] is_a: MP:0003756 ! abnormal hard palate morphology [Term] id: MP:0009653 name: abnormal palate development def: "abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)" [MGI:csmith] is_a: MP:0003755 ! abnormal palate morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0009654 name: abnormal primary palate development def: "any anomaly in the formation of the part of the shelf separating the oral and nasal cavities that is formed during early embryonic development from the medial nasal processes which derive from the frontonasal process; these merge with each other and with the bilateral maxillary processes to form the upper lip and the primary palate" [MGI:llw2, PMID:16942766] synonym: "abnormal primary palate primordia" RELATED [] synonym: "abnormal primitive palate morphology" EXACT [] is_a: MP:0009653 ! abnormal palate development [Term] id: MP:0009655 name: abnormal secondary palate development def: "any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue" [MGI:llw2, PMID:16942766] is_a: MP:0009653 ! abnormal palate development [Term] id: MP:0009656 name: delayed chorioallantoic fusion def: "late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna] synonym: "retarded chorioallantoic fusion" EXACT [] is_a: MP:0002824 ! abnormal chorioallantoic fusion [Term] id: MP:0009657 name: failure of chorioallantoic fusion def: "failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna] is_a: MP:0002824 ! abnormal chorioallantoic fusion [Term] id: MP:0009658 name: increased placenta apoptosis def: "increase in the number of cells of the placenta undergoing programmed cell death" [MGI:anna] synonym: "increased placental apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0010038 ! abnormal placenta physiology [Term] id: MP:0009659 name: striated fur def: "hair or fur characterized by transverse, usually parallel, markings due to an anomaly in hair color, texture, or growth" [MGI:llw2] synonym: "striped coat" EXACT [] synonym: "striped fur" EXACT [] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0009660 name: abnormal induced retinal neovascularization def: "any anomaly in the response to conditions which induce the pathological growth of vessels into the retina" [MGI:smb] is_a: MP:0008852 ! retinal neovascularization [Term] id: MP:0009661 name: abnormal pregnancy def: "any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth" [ISBN:0198542771, MGI:llw2] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0009662 name: abnormal uterine receptivity def: "any alteration in the time sensitive process of uterine differentiation that occurs in response to implantation competent blastocysts and precedes and is necessary for embryo implantation" [PMID:10882512] is_a: MP:0004014 ! abnormal uterine environment [Term] id: MP:0009663 name: abnormal uterine-embryonic axis def: "any anomaly in the process whereby the implantation chamber orients in the uterus in response to decidual growth to insure correct alignment of the embryo to the uterus" [MGI:llw2, PMID:10882512] is_a: MP:0001727 ! abnormal embryo implantation is_a: MP:0009669 ! abnormal postimplantation uterine environment [Term] id: MP:0009664 name: abnormal luminal closure def: "an anomaly in the degree to which (for each species) the uterine epithelium closes over and makes contact with, and secures an implanting blastocyst" [MGI:llw2, PMID:10882512] is_a: MP:0001727 ! abnormal embryo implantation is_a: MP:0004014 ! abnormal uterine environment [Term] id: MP:0009665 name: abnormal embryo apposition def: "any anomaly that prevents the initial positioning of the blastocyst trophoblast and uterine luminal epithelium causing the blastocyst to fail to orientate correctly along the uterine wall" [MGI:llw2, PMID:10882512] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009666 name: abnormal embryo attachment def: "any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing" [MGI:llw2, PMID:10882512] synonym: "abnormal embryo adhesion" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009667 name: abnormal embryo invasion def: "any anomaly in the process that enables the embryo to establish connection to the uterine luminal epithelium" [MGI:llw2, PMID:10882512] synonym: "abnormal embryo penetration" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009668 name: ectopic pregnancy def: "a fertilized egg attaches and begins development in a location other than in the inner lining of the uterus, most commonly in the Fallopian tube" [MGI:llw2, PMID:10882512] is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0009669 name: abnormal postimplantation uterine environment def: "failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo" [MGI:llw2, PMID:10882512] is_a: MP:0004014 ! abnormal uterine environment is_a: MP:0009671 ! abnormal uterus physiology [Term] id: MP:0009670 name: abnormal uterine angiogenesis def: "any anomaly in vascular permeability and blood vessel development that normally occurs in the uterus to support embryonic growth during pregnancy" [MGI:llw2, PMID:10882512] is_a: MP:0009669 ! abnormal postimplantation uterine environment [Term] id: MP:0009671 name: abnormal uterus physiology def: "any functional anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth" [MGI:csmith] synonym: "abnormal uterine physiology" EXACT [] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0009672 name: abnormal birth weight def: "anomaly in average weight at birth compared to controls" [RGD:cur] is_a: MP:0009701 ! abnormal birth body size [Term] id: MP:0009673 name: increased birth weight def: "increase in average weight at birth compared to controls" [RGD:cur] is_a: MP:0009672 ! abnormal birth weight is_a: MP:0009702 ! increased birth body size [Term] id: MP:0009674 name: decreased birth weight def: "reduction in average weight at birth compared to controls" [RGD:cur] synonym: "reduced birth weight" EXACT [] is_a: MP:0009672 ! abnormal birth weight is_a: MP:0009703 ! decreased birth body size [Term] id: MP:0009675 name: orthokeratosis def: "thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer" [ISBN:0-683-40008-8, MGI:csmith] synonym: "orthokeratotic hyperkeratosis" EXACT [] is_a: MP:0001242 ! hyperkeratosis [Term] id: MP:0009676 name: abnormal hemostasis def: "any anomaly in the spontaneous arrest of bleeding from vessels carrying blood under pressure or the arrest of circulation to an organ or part" [MESH:G09.188.124.560, MGI:anna] synonym: "abnormal hemostasia" EXACT [] synonym: "impaired hemostasis" EXACT [] xref: GO:0007599 is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0009677 name: abnormal spinal cord dorsal column morphology def: "any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception" [ISBN:0-683-40008-8, ISBN-10:0940780577] comment: Note that the synonym posterior column may refer to either the grey matter dorsal horn or the white matter dorsal column in the spinal cord. synonym: "abnormal dorsal funiculus morphology" EXACT [] synonym: "abnormal posterior funiculus morphology" EXACT [] synonym: "abnormal spinal cord posterior column morphology" EXACT [] xref: MA:0002749 is_a: MP:0008027 ! abnormal spinal cord white matter morphology [Term] id: MP:0009678 name: abnormal spinal cord lateral column morphology def: "any structural anomaly of the region of white matter of the spinal cord that is located between the dorsal and ventral spinal roots" [ISBN:0-683-40008-8] synonym: "abnormal anteriolateral column morphology" EXACT [] synonym: "abnormal lateral funiculus morphology" EXACT [] xref: MA:0002750 is_a: MP:0008027 ! abnormal spinal cord white matter morphology [Term] id: MP:0009679 name: abnormal spinal cord ventral column morphology def: "any structural anomaly of the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure" [ISBN:0-683-40008-8] comment: Note that the synonym anterior column may refer to either the grey matter ventral horn or the white matter ventral column in the spinal cord. synonym: "abnormal anterior funiculus morphology" RELATED [] synonym: "abnormal ventral funiculus morphology" RELATED [] xref: MA:0002751 is_a: MP:0008027 ! abnormal spinal cord white matter morphology [Term] id: MP:0009680 name: abnormal medulla oblongata anterior median fissure morphology def: "any structural anomaly of the longitudinal groove in the midline of the anterior aspect of the medulla oblongata" [ISBN:0-683-40008-8] synonym: "abnormal anteriomedian groove morphology" EXACT [] is_a: MP:0000846 ! abnormal medulla oblongata morphology [Term] id: MP:0009681 name: abnormal pyramidal decussation morphology def: "any structural anomaly of the bundles of pyramidal fibers that intercross obliquely over the midline at the lower border region of the medulla oblongata" [ISBN:0-683-40008-8] synonym: "abnormal decussation of pyramids" EXACT [] synonym: "abnormal motor decussation morphology" EXACT [] is_a: MP:0009680 ! abnormal medulla oblongata anterior median fissure morphology [Term] id: MP:0009682 name: abnormal anterior corticospinal tract morphology def: "any structural anomaly of the small bundle of corticospinal motor fibers that do not cross the midline at the pyramidal decussation and descend into the anterior funiculus of the spinal cord; the anterior corticospinal tract controls central axial and girdle muscles" [ISBN:0-683-40008-8] synonym: "abnormal anterior cerebrospinal fasciculus morphology" EXACT [] synonym: "abnormal anterior pyramidal fasciculus morphology" EXACT [] synonym: "abnormal anterior pyramidal tract morphology" EXACT [] synonym: "abnormal direct pyramidal tract morphology" EXACT [] synonym: "abnormal medial corticospinal tract morphology" EXACT [] synonym: "abnormal Turck bundle morphology" EXACT [] synonym: "abnormal Turck column morphology" EXACT [] synonym: "abnormal ventral corticospinal tract morphology" EXACT [] is_a: MP:0000778 ! abnormal nervous system tract morphology [Term] id: MP:0009683 name: abnormal lateral corticospinal tract morphology def: "any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs" [ISBN:0-683-40008-8] synonym: "abnormal crossed pyramidal tract morphology" EXACT [] synonym: "abnormal lateral cerebrospinal fasciculus morphology" EXACT [] synonym: "abnormal lateral pyramidal tract morphology" EXACT [] is_a: MP:0000778 ! abnormal nervous system tract morphology [Term] id: MP:0009684 name: abnormal spinal cord lateral motor column morphology def: "any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb" [PMID:8895454] synonym: "abnormal LMC morphology" EXACT [] xref: MA:0001129 is_a: MP:0009685 ! abnormal spinal cord motor column morphology [Term] id: MP:0009685 name: abnormal spinal cord motor column morphology def: "any structural anomaly of the subclasses of motor neurons which are organized into longitudinally oriented columns that occupy distinct and, in some cases, discontinuous domains along the rostrocaudal axis of the spinal cord; motor neurons within a single column send their axons to a common peripheral target" [PMID:8895454] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0009686 name: abnormal spinal cord medial motor column morphology def: "any structural anomaly of the subclasses of motor neurons which project their axons to axial muscles that lie close to the vertebral column; motor neurons in the lateral subdivision of the MMC project their axons to body wall muscles" [PMID:8895454] synonym: "abnormal MMC morphology" EXACT [] is_a: MP:0009685 ! abnormal spinal cord motor column morphology [Term] id: MP:0009687 name: empty decidua capsularis def: "the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells" [ISBN:0198542771, MGI:llw2] synonym: "empty decidua" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0009688 name: abnormal spinal cord central canal morphology def: "any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults" [ISBN:0-683-40008-8] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0009689 name: abnormal neural tube ventricular layer morphology def: "any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen" [MGI:csmith] synonym: "abnormal neural tube ependymal zone morphology" EXACT [] synonym: "abnormal neural tube ventricular zone morphology" RELATED [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0009690 name: abnormal neural tube mantle layer morphology def: "any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates" [MGI:csmith] synonym: "abnormal neural tube intermediate zone morphology" EXACT [] synonym: "abnormal neural tube mantle zone morphology" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0009691 name: abnormal neural tube marginal layer morphology def: "any structural anomaly of the outermost layer of the neural tube that contains nerve fibers and will form the white matter" [MGI:csmith] synonym: "abnormal neural tube marginal zone morphology" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0009692 name: abnormal spinal cord alar plate morphology def: "any structural anomaly of the region of the mantle layer of the neural tube that lies dorsal to the sulcus limitans and contains primarily sensory neurons and interneurons involved in communication of sensory impulses; the alar plate develops into the dorsal horn in the grey matter of the spinal cord" [MGI:csmith] synonym: "abnormal spinal cord alar column morphology" EXACT [] synonym: "abnormal spinal cord alar lamina morphology" EXACT [] is_a: MP:0009690 ! abnormal neural tube mantle layer morphology [Term] id: MP:0009693 name: abnormal spinal cord basal plate morphology def: "any structural anomaly of the region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons" [MGI:csmith] synonym: "abnormal spinal cord basal column morphology" EXACT [] is_a: MP:0009690 ! abnormal neural tube mantle layer morphology [Term] id: MP:0009694 name: abnormal spinal cord commissure morphology def: "any structural anomaly of any of the nerve fiber tracts that span the midline of the spinal cord" [ISBN:0-683-40008-8] is_a: MP:0000778 ! abnormal nervous system tract morphology is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0009695 name: abnormal spinal cord ventral commissure morphology def: "any structural anomaly of the band of nerve fibers which cross the midline of the spinal cord ventral to the central canal and posterior grey commissure" [ISBN:0-683-40008-8] synonym: "abnormal anterior white commissure" EXACT [] synonym: "abnormal spinal cord anterior commissure" EXACT [] synonym: "abnormal spinal cord anterior commissure morphology" EXACT [] synonym: "abnormal ventral spinal commissure morphology" EXACT [] synonym: "abnormal ventral white column morphology" EXACT [] synonym: "abnormal white commissure" RELATED [] is_a: MP:0009694 ! abnormal spinal cord commissure morphology [Term] id: MP:0009696 name: abnormal spinal cord grey commissure morphology def: "any structural anomaly of the band of grey substance spanning the midline of the spinal cord that surrounds the central canal" [ISBN:0-683-40008-8] synonym: "abnormal anterior grey commissure" RELATED [] synonym: "abnormal posterior grey commissure " NARROW [] synonym: "abnormal spinal cord gray commissure morphology" EXACT [] is_a: MP:0009694 ! abnormal spinal cord commissure morphology [Term] id: MP:0009697 name: abnormal copulation def: "an anomaly in sexual union that normally enables the transfer of ejaculate (sperm) from male to female, sometimes resulting in the fertilization of an egg" [GO:0007620, MGI:llw2] synonym: "abnormal coitus" EXACT [] is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0009698 name: heart hemorrhage def: "bleeding into the heart" [MGI:anna] synonym: "cardiac bleeding" EXACT [] synonym: "cardiac hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage [Term] id: MP:0009699 name: hyperchylomicronemia def: "increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins" [MGI:anna] synonym: "increased circulating chylomicron numbers" EXACT [] synonym: "increased plasma chylomicron levels" EXACT [] synonym: "increased serum chylomicron numbers" EXACT [] is_a: MP:0010330 ! abnormal circulating lipoprotein level [Term] id: MP:0009701 name: abnormal birth body size alt_id: MP:0009700 def: "anomaly in average body size at birth compared to controls" [MGI:anna] synonym: "abnormal birth weight/body size" EXACT [] is_a: MP:0005378 ! growth/size phenotype [Term] id: MP:0009702 name: increased birth body size def: "increase in average body size at birth compared to controls" [MGI:anna] is_a: MP:0009701 ! abnormal birth body size [Term] id: MP:0009703 name: decreased birth body size def: "reduction in average body size at birth compared to controls" [MGI:anna] synonym: "reduced birth body size" EXACT [] is_a: MP:0009701 ! abnormal birth body size [Term] id: MP:0009704 name: skin squamous cell carcinoma def: "a skin carcinoma derived from stratified squamous epithelium" [MGI:csmith] is_a: MP:0004207 ! squamous cell carcinoma is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0009705 name: abnormal midgut morphology def: "any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac" [MGI:anna] synonym: "midgut abnormalities" EXACT [] synonym: "midgut dysplasia" RELATED [] is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0009706 name: absent midgut def: "absence of the portion of the embryonic gut between the foregut and the hindgut" [MGI:anna] synonym: "missing midgut" RELATED [] is_a: MP:0009705 ! abnormal midgut morphology [Term] id: MP:0009707 name: absent external auditory canal def: "absence of the canal that connects the outer and middle ear" [MGI:anna] synonym: "absent external meatus" EXACT [] synonym: "external auditory canal atresia" EXACT [] is_a: MP:0006033 ! abnormal external auditory canal morphology [Term] id: MP:0009708 name: vaginal septum def: "a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis" [MGI:csmith, MGI:llw2] synonym: "vaginal septa" EXACT [] is_a: MP:0001144 ! vagina atresia [Term] id: MP:0009709 name: hydrometra def: "an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed" [MGI:llw2] synonym: "hydrouteri" EXACT [] synonym: "hydrouterus" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0009710 name: anhedonia def: "inability to experience pleasure in response to normally pleasurable stimuli" [MGI:smb] is_a: MP:0003360 ! abnormal depression-related behavior [Term] id: MP:0009711 name: abnormal conditioned place preference behavior def: "anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment" [ISBN:0471316393, MGI:csmith] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0009712 name: impaired conditioned place preference behavior def: "decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment" [ISBN:0471316393, MGI:csmith] is_a: MP:0009711 ! abnormal conditioned place preference behavior [Term] id: MP:0009713 name: enhanced conditioned place preference behavior def: "increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment" [ISBN:0471316393, MGI:csmith] is_a: MP:0009711 ! abnormal conditioned place preference behavior [Term] id: MP:0009714 name: thin epidermis stratum basale def: "reduced thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [ISBN:0-683-40008-8] synonym: "thin basal cell layer" EXACT [] synonym: "thin basal layer" EXACT [] synonym: "thin columnar layer" EXACT [] synonym: "thin germinative layer" EXACT [] synonym: "thin palisade layer" EXACT [] synonym: "thin stratum basale epidermis" EXACT [] synonym: "thin stratum cylindricum" EXACT [] synonym: "thin stratum germinativum" EXACT [] is_a: MP:0001231 ! abnormal epidermis stratum basale morphology [Term] id: MP:0009715 name: thick epidermis stratum basale def: "increased thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [ISBN:0-683-40008-8] synonym: "thick basal cell layer" EXACT [] synonym: "thick basal layer" EXACT [] synonym: "thick columnar layer" EXACT [] synonym: "thick germinative layer" EXACT [] synonym: "thick palisade layer" EXACT [] synonym: "thick stratum basale epidermis" EXACT [] synonym: "thick stratum cylindricum" EXACT [] synonym: "thick stratum germinativum" EXACT [] is_a: MP:0001231 ! abnormal epidermis stratum basale morphology [Term] id: MP:0009716 name: abnormal subcommissural organ morphology def: "any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin" [MESH:A08.713.810] synonym: "abnormal SCO" EXACT [] is_a: MP:0000631 ! abnormal neuroendocrine gland morphology [Term] id: MP:0009717 name: absent subcommissural organ def: "absence of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin" [MESH:A08.713.810] synonym: "absent SCO" EXACT [] is_a: MP:0009716 ! abnormal subcommissural organ morphology [Term] id: MP:0009718 name: absent Purkinje cell layer def: "there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells" [MGI:llw2] is_a: MP:0000875 ! abnormal cerebellar Purkinje cell layer [Term] id: MP:0009719 name: reduced cerebellar foliation def: "the cerebellar lobules are reduced in size or number" [MGI:llw2] synonym: "reduced cerebellum foliation" EXACT [] synonym: "reduced folia" EXACT [] is_a: MP:0000857 ! abnormal cerebellar foliation [Term] id: MP:0009720 name: abnormal mammary gland pattern def: "aberration in the number of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species" [MGI:llw2] synonym: "abnormal mammary gland number" RELATED [] is_a: MP:0000628 ! abnormal mammary gland development [Term] id: MP:0009721 name: supernumerary mammary glands def: "more than the expected number of mammary glands differentiate during early embryogenesis" [MGI:llw2] is_a: MP:0000627 ! abnormal mammary gland morphology is_a: MP:0009720 ! abnormal mammary gland pattern [Term] id: MP:0009722 name: abnormal nipple development def: "an anomaly in the differentiation of the apex of the mammary gland on the integument surface into which the lactiferous ducts open" [MGI:llw2] synonym: "abnormal papilla mammae development" EXACT [] synonym: "abnormal papilla of breast development" EXACT [] synonym: "abnormal teat development" EXACT [] synonym: "abnormal thele development" EXACT [] synonym: "abnormal thelium development" EXACT [] is_a: MP:0000628 ! abnormal mammary gland development [Term] id: MP:0009723 name: supernumerary nipples alt_id: Fyler:4234 def: "differentiation of more than the normal number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open" [MGI:llw2] subset: CvDC_Terms synonym: "supernumerary papilla mammae" EXACT [] synonym: "supernumerary papilla of breast" EXACT [] synonym: "supernumerary teat" EXACT [] synonym: "supernumerary thele" EXACT [] synonym: "supernumerary thelium" EXACT [] is_a: MP:0006078 ! abnormal nipple morphology is_a: MP:0009722 ! abnormal nipple development [Term] id: MP:0009724 name: ectopic nipples def: "abnormal location of structures normally located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open" [MGI:llw2] synonym: "ectopic papilla mammae" EXACT [] synonym: "ectopic papilla of breast" EXACT [] synonym: "ectopic teat" EXACT [] synonym: "ectopic thele" EXACT [] synonym: "ectopic thelium" EXACT [] is_a: MP:0006078 ! abnormal nipple morphology is_a: MP:0009722 ! abnormal nipple development [Term] id: MP:0009725 name: absent lens vesicle def: "absence of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye" [ISBN:0-12-402035-6, MGI:llw2] synonym: "absent lenticular vesicle" EXACT [] synonym: "failure of lens vesicle induction" RELATED [] is_a: MP:0001292 ! abnormal lens vesicle development [Term] id: MP:0009726 name: abnormal primordial meninx morphology def: "any structural anomaly of the outermost mesenchymal covering of the developing brain and spinal cord that is composed of tough fibrous connective tissue from which the arachnoid mater, pia mater and dura mater are formed" [MGI:llw2] synonym: " abnormal meninx primitiva" EXACT [] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0009727 name: abnormal navicular morphology def: "any structural anomaly of the oval-shaped tarsal bone found between the talus and the 3 cuneiform bones" [MGI:llw2] synonym: "abnormal central tarsal bone morphology" EXACT [] synonym: "abnormal centrale morphology" RELATED [] is_a: MP:0005104 ! abnormal tarsal bone morphology [Term] id: MP:0009728 name: abnormal calcaneum morphology def: "any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal calcaneal bone morphology" EXACT [] synonym: "abnormal calcaneus morphology" EXACT [] synonym: "abnormal fibular tarsal bone" EXACT [] synonym: "abnormal fibulare morphology" EXACT [] synonym: "abnormal heel bone " NARROW [] synonym: "abnormal hock bone" NARROW [] synonym: "abnormal os calcis" EXACT [] is_a: MP:0005104 ! abnormal tarsal bone morphology [Term] id: MP:0009729 name: absent tarsus bones def: "absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones" [MGI:csmith] synonym: "absent tarsal bones" EXACT [] is_a: MP:0005104 ! abnormal tarsal bone morphology [Term] id: MP:0009731 name: abnormal offspring retrieval def: "any anomaly in the ability of a female to collect stray offspring and return them to a defined location, such as a nest or den" [MGI:smb] is_a: MP:0001386 ! abnormal maternal nurturing [Term] id: MP:0009732 name: ventricular premature beat def: "a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb] synonym: "extrasystole" EXACT [] synonym: "premature ventricular complex" RELATED [] synonym: "premature ventricular contraction" EXACT [] synonym: "PVC" RELATED [] synonym: "ventricular ectopic beat" EXACT [] synonym: "ventricular premature contraction" EXACT [] synonym: "VPB" EXACT [] synonym: "VPC" EXACT [] is_a: MP:0001636 ! irregular heartbeat [Term] id: MP:0009733 name: absent nipple def: "absence of the erectile projection at the apex of the mammary gland where the lactiferous ducts open" [ISBN:0-683-40008-8] synonym: "absent papilla mammae" EXACT [] synonym: "absent papilla of breast" EXACT [] synonym: "absent teat" EXACT [] synonym: "absent thele" EXACT [] synonym: "absent thelium" EXACT [] is_a: MP:0006078 ! abnormal nipple morphology is_a: MP:0009722 ! abnormal nipple development [Term] id: MP:0009734 name: abnormal prostate gland duct morphology def: "any structural anomaly of the minute canals that pass the prostatic secretions to the urethra" [ISBN:0-683-40008-8] synonym: "abnormal prostatic duct morphology" EXACT [] xref: MA:0002785 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0009735 name: abnormal prostate gland development def: "anomaly in the formation or pattering of the of the prostate gland" [MGI:csmith] is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0009736 name: abnormal prostate gland branching morphogenesis def: "anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland" [MGI:csmith] synonym: "abnormal prostate gland ductal branching" RELATED [] is_a: MP:0009735 ! abnormal prostate gland development [Term] id: MP:0009737 name: prostate gland cysts def: "benign epithelial growths, often fluid-filled, within the gland in males that secretes part of the seminiferous fluid" [MGI:csmith] is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0009738 name: enlarged prostate gland anterior lobe def: "increased size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles" [MGI:csmith, PMID:12645922, PMID:3308446] synonym: "enlarged AP" EXACT [] synonym: "enlarged coagulating gland" EXACT [] is_a: MP:0001163 ! abnormal prostate gland anterior lobe morphology [Term] id: MP:0009739 name: enlarged prostate gland dorsolateral lobe def: "increased size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle" [MGI:csmith, PMID:12645922, PMID:3308446] synonym: "enlarged DLP" RELATED [] synonym: "enlarged dorsolateral prostate" EXACT [] is_a: MP:0009381 ! abnormal prostate gland dorsolateral lobe morphology [Term] id: MP:0009740 name: small prostate gland dorsolateral lobe def: "reduced size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle" [PMID:12645922, PMID:3308446] synonym: "small DLP" EXACT [] synonym: "small dorsolateral prostate" EXACT [] is_a: MP:0009381 ! abnormal prostate gland dorsolateral lobe morphology [Term] id: MP:0009741 name: ectopic mammary gland def: "one or more of the expected number of mammary glands that differentiate during early embryogenesis is/ are not located according to the normal arrangement" [MGI:llw2] is_a: MP:0000627 ! abnormal mammary gland morphology is_a: MP:0009720 ! abnormal mammary gland pattern [Term] id: MP:0009742 name: increased corneal stroma thickness def: "increased width of the lamellated connective tissue layer of the cornea" [MGI:llw2] is_a: MP:0005300 ! abnormal corneal stroma morphology [Term] id: MP:0009743 name: preaxial polydactyly def: "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433] is_a: MP:0000562 ! polydactyly [Term] id: MP:0009744 name: postaxial polydactyly def: "duplication of all or part of any of the rays except the first ray on one or more of the autopods" [PMID:19125433] is_a: MP:0000562 ! polydactyly [Term] id: MP:0009745 name: abnormal behavioral response to xenobiotic def: "any anomaly in the behavioral response induced by a foreign compound, such as consumption preference, induced hyperactivity or stereotypic behavior" [MGI:csmith] synonym: "abnormal behavioral response to xenobiotics" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0009746 name: enhanced behavioral response to xenobiotic def: "increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response" [MGI:csmith] synonym: "enhanced behavioral response to xenobiotics" EXACT [] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0009747 name: impaired behavioral response to xenobiotic def: "decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith] synonym: "impaired behavioral response to xenobiotics" EXACT [] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0009748 name: abnormal behavioral response to addictive substance def: "any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior" [MGI:csmith] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0009749 name: enhanced behavioral response to addictive substance def: "increased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009746 ! enhanced behavioral response to xenobiotic is_a: MP:0009748 ! abnormal behavioral response to addictive substance [Term] id: MP:0009750 name: impaired behavioral response to addictive substance def: "decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009747 ! impaired behavioral response to xenobiotic is_a: MP:0009748 ! abnormal behavioral response to addictive substance [Term] id: MP:0009751 name: enhanced behavioral response to alcohol def: "increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009749 ! enhanced behavioral response to addictive substance [Term] id: MP:0009752 name: enhanced behavioral response to nicotine def: "increased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009749 ! enhanced behavioral response to addictive substance [Term] id: MP:0009753 name: enhanced behavioral response to morphine def: "increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009749 ! enhanced behavioral response to addictive substance [Term] id: MP:0009754 name: enhanced behavioral response to cocaine def: "increased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009749 ! enhanced behavioral response to addictive substance [Term] id: MP:0009755 name: impaired behavioral response to alcohol def: "decreased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009750 ! impaired behavioral response to addictive substance [Term] id: MP:0009756 name: impaired behavioral response to nicotine def: "decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009750 ! impaired behavioral response to addictive substance [Term] id: MP:0009757 name: impaired behavioral response to morphine def: "decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009750 ! impaired behavioral response to addictive substance [Term] id: MP:0009758 name: impaired behavioral response to cocaine def: "decreased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith] is_a: MP:0009750 ! impaired behavioral response to addictive substance [Term] id: MP:0009759 name: abnormal hair follicle bulge morphology def: "any structural anomaly in the area located in the bottom of the permanent portion of a resting (telogen) hair follicle where the cells of the external root sheath of the hair follicle are contiguous with the basal layer of the epidermis; this portion of the follicle is involved in the generation of a new hair at the onset of the hair growth cycle (anagen) and contains the hair follicle stem cells" [ISBN:0-8493-8372-2, MGI:llw2, PMID:19211055] is_a: MP:0010684 ! abnormal hair follicle outer root sheath morphology [Term] id: MP:0009760 name: abnormal mitotic spindle morphology def: "any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis" [ISBN:8185198691] synonym: "abnormal mitotic spindle apparatus" EXACT [] synonym: "abnormal mitotic spindle fibers" EXACT [] is_a: MP:0004046 ! abnormal mitosis [Term] id: MP:0009761 name: abnormal meiotic spindle morphology def: "an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis" [ISBN:8185198691] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0009762 name: abnormal mitotic spindle assembly checkpoint def: "an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules" [PMID:19372138] synonym: "abnormal mitotic SAC" EXACT [] is_a: MP:0004045 ! abnormal cell cycle checkpoint function is_a: MP:0004046 ! abnormal mitosis [Term] id: MP:0009763 name: increased sensitivity to induced morbidity/mortality def: "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb] synonym: "decreased resistance to induced morbidity/mortality" EXACT [] is_a: MP:0001657 ! abnormal induced morbidity/mortality [Term] id: MP:0009764 name: decreased sensitivity to induced morbidity/mortality def: "increase in the amount of an external agent required to cause death or diseased state" [MGI:smb] synonym: "increased resistance to induced morbidity/mortality" EXACT [] is_a: MP:0001657 ! abnormal induced morbidity/mortality [Term] id: MP:0009765 name: abnormal xenobiotic induced morbidity/mortality def: "any anomaly in induction of a diseased state or death caused by a foreign compound" [MGI:smb] is_a: MP:0001657 ! abnormal induced morbidity/mortality is_a: MP:0008872 ! abnormal physiological response to xenobiotic [Term] id: MP:0009766 name: increased sensitivity to xenobiotic induced morbidity/mortality def: "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb] synonym: "decreased resistance to xenobiotic induced morbidity/mortality" EXACT [] is_a: MP:0009763 ! increased sensitivity to induced morbidity/mortality is_a: MP:0009765 ! abnormal xenobiotic induced morbidity/mortality [Term] id: MP:0009767 name: decreased sensitivity to xenobiotic induced morbidity/mortality def: "increase in the amount of a foreign compound required to cause death or diseased state" [MGI:smb] synonym: "increased resistance to xenobiotic induced morbidity/mortality" EXACT [] is_a: MP:0009764 ! decreased sensitivity to induced morbidity/mortality is_a: MP:0009765 ! abnormal xenobiotic induced morbidity/mortality [Term] id: MP:0009768 name: impaired somite development def: "atypical process of somite formation with the result of fewer or none of these cell masses being formed" [MGI:smb] is_a: MP:0001688 ! abnormal somite development [Term] id: MP:0009769 name: abnormal meiotic spindle assembly checkpoint def: "an anomaly in the process that normally prevents inaccurate segregation of chromosomes by inhibiting cell-cycle progression in response to a signal generated by meiotic spindle damage or by chromosomes that have not attached to microtubules" [PMID:18596218] is_a: MP:0001930 ! abnormal meiosis [Term] id: MP:0009770 name: abnormal optic chiasm morphology def: "any structural anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves" [MGI:llw2] synonym: "abnormal optic chiasma" EXACT [] synonym: "abnormal optic decussation" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0009771 name: absent optic chiasm def: "absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves" [MGI:llw2] synonym: "absent optic chiasma" EXACT [] synonym: "absent optic decussation" EXACT [] is_a: MP:0009770 ! abnormal optic chiasm morphology [Term] id: MP:0009772 name: abnormal retinal development def: "anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain" [MGI:llw2] synonym: "abnormal retina development" EXACT [] is_a: MP:0001286 ! abnormal eye development is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0009773 name: absent retina def: "absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain" [MGI:llw2] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0009774 name: abnormal behavioral withdrawal response def: "anomaly in the intensity, duration, or type of behaviors displayed after discontinuation of an addictive substance" [MGI:smb] is_a: MP:0009748 ! abnormal behavioral response to addictive substance [Term] id: MP:0009775 name: increased behavioral withdrawal response def: "increase in the intensity or duration of behaviors displayed after discontinuation of an addictive substance" [MGI:smb] is_a: MP:0009774 ! abnormal behavioral withdrawal response [Term] id: MP:0009776 name: decreased behavioral withdrawal response def: "decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance" [MGI:smb] is_a: MP:0009774 ! abnormal behavioral withdrawal response [Term] id: MP:0009777 name: abnormal behavioral response to anesthetic def: "anomaly in the behavioral changes that follow exposure to an anesthetizing agent" [MGI:smb] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0009778 name: impaired behavioral response to anesthetic def: "decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent" [MGI:smb] is_a: MP:0009747 ! impaired behavioral response to xenobiotic is_a: MP:0009777 ! abnormal behavioral response to anesthetic [Term] id: MP:0009779 name: enhanced behavioral response to anesthetic def: "increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent" [MGI:smb] is_a: MP:0009746 ! enhanced behavioral response to xenobiotic is_a: MP:0009777 ! abnormal behavioral response to anesthetic [Term] id: MP:0009780 name: abnormal chondrocyte physiology def: "any functional anomaly of nondividing cartilage cells" [ISBN:0-683-40008-8] is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0009781 name: abnormal preimplantation embryo development def: "an anomaly in the developmental progress of an embryo from 2 cell to blastocyst affecting the viability or number of embryos" [MGI:llw2] is_a: MP:0001672 ! abnormal embryogenesis/ development [Term] id: MP:0009782 name: abnormal basicranium angle def: "a deviation from the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull" [MGI:llw2] synonym: "abnormal cranial base angle" EXACT [] is_a: MP:0010029 ! abnormal basicranium morphology [Term] id: MP:0009783 name: abnormal melanoblast morphology def: "any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell" [CL:0000541] is_a: MP:0009845 ! abnormal neural crest cell morphology [Term] id: MP:0009784 name: abnormal melanoblast migration def: "any anomaly in the movement of the cells that originate from the neural crest and differentiate into pigment cells" [MGI:csmith] is_a: MP:0002950 ! abnormal neural crest cell migration is_a: MP:0009783 ! abnormal melanoblast morphology [Term] id: MP:0009785 name: altered susceptibility to infection induced morbidity/mortality def: "differences from the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens" [MGI:smb] synonym: "abnormal infection induced morbidity/mortality" EXACT [] synonym: "altered resistance to infection induced morbidity/mortality" RELATED [] is_a: MP:0001657 ! abnormal induced morbidity/mortality is_a: MP:0001793 ! altered susceptibility to infection [Term] id: MP:0009786 name: decreased susceptibility to infection induced morbidity/mortality def: "reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens" [MGI:smb] is_a: MP:0002409 ! decreased susceptibility to infection is_a: MP:0009785 ! altered susceptibility to infection induced morbidity/mortality [Term] id: MP:0009787 name: increased susceptibility to infection induced morbidity/mortality def: "increased likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens" [MGI:smb] is_a: MP:0002406 ! increased susceptibility to infection is_a: MP:0009785 ! altered susceptibility to infection induced morbidity/mortality [Term] id: MP:0009788 name: increased susceptibility to bacterial infection induced morbidity/mortality def: "increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria" [MGI:smb] synonym: "decreased resistance to bacterial infection induced morbidity/mortality" RELATED [] synonym: "increased bacterial infection induced morbidity/mortality" RELATED [] is_a: MP:0002412 ! increased susceptibility to bacterial infection is_a: MP:0009787 ! increased susceptibility to infection induced morbidity/mortality [Term] id: MP:0009789 name: decreased susceptibility to bacterial infection induced morbidity/mortality def: "reduced likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria" [MGI:smb] synonym: "decreased bacterial infection induced morbidity/mortality" EXACT [] synonym: "increased resistance to bacterial infection induced morbidity/mortality" EXACT [] is_a: MP:0002411 ! decreased susceptibility to bacterial infection is_a: MP:0009786 ! decreased susceptibility to infection induced morbidity/mortality [Term] id: MP:0009790 name: decreased susceptibility to viral infection induced morbidity/mortality def: "reduced likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus" [MGI:smb] synonym: "decreased viral infection induced morbidity/mortality" EXACT [] synonym: "increased resistance to viral infection induced morbidity/mortality" EXACT [] is_a: MP:0002410 ! decreased susceptibility to viral infection is_a: MP:0009786 ! decreased susceptibility to infection induced morbidity/mortality [Term] id: MP:0009791 name: increased susceptibility to viral infection induced morbidity/mortality def: "increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus" [MGI:smb] synonym: "decreased resistance to viral infection induced morbidity/mortality" EXACT [] synonym: "increased viral infection induced morbidity/mortality" EXACT [] is_a: MP:0002418 ! increased susceptibility to viral infection is_a: MP:0009787 ! increased susceptibility to infection induced morbidity/mortality [Term] id: MP:0009792 name: seborrheic dermatitis def: "an inflammatory skin condition that causes flaky, white to yellowish scales to form on oily areas such as the scalp or inside the ear, with or without reddened skin" [MGI:llw2] is_a: MP:0001194 ! dermatitis [Term] id: MP:0009793 name: sebaceous gland hypertrophy def: "increase in the bulk size of the sebum secreting glands of the hair shaft due to cell enlargement" [MGI:llw2] is_a: MP:0000652 ! enlarged sebaceous gland [Term] id: MP:0009794 name: sebaceous gland hyperplasia def: "overdevelopment and increased size of the sebum secreting glands of the hair shaft, usually due to an increase in the number of cells" [MGI:csmith] synonym: "hyperplastic sebaceous gland" EXACT [] is_a: MP:0000652 ! enlarged sebaceous gland [Term] id: MP:0009795 name: epidermal spongiosis def: "intercellular edema within the epidermis" [MGI:llw2] is_a: MP:0001786 ! skin edema [Term] id: MP:0009796 name: abnormal base-excision repair def: "any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase" [GO:0006284] synonym: "abnormal BER" EXACT [] is_a: MP:0008058 ! abnormal DNA repair [Term] id: MP:0009797 name: abnormal mismatch repair def: "any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination" [GO:0006298] synonym: "abnormal long patch mismatch repair system" EXACT [] synonym: "abnormal mismatch repair, MutL-like pathway" EXACT [] synonym: "abnormal MMR" EXACT [] is_a: MP:0008058 ! abnormal DNA repair [Term] id: MP:0009798 name: abnormal ophthalmic nerve morphology def: "any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal CN V1" EXACT [] synonym: "abnormal V1 nerve morphology" EXACT [] is_a: MP:0001065 ! abnormal trigeminal nerve morphology [Term] id: MP:0009799 name: abnormal maxillary nerve morphology def: "any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal CN V2" EXACT [] synonym: "abnormal V2 nerve morphology" RELATED [] is_a: MP:0001065 ! abnormal trigeminal nerve morphology [Term] id: MP:0009800 name: abnormal mandibular nerve morphology def: "any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal CN V3" EXACT [] synonym: "abnormal V3 nerve morphology" EXACT [] is_a: MP:0001065 ! abnormal trigeminal nerve morphology [Term] id: MP:0009801 name: abnormal hair cortex keratinization def: "any defect in the formation of the fibrous elements found in the hair cortex comprising acidic (Type I ) and basic (Type II) proteins that give hair such aspects as resilience, and elasticity" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0003811 ! abnormal hair cortex morphology [Term] id: MP:0009802 name: abnormal median aperture morphology def: "any structural anomaly in the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord" [ISBN:0-683-40008-8] synonym: "abnormal arachnoid foramen morhpology" EXACT [] synonym: "abnormal foramen of Magendie morphology" EXACT [] is_a: MP:0000828 ! abnormal fourth ventricle morphology [Term] id: MP:0009803 name: abnormal lateral aperture morphology def: "any structural anomaly of the two lateral openings of the fourth ventricle into the subarachnoid space at the cerebellopontine angle" [ISBN:0-683-40008-8] synonym: "abnormal foramen of Key-Retzius morphology" EXACT [] synonym: "abnormal foramen of Luschka morphology" EXACT [] synonym: "abnormal foramen of Retzius morphology" EXACT [] is_a: MP:0000828 ! abnormal fourth ventricle morphology [Term] id: MP:0009804 name: abnormal interventricular foramen morphology def: "any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricles" [ISBN:0-683-40008-8] synonym: "abnormal foramen of Monro morphology" RELATED [] is_a: MP:0000826 ! abnormal third ventricle morphology [Term] id: MP:0009805 name: absent median aperture def: "absence of the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord" [ISBN:0-683-40008-8] synonym: "absent arachnoid foramen" EXACT [] synonym: "absent foramen of Magendie" RELATED [] is_a: MP:0009802 ! abnormal median aperture morphology [Term] id: MP:0009806 name: abnormal otic vesicle morphology def: "any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear" [ISBN:0-683-40008-8] synonym: "abnormal acoustic vesicle morphology" EXACT [] synonym: "abnormal auditory vesicle morphology" EXACT [] synonym: "abnormal otocyst morphology" EXACT [] is_a: MP:0003938 ! abnormal ear development [Term] id: MP:0009807 name: abnormal pelvic ligament morphology def: "any structural anomaly of the dorsal sacroiliac, the sacrotuberal and/or the iliolumbar ligaments associated with the bony ring formed by the pair of hip bones fused at the symphysis and their firm articulation with the sacrum" [MGI:llw2] is_a: MP:0005504 ! abnormal ligament morphology [Term] id: MP:0009808 name: decreased oligodendrocyte number def: "reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600, MGI:llw2] synonym: "decreased oligodendroglia number" EXACT [] synonym: "decreased oligodendroglial cell number" EXACT [] synonym: "decreased oligoglia number" EXACT [] synonym: "decreased oligoglial cell number" EXACT [] synonym: "reduced oligodendrocyte number" EXACT [] synonym: "reduced oligodendroglia number" EXACT [] synonym: "reduced oligodendroglial cell number" EXACT [] synonym: "reduced oligoglia number" EXACT [] synonym: "reduced oligoglial cell number" EXACT [] is_a: MP:0000953 ! abnormal oligodendrocyte morphology [Term] id: MP:0009809 name: abnormal urine uric acid level def: "anomaly in the amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MGI:smb] synonym: "abnormal urine urate level" RELATED [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0009810 name: increased urine uric acid level def: "greater amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MGI:smb] synonym: "hyperlithuria" RELATED [] synonym: "hyperuricosuria" EXACT [] synonym: "hyperuricuria" RELATED [] synonym: "lithuria" RELATED [] synonym: "uricosuria" EXACT [] is_a: MP:0009809 ! abnormal urine uric acid level [Term] id: MP:0009811 name: abnormal prostaglandin level def: "anomaly in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation" [ISBN:0-683-40008-8] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0009812 name: abnormal bradykinin level def: "abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability" [ISBN:0-397-51047-0] is_a: MP:0008835 ! abnormal intercellular signaling peptide or protein level [Term] id: MP:0009813 name: abnormal leukotriene level def: "abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells" [ISBN:0-397-51047-0] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0009814 name: increased prostaglandin level def: "increase in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation" [ISBN:0-683-40008-8] is_a: MP:0009811 ! abnormal prostaglandin level [Term] id: MP:0009815 name: decreased prostaglandin level def: "reduction in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation" [ISBN:0-683-40008-8] synonym: "reduced prostaglandin level" EXACT [] is_a: MP:0009811 ! abnormal prostaglandin level [Term] id: MP:0009816 name: increased leukotriene level def: "increased concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells" [ISBN:0-397-51047-0] is_a: MP:0009813 ! abnormal leukotriene level [Term] id: MP:0009817 name: decreased leukotriene level def: "reduced concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells" [ISBN:0-397-51047-0] synonym: "reduced leukotriene level" EXACT [] is_a: MP:0009813 ! abnormal leukotriene level [Term] id: MP:0009818 name: abnormal thromboxane level def: "anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels" [MGI:anna] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0009819 name: abnormal circulating androgen level def: "anomaly in the blood concentration of any of the steroid hormones that control development and maintenance of masculine characteristics" [MGI:smb] synonym: "abnormal circulating androgenic hormone level" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0009820 name: abnormal liver vasculature morphology def: "any structural anomaly of the blood vessel network of the bile-secreting exocrine gland" [MGI:smb] synonym: "abnormal hepatic vasculature morphology" EXACT [] synonym: "hepatic vasculature dysplasia" EXACT [] synonym: "liver vasculature dysplasia" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0009821 name: abnormal vestibular aqueduct morphology def: "any structural anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone" [MGI:llw2] synonym: "abnormal aqueduct of Cotunnius morphology" EXACT [] synonym: "abnormal Cotunnius canal morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0009822 name: abnormal subarcuate fossa morphology def: "any structural anomaly of the irregular depression found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus" [ISBN:0-683-40008-8] synonym: "abnormal floccular fossa" EXACT [] is_a: MP:0005272 ! abnormal temporal bone morphology [Term] id: MP:0009823 name: abnormal sphingomyelin level def: "deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2] is_a: MP:0004777 ! abnormal phospholipid level [Term] id: MP:0009824 name: spermatic granuloma def: "a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium" [MGI:anna] synonym: "sperm granuloma" EXACT [] is_a: MP:0002500 ! granulomatous inflammation is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0009825 name: cornea ulcer def: "an area of tissue erosion in the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure" [MGI:smb] synonym: "corneal ulcer" EXACT [] synonym: "corneal ulceration" EXACT [] synonym: "ulceration of the cornea" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0009826 name: abnormal dermis reticular layer collagen network def: "an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin" [MGI:llw2] is_a: MP:0005081 ! abnormal dermis reticular layer morphology [Term] id: MP:0009827 name: skin detachment def: "loss of sections of skin either spontaneously or after gentle handling" [MGI:smb] synonym: "detached skin" EXACT [] synonym: "skin sloughing" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0009828 name: increased tumor latency def: "later onset of tumor occurrence than expected" [MGI:mberry] synonym: "delayed tumor appearance" EXACT [] is_a: MP:0010307 ! abnormal tumor latency [Term] id: MP:0009829 name: enlarged eye anterior chamber def: "increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens" [MESH:A09.371.060.067, MGI:mberry] is_a: MP:0005205 ! abnormal eye anterior chamber morphology [Term] id: MP:0009830 name: abnormal sperm connecting piece morphology def: "any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum" [PMID:14581499] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009831 name: abnormal sperm midpiece morphology def: "any structural anomaly of the highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece" [PMID:14581499] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009832 name: abnormal sperm mitochondrial sheath morphology def: "any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum" [PMID:14581499] is_a: MP:0009831 ! abnormal sperm midpiece morphology [Term] id: MP:0009833 name: absent sperm mitochondrial sheath def: "absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum" [PMID:14581499] synonym: "absent sperm mitochondria" EXACT [] is_a: MP:0009832 ! abnormal sperm mitochondrial sheath morphology [Term] id: MP:0009834 name: abnormal sperm annulus morphology def: "any structural anomaly of the ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity" [PMID:14581499] is_a: MP:0009831 ! abnormal sperm midpiece morphology [Term] id: MP:0009835 name: absent sperm annulus def: "absence of the ring-like, filamentous structure located at the midpiece-principal piece junction of the sperm flagellum, usually associated with a bent tail morphology" [PMID:14581499] is_a: MP:0009834 ! abnormal sperm annulus morphology [Term] id: MP:0009836 name: abnormal sperm principal piece morphology def: "any structural anomaly in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece" [PMID:14581499] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009837 name: abnormal sperm end piece morphology def: "any structural anomaly in the short remaining region of the sperm flagellum, which contains only the axoneme surrounded by the plasma membrane" [PMID:14581499] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009838 name: abnormal sperm axoneme morphology def: "any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion" [PMID:14581499] synonym: "abnormal flagellar axoneme" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009839 name: multiflagellated sperm def: "presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head" [MGI:anna] synonym: "multiple sperm flagella" EXACT [] synonym: "sperm multiflagellation" EXACT [] synonym: "supernumerary sperm flagella" EXACT [] is_a: MP:0008892 ! abnormal sperm flagellum morphology [Term] id: MP:0009840 name: abnormal foam cell morphology def: "any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow" [CL:0000891, MGI:llw2] is_a: MP:0000358 ! abnormal cell morphology [Term] id: MP:0009841 name: foam cell reticulosis def: "an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow" [MGI:llw2] synonym: "increased foam cell number" EXACT [] is_a: MP:0009840 ! abnormal foam cell morphology [Term] id: MP:0009842 name: abnormal neural crest cell proliferation def: "any anomaly in the ability of the of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult, to undergo rapid expansion by cell division" [MGI:csmith] synonym: "abnormal NCC proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0008932 ! abnormal embryonic tissue physiology [Term] id: MP:0009843 name: decreased neural crest cell number def: "reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult" [ISBN:0838580343, MGI:csmith] synonym: "reduced neural crest cell number" EXACT [] is_a: MP:0009845 ! abnormal neural crest cell morphology [Term] id: MP:0009844 name: abnormal neural crest cell apoptosis def: "change in the timing or the number of neural crest cells undergoing programmed cell death" [MGI:csmith] synonym: "abnormal NCC apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0008932 ! abnormal embryonic tissue physiology [Term] id: MP:0009845 name: abnormal neural crest cell morphology def: "any structural anomaly of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult" [ISBN:0838580343, MGI:csmith] synonym: "abnormal NCC morphology" RELATED [] is_a: MP:0009846 ! abnormal neural crest morphology [Term] id: MP:0009846 name: abnormal neural crest morphology is_a: MP:0002151 ! abnormal neural tube morphology/development [Term] id: MP:0009847 name: abnormal scrotum pigmentation def: "anomaly in the coloration of the scrotum due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:llw2] is_a: MP:0001186 ! pigmentation phenotype is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0009848 name: increased horizontal stereotypic behavior def: "increase in the frequency of repetitive rearings (greater than one per second)" [PMID:19720087] is_a: MP:0001409 ! increased stereotypic behavior [Term] id: MP:0009849 name: increased vertical stereotypic behavior def: "increase in the frequency of vertical crossings (greater than one per second)" [PMID:19720087] is_a: MP:0001409 ! increased stereotypic behavior [Term] id: MP:0009850 name: embryonic lethality between implantation and placentation def: "death anytime between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)" [MGI:llw2] is_a: MP:0008762 ! embryonic lethality [Term] id: MP:0009851 name: abnormal Sertoli cell phagocytosis def: "altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells" [MGI:anna] is_a: MP:0001932 ! abnormal spermiogenesis [Term] id: MP:0009852 name: increased Sertoli cell phagocytosis def: "enhanced phagocytic activity of testicular Sertoli cells" [MGI:anna] is_a: MP:0009851 ! abnormal Sertoli cell phagocytosis [Term] id: MP:0009853 name: decreased Sertoli cell phagocytosis def: "decreased phagocytic activity of testicular Sertoli cells" [MGI:anna] synonym: "impaired Sertoli cell phagocytosis" EXACT [] synonym: "reduced Sertoli cell phagocytosis" EXACT [] is_a: MP:0009851 ! abnormal Sertoli cell phagocytosis [Term] id: MP:0009854 name: impaired gastric peristalsis def: "an increase in the time required for solids or liquids to leave the stomach and enter the intestines" [MGI:smb] synonym: "delayed gastric emptying" EXACT [] synonym: "gastroparesis" EXACT [] is_a: MP:0011082 ! abnormal gastrointestinal motility [Term] id: MP:0009855 name: midface retrusion def: "the portion of the face comprising the nasal, maxillary, and zygomatic bones is shortened relative to the calvaria and located posterior to the normal position" [MGI:llw2] is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0009856 name: failure of ejaculation def: "inability to propulse semen from the genital ducts and the urethra to the exterior within a defined test period" [MGI:anna] synonym: "absence of ejaculation" EXACT [] synonym: "absent ejaculate" EXACT [] synonym: "failure to ejaculate" EXACT [] is_a: MP:0001378 ! abnormal ejaculation [Term] id: MP:0009857 name: absent kidney cortex def: "absence of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration" [ISBN:0-683-40008-8, MGI:anna] synonym: "absent renal cortex" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology [Term] id: MP:0009858 name: abnormal cellular extravasation alt_id: MP:0003629 def: "any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue" [GO:0045123] synonym: "abnormal extravasation" EXACT [] synonym: "abnormal immune cell cellular extravasation" EXACT [] synonym: "abnormal leukocyte transmigration" NARROW [] synonym: "abnormal lymphocyte transmigration" NARROW [] synonym: "abnormal transendothelial leukocyte migration" EXACT [] is_a: MP:0003156 ! abnormal leukocyte migration [Term] id: MP:0009859 name: eye opacity def: "changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life" [MGI:llw2] subset: Sanger_Terms synonym: "cloudy eyes" EXACT [] synonym: "eyeball opacity" EXACT [] is_a: MP:0002092 ! abnormal eye morphology created_by: csmith creation_date: 2009-11-23T12:16:37Z [Term] id: MP:0009860 name: nephrosclerosis def: "hardening of the kidney from overgrowth, infiltration by fibrous connective tissue, and contraction of the interstitial connective tissue; often a result of renovascular diseases or chronic hypertension" [ISBN:0-683-40008-8, MESH:C12.777.419.610] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2009-11-23T12:23:19Z [Term] id: MP:0009861 name: abnormal pyloric sphincter morphology def: "any structural anomaly of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach" [ISBN:0-683-40008-8] synonym: "abnormal pyloric valve morphology" EXACT [] xref: MA:0002952 is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0010785 ! abnormal stomach pyloric region morphology created_by: csmith creation_date: 2009-11-23T04:05:01Z [Term] id: MP:0009862 name: abnormal aorta elastic tissue morphology def: "any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall" [MGI:csmith] synonym: "abnormal aorta elastic lamina morphology" EXACT [] synonym: "abnormal aorta elastic laminae morphology" EXACT [] xref: MA:0002859 is_a: MP:0006083 ! abnormal blood vessel elastic tissue morphology is_a: MP:0009873 ! abnormal aorta tunica media morphology created_by: csmith creation_date: 2009-12-15T09:40:31Z [Term] id: MP:0009863 name: abnormal heart elastic tissue morphology def: "any structural anomaly of the type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers" [MGI:csmith] synonym: "abnormal cardiac elastic tissue morphology" EXACT [] xref: MA:0002858 is_a: MP:0003974 ! abnormal endocardium morphology created_by: csmith creation_date: 2009-12-15T10:00:11Z [Term] id: MP:0009864 name: abnormal aorta endothelium morphology def: "any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall" [MGI:csmith] xref: MA:0000701 is_a: MP:0009489 ! abnormal blood vessel endothelium morphology is_a: MP:0009872 ! abnormal aorta tunica intima morphology created_by: csmith creation_date: 2009-12-15T10:30:06Z [Term] id: MP:0009865 name: abnormal aorta smooth muscle morphology def: "any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta" [MGI:csmith] xref: MA:0000702 is_a: MP:0005592 ! abnormal vascular smooth muscle morphology is_a: MP:0009873 ! abnormal aorta tunica media morphology created_by: csmith creation_date: 2009-12-15T10:33:00Z [Term] id: MP:0009866 name: abnormal aorta wall morphology def: "any structural anomaly of the part of the aorta that encloses the luminal space" [MGI:csmith] xref: MA:0002901 is_a: MP:0000272 ! abnormal aorta morphology created_by: csmith creation_date: 2009-12-15T10:39:12Z [Term] id: MP:0009867 name: abnormal ascending aorta morphology alt_id: Fyler:1431 def: "any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal aorta ascendens" EXACT [] synonym: "abnormal pars ascendens aortae" EXACT [] xref: MA:0002570 is_a: MP:0010468 ! abnormal thoracic aorta morphology created_by: csmith creation_date: 2009-12-15T10:41:11Z [Term] id: MP:0009868 name: abnormal descending thoracic aorta morphology def: "any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest" [http://www.medterms.com] xref: MA:0002572 is_a: MP:0009869 ! abnormal descending aorta morphology is_a: MP:0010468 ! abnormal thoracic aorta morphology created_by: csmith creation_date: 2009-12-15T10:44:36Z [Term] id: MP:0009869 name: abnormal descending aorta morphology def: "any structural anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries" [MGI:csmith] synonym: "abnormal aorta descendens" EXACT [] synonym: "abnormal pars descendens aortae" EXACT [] xref: MA:0002571 is_a: MP:0000272 ! abnormal aorta morphology created_by: csmith creation_date: 2009-12-15T11:10:08Z [Term] id: MP:0009870 name: abnormal abdominal aorta morphology def: "any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs" [http://www.medterms.com] synonym: "abnormal aorta abdominalis" EXACT [] synonym: "abnormal pars abdominalis aortae" EXACT [] xref: MA:0000474 is_a: MP:0009869 ! abnormal descending aorta morphology created_by: csmith creation_date: 2009-12-15T11:12:21Z [Term] id: MP:0009871 name: abnormal aorta tunica adventitia morphology def: "any structural anomaly of the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers" [ISBN:0-683-40008-8] synonym: "abnormal aorta adventitia morphology" EXACT [] xref: MA:0002902 is_a: MP:0009866 ! abnormal aorta wall morphology created_by: csmith creation_date: 2009-12-15T03:34:40Z [Term] id: MP:0009872 name: abnormal aorta tunica intima morphology def: "any structural anomaly of the innermost layer of the aorta, containing the endothelium and an inner elastic membrane" [ISBN:0-683-40008-8] xref: MA:0002904 is_a: MP:0009866 ! abnormal aorta wall morphology created_by: csmith creation_date: 2009-12-15T03:36:30Z [Term] id: MP:0009873 name: abnormal aorta tunica media morphology def: "any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers" [ISBN:0-683-40008-8] xref: MA:0002903 is_a: MP:0009866 ! abnormal aorta wall morphology created_by: csmith creation_date: 2009-12-15T03:37:13Z [Term] id: MP:0009874 name: abnormal interdigital cell death def: "change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits" [MGI:llw2] synonym: "abnormal interdigital apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0006280 ! abnormal digit development created_by: csmith creation_date: 2009-12-17T01:09:39Z [Term] id: MP:0009875 name: absent interdigital cell death def: "no cells undergo programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of any digits" [MGI:llw2] synonym: "absent interdigital apoptosis" EXACT [] xref: MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator" is_a: MP:0009874 ! abnormal interdigital cell death created_by: csmith creation_date: 2009-12-17T01:11:32Z [Term] id: MP:0009876 name: increased cellular sensitivity to thiophosphamide def: "a greater frequency of chromosomal aberrations is found in cells after exposure to the alkylating agent thiophosphamide" [MGI:llw2] is_a: MP:0008402 ! increased cellular sensitivity to alkylating agents created_by: csmith creation_date: 2009-12-17T01:15:33Z [Term] id: MP:0009877 name: exostosis def: "a projection of bone, sometimes a benign tumor, that is capped by cartilage and arises from a bone that develops from cartilage" [ISBN:0-683-40008-8, MGI:llw2] synonym: "hyperostosis" EXACT [] synonym: "poroma" EXACT [] is_a: MP:0003795 ! abnormal bone structure created_by: csmith creation_date: 2009-12-17T01:19:42Z [Term] id: MP:0009878 name: decreased susceptibility to bone fracture def: "reduced probability that injury or disease will result in damaged or broken bones" [MGI:hdene] synonym: "resistance to bone fracture" EXACT [] is_a: MP:0004149 ! increased bone strength created_by: csmith creation_date: 2009-12-17T01:44:37Z [Term] id: MP:0009879 name: abnormal arcus anterior morphology def: "any structural anomaly in the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis" [ISBN:0-683-40008-8, MGI:llw2] synonym: "abnormal anterior arch morphology" EXACT [] synonym: "abnormal arcus anterior atlantis" EXACT [] is_a: MP:0004607 ! abnormal cervical atlas morphology created_by: csmith creation_date: 2009-12-17T01:52:03Z [Term] id: MP:0009880 name: microstomia def: "abnormally decreased size of the mouth" [MGI:llw2] is_a: MP:0000452 ! abnormal mouth morphology created_by: csmith creation_date: 2009-12-17T02:01:50Z [Term] id: MP:0009881 name: macrostomia def: "excessive width of the mouth" [MGI:llw2] is_a: MP:0000452 ! abnormal mouth morphology created_by: csmith creation_date: 2009-12-17T02:05:21Z [Term] id: MP:0009882 name: absent palatal shelf def: "absence of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate" [PMID:16680722] synonym: "absent palatal shelves" EXACT [] synonym: "failure of palatal shelf formation" EXACT [] is_a: MP:0009655 ! abnormal secondary palate development is_a: MP:0009890 ! cleft secondary palate created_by: csmith creation_date: 2010-01-19T02:48:14Z [Term] id: MP:0009883 name: palatal shelf hypoplasia def: "reduced size of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, often due to reduced cell number" [PMID:16680722] is_a: MP:0009655 ! abnormal secondary palate development is_a: MP:0009890 ! cleft secondary palate created_by: csmith creation_date: 2010-01-19T02:53:02Z [Term] id: MP:0009884 name: palatal shelf fusion with tongue or mandible def: "palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues" [PMID:16680722] is_a: MP:0009655 ! abnormal secondary palate development is_a: MP:0009890 ! cleft secondary palate created_by: csmith creation_date: 2010-01-19T03:16:25Z [Term] id: MP:0009885 name: abnormal palatal shelf elevation def: "any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue" [PMID:16680722] is_a: MP:0009655 ! abnormal secondary palate development is_a: MP:0009890 ! cleft secondary palate created_by: csmith creation_date: 2010-01-19T03:17:08Z [Term] id: MP:0009886 name: failure of palatal shelf elevation def: "the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue" [PMID:16680722] is_a: MP:0009885 ! abnormal palatal shelf elevation created_by: csmith creation_date: 2010-01-19T03:17:29Z [Term] id: MP:0009887 name: abnormal palatal shelf fusion at midline def: "any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages" [PMID:16942766] is_a: MP:0009655 ! abnormal secondary palate development is_a: MP:0009890 ! cleft secondary palate created_by: csmith creation_date: 2010-01-19T03:17:54Z [Term] id: MP:0009888 name: palatal shelves fail to meet at midline def: "polarized growth towards the midline following palatal shelf elevation does not occur" [PMID:16942766] is_a: MP:0009887 ! abnormal palatal shelf fusion at midline created_by: csmith creation_date: 2010-01-19T03:18:59Z [Term] id: MP:0009889 name: persistence of medial edge epithelium during palatal shelf fusion def: "palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam" [PMID:16680722] is_a: MP:0009887 ! abnormal palatal shelf fusion at midline created_by: csmith creation_date: 2010-01-19T03:35:05Z [Term] id: MP:0009890 name: cleft secondary palate def: "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722] is_a: MP:0000111 ! cleft palate created_by: csmith creation_date: 2010-01-20T11:04:45Z [Term] id: MP:0009891 name: abnormal palate bone morphology def: "any structural anomaly of the maxillary or palatine shelves that comprise the bones of the hard palate" [MGI:csmith] is_a: MP:0003756 ! abnormal hard palate morphology created_by: csmith creation_date: 2010-01-20T11:38:22Z [Term] id: MP:0009892 name: palate bone hypoplasia def: "reduced size of the maxillary or palatine shelves that comprise the bones of the hard palate, usually due to reduced cell number" [MGI:csmith] synonym: "palatial bone hypoplasia" EXACT [] is_a: MP:0009891 ! abnormal palate bone morphology created_by: csmith creation_date: 2010-01-20T02:30:11Z [Term] id: MP:0009893 name: cleft primary palate def: "congenital fissure of the tissues normally uniting to form the primary palate" [PMID:16680722] synonym: "cleft primitive palate" EXACT [] is_a: MP:0000111 ! cleft palate created_by: csmith creation_date: 2010-01-20T02:33:15Z [Term] id: MP:0009894 name: absent hard palate def: "absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult" [MGI:csmith] is_a: MP:0003756 ! abnormal hard palate morphology created_by: csmith creation_date: 2010-01-20T02:33:53Z [Term] id: MP:0009895 name: decreased palatine shelf size def: "reduced size of the bony projection of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased horizontal plate size" EXACT [] synonym: "decreased palatal process of palatine bone size" EXACT [] synonym: "decreased palatine palatal process size" EXACT [] is_a: MP:0004537 ! abnormal palatine shelf morphology created_by: csmith creation_date: 2010-01-20T02:37:15Z [Term] id: MP:0009896 name: palatine shelf hypoplasia def: "underdevelopment, usually due to a deficiency in the number of cells, of the bony projection of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith] synonym: "horizontal plate hypoplasia" EXACT [] synonym: "hypoplastic horizontal plate" EXACT [] synonym: "hypoplastic palatal process of palatine bone" EXACT [] synonym: "hypoplastic palatine palatal process" EXACT [] synonym: "palatal process of palatine bone hypoplasia" EXACT [] synonym: "palatine palatal process hypoplasia" EXACT [] is_a: MP:0009895 ! decreased palatine shelf size created_by: csmith creation_date: 2010-01-20T02:38:43Z [Term] id: MP:0009897 name: decreased maxillary shelf size def: "reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased maxillary palatal process size" EXACT [] synonym: "decreased palatal process of maxilla size" EXACT [] synonym: "decreased palatine process size" EXACT [] synonym: "reduced maxillary palatal process size" EXACT [] synonym: "reduced palatal process of maxilla size" EXACT [] synonym: "reduced palatine process size" EXACT [] is_a: MP:0004538 ! abnormal maxillary shelf morphology created_by: csmith creation_date: 2010-01-20T02:39:08Z [Term] id: MP:0009898 name: maxillary shelf hypoplasia def: "underdevelopment, usually due to a deficiency in the number of cells, of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [ISBN:0-683-40008-8, MGI:csmith] synonym: "hypoplastic maxillary palatal process" EXACT [] synonym: "hypoplastic palatal process of maxilla" EXACT [] synonym: "hypoplastic palatine process" EXACT [] synonym: "maxillary palatal process hypoplasia" EXACT [] synonym: "palatal process of maxilla hypoplasia" EXACT [] synonym: "palatine process hypoplasia" EXACT [] is_a: MP:0009897 ! decreased maxillary shelf size created_by: csmith creation_date: 2010-01-20T02:39:29Z [Term] id: MP:0009899 name: hyoid bone hypoplasia def: "underdevelopment of the hyoid bone, usually due to a deficiency in the number of cells" [MGI:csmith] synonym: "hypoplastic hyoid bone" EXACT [] synonym: "hypoplastic lingual bone" EXACT [] synonym: "lingual bone hypoplasia" EXACT [] synonym: "tongue bone hypoplasia" EXACT [] is_a: MP:0009912 ! decreased hyoid bone size created_by: csmith creation_date: 2010-01-20T02:40:12Z [Term] id: MP:0009900 name: vomer bone hypoplasia def: "underdevelopment of the vomer bone, usually due to a deficiency in the number of cells" [MGI:csmith] is_a: MP:0000098 ! abnormal vomer bone morphology created_by: csmith creation_date: 2010-01-20T02:40:44Z [Term] id: MP:0009901 name: abnormal frontonasal prominence morphology def: "any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout" [ISBN:0-683-40008-8] synonym: "abnormal forebrain process" EXACT [] synonym: "abnormal forebrain prominence" EXACT [] synonym: "abnormal frontonasal mass" EXACT [] synonym: "abnormal frontonasal process morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development created_by: csmith creation_date: 2010-01-27T09:39:03Z [Term] id: MP:0009902 name: abnormal lateral nasal prominence morphology def: "any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it" [ISBN:0-683-40008-8] synonym: "abnormal lateral nasal fold morphology" EXACT [] synonym: "abnormal lateral nasal process morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development created_by: csmith creation_date: 2010-01-27T09:44:33Z [Term] id: MP:0009903 name: abnormal medial nasal prominence morphology def: "any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8] synonym: "abnormal medial nasal fold morphology" EXACT [] synonym: "abnormal medial nasal process morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development created_by: csmith creation_date: 2010-01-27T09:49:40Z [Term] id: MP:0009904 name: tongue hypoplasia def: "underdevelopment of the tongue, usually due to a deficiency in the number of cells" [MGI:csmith] synonym: "hypoplastic tongue" EXACT [] is_a: MP:0009907 ! decreased tongue size created_by: csmith creation_date: 2010-01-27T10:06:55Z [Term] id: MP:0009905 name: absent tongue def: "absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8] is_a: MP:0000762 ! abnormal tongue morphology created_by: csmith creation_date: 2010-01-27T10:14:16Z [Term] id: MP:0009906 name: increased tongue size def: "greater size the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8] synonym: "enlarged tongue" EXACT [] synonym: "macroglossia" EXACT [] synonym: "megaglossia" EXACT [] is_a: MP:0000762 ! abnormal tongue morphology created_by: csmith creation_date: 2010-01-27T10:16:39Z [Term] id: MP:0009907 name: decreased tongue size alt_id: MP:0006255 def: "reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8] synonym: "microglossia" EXACT [] synonym: "reduced tongue size" EXACT [] synonym: "small tongue" EXACT [] is_a: MP:0000762 ! abnormal tongue morphology created_by: csmith creation_date: 2010-01-27T10:20:53Z [Term] id: MP:0009908 name: protruding tongue def: "the tongue extends out beyond the oral cavity past the lips; may be due to paralysis, oral cavity size, tongue hypoplasia or dysfunction of the hypoglossal nerve" [MGI:csmith] synonym: "tongue protrusion" EXACT [] is_a: MP:0000762 ! abnormal tongue morphology created_by: csmith creation_date: 2010-01-27T10:25:50Z [Term] id: MP:0009909 name: bifid tongue def: "tongue is divided by a midline cleft" [MGI:csmith] synonym: "cleft tongue" EXACT [] is_a: MP:0000762 ! abnormal tongue morphology created_by: csmith creation_date: 2010-01-27T10:37:39Z [Term] id: MP:0009910 name: bifurcated tongue def: "tongue is split into two halves at the anterior tip; this is normal in some animals such as reptiles" [MGI:csmith] synonym: "forked tongue" EXACT [] is_a: MP:0009909 ! bifid tongue created_by: csmith creation_date: 2010-01-27T10:51:47Z [Term] id: MP:0009911 name: increased hyoid bone size def: "greater size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [ISBN:0-683-40008-8] synonym: "enlarged hyoid bone" EXACT [] synonym: "enlarged lingual bone" EXACT [] synonym: "enlarged tongue bone" EXACT [] synonym: "increased lingual bone size" EXACT [] synonym: "increased tongue bone size" EXACT [] is_a: MP:0003056 ! abnormal hyoid bone morphology created_by: csmith creation_date: 2010-01-27T10:58:00Z [Term] id: MP:0009912 name: decreased hyoid bone size def: "reduced size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [ISBN:0-683-40008-8] synonym: "decreased lingual bone size" EXACT [] synonym: "decreased tongue bone size" EXACT [] synonym: "reduced hyoid bone size" EXACT [] synonym: "reduced lingual bone size" EXACT [] synonym: "reduced tongue bone size" EXACT [] is_a: MP:0003056 ! abnormal hyoid bone morphology created_by: csmith creation_date: 2010-01-27T10:58:49Z [Term] id: MP:0009913 name: abnormal hyoid bone greater horn morphology def: "any structural anomaly of the larger and more lateral of the paired processes on either side of the hyoid bone" [ISBN:0-683-40008-8] synonym: "abnormal hyoid bone greater cornu morphology" EXACT [] synonym: "abnormal hyoid bone superior horn morphology" EXACT [] synonym: "abnormal hyoid bone upper horn morphology" EXACT [] is_a: MP:0003056 ! abnormal hyoid bone morphology created_by: csmith creation_date: 2010-01-27T11:03:38Z [Term] id: MP:0009914 name: abnormal hyoid bone lesser horn morphology def: "any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone" [ISBN:0-683-40008-8] synonym: "abnormal hyoid bone lesser cornu morphology" EXACT [] synonym: "abnormal hyoid bone lower horn morphology" EXACT [] is_a: MP:0003056 ! abnormal hyoid bone morphology created_by: csmith creation_date: 2010-01-27T11:05:09Z [Term] id: MP:0009915 name: absent hyoid bone lesser horns def: "absence of shorter and more medial of the paired processes on either side of the hyoid bone" [ISBN:0-683-40008-8] synonym: "absent hyoid bone lesser cornu" EXACT [] synonym: "absent hyoid bone lower horns" EXACT [] is_a: MP:0009914 ! abnormal hyoid bone lesser horn morphology created_by: csmith creation_date: 2010-01-27T11:05:33Z [Term] id: MP:0009916 name: absent hyoid bone greater horns def: "absence of the larger and more lateral of the paired processes on either side of the hyoid bone" [ISBN:0-683-40008-8] synonym: "absent hyoid bone greater cornu" EXACT [] synonym: "absent hyoid bone superior horns" EXACT [] synonym: "absent hyoid bone upper horns" EXACT [] is_a: MP:0009913 ! abnormal hyoid bone greater horn morphology created_by: csmith creation_date: 2010-01-27T11:05:57Z [Term] id: MP:0009917 name: abnormal hyoid bone body morphology def: "any structural anomaly of the main curve of the hyoid bone, from which the horns extend" [ISBN:0-683-40008-8] synonym: "abnormal base of hyoid bone" EXACT [] synonym: "abnormal basihyal bone" EXACT [] synonym: "abnormal basihyoid morphology" EXACT [] synonym: "abnormal body of hyoid bone morphology" EXACT [] synonym: "abnormal corpus ossis hyoidei morphology" EXACT [] synonym: "abnormal hyoid bone base" EXACT [] is_a: MP:0003056 ! abnormal hyoid bone morphology created_by: csmith creation_date: 2010-01-27T11:09:04Z [Term] id: MP:0009918 name: abnormal stylohyoid ligament morphology def: "any structural anomaly of the fibrous cord that connects the tip of the styloid process of the temporal bone to the lesser horn of the hyoid bone" [ISBN:0-683-40008-8] synonym: "abnormal epihyoid ligament morphology" EXACT [] is_a: MP:0005504 ! abnormal ligament morphology created_by: csmith creation_date: 2010-01-27T11:26:33Z [Term] id: MP:0009919 name: abnormal transitional stage T1 B cell morphology def: "any structural anomaly of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative" [PMID:12810111] synonym: "abnormal T1 stage B cell morphology" EXACT [] synonym: "abnormal transitional one stage B lymphocyte morphology" EXACT [] synonym: "abnormal transitional one stage B-cell morphology" EXACT [] synonym: "abnormal transitional one stage B-lymphocyte morphology" EXACT [] xref: CL:0000958 is_a: MP:0008188 ! abnormal transitional stage B cell morphology created_by: csmith creation_date: 2010-01-27T01:10:38Z [Term] id: MP:0009920 name: abnormal transitional stage T2 B cell morphology def: "any structural anomaly of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" [PMID:12810111] synonym: "abnormal T2 stage B cell morphology" EXACT [] synonym: "abnormal transitional two stage B lymphocyte morphology" EXACT [] synonym: "abnormal transitional two stage B-cell morphology" EXACT [] synonym: "abnormal transitional two stage B-lymphocyte morphology" EXACT [] xref: CL:0000959 is_a: MP:0008188 ! abnormal transitional stage B cell morphology created_by: csmith creation_date: 2010-01-27T01:11:25Z [Term] id: MP:0009921 name: abnormal transitional stage T3 B cell morphology def: "any structural anomaly of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive" [PMID:12810111] synonym: "abnormal T3 stage B cell morphology" EXACT [] synonym: "abnormal transitional three stage B lymphocyte morphology" EXACT [] synonym: "abnormal transitional three stage B-cell morphology" EXACT [] synonym: "abnormal transitional three stage B-lymphocyte morphology" EXACT [] xref: CL:0000960 is_a: MP:0008188 ! abnormal transitional stage B cell morphology created_by: csmith creation_date: 2010-01-27T01:11:40Z [Term] id: MP:0009922 name: increased transitional stage T1 B cell number def: "greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative" [PMID:12810111] synonym: "increased T1 stage B cell number" EXACT [] synonym: "increased transitional one stage B lymphocyte number" EXACT [] synonym: "increased transitional one stage B-cell number" EXACT [] synonym: "increased transitional one stage B-lymphocyte number" EXACT [] xref: CL:0000958 is_a: MP:0008189 ! increased transitional stage B cell number is_a: MP:0009919 ! abnormal transitional stage T1 B cell morphology created_by: csmith creation_date: 2010-01-27T01:12:21Z [Term] id: MP:0009923 name: decreased transitional stage T1 B cell number def: "reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative" [PMID:12810111] synonym: "decreased T1 stage B cell number" EXACT [] synonym: "decreased transitional one stage B lymphocyte number" EXACT [] synonym: "decreased transitional one stage B-cell number" EXACT [] synonym: "decreased transitional one stage B-lymphocyte number" EXACT [] synonym: "reduced T1 stage B cell number" EXACT [] synonym: "reduced transitional one stage B lymphocyte number" EXACT [] synonym: "reduced transitional one stage B-cell number" EXACT [] synonym: "reduced transitional one stage B-lymphocyte number" EXACT [] xref: CL:0000958 is_a: MP:0008190 ! decreased transitional stage B cell number is_a: MP:0009919 ! abnormal transitional stage T1 B cell morphology created_by: csmith creation_date: 2010-01-27T01:12:48Z [Term] id: MP:0009924 name: absent transitional stage T1 B cells def: "absence of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative" [PMID:12810111] synonym: "absent T1 stage B cells" EXACT [] synonym: "absent transitional one stage B lymphocytes" EXACT [] synonym: "absent transitional one stage B-cells" EXACT [] synonym: "absent transitional one stage B-lymphocytes" EXACT [] xref: CL:0000958 is_a: MP:0008216 ! absent transitional stage B cells is_a: MP:0009923 ! decreased transitional stage T1 B cell number created_by: csmith creation_date: 2010-01-27T01:13:06Z [Term] id: MP:0009925 name: increased transitional stage T2 B cell number def: "greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" [PMID:12810111] synonym: "increased T2 stage B cell number" EXACT [] synonym: "increased transitional two stage B lymphocyte number" EXACT [] synonym: "increased transitional two stage B-cell number" EXACT [] synonym: "increased transitional two stage B-lymphocyte number" EXACT [] xref: CL:0000959 is_a: MP:0008189 ! increased transitional stage B cell number is_a: MP:0009920 ! abnormal transitional stage T2 B cell morphology created_by: csmith creation_date: 2010-01-27T01:13:49Z [Term] id: MP:0009926 name: decreased transitional stage T2 B cell number def: "reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" [PMID:12810111] synonym: "decreased T2 stage B cell number" EXACT [] synonym: "decreased transitional two stage B lymphocyte number" EXACT [] synonym: "decreased transitional two stage B-cell number" EXACT [] synonym: "decreased transitional two stage B-lymphocyte number" EXACT [] synonym: "reduced T2 stage B cell number" EXACT [] synonym: "reduced transitional two stage B lymphocyte number" EXACT [] synonym: "reduced transitional two stage B-cell number" EXACT [] synonym: "reduced transitional two stage B-lymphocyte number" EXACT [] xref: CL:0000959 is_a: MP:0008190 ! decreased transitional stage B cell number is_a: MP:0009920 ! abnormal transitional stage T2 B cell morphology created_by: csmith creation_date: 2010-01-27T01:14:05Z [Term] id: MP:0009927 name: absent transitional stage T2 B cells def: "absence of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" [PMID:12810111] synonym: "absent T2 stage B cells" EXACT [] synonym: "absent transitional two stage B lymphocytes" EXACT [] synonym: "absent transitional two stage B-cells" EXACT [] synonym: "absent transitional two stage B-lymphocytes" EXACT [] xref: CL:0000959 is_a: MP:0008216 ! absent transitional stage B cells is_a: MP:0009926 ! decreased transitional stage T2 B cell number created_by: csmith creation_date: 2010-01-27T01:14:20Z [Term] id: MP:0009928 name: abnormal pinna hair pigmentation def: "amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased or increased in hair located behind the ears when compared to control animal pigmentation" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation created_by: csmith creation_date: 2010-01-27T01:56:11Z [Term] id: MP:0009929 name: meningomyelocele alt_id: Fyler:4309 def: "hernial protrusion of the spinal cord and its meninges through an opening or defect in the vertebral column" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "meningocoele" EXACT [] synonym: "meningomyelocoele" EXACT [] synonym: "myelocystomeningocele" EXACT [] synonym: "myelocystomeningocoele" EXACT [] synonym: "myelomeningocele" EXACT [] synonym: "myelomeningocoele" EXACT [] is_a: MP:0003054 ! spina bifida is_a: MP:0004703 ! abnormal vertebral column morphology created_by: csmith creation_date: 2010-01-27T01:58:56Z [Term] id: MP:0009930 name: fuzzy hair def: "covered with upright, fine, sometimes lightly curled hair" [MGI:llw2] subset: Sanger_Terms synonym: "fine hair" EXACT [] is_a: MP:0002074 ! abnormal hair texture created_by: csmith creation_date: 2010-01-27T03:00:03Z [Term] id: MP:0009931 name: abnormal skin appearance def: "anomaly in the visual aspect of the skin" [MGI:llw2] subset: Europhenome_Terms subset: Sanger_Terms is_a: MP:0002060 ! abnormal skin morphology created_by: csmith creation_date: 2010-01-27T03:14:23Z [Term] id: MP:0009932 name: skin fibrosis def: "invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury" [MGI:anna] synonym: "cutaneous fibrosis" EXACT [] is_a: MP:0002060 ! abnormal skin morphology created_by: csmith creation_date: 2010-01-27T03:41:34Z [Term] id: MP:0009933 name: abnormal tail hair pigmentation def: "an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation created_by: csmith creation_date: 2010-01-27T03:44:35Z [Term] id: MP:0009934 name: abnormal hind foot hair pigmentation def: "an anomaly in the expected color gradient of hair covering the metatarsals and phalanges often differentially expressed in females and males" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation created_by: csmith creation_date: 2010-01-27T03:45:24Z [Term] id: MP:0009935 name: abnormal meibomian gland acinus morphology def: "any structural anomaly of the sac-like structures comprising the sebaceous glands located at the rim of the eyelids and responsible for producing sebum" [MGI:mnk] synonym: "abnormal meibomian gland acini" EXACT [] is_a: MP:0005252 ! abnormal meibomian gland morphology created_by: csmith creation_date: 2010-01-27T03:57:53Z [Term] id: MP:0009936 name: abnormal dendritic spine morphology def: "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2] is_a: MP:0008143 ! abnormal dendrite morphology created_by: csmith creation_date: 2010-01-27T04:00:49Z [Term] id: MP:0009937 name: abnormal neuron differentiation alt_id: MP:0006008 def: "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith] comment: The definition of the previous ID MP:0006008 [abnormal neurogenesis] specified only the growth or development of neurons; this is not the accepted definition of neurogenesis in GO:0022008 or most dictionary resources; these include all cells of the nervous system including glia. A new term of abnormal neuron differentiation was created that matched the definition and MP:0006008 [abnormal neurogenesis] has been merged into it. synonym: "abnormal neuronal differentiation" RELATED [] is_a: MP:0002882 ! abnormal neuron morphology is_a: MP:0003861 ! abnormal nervous system development is_a: MP:0005076 ! abnormal cell differentiation created_by: csmith creation_date: 2010-02-02T01:43:56Z [Term] id: MP:0009938 name: abnormal hippocampus granule cell morphology def: "any structural anomaly of the small neurons of the hippocampal granule cell layer" [MGI:csmith] synonym: "abnormal hippocampal granule cell morphology" EXACT [] synonym: "abnormal hippocampus granule neuron morphology" EXACT [] xref: CL:0001033 is_a: MP:0008285 ! abnormal hippocampus granule cell layer is_a: MP:0009939 ! abnormal hippocampus neuron morphology created_by: csmith creation_date: 2010-02-02T02:23:28Z [Term] id: MP:0009939 name: abnormal hippocampus neuron morphology synonym: "abnormal hippocampal neuron morphology" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology is_a: MP:0002882 ! abnormal neuron morphology created_by: csmith creation_date: 2010-02-02T02:50:11Z [Term] id: MP:0009940 name: abnormal hippocampus pyramidal cell morphology def: "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith] synonym: "abnormal hippocampus projection neuron morphology" EXACT [] synonym: "abnormal hippocampus pyramidal neuron morphology" EXACT [] is_a: MP:0008284 ! abnormal hippocampus pyramidal cell layer is_a: MP:0009939 ! abnormal hippocampus neuron morphology created_by: csmith creation_date: 2010-02-02T02:52:01Z [Term] id: MP:0009941 name: abnormal olfactory bulb interneuron morphology def: "any structural anomaly of the group of neurons residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons" [PMID:18603310] is_a: MP:0000819 ! abnormal olfactory bulb morphology is_a: MP:0000965 ! abnormal sensory neuron morphology created_by: csmith creation_date: 2010-02-02T03:44:21Z [Term] id: MP:0009942 name: abnormal olfactory bulb granule cell morphology def: "any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses" [NLX:nifext_123] synonym: "abnormal olfactory granule neuron morphology" EXACT [] xref: CL:0000626 xref: NLX:nifext_123 "NeuroLex.org" is_a: MP:0009941 ! abnormal olfactory bulb interneuron morphology is_a: MP:0009949 ! abnormal olfactory bulb granule cell layer morphology created_by: csmith creation_date: 2010-02-02T03:49:07Z [Term] id: MP:0009943 name: abnormal olfactory bulb periglomerular cell morphology def: "any structural anomaly of the small neuron in the glomerular layer of the olfactory bulb whose dendrites arborize within a glomerulus, where it receives synaptic input from olfactory receptor cell axon terminals, and also engages in dendrodendritic interactions with mitral and tufted cell dendrites; uses both GABA and dopamine as a neurotransmitter" [NLX:nlx_cell_091202] synonym: "abnormal olfactory bulb periglomerular neuron morphology" EXACT [] xref: NLX:nlx_cell_091202 "NeuroLex.org" is_a: MP:0009941 ! abnormal olfactory bulb interneuron morphology is_a: MP:0009948 ! abnormal olfactory bulb glomerular layer morphology created_by: csmith creation_date: 2010-02-02T03:49:38Z [Term] id: MP:0009944 name: abnormal olfactory lobe morphology xref: MA:0002413 is_a: MP:0000787 ! abnormal telencephalon morphology created_by: csmith creation_date: 2010-02-04T11:26:33Z [Term] id: MP:0009945 name: abnormal accessory olfactory bulb morphology def: "any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus" [MGI:csmith] xref: MA:0000966 is_a: MP:0009944 ! abnormal olfactory lobe morphology created_by: csmith creation_date: 2010-02-04T11:31:49Z [Term] id: MP:0009946 name: abnormal olfactory bulb layer morphology def: "any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal olfactory bulb lamina morphology" EXACT [] is_a: MP:0000819 ! abnormal olfactory bulb morphology created_by: csmith creation_date: 2010-02-04T11:33:51Z [Term] id: MP:0009947 name: abnormal olfactory bulb external plexiform layer morphology def: "any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs" [NLX:nlx_96] synonym: "abnormal olfactory bulb EPL morphology" EXACT [] xref: MA:0000969 xref: NLX:nlx_96 "NeuroLex.org" is_a: MP:0009946 ! abnormal olfactory bulb layer morphology created_by: csmith creation_date: 2010-02-04T11:34:28Z [Term] id: MP:0009948 name: abnormal olfactory bulb glomerular layer morphology xref: MA:0000970 is_a: MP:0009946 ! abnormal olfactory bulb layer morphology created_by: csmith creation_date: 2010-02-04T11:35:31Z [Term] id: MP:0009949 name: abnormal olfactory bulb granule cell layer morphology synonym: "abnormal olfactory bulb GC layer morphology" EXACT [] xref: MA:0000971 is_a: MP:0009946 ! abnormal olfactory bulb layer morphology created_by: csmith creation_date: 2010-02-04T11:36:16Z [Term] id: MP:0009950 name: abnormal olfactory bulb internal plexiform layer morphology synonym: "abnormal olfactory bulb IPL morphology" EXACT [] xref: MA:0000972 is_a: MP:0009946 ! abnormal olfactory bulb layer morphology created_by: csmith creation_date: 2010-02-04T11:36:51Z [Term] id: MP:0009951 name: abnormal olfactory bulb mitral cell layer morphology synonym: "abnormal olfactory bulb MC layer morphology" EXACT [] xref: MA:0000973 is_a: MP:0009946 ! abnormal olfactory bulb layer morphology created_by: csmith creation_date: 2010-02-04T11:37:46Z [Term] id: MP:0009952 name: abnormal olfactory bulb subventricular zone morphology def: "any structural anomaly of the region of mitotically active layer of cells surrounding the lateral brain ventricles that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells, that produce neurons that migrate to the olfactory bulb" [MGI:csmith] synonym: "abnormal olfactory bulb SEZ morphology" EXACT [] synonym: "abnormal olfactory bulb subependymal layer" EXACT [] synonym: "abnormal olfactory bulb subependymal plate" EXACT [] synonym: "abnormal olfactory bulb subependymal zone morphology" EXACT [] synonym: "abnormal olfactory bulb SVZ morphology" EXACT [] xref: MA:0000974 is_a: MP:0000819 ! abnormal olfactory bulb morphology is_a: MP:0004275 ! abnormal postnatal subventricular zone morphology created_by: csmith creation_date: 2010-02-04T11:38:44Z [Term] id: MP:0009953 name: abnormal olfactory tubercle morphology def: "any structural anomaly of the region in the ventral telencephalon, prominent in rodents, but present in all mammals, consisting of a laminated cortical part and the cap/hilus region; it is traditionally viewed as part of the olfactory cortex but recognized by some as having a striatal character; according to many authors, the structure of the OT transitions from cortical like to striatal like along the lateral medial axis" [MGI:csmith, NLX:Maryann_Martone] comment: This structure does not exist in primates. xref: MA:0000976 is_a: MP:0005267 ! abnormal olfactory cortex morphology created_by: csmith creation_date: 2010-02-04T12:23:33Z [Term] id: MP:0009954 name: abnormal mitral cell morphology def: "any structural anomaly of the large glutaminergic nerve cells whose dendrites synapse with axons of the olfactory receptor neurons in the glomerular layer of the olfactory bulb, and whose axons pass centrally in the olfactory tract to the olfactory cortex" [ISBN:0-683-40008-8] synonym: "abnormal mitral neuron morphology" EXACT [] is_a: MP:0009951 ! abnormal olfactory bulb mitral cell layer morphology created_by: csmith creation_date: 2010-02-04T12:52:28Z [Term] id: MP:0009955 name: abnormal olfactory bulb tufted cell morphology def: "any structural anomaly of the principal glutaminergic neuron located in the outer third of the external plexiform layer of the olfactory bulb; a single short primary dendrite traverses the outer external plexiform layer and terminates within an olfactory glomerulus in a tuft of branches, where it receives the input from olfactory receptor neuron axon terminals; axons of the tufted cells transfer information to a number of areas in the brain, including the piriform cortex, entorhinal cortex, olfactory tubercle, and amygdala" [NLX:nifext_121] xref: NLX:nifext_121 "NeuroLex.org" is_a: MP:0009947 ! abnormal olfactory bulb external plexiform layer morphology created_by: csmith creation_date: 2010-02-04T01:46:53Z [Term] id: MP:0009956 name: abnormal cerebellar layer morphology def: "any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum" [MGI:csmith] xref: MA:0000201 is_a: MP:0004097 ! abnormal cerebellar cortex morphology created_by: csmith creation_date: 2010-02-04T02:19:31Z [Term] id: MP:0009957 name: abnormal cerebellum vermis lobule morphology def: "any structural anomaly of the region of a cerebellar lobule that resides in the central section of the cerebellum between the two hemispheres; in humans, vermis lobule regions may be nearly continuous with the cerebellar hemisphere lobules dorsally but are separated by deeper longitudinal fissues in the ventral regions; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres" [MGI:csmith, PMID:17506688] is_a: MP:0000864 ! abnormal cerebellum vermis morphology is_a: MP:0009964 ! abnormal cerebellum lobule morphology created_by: csmith creation_date: 2010-02-04T02:41:16Z [Term] id: MP:0009958 name: absent cerebellar granule cells def: "absence of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [ISBN:0838580343] synonym: "absent cerebellar granule neurons" EXACT [] is_a: MP:0008924 ! decreased cerebellar granule cell number created_by: csmith creation_date: 2010-02-04T04:10:40Z [Term] id: MP:0009959 name: abnormal cerebellar hemisphere morphology def: "any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis" [MGI:csmith] xref: MA:0000200 is_a: MP:0004097 ! abnormal cerebellar cortex morphology created_by: csmith creation_date: 2010-02-05T10:13:02Z [Term] id: MP:0009960 name: abnormal cerebellum anterior lobe morphology def: "any structural anomaly of the region of the cerebellum that is anterior to the primary fissure" [ISBN:0838580343] synonym: "abnormal cerebellum rostral lobe morphology" EXACT [] synonym: "abnormal paleocerebellum morphology" EXACT [] xref: MA:0000991 is_a: MP:0004097 ! abnormal cerebellar cortex morphology created_by: csmith creation_date: 2010-02-05T10:14:07Z [Term] id: MP:0009961 name: abnormal flocculonodular lobe morphology def: "any structural anomaly of the small region of the cerebellum that is posterior to the posteriolateral fissure in humans; it receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance" [http:www.spiritus-temporis.com/cerebellum/anatomy.html, ISBN:0838580343] synonym: "abnormal archicerebellum morphology" EXACT [] synonym: "abnormal vestibulocerebellum morphology" EXACT [] is_a: MP:0004097 ! abnormal cerebellar cortex morphology created_by: csmith creation_date: 2010-02-05T10:15:15Z [Term] id: MP:0009962 name: abnormal cerebellum posterior lobe morphology def: "any structural anomaly of the region of the cerebellum that is posterior to the primary fissure and anterior to the posteriolateral fissure" [ISBN:0838580343] synonym: "abnormal cerebellum caudal lobe morphology" EXACT [] synonym: "abnormal neocerebellum morphology" EXACT [] is_a: MP:0004097 ! abnormal cerebellar cortex morphology created_by: csmith creation_date: 2010-02-05T10:16:51Z [Term] id: MP:0009963 name: abnormal cerebellum hemisphere lobule morphology def: "any structural anomaly of the region of a cerebellar lobule that resides in either of the lateral sections of the cerebellum outside the vermis; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres; distinct species specific differences in hemisphere lobulation occurs among mammals, with greatest complexity in primates" [MGI:csmith, PMID:17506688, PMID:19693030] is_a: MP:0009959 ! abnormal cerebellar hemisphere morphology is_a: MP:0009964 ! abnormal cerebellum lobule morphology created_by: csmith creation_date: 2010-02-05T10:32:12Z [Term] id: MP:0009964 name: abnormal cerebellum lobule morphology def: "any structural anomaly of the ten gyri of the cerebellar cortex" [ISBN:0-683-40008-8] synonym: "abnormal cerebellar folia morphology" EXACT [] synonym: "abnormal cerebellar gyri morphology" EXACT [] is_a: MP:0004097 ! abnormal cerebellar cortex morphology created_by: csmith creation_date: 2010-02-05T12:37:36Z [Term] id: MP:0009965 name: abnormal cerebellum lateral hemisphere morphology def: "any structural anomaly of the most lateral paired regions of the cerebellum; the lateral zone receives input from the parietal cortex via pontocerebellar mossy fibers regarding the location and position of the body and integrates input signals with indications of muscle activity" [http://www.spiritus-temporis.com/cerebellum/anatomy.html, ISBN:0838580343] synonym: "abnormal cerebellum lateral zone morphology" EXACT [] synonym: "abnormal cerebrocerebellum morphology" EXACT [] is_a: MP:0009959 ! abnormal cerebellar hemisphere morphology created_by: csmith creation_date: 2010-02-05T12:40:36Z [Term] id: MP:0009966 name: abnormal cerebellum intermediate hemisphere morphology def: "any structural anomaly of the paired regions of the cerebellar hemisphere that lie adjacent to the vermis and are between the vermis and lateral regions of the hemispheres; it receives input from the corticopontocerebellar fibers that originate from the motor cortex, and also receives sensory feedback from the muscles; these signals are integrated by this region, to coordinate muscle activity with motor inputs" [http://www.spiritus-temporis.com/cerebellum/anatomy.html, ISBN:0838580343] synonym: "abnormal cerebellum paravermis morphology" RELATED [] synonym: "abnormal paravermal cortical zone moprhology" EXACT [] synonym: "abnormal spinocerebellum morphology intermediate part" EXACT [] is_a: MP:0009959 ! abnormal cerebellar hemisphere morphology created_by: csmith creation_date: 2010-02-05T12:41:17Z [Term] id: MP:0009967 name: abnormal neuron proliferation def: "any anomaly in the ability of a neuron to undergo rapid expansion by cell division" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0004811 ! abnormal neuron physiology created_by: csmith creation_date: 2010-02-08T11:08:37Z [Term] id: MP:0009968 name: abnormal cerebellar granule cell proliferation def: "any anomaly in the ability of a cerebellar granule cell population to undergo rapid expansion by cell division" [MGI:csmith] is_a: MP:0009967 ! abnormal neuron proliferation created_by: csmith creation_date: 2010-02-08T11:08:57Z [Term] id: MP:0009969 name: abnormal cerebral cortex pyramidal cell morphology def: "any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8] synonym: "abnormal cerebral cortex projection neuron morphology" EXACT [] synonym: "abnormal cerebral cortex pyramidal neuron morphology" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0002882 ! abnormal neuron morphology created_by: csmith creation_date: 2010-02-08T01:32:27Z [Term] id: MP:0009970 name: increased hippocampus pyramidal cell number def: "increased number of the projection neurons in the pyramidal layer of the hippocampus" [MGI:csmith] synonym: "increased hippocampus projection neuron cell number" EXACT [] synonym: "increased hippocampus pyramidal neuron cell number" EXACT [] is_a: MP:0008947 ! increased neuron number is_a: MP:0009940 ! abnormal hippocampus pyramidal cell morphology created_by: csmith creation_date: 2010-02-08T01:54:08Z [Term] id: MP:0009971 name: decreased hippocampus pyramidal cell number def: "decreased number of the projection neurons in the pyramidal layer of the hippocampus" [MGI:csmith] synonym: "decreased hippocampus projection neuron cell number" EXACT [] synonym: "decreased hippocampus pyramidal neuron cell number" EXACT [] synonym: "reduced hippocampus projection neuron cell number" EXACT [] synonym: "reduced hippocampus pyramidal neuron cell number" EXACT [] is_a: MP:0008948 ! decreased neuron number is_a: MP:0009940 ! abnormal hippocampus pyramidal cell morphology created_by: csmith creation_date: 2010-02-08T01:54:38Z [Term] id: MP:0009972 name: absent hippocampus pyramidal cells def: "absence of the projection neurons in the pyramidal layer of the hippocampus" [MGI:csmith] synonym: "absent hippocampus projection neuron cells" EXACT [] synonym: "absent hippocampus pyramidal neuron cells" EXACT [] is_a: MP:0009971 ! decreased hippocampus pyramidal cell number created_by: csmith creation_date: 2010-02-08T01:55:00Z [Term] id: MP:0009973 name: increased cerebral cortex pyramidal cell number def: "increased number of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8] synonym: "increased cerebral cortex projection neuron cell number" EXACT [] synonym: "increased cerebral cortex pyramidal neuron cell number" EXACT [] is_a: MP:0008947 ! increased neuron number is_a: MP:0009969 ! abnormal cerebral cortex pyramidal cell morphology created_by: csmith creation_date: 2010-02-08T01:55:26Z [Term] id: MP:0009974 name: decreased cerebral cortex pyramidal cell number def: "reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8] synonym: "decreased cerebral cortex projection neuron cell number" EXACT [] synonym: "decreased cerebral cortex pyramidal neuron cell number" EXACT [] synonym: "reduced cerebral cortex projection neuron cell number" EXACT [] synonym: "reduced cerebral cortex pyramidal neuron cell number" EXACT [] is_a: MP:0008948 ! decreased neuron number is_a: MP:0009969 ! abnormal cerebral cortex pyramidal cell morphology created_by: csmith creation_date: 2010-02-08T01:55:54Z [Term] id: MP:0009975 name: absent cerebral cortex pyramidal cells def: "increased number of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8] synonym: "absent cerebral cortex projection neuron cells" EXACT [] synonym: "absent cerebral cortex pyramidal neuron cells" EXACT [] is_a: MP:0009974 ! decreased cerebral cortex pyramidal cell number created_by: csmith creation_date: 2010-02-08T01:56:17Z [Term] id: MP:0009976 name: abnormal cerebellar peduncle morphology def: "any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem" [MGI:csmith] xref: MA:0002742 is_a: MP:0009978 ! abnormal cerebellum white matter morphology created_by: csmith creation_date: 2010-02-08T03:41:55Z [Term] id: MP:0009977 name: abnormal cerebellar granule cell migration def: "any anomaly in the movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum during development of the cerebellar cortex" [MGI:csmith] is_a: MP:0006009 ! abnormal neuronal migration created_by: csmith creation_date: 2010-02-08T04:16:50Z [Term] id: MP:0009978 name: abnormal cerebellum white matter morphology xref: MA:0002430 is_a: MP:0000849 ! abnormal cerebellum morphology is_a: MP:0008026 ! abnormal brain white matter morphology created_by: csmith creation_date: 2010-02-11T09:46:07Z [Term] id: MP:0009979 name: abnormal cerebellum deep nucleus morphology def: "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html] synonym: "abnormal cerebellum deep nuclei morphology" EXACT [] xref: MA:0000203 is_a: MP:0000849 ! abnormal cerebellum morphology created_by: csmith creation_date: 2010-02-11T09:46:40Z [Term] id: MP:0009980 name: abnormal cerebellum dentate nucleus morphology def: "any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers" [ISBN:0-683-40008-8] synonym: "abnormal cerebellum lateral nucleus morphology" EXACT [] synonym: "abnormal corpus dentatum morphology" EXACT [] synonym: "abnormal dentate cerebellar nucleus morphology" EXACT [] synonym: "abnormal lateral cerebellar nucleus morphology" EXACT [] xref: MA:0001008 is_a: MP:0009979 ! abnormal cerebellum deep nucleus morphology created_by: csmith creation_date: 2010-02-11T10:27:56Z [Term] id: MP:0009981 name: abnormal cerebellum emboliform nucleus morphology def: "any structural anomaly of the small wedge shaped nucleus interposed between the dentate and fastigial nuclei; it receives axons from Purkinje cells of the intermediate area of the cerebral hemispheres and most of its efferent connections travel via the superior cerebellar peduncle" [ISBN:0-683-40008-8] synonym: "abnormal anterior interposed nucleus morphology" EXACT [] synonym: "abnormal anterior interpositus nucleus morphology" EXACT [] synonym: "abnormal embolus morphologoy" EXACT [] is_a: MP:0009984 ! abnormal cerebellum interpositus nucleus morphology created_by: csmith creation_date: 2010-02-11T10:29:00Z [Term] id: MP:0009982 name: abnormal cerebellum globose nucleus morphology def: "any structural anomaly of the two or three small masses of gray matter that is located medial to the emboliform nucleus and lateral to the fastigial nucleus; it receives axons from the intermediate area of the cerebellar hemispheres and its afferents exit through the superior cerebellar peduncle; it is recognized in human cerebellum but is not distinguishable in all mammalian species" [ISBN:0-683-40008-8] synonym: "abnormal posterior interposed nucleus morphology" EXACT [] synonym: "abnormal posterior interpositus nucleus morphology" EXACT [] is_a: MP:0009984 ! abnormal cerebellum interpositus nucleus morphology created_by: csmith creation_date: 2010-02-11T10:29:35Z [Term] id: MP:0009983 name: abnormal cerebellum fastigial nucleus morphology def: "any structural anomaly of the most medial of the cerebellar nuclei; it receives its afferent input from Purkinje cells of the flocculonodular lobe and the vermis, and most of its efferent connections travel via the inferior cerebellar peduncle to the vestibular nuclei and to the medullary reticular formation" [ISBN:0-683-40008-8] synonym: "abnormal cerebellum roof nucleus morphology" EXACT [] synonym: "abnormal cerebellum tectal nucleus morphology" EXACT [] synonym: "abnormal medial cerebellar nucleus morphology" EXACT [] xref: MA:0001009 is_a: MP:0009979 ! abnormal cerebellum deep nucleus morphology created_by: csmith creation_date: 2010-02-11T10:30:15Z [Term] id: MP:0009984 name: abnormal cerebellum interpositus nucleus morphology def: "any structural anomaly of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable" [ISBN:0-683-40008-8] synonym: "abnormal cerebellum interposed nucleus morphology" EXACT [] is_a: MP:0009979 ! abnormal cerebellum deep nucleus morphology created_by: csmith creation_date: 2010-02-11T11:51:12Z [Term] id: MP:0009985 name: abnormal inferior cerebellar peduncle morphology def: "any structural anomaly of the paired cerebellar peduncles that connects the medulla spinalis and medulla oblongata with the cerebellum, and is composed of juxtarestiform body and restiform body; it carries many types of input and output fibers that are mainly concerned with integrating proprioceptive sensory input with motor vestibular functions such as balance and posture maintenance" [ISBN:0-683-40008-8] is_a: MP:0009976 ! abnormal cerebellar peduncle morphology created_by: csmith creation_date: 2010-02-11T12:50:42Z [Term] id: MP:0009986 name: abnormal middle cerebellar peduncle morphology def: "any structural anomaly of the largest of the three paired cerebellar peduncles; it is composed mainly of afferent fibers that originate within the pontine nuclei as part of the massive corticopontocerebellar tract, whose fibers descend from the sensory and motor areas of the cerebral neocortex, through the pons and into the cerebellar nuclei and cortex" [ISBN:0-683-40008-8] is_a: MP:0009976 ! abnormal cerebellar peduncle morphology created_by: csmith creation_date: 2010-02-11T12:50:42Z [Term] id: MP:0009987 name: abnormal superior cerebellar peduncle morphology def: "any structural anomaly of the major output pathway of the cerebellum; most of the efferent fibers originate within the cerebellum dentate nucleus and cerebellum interpositus nuclei, which in turn project to various midbrain structures including the red nucleus, the ventral lateral/ventral anterior nucleus of the thalamus, and the medulla; most of the fibers that pass through this peduncle are involved in pathways important in motor planning" [ISBN:0-683-40008-8] is_a: MP:0009976 ! abnormal cerebellar peduncle morphology created_by: csmith creation_date: 2010-02-11T12:50:42Z [Term] id: MP:0009988 name: abnormal cerebellum vermis lobule I morphology synonym: "abnormal ungula lobule morphology" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009989 name: abnormal cerebellum vermis lobule II morphology comment: The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents. synonym: "abnormal central lobule morphology anterior part" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009990 name: abnormal cerebellum vermis lobule III morphology comment: The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents. synonym: "abnormal central lobule morphology posterior part" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009991 name: abnormal cerebellum vermis lobule IV morphology comment: The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID: 1953602). synonym: "abnormal culmen lobule morphology anterior part" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009992 name: abnormal cerebellum vermis lobule IX morphology synonym: "abnormal uvula lobule morphology" EXACT [] synonym: "abnormal vermal uvula morphology" EXACT [] is_a: MP:0000869 ! abnormal cerebellum posterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009993 name: abnormal cerebellum vermis lobule V morphology comment: The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID: 1953602). synonym: "abnormal culmen lobule morphology posterior part" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009994 name: abnormal cerebellum vermis lobule VI morphology synonym: "abnormal declive lobule morphology" EXACT [] is_a: MP:0000869 ! abnormal cerebellum posterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009995 name: abnormal cerebellum vermis lobule VII morphology comment: In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. synonym: "abnormal folium lobule morphology" NARROW [] synonym: "abnormal tuber lobule morphology" NARROW [] is_a: MP:0000869 ! abnormal cerebellum posterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009996 name: abnormal cerebellum vermis lobule VIII morphology synonym: " abnormal pyramis of cerebellum morphology" EXACT [] synonym: "abnormal cerebellar pyramid morphology" EXACT [] synonym: "abnormal pyramid of vermis morphology" EXACT [] synonym: "abnormal vermal pyramis morphology" EXACT [] is_a: MP:0000869 ! abnormal cerebellum posterior vermis morphology is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009997 name: abnormal cerebellum vermis lobule X morphology synonym: "abnormal nodulus lobule morphology" EXACT [] is_a: MP:0009957 ! abnormal cerebellum vermis lobule morphology is_a: MP:0009961 ! abnormal flocculonodular lobe morphology created_by: csmith creation_date: 2010-02-11T02:23:06Z [Term] id: MP:0009998 name: abnormal cerebellum vermis lobule VIIa morphology comment: In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. synonym: "abnormal folium lobule morphology" EXACT [] synonym: "abnormal folium of vermis morphology" EXACT [] synonym: "abnormal folium vermis morphology" EXACT [] is_a: MP:0009995 ! abnormal cerebellum vermis lobule VII morphology created_by: csmith creation_date: 2010-02-12T11:14:53Z [Term] id: MP:0009999 name: abnormal cerebellum vermis lobule VIIb morphology comment: In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. synonym: "abnormal tuber dorsale morphology" EXACT [] synonym: "abnormal tuber lobule morphology" EXACT [] synonym: "abnormal tuber of vermis morphology" EXACT [] synonym: "abnormal tuber valvulae morphology" EXACT [] synonym: "abnormal tuber vermis morphology" EXACT [] is_a: MP:0009995 ! abnormal cerebellum vermis lobule VII morphology created_by: csmith creation_date: 2010-02-12T11:16:00Z [Term] id: MP:0010000 name: abnormal copula pyramidis morphology comment: This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. synonym: "abnormal COP morphology" EXACT [] is_a: MP:0009963 ! abnormal cerebellum hemisphere lobule morphology created_by: csmith creation_date: 2010-02-12T11:19:18Z [Term] id: MP:0010001 name: abnormal ansiform lobule morphology comment: This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. is_a: MP:0009963 ! abnormal cerebellum hemisphere lobule morphology created_by: csmith creation_date: 2010-02-12T11:20:47Z [Term] id: MP:0010002 name: abnormal ansiform lobule crus I morphology comment: This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. is_a: MP:0010001 ! abnormal ansiform lobule morphology created_by: csmith creation_date: 2010-02-12T11:21:16Z [Term] id: MP:0010003 name: abnormal ansiform lobule crus II morphology comment: This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. is_a: MP:0010001 ! abnormal ansiform lobule morphology created_by: csmith creation_date: 2010-02-12T11:21:38Z [Term] id: MP:0010004 name: abnormal paramedian lobule morphology comment: This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. synonym: "abnormal paramedial lobule morphology" EXACT [] synonym: "abormal PML morphology" EXACT [] is_a: MP:0009963 ! abnormal cerebellum hemisphere lobule morphology created_by: csmith creation_date: 2010-02-12T11:22:59Z [Term] id: MP:0010005 name: abnormal lobule simplex morphology comment: This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. synonym: "abnormal LS morphology" EXACT [] synonym: "abnormal simple lobule morphology" EXACT [] is_a: MP:0009963 ! abnormal cerebellum hemisphere lobule morphology created_by: csmith creation_date: 2010-02-12T11:24:12Z [Term] id: MP:0010006 name: abnormal flocculus morphology def: "any structural anomaly of the small region of the cerebellum that receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance" [ISBN:0838580343, MGI:csmith] comment: This is a structure present in both rodents and humans, but the location and morphology is dramatically different between these species. is_a: MP:0009959 ! abnormal cerebellar hemisphere morphology created_by: csmith creation_date: 2010-02-12T11:28:41Z [Term] id: MP:0010007 name: abnormal paraflocculus morphology comment: This is a structure present in both rodents and humans, but the location and morphology is dramatically different between these species. is_a: MP:0009959 ! abnormal cerebellar hemisphere morphology created_by: csmith creation_date: 2010-02-12T11:29:15Z [Term] id: MP:0010008 name: abnormal Purkinje cell migration def: "any anomaly in the movement of immature Purkinje cells from the ventricular zone of the fourth ventricle to the forming Purkinje cell layer during development of the cerebellar cortex" [MGI:csmith] synonym: "abnormal Purkinje neuron migration" EXACT [] is_a: MP:0006009 ! abnormal neuronal migration created_by: csmith creation_date: 2010-02-15T11:34:30Z [Term] id: MP:0010009 name: abnormal piriform cortex morphology def: "any structural anomaly of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract; it is located bilaterally in the ventrolateral forebrain and is commonly divided into anterior and posterior regions" [PMID:17714095] synonym: "abnormal lateral olfactory gyrus morphology" RELATED [] synonym: "abnormal piriform area morphology" EXACT [] synonym: "abnormal primary olfactory cortex morphology" EXACT [] synonym: "abnormal pyriform cortex morphology" EXACT [] xref: MA:0000978 is_a: MP:0005267 ! abnormal olfactory cortex morphology created_by: csmith creation_date: 2010-02-16T12:49:07Z [Term] id: MP:0010010 name: abnormal islands of Calleja morphology def: "any structural anomaly of the seven small groups of granule cells in the polymorph layer of the olfactory tubercle and one large group, the insula magna, which lies along the border between septum, nucleus accumbens and nucleus of the diagonal band" [PMID:80412] comment: The islands of Calleja are located within the olfactory tubercle in most species; however, in primates these islands are located within the nucleus accumbens, since the olfactory tubercle is absent or extremely rudimentary in the brains of primates. We have currently placed this term as a child of both abnormal nucleus accumbens morphology and abnormal olfactory tubercle morphology but we may need to reconsider this placement. xref: MA:0000977 is_a: MP:0004080 ! abnormal nucleus accumbens morphology is_a: MP:0009953 ! abnormal olfactory tubercle morphology created_by: csmith creation_date: 2010-02-16T02:00:17Z [Term] id: MP:0010011 name: ectopic hippocampus pyramidal cells def: "the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus" [MGI:csmith] synonym: "ectopic hippocampus pyramidal neurons" EXACT [] is_a: MP:0009940 ! abnormal hippocampus pyramidal cell morphology created_by: csmith creation_date: 2010-02-16T02:38:08Z [Term] id: MP:0010012 name: ectopic cerebral cortex pyramidal cells def: "the cerebral cortex pyramidal cell body resides in places other than the pyramidal cell layer of the cerebral cortex" [MGI:csmith] synonym: "ectopic cerebral cortex pyramidal neurons" EXACT [] is_a: MP:0009969 ! abnormal cerebral cortex pyramidal cell morphology created_by: csmith creation_date: 2010-02-16T02:39:06Z [Term] id: MP:0010013 name: cerebral cortex pyramidal cell degeneration def: "a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the cerebral cortex" [MGI:csmith] synonym: "cerebral cortex pyramidal neuron degeneration" EXACT [] is_a: MP:0009969 ! abnormal cerebral cortex pyramidal cell morphology created_by: csmith creation_date: 2010-02-16T02:45:00Z [Term] id: MP:0010014 name: hippocampus pyramidal cell degeneration def: "a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith] synonym: "hippocampal pyramidal cell degeneration" EXACT [] synonym: "hippocampus pyramidal neuron degeneration" EXACT [] is_a: MP:0009940 ! abnormal hippocampus pyramidal cell morphology created_by: csmith creation_date: 2010-02-16T02:46:16Z [Term] id: MP:0010015 name: abnormal cuticular plate morphology def: "any structural anomaly of the firm laminar network of actin filaments in the organ of Corti to which the apical ends of the cochlear hair cells attach and through which their stereocilia project" [PMID:12324381] is_a: MP:0000042 ! abnormal organ of Corti morphology created_by: csmith creation_date: 2010-02-16T04:25:17Z [Term] id: MP:0010016 name: variable depigmentation alt_id: MP:0002198 def: "absence or loss of normal pigment in the skin in various and irregular patterns" [MGI:llw2] synonym: "vitiligo" EXACT [] synonym: "white skin spotting" EXACT [] is_a: MP:0002095 ! abnormal skin pigmentation created_by: csmith creation_date: 2010-02-17T03:11:22Z [Term] id: MP:0010017 name: visceral vascular congestion def: "obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs" [MGI:anna] is_a: MP:0000255 ! vasculature congestion created_by: csmith creation_date: 2010-02-17T03:19:25Z [Term] id: MP:0010018 name: pulmonary vascular congestion alt_id: MP:0010888 def: "obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema" [MGI:anna, MGI:csmith] synonym: "congested lung vasculature" EXACT [] synonym: "lung vascular congestion" EXACT [] synonym: "pulmonary congestion" EXACT [] synonym: "PVC" EXACT [] is_a: MP:0004007 ! abnormal lung vasculature morphology is_a: MP:0010017 ! visceral vascular congestion created_by: csmith creation_date: 2010-02-17T03:20:42Z [Term] id: MP:0010019 name: liver vascular congestion def: "obstruction of the normal flux of blood within the blood vessel network of the liver" [MGI:anna] synonym: "congested liver vasculature" EXACT [] synonym: "hepatic vascular congestion" EXACT [] is_a: MP:0009820 ! abnormal liver vasculature morphology is_a: MP:0010017 ! visceral vascular congestion created_by: csmith creation_date: 2010-02-17T03:22:02Z [Term] id: MP:0010020 name: spleen vascular congestion def: "obstruction of the normal flux of blood within the blood vessel network of the spleen" [MGI:anna] synonym: "congested spleen vasculature" EXACT [] synonym: "splenic vascular congestion" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology is_a: MP:0010017 ! visceral vascular congestion created_by: csmith creation_date: 2010-02-17T03:28:26Z [Term] id: MP:0010021 name: heart vascular congestion def: "obstruction of the normal flux of blood within the blood vessel network of the heart" [MGI:anna] synonym: "cardiac vascular congestion" EXACT [] synonym: "congested vasculature of the heart" EXACT [] synonym: "heart congestion" EXACT [] is_a: MP:0000266 ! abnormal heart morphology is_a: MP:0010017 ! visceral vascular congestion created_by: csmith creation_date: 2010-02-17T03:30:24Z [Term] id: MP:0010022 name: brain vascular congestion def: "obstruction of the normal flux of blood within the blood vessel network of the brain" [MGI:anna] synonym: "congested brain vasculature" EXACT [] is_a: MP:0000255 ! vasculature congestion is_a: MP:0004950 ! abnormal brain vasculature morphology created_by: csmith creation_date: 2010-02-17T03:36:18Z [Term] id: MP:0010023 name: cerebral vascular congestion def: "obstruction of the normal flux of blood within the blood vessel network of the cerebrum" [MGI:csmith] is_a: MP:0008540 ! abnormal cerebrum morphology is_a: MP:0010022 ! brain vascular congestion created_by: csmith creation_date: 2010-02-17T03:53:44Z [Term] id: MP:0010024 name: increased total body fat amount alt_id: MP:0005453 def: "greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "increased adipose tissue amount" EXACT [] synonym: "increased adiposity" EXACT [] synonym: "increased body fat" RELATED [] synonym: "increased total body adipose tissue amount" EXACT [] is_a: MP:0005452 ! abnormal adipose tissue amount created_by: csmith creation_date: 2010-02-22T12:58:49Z [Term] id: MP:0010025 name: decreased total body fat amount alt_id: MP:0005454 def: "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith] subset: Europhenome_Terms subset: Sanger_Terms synonym: "decreased adipose tissue amount" EXACT [] synonym: "decreased adiposity" EXACT [] synonym: "decreased body fat" RELATED [] synonym: "decreased total adipose tissue amount" EXACT [] synonym: "reduced adipose tissue amount" EXACT [] synonym: "reduced total adipose tissue amount" EXACT [] synonym: "reduced total body fat amount" EXACT [] is_a: MP:0005452 ! abnormal adipose tissue amount created_by: csmith creation_date: 2010-02-22T01:41:16Z [Term] id: MP:0010026 name: decreased liver cholesterol level def: "less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] synonym: "decreased hepatic cholesterol level" EXACT [] synonym: "reduced hepatic cholesterol level" RELATED [] synonym: "reduced liver cholesterol level" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0003983 ! decreased cholesterol level created_by: csmith creation_date: 2010-02-24T03:00:30Z [Term] id: MP:0010027 name: increased liver cholesterol level def: "greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] synonym: "increased hepatic cholesterol level" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0003982 ! increased cholesterol level created_by: csmith creation_date: 2010-02-24T03:00:50Z [Term] id: MP:0010028 name: aciduria def: "excretion of an acid urine" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2010-02-24T03:07:00Z [Term] id: MP:0010029 name: abnormal basicranium morphology alt_id: MP:0005273 def: "any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones" [ISBN:0-683-40008-8] synonym: "abnormal base of skull morphology" EXACT [] synonym: "abnormal basis cranii morphology" EXACT [] synonym: "abnormal cranial base morphology" EXACT [] synonym: "basicranium dysplasia" EXACT [] synonym: "cranial base dysplasia" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology created_by: csmith creation_date: 2010-03-01T01:05:40Z [Term] id: MP:0010030 name: abnormal orbit morphology alt_id: MP:0005246 def: "any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones" [ISBN:0-683-40008-8] comment: In human, the orbit is comprised of parts of seven cranial bones (frontal, maxillary, sphenoid, lacrimal, zygomatic, ethmoidal and palatine). In mouse, the orbit is comprised of parts of eight cranial bones (maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, and palatine). synonym: "abnormal eye socket morphology" EXACT [] synonym: "abnormal orbit" EXACT [] synonym: "orbit abnormalities" EXACT [] xref: MA:0002482 is_a: MP:0000438 ! abnormal cranium morphology is_a: MP:0002092 ! abnormal eye morphology created_by: csmith creation_date: 2010-03-01T01:21:37Z [Term] id: MP:0010031 name: abnormal cranium size def: "deviation from the average range of cranium size compared to normal" [MGI:csmith] synonym: "abnormal skull size" RELATED [] is_a: MP:0000438 ! abnormal cranium morphology created_by: csmith creation_date: 2010-03-01T01:35:41Z [Term] id: MP:0010032 name: meiotic drive def: "preferential production of gametes during meiosis (germ cell production), which alters the segregation of genes from the Mendelian expectations; meiotic drive is a mechanism for transmission distortion" [MGI:csmith] is_a: MP:0001930 ! abnormal meiosis created_by: csmith creation_date: 2010-03-01T03:23:56Z [Term] id: MP:0010033 name: paraphimosis def: "inability of the penis to retract back into the prepuce/foreskin; entrapment of a retracted foreskin behind the coronal sulcus" [MGI:mberry] is_a: MP:0005187 ! abnormal penis morphology created_by: csmith creation_date: 2010-03-02T03:34:34Z [Term] id: MP:0010034 name: abnormal erythrocyte clearance def: "any anomaly in the selective elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life" [GO:0034102, MGI:csmith] is_a: MP:0003656 ! abnormal erythrocyte physiology created_by: csmith creation_date: 2010-03-02T03:44:19Z [Term] id: MP:0010035 name: increased erythrocyte clearance def: "increased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life" [GO:0034102, MGI:csmith] is_a: MP:0010034 ! abnormal erythrocyte clearance created_by: csmith creation_date: 2010-03-02T03:51:36Z [Term] id: MP:0010036 name: decreased erythrocyte clearance def: "decreased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life" [GO:0034102, MGI:csmith] synonym: "reduced erythrocyte clearance" EXACT [] is_a: MP:0010034 ! abnormal erythrocyte clearance created_by: csmith creation_date: 2010-03-02T03:52:09Z [Term] id: MP:0010037 name: ectopic melanocytes def: "pigment producing cells are not located in the normal or expected position" [MGI:csmith] is_a: MP:0002877 ! abnormal melanocyte morphology created_by: csmith creation_date: 2010-03-03T10:09:29Z [Term] id: MP:0010038 name: abnormal placenta physiology def: "any functional anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin" [MGI:csmith] is_a: MP:0004264 ! abnormal extraembryonic tissue physiology created_by: csmith creation_date: 2010-03-03T10:33:47Z [Term] id: MP:0010039 name: abnormal trophoblast giant cell proliferation def: "abnormality in the expansion rate of the trophoblast giant cell population by cell division" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0010038 ! abnormal placenta physiology created_by: csmith creation_date: 2010-03-03T10:37:42Z [Term] id: MP:0010040 name: abnormal oval cell morphology def: "any structural anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes" [PMID:16237666] synonym: "abnormal adult liver progenitor cell morphology" EXACT [] synonym: "abnormal hepatic oval cell morphology" EXACT [] synonym: "abnormal LPC morphology" EXACT [] xref: CL:1000036 is_a: MP:0002138 ! abnormal hepatobiliary system morphology created_by: csmith creation_date: 2010-03-03T10:47:13Z [Term] id: MP:0010041 name: absent oval cells def: "absence of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes" [PMID:16237666] synonym: "aabsent LPCs" EXACT [] synonym: "absent adult liver progenitor cells" EXACT [] synonym: "absent hepatic oval cells" EXACT [] xref: CL:1000036 is_a: MP:0010040 ! abnormal oval cell morphology created_by: csmith creation_date: 2010-03-03T10:57:11Z [Term] id: MP:0010042 name: abnormal oval cell physiology def: "any functional anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes" [PMID:16237666] synonym: "abnormal adult liver progenitor cell physiology" EXACT [] synonym: "abnormal hepatic oval cell physiology" EXACT [] synonym: "abnormal LPC physiology" EXACT [] xref: CL:1000036 is_a: MP:0000609 ! abnormal liver physiology created_by: csmith creation_date: 2010-03-03T11:01:11Z [Term] id: MP:0010043 name: abnormal frontonasal suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones" [ISBN:0-683-40008-8] is_a: MP:0002835 ! abnormal cranial suture morphology created_by: csmith creation_date: 2010-03-03T11:44:24Z [Term] id: MP:0010044 name: abnormal omental fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon" [ISBN:0-683-40008-8] synonym: "abnormal omental fat depot morphology" EXACT [] is_a: MP:0000010 ! abnormal abdominal fat pad morphology created_by: csmith creation_date: 2010-03-03T11:58:15Z [Term] id: MP:0010045 name: increased omental fat pad weight def: "greater than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon" [ISBN:0-683-40008-8] synonym: "increased omental fat depot weight" EXACT [] is_a: MP:0010044 ! abnormal omental fat pad morphology created_by: csmith creation_date: 2010-03-03T12:04:27Z [Term] id: MP:0010046 name: decreased omental fat pad weight def: "less than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon" [ISBN:0-683-40008-8] synonym: "decreased omental fat depot weight" EXACT [] synonym: "reduced omental fat depot weight" EXACT [] is_a: MP:0010044 ! abnormal omental fat pad morphology created_by: csmith creation_date: 2010-03-03T12:04:44Z [Term] id: MP:0010047 name: axonal spheroids def: "focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions" [PMID:15644421] is_a: MP:0005405 ! axon degeneration created_by: csmith creation_date: 2010-03-03T12:26:56Z [Term] id: MP:0010048 name: abnormal primitive steak regression def: "any anomaly in the process by which the primitive streak disappears during gastrulation, when the node moves back to a posterior position" [MGI:csmith] is_a: MP:0002231 ! abnormal primitive streak morphology created_by: csmith creation_date: 2010-03-03T12:44:07Z [Term] id: MP:0010050 name: hypermyelination def: "increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath" [MGI:csmith] synonym: "increased myelination" EXACT [] is_a: MP:0000920 ! abnormal myelination created_by: csmith creation_date: 2010-03-03T01:21:00Z [Term] id: MP:0010052 name: increased grip strength def: "greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393] subset: Sanger_Terms is_a: MP:0001515 ! abnormal grip strength created_by: csmith creation_date: 2010-03-03T01:33:45Z [Term] id: MP:0010053 name: decreased grip strength def: "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393] subset: Sanger_Terms synonym: "reduced grip strength" EXACT [] is_a: MP:0001515 ! abnormal grip strength created_by: csmith creation_date: 2010-03-03T01:34:19Z [Term] id: MP:0010054 name: hepatoblastoma def: "a malignant neoplasm occurring primarily in the liver and composed of tissue resembling embryonic or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues" [MGI:anna] synonym: "hepatic blastoma" EXACT [] synonym: "liver blastoma" EXACT [] is_a: MP:0008019 ! increased liver tumor incidence is_a: MP:0008021 ! blastoma created_by: csmith creation_date: 2010-03-03T03:22:41Z [Term] id: MP:0010055 name: abnormal sensory neuron physiology def: "any functional anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses" [ISBN:0-683-40008-8] is_a: MP:0004811 ! abnormal neuron physiology is_a: MP:0005423 ! abnormal somatic nervous system physiology created_by: csmith creation_date: 2010-03-03T04:06:33Z [Term] id: MP:0010056 name: ectopic skeletal muscle def: "skeletal muscle is located in a position not normally occupied by this tissue type" [MGI:csmith] synonym: "heterotopic skeletal muscle" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology created_by: csmith creation_date: 2010-03-04T02:09:05Z [Term] id: MP:0010057 name: abnormal olfactory bulb outer nerve layer morphology def: "any structural anomaly of the outermost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia" [PMID:12533617] synonym: "abnormal olfactory bulb ONL morphology" EXACT [] is_a: MP:0009946 ! abnormal olfactory bulb layer morphology created_by: csmith creation_date: 2010-03-05T12:10:15Z [Term] id: MP:0010058 name: enlarged olfactory bulb def: "increased size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased olfactory bulb size" EXACT [] is_a: MP:0000819 ! abnormal olfactory bulb morphology created_by: csmith creation_date: 2010-03-05T01:38:37Z [Term] id: MP:0010059 name: olfactory bulb hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the forebrain region that coordinates neuronal signaling involved in the perception of smell" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002741 ! small olfactory bulb created_by: csmith creation_date: 2010-03-05T01:45:03Z [Term] id: MP:0010060 name: abnormal creatine level def: "anomaly in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized" [MGI:csmith] synonym: "abnormal creatin concentration" NARROW [] synonym: "abnormal creatine concentration" EXACT [] synonym: "abnormal phosphocreatine concentration" NARROW [] is_a: MP:0005332 ! abnormal amino acid level created_by: csmith creation_date: 2010-03-09T11:21:46Z [Term] id: MP:0010061 name: increased creatine level def: "increase in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized" [MGI:csmith] synonym: "increased creatin concentration" EXACT [] synonym: "increased creatine concentration" NARROW [] synonym: "increased phosphocreatine concentration" NARROW [] is_a: MP:0010060 ! abnormal creatine level created_by: csmith creation_date: 2010-03-09T12:06:31Z [Term] id: MP:0010062 name: decreased creatine level def: "reduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized" [MGI:csmith] synonym: "decreased creatin concentration" EXACT [] synonym: "decreased creatine concentration" NARROW [] synonym: "decreased phosphocreatine concentration" NARROW [] synonym: "reduced creatin concentration" EXACT [] synonym: "reduced creatine level" EXACT [] synonym: "reduced phosphocreatine concentration" NARROW [] is_a: MP:0010060 ! abnormal creatine level created_by: csmith creation_date: 2010-03-09T12:06:51Z [Term] id: MP:0010063 name: abnormal circulating creatine level def: "anomaly in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized" [MGI:csmith] synonym: "abnormal circulating creatin concentration" EXACT [] synonym: "abnormal circulating creatine concentration" EXACT [] is_a: MP:0005311 ! abnormal circulating amino acid level is_a: MP:0010060 ! abnormal creatine level created_by: csmith creation_date: 2010-03-09T12:07:10Z [Term] id: MP:0010064 name: increased circulating creatine level def: "increase in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized" [MGI:csmith] synonym: "increased circulating creatin concentration" EXACT [] synonym: "increased circulating creatine concentration" EXACT [] is_a: MP:0010061 ! increased creatine level is_a: MP:0010063 ! abnormal circulating creatine level created_by: csmith creation_date: 2010-03-09T12:07:29Z [Term] id: MP:0010065 name: decreased circulating creatine level def: "reduction in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized" [MGI:csmith] synonym: "decreased circulating creatin concentration" EXACT [] synonym: "decreased circulating creatine concentration" EXACT [] synonym: "reduced circulating creatin concentration" EXACT [] synonym: "reduced circulating creatine concentration" EXACT [] is_a: MP:0010062 ! decreased creatine level is_a: MP:0010063 ! abnormal circulating creatine level created_by: csmith creation_date: 2010-03-09T12:07:58Z [Term] id: MP:0010066 name: abnormal red blood cell distribution width def: "an anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism" [MGI:csmith, NCI:C64800] synonym: "abnormal erythrocyte distribution width" EXACT [] synonym: "abnormal RDW" EXACT [] synonym: "abnormal red blood cell size variability" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-03-09T03:18:27Z [Term] id: MP:0010067 name: increased red blood cell distribution width def: "higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism" [MGI:csmith, NCI:C64800] subset: Sanger_Terms synonym: "high RDW" EXACT [] synonym: "high red blood cell distribution width" EXACT [] synonym: "increased erythrocyte distribution width" EXACT [] synonym: "increased red blood cell size variability" EXACT [] is_a: MP:0010066 ! abnormal red blood cell distribution width created_by: csmith creation_date: 2010-03-09T03:40:51Z [Term] id: MP:0010068 name: decreased red blood cell distribution width def: "lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism" [MGI:csmith, NCI:C64800] subset: Sanger_Terms synonym: "decreased erythrocyte distribution width" EXACT [] synonym: "decreased red blood cell size variability" EXACT [] synonym: "low RDW" EXACT [] synonym: "low red blood cell distribution width" EXACT [] synonym: "reduced erythrocyte distribution width" EXACT [] synonym: "reduced RDW" EXACT [] synonym: "reduced red blood cell distribution width" EXACT [] synonym: "reduced red blood cell size variability" EXACT [] is_a: MP:0010066 ! abnormal red blood cell distribution width created_by: csmith creation_date: 2010-03-09T03:40:51Z [Term] id: MP:0010069 name: increased serotonin level def: "increase in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8] synonym: "increased 5-HT level" EXACT [] synonym: "increased 5-hydroxytryptamine level" EXACT [] synonym: "increased enteramine level" EXACT [] synonym: "increased hippophaine level" RELATED [] synonym: "increased hydroxytryptamine level" EXACT [] synonym: "increased serotonin concentration" RELATED [] is_a: MP:0005322 ! abnormal serotonin level created_by: csmith creation_date: 2010-03-12T02:44:09Z [Term] id: MP:0010070 name: decreased serotonin level def: "reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8] synonym: "decreased 5-HT level" EXACT [] synonym: "decreased 5-hydroxytryptamine level" EXACT [] synonym: "decreased enteramine level" EXACT [] synonym: "decreased hippophaine level" EXACT [] synonym: "decreased hydroxytryptamine level" EXACT [] synonym: "decreased serotonin concentration" RELATED [] synonym: "reduced serotonin concentration" EXACT [] synonym: "reduced serotonin level" EXACT [] is_a: MP:0005322 ! abnormal serotonin level created_by: csmith creation_date: 2010-03-12T02:44:38Z [Term] id: MP:0010071 name: abnormal pruritus def: "anomaly in the normal absence or presence of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch" [ISBN:0-683-40008-8] synonym: "abnormal itch reaction" EXACT [] synonym: "abnormal itchiness response" EXACT [] is_a: MP:0005501 ! abnormal skin physiology created_by: csmith creation_date: 2010-03-12T02:58:04Z [Term] id: MP:0010072 name: increased pruritus def: "abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch" [ISBN:0-683-40008-8] synonym: "increased itch reponse" EXACT [] synonym: "increased itchiness" EXACT [] is_a: MP:0010071 ! abnormal pruritus created_by: csmith creation_date: 2010-03-12T03:29:34Z [Term] id: MP:0010073 name: decreased pruritus def: "absence or decreased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch" [ISBN:0-683-40008-8] synonym: "decreased itch response" EXACT [] synonym: "decreased itchiness" EXACT [] is_a: MP:0010071 ! abnormal pruritus created_by: csmith creation_date: 2010-03-12T03:32:39Z [Term] id: MP:0010074 name: stomatocytosis def: "deformation of red blood cells to a cup-like shape, with swelling and with an elongated area of central pallor, instead of the normal biconcave shape" [ISBN:0-683-40008-8] synonym: "hydrocytosis" EXACT [] synonym: "increased fish mouth cell number" EXACT [] synonym: "increased mouth-shaped erythrocyte number" EXACT [] synonym: "increased stomatocyte number" RELATED [] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-03-12T03:38:16Z [Term] id: MP:0010075 name: abnormal circulating plant sterol concentration def: "anomaly in the amount per unit of phytosterols in the blood" [MGI:csmith] synonym: "abnormal circulating phytosterol concentration" EXACT [] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0010076 ! abnormal plant sterol concentration created_by: csmith creation_date: 2010-03-12T03:51:43Z [Term] id: MP:0010076 name: abnormal plant sterol concentration def: "anomaly in the amount per unit of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols" [ISBN:0-683-40008-8] is_a: MP:0001547 ! abnormal lipid level created_by: csmith creation_date: 2010-03-12T03:53:35Z [Term] id: MP:0010077 name: increased plant sterol concentration def: "increased amount per unit of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols" [ISBN:0-683-40008-8] synonym: "phytosterolemia" EXACT [] synonym: "sitosterolemia" EXACT [] is_a: MP:0010076 ! abnormal plant sterol concentration created_by: csmith creation_date: 2010-03-12T03:55:49Z [Term] id: MP:0010078 name: increased circulating plant sterol concentration def: "increase in the amount per unit of phytosterols in the blood" [MGI:csmith] synonym: "increased circulating phytosterol concentration" EXACT [] is_a: MP:0010075 ! abnormal circulating plant sterol concentration is_a: MP:0010077 ! increased plant sterol concentration created_by: csmith creation_date: 2010-03-12T04:02:19Z [Term] id: MP:0010079 name: osteochondroma def: "a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells; most often associated with one or more of the long bones" [ISBN:0-683-40008-8] is_a: MP:0010280 ! increased skeletal tumor incidence created_by: csmith creation_date: 2010-03-19T02:34:32Z [Term] id: MP:0010080 name: abnormal hepatocyte physiology def: "any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules" [MGI:csmith] is_a: MP:0000609 ! abnormal liver physiology created_by: csmith creation_date: 2010-03-23T01:37:46Z [Term] id: MP:0010081 name: posterior microphthalmia def: "reduced average size of the back of the eye" [MGI:llw2] is_a: MP:0001297 ! microphthalmia created_by: csmith creation_date: 2010-03-26T03:59:01Z [Term] id: MP:0010082 name: sternebra fusion def: "appearance of one or more sternebrae as a single structure" [MGI:anna] synonym: "fused sternebrae" EXACT [] synonym: "sternebrae fusion" EXACT [] synonym: "sternebral fusion" EXACT [] is_a: MP:0004322 ! abnormal sternebra morphology created_by: csmith creation_date: 2010-03-26T04:04:26Z [Term] id: MP:0010083 name: encephalocele def: "a congenital gap in the cranium with herniation of brain substance caused by failure of the neural tube to close completely during fetal development" [MGI:anna] synonym: "bifid cranium" EXACT [] synonym: "craniocele" EXACT [] synonym: "craniocoele" EXACT [] synonym: "cranium bifidum" EXACT [] synonym: "encephalocoele" EXACT [] is_a: MP:0003720 ! abnormal neural tube closure created_by: csmith creation_date: 2010-03-26T04:28:20Z [Term] id: MP:0010084 name: abnormal long lived plasma cell morphology def: "any structural anomaly of a fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive; the majority of these cells of this type reside in the bone marrow" [CL:0000974] is_a: MP:0002439 ! abnormal plasma cell morphology created_by: csmith creation_date: 2010-03-29T10:53:46Z [Term] id: MP:0010085 name: abnormal short lived plasma cell morphology def: "any structural anomaly of a fully differentiated plasma cell that lives for months, not years" [CL:0000975] is_a: MP:0002439 ! abnormal plasma cell morphology created_by: csmith creation_date: 2010-03-29T10:56:46Z [Term] id: MP:0010086 name: abnormal circulating fructosamine level def: "any anomaly in the concentration in the blood of total non enzymatic glycated proteins in the blood" [MGI:csmith] synonym: "abnormal circulating glycated serum protein level" EXACT [] synonym: "abnormal circulating GSP level" EXACT [] is_a: MP:0009642 ! abnormal blood homeostasis created_by: csmith creation_date: 2010-03-29T11:03:21Z [Term] id: MP:0010087 name: increased circulating fructosamine level def: "increase in the concentration in the blood of total non enzymatic glycated proteins in the blood" [MGI:csmith] subset: Sanger_Terms synonym: "increased circulating glycated serum protein level" EXACT [] synonym: "increased circulating GSP level" EXACT [] is_a: MP:0010086 ! abnormal circulating fructosamine level created_by: csmith creation_date: 2010-03-29T11:27:53Z [Term] id: MP:0010088 name: decreased circulating fructosamine level def: "decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood" [MGI:csmith] subset: Sanger_Terms synonym: "decreased circulating glycated serum protein level" EXACT [] synonym: "decreased circulating GSP level" EXACT [] synonym: "reduced circulating fructosamine level" EXACT [] synonym: "reduced circulating glycated serum protein level" EXACT [] synonym: "reduced circulating GSP level" EXACT [] is_a: MP:0010086 ! abnormal circulating fructosamine level created_by: csmith creation_date: 2010-03-29T11:30:42Z [Term] id: MP:0010089 name: abnormal circulating creatine kinase level def: "any anomaly in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith] comment: There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID: 14624200 not to mention Wikipedia. synonym: "abnormal circulating CK level" EXACT [] synonym: "abnormal circulating CPK level" EXACT [] synonym: "abnormal circulating creatine phosphokinase level" EXACT [] synonym: "abnormal circulating creatinine kinase level" EXACT [] synonym: "abnormal circulating phospho-creatine kinase level" EXACT [] is_a: MP:0001570 ! abnormal circulating enzyme level created_by: csmith creation_date: 2010-03-29T12:56:17Z [Term] id: MP:0010090 name: increased circulating creatine kinase level def: "an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith] comment: There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID: 14624200 not to mention Wikipedia. subset: Sanger_Terms synonym: "elevated circulating CK level" EXACT [] synonym: "elevated circulating CPK level" EXACT [] synonym: "elevated circulating creatine kinase level" EXACT [] synonym: "elevated circulating creatine phosphokinase level" EXACT [] synonym: "elevated circulating creatinine kinase level" EXACT [] synonym: "elevated circulating phospho-creatine kinase level" EXACT [] synonym: "increased circulating CK level" EXACT [] synonym: "increased circulating CPK level" EXACT [] synonym: "increased circulating creatine phosphokinase level" EXACT [] synonym: "increased circulating creatinine kinase level" EXACT [] synonym: "increased circulating phospho-creatine kinase level" EXACT [] is_a: MP:0010089 ! abnormal circulating creatine kinase level created_by: csmith creation_date: 2010-03-29T12:56:45Z [Term] id: MP:0010091 name: decreased circulating creatine kinase level def: "a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith] comment: There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID: 14624200 not to mention Wikipedia. subset: Sanger_Terms synonym: "decreased circulating CK level" EXACT [] synonym: "decreased circulating CPK level" EXACT [] synonym: "decreased circulating creatine phosphokinase level" EXACT [] synonym: "decreased circulating creatinine kinase level" EXACT [] synonym: "decreased circulating phospho-creatine kinase level" EXACT [] synonym: "reduced circulating CK level" EXACT [] synonym: "reduced circulating CPK level" EXACT [] synonym: "reduced circulating creatine kinase level" EXACT [] synonym: "reduced circulating creatine phosphokinase level" EXACT [] synonym: "reduced circulating creatinine kinase level" EXACT [] synonym: "reduced circulating phospho-creatine kinase level" EXACT [] is_a: MP:0010089 ! abnormal circulating creatine kinase level created_by: csmith creation_date: 2010-03-29T12:56:51Z [Term] id: MP:0010092 name: increased circulating magnesium level def: "an elevation in the blood concentration of magnesium" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "elevated circulating magnesium level" EXACT [] synonym: "hypermagnesemia" EXACT [] is_a: MP:0001771 ! abnormal circulating magnesium level created_by: csmith creation_date: 2010-03-29T01:33:11Z [Term] id: MP:0010093 name: decreased circulating magnesium level def: "a reduction in the blood concentration of magnesium" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "hypomagnesemia" EXACT [] synonym: "reduced circulating magnesium level" EXACT [] is_a: MP:0001771 ! abnormal circulating magnesium level created_by: csmith creation_date: 2010-03-29T01:33:34Z [Term] id: MP:0010094 name: abnormal chromosome stability def: "anomaly in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity" [MGI:csmith, MGI:llw2] is_a: MP:0005621 ! abnormal cell physiology created_by: csmith creation_date: 2010-03-29T01:43:05Z [Term] id: MP:0010095 name: increased chromosomal stability def: "decrease in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity" [MGI:csmith, MGI:llw2] subset: Sanger_Terms is_a: MP:0010094 ! abnormal chromosome stability created_by: csmith creation_date: 2010-03-29T01:43:48Z [Term] id: MP:0010096 name: abnormal incisor color def: "anomaly in the color and shading of the incisor, which normally presents in shades of white" [PMID:12407097] subset: Sanger_Terms is_a: MP:0005358 ! abnormal incisor morphology created_by: csmith creation_date: 2010-03-29T01:47:52Z [Term] id: MP:0010097 name: abnormal retinal blood vessel morphology def: "any structural anomaly of the blood vessels supplying the retina" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal retinal blood vessel structure" EXACT [] is_a: MP:0002792 ! abnormal retinal vasculature morphology created_by: csmith creation_date: 2010-03-29T02:18:50Z [Term] id: MP:0010098 name: abnormal retinal blood vessel pattern def: "anomaly in the systematic arrangement of the blood vessels supplying the retina" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal retina blood vessel pattern" EXACT [] is_a: MP:0002792 ! abnormal retinal vasculature morphology created_by: csmith creation_date: 2010-03-29T02:18:59Z [Term] id: MP:0010099 name: abnormal thoracic cage shape def: "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith] subset: Sanger_Terms synonym: "abnormal rib cage shape" EXACT [] synonym: "abnormal ribcage shape" EXACT [] synonym: "abnormal thoracic basket shape" EXACT [] is_a: MP:0004624 ! abnormal thoracic cage morphology created_by: csmith creation_date: 2010-03-29T02:26:00Z [Term] id: MP:0010100 name: increased cervical vertebrae number def: "increased number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull" [MGI:csmith] subset: Sanger_Terms is_a: MP:0000464 ! increased presacral vertebrae number is_a: MP:0003048 ! abnormal cervical vertebrae morphology is_a: MP:0004644 ! increased vertebrae number created_by: csmith creation_date: 2010-03-29T03:40:08Z [Term] id: MP:0010101 name: increased sacral vertebrae number def: "increase of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith] subset: Sanger_Terms is_a: MP:0003050 ! abnormal sacral vertebrae morphology is_a: MP:0004644 ! increased vertebrae number created_by: csmith creation_date: 2010-03-29T03:40:58Z [Term] id: MP:0010102 name: increased caudal vertebrae number def: "increased number of the bony segments of the coccyx or tail" [MGI:csmith] subset: Sanger_Terms synonym: "increased tail vertebrae number" EXACT [] is_a: MP:0002759 ! abnormal caudal vertebrae morphology is_a: MP:0004644 ! increased vertebrae number created_by: csmith creation_date: 2010-03-29T03:41:53Z [Term] id: MP:0010103 name: small thoracic cage def: "reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith] subset: Sanger_Terms synonym: "small rib cage" EXACT [] synonym: "small ribcage" EXACT [] synonym: "small thoracic basket" EXACT [] is_a: MP:0004624 ! abnormal thoracic cage morphology created_by: csmith creation_date: 2010-04-01T09:37:12Z [Term] id: MP:0010104 name: enlarged thoracic cage def: "increased size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith] subset: Sanger_Terms synonym: "enlarged rib cage" EXACT [] synonym: "enlarged ribcage" EXACT [] synonym: "enlarged thoracic basket" EXACT [] is_a: MP:0004624 ! abnormal thoracic cage morphology created_by: csmith creation_date: 2010-04-01T09:37:36Z [Term] id: MP:0010105 name: abnormal sublingual ganglion morphology def: "any structural anomaly of the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland" [ISBN:0-683-40008-8] synonym: "abnormal lingual ganglion morphology" EXACT [] xref: MA:0002982 is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology created_by: csmith creation_date: 2010-04-08T12:19:52Z [Term] id: MP:0010106 name: abnormal circulating pyruvate kinase level def: "abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia" [ISBN:0-683-40008-8] synonym: "abnormal circulating ATP:pyruvate 2-O-phosphotransferase level" EXACT [] synonym: "abnormal circulating phosphoenol transphosphorylase level" EXACT [] synonym: "abnormal circulating phosphoenolpyruvate kinase level" EXACT [] is_a: MP:0001570 ! abnormal circulating enzyme level created_by: csmith creation_date: 2010-04-08T01:26:15Z [Term] id: MP:0010107 name: abnormal renal reabsorbtion def: "any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorbtion begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules" [MGI:anna] synonym: "abnormal kidney reabsorbtion" EXACT [] synonym: "abnormal kidney reuptake" EXACT [] synonym: "abnormal kidney uptake" EXACT [] synonym: "abnormal nephron absorption" EXACT [] synonym: "abnormal renal absorbtion" EXACT [] synonym: "abnormal renal basolateral membrane transport" NARROW [] synonym: "abnormal renal basolateral membrane uptake" NARROW [] synonym: "abnormal renal brush border transport" NARROW [] synonym: "abnormal renal brush border uptake" NARROW [] synonym: "abnormal renal reuptake" EXACT [] synonym: "abnormal renal uptake" EXACT [] xref: GO:0070293 is_a: MP:0002136 ! abnormal kidney physiology created_by: csmith creation_date: 2010-04-09T10:41:11Z [Term] id: MP:0010108 name: abnormal renal water reabsorbtion def: "any anomaly in the process by which water is passively transported out of the renal tubules back into the bloodstream" [MGI:anna] synonym: "abnormal kidney water reabsorbtion" EXACT [] synonym: "abnormal nephron water absorption" EXACT [] synonym: "abnormal renal water absorption" EXACT [] is_a: MP:0001784 ! abnormal fluid regulation is_a: MP:0010107 ! abnormal renal reabsorbtion is_a: MP:0011443 ! abnormal renal water transport created_by: csmith creation_date: 2010-04-09T10:46:15Z [Term] id: MP:0010109 name: abnormal renal sodium reabsorbtion def: "any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream" [MGI:anna] synonym: "abnormal kidney sodium reabsorbtion" EXACT [] synonym: "abnormal renal sodium ion reabsorbtion" EXACT [] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0005636 ! abnormal mineral homeostasis is_a: MP:0010107 ! abnormal renal reabsorbtion is_a: MP:0011442 ! abnormal renal sodium ion transport created_by: csmith creation_date: 2010-04-09T10:47:28Z [Term] id: MP:0010110 name: abnormal renal phosphate reabsorbtion def: "any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream" [MGI:anna] synonym: "abnormal kidney phosphate reabsorbtion" EXACT [] synonym: "abnormal phosphate reuptake" EXACT [] is_a: MP:0001765 ! abnormal ion homeostasis is_a: MP:0010107 ! abnormal renal reabsorbtion created_by: csmith creation_date: 2010-04-09T10:48:24Z [Term] id: MP:0010111 name: abnormal renal calcium reabsorbtion def: "any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream" [MGI:anna] synonym: "abnormal kidney calcium reabsorbtion" EXACT [] synonym: "abnormal renal calcium absorbtion" EXACT [] synonym: "abnormal renal calcium ion reabsorbtion" EXACT [] is_a: MP:0004231 ! abnormal calcium ion homeostasis is_a: MP:0010107 ! abnormal renal reabsorbtion created_by: csmith creation_date: 2010-04-09T10:49:27Z [Term] id: MP:0010112 name: abnormal coccygeal vertebrae morphology def: "any structural anomaly of the 3-5 separate or fused bony segments of the coccyx" [MGI:csmith] comment: In humans and other tailless primates (e.g. great apes), the coccyx is the remnant or a vestigial tail. It consists of 3-5 separate or fused vertebrae (the coccygeal vertebrae) below the sacrum. synonym: "abnormal coccyx vertebra" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology is_a: MP:0010114 ! abnormal coccyx morphology created_by: csmith creation_date: 2010-04-09T12:38:05Z [Term] id: MP:0010113 name: abnormal sacrum morphology def: "any structural anomaly of the segment of the vertebral column that is formed by the fusion of five sacral vertebrae in adult humans and tailless primates" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal vertebra magna morphology" EXACT [] is_a: MP:0004703 ! abnormal vertebral column morphology created_by: csmith creation_date: 2010-04-09T12:50:12Z [Term] id: MP:0010114 name: abnormal coccyx morphology def: "any structural anomaly of the rostral-most segment of the vertebral column that is formed by the fusion of three to five coccygeal vertebrae in adult humans and tailless primates" [ISBN:0-683-40008-8, MGI:csmith] comment: In humans and other tailless primates (e.g. great apes), the coccyx is the remnant of a vestigial tail. It consists of 3-5 separate or fused vertebrae (the coccygeal vertebrae) below the sacrum. synonym: "abnormal tail bone morphology" EXACT [] is_a: MP:0004703 ! abnormal vertebral column morphology created_by: csmith creation_date: 2010-04-09T01:06:05Z [Term] id: MP:0010115 name: abnormal embryonic cloaca morphology def: "any structural anomaly of the endoderm-lined chamber into which the hidgut and allantois empty in early embryos" [ISBN:0-683-40008-8] is_a: MP:0002085 ! abnormal embryonic tissue morphology created_by: csmith creation_date: 2010-04-12T12:32:44Z [Term] id: MP:0010116 name: abnormal primitive urogenital sinus morphology def: "any structural anomaly of the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females" [ISBN:0-683-40008-8] comment: Note that the term "urogenital sinus" may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal. synonym: "abnormal UGS morphology" EXACT [] is_a: MP:0010115 ! abnormal embryonic cloaca morphology created_by: csmith creation_date: 2010-04-12T12:33:14Z [Term] id: MP:0010117 name: abnormal lateral plate mesoderm morphology def: "any structural anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures" [ISBN:0-683-40008-8] synonym: "abnormal lateral mesenchyme morphology" EXACT [] synonym: "abnormal lateral mesoderm" EXACT [] synonym: "abnormal lateral plate mesenchyme" EXACT [] synonym: "abnormal LPM morphology" EXACT [] is_a: MP:0001680 ! abnormal mesoderm development created_by: csmith creation_date: 2010-04-12T01:16:08Z [Term] id: MP:0010118 name: abnormal intermediate mesoderm def: "any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord" [ISBN:0-683-40008-8] synonym: "intermediate cell mass" EXACT [] is_a: MP:0001680 ! abnormal mesoderm development created_by: csmith creation_date: 2010-04-12T01:16:29Z [Term] id: MP:0010119 name: abnormal bone mineral density alt_id: MP:0005007 def: "anomaly in the amount of mineral per square centimeter of bone (usually g/cm2), used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size" [ISBN:0-683-40008-8] synonym: "abnormal BMD" EXACT [] synonym: "abnormal bone density" EXACT [] synonym: "bone density anomalies" EXACT [] is_a: MP:0003795 ! abnormal bone structure created_by: csmith creation_date: 2010-04-12T01:56:16Z [Term] id: MP:0010122 name: abnormal bone mineral content def: "any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith] synonym: "abnormal BMC" EXACT [] is_a: MP:0003795 ! abnormal bone structure created_by: csmith creation_date: 2010-04-12T02:01:05Z [Term] id: MP:0010123 name: increased bone mineral content def: "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith] subset: Sanger_Terms synonym: "elevated BMC" EXACT [] synonym: "elevated bone mineral content" EXACT [] synonym: "increased BMC" EXACT [] is_a: MP:0010122 ! abnormal bone mineral content created_by: csmith creation_date: 2010-04-12T02:01:31Z [Term] id: MP:0010124 name: decreased bone mineral content def: "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith] subset: Sanger_Terms synonym: "decreased BMC" EXACT [] synonym: "reduced BMC" EXACT [] synonym: "reduced bone mineral content" EXACT [] is_a: MP:0010122 ! abnormal bone mineral content created_by: csmith creation_date: 2010-04-12T02:02:01Z [Term] id: MP:0010125 name: abnormal parvocellular neurosecretory cell morphology def: "any structural anomaly of the secretory neurons of the paraventricular nucleus that synthesize and secrete vasopressin, corticotropin-releasing factor (CRF) and thyrotropin-releasing hormone (TRH) into blood vessels in the hypothalamo-pituitary portal system" [PMID:8543155] synonym: "abnormal parvocellular neuron morphology" EXACT [] synonym: "abnormal parvocellular neurosecretory neuron morphology" EXACT [] is_a: MP:0008845 ! abnormal paraventricular hypothalamic nucleus morphology is_a: MP:0010913 ! abnormal neuroendocrine cell morphology created_by: csmith creation_date: 2010-04-12T03:13:01Z [Term] id: MP:0010126 name: abnormal distal visceral endoderm morphology def: "any structural anomaly of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo" [MGI:csmith, PMID:17387317] synonym: "abnormal DVE morphology" EXACT [] is_a: MP:0001724 ! abnormal extraembryonic endoderm formation created_by: csmith creation_date: 2010-04-12T04:06:42Z [Term] id: MP:0010127 name: hypervolemia def: "an abnormally increased amount of space occupied by blood in the vessels" [MGI:anna] synonym: "high blood volume" EXACT [] is_a: MP:0001599 ! abnormal blood volume created_by: csmith creation_date: 2010-04-13T03:58:30Z [Term] id: MP:0010128 name: hypovolemia def: "an abnormally decreased amount of space occupied by blood in the vessels" [MGI:anna] synonym: "hyphemia" EXACT [] is_a: MP:0001599 ! abnormal blood volume created_by: csmith creation_date: 2010-04-13T03:59:21Z [Term] id: MP:0010129 name: increased DN1 thymic pro-T cell number def: "increased number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative" [CL:0000894] synonym: "increased DN1 thymic pro-T lymphocyte number" EXACT [] synonym: "increased DN1 thymic pro-T-cell number" EXACT [] synonym: "increased DN1 thymic pro-T-lymphocyte number" EXACT [] synonym: "increased DN1 thymic progenitor T cell number" EXACT [] synonym: "increased DN1 thymocyte number" EXACT [] xref: CL:0000894 is_a: MP:0000714 ! increased thymocyte number created_by: csmith creation_date: 2010-04-14T02:51:59Z [Term] id: MP:0010130 name: decreased DN1 thymic pro-T cell number def: "reduced number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative" [CL:0000894] synonym: "decreased DN1 thymic pro-T lymphocyte number" EXACT [] synonym: "decreased DN1 thymic pro-T-cell number" EXACT [] synonym: "decreased DN1 thymic pro-T-lymphocyte number" EXACT [] synonym: "decreased DN1 thymic progenitor T cell number" EXACT [] synonym: "decreased DN1 thymocyte number" EXACT [] synonym: "reduced DN1 thymic pro-T cell number" EXACT [] synonym: "reduced DN1 thymic pro-T lymphocyte number" EXACT [] synonym: "reduced DN1 thymic pro-T-cell number" EXACT [] synonym: "reduced DN1 thymic pro-T-lymphocyte number" EXACT [] synonym: "reduced DN1 thymic progenitor T cell number" EXACT [] synonym: "reduced DN1 thymocyte number" EXACT [] xref: CL:0000894 is_a: MP:0000715 ! decreased thymocyte number created_by: csmith creation_date: 2010-04-14T02:53:53Z [Term] id: MP:0010131 name: increased DN2 thymocyte number def: "increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive" [CL:0000806] comment: Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. synonym: "increased DN2 alpha-beta immature T lymphocyte number" EXACT [] synonym: "increased DN2 alpha-beta immature T-cell number" EXACT [] synonym: "increased DN2 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "increased DN2 cell number" EXACT [] synonym: "increased DN2 immature T cell number" EXACT [] synonym: "increased TN2 cell number" EXACT [] synonym: "increased TN2 thymocyte number" EXACT [] xref: CL:0000806 is_a: MP:0000714 ! increased thymocyte number created_by: csmith creation_date: 2010-04-14T02:57:06Z [Term] id: MP:0010132 name: decreased DN2 thymocyte number def: "reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive" [CL:0000806] comment: Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. synonym: "decreased DN2 alpha-beta immature T lymphocyte number" EXACT [] synonym: "decreased DN2 alpha-beta immature T-cell number" EXACT [] synonym: "decreased DN2 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "decreased DN2 cell number" EXACT [] synonym: "decreased DN2 immature T cell number" EXACT [] synonym: "decreased TN2 cell number" EXACT [] synonym: "decreased TN2 thymocyte number" EXACT [] synonym: "reduced DN2 alpha-beta immature T lymphocyte number" EXACT [] synonym: "reduced DN2 alpha-beta immature T-cell number" EXACT [] synonym: "reduced DN2 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "reduced DN2 cell number" EXACT [] synonym: "reduced DN2 immature T cell number" EXACT [] synonym: "reduced DN2 thymocyte number" EXACT [] synonym: "reduced TN2 cell number" EXACT [] synonym: "reduced TN2 thymocyte number" EXACT [] xref: CL:0000806 is_a: MP:0000715 ! decreased thymocyte number created_by: csmith creation_date: 2010-04-14T02:59:07Z [Term] id: MP:0010133 name: increased DN3 thymocyte number def: "increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain." [CL:0000807] synonym: "increased DN3 alpha-beta immature T lymphocyte number" EXACT [] synonym: "increased DN3 alpha-beta immature T-cell number" EXACT [] synonym: "increased DN3 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "increased DN3 cell number" EXACT [] synonym: "increased DN3 immature T cell number" EXACT [] synonym: "increased TN3 cell number" EXACT [] synonym: "increased TN3 thymocyte number" EXACT [] xref: CL:0000807 is_a: MP:0000714 ! increased thymocyte number created_by: csmith creation_date: 2010-04-14T02:59:28Z [Term] id: MP:0010134 name: decreased DN3 thymocyte number def: "reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain." [CL:0000807] synonym: "decreased DN3 alpha-beta immature T lymphocyte number" EXACT [] synonym: "decreased DN3 alpha-beta immature T-cell number" EXACT [] synonym: "decreased DN3 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "decreased DN3 cell number" EXACT [] synonym: "decreased DN3 immature T cell number" EXACT [] synonym: "decreased TN3 cell number" EXACT [] synonym: "decreased TN3 thymocyte number" EXACT [] synonym: "reduced DN3 alpha-beta immature T lymphocyte number" EXACT [] synonym: "reduced DN3 alpha-beta immature T-cell number" EXACT [] synonym: "reduced DN3 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "reduced DN3 cell number" EXACT [] synonym: "reduced DN3 immature T cell number" EXACT [] synonym: "reduced DN3 thymocyte number" EXACT [] synonym: "reduced TN3 cell number" EXACT [] synonym: "reduced TN3 thymocyte number" EXACT [] xref: CL:0000807 is_a: MP:0000715 ! decreased thymocyte number created_by: csmith creation_date: 2010-04-14T02:59:48Z [Term] id: MP:0010135 name: increased DN4 thymocyte number def: "increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive." [CL:0000808] comment: Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. synonym: "increased DN4 alpha-beta immature T lymphocyte number" EXACT [] synonym: "increased DN4 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "increased DN4 cell number" EXACT [] synonym: "increased DN4 immature T cell number" EXACT [] synonym: "increased DN4 immature T-cell number" EXACT [] xref: CL:0000808 is_a: MP:0000714 ! increased thymocyte number created_by: csmith creation_date: 2010-04-14T03:00:10Z [Term] id: MP:0010136 name: decreased DN4 thymocyte number def: "reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive." [CL:0000808] comment: Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. synonym: "decreased DN4 alpha-beta immature T lymphocyte number" EXACT [] synonym: "decreased DN4 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "decreased DN4 cell number" EXACT [] synonym: "decreased DN4 immature T cell number" EXACT [] synonym: "decreased DN4 immature T-cell number" EXACT [] synonym: "reduced DN4 alpha-beta immature T lymphocyte number" EXACT [] synonym: "reduced DN4 alpha-beta immature T-lymphocyte number" EXACT [] synonym: "reduced DN4 cell number" EXACT [] synonym: "reduced DN4 immature T cell number" EXACT [] synonym: "reduced DN4 immature T-cell number" EXACT [] synonym: "reduced DN4 thymocyte number" EXACT [] xref: CL:0000808 is_a: MP:0000715 ! decreased thymocyte number created_by: csmith creation_date: 2010-04-14T03:00:30Z [Term] id: MP:0010137 name: delayed exit from anagen phase def: "anomaly in the growth phase of the hair cycle resulting a prolonged anagen phase" [MGI:Sanger_Karp] subset: Sanger_Terms is_a: MP:0008858 ! abnormal hair cycle anagen phase created_by: csmith creation_date: 2010-05-05T11:20:34Z [Term] id: MP:0010138 name: arteritis def: "inflammation of the walls of arteries, usually as a result of infection or auto-immune response" [MGI:anna] synonym: "arterial inflammation" EXACT [] is_a: MP:0001864 ! vasculitis created_by: csmith creation_date: 2010-05-05T11:33:59Z [Term] id: MP:0010139 name: aortitis def: "inflammation of the aorta" [MGI:anna] synonym: "aorta inflammation" EXACT [] is_a: MP:0010138 ! arteritis created_by: csmith creation_date: 2010-05-05T11:35:09Z [Term] id: MP:0010140 name: phlebitis def: "inflammation of a vein" [MGI:anna] synonym: "vein inflammation" EXACT [] is_a: MP:0001864 ! vasculitis created_by: csmith creation_date: 2010-05-05T11:37:22Z [Term] id: MP:0010141 name: lymphangitis def: "inflammation of the lymphatic vessels/channels" [MGI:anna] synonym: "lymphatic channel inflammation" EXACT [] synonym: "lymphatic vessel inflammation" EXACT [] is_a: MP:0001864 ! vasculitis created_by: csmith creation_date: 2010-05-05T11:38:46Z [Term] id: MP:0010142 name: disorganized hair shaft def: "derangement of the normal pattern of the layered structure of the cuticle, cortex and/or medulla of a hair" [MGI:csmith] is_a: MP:0003809 ! abnormal hair shaft morphology created_by: csmith creation_date: 2010-05-05T03:27:36Z [Term] id: MP:0010143 name: enhanced fertility def: "increased ability to produce live offspring" [MGI:mnk] is_a: MP:0002161 ! abnormal fertility/fecundity created_by: csmith creation_date: 2010-05-10T12:43:08Z [Term] id: MP:0010144 name: abnormal tumor vascularization def: "aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors" [MGI:mnk] synonym: "abnormal tumor angiogenesis" EXACT [] is_a: MP:0000260 ! abnormal angiogenesis is_a: MP:0010639 ! altered tumor pathology created_by: csmith creation_date: 2010-05-10T01:02:25Z [Term] id: MP:0010145 name: abnormal spermatic cord morphology def: "any structural anomaly of the cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis" [MGI:llw2] is_a: MP:0009205 ! abnormal internal male genitalia morphology created_by: csmith creation_date: 2010-05-10T02:31:11Z [Term] id: MP:0010146 name: umbilical hernia alt_id: Fyler:4445 def: "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb, PMID:20333300] comment: Do not confuse with omphalocele - a severe body wall defect that results in an abnormally large umbilical ring usually exposing the gut and liver. subset: CvDC_Terms is_a: MP:0001725 ! abnormal umbilical cord morphology created_by: csmith creation_date: 2010-05-10T02:40:34Z [Term] id: MP:0010147 name: abnormal endocrine pancreas physiology def: "any functional anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans" [MGI:csmith] is_a: MP:0002693 ! abnormal pancreas physiology created_by: csmith creation_date: 2010-05-10T03:24:28Z [Term] id: MP:0010148 name: abnormal exocrine pancreas physiology def: "any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes" [MESH:A03.734.540, MGI:csmith] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0002693 ! abnormal pancreas physiology created_by: csmith creation_date: 2010-05-10T03:24:55Z [Term] id: MP:0010149 name: abnormal synaptic dopamine release def: "aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary" [MGI:csmith] is_a: MP:0005445 ! abnormal neurotransmitter secretion created_by: csmith creation_date: 2010-05-10T03:41:12Z [Term] id: MP:0010150 name: abnormal mandibule ramus morphology def: "any structural anomaly of the upturned perpendicular extremity of the mandible" [ISBN:0-683-40008-8] synonym: "abnormal mandibular ramus morphology" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology created_by: csmith creation_date: 2010-05-10T04:12:38Z [Term] id: MP:0010151 name: abnormal spinal cord ependymal layer morphology def: "any structural anomaly of the cellular membrane that lines the central canal of the spinal cord" [ISBN:0-683-40008-8] synonym: "abnormal spinal cord ventricular layer morphology" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology is_a: MP:0002653 ! abnormal ependyma morphology created_by: csmith creation_date: 2010-05-11T10:47:16Z [Term] id: MP:0010152 name: abnormal brain ependyma morphology def: "any structural anomaly of the cellular membrane that lines the brain ventricles" [ISBN:0-683-40008-8] is_a: MP:0002200 ! abnormal brain ventricle/choroid plexus morphology is_a: MP:0002653 ! abnormal ependyma morphology created_by: csmith creation_date: 2010-05-11T12:21:52Z [Term] id: MP:0010153 name: abnormal gastroesophageal sphincter morphology def: "any structural anomaly of the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach" [ISBN:0-683-40008-8] synonym: "abnormal cardiac sphincter morphology" EXACT [] synonym: "abnormal constrictor cardiae morphology" RELATED [] synonym: "abnormal esophageal sphincter morphology" BROAD [] synonym: "abnormal inferior esophageal sphincter morphology" EXACT [] synonym: "abnormal lower esophageal sphincter morphology" EXACT [] xref: MA:0002951 is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0010798 ! abnormal stomach cardiac region morphology created_by: csmith creation_date: 2010-05-11T03:05:45Z [Term] id: MP:0010154 name: abnormal gastroesophageal sphincter physiology def: "any functional anomaly of the thick circular layer of gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach" [ISBN:0-683-40008-8] synonym: "abnormal cardiac sphincter physiology" EXACT [] synonym: "abnormal constrictor cardiae physiology" RELATED [] synonym: "abnormal esophageal sphincter physiology" BROAD [] synonym: "abnormal inferior esophageal sphincter physiology" EXACT [] synonym: "abnormal lower esophageal sphincter physiology" EXACT [] xref: MA:0002951 is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0002106 ! abnormal muscle physiology created_by: csmith creation_date: 2010-05-11T03:14:07Z [Term] id: MP:0010155 name: abnormal intestine physiology def: "any functional anomaly of the digestive tube passing from the stomach to the anus" [MGI:csmith] is_a: MP:0001663 ! abnormal digestive system physiology created_by: csmith creation_date: 2010-05-12T02:04:15Z [Term] id: MP:0010156 name: abnormal small intestinal crypt cell physiology def: "any functional anomaly of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine" [MGI:jbubier] is_a: MP:0010155 ! abnormal intestine physiology created_by: csmith creation_date: 2010-05-12T02:13:57Z [Term] id: MP:0010157 name: abnormal small intestinal crypt cell proliferation def: "anomaly in the ability of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine to undergo expansion by cell division" [MGI:jbubier] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0010156 ! abnormal small intestinal crypt cell physiology created_by: csmith creation_date: 2010-05-12T02:15:31Z [Term] id: MP:0010158 name: abnormal intestine development def: "abnormal formation of the digestive tube passing from the stomach to the anus" [MGI:smb] is_a: MP:0000477 ! abnormal intestine morphology is_a: MP:0003119 ! abnormal digestive system development created_by: csmith creation_date: 2010-05-12T02:19:24Z [Term] id: MP:0010159 name: abnormal enterocyte differentiation def: "abnormal formation of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen" [MGI:smb] is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0010158 ! abnormal intestine development created_by: csmith creation_date: 2010-05-12T02:20:02Z [Term] id: MP:0010160 name: increased oligodendrocyte number def: "greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600, MGI:csmith] synonym: "increased oligodendroglia number" EXACT [] synonym: "increased oligodendroglial cell number" EXACT [] synonym: "increased oligoglia number" EXACT [] synonym: "increased oligoglial cell number" EXACT [] is_a: MP:0000953 ! abnormal oligodendrocyte morphology created_by: csmith creation_date: 2010-05-12T02:58:43Z [Term] id: MP:0010161 name: decreased brain cholesterol level def: "less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] synonym: "reduced brain cholesterol level" EXACT [] is_a: MP:0003983 ! decreased cholesterol level created_by: csmith creation_date: 2010-05-12T03:17:01Z [Term] id: MP:0010162 name: increased brain cholesterol level def: "greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith] is_a: MP:0003982 ! increased cholesterol level created_by: csmith creation_date: 2010-05-12T03:18:53Z [Term] id: MP:0010163 name: hemolysis def: "destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity" [ISBN:0-683-40008-8] synonym: "erythrocytolysis" EXACT [] synonym: "erythrolysis" EXACT [] synonym: "hematolysis" EXACT [] is_a: MP:0003656 ! abnormal erythrocyte physiology created_by: csmith creation_date: 2010-05-21T02:13:18Z [Term] id: MP:0010164 name: increased hemolysis def: "a greater incidence of erythrocyte destruction such that hemoglobin is released from the cells that may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity" [ISBN:0-683-40008-8] is_a: MP:0010163 ! hemolysis created_by: csmith creation_date: 2010-05-21T03:14:57Z [Term] id: MP:0010165 name: abnormal response to stress-induced hyperthermia def: "any anomaly in the expected increase in core body termperature in response to stress or anticipatory anxiety" [PMID:18722480] synonym: "abnormal SIH response" EXACT [] is_a: MP:0002572 ! abnormal emotion/affect behavior is_a: MP:0011019 ! abnormal adaptive thermogenesis created_by: mgi creation_date: 2010-05-28T02:42:40Z [Term] id: MP:0010166 name: increased response to stress-induced hyperthermia def: "greater increase or faster than expected increase in core body termperature in response to stress or anticipatory anxiety" [PMID:18722480] subset: Sanger_Terms synonym: "increased SIH response" EXACT [] is_a: MP:0010165 ! abnormal response to stress-induced hyperthermia created_by: mgi creation_date: 2010-05-28T02:47:58Z [Term] id: MP:0010167 name: decreased response to stress-induced hyperthermia def: "reduction or absence of the expected increase in core body termperature in response to stress or anticipatory anxiety" [PMID:18722480] subset: Sanger_Terms synonym: "decreased SIH response" EXACT [] is_a: MP:0010165 ! abnormal response to stress-induced hyperthermia created_by: mgi creation_date: 2010-05-28T02:48:26Z [Term] id: MP:0010168 name: increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number def: "a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149] synonym: "increased CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte number" EXACT [] synonym: "increased CD4-positive, CD25-positive, alpha-beta regulatory T-cell number" EXACT [] synonym: "increased CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte number" EXACT [] synonym: "increased CD4-positive, CD25-positive, alpha-beta Treg number" EXACT [] synonym: "increased suppressor T cell number" BROAD [] synonym: "increased suppressor T lymphocyte number" BROAD [] synonym: "increased suppressor T-cell number" BROAD [] synonym: "increased suppressor T-lymphocyte number" BROAD [] xref: CL:0000792 is_a: MP:0008074 ! increased CD4-positive T cell number is_a: MP:0008397 ! abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology created_by: mgi creation_date: 2010-05-28T03:27:31Z [Term] id: MP:0010169 name: decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number def: "a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149] synonym: "decreased CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte number" EXACT [] synonym: "decreased CD4-positive, CD25-positive, alpha-beta regulatory T-cell number" EXACT [] synonym: "decreased CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte number" EXACT [] synonym: "decreased CD4-positive, CD25-positive, alpha-beta Treg number" EXACT [] synonym: "decreased suppressor T cell number" BROAD [] synonym: "decreased suppressor T lymphocyte number" BROAD [] synonym: "decreased suppressor T-cell number" BROAD [] synonym: "decreased suppressor T-lymphocyte number" BROAD [] synonym: "reduced CD4-positive, CD25-positive, alpha-beta regulatory T cell number" EXACT [] synonym: "reduced CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte number" EXACT [] synonym: "reduced CD4-positive, CD25-positive, alpha-beta regulatory T-cell number" EXACT [] synonym: "reduced CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte number" EXACT [] synonym: "reduced CD4-positive, CD25-positive, alpha-beta Treg number" EXACT [] synonym: "reduced suppressor T cell number" BROAD [] synonym: "reduced suppressor T lymphocyte number" BROAD [] synonym: "reduced suppressor T-cell number" BROAD [] synonym: "reduced suppressor T-lymphocyte number" BROAD [] xref: CL:0000792 is_a: MP:0008075 ! decreased CD4-positive T cell number is_a: MP:0008397 ! abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology created_by: mgi creation_date: 2010-05-28T03:28:42Z [Term] id: MP:0010170 name: abnormal glial cell apoptosis def: "change in the timing or the number of glial cells undergoing programmed cell death" [MGI:csmith] synonym: "abnormal glia apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0003690 ! abnormal glial cell physiology created_by: csmith creation_date: 2010-06-01T02:20:10Z [Term] id: MP:0010171 name: abnormal centroacinar cell of Langerhans morphology def: "any structural anomaly of cells that line the pancreatic ducts that secrete mucins and an aqueous bicarbonate solution under stimulation by the hormone secretin" [MGI:csmith] synonym: "abnormal pancreatic duct cell" EXACT [] is_a: MP:0009143 ! abnormal pancreatic duct morphology created_by: csmith creation_date: 2010-06-01T02:40:50Z [Term] id: MP:0010172 name: abnormal mammary gland epithelium physiology def: "any functional anomaly of the epithelial layer of the luminal surfaces of the mammary gland" [MGI:csmith] is_a: MP:0001881 ! abnormal mammary gland physiology created_by: csmith creation_date: 2010-06-01T02:55:12Z [Term] id: MP:0010173 name: increased mammary gland epithelium proliferation def: "increase in the expansion rate of the cells of the mammary gland epithelium by cell division" [MGI:csmith] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0010172 ! abnormal mammary gland epithelium physiology created_by: csmith creation_date: 2010-06-01T02:55:42Z [Term] id: MP:0010174 name: decreased mammary gland epithelium proliferation def: "decrease in the expansion rate of the cells of the mammary gland epithelium by cell division" [MGI:csmith] synonym: "reduced mammary gland epithelium proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0010172 ! abnormal mammary gland epithelium physiology created_by: csmith creation_date: 2010-06-01T03:03:57Z [Term] id: MP:0010175 name: leptocytosis def: "the presence of unusually thin or flattened red blood cells that when stained show a dark center and a peripheral ring of hemoglobin, separated by a pale unstained ring containing less hemoglobin, resulting in a bull's-eye appearance and resembling a 3D sombrero when viewed under EM; seen in certain anemias, thalassemias, hemoglobinopathies, obstructive jaundice, and the post-splenectomy state" [MGI:anna] synonym: "increased codocyte number" EXACT [] synonym: "increased Mexican hat cell number" EXACT [] synonym: "increased target cell number" EXACT [] synonym: "Mexican hat erythrocytes" EXACT [] synonym: "target erythrocytes" EXACT [] synonym: "wafer-thin erythrocytes" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-06-01T03:33:04Z [Term] id: MP:0010176 name: dacryocytosis def: "presence of teardrop-shaped red blood cells" [MGI:anna] synonym: "tear-shaped erythrocytes" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-06-01T04:00:22Z [Term] id: MP:0010177 name: acanthocytosis def: "presence of erythrocytes characterized by multiple spiny (thorn-like) cytoplasmic projections" [MGI:anna] synonym: "spiculated red blood cells" EXACT [] synonym: "spike red blood cells" EXACT [] synonym: "spikey erythrocytes" EXACT [] synonym: "spur red blood cells" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-06-01T04:03:45Z [Term] id: MP:0010178 name: increased number of Howell-Jolly bodies def: "abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in individuals with functional hyposplenia or asplenia" [MGI:anna] synonym: "increased number of nuclear fragments in erythrocytes" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-06-01T04:06:18Z [Term] id: MP:0010179 name: rough coat def: "coat does not have the usual smooth appearance" [MGI:csmith] subset: Sanger_Terms is_a: MP:0002074 ! abnormal hair texture created_by: csmith creation_date: 2010-06-04T01:38:37Z [Term] id: MP:0010180 name: increased susceptibility to weight loss def: "greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment" [MGI:csmith] is_a: MP:0011118 ! abnormal susceptibility to weight loss created_by: csmith creation_date: 2010-06-04T03:10:44Z [Term] id: MP:0010181 name: decreased susceptibility to weight loss def: "smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment" [MGI:csmith] is_a: MP:0011118 ! abnormal susceptibility to weight loss created_by: csmith creation_date: 2010-06-04T03:15:40Z [Term] id: MP:0010182 name: decreased susceptibility to weight gain def: "smaller increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake" [MGI:csmith] is_a: MP:0011117 ! abnormal susceptibility to weight gain created_by: csmith creation_date: 2010-06-04T03:16:40Z [Term] id: MP:0010183 name: abnormal CD4-positive helper T cell morphology def: "any structural anomaly of a CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions" [CL:0000492, ISBN:0781735149] xref: FMA:70572 is_a: MP:0002432 ! abnormal CD4-positive T cell morphology created_by: csmith creation_date: 2010-06-04T03:48:29Z [Term] id: MP:0010184 name: abnormal T follicular helper cell morphology def: "any structural anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production" [CL:0002038, PMID:19855402] xref: CL:0002038 is_a: MP:0010183 ! abnormal CD4-positive helper T cell morphology created_by: csmith creation_date: 2010-06-04T03:51:32Z [Term] id: MP:0010185 name: abnormal T follicular helper cell number def: "anomaly in the number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production" [CL:0002038, PMID:19855402] xref: CL:0002038 is_a: MP:0008073 ! abnormal CD4-positive T cell number is_a: MP:0010184 ! abnormal T follicular helper cell morphology created_by: csmith creation_date: 2010-06-04T03:55:18Z [Term] id: MP:0010186 name: increased T follicular helper cell number def: "greater number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production" [CL:0002038, PMID:19855402] xref: CL:0002038 is_a: MP:0008074 ! increased CD4-positive T cell number is_a: MP:0010185 ! abnormal T follicular helper cell number created_by: csmith creation_date: 2010-06-04T03:55:39Z [Term] id: MP:0010187 name: decreased T follicular helper cell number def: "reduced number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production" [CL:0002038, PMID:19855402] xref: CL:0002038 is_a: MP:0008075 ! decreased CD4-positive T cell number is_a: MP:0010185 ! abnormal T follicular helper cell number created_by: csmith creation_date: 2010-06-04T03:56:04Z [Term] id: MP:0010188 name: abnormal T follicular helper cell differentiation def: "atypical production of or inability to produce the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production" [CL:0002038, PMID:19855402] xref: CL:0002038 is_a: MP:0008076 ! abnormal CD4-positive T cell differentiation is_a: MP:0010184 ! abnormal T follicular helper cell morphology created_by: csmith creation_date: 2010-06-04T03:56:29Z [Term] id: MP:0010189 name: abnormal T follicular helper cell physiology def: "any functional anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production" [CL:0002038, PMID:19855402] xref: CL:0002038 is_a: MP:0005463 ! abnormal CD4-positive T cell physiology created_by: csmith creation_date: 2010-06-04T03:57:37Z [Term] id: MP:0010190 name: abnormal retinal melanocyte morphology def: "any structural anomaly of the cells that produce pigment in the retina" [ISBN-13:978-1-4051-2034-0] is_a: MP:0002877 ! abnormal melanocyte morphology is_a: MP:0005103 ! abnormal retinal pigmentation created_by: csmith creation_date: 2010-06-07T01:58:02Z [Term] id: MP:0010191 name: abnormal choroid melanocyte morphology def: "any structural anomaly of the cells that produce pigment in the choroid" [ISBN-13:978-1-4051-2034-0] is_a: MP:0002877 ! abnormal melanocyte morphology is_a: MP:0005100 ! abnormal choroid pigmentation created_by: csmith creation_date: 2010-06-07T01:58:36Z [Term] id: MP:0010192 name: abnormal retinal melanin granule morphology def: "any structural anomaly of the pigment particles in the retina" [ISBN-13:978-1-4051-2034-0] is_a: MP:0005075 ! abnormal melanosome morphology is_a: MP:0010190 ! abnormal retinal melanocyte morphology created_by: csmith creation_date: 2010-06-07T02:18:07Z [Term] id: MP:0010193 name: abnormal choroid melanin granule morphology def: "any structural anomaly of the pigment particles in the choroid" [ISBN-13:978-1-4051-2034-0] is_a: MP:0005075 ! abnormal melanosome morphology is_a: MP:0010191 ! abnormal choroid melanocyte morphology created_by: csmith creation_date: 2010-06-07T02:18:27Z [Term] id: MP:0010194 name: absent lymphatic vessels def: "absence of the network of vessels which carries lymph around the body" [ISBN:0-683-40008-8] is_a: MP:0001879 ! abnormal lymphatic vessel morphology created_by: csmith creation_date: 2010-06-11T10:37:22Z [Term] id: MP:0010195 name: abnormal lymphatic vessel endothelium morphology def: "any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall" [MGI:csmith] xref: MA:0000750 is_a: MP:0001879 ! abnormal lymphatic vessel morphology created_by: csmith creation_date: 2010-06-11T10:37:57Z [Term] id: MP:0010196 name: abnormal lymphatic vessel smooth muscle morphology def: "any structural anomaly of the nonstriated, involuntary muscle tissue that encompasses the lymphatic vessels" [MGI:csmith] xref: MA:0000751 is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0001879 ! abnormal lymphatic vessel morphology created_by: csmith creation_date: 2010-06-11T10:38:19Z [Term] id: MP:0010197 name: abnormal lymphatic vessel endothelial cell morphology def: "any structural anomaly of the cells that line the lymphatic vessels" [MGI:csmith] is_a: MP:0010195 ! abnormal lymphatic vessel endothelium morphology created_by: csmith creation_date: 2010-06-11T10:39:31Z [Term] id: MP:0010198 name: decreased lymphatic vessel endothelial cell number def: "reduced number of the cells that line the lymphatic vessels" [MGI:csmith] synonym: "reduced lymphatic vessel endothelial cell number" EXACT [] is_a: MP:0010197 ! abnormal lymphatic vessel endothelial cell morphology created_by: csmith creation_date: 2010-06-11T10:40:07Z [Term] id: MP:0010199 name: absent lymphatic vessel endothelial cells def: "absence of the cells that line the lymphatic vessels" [MGI:csmith] is_a: MP:0010198 ! decreased lymphatic vessel endothelial cell number created_by: csmith creation_date: 2010-06-11T10:40:32Z [Term] id: MP:0010200 name: enlarged lymphatic vessel def: "increased size of the network of vessels which carries lymph around the body" [ISBN:0-683-40008-8] is_a: MP:0001879 ! abnormal lymphatic vessel morphology created_by: csmith creation_date: 2010-06-11T10:41:07Z [Term] id: MP:0010202 name: focal dorsal hair loss def: "focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs" [MGI:csmith, MGI:Sanger_Karp] subset: Sanger_Terms synonym: "dorsal skin visible" EXACT [] is_a: MP:0000418 ! focal hair loss created_by: csmith creation_date: 2010-06-11T03:01:23Z [Term] id: MP:0010203 name: focal ventral hair loss def: "focal hair loss on the ventral area of a rodent resulting in ventral skin visible in a patch where hair loss occurs" [MGI:csmith, MGI:Sanger_Karp] subset: Sanger_Terms synonym: "ventral skin visible" EXACT [] is_a: MP:0000418 ! focal hair loss created_by: csmith creation_date: 2010-06-11T03:04:09Z [Term] id: MP:0010204 name: abnormal astrocyte apoptosis def: "change in the timing or the number of astrocytes undergoing programmed cell death" [MGI:csmith] synonym: "abnormal astroglia apoptosis" EXACT [] synonym: "abnormal astroglial cell apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0008916 ! abnormal astrocyte physiology is_a: MP:0010170 ! abnormal glial cell apoptosis created_by: csmith creation_date: 2010-06-18T11:05:34Z [Term] id: MP:0010205 name: abnormal oligodendrocyte apoptosis def: "change in the timing or the number of oligodendrocytes undergoing programmed cell death" [MGI:csmith] synonym: "abnormal oligodendroglia apoptosis" RELATED [] synonym: "abnormal oligodendroglial cell apoptosis" EXACT [] synonym: "abnormal oligoglia apoptosis" EXACT [] synonym: "abnormal oligoglial cell apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0008917 ! abnormal oligodendrocyte physiology is_a: MP:0010170 ! abnormal glial cell apoptosis created_by: csmith creation_date: 2010-06-18T11:08:21Z [Term] id: MP:0010206 name: pigment incontinence def: "absence of melanin and melanosomes in the epidermis, and accumulation of melanin and melanosome in melanophages in the upper dermis" [MGI:csmith] synonym: "incontinence of pigment" EXACT [] is_a: MP:0002095 ! abnormal skin pigmentation created_by: csmith creation_date: 2010-06-18T03:35:59Z [Term] id: MP:0010207 name: abnormal telomere morphology def: "any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration" [MGI:csmith] is_a: MP:0003702 ! abnormal chromosome morphology created_by: csmith creation_date: 2010-06-22T01:20:58Z [Term] id: MP:0010208 name: prognathia def: "abnormal protrusion of the mandible relative to the facial skeleton and soft tissues" [MGI:csmith] synonym: "prognathism" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology created_by: csmith creation_date: 2010-06-22T03:12:19Z [Term] id: MP:0010209 name: abnormal circulating chemokine level def: "deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation" [MESH:D12.644.276.374.200, MGI:csmith] comment: The site en.wikipedia.org/wiki/Chemokine has a good list of chemokines. is_a: MP:0008721 ! abnormal chemokine level is_a: MP:0010210 ! abnormal circulating cytokine level created_by: csmith creation_date: 2010-07-05T10:00:46Z [Term] id: MP:0010210 name: abnormal circulating cytokine level def: "deviation from the normal levels in the blood of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells" [ISBN:0-8153-1691-7, MGI:csmith] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0008713 ! abnormal cytokine level created_by: csmith creation_date: 2010-07-05T10:02:09Z [Term] id: MP:0010211 name: abnormal acute phase protein level def: "deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection" [ISBN:0-8153-1691-7] is_a: MP:0002419 ! abnormal innate immunity is_a: MP:0002723 ! abnormal immune serum protein physiology is_a: MP:0008469 ! abnormal protein level created_by: csmith creation_date: 2010-07-05T12:16:59Z [Term] id: MP:0010212 name: abnormal circulating C-reactive protein level def: "deviation from the normal levels of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex" [ISBN:0-683-40008-8, MESH:D12.776.034.145, MGI:csmith] synonym: "abnormal circulating CRP level" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0010211 ! abnormal acute phase protein level created_by: csmith creation_date: 2010-07-05T01:11:19Z [Term] id: MP:0010213 name: abnormal circulating fibrinogen level def: "deviation from the normal levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0010211 ! abnormal acute phase protein level created_by: csmith creation_date: 2010-07-05T01:21:44Z [Term] id: MP:0010214 name: abnormal circulating serum amyloid protein level def: "deviation from the normal blood levels of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis" [MESH:D12.776.049.790, MGI:csmith] synonym: "abnormal SAA protein level" EXACT [] synonym: "abnormal Serum Amyloid A Protein level" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0010211 ! abnormal acute phase protein level created_by: csmith creation_date: 2010-07-05T01:22:14Z [Term] id: MP:0010215 name: abnormal circulating complement protein level def: "deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes" [MGI:csmith] synonym: "abnormal circulating complement component level" RELATED [] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0011566 ! abnormal complement protein level created_by: csmith creation_date: 2010-07-06T12:19:11Z [Term] id: MP:0010216 name: abnormal circulating retinol binding protein level def: "anomaly in the blood level of carrier proteins that bind retinol; serum levels are used to detect liver disease, protein-calorie malnutrition and vitamin A deficiencies" [PMID:10839978] synonym: "abnormal circulating CBP level" EXACT [] synonym: "abnormal circulating retinoid-binding protein level" EXACT [] is_a: MP:0005416 ! abnormal circulating protein level created_by: csmith creation_date: 2010-07-06T12:40:37Z [Term] id: MP:0010217 name: abnormal T-helper 17 cell morphology def: "any structural anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17" [CL:0000899] synonym: "abnormal helper T cell type 17 morphology" EXACT [] synonym: "abnormal Th17 cell morphology" EXACT [] synonym: "abnormal Th17 T cell morphology" EXACT [] synonym: "abnormal Th17 T lymphocyte morphology" EXACT [] synonym: "abnormal Th17 T-cell morphology" EXACT [] synonym: "abnormal Th17 T-lymphocyte morphology" EXACT [] is_a: MP:0010183 ! abnormal CD4-positive helper T cell morphology created_by: csmith creation_date: 2010-07-06T04:45:33Z [Term] id: MP:0010218 name: abnormal T-helper 17 cell number def: "deviation from the normal count of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17" [CL:0000899] synonym: "abnormal helper T cell type 17 number" EXACT [] synonym: "abnormal Th17 cell number" EXACT [] synonym: "abnormal Th17 T cell number" EXACT [] synonym: "abnormal Th17 T lymphocyte number" EXACT [] synonym: "abnormal Th17 T-cell number" EXACT [] synonym: "abnormal Th17 T-lymphocyte number" EXACT [] is_a: MP:0008073 ! abnormal CD4-positive T cell number is_a: MP:0010217 ! abnormal T-helper 17 cell morphology created_by: csmith creation_date: 2010-07-06T04:47:34Z [Term] id: MP:0010219 name: increased T-helper 17 cell number def: "increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17" [CL:0000899] synonym: "increased helper T cell type 17 number" EXACT [] synonym: "increased Th17 cell number" EXACT [] synonym: "increased Th17 T cell number" EXACT [] synonym: "increased Th17 T lymphocyte number" EXACT [] synonym: "increased Th17 T-cell number" EXACT [] synonym: "increased Th17 T-lymphocyte number" EXACT [] is_a: MP:0008074 ! increased CD4-positive T cell number is_a: MP:0010218 ! abnormal T-helper 17 cell number created_by: csmith creation_date: 2010-07-06T04:47:54Z [Term] id: MP:0010220 name: decreased T-helper 17 cell number def: "reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17" [CL:0000899] synonym: "decreased helper T cell type 17 number" EXACT [] synonym: "decreased Th17 cell number" EXACT [] synonym: "decreased Th17 T cell number" EXACT [] synonym: "decreased Th17 T lymphocyte number" EXACT [] synonym: "decreased Th17 T-cell number" EXACT [] synonym: "decreased Th17 T-lymphocyte number" EXACT [] synonym: "dreduced Th17 T-lymphocyte number" EXACT [] synonym: "reduced helper T cell type 17 number" EXACT [] synonym: "reduced Th17 cell number" EXACT [] synonym: "reduced Th17 T cell number" EXACT [] synonym: "reduced Th17 T lymphocyte number" EXACT [] synonym: "reduced Th17 T-cell number" EXACT [] is_a: MP:0008075 ! decreased CD4-positive T cell number is_a: MP:0010218 ! abnormal T-helper 17 cell number created_by: csmith creation_date: 2010-07-06T04:48:15Z [Term] id: MP:0010221 name: abnormal T-helper 17 cell differentiation def: "atypical production of or inability to produce the CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17" [CL:0000899] synonym: "abnormal helper T cell type 17 differentiation" EXACT [] synonym: "abnormal Th17 cell differentiation" EXACT [] synonym: "abnormal Th17 T cell differentiation" EXACT [] synonym: "abnormal Th17 T lymphocyte differentiation" EXACT [] synonym: "abnormal Th17 T-cell differentiation" EXACT [] synonym: "abnormal Th17 T-lymphocyte differentiation" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation is_a: MP:0010217 ! abnormal T-helper 17 cell morphology created_by: csmith creation_date: 2010-07-06T04:48:37Z [Term] id: MP:0010222 name: abnormal T-helper 17 cell physiology def: "any functional anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17" [CL:0000899] synonym: "abnormal helper T cell type 17 physiology" EXACT [] synonym: "abnormal Th17 cell physiology" EXACT [] synonym: "abnormal Th17 T cell physiology" EXACT [] synonym: "abnormal Th17 T lymphocyte physiology" EXACT [] synonym: "abnormal Th17 T-cell physiology" EXACT [] synonym: "abnormal Th17 T-lymphocyte physiology" EXACT [] is_a: MP:0005463 ! abnormal CD4-positive T cell physiology created_by: csmith creation_date: 2010-07-06T04:49:43Z [Term] id: MP:0010223 name: abnormal immunoglobulin transcytosis def: "any anomaly in the process of transporting immunoglobulin, via transcytosis, from one side of a cell to the other; occurs in epithelial cells and other cell types" [GO:0002414, MGI:csmith] is_a: MP:0001790 ! abnormal immune system physiology created_by: csmith creation_date: 2010-07-07T03:42:50Z [Term] id: MP:0010224 name: abnormal heart ventricle outflow tract morphology def: "any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries" [ISBN:0-683-40008-8] synonym: "abnormal outflow part of ventricle morphology" EXACT [] synonym: "abnormal outflow path of ventricle morphology" EXACT [] synonym: "abnormal outflow tract of ventricle morphology" EXACT [] is_a: MP:0005294 ! abnormal heart ventricle morphology created_by: csmith creation_date: 2010-07-07T04:27:25Z [Term] id: MP:0010225 name: abnormal quadriceps morphology def: "any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith] synonym: "abnormal quadriceps extensor morphology" EXACT [] synonym: "abnormal quadriceps femoris morphology" EXACT [] synonym: "abnormal quadriceps muscle morphology" EXACT [] synonym: "abnormal quads morphology" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology created_by: csmith creation_date: 2010-07-12T02:23:53Z [Term] id: MP:0010226 name: increased quadriceps weight def: "increase in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith] synonym: "increased quadriceps extensor weight" EXACT [] synonym: "increased quadriceps femoris weight" EXACT [] synonym: "increased quadriceps muscle weight" EXACT [] synonym: "increased quads weight" EXACT [] is_a: MP:0010225 ! abnormal quadriceps morphology created_by: csmith creation_date: 2010-07-12T02:36:45Z [Term] id: MP:0010227 name: decreased quadriceps weight def: "reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith] synonym: "decreased quadriceps extensor weight" EXACT [] synonym: "decreased quadriceps femoris weight" EXACT [] synonym: "decreased quadriceps muscle weight" EXACT [] synonym: "decreased quads weight" EXACT [] synonym: "reduced quadriceps extensor weight" EXACT [] synonym: "reduced quadriceps femoris weight" EXACT [] synonym: "reduced quadriceps muscle weight" EXACT [] synonym: "reduced quadriceps weight" EXACT [] synonym: "reduced quads weight" EXACT [] is_a: MP:0010225 ! abnormal quadriceps morphology created_by: csmith creation_date: 2010-07-12T02:37:02Z [Term] id: MP:0010228 name: decreased transitional stage T3 B cell number def: "reduced number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive" [PMID:12810111] synonym: "decreased T3 stage B cell number" EXACT [] synonym: "decreased transitional three stage B lymphocyte number" EXACT [] synonym: "decreased transitional three stage B-cell number" EXACT [] synonym: "decreased transitional three stage B-lymphocyte number" EXACT [] synonym: "reduced T3 stage B cell number" EXACT [] synonym: "reduced transitional three stage B lymphocyte number" EXACT [] synonym: "reduced transitional three stage B-cell number" EXACT [] synonym: "reduced transitional three stage B-lymphocyte number" EXACT [] xref: CL:0000960 is_a: MP:0008190 ! decreased transitional stage B cell number is_a: MP:0009921 ! abnormal transitional stage T3 B cell morphology created_by: csmith creation_date: 2010-07-13T11:32:36Z [Term] id: MP:0010229 name: increased transitional stage T3 B cell number def: "greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive" [PMID:12810111] synonym: "increased T3 stage B cell number" EXACT [] synonym: "increased transitional three stage B lymphocyte number" EXACT [] synonym: "increased transitional three stage B-cell number" EXACT [] synonym: "increased transitional three stage B-lymphocyte number" EXACT [] xref: CL:0000960 is_a: MP:0008189 ! increased transitional stage B cell number is_a: MP:0009921 ! abnormal transitional stage T3 B cell morphology created_by: csmith creation_date: 2010-07-13T11:32:54Z [Term] id: MP:0010230 name: absent transitional stage T3 B cells def: "absence of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive" [PMID:12810111] synonym: "absent T3 stage B cells" EXACT [] synonym: "absent transitional three stage B lymphocytes" EXACT [] synonym: "absent transitional three stage B-lymphocytes" EXACT [] synonym: "dabsent transitional three stage B-cells" EXACT [] xref: CL:0000960 is_a: MP:0010228 ! decreased transitional stage T3 B cell number created_by: csmith creation_date: 2010-07-13T11:33:30Z [Term] id: MP:0010231 name: transverse fur striping alt_id: MP:0006360 def: "presence of stripes of pigmented hair, usually black, of variable degree and location in the coat" [MGI:llw2] synonym: "tabby coat" EXACT [] synonym: "transverse coat striping" RELATED [] synonym: "transverse fur markings" EXACT [] is_a: MP:0000372 ! irregular coat pigmentation is_a: MP:0009659 ! striated fur created_by: csmith creation_date: 2010-07-15T03:17:55Z [Term] id: MP:0010232 name: delayed skin pigmentation appearance def: "lag in the time that normal coloration of the skin color occurs in relation to control animals" [MGI:llw2] is_a: MP:0002095 ! abnormal skin pigmentation created_by: csmith creation_date: 2010-07-15T04:01:57Z [Term] id: MP:0010233 name: hairless tail def: "the tail is devoid of hair" [MGI:llw2] synonym: "absent tail hair" EXACT [] synonym: "glabrous tail" EXACT [] is_a: MP:0002111 ! abnormal tail morphology created_by: csmith creation_date: 2010-07-15T04:37:12Z [Term] id: MP:0010234 name: abnormal vibrissa follicle morphology def: "any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species" [MGI:llw2] synonym: "abnormal contour hair follicle morphology" EXACT [] synonym: "abnormal sinus hair follicle morphology" EXACT [] synonym: "abnormal touch hair follicle morphology" EXACT [] is_a: MP:0010678 ! abnormal skin adnexa morphology created_by: csmith creation_date: 2010-07-15T04:39:00Z [Term] id: MP:0010235 name: abnormal retina inner limiting membrane morphology def: "any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal ILM morphology" EXACT [] synonym: "abnormal internal limiting membrane morphology" EXACT [] synonym: "abnormal retina internal limiting lamina morphology" EXACT [] is_a: MP:0001325 ! abnormal retina morphology created_by: csmith creation_date: 2010-07-16T10:38:04Z [Term] id: MP:0010236 name: abnormal retina outer limiting membrane morphology def: "any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal external limiting membrane morphology" RELATED [] synonym: "abnormal OLM morphology" EXACT [] synonym: "abnormal retina external limiting lamina morphology" EXACT [] is_a: MP:0001325 ! abnormal retina morphology created_by: csmith creation_date: 2010-07-16T10:39:10Z [Term] id: MP:0010237 name: abnormal skeletal muscle weight def: "any anomaly in the average skeletal muscle weight" [MGI:csmith] is_a: MP:0004233 ! abnormal muscle weight is_a: MP:0009458 ! abnormal skeletal muscle size created_by: csmith creation_date: 2010-07-19T12:49:29Z [Term] id: MP:0010238 name: increased skeletal muscle weight def: "greater than average skeletal muscle weight" [MGI:csmith] is_a: MP:0003397 ! increased muscle weight is_a: MP:0003398 ! increased skeletal muscle size is_a: MP:0010237 ! abnormal skeletal muscle weight created_by: csmith creation_date: 2010-07-19T01:12:06Z [Term] id: MP:0010239 name: decreased skeletal muscle weight def: "less than average skeletal muscle weight" [MGI:csmith] is_a: MP:0004232 ! decreased muscle weight is_a: MP:0010237 ! abnormal skeletal muscle weight is_a: MP:0010240 ! decreased skeletal muscle size created_by: csmith creation_date: 2010-07-19T01:12:26Z [Term] id: MP:0010240 name: decreased skeletal muscle size def: "less than average dimensions of one or more of the muscles of the skeleton" [MGI:smb] is_a: MP:0004819 ! decreased skeletal muscle mass is_a: MP:0009458 ! abnormal skeletal muscle size created_by: csmith creation_date: 2010-07-19T01:20:35Z [Term] id: MP:0010241 name: abnormal aortic arch development def: "anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery" [ISBN:0-683-40008-8] synonym: "abnormal adult aortic arch development" RELATED [] synonym: "abnormal arch of aorta development" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2010-07-19T03:04:01Z [Term] id: MP:0010242 name: abnormal kidney copper level def: "an anomaly in the amount of copper present in kidney tissue" [MGI:llw2] synonym: "abnormal renal copper level" EXACT [] is_a: MP:0003952 ! abnormal copper level created_by: csmith creation_date: 2010-07-29T12:21:08Z [Term] id: MP:0010243 name: increased kidney copper level def: "a greater accumulation of copper in the kidney tissue compared to controls" [MGI:llw2] synonym: "increased renal copper level" EXACT [] is_a: MP:0010242 ! abnormal kidney copper level created_by: csmith creation_date: 2010-07-29T12:27:15Z [Term] id: MP:0010244 name: decreased kidney copper level def: "a reduced amount of copper in the kidney tissue compared to controls" [MGI:llw2] synonym: "decreased renal copper level" EXACT [] synonym: "reduced kidney copper level" EXACT [] synonym: "reduced renal copper level" EXACT [] is_a: MP:0010242 ! abnormal kidney copper level created_by: csmith creation_date: 2010-07-29T12:27:32Z [Term] id: MP:0010245 name: abnormal spleen perifollicular zone morphology def: "any structural anomaly of the compartment located between the marginal zone and the red pulp harboring scattered B and T lymphocytes" [PMID:11485909, PMID:9415041] comment: Note that there is no consensus in the literature about whether the perifollicular zone (which does not exist in rodents) is part of the splenic red or white pulp. Notable differences in the structure of the spleen exist between humans and rodents. In this ontology, the marginal sinus (which doen not exist in human) has been included as part of the white pulp and may be the rodent functional equivalent of the human perifollicular zone. is_a: MP:0000689 ! abnormal spleen morphology created_by: csmith creation_date: 2010-07-29T01:22:05Z [Term] id: MP:0010246 name: abnormal intestine copper level def: "an anomaly in the amount of copper present in the intestine" [MGI:llw2] is_a: MP:0003952 ! abnormal copper level created_by: csmith creation_date: 2010-07-29T02:44:25Z [Term] id: MP:0010247 name: increased intestine copper level def: "a greater accumulation of copper in intestinal tissue compared with controls" [MGI:llw2] is_a: MP:0010246 ! abnormal intestine copper level created_by: csmith creation_date: 2010-07-29T02:45:01Z [Term] id: MP:0010248 name: decreased intestine copper level def: "a reduced amount of copper in the intestinal tissue compared to controls" [MGI:llw2] synonym: "reduced intestine copper level" EXACT [] is_a: MP:0010246 ! abnormal intestine copper level created_by: csmith creation_date: 2010-07-29T02:45:26Z [Term] id: MP:0010249 name: lactation failure def: "mammary glands do not secrete milk after parturition" [MGI:llw2] synonym: "agalactia" EXACT [] synonym: "agalactorrhea" EXACT [] synonym: "agalactosis" EXACT [] is_a: MP:0001882 ! abnormal lactation created_by: csmith creation_date: 2010-07-29T03:30:02Z [Term] id: MP:0010250 name: absent thymus cortex def: "lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes" [MGI:llw2] is_a: MP:0002371 ! abnormal thymus cortex morphology created_by: csmith creation_date: 2010-07-29T03:39:18Z [Term] id: MP:0010251 name: subcapsular cataracts def: "a lens opacity localized beneath the anterior or posterior lens capsule" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "subcapsular opacity" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:42:20Z [Term] id: MP:0010252 name: anterior subcapsular cataracts def: "a lens opacity localized beneath the anterior lens capsule" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "anterior subcapsular opacity" EXACT [] is_a: MP:0010251 ! subcapsular cataracts created_by: csmith creation_date: 2010-07-30T01:42:40Z [Term] id: MP:0010253 name: posterior subcapsular cataracts def: "a lens opacity localized beneath the posterior lens capsule" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] subset: Sanger_Terms synonym: "posterior subcapsular opacity" EXACT [] is_a: MP:0010251 ! subcapsular cataracts created_by: csmith creation_date: 2010-07-30T01:43:01Z [Term] id: MP:0010254 name: nuclear cataracts def: "a lens opacity located in the dense, central part of the lens" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "hard cataracts" EXACT [] synonym: "nuclear opacity" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:43:19Z [Term] id: MP:0010255 name: cortical cataracts def: "a lens opacity, frequently punctate, affecting the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "cortical opacity" EXACT [] synonym: "peripheral cataracts" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:43:33Z [Term] id: MP:0010256 name: anterior cortical cataracts def: "a lens opacity, frequently punctate, affecting the anterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "anterior cortical opacity" EXACT [] synonym: "anterior peripheral cataracts" EXACT [] is_a: MP:0010255 ! cortical cataracts created_by: csmith creation_date: 2010-07-30T01:43:44Z [Term] id: MP:0010257 name: posterior cortical cataracts def: "a lens opacity, frequently punctate, affecting the posterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "posterior cortical opacity" EXACT [] synonym: "posterior peripheral cataracts" EXACT [] is_a: MP:0010255 ! cortical cataracts created_by: csmith creation_date: 2010-07-30T01:44:09Z [Term] id: MP:0010258 name: polar cataracts def: "a lens opacity, usually disk-shaped, that is limited to an area in the anterior or posterior pole of the lens capsular region" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "polar opacity" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:44:36Z [Term] id: MP:0010259 name: anterior polar cataracts def: "a lens opacity, usually disk-shaped, that is limited to an area in the anterior pole of the lens capsular region" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "anterior polar opacity" EXACT [] is_a: MP:0010258 ! polar cataracts created_by: csmith creation_date: 2010-07-30T01:44:47Z [Term] id: MP:0010260 name: posterior polar cataracts def: "a lens opacity, usually disk-shaped, that is limited to an area in the posterior pole of the lens capsular region" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "posterior polar opacity" EXACT [] is_a: MP:0010258 ! polar cataracts created_by: csmith creation_date: 2010-07-30T01:45:00Z [Term] id: MP:0010261 name: sutural cataracts def: "a lens opacity which follows the shape of anterior or posterior Y suture of the fetal lens and is not progressive; often more severe in males and is congenital, but usually does not affect vision" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "sutural opacity" EXACT [] synonym: "suture cataracts" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:45:29Z [Term] id: MP:0010262 name: lamellar cataracts def: "a concentric lens opacity which is limited to layers of the cortex, affecting one lamella or zonule of an otherwise clear lens; usually congenital" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "lamellar opacity" EXACT [] synonym: "zonular cataracts" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:45:59Z [Term] id: MP:0010263 name: total cataracts def: "a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital" [ISBN:0-683-40008-8, ISBN:978-0-8493-0864-2] synonym: "complete cataracts" EXACT [] synonym: "total lens opacity" EXACT [] is_a: MP:0001304 ! cataracts created_by: csmith creation_date: 2010-07-30T01:46:30Z [Term] id: MP:0010264 name: increased hepatoma incidence alt_id: MP:0002028 alt_id: MP:0002889 def: "greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period" [MGI:csmith] synonym: "decreased resistance to hepatoma" EXACT [] synonym: "increased malignant liver tumor incidence" EXACT [] synonym: "increased susceptibility to hepatoma" EXACT [] is_a: MP:0008019 ! increased liver tumor incidence created_by: csmith creation_date: 2010-08-03T10:36:22Z [Term] id: MP:0010265 name: decreased hepatoma incidence alt_id: MP:0002890 def: "less than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to hepatoma" EXACT [] synonym: "hepatoma resistance" EXACT [] synonym: "increased resistance to hepatoma" EXACT [] is_a: MP:0010266 ! decreased liver tumor incidence created_by: csmith creation_date: 2010-08-03T10:44:04Z [Term] id: MP:0010266 name: decreased liver tumor incidence alt_id: MP:0005513 def: "less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to liver neoplasm" EXACT [] synonym: "decreased susceptibility to liver tumor" EXACT [] synonym: "increased resistance to liver neoplasm" EXACT [] synonym: "increased resistance to liver tumor" EXACT [] is_a: MP:0010282 ! decreased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T10:47:13Z [Term] id: MP:0010267 name: decreased lung tumor incidence alt_id: MP:0003640 def: "less than the expected number of neoplams in the lung, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to lung neoplasm" EXACT [] synonym: "increased resistance to lung neoplasm" EXACT [] is_a: MP:0010282 ! decreased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T12:16:39Z [Term] id: MP:0010268 name: decreased lymphoma incidence alt_id: MP:0003000 def: "less than the expected number of neoplasms derived from lymphoid tissue in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to lymphoma" EXACT [] synonym: "increased resistance to lymphoma" EXACT [] is_a: MP:0010283 ! decreased classified tumor incidence created_by: csmith creation_date: 2010-08-03T12:24:28Z [Term] id: MP:0010269 name: decreased mammary gland tumor incidence alt_id: MP:0005512 def: "less than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to mammary neoplasm" EXACT [] synonym: "decreased susceptibility to mammary tumor" EXACT [] synonym: "increased resistance to mammary neoplasm" EXACT [] synonym: "increased resistance to mammary tumor" EXACT [] is_a: MP:0010282 ! decreased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T12:33:31Z [Term] id: MP:0010270 name: decreased stomach tumor incidence alt_id: MP:0003170 def: "less than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to gastric tumor" EXACT [] synonym: "decreased susceptibility to stomach tumor" EXACT [] synonym: "increased resistance to gastric tumor" EXACT [] synonym: "increased resistance to stomach tumor" EXACT [] is_a: MP:0010282 ! decreased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T12:37:15Z [Term] id: MP:0010271 name: decreased tongue tumor incidence alt_id: MP:0005511 def: "less than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "decreased susceptibility to tongue neoplasm" EXACT [] synonym: "decreased susceptibility to tongue tumor" EXACT [] synonym: "increased resistance to tongue neoplasm" EXACT [] synonym: "increased resistance to tongue tumor" EXACT [] is_a: MP:0010282 ! decreased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T12:38:38Z [Term] id: MP:0010272 name: increased tongue tumor incidence alt_id: MP:0005509 def: "greater than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "tongue neoplasm" EXACT [] is_a: MP:0003750 ! increased mouth tumor incidence created_by: csmith creation_date: 2010-08-03T12:39:51Z [Term] id: MP:0010273 name: increased classified tumor incidence def: "greater than the expected number of tumors with a specific classification type in a given population in a given time period" [MGI:csmith] synonym: "increased tumor type incidence" EXACT [] is_a: MP:0002020 ! increased tumor incidence created_by: csmith creation_date: 2010-08-03T02:32:43Z [Term] id: MP:0010274 name: increased organ/body region tumor incidence def: "greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period" [MGI:csmith] is_a: MP:0002020 ! increased tumor incidence created_by: csmith creation_date: 2010-08-03T02:33:47Z [Term] id: MP:0010275 name: increased melanoma incidence def: "greater than the expected number of malignant neoplasms, derived from melanocytes and occuring in pigmented tissues, in a specific population in a given time period" [ISBN:0-683-40008-8] is_a: MP:0002018 ! malignant tumors created_by: csmith creation_date: 2010-08-03T02:43:31Z [Term] id: MP:0010276 name: increased intraocular melanoma incidence alt_id: MP:0006247 def: "greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the uvea of the eye, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "increased uvea melanoma incidence" RELATED [] synonym: "increased uveal melanoma incidence" EXACT [] is_a: MP:0010275 ! increased melanoma incidence is_a: MP:0010302 ! increased uvea tumor incidence created_by: csmith creation_date: 2010-08-03T02:46:07Z [Term] id: MP:0010277 name: increased astrocytoma incidence def: "greater than the expected number of tumors that arise from astrocytes, large neuroglia cells of nervous tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0010278 ! increased glioma incidence created_by: csmith creation_date: 2010-08-03T03:06:34Z [Term] id: MP:0010278 name: increased glioma incidence def: "greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0010281 ! increased nervous system tumor incidence created_by: csmith creation_date: 2010-08-03T03:08:00Z [Term] id: MP:0010279 name: increased gastrointestinal tumor incidence def: "greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period" [MGI:csmith] synonym: "increased gastrointestinal tract neoplasia incidence" EXACT [] is_a: MP:0010292 ! increased alimentary system tumor incidence created_by: csmith creation_date: 2010-08-03T03:18:01Z [Term] id: MP:0010280 name: increased skeletal tumor incidence def: "greater than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T03:28:52Z [Term] id: MP:0010281 name: increased nervous system tumor incidence def: "greater than the expected number of tumors originating in the nervous system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T03:37:02Z [Term] id: MP:0010282 name: decreased organ/body region tumor incidence def: "less than the expected number of tumors originating in a specific body region or organ in a given population in a given time period" [MGI:csmith] synonym: "reduced organ/body region tumor incidence" EXACT [] is_a: MP:0002052 ! decreased tumor incidence created_by: csmith creation_date: 2010-08-03T03:40:31Z [Term] id: MP:0010283 name: decreased classified tumor incidence def: "less than the expected number of tumors with a specific classification type in a given population in a given time period" [MGI:csmith] is_a: MP:0002052 ! decreased tumor incidence created_by: csmith creation_date: 2010-08-03T03:42:26Z [Term] id: MP:0010284 name: decreased plasmacytoma incidence def: "less han the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased plasma cell lymphoma incidence" EXACT [] synonym: "increased resistance to plasmacytoma" EXACT [] synonym: "plasmacytoma resistance" RELATED [] synonym: "reduced plasmacytoma incidence" EXACT [] is_a: MP:0010283 ! decreased classified tumor incidence created_by: csmith creation_date: 2010-08-03T03:47:13Z [Term] id: MP:0010285 name: decreased skin tumor incidence def: "less than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010282 ! decreased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T03:50:04Z [Term] id: MP:0010286 name: increased plasmacytoma incidence alt_id: MP:0005233 def: "greater than the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased plasma cell lymphoma incidence" EXACT [] synonym: "increased plasmacytoma susceptibility" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence created_by: csmith creation_date: 2010-08-03T04:09:30Z [Term] id: MP:0010287 name: increased reproductive system tumor incidence def: "greater than the expected number of tumors originating in the reproductive system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-03T04:37:41Z [Term] id: MP:0010288 name: increased gland tumor incidence def: "greater than the expected number of tumors originating in a gland in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T09:38:21Z [Term] id: MP:0010289 name: increased urinary system tumor incidence def: "greater than the expected number of tumors originating in the urinary system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T09:41:22Z [Term] id: MP:0010290 name: increased muscle tumor incidence def: "greater than the expected number of tumors originating in a gland in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T09:50:15Z [Term] id: MP:0010291 name: increased cardiovascular system tumor incidence def: "greater than the expected number of tumors originating in the cardiovascular system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T09:55:03Z [Term] id: MP:0010292 name: increased alimentary system tumor incidence def: "greater than the expected number of tumors originating in the alimentary system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T09:56:49Z [Term] id: MP:0010293 name: increased integument system tumor incidence def: "greater than the expected number of tumors originating in the integument system in a given population in a given time period" [MGI:csmith] synonym: "increased integument tumor incidence" EXACT [] synonym: "increased integumentary system tumor incidence" EXACT [] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T11:22:45Z [Term] id: MP:0010294 name: increased kidney tumor incidence def: "greater than the expected number of tumors originating in the kidney in a given population in a given time period" [MGI:csmith] synonym: "increased renal tumor incidence" EXACT [] is_a: MP:0010289 ! increased urinary system tumor incidence created_by: csmith creation_date: 2010-08-04T11:26:45Z [Term] id: MP:0010295 name: increased eye tumor incidence alt_id: MP:0006178 def: "greater than the expected number of tumors originating in the eye in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T01:49:09Z [Term] id: MP:0010296 name: increased hemolymphoid system tumor incidence def: "greater than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period" [MGI:csmith] synonym: "increased hemolymphoid tumor incidence" EXACT [] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T01:52:10Z [Term] id: MP:0010297 name: increased hepatobiliary system tumor incidence def: "greater than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T01:54:12Z [Term] id: MP:0010298 name: increased respiratory system tumor incidence def: "greater than the expected number of tumors originating in the urinary system in a given population in a given time period" [MGI:csmith] is_a: MP:0010274 ! increased organ/body region tumor incidence created_by: csmith creation_date: 2010-08-04T02:00:11Z [Term] id: MP:0010299 name: increased mammary gland tumor incidence alt_id: MP:0006318 def: "greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "increased susceptibility to mammary neoplasm" EXACT [] is_a: MP:0010288 ! increased gland tumor incidence is_a: MP:0010293 ! increased integument system tumor incidence created_by: csmith creation_date: 2010-08-04T02:12:02Z [Term] id: MP:0010300 name: increased skin tumor incidence alt_id: MP:0005276 def: "greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0010293 ! increased integument system tumor incidence created_by: csmith creation_date: 2010-08-04T02:14:15Z [Term] id: MP:0010301 name: increased stomach tumor incidence alt_id: MP:0006079 def: "greater than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "increased gastric tumor incidence" EXACT [] synonym: "increased susceptibility to gastric tumor" EXACT [] is_a: MP:0010279 ! increased gastrointestinal tumor incidence created_by: csmith creation_date: 2010-08-04T02:16:45Z [Term] id: MP:0010302 name: increased uvea tumor incidence alt_id: MP:0006246 def: "greater than the expected number of neoplasms in the uvea, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "increased uveal tumor incidence" EXACT [] synonym: "tumor of uvea" EXACT [] is_a: MP:0010295 ! increased eye tumor incidence created_by: csmith creation_date: 2010-08-04T02:21:01Z [Term] id: MP:0010303 name: increased retina tumor incidence alt_id: MP:0006181 def: "greater than the expected number of neoplasms in the retina, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] synonym: "increased retinal tumor incidence" EXACT [] is_a: MP:0010295 ! increased eye tumor incidence created_by: csmith creation_date: 2010-08-04T02:22:59Z [Term] id: MP:0010304 name: increased choroid tumor incidence alt_id: MP:0006179 def: "greater than the expected number of neoplasms in the choroid of the eye, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010302 ! increased uvea tumor incidence created_by: csmith creation_date: 2010-08-04T02:48:07Z [Term] id: MP:0010305 name: increased iris tumor incidence alt_id: MP:0006231 def: "greater than the expected number of neoplasms in the iris of the eye, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010302 ! increased uvea tumor incidence created_by: csmith creation_date: 2010-08-04T02:48:26Z [Term] id: MP:0010306 name: increased hamartoma incidence alt_id: MP:0006381 def: "greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0010273 ! increased classified tumor incidence created_by: csmith creation_date: 2010-08-04T03:07:48Z [Term] id: MP:0010307 name: abnormal tumor latency def: "anomaly in the expected time of onset of tumor occurrence" [MGI:csmith] is_a: MP:0002166 ! altered tumor susceptibility created_by: csmith creation_date: 2010-08-04T03:22:09Z [Term] id: MP:0010308 name: decreased tumor latency def: "earlier onset of tumor occurrence than expected" [MGI:csmith] synonym: "accelerated tumor appearance" EXACT [] is_a: MP:0010307 ! abnormal tumor latency created_by: csmith creation_date: 2010-08-04T03:31:51Z [Term] id: MP:0010309 name: increased mesothelioma incidence def: "greater than the expected number of neoplasms derived from the lining cells of the pleura and peritoneum, in a specific population in a given time period; is composed of spindle cells or fibrous tissue which may enclose glandlike spaces lined by cuboidal cells" [ISBN:0-683-40008-8] is_a: MP:0010273 ! increased classified tumor incidence created_by: csmith creation_date: 2010-08-04T03:43:38Z [Term] id: MP:0010310 name: increased Schwannoma incidence def: "greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; usually associated with a peripheral or cranial nerve" [ISBN:0-683-40008-8] synonym: "increased neurilemoma incidence" EXACT [] synonym: "increased neuroschwannoma incidence" EXACT [] synonym: "increased Schwann cell tumor incidence" EXACT [] is_a: MP:0010281 ! increased nervous system tumor incidence created_by: csmith creation_date: 2010-08-04T03:48:28Z [Term] id: MP:0010311 name: increased meningioma incidence def: "greater than the expected number of encapsulated neoplasms derived from the meninges, in a specific population in a given time period" [MGI:csmith] comment: Meningiomas may be malignant or benign. is_a: MP:0010281 ! increased nervous system tumor incidence created_by: csmith creation_date: 2010-08-04T03:55:34Z [Term] id: MP:0010312 name: increased oligodendroglioma incidence def: "greater than the expected number of encapsulated neoplasms derived from oligodendrocytes, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010278 ! increased glioma incidence created_by: csmith creation_date: 2010-08-04T03:59:02Z [Term] id: MP:0010313 name: increased osteoma incidence def: "greater than the expected number of benign neoplasms derived from lamellar bone, in a specific population in a given time period" [MGI:csmith] is_a: MP:0010280 ! increased skeletal tumor incidence created_by: csmith creation_date: 2010-08-04T04:06:58Z [Term] id: MP:0010314 name: increased neurofibroma incidence def: "greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased fibroneuroma incidence" EXACT [] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0010281 ! increased nervous system tumor incidence created_by: csmith creation_date: 2010-08-04T04:09:33Z [Term] id: MP:0010315 name: increased cholangiocarcinoma incidence def: "greater than the expected number of malignant adenocarcimomas arising in the intrahepatic bile duct epithelium, in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002038 ! carcinoma is_a: MP:0010297 ! increased hepatobiliary system tumor incidence created_by: csmith creation_date: 2010-08-04T04:15:41Z [Term] id: MP:0010316 name: increased thyroid tumor incidence def: "greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0010288 ! increased gland tumor incidence created_by: csmith creation_date: 2010-08-04T04:45:38Z [Term] id: MP:0010317 name: increased parotid gland tumor incidence def: "greater than the expected number of neoplams in the parotid gland occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0010318 ! increased salivary gland tumor incidence created_by: csmith creation_date: 2010-08-04T04:48:31Z [Term] id: MP:0010318 name: increased salivary gland tumor incidence def: "greater than the expected number of neoplams in the salivary gland occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0003750 ! increased mouth tumor incidence is_a: MP:0010288 ! increased gland tumor incidence created_by: csmith creation_date: 2010-08-04T04:49:44Z [Term] id: MP:0010319 name: increased submandibular gland tumor incidence def: "greater than the expected number of neoplams in the submandibular gland occurring in a specific population in a given time period" [MGI:csmith] synonym: "increased submaxillary gland tumor incidence" EXACT [] is_a: MP:0010318 ! increased salivary gland tumor incidence created_by: csmith creation_date: 2010-08-04T04:50:30Z [Term] id: MP:0010320 name: increased pituitary gland tumor incidence def: "greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0010281 ! increased nervous system tumor incidence is_a: MP:0010288 ! increased gland tumor incidence created_by: csmith creation_date: 2010-08-09T11:09:33Z [Term] id: MP:0010321 name: increased parathyroid gland tumor incidence def: "greater than the expected number of neoplams in the parathyroid gland occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0010288 ! increased gland tumor incidence created_by: csmith creation_date: 2010-08-09T11:53:58Z [Term] id: MP:0010322 name: increased cutaneous melanoma incidence def: "greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased skin melanoma incidence" EXACT [] is_a: MP:0010275 ! increased melanoma incidence is_a: MP:0010300 ! increased skin tumor incidence created_by: csmith creation_date: 2010-08-09T12:11:40Z [Term] id: MP:0010323 name: retropulsion alt_id: MP:0005420 def: "a tendency to step or walk backwards" [MGI:csmith] synonym: "backward walking" EXACT [] synonym: "walking backwards" EXACT [] is_a: MP:0003313 ! abnormal locomotor activation created_by: csmith creation_date: 2010-08-09T03:38:51Z [Term] id: MP:0010324 name: abnormal malleus processus brevis morphology def: "any structural anomaly of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule" [MGI:csmith, PMID:12701100] synonym: "abnormal malleal processus brevis morphology" EXACT [] is_a: MP:0000029 ! abnormal malleus morphology created_by: csmith creation_date: 2010-08-13T12:17:58Z [Term] id: MP:0010325 name: abnormal malleus head morphology def: "any structural anomaly of the rounded portion of the malleus articulating with the body of the incus" [MGI:csmith] synonym: "abnormal caput mallei morphology" EXACT [] synonym: "abnormal head of malleus morphology" EXACT [] is_a: MP:0000029 ! abnormal malleus morphology created_by: csmith creation_date: 2010-08-13T12:21:18Z [Term] id: MP:0010326 name: malleus hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the largest of the three auditory ossicles, which resembles a club or hammer" [ISBN:0-683-40008-8] synonym: "malleal hypoplasia" EXACT [] is_a: MP:0008372 ! small malleus created_by: csmith creation_date: 2010-08-13T01:10:43Z [Term] id: MP:0010327 name: abnormal malleus neck morphology def: "any structural anomaly of the narrow contracted section of the malleus located between the head and the manubrium" [MGI:csmith] synonym: "abnormal collum mallei morphology" EXACT [] synonym: "abnormal malleal neck morphology" EXACT [] synonym: "abnormal neck of malleus morphology" EXACT [] is_a: MP:0000029 ! abnormal malleus morphology created_by: csmith creation_date: 2010-08-13T01:12:28Z [Term] id: MP:0010328 name: thin malleus neck def: "smaller diameter of the narrow contracted section of the malleus located between the head and the manubrium" [MGI:csmith] synonym: "thin collum mallei" EXACT [] synonym: "thin malleal neck" EXACT [] synonym: "thin neck of malleus" EXACT [] is_a: MP:0010327 ! abnormal malleus neck morphology created_by: csmith creation_date: 2010-08-13T01:19:19Z [Term] id: MP:0010329 name: abnormal lipoprotein level def: "any anomaly in the concentrations of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport" [ISBN:0-683-40008-8] is_a: MP:0001764 ! abnormal homeostasis created_by: csmith creation_date: 2010-08-13T01:40:14Z [Term] id: MP:0010330 name: abnormal circulating lipoprotein level def: "any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport" [ISBN:0-683-40008-8] is_a: MP:0009642 ! abnormal blood homeostasis is_a: MP:0010329 ! abnormal lipoprotein level created_by: csmith creation_date: 2010-08-13T01:40:33Z [Term] id: MP:0010331 name: abnormal apolipoprotein level def: "anomaly in the amount of the a protein that is frequently a component of a lipoprotein complex" [ISBN:0-683-40008-8] is_a: MP:0008469 ! abnormal protein level created_by: csmith creation_date: 2010-08-13T01:41:00Z [Term] id: MP:0010332 name: abnormal circulating apolipoprotein level def: "anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex" [ISBN:0-683-40008-8] is_a: MP:0005416 ! abnormal circulating protein level is_a: MP:0010331 ! abnormal apolipoprotein level created_by: csmith creation_date: 2010-08-13T01:41:17Z [Term] id: MP:0010333 name: abnormal circulating apolipoprotein E level def: "anomaly in the amount in the blood of a protein that is frequently a component of a VLDL, HDL, and chylomicron complexes, and functions in cholesterol transport" [ISBN:0-683-40008-8] synonym: "abnormal circulating ApoE level" EXACT [] synonym: "abnormal serum ApoE level" NARROW [] is_a: MP:0010332 ! abnormal circulating apolipoprotein level created_by: csmith creation_date: 2010-08-13T02:39:42Z [Term] id: MP:0010334 name: pleural effusion def: "accumulation of excess fluid in the pleural cavity" [MGI:csmith] synonym: "hydrothorax" EXACT [] is_a: MP:0001784 ! abnormal fluid regulation is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2010-08-13T03:49:42Z [Term] id: MP:0010335 name: fused first branchial arch def: "the first arch fails to fully divide along the midline" [MGI:smb] synonym: "fused first pharyngeal arch" EXACT [] is_a: MP:0006337 ! abnormal first branchial arch morphology created_by: csmith creation_date: 2010-08-13T03:56:00Z [Term] id: MP:0010336 name: increased acute lymphoblastic leukemia incidence synonym: "increased ALL incidence" EXACT [] is_a: MP:0002026 ! leukemia created_by: csmith creation_date: 2010-08-13T04:20:14Z [Term] id: MP:0010337 name: increased chronic lymphocytic leukemia incidence synonym: "increased CLL incidence" EXACT [] is_a: MP:0002026 ! leukemia created_by: csmith creation_date: 2010-08-13T04:22:38Z [Term] id: MP:0010338 name: increased desmoid tumor incidence def: "greater than the expected number of a monoclonal, fibroblastic proliferation arising in musculoaponeurotic structures in a specific population in a given time period; this connective tissue hyperplasia infiltrates locally, recurs frequently after resection but does not metastasize; this tumor may occur at the site of any fascia, but in particular in muscle" [PMID:18023087] synonym: "aggressive fibromatosis" EXACT [] synonym: "musculo-aponeurotic fibromatosis" EXACT [] is_a: MP:0003580 ! increased fibroma incidence created_by: csmith creation_date: 2010-08-16T01:30:51Z [Term] id: MP:0010339 name: increased cardiac fibroma incidence def: "greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the cardiac tissue, in a specific population in a given time period" [MGI:csmith] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0010291 ! increased cardiovascular system tumor incidence created_by: csmith creation_date: 2010-08-16T01:44:36Z [Term] id: MP:0010340 name: increased lung fibroma incidence def: "greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the lung, in a specific population in a given time period" [MGI:csmith] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0008014 ! increased lung tumor incidence created_by: csmith creation_date: 2010-08-16T01:44:58Z [Term] id: MP:0010341 name: increased mammary gland fibroma incidence def: "greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the mammary gland, in a specific population in a given time period" [MGI:csmith] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0010299 ! increased mammary gland tumor incidence created_by: csmith creation_date: 2010-08-16T01:45:21Z [Term] id: MP:0010342 name: increased facial angiofibroma incidence def: "greater than the expected number of a benign tumor of fibrous or fully developed connective tissue on the face, in a specific population in a given time period; appear as red or yellow papules containing dilated vascular channels" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased adenoma sebaceum incidence" EXACT [] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0008018 ! increased facial tumor incidence created_by: csmith creation_date: 2010-08-16T01:45:42Z [Term] id: MP:0010343 name: increased lipoma incidence def: "greater than the expected number of a benign neoplasia derived from lipoblasts or lipocytes of white or brown fat, occurring in a specific population in a given time period" [MPATH:417] is_a: MP:0010273 ! increased classified tumor incidence created_by: csmith creation_date: 2010-08-16T03:15:31Z [Term] id: MP:0010344 name: increased hibernoma incidence def: "greater than the expected number of a benign neoplasm derived from brown fat occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased brown adipose tissue tumor incidence" EXACT [] is_a: MP:0010343 ! increased lipoma incidence created_by: csmith creation_date: 2010-08-16T03:21:08Z [Term] id: MP:0010345 name: increased thyroid C-cell carcinoma incidence def: "greater than the expected number of a malignant neoplasm derived from the calcitonin producing C-cells of the thyroid gland, occurring in a specific population in a given time period" [MPATH:308] synonym: " increased C cell thyroid carcinoma incidence" EXACT [] synonym: " increased C-cell thyroid carcinoma incidence" EXACT [] synonym: "increased thyroid C cell carcinoma incidence" EXACT [] synonym: "increased thyroid medullary carcinoma incidence" RELATED [] synonym: "increased thyroid parafollicular carcinoma incidence" EXACT [] synonym: "increased thyroid parafollicular cell carcinoma incidence" EXACT [] is_a: MP:0010346 ! increased thyroid carcinoma incidence created_by: csmith creation_date: 2010-08-16T03:27:47Z [Term] id: MP:0010346 name: increased thyroid carcinoma incidence def: "greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0002038 ! carcinoma is_a: MP:0010316 ! increased thyroid tumor incidence created_by: csmith creation_date: 2010-08-16T03:39:28Z [Term] id: MP:0010347 name: osseous metaplasia def: "the formation of mature bone elements in the stroma of a neoplasm" [MGI:csmith] is_a: MP:0003448 ! altered tumor morphology created_by: csmith creation_date: 2010-08-16T03:44:14Z [Term] id: MP:0010348 name: increased pancreatic islet cell carcinoma incidence def: "greater than the expected number of malignant neoplasms arising in the pancreatic islet cells, occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0002038 ! carcinoma is_a: MP:0009153 ! increased pancreas tumor incidence created_by: csmith creation_date: 2010-08-16T03:52:50Z [Term] id: MP:0010349 name: increased teratocarcinoma incidence def: "greater than the expected number of a mixed germ cell neoplasm contaning elements of embryonal carcinoma and teratoma, occurring in a specific population in a given time period" [MPATH:321] is_a: MP:0002038 ! carcinoma is_a: MP:0002627 ! teratoma created_by: csmith creation_date: 2010-08-16T04:17:08Z [Term] id: MP:0010350 name: increased pituitary adenohypophysis tumor incidence def: "greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period" [MGI:csmith] synonym: "increased pituitary anterior lobe tumor incidence" EXACT [] is_a: MP:0010320 ! increased pituitary gland tumor incidence created_by: csmith creation_date: 2010-08-16T04:30:36Z [Term] id: MP:0010351 name: increased pituitary melanotroph tumor incidence def: "greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC)" [CL:0000440, MGI:csmith] synonym: "increased pituitary intermediate lobe tumor incidence" RELATED [] is_a: MP:0010320 ! increased pituitary gland tumor incidence created_by: csmith creation_date: 2010-08-16T04:31:02Z [Term] id: MP:0010352 name: gastrointestinal tract polyps def: "abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract" [MGI:csmith] is_a: MP:0000462 ! abnormal digestive system morphology created_by: csmith creation_date: 2010-08-16T04:42:57Z [Term] id: MP:0010353 name: increased odontoma incidence def: "greater than the expected number of a hamartomatous odontogenic tumor composed of enamel, dentin, cementum, and pulp tissue that may or may not be arranged in the form of a tooth, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] is_a: MP:0010273 ! increased classified tumor incidence created_by: csmith creation_date: 2010-08-16T04:46:28Z [Term] id: MP:0010354 name: increased odontosarcoma incidence def: "greater than the expected number of an a gnathic malignant connective tissue tumor in which the epithelial component is benign and the proliferative mesenchymal component is malignant, occurring in a specific population in a given time period" [MGI:csmith, PMID:10587276] synonym: "increased ameloblastic fibro-odontosarcoma incidence" EXACT [] synonym: "increased ameloblastic odontosarcoma incidence" EXACT [] synonym: "increased odontogenic sarcoma incidence" EXACT [] is_a: MP:0002032 ! sarcoma is_a: MP:0010353 ! increased odontoma incidence created_by: csmith creation_date: 2010-08-16T04:50:24Z [Term] id: MP:0010355 name: abnormal first branchial arch artery morphology def: "any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis" [MGI:csmith] synonym: "abnormal first aortic arch morphology" EXACT [] synonym: "abnormal first PAA" EXACT [] synonym: "abnormal first pharyngeal arch artery morphology" EXACT [] is_a: MP:0002672 ! abnormal branchial arch artery morphology is_a: MP:0006337 ! abnormal first branchial arch morphology created_by: csmith creation_date: 2010-08-17T11:54:12Z [Term] id: MP:0010356 name: abnormal second branchial arch artery morphology def: "any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis" [MGI:csmith] synonym: "abnormal second aortic arch morphology" EXACT [] synonym: "abnormal second PAA" EXACT [] synonym: "abnormal second pharyngeal arch artery morphology" EXACT [] is_a: MP:0002672 ! abnormal branchial arch artery morphology is_a: MP:0006338 ! abnormal second branchial arch morphology created_by: csmith creation_date: 2010-08-17T11:54:12Z [Term] id: MP:0010357 name: increased prostate gland tumor incidence alt_id: MP:0003831 def: "greater than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period" [MGI:csmith] synonym: "prostate tumor" EXACT [] is_a: MP:0010287 ! increased reproductive system tumor incidence is_a: MP:0010288 ! increased gland tumor incidence created_by: csmith creation_date: 2010-08-17T12:47:29Z [Term] id: MP:0010358 name: abnormal free fatty acids level def: "any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues" [ISBN:0-683-40008-8] synonym: "abnormal FFA level" EXACT [] synonym: "abnormal non-esterified fatty acids level" EXACT [] is_a: MP:0005280 ! abnormal fatty acid level created_by: csmith creation_date: 2010-08-18T11:05:18Z [Term] id: MP:0010359 name: increased liver free fatty acids level def: "elevated liver concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues" [ISBN:0-683-40008-8] synonym: "increased hepatic free fatty acids level" EXACT [] is_a: MP:0005281 ! increased fatty acid level is_a: MP:0010358 ! abnormal free fatty acids level created_by: csmith creation_date: 2010-08-18T11:06:02Z [Term] id: MP:0010360 name: decreased liver free fatty acids level def: "reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues" [ISBN:0-683-40008-8] synonym: "decreased hepatic free fatty acids level" EXACT [] synonym: "reduced hepatic free fatty acids level" EXACT [] synonym: "reduced liver free fatty acids level" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0005282 ! decreased fatty acid level is_a: MP:0010358 ! abnormal free fatty acids level created_by: csmith creation_date: 2010-08-18T11:06:34Z [Term] id: MP:0010361 name: increased gangliosarcoma incidence def: "greater than the expected number of a highly aggressive malignant neoplasm arising from mature ganglionic neurons, in a specific population in a given time period" [MGI:csmith] synonym: "increased ganglioneurosarcoma incidence" EXACT [] is_a: MP:0010281 ! increased nervous system tumor incidence created_by: csmith creation_date: 2010-08-19T10:10:15Z [Term] id: MP:0010362 name: increased ganglioneuroma incidence def: "greater than the expected number of a benign neoplasm composed of mature ganglionic neurons in a given population in a given time period; cells may be scattered singly or in clumps within a relatively abundant and dense stroma of neurofibrils and collagenous fibers" [MPATH:375] is_a: MP:0010281 ! increased nervous system tumor incidence created_by: csmith creation_date: 2010-08-19T10:11:35Z [Term] id: MP:0010363 name: increased fibrosarcoma incidence alt_id: MP:0002029 def: "greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "increased fibroblastic sarcoma incidence" EXACT [] is_a: MP:0002032 ! sarcoma created_by: csmith creation_date: 2010-08-19T10:31:47Z [Term] id: MP:0010364 name: increased fibroadenoma incidence alt_id: MP:0003343 def: "greater than the expected number of a benign mammary gland tumor composed of both fibrous tissue and glandular tissue, in a specific population in a given time period" [CDR:523438] synonym: "increased breast fibroadenoma incidence" EXACT [] synonym: "increased mammary gland fibroadenoma incidence" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010299 ! increased mammary gland tumor incidence created_by: csmith creation_date: 2010-08-19T10:45:18Z [Term] id: MP:0010365 name: increased thymus tumor incidence def: "greater than the expected number of neoplams in the thymus occurring in a specific population in a given time period" [MGI:csmith] synonym: "increased thymic tumor incidence" EXACT [] is_a: MP:0010288 ! increased gland tumor incidence created_by: csmith creation_date: 2010-08-26T03:38:42Z [Term] id: MP:0010366 name: increased adrenal cortical tumor incidence def: "greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period" [MGI:csmith] is_a: MP:0002031 ! increased adrenal gland tumor incidence created_by: csmith creation_date: 2010-08-26T03:42:09Z [Term] id: MP:0010367 name: increased spindle cell carcinoma incidence def: "greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle shape cells with sarcomatous appearance" [PMID:19040765] synonym: "increased pseudosarcoma incidence" EXACT [] synonym: "increased sarcomatoid carcinoma incidence" EXACT [] synonym: "increased SpCC incidence" EXACT [] is_a: MP:0002038 ! carcinoma created_by: csmith creation_date: 2010-08-26T03:54:01Z [Term] id: MP:0010368 name: abnormal lymphatic system physiology def: "any functional anomaly of the interconnected system of spaces, organs and vessels between body tissues and organs through which fluid, fats, proteins, and lymphocytes are transported to the bloodstream as lymph, and microorganisms and other debris are removed from tissues" [MGI:csmith] synonym: "abnormal lymph system physiology" EXACT [] synonym: "abnormal lymphoid system physiology" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology created_by: csmith creation_date: 2010-08-27T09:42:10Z [Term] id: MP:0010369 name: abnormal thalamus neuron morphology def: "any structural anomaly of the impulse-conducting cells in the thalamus or its parts, a midline paired symmetrical structure between the cerebral cortex and midbrain within the brain that controls the flow of information to the cortex" [MGI:csmith, MGI:llw2] synonym: "abnormal thalamic neuron morphology" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology created_by: csmith creation_date: 2010-08-27T12:34:11Z [Term] id: MP:0010370 name: abnormal throat morphology def: "any structural anomaly in the anterior part of the neck, in front of the vertebral column comprising the pharynx and larynx" [MGI:llw2] synonym: "abnormal fauces morphology" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology created_by: csmith creation_date: 2010-08-27T12:38:50Z [Term] id: MP:0010371 name: abnormal epiglottis morphology alt_id: MP:0002259 def: "any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink" [MGI:llw2] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology is_a: MP:0010370 ! abnormal throat morphology created_by: csmith creation_date: 2010-08-27T12:39:55Z [Term] id: MP:0010372 name: throat cyst def: "presence of fluid-filled usually benign growths in the passage from the mouth to the pharynx" [MGI:llw2] is_a: MP:0010370 ! abnormal throat morphology created_by: csmith creation_date: 2010-08-27T12:40:34Z [Term] id: MP:0010373 name: myeloid hyperplasia def: "greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue" [MGI:csmith] synonym: "enhanced myelopoesis" RELATED [] is_a: MP:0001601 ! abnormal myelopoiesis is_a: MP:0008250 ! abnormal myeloid leukocyte morphology created_by: csmith creation_date: 2010-08-27T12:59:47Z [Term] id: MP:0010374 name: bilirubinate stones def: "caliculi in the gallbladder or a bile duct that is composed of calcium bilirubinate" [MGI:csmith] synonym: "black stones" EXACT [] synonym: "calcium bilirubinate stones" EXACT [] synonym: "pigment stones" EXACT [] is_a: MP:0002830 ! gallstones created_by: csmith creation_date: 2010-08-27T01:03:46Z [Term] id: MP:0010375 name: increased kidney iron level def: "increase in the amount of iron present in the renal tissue" [MGI:llw2] synonym: "increased renal iron level" EXACT [] synonym: "kidney iron deposits" EXACT [] synonym: "renal iron deposits" EXACT [] is_a: MP:0008742 ! abnormal kidney iron level created_by: csmith creation_date: 2010-08-27T01:28:09Z [Term] id: MP:0010376 name: decreased kidney iron level def: "reduction in the amount of iron present in the renal tissue" [MGI:llw2] synonym: "decreased renal iron level" EXACT [] synonym: "reduced kidney iron level" EXACT [] synonym: "reduced renal iron level" EXACT [] is_a: MP:0008742 ! abnormal kidney iron level created_by: csmith creation_date: 2010-08-27T01:28:25Z [Term] id: MP:0010377 name: abnormal gut flora balance def: "anomaly in the ratio of microorganisms that live in the digestive tracts of animals, many of which perform symbiotic functions to the host" [MGI:csmith] is_a: MP:0001663 ! abnormal digestive system physiology created_by: csmith creation_date: 2010-08-27T04:00:05Z [Term] id: MP:0010378 name: increased respiratory quotient def: "increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls" [MGI:csmith] subset: Sanger_Terms synonym: "increased respiratory exchange ratio" EXACT [] synonym: "increased RQ" EXACT [] is_a: MP:0004129 ! abnormal respiratory quotient created_by: csmith creation_date: 2010-09-16T02:01:33Z [Term] id: MP:0010379 name: decreased respiratory quotient def: "reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls" [MGI:csmith] subset: Sanger_Terms synonym: "decreased respiratory exchange ratio" EXACT [] synonym: "decreased RQ" EXACT [] synonym: "reduced respiratory exchange ratio" EXACT [] synonym: "reduced RQ" EXACT [] is_a: MP:0004129 ! abnormal respiratory quotient created_by: csmith creation_date: 2010-09-16T02:01:46Z [Term] id: MP:0010380 name: inner cell mass apoptosis def: "the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death" [MGI:csmith] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0008932 ! abnormal embryonic tissue physiology created_by: csmith creation_date: 2010-09-16T04:06:47Z [Term] id: MP:0010381 name: abnormal dosage compensation def: "anomaly in the process of compensating for the two-fold variation in X:autosome chromosome ratios between sexes by a global activation or inactivation of all, or most of, genes on one or both of the X chromosomes" [GO:0007549] is_a: MP:0005621 ! abnormal cell physiology created_by: csmith creation_date: 2010-09-20T10:01:32Z [Term] id: MP:0010382 name: abnormal dosage compensation, by inactivation of X chromosome def: "anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex" [GO:0009048] synonym: "abnormal Barr body formation" EXACT [] synonym: "abnormal X chromosome inactivation" EXACT [] is_a: MP:0010381 ! abnormal dosage compensation created_by: csmith creation_date: 2010-09-20T10:03:17Z [Term] id: MP:0010383 name: increased adenoma incidence alt_id: MP:0002815 def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy" [ISBN:0-683-40008-8, MESH:C04.557.470.035] is_a: MP:0010273 ! increased classified tumor incidence created_by: csmith creation_date: 2010-09-20T02:43:52Z [Term] id: MP:0010384 name: increased renal carcinoma incidence alt_id: MP:0002046 def: "greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "increased kidney carcinoma incidence" EXACT [] is_a: MP:0002038 ! carcinoma is_a: MP:0010294 ! increased kidney tumor incidence created_by: csmith creation_date: 2010-09-20T02:48:36Z [Term] id: MP:0010385 name: abnormal glycinergic neuron morphology def: "any structural anomaly of the neurons that utilize glycine as a neurotransmitter" [ISBN:0838580343] is_a: MP:0002882 ! abnormal neuron morphology created_by: csmith creation_date: 2010-09-20T03:27:41Z [Term] id: MP:0010386 name: abnormal urinary bladder physiology alt_id: MP:0005303 def: "any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys" [ISBN:0-683-40008-8] synonym: "urinary bladder dysfunction" EXACT [] is_a: MP:0005502 ! abnormal renal/urinary system physiology created_by: csmith creation_date: 2010-09-20T03:36:07Z [Term] id: MP:0010387 name: abnormal Bergmann glial cell morphology def: "any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal Bergmann glia" EXACT [] is_a: MP:0000875 ! abnormal cerebellar Purkinje cell layer created_by: csmith creation_date: 2010-09-20T03:55:18Z [Term] id: MP:0010388 name: abnormal Bergmann glial cell differentiation def: "abnormal formation of the astrocyte-type glia cells associated with Purkinje cells in the cerebellum" [ISBN:0-683-40008-8] is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0010387 ! abnormal Bergmann glial cell morphology created_by: csmith creation_date: 2010-09-20T03:56:52Z [Term] id: MP:0010389 name: mosaic coat color def: "a random coat color pattern due to genetically different populations of cells in the skin e.g. as the result of X-inactivation" [MGI:llw2] comment: In the vocabulary of mouse coat color geneticists, "mosaic" is a special-case patterning; only some cases of variegated coat color are mosaic. is_a: MP:0005366 ! variegated coat color created_by: csmith creation_date: 2010-09-20T04:12:23Z [Term] id: MP:0010390 name: increased adrenocortical adenoma incidence def: "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal cortex, occurring in a specific population in a given time period" [MGI:csmith] synonym: "increased adrenal cortex adenoma incidence" EXACT [] synonym: "increased adrenal cortical adenoma incidence" EXACT [] is_a: MP:0009044 ! increased adrenal gland adenoma incidence is_a: MP:0010366 ! increased adrenal cortical tumor incidence created_by: csmith creation_date: 2010-09-21T11:09:18Z [Term] id: MP:0010391 name: increased rhabdomyoma incidence alt_id: MP:0006139 def: "greater than the expected number of a benign neoplasm derived from striated muscle and comprised of an encapsulated mass of polygonal cells, occurring in a specific population in a given time period" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010290 ! increased muscle tumor incidence created_by: csmith creation_date: 2010-09-21T12:39:56Z [Term] id: MP:0010392 name: prolonged QRS complex duration def: "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith] synonym: "prolonged QRS duration " EXACT [] synonym: "prolonged QRS interval" EXACT [] synonym: "QRS interval elongation" EXACT [] synonym: "widened QRS complex" EXACT [] is_a: MP:0003898 ! abnormal QRS complex is_a: MP:0010636 ! bundle branch block created_by: csmith creation_date: 2010-09-22T12:42:32Z [Term] id: MP:0010393 name: shortened QRS complex duration def: "decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith] synonym: "narrow QRS complex" EXACT [] synonym: "shortened QRS duration " EXACT [] synonym: "shortened QRS interval" EXACT [] is_a: MP:0003898 ! abnormal QRS complex created_by: csmith creation_date: 2010-09-22T02:37:21Z [Term] id: MP:0010394 name: decreased QRS amplitude def: "reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects" [MGI:csmith] synonym: "reduced QRS amplitude" RELATED [] synonym: "reduced R wave amplitude" NARROW [] is_a: MP:0003898 ! abnormal QRS complex created_by: csmith creation_date: 2010-09-22T02:39:35Z [Term] id: MP:0010395 name: abnormal branchial arch development def: "abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears" [MGI:llw2] synonym: "abnormal pharyngeal arch development" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology created_by: csmith creation_date: 2010-09-22T03:33:41Z [Term] id: MP:0010396 name: ectopic branchial arch def: "abnormal location of any of the transient structures of the embryo resulting in misplaced regions of the head, neck and/or ears" [MGI:llw2] synonym: "ectopic pharyngeal arch" EXACT [] is_a: MP:0002884 ! abnormal branchial arch morphology created_by: csmith creation_date: 2010-09-22T03:35:03Z [Term] id: MP:0010397 name: abnormal otic capsule development def: "any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone" [MGI:llw2] is_a: MP:0000039 ! abnormal otic capsule morphology is_a: MP:0006030 ! abnormal otic vesicle development created_by: csmith creation_date: 2010-09-22T03:40:07Z [Term] id: MP:0010398 name: decreased liver glycogen level def: "less than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith] synonym: "decreased hepatic glycogen level" EXACT [] synonym: "reduced hepatic glycogen level" EXACT [] synonym: "reduced liver glycogen level" RELATED [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0005439 ! decreased glycogen level created_by: csmith creation_date: 2010-09-22T03:56:01Z [Term] id: MP:0010399 name: decreased skeletal muscle glycogen level def: "less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle" [MGI:csmith] synonym: "decreased striated muscle glycogen level" EXACT [] synonym: "reduced skeletal muscle glycogen level" EXACT [] synonym: "reduced striated muscle glycogen level" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology is_a: MP:0005439 ! decreased glycogen level created_by: csmith creation_date: 2010-09-22T03:58:07Z [Term] id: MP:0010400 name: increased liver glycogen level def: "greater than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith] synonym: "increased hepatic glycogen level" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0005440 ! increased glycogen level created_by: csmith creation_date: 2010-09-22T04:00:20Z [Term] id: MP:0010401 name: increased skeletal muscle glycogen level def: "greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle" [MGI:csmith] synonym: "increased striated muscle glycogen level" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology is_a: MP:0005440 ! increased glycogen level created_by: csmith creation_date: 2010-09-22T04:00:40Z [Term] id: MP:0010402 name: ventricular septal defect alt_id: Fyler:1300 def: "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540] comment: The term name is common usage among cardiologists and refers to the specific state in the definition (abnormal communications); do not confuse with parent term. subset: CvDC_Terms synonym: "interventricular septal defect" EXACT [] synonym: "ventricular septum foramen" EXACT [] synonym: "VSD" EXACT [] is_a: MP:0000281 ! abnormal interventricular septum morphology created_by: csmith creation_date: 2010-09-24T03:08:25Z [Term] id: MP:0010403 name: atrial septal defect alt_id: Fyler:2050 def: "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375] comment: The term name is common usage among cardiologists and refers to the specific state in the definition (abnormal communications); do not confuse with parent term. subset: CvDC_Terms synonym: "ASD " EXACT [] synonym: "atrial septum foramen" EXACT [] synonym: "interatrial septal defect" EXACT [] is_a: MP:0000282 ! abnormal interatrial septum morphology created_by: csmith creation_date: 2010-09-24T03:16:37Z [Term] id: MP:0010404 name: ostium primum atrial septal defect alt_id: Fyler:1110 def: "interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum" [http://emedicine.medscape.com, MGI:csmith] subset: CvDC_Terms synonym: "ostium primum ASD" EXACT [] synonym: "primum ASD" EXACT [] synonym: "primum atrial septal defect" EXACT [] is_a: MP:0010403 ! atrial septal defect created_by: csmith creation_date: 2010-09-27T10:21:21Z [Term] id: MP:0010405 name: ostium secundum atrial septal defect alt_id: Fyler:2000 def: "large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum" [http://emedicine.medscape.com, MGI:csmith] subset: CvDC_Terms synonym: "ostium secundum ASD" EXACT [] synonym: "secundum ASD" EXACT [] synonym: "secundum atrial septal defect" EXACT [] is_a: MP:0010403 ! atrial septal defect created_by: csmith creation_date: 2010-09-27T10:21:42Z [Term] id: MP:0010406 name: common atrium alt_id: Fyler:1140 def: "absence of the thin membranous structure between the two heart atria, resulting in the appearance of one upper chamber" [MGI:csmith] subset: CvDC_Terms synonym: "absent atrial septum" EXACT [] synonym: "common atrium ASD" EXACT [] synonym: "single atrium ASD" EXACT [] synonym: "single atrium atrial septal defect" EXACT [] is_a: MP:0010403 ! atrial septal defect created_by: csmith creation_date: 2010-09-27T10:22:18Z [Term] id: MP:0010407 name: coronary sinus atrial septal defect def: "interatrial communication (atrial septal defect) through coronary sinus orifice, that is characterized by the absence of at least a portion of the common wall that separates the coronary sinus and the left atrium; interatrial shunting occurs through the defect in the wall on the left atrial side, which is continuous with the orifice of the coronary sinus opening on the right atrial side of the septum" [http://emedicine.medscape.com, MGI:csmith] subset: CvDC_Terms synonym: "coronary sinus ASD" EXACT [] is_a: MP:0010403 ! atrial septal defect created_by: csmith creation_date: 2010-09-27T10:22:34Z [Term] id: MP:0010408 name: sinus venosus atrial septal defect alt_id: Fyler:2010 def: "interatrial communication (atrial septal defect) through the upper atrial septum and that is contiguous with the superior vena cava (SVC); it is rostral and posterior to the fossa ovalis (where secundum type defects occur) and is separate from it" [http://emedicine.medscape.com, MGI:csmith] subset: CvDC_Terms synonym: "sinus venosum ASD" EXACT [] synonym: "sinus venosus ASD" EXACT [] is_a: MP:0010403 ! atrial septal defect created_by: csmith creation_date: 2010-09-27T11:20:28Z [Term] id: MP:0010409 name: cor triatriatum alt_id: Fyler:3031 def: "a heart with 3 atria, is in which either the left or right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band that may vary significantly in size and shape, appearing similar to a diaphragm or funnel-shaped, bandlike, entirely intact (imperforate) or contain 1 or more openings (fenestrations) ranging from small, restrictive-type to large and widely open" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "triatrial heart" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology created_by: csmith creation_date: 2010-09-27T12:39:50Z [Term] id: MP:0010410 name: cor triatriatum sinistrum def: "a heart with 3 atria, is in which the left atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band" [http://emedicine.medscape.com] subset: CvDC_Terms is_a: MP:0003923 ! abnormal heart left atrium morphology is_a: MP:0010409 ! cor triatriatum created_by: csmith creation_date: 2010-09-27T12:40:08Z [Term] id: MP:0010411 name: cor triatriatum dextrum alt_id: Fyler:2854 def: "a heart with 3 atria, is in which the right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "cor triatriatum dextra" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology is_a: MP:0010409 ! cor triatriatum created_by: csmith creation_date: 2010-09-27T12:40:27Z [Term] id: MP:0010412 name: atrioventricular septal defect alt_id: Fyler:1100 def: "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com] comment: The term name is common usage among cardiologists and refers to the specific state in the definition (abnormal communications); do not confuse with parent term. subset: CvDC_Terms synonym: "Atrioventricular canal (endocardial cushion defect)" EXACT [] synonym: "atrioventricular canal defect " EXACT [] synonym: "AV septal defect" EXACT [] synonym: "AVC" EXACT [] synonym: "AVCD" EXACT [] synonym: "AVSD" EXACT [] synonym: "ECD" EXACT [] synonym: "endocardial cushion defect" EXACT [] is_a: MP:0010592 ! abnormal atrioventricular septum morphology created_by: csmith creation_date: 2010-09-27T02:50:46Z [Term] id: MP:0010413 name: complete atrioventricular septal defect alt_id: Fyler:1120 def: "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "common atrioventricular canal" EXACT [] synonym: "complete atrioventricular canal defect " EXACT [] synonym: "complete AVC" EXACT [] synonym: "complete AVSD" EXACT [] synonym: "complete common atrioventricular canal" EXACT [] synonym: "complete common AV canal" EXACT [] synonym: "complete ECD" EXACT [] synonym: "complete endocardial cushion defect" EXACT [] is_a: MP:0010412 ! atrioventricular septal defect created_by: csmith creation_date: 2010-09-27T03:17:33Z [Term] id: MP:0010414 name: partial atrioventricular septal defect def: "a type of atrioventricular septal defect in which the endocardial cushion defects present have an interatrial communication but lack an interventricular communication; the mitral and tricuspid annuli are separate but one or more additional features are present, including primum atrial septal defect (ASD), inlet ventricular septal defect (VSD), cleft of the anterior mitral valve leaflet, and wide anteroseptal tricuspid valve commissure or cleft septal tricuspid leaflet" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "partial atrioventricular canal defect " EXACT [] synonym: "partial AVC" EXACT [] synonym: "partial AVSD" EXACT [] synonym: "partial common atrioventricular canal" EXACT [] synonym: "partial ECD" EXACT [] synonym: "partial endocardial cushion defect" EXACT [] is_a: MP:0010412 ! atrioventricular septal defect created_by: csmith creation_date: 2010-09-27T03:18:02Z [Term] id: MP:0010415 name: intermediate atrioventricular septal defect alt_id: Fyler:1121 def: "a type of atrioventricular septal defect in which a partial AVSD is present together with a small interventricular communication; a single valvar annulus is usually present where the anterior and posterior bridging leaflets fuse overlying the ventricular septum, with two distinct valvar components observed" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "intermediate atrioventricular canal defect " EXACT [] synonym: "intermediate AVC" EXACT [] synonym: "intermediate AVSD" EXACT [] synonym: "intermediate ECD" EXACT [] synonym: "intermediate endocardial cushion defect" EXACT [] synonym: "transitional common atrioventricular canal" EXACT [] is_a: MP:0010412 ! atrioventricular septal defect created_by: csmith creation_date: 2010-09-27T03:29:50Z [Term] id: MP:0010416 name: interventricular septum membranous part aneurysm alt_id: Fyler:2346 def: "a a saclike thinning, stretching and widening of the ventricular membranous septum resulting from weakening of the membraneous septum wall" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "aneurysm of membranous septum" EXACT [] synonym: "ventricular membranous septum aneurysm" EXACT [] is_a: MP:0008823 ! abnormal interventricular septum membranous part morphology is_a: MP:0010421 ! ventricular aneurysm created_by: csmith creation_date: 2010-09-27T03:54:46Z [Term] id: MP:0010417 name: subarterial ventricular septal defect alt_id: Fyler:1330 def: "abnormal communications between the two lower chambers of the heart, located beneath the pulmonic valve, communicating with the RV outflow tract above the supraventricular crest, and are associated with aortic regurgitation secondary to the prolapse of the right aortic cusp" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "conal septal defect" EXACT [] synonym: "conal septal ventricular septal defect" EXACT [] synonym: "conus ventricular septal defect" EXACT [] synonym: "infundibular ventricular septal defect" EXACT [] synonym: "outlet ventricular septal defect" EXACT [] synonym: "subarterial doubly committed ventricular septal defect" EXACT [] synonym: "subpulmonic ventricular septal defect" EXACT [] synonym: "supracristal ventricular septal defect" EXACT [] synonym: "VSD, Type 1" EXACT [] is_a: MP:0010402 ! ventricular septal defect created_by: csmith creation_date: 2010-09-27T04:09:31Z [Term] id: MP:0010418 name: perimembraneous ventricular septal defect alt_id: Fyler:1310 def: "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "conoventricular ventricular septal defect" EXACT [] synonym: "high ventricular septal defect" EXACT [] synonym: "infracristal ventricular septal defect" EXACT [] synonym: "membraneous ventricular septal defect" RELATED [] synonym: "paramembranous ventricular septal defect" EXACT [] synonym: "perimembranous inlet ventricular septal defect" NARROW [] synonym: "perimembranous muscular ventricular septal defect" NARROW [] synonym: "perimembranous outlet ventricular septal defect" NARROW [] synonym: "pmVSD" EXACT [] synonym: "ventricular septal defect, membranous" EXACT [] synonym: "VSD, Type 2" EXACT [] is_a: MP:0008823 ! abnormal interventricular septum membranous part morphology is_a: MP:0010402 ! ventricular septal defect created_by: csmith creation_date: 2010-09-27T04:12:45Z [Term] id: MP:0010419 name: inlet ventricular septal defect alt_id: Fyler:1340 def: "abnormal communications between the two lower chambers of the heart, located posterior to the septal leaflet of the tricuspid valve and which are not associated with defects of the atrioventricular valves" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "AV Canal type VSD" EXACT [] synonym: "AV septum-type ventricular septum defect" EXACT [] synonym: "canal-type ventricular septal defect" EXACT [] synonym: "endocardial cushion-type ventricular septal defect" EXACT [] synonym: "inlet-type ventricular septal defect" EXACT [] synonym: "juxtatricuspid ventricular septal defect" EXACT [] synonym: "posterior ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, ECD type" EXACT [] synonym: "VSD, Type 3" EXACT [] is_a: MP:0010402 ! ventricular septal defect created_by: csmith creation_date: 2010-09-27T04:13:10Z [Term] id: MP:0010420 name: muscular ventricular septal defect alt_id: Fyler:1320 def: "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "mVSD" EXACT [] synonym: "Swiss-cheese septum" EXACT [] synonym: "trabecular ventricular septal defect" EXACT [] synonym: "ventricular septal defect, muscular" EXACT [] synonym: "VSD, Type 4" EXACT [] is_a: MP:0010402 ! ventricular septal defect is_a: MP:0010498 ! abnormal interventricular septum muscular part morphology created_by: csmith creation_date: 2010-09-27T04:13:52Z [Term] id: MP:0010421 name: ventricular aneurysm def: "thinning, stretching and bulging of a weakened ventricular wall" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "cardiac aneurysm" EXACT [] synonym: "mural aneurysm" EXACT [] is_a: MP:0003279 ! aneurysm is_a: MP:0005294 ! abnormal heart ventricle morphology created_by: csmith creation_date: 2010-09-28T11:25:43Z [Term] id: MP:0010422 name: heart right ventricle hypoplasia alt_id: Fyler:1821 def: "underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells" [MGI:csmith] subset: CvDC_Terms synonym: "hypoplastic RV" EXACT [] synonym: "right ventricular hypoplasia" EXACT [] is_a: MP:0003649 ! decreased heart right ventricle size created_by: csmith creation_date: 2010-09-28T11:33:10Z [Term] id: MP:0010423 name: heart right ventricle aneurysm alt_id: Fyler:2333 def: "thinning, stretching and bulging of a weakened heart right ventricular wall" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0003920 ! abnormal heart right ventricle morphology is_a: MP:0010421 ! ventricular aneurysm created_by: csmith creation_date: 2010-09-28T11:44:38Z [Term] id: MP:0010424 name: double chambered heart right ventricle def: "septated right ventricle caused by the presence of abnormally located or hypertrophied cardiac muscle bands that divide the ventricular cavity into a proximal and a distal chamber; the muscle bundles typically run between an area located in the ventricular septum, beneath the level of the septal leaflet of the tricuspid valve, and the anterior wall of the right ventricle" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "DCRV" EXACT [] synonym: "double chambered right ventricle" EXACT [] synonym: "double chambered RV" EXACT [] synonym: "Double-Chambered Right Ventricle" EXACT [] synonym: "septated right ventricle" BROAD [] is_a: MP:0003920 ! abnormal heart right ventricle morphology created_by: csmith creation_date: 2010-09-28T11:47:43Z [Term] id: MP:0010425 name: abnormal heart and great vessel attachment def: "any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta" [MGI:csmith] is_a: MP:0000266 ! abnormal heart morphology created_by: csmith creation_date: 2010-09-28T12:37:59Z [Term] id: MP:0010426 name: abnormal heart and great artery attachment def: "any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta" [MGI:csmith] is_a: MP:0010425 ! abnormal heart and great vessel attachment created_by: csmith creation_date: 2010-09-28T12:45:42Z [Term] id: MP:0010427 name: double outlet left ventricle alt_id: Fyler:0650 alt_id: Fyler:650 def: "both the aorta and the pulmonary trunk originate from the left ventricle" [MGI:csmith] subset: CvDC_Terms synonym: "DOLV" EXACT [] synonym: "double outlet heart left ventricle" EXACT [] is_a: MP:0010426 ! abnormal heart and great artery attachment created_by: csmith creation_date: 2010-09-28T12:52:51Z [Term] id: MP:0010428 name: abnormal heart right ventricle outflow tract morphology alt_id: MP:0009464 def: "any structural anomaly of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal arterial cone morphology" EXACT [] synonym: "abnormal conus arteriosus morphology" EXACT [] synonym: "abnormal infundibulum of right ventricle" EXACT [] synonym: "abnormal infundibulum of the heart" EXACT [] synonym: "abnormal pulmonary cone morphology" EXACT [] synonym: "abnormal pulmonary conus" EXACT [] synonym: "abnormal right ventricle pulmonary outflow tract" EXACT [] synonym: "abnormal RVOT" EXACT [] is_a: MP:0003920 ! abnormal heart right ventricle morphology is_a: MP:0010224 ! abnormal heart ventricle outflow tract morphology created_by: csmith creation_date: 2010-09-28T01:22:48Z [Term] id: MP:0010429 name: abnormal heart left ventricle outflow tract morphology def: "any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal aortic vestibule morphology" EXACT [] synonym: "abnormal left ventricular outflow region morphology" EXACT [] synonym: "abnormal LVOT" EXACT [] synonym: "abnormal outflow part of left ventricle morphology" RELATED [] synonym: "abnormal outflow tract of left ventricle morphology" EXACT [] synonym: "abnormal Sibson vestibule" EXACT [] is_a: MP:0003921 ! abnormal heart left ventricle morphology is_a: MP:0010224 ! abnormal heart ventricle outflow tract morphology created_by: csmith creation_date: 2010-09-28T01:23:35Z [Term] id: MP:0010430 name: total anomalous pulmonary venous connection, supracardiac alt_id: Fyler:0910 alt_id: Fyler:910 def: "the pulmonary veins drain via a common vein into the right superior vena cava, left superior vena cava, or their tributaries instead of the left atrium" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "TAPVC, Type 1 (supracardiac)" EXACT [] synonym: "totally anomalous pulmonary venous return, supracardiac" EXACT [] is_a: MP:0010441 ! total anomalous pulmonary venous connection created_by: csmith creation_date: 2010-09-28T03:41:50Z [Term] id: MP:0010431 name: atrial situs inversus alt_id: Fyler:0150 alt_id: Fyler:150 def: "anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith] subset: CvDC_Terms is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0004133 ! heterotaxia is_a: MP:0006065 ! abnormal heart position or orientation created_by: csmith creation_date: 2010-09-28T01:50:46Z [Term] id: MP:0010432 name: common ventricle alt_id: Fyler:0200 alt_id: Fyler:200 def: "the presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle" [MGI:csmith] subset: CvDC_Terms synonym: "absent interventricular septum" RELATED [] synonym: "single ventricle" EXACT [] synonym: "univentricular heart" EXACT [] is_a: MP:0000281 ! abnormal interventricular septum morphology created_by: csmith creation_date: 2010-09-28T01:54:56Z [Term] id: MP:0010433 name: double inlet heart left ventricle alt_id: MP:0005295 def: "congenital heart defect in which both atriums are connected to the left ventricle, with a hypoplastic right ventricle often present, which may be on the opposite side of the heart" [MGI:csmith] subset: CvDC_Terms synonym: "DILV" EXACT [] synonym: "double inlet left ventricle" EXACT [] is_a: MP:0010435 ! abnormal heart atrium and ventricle connection created_by: csmith creation_date: 2010-09-28T02:00:04Z [Term] id: MP:0010434 name: double inlet heart right ventricle def: "congenital heart defect in which both atriums are connected to the right ventricle, with a hypoplastic left ventricle often present" [PMID:7008335] subset: CvDC_Terms synonym: "DIRV" EXACT [] synonym: "double inlet right ventricle" EXACT [] is_a: MP:0010435 ! abnormal heart atrium and ventricle connection created_by: csmith creation_date: 2010-09-28T02:00:44Z [Term] id: MP:0010435 name: abnormal heart atrium and ventricle connection def: "any anomaly in the in the position or pattern of the connection site of the heart atrium to the ventricles, usually occurring through the atrioventricular valves" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal AV connections" EXACT [] synonym: "abnormal VA connections" EXACT [] is_a: MP:0000266 ! abnormal heart morphology created_by: csmith creation_date: 2010-09-28T02:13:14Z [Term] id: MP:0010436 name: abnormal coronary sinus morphology alt_id: Fyler:2840 def: "any structural anomaly of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occuring between the inferior vena cava and the atrioventricular orifice" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal coronarius morphology" EXACT [] is_a: MP:0010551 ! abnormal coronary vessel morphology created_by: csmith creation_date: 2010-09-28T02:33:34Z [Term] id: MP:0010437 name: absent coronary sinus alt_id: Fyler:2841 def: "absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "absent coronarius" EXACT [] is_a: MP:0010436 ! abnormal coronary sinus morphology created_by: csmith creation_date: 2010-09-28T02:37:37Z [Term] id: MP:0010438 name: pulmonary vein stenosis alt_id: Fyler:3002 def: "a stricture or occlusion of the lumen of the pulmonary vein" [MGI:csmith] subset: CvDC_Terms synonym: "pulmonary venous obstruction" EXACT [] is_a: MP:0002726 ! abnormal pulmonary vein morphology is_a: MP:0005412 ! vascular stenosis created_by: csmith creation_date: 2010-09-28T02:41:28Z [Term] id: MP:0010439 name: abnormal hepatic vein morphology def: "any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0002725 ! abnormal vein morphology created_by: csmith creation_date: 2010-09-28T02:54:04Z [Term] id: MP:0010440 name: anomalous pulmonary venous connection def: "abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery" [http://emedicine.medscape.com] comment: The word "anomalous" in this term and its children was used instead of abnormal since this is common usage among cardiologists. subset: CvDC_Terms synonym: "anomalous pulmonary venous return" RELATED [] synonym: "APVC" EXACT [] is_a: MP:0010425 ! abnormal heart and great vessel attachment created_by: csmith creation_date: 2010-09-28T03:01:06Z [Term] id: MP:0010441 name: total anomalous pulmonary venous connection alt_id: Fyler:0900 alt_id: Fyler:900 def: "abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in TAPVC, none of the four pulmonary veins are attached to the left atrium" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "TAPVC" EXACT [] synonym: "TAPVD" EXACT [] synonym: "TAPVR" EXACT [] synonym: "total anomalous pulmonary venous drainage" EXACT [] synonym: "total anomalous pulmonary venous return" EXACT [] synonym: "totally anomalous pulmonary venous return" EXACT [] is_a: MP:0010440 ! anomalous pulmonary venous connection created_by: csmith creation_date: 2010-09-28T03:01:58Z [Term] id: MP:0010442 name: partial anomalous pulmonary venous connection alt_id: Fyler:2030 def: "abnormal development and attachment of one to three of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in partial drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in PAPVC, at least one pulmonary vein remains attached to the left atrium" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "PAPVC" EXACT [] synonym: "PAPVR" EXACT [] synonym: "partial anomalous pulmonary venous return" EXACT [] synonym: "partially anomalous pulmonary venous connection(s)" EXACT [] is_a: MP:0010440 ! anomalous pulmonary venous connection created_by: csmith creation_date: 2010-09-28T03:05:45Z [Term] id: MP:0010443 name: total anomalous pulmonary venous connection, intracardiac alt_id: Fyler:0920 alt_id: Fyler:0930 alt_id: Fyler:920 alt_id: Fyler:930 def: "the pulmonary veins connect directly to the right side of heart (eg, coronary sinus or directly to the right atrium) instead of the left atrium" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "TAPVC, Type 2 (cardiac)" EXACT [] synonym: "totally anomalous pulmonary venous return, coronary sinus" NARROW [] synonym: "totally anomalous pulmonary venous return, right atrium" NARROW [] is_a: MP:0010441 ! total anomalous pulmonary venous connection created_by: csmith creation_date: 2010-09-28T03:42:16Z [Term] id: MP:0010444 name: total anomalous pulmonary venous connection, infracardiac def: "the common pulmonary vein travels down anterior to the esophagus through the diaphragm to connect to the portal venous system instead of the left atrium" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "TAPVC, infradiaphragmatic connection" EXACT [] synonym: "TAPVC, Type 3 (infracardiac)" EXACT [] synonym: "totally anomalous pulmonary venous return, infradiaphragmatic" EXACT [] is_a: MP:0010441 ! total anomalous pulmonary venous connection created_by: csmith creation_date: 2010-09-28T03:42:33Z [Term] id: MP:0010445 name: total anomalous pulmonary venous connection, mixed alt_id: Fyler:0950 alt_id: Fyler:950 def: "the right and left pulmonary veins drain to different sites other than the left atrium; for example, the left pulmonary veins into the left vertical vein to the left innominate, and/or the right pulmonary veins directly into the right atrium or coronary sinus" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "TAPVC, Type 4 (mixed)" EXACT [] is_a: MP:0010441 ! total anomalous pulmonary venous connection created_by: csmith creation_date: 2010-09-28T03:42:53Z [Term] id: MP:0010446 name: heart left ventricle hypoplasia alt_id: Fyler:1811 def: "underdevelopment or reduced size of the heart left ventricle, often due to a reduced number of cells" [MGI:csmith] subset: CvDC_Terms synonym: "hypoplastic LV" EXACT [] synonym: "LV hypoplasia" EXACT [] is_a: MP:0010580 ! decreased heart left ventricle size created_by: csmith creation_date: 2010-09-28T04:13:22Z [Term] id: MP:0010447 name: heart left ventricle aneurysm alt_id: Fyler:2340 def: "thinning, stretching and bulging of a weakened heart right ventricular wall" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "LV aneurysm" EXACT [] is_a: MP:0003921 ! abnormal heart left ventricle morphology is_a: MP:0010421 ! ventricular aneurysm created_by: csmith creation_date: 2010-09-28T04:14:22Z [Term] id: MP:0010448 name: heart left ventricle outflow tract stenosis alt_id: Fyler:1470 def: "abnormal constriction or narrowing of the portion of the left ventricle through which blood normally flows into the aorta" [MGI:csmith] subset: CvDC_Terms synonym: "aortic vestibule stenosis" EXACT [] synonym: "heart left ventricle outflow tract obstruction" EXACT [] synonym: "left ventricular outflow region stenosis" EXACT [] synonym: "LVOTO" EXACT [] synonym: "outflow part of left ventricle stenosis" EXACT [] synonym: "outflow tract of left ventricle stenosis" EXACT [] synonym: "subaortic stenosis " NARROW [] synonym: "subvalvar stenosis" RELATED [] is_a: MP:0010429 ! abnormal heart left ventricle outflow tract morphology created_by: csmith creation_date: 2010-09-28T04:20:54Z [Term] id: MP:0010449 name: heart right ventricle outflow tract stenosis alt_id: Fyler:1639 alt_id: MP:0010518 def: "abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "arterial cone stenosis" EXACT [] synonym: "conus arteriosus stenosis" EXACT [] synonym: "heart right ventricle outflow tract obstruction" EXACT [] synonym: "infundibular pulmonary stenosis" EXACT [] synonym: "infundibular pulmonic stenosis" EXACT [] synonym: "infundibulum of right ventricle stenosis" EXACT [] synonym: "infundibulum of the heart stenosis" EXACT [] synonym: "pulmonary cone stenosis" EXACT [] synonym: "pulmonary conus stenosis" EXACT [] synonym: "right ventricle infundibulum stenosis" RELATED [] synonym: "right ventricle pulmonary outflow tract stenosis" EXACT [] synonym: "RVOTO" EXACT [] synonym: "subpulmonary stenosis" EXACT [] synonym: "subpulmonic stenosis" EXACT [] is_a: MP:0010428 ! abnormal heart right ventricle outflow tract morphology created_by: csmith creation_date: 2010-09-28T04:21:35Z [Term] id: MP:0010450 name: atrial septal aneurysm def: "a saclike thinning, stretching and widening of the heart atrial septum resulting from weakening of the septum wall" [ISBN:0-683-40008-8] is_a: MP:0000282 ! abnormal interatrial septum morphology is_a: MP:0003279 ! aneurysm created_by: csmith creation_date: 2010-09-29T09:36:46Z [Term] id: MP:0010451 name: kidney microaneurysm def: "focal dilation of arteriocapillary junctions in the kidney" [ISBN:0-683-40008-8] synonym: "renal microaneurysms" RELATED [] is_a: MP:0000530 ! abnormal kidney blood vessel morphology is_a: MP:0003279 ! aneurysm created_by: csmith creation_date: 2010-09-29T09:39:41Z [Term] id: MP:0010452 name: retina microaneurysm def: "focal dilation of arteriocapillary junctions in the retina" [ISBN:0-683-40008-8] is_a: MP:0002792 ! abnormal retinal vasculature morphology is_a: MP:0003279 ! aneurysm created_by: csmith creation_date: 2010-09-29T09:41:51Z [Term] id: MP:0010453 name: abnormal coronary vein morphology def: "any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus" [MGI:csmith] is_a: MP:0002725 ! abnormal vein morphology is_a: MP:0010551 ! abnormal coronary vessel morphology created_by: csmith creation_date: 2010-09-29T11:15:29Z [Term] id: MP:0010454 name: abnormal truncus arteriosus septation alt_id: MP:0005674 def: "anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development" [MGI:csmith] synonym: "abnormal aortico-pulmonary septum formation" EXACT [] synonym: "abnormal common arterial trunk septation" EXACT [] is_a: MP:0006126 ! abnormal outflow tract development created_by: csmith creation_date: 2010-09-29T12:23:33Z [Term] id: MP:0010455 name: aortopulmonary window alt_id: Fyler:0560 alt_id: Fyler:560 def: "a defect between the great vessels that results from failure of the conotruncal ridges to fuse resulting in an abnormal communication between the aorta and the pulmonary arteries" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "aortico-pulmonary window" EXACT [] synonym: "aortopulmonary fistula" EXACT [] synonym: "AP window" RELATED [] synonym: "APW" RELATED [] is_a: MP:0000272 ! abnormal aorta morphology is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0010454 ! abnormal truncus arteriosus septation is_a: MP:0010651 ! aorticopulmonary septal defect created_by: csmith creation_date: 2010-09-29T01:11:11Z [Term] id: MP:0010456 name: hemitruncus alt_id: Fyler:0550 alt_id: Fyler:550 def: "congenital heart defect in which the origin of a pulmonary artery, usually the right, arises from the ascending aorta instead of the pulmonary trunk with the aortic and pulmonary valves remaining separate" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0000484 ! abnormal pulmonary artery morphology created_by: csmith creation_date: 2010-09-29T01:25:09Z [Term] id: MP:0010457 name: pulmonary artery stenosis alt_id: Fyler:1622 def: "constriction or narrowing of the pulmonary artery" [MGI:csmith] comment: Do not confuse with pulmonary valve stenosis. subset: CvDC_Terms synonym: "pulmonary arterial stenosis" EXACT [] synonym: "pulmonary stenosis" RELATED [] is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0006135 ! artery stenosis created_by: csmith creation_date: 2010-09-29T02:28:28Z [Term] id: MP:0010458 name: pulmonary trunk hypoplasia def: "underdevelopment or reduced size of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery, usually due to reduced cell number" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0000486 ! abnormal pulmonary trunk morphology created_by: csmith creation_date: 2010-09-29T02:36:52Z [Term] id: MP:0010459 name: supravalvar pulmonary trunk stenosis def: "diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0000486 ! abnormal pulmonary trunk morphology is_a: MP:0006135 ! artery stenosis created_by: csmith creation_date: 2010-09-29T02:41:37Z [Term] id: MP:0010460 name: pulmonary artery hypoplasia alt_id: Fyler:2966 def: "underdevelopment or reduced size of the artery that arises from the right ventricle and conveys unaerated blood to the lungs, usually due to reduced cell number" [MESH:A07.231.114.715] subset: CvDC_Terms synonym: "hypoplastic main pulmonary artery" EXACT [] synonym: "pulmonary arterial hypoplasia" EXACT [] is_a: MP:0000484 ! abnormal pulmonary artery morphology created_by: csmith creation_date: 2010-09-29T02:46:23Z [Term] id: MP:0010461 name: discontinuous pulmonary artery def: "one or more pulmonary arteries is disconnected from the main pulmonary trunk and arises from a patent ductus arteriosus" [PMID:15902835] subset: CvDC_Terms synonym: " pulmonary artery discontinuity" EXACT [] synonym: "discontinuous pulmonary arteries" EXACT [] synonym: "non-confluent pulmonary arteries" EXACT [] is_a: MP:0000484 ! abnormal pulmonary artery morphology created_by: csmith creation_date: 2010-09-29T02:51:21Z [Term] id: MP:0010462 name: pulmonary artery aneurysm def: "a protruding sac formed by the dilation of the wall of a pulmonary artery resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "pulmonary arterial aneurysm" EXACT [] is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0003279 ! aneurysm created_by: csmith creation_date: 2010-09-29T02:55:24Z [Term] id: MP:0010463 name: aorta stenosis def: "diffuse constriction or narrowing of the aorta" [MGI:csmith] comment: Do not confuse with aortic valve stenosis. subset: CvDC_Terms synonym: "aortic stenosis" RELATED [] is_a: MP:0000272 ! abnormal aorta morphology is_a: MP:0006135 ! artery stenosis created_by: csmith creation_date: 2010-09-29T03:08:21Z [Term] id: MP:0010464 name: abnormal aortic arch and aortic arch branch attachment alt_id: Fyler:2705 def: "any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "aortic arch branch abnormality" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2010-09-29T03:29:54Z [Term] id: MP:0010465 name: aberrant origin of the right subclavian artery def: "the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta" [MGI:csmith] subset: CvDC_Terms synonym: " aberrant origin right subclavian artery" RELATED [] is_a: MP:0010464 ! abnormal aortic arch and aortic arch branch attachment is_a: MP:0010487 ! abnormal right subclavian artery morphology created_by: csmith creation_date: 2010-09-29T03:33:08Z [Term] id: MP:0010466 name: vascular ring alt_id: Fyler:2760 def: "the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "aortic vascular ring" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2010-09-29T03:44:33Z [Term] id: MP:0010467 name: pulmonary artery sling def: "anomalous origin of the left pulmonary artery from the posterior aspect of the right pulmonary artery, with the anomalous left pulmonary artery coursing over the right mainstem bronchus and then from right to left, posterior to the trachea or carina and anterior to the esophagus, to reach the hilum of the left lung, which compresses the lower trachea and right mainstem bronchus" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "pulmonary arterial sling" EXACT [] is_a: MP:0010466 ! vascular ring created_by: csmith creation_date: 2010-09-29T04:22:55Z [Term] id: MP:0010468 name: abnormal thoracic aorta morphology def: "any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest" [http://www.medterms.com] xref: MA:0002569 is_a: MP:0000272 ! abnormal aorta morphology created_by: csmith creation_date: 2010-09-30T09:03:29Z [Term] id: MP:0010469 name: ascending aorta hypoplasia alt_id: Fyler:2703 def: "underdevelopment or reduced size of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise, usually due to reduced cell number" [MGI:csmith] subset: CvDC_Terms synonym: "hypoplasia ascending aorta" EXACT [] synonym: "hypoplastic ascending aorta" EXACT [] is_a: MP:0009867 ! abnormal ascending aorta morphology created_by: csmith creation_date: 2010-09-30T09:27:38Z [Term] id: MP:0010470 name: ascending aorta dilation alt_id: Fyler:2701 def: "the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] subset: CvDC_Terms synonym: "dilated ascending aorta" EXACT [] is_a: MP:0009867 ! abnormal ascending aorta morphology created_by: csmith creation_date: 2010-09-30T09:28:04Z [Term] id: MP:0010471 name: supravalvar aortic stenosis alt_id: Fyler:1430 def: "a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root" [MGI:csmith] subset: CvDC_Terms synonym: "Aortic stenosis - supravalvar" EXACT [] synonym: "ascending aorta stenosis" EXACT [] synonym: "supravalvar stenosis" EXACT [] is_a: MP:0010463 ! aorta stenosis is_a: MP:0011572 ! abnormal aorta bulb morphology created_by: csmith creation_date: 2010-09-30T09:28:48Z [Term] id: MP:0010472 name: abnormal ascending aorta and coronary artery attachment def: "any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta" [MGI:csmith] subset: CvDC_Terms is_a: MP:0004111 ! abnormal coronary artery morphology is_a: MP:0009867 ! abnormal ascending aorta morphology created_by: csmith creation_date: 2010-09-30T09:34:42Z [Term] id: MP:0010473 name: descending aorta dilation alt_id: Fyler:2754 def: "widening or enlargment of the lumen of the descending aorta" [MGI:csmith] subset: CvDC_Terms is_a: MP:0009869 ! abnormal descending aorta morphology created_by: csmith creation_date: 2010-09-30T09:40:28Z [Term] id: MP:0010474 name: descending aorta hypoplasia alt_id: Fyler:2753 def: "underdevelopment or reduced size of the descending aorta, usually due to reduced cell number" [MGI:csmith] subset: CvDC_Terms is_a: MP:0009869 ! abnormal descending aorta morphology created_by: csmith creation_date: 2010-09-30T09:41:41Z [Term] id: MP:0010475 name: anomalous pulmonary origin of left coronary artery alt_id: Fyler:3101 def: "the left coronary artery arises from the pulmonary artery insead of the aorta" [MGI:csmith, PMID:12238882] comment: "anomalous" was used in the term name instead of "abnormal" due to common usage of this term among cardiologists. subset: CvDC_Terms synonym: "ALCAPA" EXACT [] synonym: "ALCPA" NARROW [] is_a: MP:0010472 ! abnormal ascending aorta and coronary artery attachment created_by: csmith creation_date: 2010-09-30T09:45:02Z [Term] id: MP:0010476 name: coronary fistula alt_id: Fyler:2230 def: "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula)" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "coronary artery fistula" EXACT [] is_a: MP:0004111 ! abnormal coronary artery morphology created_by: csmith creation_date: 2010-09-30T09:52:34Z [Term] id: MP:0010477 name: coronary artery aneurysm alt_id: Fyler:3129 def: "a protruding sac formed by the dilation of the wall of a coronary artery resulting from a weakening of the vessel wall" [MGI:csmith] subset: CvDC_Terms synonym: "coronary arterial aneurysm" EXACT [] is_a: MP:0003279 ! aneurysm is_a: MP:0004111 ! abnormal coronary artery morphology created_by: csmith creation_date: 2010-09-30T09:57:14Z [Term] id: MP:0010478 name: intracranial aneurysm def: "a protruding sac within the cranial space formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0003279 ! aneurysm created_by: csmith creation_date: 2010-09-30T10:04:22Z [Term] id: MP:0010479 name: brain aneurysm def: "a protruding sac within the brain formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0003279 ! aneurysm is_a: MP:0004950 ! abnormal brain vasculature morphology created_by: csmith creation_date: 2010-09-30T10:04:31Z [Term] id: MP:0010480 name: pulmonary arteriovenous malformation alt_id: Fyler:2210 def: "abnormal communications between the pulmonary arteries and the pulmonary veins, or between a bronchial artery and the pulmonary vein" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "PAVM" EXACT [] synonym: "pulmonary arteriovenous fistula" EXACT [] is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0002726 ! abnormal pulmonary vein morphology is_a: MP:0006093 ! arteriovenous malformation created_by: csmith creation_date: 2010-09-30T10:40:06Z [Term] id: MP:0010481 name: left ventricle to aorta tunnel alt_id: Fyler:1460 def: "an abnormal communication between the left ventricle and the ascending aorta in addition to the aortic valve" [MGI:csmith] subset: CvDC_Terms synonym: "aortic-left ventricular tunnel" EXACT [] synonym: "aorto-LV tunnel" EXACT [] synonym: "left ventricular aortic tunnel" EXACT [] synonym: "LV to aorta tunnel" EXACT [] is_a: MP:0003921 ! abnormal heart left ventricle morphology is_a: MP:0009867 ! abnormal ascending aorta morphology created_by: csmith creation_date: 2010-09-30T10:46:56Z [Term] id: MP:0010482 name: abnormal aortic sinus morphology def: "any structural anomaly of the spaces betwen the superior aspect of each of the three cusps of the aortic valve and the dilated portion of the wall of the ascending aorta, immediately above each cusp; the three sinuses include the posterior (non-coronary sinus), and the right and left aortic sinuses (from which the left and right coronary arteries arise)" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "abnormal Petit sinus morphology" EXACT [] synonym: "abnormal sinus of Valsalva morphology" EXACT [] synonym: "abnormal Valsalva sinus morphology" EXACT [] is_a: MP:0011572 ! abnormal aorta bulb morphology created_by: csmith creation_date: 2010-09-30T10:52:58Z [Term] id: MP:0010483 name: aortic sinus aneurysm alt_id: Fyler:2316 def: "a protruding sac formed by the dilation of the wall of the aortic sinus resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "aortic sinus of Valsalva aneurysm" EXACT [] synonym: "Petit sinus aneurysm" EXACT [] synonym: "sinus of Valsalva aneurysm" EXACT [] synonym: "Valsalva sinus aneurysm" EXACT [] is_a: MP:0010482 ! abnormal aortic sinus morphology is_a: MP:0010658 ! thoracic aorta aneurysm is_a: MP:0010661 ! ascending aorta aneurysm created_by: csmith creation_date: 2010-09-30T11:07:45Z [Term] id: MP:0010484 name: bicuspid aortic valve def: "the presence of two cusps in the aortic valve instead of three" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "BAV" EXACT [] is_a: MP:0010595 ! abnormal aortic valve cusp morphology created_by: csmith creation_date: 2010-09-30T11:19:01Z [Term] id: MP:0010485 name: aortic arch hypoplasia alt_id: Fyler:2704 def: "underdevelopment or reduced size of the aortic arch, usually due to reduced cell number" [MGI:csmith] subset: CvDC_Terms is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2010-09-30T11:22:31Z [Term] id: MP:0010486 name: absent right subclavian artery def: "absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body" [MGI:csmith] subset: CvDC_Terms is_a: MP:0010487 ! abnormal right subclavian artery morphology created_by: csmith creation_date: 2010-09-30T11:55:35Z [Term] id: MP:0010487 name: abnormal right subclavian artery morphology def: "any structural anomaly of the artery that normally extends from the brachiocephalic artery to the right side of the body" [MGI:csmith] synonym: "abnormal RSA morphology" EXACT [] is_a: MP:0003395 ! abnormal subclavian artery morphology created_by: csmith creation_date: 2010-09-30T11:56:57Z [Term] id: MP:0010488 name: abnormal left subclavian artery morphology def: "any structural anomaly of the artery that extends from the aortic arch to the left side of the body" [MGI:csmith] is_a: MP:0003395 ! abnormal subclavian artery morphology created_by: csmith creation_date: 2010-09-30T11:57:31Z [Term] id: MP:0010489 name: abnormal heart atrium auricular region morphology def: "any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal atrial appendage morphology" EXACT [] synonym: "abnormal atrial auricles" EXACT [] synonym: "abnormal auricle of atria morphology" EXACT [] synonym: "abnormal auricular appendix" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology created_by: csmith creation_date: 2010-09-30T12:20:12Z [Term] id: MP:0010490 name: abnormal inferior vena cava valve morphology def: "any structural anomaly of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal Eustachian valve morphology" EXACT [] synonym: "abnormal sylvian valve morphology" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology is_a: MP:0003922 ! abnormal heart right atrium morphology created_by: csmith creation_date: 2010-09-30T12:54:02Z [Term] id: MP:0010491 name: abnormal coronary sinus valve morphology def: "any structural anomaly of the semicircular fold of the right atrial endocardium located at the coronary sinus attachment to the right atrium that serves to prevent the reflux of blood back to the coronary arteries during atrial contraction" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal coronary valve morphology" EXACT [] synonym: "abnormal Thebesian valve morphology" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology is_a: MP:0003922 ! abnormal heart right atrium morphology created_by: csmith creation_date: 2010-09-30T12:54:34Z [Term] id: MP:0010492 name: abnormal atrium endocardium morphology def: "any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the atria" [MESH:A07.541.207] subset: CvDC_Terms synonym: "abnormal atrial endocardium" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0003974 ! abnormal endocardium morphology created_by: csmith creation_date: 2010-09-30T12:33:34Z [Term] id: MP:0010493 name: abnormal atrium myocardium morphology def: "any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8] synonym: "abnormal atrial myocardium morphology" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-09-30T12:34:03Z [Term] id: MP:0010494 name: abnormal ventricle endocardium morphology def: "any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the ventricles" [MESH:A07.541.207] synonym: "abnormal ventricular endocardium morphology" EXACT [] is_a: MP:0003974 ! abnormal endocardium morphology is_a: MP:0005294 ! abnormal heart ventricle morphology created_by: csmith creation_date: 2010-09-30T12:39:53Z [Term] id: MP:0010495 name: abnormal crista terminalis morphology def: "any structural anomaly of the vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0003922 ! abnormal heart right atrium morphology created_by: csmith creation_date: 2010-09-30T01:15:45Z [Term] id: MP:0010496 name: abnormal pectinate muscle morphology def: "any structural anomaly of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal pectinate fibers" EXACT [] is_a: MP:0010493 ! abnormal atrium myocardium morphology created_by: csmith creation_date: 2010-09-30T01:16:19Z [Term] id: MP:0010497 name: abnormal vena cava sinus morphology def: "any structural anomaly of the portion of the cavity of the right atrium of the heart that receives the blood from the vena cavae and is separated from the rest of the atrium by the crista terminalis" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal sinus of the vena cava" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology created_by: csmith creation_date: 2010-09-30T01:19:16Z [Term] id: MP:0010498 name: abnormal interventricular septum muscular part morphology def: "any structural anomaly of the muscular portion of the wall between the two lower chambers of the heart" [MGI:csmith] synonym: "abnormal muscular interventricular septum morphology" EXACT [] is_a: MP:0000281 ! abnormal interventricular septum morphology created_by: csmith creation_date: 2010-09-30T01:36:30Z [Term] id: MP:0010499 name: abnormal ventricle myocardium morphology def: "any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8] synonym: "abormal ventricular myocardium morphology" EXACT [] is_a: MP:0005294 ! abnormal heart ventricle morphology is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-09-30T01:40:18Z [Term] id: MP:0010500 name: myocardium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the heart myocardium" [MGI:csmith] synonym: "hypoplastic myocardium" EXACT [] is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-09-30T03:49:07Z [Term] id: MP:0010501 name: atrium myocardium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the atrial part of the heart myocardium" [MGI:csmith] subset: CvDC_Terms synonym: "atrial myocardium hypoplasia" EXACT [] is_a: MP:0010493 ! abnormal atrium myocardium morphology is_a: MP:0010500 ! myocardium hypoplasia created_by: csmith creation_date: 2010-09-30T03:49:21Z [Term] id: MP:0010502 name: ventricle myocardium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular part of the heart myocardium" [MGI:csmith] subset: CvDC_Terms synonym: "ventricular myocardium hypoplasia" EXACT [] is_a: MP:0010499 ! abnormal ventricle myocardium morphology is_a: MP:0010500 ! myocardium hypoplasia created_by: csmith creation_date: 2010-09-30T03:49:55Z [Term] id: MP:0010503 name: myocardial trabeculae hypoplasia def: "underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the heart, usually due to a reduced number of cells" [MGI:csmith] subset: CvDC_Terms synonym: "myocardium trabeculae hypoplasia" EXACT [] is_a: MP:0002189 ! abnormal myocardial trabeculae morphology is_a: MP:0010500 ! myocardium hypoplasia created_by: csmith creation_date: 2010-09-30T04:04:08Z [Term] id: MP:0010504 name: abnormal RR interval def: "anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [MGI:csmith] is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature created_by: csmith creation_date: 2010-09-30T04:10:08Z [Term] id: MP:0010505 name: abnormal T wave def: "any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles" [MGI:csmith] is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature created_by: csmith creation_date: 2010-09-30T04:12:12Z [Term] id: MP:0010506 name: prolonged RR interval def: "increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [MGI:csmith] synonym: "increased RR interval" EXACT [] synonym: "widened RR interval" EXACT [] is_a: MP:0010504 ! abnormal RR interval created_by: csmith creation_date: 2010-09-30T04:14:41Z [Term] id: MP:0010507 name: shortened RR interval def: "reduction in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [MGI:csmith] synonym: "decreased RR interval" EXACT [] synonym: "reduced RR interval" EXACT [] is_a: MP:0010504 ! abnormal RR interval created_by: csmith creation_date: 2010-09-30T04:15:01Z [Term] id: MP:0010508 name: abnormal heart electrocardiography waveform feature def: "any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm" [MGI:csmith, PMID:20410536] synonym: "abnormal cardiac electrocardiography" EXACT [] synonym: "abnormal ECG" EXACT [] synonym: "abnormal EKG" EXACT [] synonym: "abnormal heart ECG waveform features" RELATED [] is_a: MP:0003137 ! abnormal impulse conducting system conduction created_by: csmith creation_date: 2010-09-30T04:16:30Z [Term] id: MP:0010509 name: decreased P wave amplitude def: "reduction in the size (height or maximum displacement) of the P wave" [MGI:csmith] synonym: "reduced P wave amplitude" EXACT [] is_a: MP:0004070 ! abnormal P wave created_by: csmith creation_date: 2010-10-01T09:28:25Z [Term] id: MP:0010510 name: absent P wave def: "absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions" [MGI:csmith] is_a: MP:0004070 ! abnormal P wave created_by: csmith creation_date: 2010-10-01T09:32:59Z [Term] id: MP:0010511 name: shortened PR interval def: "decrease in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:csmith] synonym: "decreased PR interval" EXACT [] synonym: "reduced PR interval" EXACT [] synonym: "short PQ interval" EXACT [] is_a: MP:0003901 ! abnormal PR interval created_by: csmith creation_date: 2010-10-01T09:40:04Z [Term] id: MP:0010512 name: absent PR interval def: "absence of the ECG segment representing the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:csmith] is_a: MP:0003901 ! abnormal PR interval created_by: csmith creation_date: 2010-10-01T09:44:16Z [Term] id: MP:0010513 name: abnormal ventricular activation time def: "any anomaly in the length of time from the beginning of the Q wave to the peak of the R wave" [MGI:csmith] synonym: "abnormal VAT" EXACT [] is_a: MP:0003898 ! abnormal QRS complex created_by: csmith creation_date: 2010-10-01T10:02:20Z [Term] id: MP:0010514 name: fragmented QRS complex def: "changes in QRS waveform pattern including different RSR' patterns, additional R waves, notched or absent Q or S wave, or more than one R wave" [PMID:20186984] synonym: "fQRS" EXACT [] synonym: "QRS complex fragmentation" EXACT [] is_a: MP:0003898 ! abnormal QRS complex created_by: csmith creation_date: 2010-10-01T10:08:55Z [Term] id: MP:0010515 name: abnormal Q wave def: "any anomaly in the downward deflection in the ECG occuring after the PR interval that represents depolarization of the interventricular septum" [PMID:16939833] synonym: "abnormal septal Q wave" EXACT [] is_a: MP:0003898 ! abnormal QRS complex created_by: csmith creation_date: 2010-10-01T10:18:32Z [Term] id: MP:0010516 name: absent Q wave def: "absence of the downward deflection in the ECG occuring after the PR interval that represents depolarization of the interventricular septum" [MGI:csmith, PMID:16939833] is_a: MP:0010515 ! abnormal Q wave created_by: csmith creation_date: 2010-10-01T10:20:55Z [Term] id: MP:0010517 name: abnormal Bachmann's bundle morphology def: "any structural anomaly of the impulse conduction tract that originates in the sinoatrial node and transmits signal to the left atrium" [MGI:csmith] comment: According to Stedman's Medical Dictionary, the anatomic reality of this structure has been disputed. synonym: "abnormal anterior interatrial band morphology" EXACT [] synonym: "abnormal anterior internodal tract morphology" EXACT [] is_a: MP:0004123 ! abnormal impulse conducting system morphology created_by: csmith creation_date: 2010-10-01T10:36:16Z [Term] id: MP:0010519 name: atrioventricular block def: "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8] synonym: "AV block" EXACT [] is_a: MP:0006141 ! abnormal atrioventricular node conduction is_a: MP:0010559 ! heart block created_by: csmith creation_date: 2010-10-01T12:06:10Z [Term] id: MP:0010520 name: sinoatrial block alt_id: Fyler:7014 def: "a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "S-A block" EXACT [] synonym: "SA block" EXACT [] synonym: "sinauricular block" EXACT [] synonym: "sinuatrial block" EXACT [] synonym: "sinus block" RELATED [] is_a: MP:0006142 ! abnormal sinoatrial node conduction is_a: MP:0010559 ! heart block created_by: csmith creation_date: 2010-10-01T12:07:27Z [Term] id: MP:0010521 name: absent pulmonary artery def: "absence of the artery that arises from the right ventricle and conveys unaerated blood to the lungs" [MESH:A07.231.114.715] synonym: "pulmonary artery atresia" EXACT [] is_a: MP:0000484 ! abnormal pulmonary artery morphology created_by: csmith creation_date: 2010-10-01T12:21:39Z [Term] id: MP:0010522 name: calcified aorta def: "pathologic deposition of calcium salts in the aorta" [MGI:csmith] synonym: "aorta calcification" BROAD [] synonym: "aortic calcification" EXACT [] is_a: MP:0000272 ! abnormal aorta morphology is_a: MP:0006133 ! calcified artery created_by: csmith creation_date: 2010-10-01T12:23:16Z [Term] id: MP:0010523 name: calcified thoracic aorta def: "pathologic deposition of calcium salts in the part of the aorta that extends from the origin at the heart to the diaphragm" [MGI:csmith] synonym: "thoracic aorta calcification" BROAD [] is_a: MP:0010468 ! abnormal thoracic aorta morphology is_a: MP:0010522 ! calcified aorta created_by: csmith creation_date: 2010-10-01T12:27:30Z [Term] id: MP:0010524 name: calcified aortic arch def: "pathologic deposition of calcium salts in the convex portion of the aorta between the ascending and descending parts of the aorta" [MGI:csmith] synonym: "aortic arch calcification" BROAD [] is_a: MP:0004113 ! abnormal aortic arch morphology is_a: MP:0010523 ! calcified thoracic aorta created_by: csmith creation_date: 2010-10-01T12:29:32Z [Term] id: MP:0010525 name: abdominal aorta coarctation def: "a congenital focal constriction of the abdominal aorta" [MGI:csmith] synonym: "coarctation of abdominal aorta" EXACT [] is_a: MP:0003387 ! aorta coarctation is_a: MP:0009870 ! abnormal abdominal aorta morphology created_by: csmith creation_date: 2010-10-01T12:35:46Z [Term] id: MP:0010526 name: aortic arch coarctation def: "a congenital focal constriction of the aortic arch" [MGI:csmith] is_a: MP:0003387 ! aorta coarctation is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2010-10-01T12:40:37Z [Term] id: MP:0010527 name: bicuspid pulmonary valve alt_id: Fyler:1601 def: "the presence of two cusps or leaflets in the pulmonary valve instead of three" [MGI:csmith] subset: CvDC_Terms synonym: "bicuspid pulmonic valve" EXACT [] is_a: MP:0010602 ! abnormal pulmonary valve cusp morphology created_by: csmith creation_date: 2010-10-01T12:53:18Z [Term] id: MP:0010528 name: pulmonary vein hypoplasia def: "underdevelopment or reduced size of the veins that return oxygenated blood from the lungs to the left atrium of the heart, usually due to reduced cell number" [MGI:csmith] is_a: MP:0002726 ! abnormal pulmonary vein morphology created_by: csmith creation_date: 2010-10-01T02:07:18Z [Term] id: MP:0010529 name: hepatic arteriovenous malformation def: "congenital vascular anomaly in the liver characterized by direct communication between an artery and a vein without passing through the capillary bed" [MGI:csmith] synonym: "hepatic arteriovenous fistula" EXACT [] synonym: "liver arteriovenous fisutla" RELATED [] synonym: "liver arteriovenous malformation" EXACT [] is_a: MP:0006093 ! arteriovenous malformation is_a: MP:0009820 ! abnormal liver vasculature morphology created_by: csmith creation_date: 2010-10-01T02:28:56Z [Term] id: MP:0010530 name: cerebral arteriovenous malformation alt_id: Fyler:2201 def: "congenital vascular anomaly in the cerebrum characterized by direct communication between an artery and a vein without passing through the capillary bed" [MGI:csmith] subset: CvDC_Terms synonym: "cerebral arteriovenous fistula" EXACT [] is_a: MP:0004950 ! abnormal brain vasculature morphology is_a: MP:0006093 ! arteriovenous malformation created_by: csmith creation_date: 2010-10-01T02:29:30Z [Term] id: MP:0010531 name: gastrointestinal arteriovenous malformation def: "congenital vascular anomaly in the gastrointestinal system characterized by direct communication between an artery and a vein without passing through the capillary bed" [MGI:csmith] is_a: MP:0000462 ! abnormal digestive system morphology is_a: MP:0006093 ! arteriovenous malformation created_by: csmith creation_date: 2010-10-01T02:30:40Z [Term] id: MP:0010532 name: absent atrioventricular node def: "absence of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus" [MESH:A07.541.409.147] is_a: MP:0004114 ! abnormal atrioventricular node morphology created_by: csmith creation_date: 2010-10-01T02:39:18Z [Term] id: MP:0010533 name: atrioventricular node hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus" [MESH:A07.541.409.147] is_a: MP:0004114 ! abnormal atrioventricular node morphology created_by: csmith creation_date: 2010-10-01T02:39:42Z [Term] id: MP:0010534 name: calcified myocardium alt_id: Fyler:1889 def: "pathologic deposition of calcium salts in the myocardium" [MGI:csmith] subset: CvDC_Terms synonym: "myocardial calcification" RELATED [] is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-10-01T02:42:43Z [Term] id: MP:0010535 name: myocardial steatosis def: "an accumulation of fat deposits in the myocardium" [MGI:csmith] is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-10-01T02:44:57Z [Term] id: MP:0010536 name: Ebstein's malformation of tricuspid valve def: "a congenital downward displacement of the septal and posterior leaflets of the tricuspid valve into the inlet portion of the right ventricle" [http://emedicine.medscape.com, ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "Ebstein disease" EXACT [] synonym: "Ebstein's abnormaly of the tricuspid valve" EXACT [] synonym: "Ebstein's anomaly" EXACT [] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2010-10-01T02:51:23Z [Term] id: MP:0010537 name: tumor regression def: "a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body" [MGI:mnk] is_a: MP:0010639 ! altered tumor pathology created_by: csmith creation_date: 2010-10-01T03:25:26Z [Term] id: MP:0010538 name: increased level of surface class II molecules def: "increase in the concentration of major histocompatibility complex class II molecules expressed at the cell surface" [MGI:jbubier] is_a: MP:0005042 ! abnormal level of surface class II molecules created_by: csmith creation_date: 2010-10-01T03:29:41Z [Term] id: MP:0010539 name: decreased level of surface class II molecules def: "reduction in the concentration of major histocompatibility complex class II molecules expressed at the cell surface" [MGI:jbubier] synonym: "reduced level of surface class II molecules" EXACT [] is_a: MP:0005042 ! abnormal level of surface class II molecules created_by: csmith creation_date: 2010-10-01T03:30:09Z [Term] id: MP:0010540 name: long stride length def: "increased average distance between steps" [MGI:smb] synonym: "increased stride length" EXACT [] synonym: "large stride length" EXACT [] is_a: MP:0001406 ! abnormal gait created_by: csmith creation_date: 2010-10-01T03:44:04Z [Term] id: MP:0010541 name: aorta hypoplasia def: "underdevelopment or reduced size of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries, usually due to reduced cell number" [MGI:csmith] synonym: "aortic hypoplasia" EXACT [] is_a: MP:0000272 ! abnormal aorta morphology created_by: csmith creation_date: 2010-10-04T09:09:24Z [Term] id: MP:0010542 name: right ventricular myocardium hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the heart right ventricular part of the heart myocardium" [MGI:csmith] synonym: "parchment heart" EXACT [] synonym: "right ventricular hypoplasia" BROAD [] is_a: MP:0003649 ! decreased heart right ventricle size is_a: MP:0010502 ! ventricle myocardium hypoplasia created_by: csmith creation_date: 2010-10-04T09:14:52Z [Term] id: MP:0010543 name: aorta tubular hypoplasia def: "a diffuse narrowing of the lumen of the aorta" [MGI:csmith] comment: Hypoplasia in the term name is not necessarily consistent with usage in the rest of the ontology (underdevelopment vs narrowing of the lumen), but this is the term name used by cardiologists. subset: CvDC_Terms synonym: "aortic tubular hypoplasia" EXACT [] synonym: "narrow aorta lumen" EXACT [] synonym: "narrow aortic lumen" EXACT [] is_a: MP:0010541 ! aorta hypoplasia created_by: csmith creation_date: 2010-10-04T09:28:50Z [Term] id: MP:0010544 name: interrupted aorta def: "complete discontinuation or blockage in the aorta" [MGI:csmith] subset: CvDC_Terms is_a: MP:0000272 ! abnormal aorta morphology created_by: csmith creation_date: 2010-10-04T09:35:33Z [Term] id: MP:0010545 name: abnormal heart layer morphology def: "any structural anomaly of the laminar structure of the heart" [MGI:csmith] synonym: "abnormal cardiac layer morphology" EXACT [] synonym: "abnormal heart wall morphology" RELATED [] is_a: MP:0000266 ! abnormal heart morphology created_by: csmith creation_date: 2010-10-04T09:53:37Z [Term] id: MP:0010546 name: abnormal subendocardium layer morphology def: "any structural anomaly of the layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart" [ISBN:0-683-40008-8] synonym: "abnormal subendocardial layer morphology" EXACT [] is_a: MP:0010545 ! abnormal heart layer morphology created_by: csmith creation_date: 2010-10-04T09:54:44Z [Term] id: MP:0010547 name: abnormal mesocardium morphology def: "any structural anomaly of the layer of splanchnic mesoderm supporting the embryonic heart in the pericardial cavity; mesocardium normally regresses before birth" [ISBN:0-683-40008-8] is_a: MP:0000267 ! abnormal heart development created_by: csmith creation_date: 2010-10-04T10:07:54Z [Term] id: MP:0010548 name: abnormal dorsal mesocardium morphology def: "any structural anomaly of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult" [ISBN:0-683-40008-8] is_a: MP:0010547 ! abnormal mesocardium morphology created_by: csmith creation_date: 2010-10-04T10:08:09Z [Term] id: MP:0010549 name: absent dorsal mesocardium def: "absence of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult" [ISBN:0-683-40008-8] is_a: MP:0010548 ! abnormal dorsal mesocardium morphology created_by: csmith creation_date: 2010-10-04T10:08:24Z [Term] id: MP:0010551 name: abnormal coronary vessel morphology def: "any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation" [MGI:csmith] synonym: "abnormal coronary vasculature" EXACT [] synonym: "abnormal heart blood vessel morphology" RELATED [] is_a: MP:0000266 ! abnormal heart morphology created_by: csmith creation_date: 2010-10-04T01:15:24Z [Term] id: MP:0010552 name: abnormal HV interval def: "any anomaly in the time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity" [ISBN:0-683-40008-8] synonym: "abnormal H-V interval" EXACT [] is_a: MP:0010508 ! abnormal heart electrocardiography waveform feature created_by: csmith creation_date: 2010-10-04T01:22:27Z [Term] id: MP:0010553 name: prolonged HV interval def: "increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity" [ISBN:0-683-40008-8] synonym: "prolonged H-V interval" EXACT [] is_a: MP:0010552 ! abnormal HV interval created_by: csmith creation_date: 2010-10-04T01:24:29Z [Term] id: MP:0010554 name: shortened HV interval def: "decrease in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity" [ISBN:0-683-40008-8] synonym: "decreased HV interval" EXACT [] synonym: "reduced HV interval" EXACT [] synonym: "shortened H-V interval" EXACT [] is_a: MP:0010552 ! abnormal HV interval created_by: csmith creation_date: 2010-10-04T01:24:49Z [Term] id: MP:0010555 name: absent epicardium def: "absence of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart" [ISBN:0-683-40008-8] synonym: "absent lamina visceralis pericardii" EXACT [] synonym: "absent visceral layer of serous pericardium" EXACT [] synonym: "absent visceral serous pericardium " EXACT [] is_a: MP:0003057 ! abnormal epicardium morphology created_by: csmith creation_date: 2010-10-04T01:35:36Z [Term] id: MP:0010556 name: thin ventricle myocardium compact layer def: "reduced thickness of the ventricular portion of the outer, dense layer of the myocardium" [MGI:csmith] synonym: "thin ventricle myocardium compact zone" EXACT [] synonym: "thin ventricular myocardial compact layer" EXACT [] synonym: "thin ventricular myocardial compact zone" EXACT [] is_a: MP:0004057 ! thin myocardium compact layer is_a: MP:0010502 ! ventricle myocardium hypoplasia created_by: csmith creation_date: 2010-10-04T01:39:09Z [Term] id: MP:0010557 name: dilated pulmonary artery def: "the luminal space of the pulmonary artery is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] synonym: "pulmonary artery dilation" EXACT [] is_a: MP:0000484 ! abnormal pulmonary artery morphology created_by: csmith creation_date: 2010-10-04T01:50:53Z [Term] id: MP:0010558 name: sinus venosus hypoplasia def: "underdevelopment or reduced size of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite, usually due to a reduced number of cells" [MGI:csmith] is_a: MP:0003228 ! abnormal sinus venosus morphology created_by: csmith creation_date: 2010-10-04T01:54:25Z [Term] id: MP:0010559 name: heart block def: "a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart" [MGI:csmith] synonym: "cardiac block" EXACT [] synonym: "cardiac conduction block" EXACT [] is_a: MP:0003137 ! abnormal impulse conducting system conduction created_by: csmith creation_date: 2010-10-04T02:01:21Z [Term] id: MP:0010560 name: intraventricular block def: "absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium" [ISBN:0-683-40008-8] synonym: "IVB" EXACT [] is_a: MP:0010559 ! heart block created_by: csmith creation_date: 2010-10-04T02:03:24Z [Term] id: MP:0010561 name: absent coronary vessels def: "absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation" [MGI:csmith] is_a: MP:0010551 ! abnormal coronary vessel morphology created_by: csmith creation_date: 2010-10-04T02:15:21Z [Term] id: MP:0010562 name: absent sinus venosus def: "absence of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite" [MGI:csmith] is_a: MP:0003228 ! abnormal sinus venosus morphology created_by: csmith creation_date: 2010-10-04T02:32:55Z [Term] id: MP:0010563 name: increased heart right ventricle size alt_id: MP:0008773 def: "greater than average size of the right ventricle" [MGI:csmith] synonym: "enlarged heart right ventricle" EXACT [] is_a: MP:0008772 ! increased heart ventricle size is_a: MP:0010577 ! abnormal heart right ventricle size created_by: csmith creation_date: 2010-10-04T02:44:37Z [Term] id: MP:0010564 name: abnormal fetal ductus arteriosus morphology def: "any structural anomaly of the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth" [ISBN:0-683-40008-8] synonym: "abnormal arterial canal morphology" EXACT [] synonym: "abnormal arterial duct morphology" EXACT [] synonym: "abnormal Botallo duct morphology" EXACT [] synonym: "abnormal ductus Botallo morphology" EXACT [] is_a: MP:0000259 ! abnormal vascular development created_by: csmith creation_date: 2010-10-04T03:38:44Z [Term] id: MP:0010565 name: absent fetal ductus arteriosus def: "absence of the fetal vessel that connects the left pulmonary artery with the descending aorta" [ISBN:0-683-40008-8] synonym: "absent arterial canal" EXACT [] synonym: "absent arterial duct" EXACT [] synonym: "absent Botallo duct" EXACT [] synonym: "absent ductus Botallo" EXACT [] is_a: MP:0010564 ! abnormal fetal ductus arteriosus morphology created_by: csmith creation_date: 2010-10-04T03:39:09Z [Term] id: MP:0010566 name: abnormal left posterior bundle morphology def: "any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber" [ISBN:0-683-40008-8] synonym: "abnormal left bundle of atrioventricular bundle" EXACT [] synonym: "abnormal left crus of atrioventricular bundle" EXACT [] synonym: "abnormal left ventricular bundle branch morphology" EXACT [] is_a: MP:0004117 ! abnormal atrioventricular bundle morphology created_by: csmith creation_date: 2010-10-04T04:02:04Z [Term] id: MP:0010567 name: abnormal right bundle morphology def: "any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers" [ISBN:0-683-40008-8] synonym: "abnormal right bundle of atrioventricular bundle" EXACT [] synonym: "abnormal right crus of atrioventricular bundle" EXACT [] synonym: "abnormal right ventricular bundle morphology" EXACT [] is_a: MP:0004117 ! abnormal atrioventricular bundle morphology created_by: csmith creation_date: 2010-10-04T04:02:30Z [Term] id: MP:0010568 name: abnormal bulbus cordis morphology def: "any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches" [ISBN:0-683-40008-8] is_a: MP:0000270 ! abnormal heart tube morphology created_by: csmith creation_date: 2010-10-04T04:15:12Z [Term] id: MP:0010569 name: papillary muscle hypertrophy def: "increased bulk size of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves" [MGI:csmith] synonym: "enlarged papillary muscle" RELATED [] is_a: MP:0004058 ! abnormal ventricle papillary muscle morphology created_by: csmith creation_date: 2010-10-05T09:59:00Z [Term] id: MP:0010570 name: prolonged ST segment def: "increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized" [MGI:monikat] is_a: MP:0003897 ! abnormal ST segment created_by: csmith creation_date: 2010-10-05T10:06:28Z [Term] id: MP:0010571 name: shortened ST segment def: "reduction in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized" [MGI:monikat] synonym: "decreased ST segment" EXACT [] synonym: "reduced ST segment" EXACT [] is_a: MP:0003897 ! abnormal ST segment created_by: csmith creation_date: 2010-10-05T10:07:13Z [Term] id: MP:0010572 name: persistent right dorsal aorta def: "persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms" [MGI:csmith] synonym: "failure of right dorsal aorta regression" RELATED [] synonym: "right dorsal aorta remnant" EXACT [] is_a: MP:0004787 ! abnormal dorsal aorta morphology created_by: csmith creation_date: 2010-10-05T10:26:31Z [Term] id: MP:0010573 name: left dorsal aorta regression def: "regression of the left dorsal aorta which normally develops into the aortic arch; together with a persistent right dorsal aorta, a right aortic arch forms" [MGI:csmith] is_a: MP:0004787 ! abnormal dorsal aorta morphology created_by: csmith creation_date: 2010-10-05T10:31:29Z [Term] id: MP:0010574 name: aorta dilation alt_id: Fyler:2708 def: "the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] subset: CvDC_Terms synonym: "aortic dilation" EXACT [] is_a: MP:0000272 ! abnormal aorta morphology created_by: csmith creation_date: 2010-10-05T11:26:42Z [Term] id: MP:0010575 name: aortic arch dilation alt_id: Fyler:2706 def: "the luminal space of the aortic arch is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] subset: CvDC_Terms synonym: "aorta arch dilation" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2010-10-05T11:27:29Z [Term] id: MP:0010576 name: premature closure of the ductus arteriosus def: "premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth" [ISBN:0-683-40008-8, MGI:csmith] synonym: "premature regression of the ductus arteriousus" EXACT [] is_a: MP:0010564 ! abnormal fetal ductus arteriosus morphology created_by: csmith creation_date: 2010-10-05T11:44:24Z [Term] id: MP:0010577 name: abnormal heart right ventricle size def: "anomaly of the average size of the right ventricle compared to the average for a particular population" [MGI:csmith] is_a: MP:0003920 ! abnormal heart right ventricle morphology created_by: csmith creation_date: 2010-10-05T11:51:04Z [Term] id: MP:0010578 name: abnormal heart left ventricle size def: "anomaly of the average size of the left ventricle compared to the average for a particular population" [MGI:csmith] synonym: "abnormal left ventricle size" EXACT [] is_a: MP:0003921 ! abnormal heart left ventricle morphology created_by: csmith creation_date: 2010-10-05T11:52:23Z [Term] id: MP:0010579 name: increased heart left ventricle size alt_id: MP:0008774 def: "greater than average size of the left ventricle" [MGI:csmith] synonym: "enlarged heart left ventricle" EXACT [] synonym: "enlarged left ventricle" EXACT [] is_a: MP:0008772 ! increased heart ventricle size is_a: MP:0010578 ! abnormal heart left ventricle size created_by: csmith creation_date: 2010-10-05T11:52:42Z [Term] id: MP:0010580 name: decreased heart left ventricle size def: "less than average size of the left ventricle compared to the average for a particular population" [MGI:csmith] synonym: "decreased left ventricle size" EXACT [] synonym: "reduced left ventricle size" EXACT [] is_a: MP:0010578 ! abnormal heart left ventricle size created_by: csmith creation_date: 2010-10-05T11:52:57Z [Term] id: MP:0010581 name: abnormal atrium myocardial trabeculae morphology def: "any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002189 ! abnormal myocardial trabeculae morphology is_a: MP:0010493 ! abnormal atrium myocardium morphology created_by: csmith creation_date: 2010-10-05T11:59:35Z [Term] id: MP:0010582 name: abnormal bulbus cordis septation def: "anomaly in the process in which the distal swelling of the primitive heart tube separates into an inferior end, which will form much of the right ventricle, and a superior end, which first form an outflow channel called the conotruncus; the conotruncus will in turn give rise to the more proximal conus cordis and the more distal truncus arteriosus" [ISBN:0-683-40008-8] is_a: MP:0010568 ! abnormal bulbus cordis morphology created_by: csmith creation_date: 2010-10-05T01:53:41Z [Term] id: MP:0010583 name: abnormal conotruncus morphology def: "any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk" [ISBN:0-683-40008-8] synonym: "abnormal bulbus cordis, rostral half morphology" EXACT [] is_a: MP:0000270 ! abnormal heart tube morphology created_by: csmith creation_date: 2010-10-05T02:09:42Z [Term] id: MP:0010584 name: abnormal conotruncus septation def: "anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk" [MGI:csmith] synonym: "abnormal conotruncal septation" EXACT [] is_a: MP:0010583 ! abnormal conotruncus morphology created_by: csmith creation_date: 2010-10-05T02:16:30Z [Term] id: MP:0010585 name: abnormal conotruncal ridge morphology def: "any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith, PMID:8823298] synonym: "abnormal aortico-pulmonary spiral ridges" EXACT [] synonym: "abnormal bulbar ridge morphology" EXACT [] synonym: "abnormal conotruncal cushion morphology" EXACT [] synonym: "abnormal conotruncal cushions" EXACT [] synonym: "abnormal conotruncal ridges" EXACT [] synonym: "abnormal endocardial ridges" EXACT [] synonym: "abnormal outflow tract cushion morphology" EXACT [] synonym: "abnormal outflow tract endocardial cushion morphology" EXACT [] is_a: MP:0006126 ! abnormal outflow tract development is_a: MP:0010583 ! abnormal conotruncus morphology created_by: csmith creation_date: 2010-10-05T02:18:13Z [Term] id: MP:0010586 name: absent conotruncal ridges def: "absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith, PMID:8823298] synonym: "absent aortico-pulmonary spiral ridges" EXACT [] synonym: "absent bulbar ridges" EXACT [] synonym: "absent conotruncal cushion" EXACT [] synonym: "absent conotruncal cushions" EXACT [] synonym: "absent endocardial ridges" EXACT [] synonym: "absent outflow tract cushions" EXACT [] is_a: MP:0010585 ! abnormal conotruncal ridge morphology created_by: csmith creation_date: 2010-10-05T02:26:19Z [Term] id: MP:0010587 name: conotruncal ridge hypoplasia def: "underdevelopment or reduced size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith, PMID:8823298] synonym: "aortico-pulmonary spiral ridge hypoplasia" EXACT [] synonym: "bulbar ridge hypoplasia" EXACT [] synonym: "conotruncal cushion hypoplasia" EXACT [] synonym: "outflow tract cushion hypoplasia" EXACT [] is_a: MP:0010585 ! abnormal conotruncal ridge morphology created_by: csmith creation_date: 2010-10-05T02:26:38Z [Term] id: MP:0010588 name: conotruncal ridge hyperplasia def: "overdevelopment or increased size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith, PMID:8823298] synonym: "aortico-pulmonary spiral ridge hyperplasia" EXACT [] synonym: "bulbar ridge hyperplasia" EXACT [] synonym: "conotruncal cushion hyperplasia" EXACT [] synonym: "endocardial ridge hyperplasia" EXACT [] synonym: "outflow tract cushion hyperplasia" EXACT [] is_a: MP:0010585 ! abnormal conotruncal ridge morphology created_by: csmith creation_date: 2010-10-05T02:26:55Z [Term] id: MP:0010589 name: common truncal valve def: "a single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects" [MGI:csmith] is_a: MP:0000285 ! abnormal heart valve morphology is_a: MP:0010454 ! abnormal truncus arteriosus septation created_by: csmith creation_date: 2010-10-05T03:12:22Z [Term] id: MP:0010590 name: common truncal valve stenosis alt_id: Fyler:1440 def: "abnormal constriction or narrowing of the single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects" [MGI:csmith] subset: CvDC_Terms is_a: MP:0010589 ! common truncal valve created_by: csmith creation_date: 2010-10-05T03:13:47Z [Term] id: MP:0010591 name: enlarged aortic valve def: "an increase in the total area occupied by the aortic valve" [MGI:csmith] is_a: MP:0002747 ! abnormal aortic valve morphology created_by: csmith creation_date: 2010-10-05T04:03:55Z [Term] id: MP:0010592 name: abnormal atrioventricular septum morphology def: "any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve" [ISBN:0-683-40008-8] synonym: "abnormal AV septum morphology" EXACT [] is_a: MP:0006113 ! abnormal heart septum morphology created_by: csmith creation_date: 2010-10-06T09:21:20Z [Term] id: MP:0010593 name: thick aortic valve cusps alt_id: Fyler:1486 def: "an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness" [MGI:csmith] subset: CvDC_Terms synonym: "thick aortic valve leaflets" EXACT [] synonym: "thickened aortic valve cusps" EXACT [] synonym: "thickened aortic valve leaflets" EXACT [] is_a: MP:0010594 ! thick aortic valve is_a: MP:0010595 ! abnormal aortic valve cusp morphology is_a: MP:0011648 ! thick heart valve cusps created_by: csmith creation_date: 2010-10-05T04:04:39Z [Term] id: MP:0010594 name: thick aortic valve def: "an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness" [MGI:csmith] synonym: "TAV" EXACT [] synonym: "thickened aortic valve" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology created_by: csmith creation_date: 2010-10-05T04:05:30Z [Term] id: MP:0010595 name: abnormal aortic valve cusp morphology alt_id: Fyler:1480 def: "any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal aortic valve leaflet morphology" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology created_by: csmith creation_date: 2010-10-05T04:07:55Z [Term] id: MP:0010596 name: unicuspid aortic valve def: "the presence of one cusp and associated flap in the aortic valve instead of three" [MGI:csmith] is_a: MP:0010595 ! abnormal aortic valve cusp morphology created_by: csmith creation_date: 2010-10-05T04:12:50Z [Term] id: MP:0010597 name: absent aortic valve cusps alt_id: Fyler:1484 def: "absence of the three fibrous triangular components and associated flaps of the aortic valve" [MGI:csmith] subset: CvDC_Terms synonym: "absent aortic cusps" EXACT [] is_a: MP:0010595 ! abnormal aortic valve cusp morphology created_by: csmith creation_date: 2010-10-06T09:44:20Z [Term] id: MP:0010598 name: abnormal aortic valve anulus morphology def: "any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps" [MGI:csmith] synonym: "abnormal aortic anulus morphology" EXACT [] synonym: "abnormal aortic valvar anulus morphology" EXACT [] synonym: "abnormal fibrous ring of aortic valve" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology created_by: csmith creation_date: 2010-10-06T09:45:59Z [Term] id: MP:0010599 name: abnormal fetal atrioventricular canal septation def: "anomaly in the process by which the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum" [MGI:csmith] synonym: "abnormal partitioning of the atrioventricular canal" EXACT [] is_a: MP:0006107 ! abnormal fetal atrioventricular canal morphology created_by: csmith creation_date: 2010-10-06T09:58:37Z [Term] id: MP:0010600 name: enlarged pulmonary valve def: "an increase in the total area occupied by the pulmonary valve" [MGI:csmith] synonym: "enlarged pulmonic valve" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology created_by: csmith creation_date: 2010-10-06T10:39:15Z [Term] id: MP:0010601 name: thick pulmonary valve def: "an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness" [MGI:csmith] synonym: "thick pulmonic valve" EXACT [] synonym: "thickened pulmonary valve" EXACT [] synonym: "TPV" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology created_by: csmith creation_date: 2010-10-06T10:39:35Z [Term] id: MP:0010602 name: abnormal pulmonary valve cusp morphology alt_id: Fyler:1652 def: "any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve" [MGI:csmith] subset: CvDC_Terms synonym: "abnormal pulmonary valve leaflet morphology" EXACT [] synonym: "abnormal pulmonic valve cusp morphology" EXACT [] synonym: "abnormal pulmonic valve leaflet morphology" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology created_by: csmith creation_date: 2010-10-06T10:40:42Z [Term] id: MP:0010603 name: unicuspid pulmonary valve def: "the presence of one cusp and associated flap in the pulmonary valve instead of three" [MGI:csmith] synonym: "unicuspid pulmonic valve" EXACT [] is_a: MP:0010602 ! abnormal pulmonary valve cusp morphology created_by: csmith creation_date: 2010-10-06T10:41:21Z [Term] id: MP:0010604 name: absent pulmonary valve cusps def: "absence of the three fibrous triangular components and associated flaps of the pulmonary valve" [MGI:csmith] synonym: "absent pulmonary cusps" EXACT [] synonym: "absent pulmonic valve cusps" EXACT [] is_a: MP:0010602 ! abnormal pulmonary valve cusp morphology created_by: csmith creation_date: 2010-10-06T10:41:41Z [Term] id: MP:0010605 name: thick pulmonary valve cusps def: "an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness" [MGI:csmith] synonym: "thick pulmonary valve leaflets" EXACT [] synonym: "thickened pulmonary valve cusps" EXACT [] synonym: "thickened pulmonary valve leaflets" EXACT [] synonym: "thickened pulmonic valve cusps" EXACT [] is_a: MP:0010601 ! thick pulmonary valve is_a: MP:0010602 ! abnormal pulmonary valve cusp morphology is_a: MP:0011648 ! thick heart valve cusps created_by: csmith creation_date: 2010-10-06T10:41:59Z [Term] id: MP:0010606 name: abnormal pulmonary valve anulus morphology def: "any structural anomaly of the fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps" [MGI:csmith] synonym: "abnormal pulmonic valve anulus" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology created_by: csmith creation_date: 2010-10-06T10:42:37Z [Term] id: MP:0010607 name: common atrioventricular valve alt_id: Fyler:1170 def: "the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation" [MGI:csmith] subset: CvDC_Terms synonym: "AVSD AV valvar abnormality" BROAD [] synonym: "common AV valve" EXACT [] is_a: MP:0002745 ! abnormal atrioventricular valve morphology created_by: csmith creation_date: 2010-10-06T12:02:30Z [Term] id: MP:0010608 name: abnormal chordae tendineae morphology def: "any structural anomaly of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria" [ISBN:0-683-40008-8] synonym: "abnormal tendinous cords" EXACT [] is_a: MP:0002745 ! abnormal atrioventricular valve morphology created_by: csmith creation_date: 2010-10-06T12:08:58Z [Term] id: MP:0010609 name: absent chordae tendineae def: "absence of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria" [ISBN:0-683-40008-8] synonym: "absent tendinous cords" EXACT [] is_a: MP:0010608 ! abnormal chordae tendineae morphology created_by: csmith creation_date: 2010-10-06T12:11:51Z [Term] id: MP:0010610 name: patent aortic valve def: "the aortic valve remains open during the cardiac cycle" [MGI:csmith] synonym: "open aortic valve" EXACT [] is_a: MP:0002747 ! abnormal aortic valve morphology created_by: csmith creation_date: 2010-10-06T02:33:27Z [Term] id: MP:0010611 name: patent pulmonary valve def: "the pulmonary valve remains open during the cardiac cycle" [MGI:csmith] synonym: "open pulmonic valve" EXACT [] synonym: "patent pulmonic valve" EXACT [] is_a: MP:0002748 ! abnormal pulmonary valve morphology created_by: csmith creation_date: 2010-10-06T02:34:57Z [Term] id: MP:0010612 name: muscular subaortic stenosis def: "a narrowing or obstruction of the left ventricular outflow tract resulting from hypertrophy of the interventricular septum, which results in obstruction to blood flow" [ISBN:0-683-40008-8] synonym: "idiopathic hypertrophic subaortic stenosis" EXACT [] is_a: MP:0010448 ! heart left ventricle outflow tract stenosis created_by: csmith creation_date: 2010-10-06T03:15:43Z [Term] id: MP:0010613 name: abnormal mitral valve anulus morphology def: "any structural anomaly of the fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps" [MGI:csmith] synonym: "abnormal bicuspid valve anulus" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010614 name: abnormal mitral valve cusp morphology def: "any structural anomaly of the two fibrous components and associated flaps of the mitral valve" [MGI:csmith] synonym: "abnormal bicuspid valve cusp morphology" EXACT [] synonym: "abnormal bicuspid valve leaflet morphology" EXACT [] synonym: "abnormal mitral valve leaflet morphology" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010615 name: unicuspid mitral valve def: "the presence of one cusp and associated flap in the mitral valve instead of two" [MGI:csmith] synonym: "unicuspid bicuspid valve" EXACT [] is_a: MP:0010614 ! abnormal mitral valve cusp morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010616 name: absent mitral valve cusps def: "absence of the two fibrous components and associated flaps of the mitral valve" [MGI:csmith] synonym: "absent bicuspid valve cusps" EXACT [] synonym: "absent bicuspid valve leaflets" EXACT [] synonym: "absent mitral valve leaflets" EXACT [] is_a: MP:0010614 ! abnormal mitral valve cusp morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010617 name: thick mitral valve cusps def: "an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness" [MGI:csmith] synonym: "thick bicuspid valve cusps" EXACT [] synonym: "thick bicuspid valve leaflets" EXACT [] synonym: "thickened bicuspid valve cusps" EXACT [] synonym: "thickened bicuspid valve leaflets" EXACT [] synonym: "thickened mitral valve cusps" EXACT [] synonym: "thickened mitral valve leaflets" EXACT [] is_a: MP:0010614 ! abnormal mitral valve cusp morphology is_a: MP:0010620 ! thick mitral valve is_a: MP:0011648 ! thick heart valve cusps created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010618 name: enlarged mitral valve def: "an increase in the total area occupied by the mitral valve" [MGI:csmith] synonym: "enlarged bicuspid valve" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010619 name: patent mitral valve def: "the mitral valve remains open during the cardiac cycle" [MGI:csmith] synonym: "open bicuspid valve" EXACT [] synonym: "open mitral valve" EXACT [] synonym: "patent bicuspid valve" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010620 name: thick mitral valve def: "an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness" [MGI:csmith] synonym: "thick bicuspid valve" EXACT [] synonym: "thickened bicuspid valve" EXACT [] synonym: "thickened mitral valve" EXACT [] is_a: MP:0000286 ! abnormal mitral valve morphology created_by: csmith creation_date: 2010-10-06T03:48:15Z [Term] id: MP:0010621 name: abnormal tricuspid valve anulus morphology def: "any structural anomaly of the fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp)" [MGI:csmith] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010622 name: abnormal tricuspid valve cusp morphology def: "any structural anomaly of the three fibrous triangular components and associated flaps of the tricuspid valve" [MGI:csmith] synonym: "abnormal tricuspid valve leaflet morphology" EXACT [] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010623 name: bicuspid tricuspid valve def: "the presence of two cusps and associated flaps in the tricuspid valve instead of three" [MGI:csmith] is_a: MP:0010622 ! abnormal tricuspid valve cusp morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010624 name: unicuspid tricuspid valve def: "the presence of one cusp and associated flap in the tricuspid valve instead of three" [MGI:csmith] is_a: MP:0010622 ! abnormal tricuspid valve cusp morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010625 name: absent tricuspid valve cusps def: "absence of the three fibrous triangular components and associated flaps of the tricuspid valve" [MGI:csmith] synonym: "absent tricuspid valve leaflets" EXACT [] is_a: MP:0010622 ! abnormal tricuspid valve cusp morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010626 name: thick tricuspid valve cusps def: "an increase in the ratio of the tricuspid valve cusp wall thickness to the atrioventricular septum thickness" [MGI:csmith] synonym: "thick tricuspid valve leaflets" EXACT [] synonym: "thickened tricuspid valve cusps" EXACT [] synonym: "thickened tricuspid valve leaflets" EXACT [] is_a: MP:0010622 ! abnormal tricuspid valve cusp morphology is_a: MP:0010629 ! thick tricuspid valve is_a: MP:0011648 ! thick heart valve cusps created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010627 name: enlarged tricuspid valve def: "an increase in the total area occupied by the tricuspid valve" [MGI:csmith] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010628 name: patent tricuspid valve def: "the tricuspid valve remains open during the cardiac cycle" [MGI:csmith] synonym: "open tricuspid valve" EXACT [] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010629 name: thick tricuspid valve def: "an increase in the ratio of the tricuspid valve wall thickness to the atrioventricular septum thickness" [MGI:csmith] synonym: "thickened tricuspid valve" EXACT [] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2010-10-06T03:50:28Z [Term] id: MP:0010630 name: abnormal cardiac muscle tissue morphology def: "any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs" [ISBN:0-683-40008-8] comment: Do not confuse cardiac muscle tissue with the myocardium. Myocardium consists primarily of cardiac muscle but these structures are not identical. Cardiac muscle tissue also exists outside the heart so this term has not been made a child of heart myocardial layer directly. synonym: "abnormal cardiac muscle morphology" EXACT [] synonym: "abnormal heart muscle morphology" EXACT [] synonym: "cardiac muscle abnormalities" EXACT [] synonym: "cardiac muscle dysplasia" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology created_by: csmith creation_date: 2010-10-07T10:28:22Z [Term] id: MP:0010631 name: increased Q wave amplitude def: "increase in the size (height or maximum displacement) of the downward deflection in the ECG occuring after the PR interval that represents depolarization of the interventricular septum" [MGI:csmith, PMID:16939833] is_a: MP:0010515 ! abnormal Q wave created_by: csmith creation_date: 2010-10-07T11:25:47Z [Term] id: MP:0010632 name: cardiac muscle necrosis def: "pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage" [MGI:csmith] synonym: "cardiomyocyte necrosis" EXACT [] is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology created_by: csmith creation_date: 2010-10-07T10:40:22Z [Term] id: MP:0010633 name: myocardial hypertrophy def: "an increase in size of the myocardium, not due to increased cell number" [MGI:csmith] synonym: "myocardium hypertrophy" EXACT [] is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-10-07T11:57:14Z [Term] id: MP:0010634 name: increased QRS amplitude def: "increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects" [MGI:csmith] synonym: "increased R wave amplitude" EXACT [] is_a: MP:0003898 ! abnormal QRS complex created_by: csmith creation_date: 2010-10-07T01:51:18Z [Term] id: MP:0010635 name: aorta pulmonary collateral arteries alt_id: Fyler:2770 def: "small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus" [PMID:16483787] subset: CvDC_Terms synonym: "aorta-pulmonary collateral arteries" EXACT [] synonym: "aortico-pulmonary collateral arteries" EXACT [] synonym: "aorticopulmonary collateral arteries" EXACT [] synonym: "aorto-pulmonary collateral arteries" EXACT [] synonym: "aortopulmonary collateral artery" EXACT [] synonym: "major aorto-pulmonary collateral arteries" EXACT [] synonym: "MAPCAs" EXACT [] synonym: "systemic-pulmonary collateral arteries" EXACT [] is_a: MP:0000272 ! abnormal aorta morphology is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0004007 ! abnormal lung vasculature morphology created_by: csmith creation_date: 2010-10-07T02:22:15Z [Term] id: MP:0010636 name: bundle branch block def: "intraventricular block resulting from an interruption or partial or complete block of conduction in one of the two atrioventricular bundle branches; a prolonged QRS complex seen on an ECG indicates defects in bundle branch conduction; blocks in each branch result in a distinct QRS ECG waveform morphology" [ISBN:0-683-40008-8] synonym: "bundle-branch block" EXACT [] is_a: MP:0010560 ! intraventricular block created_by: csmith creation_date: 2010-10-07T02:53:36Z [Term] id: MP:0010637 name: sinus bradycardia alt_id: Fyler:7013 def: "a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0005333 ! decreased heart rate created_by: csmith creation_date: 2010-10-07T03:32:59Z [Term] id: MP:0010638 name: absent intercalated discs def: "absence of the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes" [MGI:anna, MGI:csmith] is_a: MP:0006267 ! abnormal intercalated disc morphology created_by: csmith creation_date: 2010-10-07T04:19:54Z [Term] id: MP:0010639 name: altered tumor pathology def: "any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state" [MGI:csmith] is_a: MP:0002006 ! tumorigenesis created_by: csmith creation_date: 2010-10-08T08:18:43Z [Term] id: MP:0010640 name: ventricular myocardium compact layer hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular portion of the outer, dense layer of the myocardium" [MGI:csmith] synonym: "ventricle myocardium compact layer hypoplasia" EXACT [] synonym: "ventricular myocardium compact zone hypoplasia" EXACT [] is_a: MP:0004056 ! abnormal myocardium compact layer morphology is_a: MP:0010502 ! ventricle myocardium hypoplasia created_by: csmith creation_date: 2010-10-08T02:12:02Z [Term] id: MP:0010641 name: descending aorta stenosis def: "diffuse constriction or narrowing of the descending aorta" [MGI:csmith] is_a: MP:0009869 ! abnormal descending aorta morphology is_a: MP:0010463 ! aorta stenosis created_by: csmith creation_date: 2010-10-12T09:34:26Z [Term] id: MP:0010642 name: absent third branchial arch def: "absence of the structure of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus" [MGI:smb] synonym: "absent third pharyngeal arch" EXACT [] is_a: MP:0006339 ! abnormal third branchial arch morphology created_by: csmith creation_date: 2010-10-12T10:09:00Z [Term] id: MP:0010643 name: absent fourth branchial arch def: "absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus" [MGI:smb] synonym: "absent fourth pharyngeal arch" EXACT [] is_a: MP:0006340 ! abnormal fourth branchial arch morphology created_by: csmith creation_date: 2010-10-12T10:15:42Z [Term] id: MP:0010644 name: absent sixth branchial arch def: "absence of the structure of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles" [MGI:smb] synonym: "absent sixth pharyngeal arch" EXACT [] is_a: MP:0006347 ! abnormal sixth branchial arch morphology created_by: csmith creation_date: 2010-10-12T10:16:01Z [Term] id: MP:0010645 name: failure of conotruncal ridge closure def: "failure of the conotruncal ridges to develop from the conotruncus, meet at the midline and fuse to form the conotruncal septum" [MGI:csmith] synonym: "failure of aortico-pulmonary spiral ridge fusion" EXACT [] synonym: "failure of bulbar ridge closure" EXACT [] synonym: "failure of conotruncal ridge fusion" EXACT [] synonym: "failure of endocardial ridge fusion" EXACT [] is_a: MP:0010585 ! abnormal conotruncal ridge morphology created_by: csmith creation_date: 2010-10-12T11:19:07Z [Term] id: MP:0010646 name: absent pulmonary vein def: "absence of the veins that return oxygenated blood from the lungs to the left atrium of the heart" [MGI:csmith] is_a: MP:0002726 ! abnormal pulmonary vein morphology created_by: csmith creation_date: 2010-10-12T11:21:15Z [Term] id: MP:0010647 name: left atrium hypoplasia alt_id: Fyler:3040 def: "underdevelopment or reduced size of the left upper chamber of the heart, usually due to reduced cell number" [MGI:csmith] subset: CvDC_Terms synonym: "left atrial hypoplasia" RELATED [] is_a: MP:0003923 ! abnormal heart left atrium morphology created_by: csmith creation_date: 2010-10-12T11:23:01Z [Term] id: MP:0010648 name: right atrium hypoplasia def: "underdevelopment or reduced size of the right upper chamber of the heart, usually due to reduced cell number" [MGI:csmith] synonym: "right atrial hypoplasia" EXACT [] is_a: MP:0003922 ! abnormal heart right atrium morphology created_by: csmith creation_date: 2010-10-12T11:23:22Z [Term] id: MP:0010649 name: dilated pulmonary trunk def: "the luminal space of the pulmonary trunk is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] is_a: MP:0000486 ! abnormal pulmonary trunk morphology created_by: csmith creation_date: 2010-10-12T12:59:44Z [Term] id: MP:0010650 name: abnormal aorticopulmonary septum morphology def: "any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta" [ISBN:0-683-40008-8] synonym: "abnormal aortico-pulmonary spiral septum morphology" EXACT [] synonym: "abnormal aorto-pulmonary septum morphology" EXACT [] synonym: "abnormal aortopulmonary septum morphology" EXACT [] is_a: MP:0006113 ! abnormal heart septum morphology created_by: csmith creation_date: 2010-10-13T11:38:13Z [Term] id: MP:0010651 name: aorticopulmonary septal defect def: "an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "aortopulmonary septal defect" EXACT [] synonym: "APSD" EXACT [] is_a: MP:0010650 ! abnormal aorticopulmonary septum morphology created_by: csmith creation_date: 2010-10-13T11:39:49Z [Term] id: MP:0010652 name: absent aorticopulmonary septum def: "absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta" [MGI:csmith] is_a: MP:0010651 ! aorticopulmonary septal defect created_by: csmith creation_date: 2010-10-13T11:44:21Z [Term] id: MP:0010653 name: abnormal Wallerian degeneration def: "any anomaly in the process of progressive degeneration of axons distal to an injury" [PMID:20345246] synonym: "abnormal anterograde degeneration" EXACT [] synonym: "abnormal orthograde degeneration" EXACT [] is_a: MP:0004811 ! abnormal neuron physiology is_a: MP:0005164 ! abnormal response to injury created_by: csmith creation_date: 2010-10-13T04:07:55Z [Term] id: MP:0010654 name: slow Wallerian degeneration def: "an increase in the length of time for the process of progressive degeneration of axons distal to an injury to occur" [PMID:20345246] is_a: MP:0010653 ! abnormal Wallerian degeneration created_by: csmith creation_date: 2010-10-13T04:09:22Z [Term] id: MP:0010655 name: absent cardiac jelly def: "absence of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart" [MGI:smb] is_a: MP:0009382 ! abnormal cardiac jelly morphology created_by: csmith creation_date: 2010-10-14T11:14:08Z [Term] id: MP:0010656 name: thick myocardium def: "increased thickness of the heart muscle layer" [MGI:csmith] is_a: MP:0005329 ! abnormal myocardium layer morphology created_by: csmith creation_date: 2010-10-15T03:47:11Z [Term] id: MP:0010657 name: absent pulmonary trunk def: "absence of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery" [MGI:csmith] is_a: MP:0000486 ! abnormal pulmonary trunk morphology created_by: csmith creation_date: 2010-10-18T03:22:36Z [Term] id: MP:0010658 name: thoracic aorta aneurysm def: "a protruding sac formed by the dilation of the wall of the part of the aorta that extends from the origin at the heart to the diaphragm, resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8] is_a: MP:0006278 ! aortic aneurysm is_a: MP:0010468 ! abnormal thoracic aorta morphology created_by: csmith creation_date: 2010-10-19T10:48:18Z [Term] id: MP:0010659 name: abdominal aorta aneurysm def: "a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8] is_a: MP:0006278 ! aortic aneurysm is_a: MP:0009870 ! abnormal abdominal aorta morphology created_by: csmith creation_date: 2010-10-19T10:48:39Z [Term] id: MP:0010660 name: descending thoracic aorta aneurysm def: "a protruding sac formed by the dilation of the wall of the of the part of the aorta that extends from the arch of the aorta to the diaphragm, resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8] is_a: MP:0009868 ! abnormal descending thoracic aorta morphology is_a: MP:0010658 ! thoracic aorta aneurysm created_by: csmith creation_date: 2010-10-19T10:50:52Z [Term] id: MP:0010661 name: ascending aorta aneurysm alt_id: Fyler:2310 def: "a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0009867 ! abnormal ascending aorta morphology is_a: MP:0010658 ! thoracic aorta aneurysm created_by: csmith creation_date: 2010-10-19T10:56:31Z [Term] id: MP:0010662 name: abnormal intersomitic artery morphology def: "any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal somitic artery morphology" EXACT [] is_a: MP:0003410 ! abnormal artery development created_by: csmith creation_date: 2010-10-19T11:32:55Z [Term] id: MP:0010663 name: abnormal brachiocephalic trunk morphology def: "any structural anomaly of the short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery" [MGI:csmith] synonym: "abnormal brachiocephalic artery morphology" EXACT [] synonym: "abnormal innominate artery morphology" EXACT [] is_a: MP:0011655 ! abnormal systemic artery morphology created_by: csmith creation_date: 2010-10-19T12:10:18Z [Term] id: MP:0010664 name: abnormal vitelline artery morphology def: "any structural anomaly of the paired arteries that carry blood to the yolk sac from the dorsal aorta; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal omphalomesenteric artery morphology" EXACT [] is_a: MP:0003229 ! abnormal vitelline vasculature morphology is_a: MP:0003410 ! abnormal artery development created_by: csmith creation_date: 2010-10-19T03:22:48Z [Term] id: MP:0010665 name: persistent vitelline artery def: "failure of the vitelline arteries to regress and remodel into the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult" [MGI:csmith] synonym: "persistent omphalomesenteric artery" EXACT [] is_a: MP:0010664 ! abnormal vitelline artery morphology created_by: csmith creation_date: 2010-10-19T03:26:06Z [Term] id: MP:0010666 name: abnormal vitelline vein morphology def: "any structural anomaly of the paired veins that carry blood from the yolk sac back to the embryo" [MGI:csmith] synonym: "abnormal omphalomesenteric vein morphology" EXACT [] is_a: MP:0003229 ! abnormal vitelline vasculature morphology is_a: MP:0003411 ! abnormal vein development created_by: csmith creation_date: 2010-10-19T03:38:28Z [Term] id: MP:0010667 name: abnormal umbilical vein morphology def: "any structural anomaly of the vein that returns oxygenated blood from the placenta to the fetus through the umbilical cord" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0001725 ! abnormal umbilical cord morphology is_a: MP:0003411 ! abnormal vein development created_by: csmith creation_date: 2010-10-19T03:45:54Z [Term] id: MP:0010668 name: abnormal hepatic portal vein morphology def: "any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal HPV" EXACT [] synonym: "abnormal portal vein morphology" EXACT [] synonym: "abnormal PV" EXACT [] is_a: MP:0002725 ! abnormal vein morphology created_by: csmith creation_date: 2010-10-20T09:31:49Z [Term] id: MP:0010669 name: abnormal activation-induced B cell apoptosis def: "any anomaly in the process in which B cell apoptosis occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death" [PMID:11032170] synonym: "abnormal activated B cell apoptosis" EXACT [] synonym: "abnormal activation-induced B-cell apoptosis" EXACT [] synonym: "abnormal activation-induced cell death of B cells" EXACT [] synonym: "abnormal activation-induced cell death of B lymphocytes" EXACT [] synonym: "abnormal activation-induced cell death of B-cells" EXACT [] synonym: "abnormal activation-induced cell death of B-lymphocytes" EXACT [] synonym: "abnormal AICD" BROAD [] synonym: "abnormal antigen-driven apoptosis" BROAD [] xref: GO:0071948 is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0008781 ! abnormal B cell apoptosis created_by: csmith creation_date: 2010-10-20T10:46:11Z [Term] id: MP:0010670 name: abnormal activation-induced cell death of T cells def: "any anomaly in the process of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors" [PMID:12752672] synonym: "abnormal activated T cell apoptosis" EXACT [] synonym: "abnormal activation-induced cell death of T lymphocytes" EXACT [] synonym: "abnormal activation-induced cell death of T-cells" EXACT [] synonym: "abnormal activation-induced cell death of T-lymphocytes" EXACT [] synonym: "abnormal AICD" BROAD [] synonym: "abnormal antigen-driven apoptosis" BROAD [] xref: GO:0006924 is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0006412 ! abnormal T cell apoptosis created_by: csmith creation_date: 2010-10-20T10:55:08Z [Term] id: MP:0010671 name: abnormal Tc17 cell morphology def: "any structural anomaly of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg" [CL:0002128, PMID:19201830] comment: Found in the CD27-positive CD28-positive or CD27-negative CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative. synonym: "abnormal Tc17 T cell morphology" EXACT [] synonym: "abnormal Tc17 T lymphocyte morphology" EXACT [] synonym: "abnormal Tc17 T-cell morphology" EXACT [] synonym: "abnormal Tc17 T-lymphocyte morphology" EXACT [] is_a: MP:0005010 ! abnormal CD8-positive T cell morphology created_by: csmith creation_date: 2010-10-20T11:11:44Z [Term] id: MP:0010672 name: increased Tc17 cell number def: "increased cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg" [CL:0002128, PMID:19201830] comment: Found in the CD27-positive CD28-positive or CD27-negative CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative. synonym: "increased Tc17 T cell number" EXACT [] synonym: "increased Tc17 T lymphocyte number" EXACT [] synonym: "increased Tc17 T-cell number" EXACT [] synonym: "increased Tc17 T-lymphocyte number" EXACT [] is_a: MP:0008078 ! increased CD8-positive T cell number is_a: MP:0010671 ! abnormal Tc17 cell morphology created_by: csmith creation_date: 2010-10-20T11:16:23Z [Term] id: MP:0010673 name: decreased Tc17 cell number def: "reduced cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg" [CL:0002128, PMID:19201830] comment: Found in the CD27-positive CD28-positive or CD27-negative CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative. synonym: "decreased Tc17 T cell number" EXACT [] synonym: "decreased Tc17 T lymphocyte number" EXACT [] synonym: "decreased Tc17 T-cell number" EXACT [] synonym: "decreased Tc17 T-lymphocyte number" EXACT [] synonym: "reduced Tc17 cell number" EXACT [] synonym: "reduced Tc17 T cell number" EXACT [] synonym: "reduced Tc17 T lymphocyte number" EXACT [] synonym: "reduced Tc17 T-cell number" EXACT [] synonym: "reduced Tc17 T-lymphocyte number" EXACT [] is_a: MP:0008079 ! decreased CD8-positive T cell number is_a: MP:0010671 ! abnormal Tc17 cell morphology created_by: csmith creation_date: 2010-10-20T11:16:23Z [Term] id: MP:0010674 name: increased activation-induced B cell apoptosis def: "increased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death" [PMID:11032170] synonym: "increased activated B cell apoptosis" EXACT [] synonym: "increased activation-induced B-cell apoptosis" EXACT [] synonym: "increased activation-induced cell death of B cells" EXACT [] synonym: "increased activation-induced cell death of B lymphocytes" EXACT [] synonym: "increased activation-induced cell death of B-cells" EXACT [] synonym: "increased activation-induced cell death of B-lymphocytes" EXACT [] synonym: "increased AICD" BROAD [] synonym: "increased antigen-driven apoptosis" BROAD [] xref: GO:0071948 is_a: MP:0006042 ! increased apoptosis is_a: MP:0010669 ! abnormal activation-induced B cell apoptosis created_by: csmith creation_date: 2010-10-20T11:53:52Z [Term] id: MP:0010675 name: decreased activation-induced B cell apoptosis def: "decreased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death" [PMID:11032170] synonym: "decreased activated B cell apoptosis" EXACT [] synonym: "decreased activation-induced B-cell apoptosis" EXACT [] synonym: "decreased activation-induced cell death of B cells" EXACT [] synonym: "decreased activation-induced cell death of B lymphocytes" EXACT [] synonym: "decreased activation-induced cell death of B-cells" EXACT [] synonym: "decreased activation-induced cell death of B-lymphocytes" EXACT [] synonym: "decreased AICD" BROAD [] synonym: "decreased antigen-driven apoptosis" BROAD [] synonym: "reduced activated B cell apoptosis" EXACT [] synonym: "reduced activation-induced B cell apoptosis" EXACT [] synonym: "reduced activation-induced B-cell apoptosis" EXACT [] synonym: "reduced activation-induced cell death of B cells" EXACT [] synonym: "reduced activation-induced cell death of B lymphocytes" EXACT [] synonym: "reduced activation-induced cell death of B-cells" EXACT [] synonym: "reduced activation-induced cell death of B-lymphocytes" EXACT [] synonym: "reduced AICD" BROAD [] synonym: "reduced antigen-driven apoptosis" BROAD [] xref: GO:0071948 is_a: MP:0006043 ! decreased apoptosis is_a: MP:0010669 ! abnormal activation-induced B cell apoptosis created_by: csmith creation_date: 2010-10-20T11:53:52Z [Term] id: MP:0010676 name: increased activation-induced cell death of T cells def: "increased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors" [PMID:12752672] synonym: "increased activated T cell apoptosis" EXACT [] synonym: "increased activation-induced cell death of T lymphocytes" EXACT [] synonym: "increased activation-induced cell death of T-cells" EXACT [] synonym: "increased activation-induced cell death of T-lymphocytes" EXACT [] synonym: "increased AICD" BROAD [] synonym: "increased antigen-driven apoptosis" BROAD [] xref: GO:0006924 is_a: MP:0006042 ! increased apoptosis is_a: MP:0010670 ! abnormal activation-induced cell death of T cells created_by: csmith creation_date: 2010-10-20T11:55:01Z [Term] id: MP:0010677 name: decreased activation-induced cell death of T cells def: "decreased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors" [PMID:12752672] synonym: "decreased activated T cell apoptosis" EXACT [] synonym: "decreased activation-induced cell death of T lymphocytes" EXACT [] synonym: "decreased activation-induced cell death of T-cells" EXACT [] synonym: "decreased activation-induced cell death of T-lymphocytes" EXACT [] synonym: "decreased AICD" BROAD [] synonym: "decreased antigen-driven apoptosis" BROAD [] synonym: "reduced activated T cell apoptosis" EXACT [] synonym: "reduced activation-induced cell death of T cells" EXACT [] synonym: "reduced activation-induced cell death of T lymphocytes" EXACT [] synonym: "reduced activation-induced cell death of T-cells" EXACT [] synonym: "reduced activation-induced cell death of T-lymphocytes" EXACT [] synonym: "reduced AICD" BROAD [] synonym: "reduced antigen-driven apoptosis" BROAD [] xref: GO:0006924 is_a: MP:0006043 ! decreased apoptosis is_a: MP:0010670 ! abnormal activation-induced cell death of T cells created_by: csmith creation_date: 2010-10-20T11:55:01Z [Term] id: MP:0010678 name: abnormal skin adnexa morphology def: "any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails" [MGI:csmith] synonym: "abnormal skin accessory structure morphology" EXACT [] synonym: "abnormal skin appendage morphology" EXACT [] is_a: MP:0010771 ! integument phenotype created_by: csmith creation_date: 2010-10-20T12:27:31Z [Term] id: MP:0010679 name: abnormal arrector pilli muscle morphology def: "any structural anomaly of the bundles of smooth muscle fibers that connect the hair follicle with the papillary layer of the dermis, and serve to pull hair shafts erect" [PMID:19211055] synonym: "abnormal arrector mucle of hair" EXACT [] synonym: "abnormal errector muscle of hair" EXACT [] synonym: "abnormal errector pilli muscle" EXACT [] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0010678 ! abnormal skin adnexa morphology created_by: csmith creation_date: 2010-10-20T12:37:40Z [Term] id: MP:0010680 name: abnormal skin adnexa physiology def: "any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails" [MGI:csmith] synonym: "abnormal skin accessory structure physiology" EXACT [] synonym: "abnormal skin appendage physiology" EXACT [] is_a: MP:0010771 ! integument phenotype created_by: csmith creation_date: 2010-10-20T12:45:35Z [Term] id: MP:0010681 name: abnormal hair follicle bulb morphology def: "any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells" [PMID:19211055] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-20T12:58:46Z [Term] id: MP:0010682 name: abnormal hair follicle infundibulum morphology def: "any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface" [PMID:19211055] synonym: "abnormal hair follicle upper segment morphology" EXACT [] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-20T01:04:57Z [Term] id: MP:0010683 name: dilated hair follicle infundibulum def: "the luminal space of the hair follicle infundibulum is increased in volume or area, sometimes with an increase of contained fluid or sebum" [MGI:csmith] is_a: MP:0010682 ! abnormal hair follicle infundibulum morphology is_a: MP:0010699 ! dilated hair follicles created_by: csmith creation_date: 2010-10-20T01:06:46Z [Term] id: MP:0010684 name: abnormal hair follicle outer root sheath morphology def: "any structural anomaly of the outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb" [PMID:19211055] synonym: "abnormal hair follicle epidermal root sheath morphology" EXACT [] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-20T01:25:08Z [Term] id: MP:0010685 name: abnormal hair follicle inner root sheath morphology def: "any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle" [PMID:19211055] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-20T01:25:34Z [Term] id: MP:0010686 name: abnormal hair follicle matrix region morphology def: "any structural anomaly of the bulb region adjacent to the dermal papilla that contains rapidly proliferating matrix cells that give rise to the various cell lineages of the hair shaft and inner root sheath" [PMID:19211055] is_a: MP:0010681 ! abnormal hair follicle bulb morphology created_by: csmith creation_date: 2010-10-20T01:29:34Z [Term] id: MP:0010687 name: absent hair follicle dermal papilla def: "absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts" [PMID:19211055] is_a: MP:0003813 ! abnormal hair follicle dermal papilla morphology created_by: csmith creation_date: 2010-10-20T02:43:06Z [Term] id: MP:0010688 name: hair follicle outer rooth sheath hyperplasia def: "overdevelopment or increased size, usually due to a increased number of cells, outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb" [MGI:csmith] synonym: "hair follicle epidermal root sheath hyperplasia" EXACT [] is_a: MP:0010684 ! abnormal hair follicle outer root sheath morphology created_by: csmith creation_date: 2010-10-20T03:16:08Z [Term] id: MP:0010689 name: thin hair follicle outer rooth sheath def: "reduced thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb" [MGI:csmith] synonym: "thin hair follicle epidermal root sheath" EXACT [] is_a: MP:0010684 ! abnormal hair follicle outer root sheath morphology created_by: csmith creation_date: 2010-10-20T03:16:57Z [Term] id: MP:0010690 name: thick hair follicle outer rooth sheath def: "increased thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb" [MGI:csmith] synonym: "thick hair follicle epidermal root sheath" EXACT [] is_a: MP:0010684 ! abnormal hair follicle outer root sheath morphology created_by: csmith creation_date: 2010-10-20T03:16:57Z [Term] id: MP:0010691 name: hair follicle inner rooth sheath hyperplasia def: "overdevelopment or increased size, usually due to a increased number of cells, of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath" [MGI:csmith] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology created_by: csmith creation_date: 2010-10-20T03:17:44Z [Term] id: MP:0010692 name: thick hair follicle inner rooth sheath def: "increased thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath" [MGI:csmith] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology created_by: csmith creation_date: 2010-10-20T03:17:44Z [Term] id: MP:0010693 name: thin hair follicle inner rooth sheath def: "reduced thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath" [MGI:csmith] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology created_by: csmith creation_date: 2010-10-20T03:17:44Z [Term] id: MP:0010694 name: abnormal hair follicle isthmus morphology def: "any structural anomaly of the middle part of the hair follicle that extends from the sebaceous duct to the bulge" [PMID:19211055] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-20T03:23:41Z [Term] id: MP:0010695 name: abnormal blood pressure regulation def: "any anomaly in the process that modulates the force with which blood travels through the circulatory system, which is controlled by a balance of processes that increase pressure and decrease pressure" [GO:0008217] synonym: "abnormal blood pressure homeostasis" EXACT [] synonym: "abnormal control of blood pressure" EXACT [] synonym: "abnormal regulation of blood pressure" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology created_by: csmith creation_date: 2010-10-20T03:45:01Z [Term] id: MP:0010696 name: increased siderocyte number def: "the presence of abnormal red blood cells that have iron granule deposits that are not part of the hemoglobin" [MGI:csmith] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2010-10-20T03:48:30Z [Term] id: MP:0010697 name: abnormal systemic arterial blood pressure regulation def: "anomaly in the process that modulates the force with which blood travels through the systemic arterial circulatory system" [GO:0003073] is_a: MP:0010695 ! abnormal blood pressure regulation created_by: csmith creation_date: 2010-10-20T03:51:25Z [Term] id: MP:0010698 name: abnormal impulsive behavior control def: "any anomaly in the ability of an individual to exert restraint over behavior" [MGI:smb] synonym: "abnormal impulsivity" EXACT [] synonym: "behavioral disinhibition" EXACT [] is_a: MP:0004924 ! abnormal behavior created_by: csmith creation_date: 2010-10-20T04:16:12Z [Term] id: MP:0010699 name: dilated hair follicles def: "the luminal space of the hair follicle is increased in volume or area, sometimes with an increase of contained fluid or sebum" [MGI:csmith] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-21T10:40:05Z [Term] id: MP:0010700 name: hair follicle comedo def: "a dilated or widened hair follicle filled with keratin squamae (skin debris), bacteria, and/or sebum (oil)" [http://www.medterms.com] synonym: "blackhead" NARROW [] synonym: "hair follicle comedones" EXACT [] synonym: "whitehead" NARROW [] is_a: MP:0000377 ! abnormal hair follicle morphology created_by: csmith creation_date: 2010-10-21T10:55:28Z [Term] id: MP:0010701 name: fusion of atlas and odontoid process def: "the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis" [MGI:csmith] synonym: "C1 anterior arch and dens fusion" EXACT [] synonym: "fusion of AA and dens" EXACT [] is_a: MP:0004607 ! abnormal cervical atlas morphology is_a: MP:0004620 ! cervical vertebral fusion is_a: MP:0004659 ! abnormal odontoid process morphology created_by: csmith creation_date: 2010-10-22T11:38:18Z [Term] id: MP:0010702 name: split cervical atlas def: "the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft" [MGI:csmith] synonym: "bifid atlas" EXACT [] synonym: "C1 bifid" EXACT [] is_a: MP:0004607 ! abnormal cervical atlas morphology created_by: csmith creation_date: 2010-10-22T11:55:16Z [Term] id: MP:0010703 name: split cervical axis def: "the second cervical vertebra (C2) is divided into two branches by a median cleft" [MGI:csmith] synonym: "bifid axis" EXACT [] synonym: "C2 bifid" EXACT [] is_a: MP:0004608 ! abnormal cervical axis morphology created_by: csmith creation_date: 2010-10-22T11:57:04Z [Term] id: MP:0010704 name: abnormal optic canal morphology def: "any structural anomaly of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the opthalmic artery" [ISBN:0-683-40008-8] synonym: "abnormal optic foramen morphology" EXACT [] is_a: MP:0004457 ! abnormal orbitosphenoid bone morphology created_by: csmith creation_date: 2010-10-22T01:51:33Z [Term] id: MP:0010705 name: absent metoptic pilar def: "absence of the posterior border of the optic nerve foramen" [PMID:11493527] synonym: "agenesis of the metoptic pilar" EXACT [] synonym: "metoptic pilar agenesis" EXACT [] is_a: MP:0010704 ! abnormal optic canal morphology created_by: csmith creation_date: 2010-10-22T02:05:04Z [Term] id: MP:0010706 name: ventral rotation of lens def: "a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point" [PMID:7923367] is_a: MP:0001308 ! abnormal lens polarity created_by: csmith creation_date: 2010-10-22T02:17:27Z [Term] id: MP:0010707 name: decreased ventral retina size def: "decreasd size of the ventral portion of the retina" [MGI:csmith, PMID:7923367] synonym: "short ventral retina" EXACT [] synonym: "small ventral retina" EXACT [] is_a: MP:0001325 ! abnormal retina morphology created_by: csmith creation_date: 2010-10-22T02:31:14Z [Term] id: MP:0010708 name: absent iris stroma def: "absence of the lamellated vascular connective tissue of the iris" [ISBN:0-683-40008-8] synonym: "agenesis of iris stroma" EXACT [] synonym: "iris stroma agenesis" EXACT [] is_a: MP:0005208 ! abnormal iris stroma morphology created_by: csmith creation_date: 2010-10-22T03:02:33Z [Term] id: MP:0010709 name: absent anterior chamber def: "absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens" [MESH:A09.371.060.067] is_a: MP:0005205 ! abnormal eye anterior chamber morphology created_by: csmith creation_date: 2010-10-22T03:03:52Z [Term] id: MP:0010710 name: absent sclera def: "absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea" [MESH:A09.371.784] synonym: "absent sclerotic coat" EXACT [] synonym: "absent tunica sclerotica" EXACT [] synonym: "agenesis of the sclera" EXACT [] synonym: "sclera agenesis" EXACT [] is_a: MP:0002698 ! abnormal sclera morphology created_by: csmith creation_date: 2010-10-22T03:05:29Z [Term] id: MP:0010711 name: persistent hyperplastic primary vitreous def: "persistence of the embryonic fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body" [MGI:csmith] synonym: "persistent hyperplasia of primary vitreous" EXACT [] synonym: "PHPV" RELATED [] synonym: "retrolenticular membrane" EXACT [] is_a: MP:0009620 ! abnormal primary vitreous morphology created_by: csmith creation_date: 2010-10-22T03:09:04Z [Term] id: MP:0010712 name: absent nasolacrimal duct def: "absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity" [ISBN:0-683-40008-8] synonym: "absent nasal duct" EXACT [] synonym: "absent naso-lacrimal duct" EXACT [] is_a: MP:0008969 ! abnormal nasolacrimal duct morphology created_by: csmith creation_date: 2010-10-22T03:26:40Z [Term] id: MP:0010713 name: corneal-lenticular stalk def: "persistent central adhesion between the lens and the cornea" [PMID:18653562] synonym: "central corneal adhesion to lens" EXACT [] synonym: "corneal-lens adhesions" EXACT [] is_a: MP:0001303 ! abnormal lens morphology is_a: MP:0001312 ! abnormal cornea morphology created_by: csmith creation_date: 2010-10-22T03:31:39Z [Term] id: MP:0010714 name: iris coloboma def: "congenital defect of the iris in which some part of the structure is absent" [MGI:csmith] synonym: "coloboma iridis" EXACT [] synonym: "coloboma of the iris" EXACT [] synonym: "iridodiastasis" NARROW [] is_a: MP:0001322 ! abnormal iris morphology is_a: MP:0005262 ! coloboma created_by: csmith creation_date: 2010-10-22T03:42:03Z [Term] id: MP:0010715 name: retina coloboma def: "congenital defect of the retina in which some part of the structure is absent" [MGI:csmith] synonym: "coloboma of the retina" EXACT [] synonym: "retinal coloboma" EXACT [] is_a: MP:0001325 ! abnormal retina morphology is_a: MP:0005262 ! coloboma created_by: csmith creation_date: 2010-10-22T03:43:32Z [Term] id: MP:0010716 name: optic disc coloboma def: "congenital defect of the optic disc in which some part of the structure is absent" [MGI:csmith] synonym: "coloboma of the optic disc" EXACT [] synonym: "ODC" EXACT [] is_a: MP:0005262 ! coloboma is_a: MP:0008259 ! abnormal optic disc morphology created_by: csmith creation_date: 2010-10-22T03:43:48Z [Term] id: MP:0010717 name: optic nerve coloboma def: "congenital defect of the optic nerve in which some part of the structure is absent" [MGI:csmith] synonym: "coloboma of the optic nerve" EXACT [] is_a: MP:0005262 ! coloboma created_by: csmith creation_date: 2010-10-22T03:44:14Z [Term] id: MP:0010718 name: choroid coloboma def: "congenital defect of the choroid and retinal pigment epithelium in which some part of the structures are absent, exposing the sclera; the defect is usually situated below the optic disk in the region of fetal (choroid) fissure" [ISBN:0-683-40008-8] synonym: "choroidal coloboma" EXACT [] synonym: "coloboma of the choroid" EXACT [] is_a: MP:0005262 ! coloboma created_by: csmith creation_date: 2010-10-22T03:45:03Z [Term] id: MP:0010719 name: ciliary body coloboma def: "congenital defect of the ciliary body in which some part of the structure is absent" [MGI:csmith] synonym: "coloboma of the ciliary body" EXACT [] is_a: MP:0005099 ! abnormal ciliary body morphology is_a: MP:0005262 ! coloboma created_by: csmith creation_date: 2010-10-22T03:59:36Z [Term] id: MP:0010720 name: absent sublingual duct def: "absence of the canals that drain the sublingual gland" [MGI:csmith] synonym: "agenesis of sublingual duct" RELATED [] synonym: "sublingual duct agenesis" EXACT [] is_a: MP:0009527 ! abnormal sublingual duct morphology created_by: csmith creation_date: 2010-10-22T04:07:46Z [Term] id: MP:0010721 name: short sublingual duct def: "decreased length of the canals that drain the sublingual gland" [MGI:csmith] is_a: MP:0009527 ! abnormal sublingual duct morphology created_by: csmith creation_date: 2010-10-22T04:09:06Z [Term] id: MP:0010722 name: persistent cervical thymus def: "the solid lobe of the thymus fails to descend to the mediastinum" [MGI:csmith] synonym: "remnant cervical thymus" RELATED [] synonym: "undescended cervical thymus" EXACT [] is_a: MP:0000704 ! abnormal thymus development created_by: csmith creation_date: 2010-10-22T04:12:07Z [Term] id: MP:0010723 name: paternal effect def: "expression of a phenotypic trait in a male animal's offspring that is dependent on the paternal genotype" [MGI:llw2] comment: Temporary. This is a term that describes the expression of a phenotype, not the phenotype itself. is_a: MP:0005395 ! other phenotype created_by: csmith creation_date: 2010-10-26T09:36:27Z [Term] id: MP:0010724 name: thick interventricular septum def: "increased thickness of the wall between the two lower chambers of the heart" [MGI:csmith] is_a: MP:0000281 ! abnormal interventricular septum morphology created_by: csmith creation_date: 2010-10-26T01:11:57Z [Term] id: MP:0010725 name: thin interventricular septum def: "decreased thickness of the wall between the two lower chambers of the heart" [MGI:csmith] is_a: MP:0000281 ! abnormal interventricular septum morphology created_by: csmith creation_date: 2010-10-26T01:12:13Z [Term] id: MP:0010726 name: abnormal collateral sprouting def: "aberrant response of a neuron to form new neuritic processes (sprouts) that emerge from the nerve fibers or terminal arborizations in response to nerve injury (such as section or denervation), application of neurotoxin, or target tissue atrophy (usually due to disease)" [MGI:csmith] synonym: "abnormal neuron collateral sprouting" RELATED [] is_a: MP:0004811 ! abnormal neuron physiology created_by: csmith creation_date: 2010-11-02T10:06:03Z [Term] id: MP:0010727 name: increased glioblastoma incidence def: "greater than the expected number of a fast-growing type of central nervous system tumor that forms from glial tissue of the brain and spinal cord and has cells that look very different from normal cells; glioblastoma usually occurs in adults and affects the brain more often than the spinal cord" [NCI:CDRID45698] synonym: "increased GBM incidence" NARROW [] synonym: "increased glioblastoma multiforme incidence" NARROW [] synonym: "increased grade IV astrocytoma incidence" EXACT [] is_a: MP:0008021 ! blastoma is_a: MP:0010278 ! increased glioma incidence created_by: csmith creation_date: 2010-11-03T01:21:12Z [Term] id: MP:0010728 name: fusion of atlas and occipital bones def: "union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure" [MGI:csmith] is_a: MP:0004607 ! abnormal cervical atlas morphology is_a: MP:0005269 ! abnormal occipital bone morphology created_by: csmith creation_date: 2010-11-08T12:22:15Z [Term] id: MP:0010729 name: absent arcus anterior def: "absence of the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis" [ISBN:0-683-40008-8, MGI:llw2] synonym: "absent anterior arch" EXACT [] synonym: "absent arcus anterior atlantis" EXACT [] is_a: MP:0009879 ! abnormal arcus anterior morphology created_by: csmith creation_date: 2010-11-08T12:30:26Z [Term] id: MP:0010730 name: absent odontoid process def: "absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates" [ISBN:0-683-40008-8] is_a: MP:0004659 ! abnormal odontoid process morphology created_by: csmith creation_date: 2010-11-08T02:20:56Z [Term] id: MP:0010731 name: absent ventral tubercle of atlas def: "absence of the conical ventral projection on the arch of the atlas" [MGI:csmith] is_a: MP:0004658 ! abnormal ventral tubercle of atlas morphology created_by: csmith creation_date: 2010-11-08T02:27:23Z [Term] id: MP:0010732 name: abnormal node of Ranvier morphology def: "any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon" [PMID:18929652] synonym: "abnormal node" EXACT [] is_a: MP:0005404 ! abnormal axon morphology created_by: csmith creation_date: 2010-11-09T01:51:31Z [Term] id: MP:0010733 name: abnormal axon initial segment morphology def: "any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs" [PMID:18929652] synonym: "abnormal AIS morphology" EXACT [] is_a: MP:0005404 ! abnormal axon morphology created_by: csmith creation_date: 2010-11-09T01:55:49Z [Term] id: MP:0010734 name: abnormal paranode morphology def: "any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode" [PMID:16224497] synonym: "abnormal axon paranodal region morphology" EXACT [] synonym: "abnormal axon paranode morphology" EXACT [] is_a: MP:0005404 ! abnormal axon morphology created_by: csmith creation_date: 2010-11-09T01:55:49Z [Term] id: MP:0010735 name: abnormal paranodal axoglial junction morphology def: "any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components" [PMID:19224642] synonym: "abnormal axoglial septate junction" EXACT [] synonym: "abnormal paranodal septate junction morphology" EXACT [] synonym: "abnormal PNJ" EXACT [] is_a: MP:0010734 ! abnormal paranode morphology created_by: csmith creation_date: 2010-11-09T01:55:49Z [Term] id: MP:0010736 name: abnormal extraembryonic ectoderm morphology def: "any structural anomaly of the layer of the ectoderm of the extraembryonic tissue" [MGI:smb] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2010-11-09T04:26:12Z [Term] id: MP:0010737 name: abnormal juxtaparanode morphology def: "any structural anomaly of the region of an axon near a node of Ranvier that is between the paranode axoglial junction and the internode regions; the juxtaparanode axolemma is enriched in potassium channels" [PMID:18803321] synonym: "abnormal juxtaparanodal region morphology" EXACT [] is_a: MP:0005404 ! abnormal axon morphology created_by: csmith creation_date: 2010-11-10T10:50:26Z [Term] id: MP:0010738 name: abnormal internode morphology def: "any structural anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath" [PMID:18929652] is_a: MP:0005404 ! abnormal axon morphology created_by: csmith creation_date: 2010-11-10T10:50:49Z [Term] id: MP:0010739 name: abnormal axolemma morphology def: "any structural anomaly of the plasma membrane of an axon" [ISBN:0-683-40008-8] synonym: "abnormal axon plasma membrane morphology" EXACT [] synonym: "abnormal axonal membrane morphology" EXACT [] synonym: "abnormal Mauthner sheath morphology" EXACT [] is_a: MP:0005404 ! abnormal axon morphology created_by: csmith creation_date: 2010-11-10T12:00:22Z [Term] id: MP:0010740 name: abnormal dendritic cell chemotaxis def: "anomaly in the movement of a dendritic cell in response to an external stimulus" [GO:0002407] is_a: MP:0002376 ! abnormal dendritic cell physiology is_a: MP:0011518 ! abnormal cell chemotaxis created_by: csmith creation_date: 2010-11-11T03:24:21Z [Term] id: MP:0010741 name: abnormal melanocyte proliferation def: "anomaly in the ability of the a melanocyte cell population to undergo expansion by cell division" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0001186 ! pigmentation phenotype created_by: csmith creation_date: 2010-11-11T03:57:15Z [Term] id: MP:0010742 name: increased Schwann cell number def: "greater than normal number of cells that sheath the axons of the peripheral nervous system" [MGI:csmith] is_a: MP:0001106 ! abnormal Schwann cell morphology created_by: csmith creation_date: 2010-11-11T04:01:57Z [Term] id: MP:0010743 name: delayed suture closure def: "late onset of the fusion of the bones of the skull" [MGI:smb] is_a: MP:0003420 ! delayed intramembranous bone ossification created_by: csmith creation_date: 2010-11-11T04:04:28Z [Term] id: MP:0010744 name: abnormal cervical flexure morphology def: "any structural anomaly in the ventrally concave flexure of the embryonic brain occurring at the junction of hindbrain and spinal cord" [ISBN:0-12-402035-6] is_a: MP:0000913 ! abnormal brain development created_by: csmith creation_date: 2010-11-11T04:07:32Z [Term] id: MP:0010745 name: abnormal pre-Botzinger complex morphology def: "any structural anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis" [PMID:18826652] is_a: MP:0000846 ! abnormal medulla oblongata morphology is_a: MP:0001033 ! abnormal parasympathetic system morphology created_by: csmith creation_date: 2010-11-11T04:23:51Z [Term] id: MP:0010746 name: abnormal pre-Botzinger complex physiology def: "any functional anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis" [PMID:18826652] is_a: MP:0003880 ! abnormal central pattern generator function is_a: MP:0006277 ! abnormal parasympathetic nervous system physiology created_by: csmith creation_date: 2010-11-11T04:36:35Z [Term] id: MP:0010747 name: abnormal enamel organ morphology def: "any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth" [ISBN:0-683-40008-8] synonym: "abnormal dental organ morphology" EXACT [] is_a: MP:0000116 ! abnormal tooth development created_by: csmith creation_date: 2010-11-12T03:15:22Z [Term] id: MP:0010748 name: abnormal visual evoked potential def: "anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal vision evoked potentials" EXACT [] synonym: "abnormal visual evoked response" EXACT [] synonym: "abnormal visually evoked potential" EXACT [] is_a: MP:0005551 ! abnormal eye electrophysiology created_by: csmith creation_date: 2010-11-12T03:55:48Z [Term] id: MP:0010749 name: absent visual evoked potential def: "absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absent vision evoked potentials" EXACT [] synonym: "absent visual evoked response" EXACT [] synonym: "absent visually evoked potential" EXACT [] is_a: MP:0010748 ! abnormal visual evoked potential created_by: csmith creation_date: 2010-11-12T03:57:03Z [Term] id: MP:0010750 name: increased susceptibility to parasitic infection induced morbidity/mortality def: "increased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites" [MGI:smb] synonym: "decreased resistance to parasitic infection induced morbidity/mortality" EXACT [] synonym: "increased susceptibility to parasite infection induced morbidity/mortality" EXACT [] is_a: MP:0005027 ! increased susceptibility to parasitic infection is_a: MP:0009787 ! increased susceptibility to infection induced morbidity/mortality created_by: csmith creation_date: 2010-11-12T04:06:04Z [Term] id: MP:0010751 name: decreased susceptibility to parasitic infection induced morbidity/mortality def: "decreased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites" [MGI:smb] synonym: "decreased susceptibility to parasite infection induced morbidity/mortality" EXACT [] synonym: "increased resistance to parasitic infection induced morbidity/mortality" EXACT [] is_a: MP:0005026 ! decreased susceptibility to parasitic infection is_a: MP:0009786 ! decreased susceptibility to infection induced morbidity/mortality created_by: csmith creation_date: 2010-11-12T04:07:02Z [Term] id: MP:0010752 name: impaired mucociliary clearance def: "reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands" [MESH:E01.370.386.520, MGI:csmith] is_a: MP:0001947 ! abnormal mucociliary clearance created_by: csmith creation_date: 2010-12-09T11:40:59Z [Term] id: MP:0010753 name: improved mucociliary clearance def: "enhanced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands" [MESH:E01.370.386.520, MGI:csmith] is_a: MP:0001947 ! abnormal mucociliary clearance created_by: csmith creation_date: 2010-12-09T11:41:22Z [Term] id: MP:0010754 name: abnormal heart left ventricle pressure def: "any anomaly in the pressure within the left cardiac ventricle" [MGI:csmith] synonym: "abnormal heart left ventricular pressure" EXACT [] is_a: MP:0008775 ! abnormal heart ventricle pressure created_by: csmith creation_date: 2010-12-09T01:21:58Z [Term] id: MP:0010755 name: abnormal heart right ventricle pressure def: "any anomaly in the pressure within the right cardiac ventricle" [MGI:csmith] synonym: "abnormal heart right ventricular pressure" EXACT [] is_a: MP:0008775 ! abnormal heart ventricle pressure created_by: csmith creation_date: 2010-12-09T01:23:06Z [Term] id: MP:0010756 name: decreased right ventricle peak pressure def: "decrease in the difference between right ventricular systolic and diastolic pressures" [MGI:csmith] synonym: "decreased right ventricular peak pressure" EXACT [] synonym: "reduced right ventricle peak pressure" EXACT [] is_a: MP:0010755 ! abnormal heart right ventricle pressure created_by: csmith creation_date: 2010-12-09T01:45:04Z [Term] id: MP:0010757 name: decreased right ventricle diastolic pressure def: "decrease in the pressure of the right ventricle between heart beats when the heart is relaxed" [MGI:csmith] synonym: "decreased right ventricular diastolic pressure" EXACT [] synonym: "decreased RVP" EXACT [] synonym: "reduced right ventricle diastolic pressure" EXACT [] is_a: MP:0010755 ! abnormal heart right ventricle pressure created_by: csmith creation_date: 2010-12-09T01:45:04Z [Term] id: MP:0010758 name: increased right ventricle systolic pressure def: "increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries" [MGI:csmith] synonym: "increased right ventricular systolic pressure" EXACT [] is_a: MP:0010755 ! abnormal heart right ventricle pressure created_by: csmith creation_date: 2010-12-09T01:45:04Z [Term] id: MP:0010759 name: decreased right ventricle systolic pressure def: "decrease in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries" [MGI:csmith] synonym: "decreased right ventricular systolic pressure" EXACT [] synonym: "reduced right ventricle systolic pressure" EXACT [] is_a: MP:0010755 ! abnormal heart right ventricle pressure created_by: csmith creation_date: 2010-12-09T01:45:04Z [Term] id: MP:0010760 name: abnormal macrophage chemotaxis alt_id: MP:0005495 def: "anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions" [GO:0048246] synonym: "abnormal macrophage migration" RELATED [] synonym: "abnormal macrophage recruitment" EXACT [] is_a: MP:0002451 ! abnormal macrophage physiology is_a: MP:0003156 ! abnormal leukocyte migration is_a: MP:0011518 ! abnormal cell chemotaxis created_by: csmith creation_date: 2010-12-09T02:44:10Z [Term] id: MP:0010761 name: abnormal microglial cell chemotaxis def: "anomaly in the movement of a microglial cell guided by a specific chemical concentration gradient" [MGI:csmith] synonym: "abnormal microglial cell migration" EXACT [] synonym: "abnormal microglial cell recruitment" NARROW [] is_a: MP:0003691 ! abnormal microglial cell physiology is_a: MP:0010760 ! abnormal macrophage chemotaxis created_by: csmith creation_date: 2010-12-09T02:46:55Z [Term] id: MP:0010762 name: abnormal microglial cell activation def: "any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form" [GO:0001774, MGI:csmith] is_a: MP:0003691 ! abnormal microglial cell physiology created_by: csmith creation_date: 2010-12-09T03:38:16Z [Term] id: MP:0010763 name: abnormal hematopoietic stem cell physiology def: "any functional anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith] synonym: "abnormal hematopoietic progenitor cell physiology" EXACT [] synonym: "abnormal hemopoietic progenitor cell physiology" EXACT [] synonym: "abnormal HSC physiology" EXACT [] is_a: MP:0001545 ! abnormal hematopoietic system physiology created_by: csmith creation_date: 2010-12-09T03:49:30Z [Term] id: MP:0010764 name: abnormal granulocyte chemotaxis def: "anomaly in the movement of a granulocyte guided by a specific chemical concentration gradient" [MGI:csmith] is_a: MP:0002462 ! abnormal granulocyte physiology is_a: MP:0011518 ! abnormal cell chemotaxis created_by: csmith creation_date: 2010-12-10T09:48:29Z [Term] id: MP:0010765 name: impaired granulocyte chemotaxis alt_id: MP:0005073 def: "reduced ability in the movement of a granulocyte guided by a specific chemical concentration gradient" [MGI:csmith] synonym: "defective granulocyte chemotaxis" EXACT [] synonym: "impaired granulocyte migration" BROAD [] is_a: MP:0010764 ! abnormal granulocyte chemotaxis created_by: csmith creation_date: 2010-12-10T09:59:45Z [Term] id: MP:0010766 name: abnormal NK cell physiology alt_id: MP:0005069 def: "any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [GOC:add, ISBN:0781735149, MGI:csmith, PMID:15771571] synonym: "abnormal natural killer cell physiology" EXACT [] synonym: "dysfunctional NK cells" EXACT [] synonym: "natural killer cell dysfunction" EXACT [] synonym: "NK cell dysfunction" EXACT [] xref: CL:0000623 xref: FMA:63147 xref: FMA:83601 is_a: MP:0002419 ! abnormal innate immunity is_a: MP:0003945 ! abnormal lymphocyte physiology created_by: csmith creation_date: 2010-12-10T11:34:06Z [Term] id: MP:0010767 name: abnormal female meiosis I arrest def: "any anomaly in the process in which oocytes stop at the diplotene stage of meiosis I and lie dormant, often for long periods of time" [MGI:csmith] synonym: "abnormal dictyotene stage" EXACT [] is_a: MP:0005168 ! abnormal female meiosis created_by: csmith creation_date: 2010-12-10T02:07:10Z [Term] id: MP:0010768 name: mortality/aging alt_id: MP:0005372 alt_id: MP:0005373 alt_id: MP:0005374 def: "characteristics involving the ability of an organism to live and age normally throughout development and life span" [MGI:csmith] synonym: "lethality-embryonic/perinatal" NARROW [] synonym: "lethality-postnatal" NARROW [] synonym: "lethality-prenatal/perinatal" NARROW [] synonym: "life span-post-weaning/aging" NARROW [] synonym: "lifespan" RELATED [] synonym: "survival" RELATED [] is_a: MP:0000001 ! mammalian phenotype created_by: csmith creation_date: 2011-01-07T09:57:14Z [Term] id: MP:0010769 name: abnormal survival def: "deviation from the expected viability or life span of an organism" [MGI:csmith] synonym: "abnormal life span" NARROW [] synonym: "lethality" EXACT [] is_a: MP:0010768 ! mortality/aging created_by: csmith creation_date: 2011-01-07T10:07:26Z [Term] id: MP:0010770 name: preweaning lethality def: "death anytime between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:Sanger_Karp] subset: Sanger_Terms is_a: MP:0010769 ! abnormal survival created_by: csmith creation_date: 2011-01-07T11:39:57Z [Term] id: MP:0010771 name: integument phenotype alt_id: MP:0005392 alt_id: MP:0005393 def: "the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands" [MGI:csmith] subset: Sanger_Terms synonym: "skin/coat/nails phenotype" NARROW [] synonym: "touch/vibrissae phenotype" NARROW [] is_a: MP:0000001 ! mammalian phenotype created_by: csmith creation_date: 2011-01-11T12:31:48Z [Term] id: MP:0010772 name: abnormal pollex morphology def: "any structural anomaly of the first or primary digit on the radial side of the hand" [ISBN:0-683-40008-8] synonym: "abnormal digitus primus morphology" BROAD [] synonym: "abnormal thumb morphology" EXACT [] is_a: MP:0002110 ! abnormal digit morphology created_by: csmith creation_date: 2011-01-25T10:43:26Z [Term] id: MP:0010773 name: supernumerary molars def: "increased number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [MGI:llw2] synonym: "increased molar number" EXACT [] is_a: MP:0002689 ! abnormal molar morphology is_a: MP:0004033 ! supernumerary teeth created_by: csmith creation_date: 2011-01-26T03:55:05Z [Term] id: MP:0010774 name: abnormal lymph node follicular mantle morphology def: "any structural anomaly of the part of the secondary follicle in which naive B cells reside along with some helper T cells, macrophages and follicular dendritic cells; these are displaced by the expanding germinal centre and form a 'mantle' around it" [PMID:11905817] synonym: "abnormal lymph node follicular corona morphology" EXACT [] xref: MA:0002990 is_a: MP:0002346 ! abnormal lymph node secondary follicle morphology created_by: csmith creation_date: 2011-01-27T11:51:22Z [Term] id: MP:0010775 name: abnormal scaphoid morphology def: "any structural anomaly of the bone of the hand located at the radial side of the carpus and which articulates with the radius, trapezium, trapezoideum, capitate, and lunate bones" [MGI:llw2] subset: Sanger_Terms synonym: "abnormal navicular of hand morphology" EXACT [] synonym: "abnormal radial carpal bone morphology" EXACT [] xref: MA:0002555 is_a: MP:0000554 ! abnormal carpal bone morphology created_by: csmith creation_date: 2011-01-27T01:35:36Z [Term] id: MP:0010776 name: abnormal placenta metrial gland morphology def: "any structural anomaly in the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates" [MGI:smb] synonym: "abnormal granulated metrial gland" EXACT [] synonym: "abnormal placental metrial gland" EXACT [] xref: MA:0000386 is_a: MP:0004256 ! abnormal maternal decidual layer morphology created_by: csmith creation_date: 2011-01-27T02:26:18Z [Term] id: MP:0010777 name: absent placenta metrial gland def: "absence of the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates" [MGI:smb] synonym: "absent placental metrial gland" EXACT [] is_a: MP:0010776 ! abnormal placenta metrial gland morphology created_by: csmith creation_date: 2011-01-27T02:45:02Z [Term] id: MP:0010778 name: abnormal stomach fundus morphology def: "any structural anomaly of the region of the stomach that lies above the cardiac notch that functions to store undigested food and to collect stomach gases produced by chemical digestion" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal gastric fundus morphology" EXACT [] synonym: "abnormal stomach greater cul-de-sac morphology" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-08T10:58:04Z [Term] id: MP:0010779 name: abnormal stomach muscularis externa morphology def: "any structural anomaly of the smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines" [MGI:csmith] synonym: "abnormal gastric muscularis morphology" EXACT [] synonym: "abnormal gastric smooth muscle morphology" EXACT [] synonym: "abnormal muscularis externa morphology" EXACT [] synonym: "abnormal stomach smooth muscle morphology" BROAD [] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0010783 ! abnormal stomach wall morphology created_by: csmith creation_date: 2011-02-08T11:01:17Z [Term] id: MP:0010780 name: abnormal stomach smooth muscle circular layer morphology def: "any structural anomaly of the middle layer of the muscularis; it is continuous with the circular layer of the esophagus, but is absent in the fundus and lies concentric to the longitudinal axis of the stomach; the circular layer is normally tonically constricted forming a functional pyloric sphincter, which controls the movement of chyme into the duodenum" [MGI:csmith] is_a: MP:0010779 ! abnormal stomach muscularis externa morphology created_by: csmith creation_date: 2011-02-08T11:01:35Z [Term] id: MP:0010781 name: pyloric sphincter hypertrophy def: "increase in the bulk size of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach, due to cell enlargement or accumulation of fluids" [ISBN:0-683-40008-8] is_a: MP:0009861 ! abnormal pyloric sphincter morphology created_by: csmith creation_date: 2011-02-08T11:03:42Z [Term] id: MP:0010782 name: stomach smooth muscle circular layer hypertrophy def: "increase in the bulk size of the middle layer of the muscularis due to cell enlargement or accumulation of fluids" [MGI:csmith] is_a: MP:0010780 ! abnormal stomach smooth muscle circular layer morphology created_by: csmith creation_date: 2011-02-08T11:04:16Z [Term] id: MP:0010783 name: abnormal stomach wall morphology def: "any structural anomaly of the layered structure that makes up the stomach, consisting of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between" [MGI:csmith] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-08T11:04:49Z [Term] id: MP:0010784 name: abnormal forestomach morphology def: "any structural anomaly of the dilated area of tissue where the stomach and esophagus meet" [MGI:csmith] synonym: "abnormal stomach cardiac antrum morphology" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-08T11:05:59Z [Term] id: MP:0010785 name: abnormal stomach pyloric region morphology def: "any structural anomaly of the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum" [MGI:csmith] synonym: "abnormal stomach pylorus morphology" RELATED [] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-08T11:06:53Z [Term] id: MP:0010786 name: stomach fundus hypertrophy def: "increase in the bulk size of the stomach fundus due to cell enlargement or accumulation of fluids" [MGI:csmith] synonym: "gastric fundus hypertrophy" EXACT [] is_a: MP:0010778 ! abnormal stomach fundus morphology created_by: csmith creation_date: 2011-02-08T11:09:14Z [Term] id: MP:0010787 name: gastric cysts def: "abnormal membranous sacs in the wall of the stomach" [MGI:csmith] synonym: "stomach cysts" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-08T11:10:04Z [Term] id: MP:0010788 name: stomach hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the stomach" [MGI:csmith] synonym: "gastric hypoplasia" EXACT [] is_a: MP:0002691 ! small stomach created_by: csmith creation_date: 2011-02-08T11:11:03Z [Term] id: MP:0010789 name: abnormal stomach mesentery morphology def: "any structural anomaly of the double layer of peritoneum that encloses the stomach and connects it to the abdominal wall" [MGI:csmith] synonym: "abnormal mesogastrium morphology" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-08T11:14:24Z [Term] id: MP:0010790 name: abnormal stomach pyloric antrum morphology def: "any structural anomaly of the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells" [ISBN:0-683-40008-8] synonym: "abnormal stomach lesser cul-de-sac morphology" EXACT [] is_a: MP:0010785 ! abnormal stomach pyloric region morphology created_by: csmith creation_date: 2011-02-08T11:35:02Z [Term] id: MP:0010791 name: abnormal pyloric canal morphology def: "any structural anomaly of the short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter" [MGI:csmith] is_a: MP:0010785 ! abnormal stomach pyloric region morphology created_by: csmith creation_date: 2011-02-08T11:54:35Z [Term] id: MP:0010792 name: abnormal stomach mucosa morphology alt_id: MP:0005209 def: "any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae" [MGI:csmith] synonym: "abnormal gastric mucosa" EXACT [] synonym: "abnormal gastric mucosa morphology" EXACT [] synonym: "abnormal mucosa of stomach" EXACT [] synonym: "abnormal stomach mucus membrane morphology" EXACT [] xref: MA:0002683 is_a: MP:0010783 ! abnormal stomach wall morphology created_by: csmith creation_date: 2011-02-09T09:18:57Z [Term] id: MP:0010793 name: abnormal stomach serosa morphology def: "any structural anomaly of the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum" [MGI:csmith] synonym: "abnormal gastric serosa morphology" EXACT [] is_a: MP:0010783 ! abnormal stomach wall morphology created_by: csmith creation_date: 2011-02-09T09:22:43Z [Term] id: MP:0010794 name: abnormal stomach submucosa morphology def: "any structural anomaly of the fibrous connective tissue layer beneath the stomach mucosa" [MGI:csmith] is_a: MP:0010783 ! abnormal stomach wall morphology created_by: csmith creation_date: 2011-02-09T09:22:59Z [Term] id: MP:0010795 name: abnormal cardiac gastric gland morphology def: "any structural anomaly of the gastric glands in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it" [MGI:csmith] synonym: "abnormal cardiac glands of stomach morphology" EXACT [] is_a: MP:0003892 ! abnormal gastric gland morphology is_a: MP:0010798 ! abnormal stomach cardiac region morphology created_by: csmith creation_date: 2011-02-09T10:25:08Z [Term] id: MP:0010796 name: abnormal intermediate gastric gland morphology def: "any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that secrete most of the digestive substances secreted by the stomach" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal fundic gland morphology" NARROW [] synonym: "abnormal fundus gastric gland morphology" NARROW [] synonym: "abnormal stomach body gastric gland morphology" NARROW [] is_a: MP:0003892 ! abnormal gastric gland morphology created_by: csmith creation_date: 2011-02-09T10:25:38Z [Term] id: MP:0010797 name: abnormal pyloric gastric gland morphology def: "any structural anomaly of the gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin" [ISBN:0-683-40008-8] is_a: MP:0003892 ! abnormal gastric gland morphology is_a: MP:0010785 ! abnormal stomach pyloric region morphology created_by: csmith creation_date: 2011-02-09T10:26:01Z [Term] id: MP:0010798 name: abnormal stomach cardiac region morphology def: "any structural anomaly of the stomach region where the esophagus empties into the stomach" [MGI:csmith] is_a: MP:0000470 ! abnormal stomach morphology created_by: csmith creation_date: 2011-02-09T10:26:48Z [Term] id: MP:0010799 name: stomach mucosa hyperplasia def: "overdevelopment or increased size, usually due to an increase in the number of cells, of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae" [MGI:csmith] is_a: MP:0010792 ! abnormal stomach mucosa morphology created_by: csmith creation_date: 2011-02-09T12:04:40Z [Term] id: MP:0010800 name: abnormal submucous nerve plexus morphology def: "any structural anomaly of the gangliated plexus of unmyelinated nerve fibers that ramify the stomach and intestinal submucosa" [ISBN:0-683-40008-8] synonym: "abnormal Henle's plexus morphology" EXACT [] synonym: "abnormal Meissner's plexus morphology" EXACT [] synonym: "abnormal Remak plexus morphology" EXACT [] synonym: "abnormal submucosal plexus morphology" EXACT [] is_a: MP:0001044 ! abnormal enteric nervous system morphology created_by: csmith creation_date: 2011-02-09T12:20:10Z [Term] id: MP:0010801 name: abnormal myenteric nerve plexus morphology def: "any structural anomaly of the plexus of unmyelinated nerve fibers and postganglionic autonomic cell bodies lying in the muscular coat of the esophagus, stomach and intestines that communicate with the submucosal, subserosal and enteric plexuses" [ISBN:0-683-40008-8] synonym: "abnormal Auerbach plexus morphology" EXACT [] is_a: MP:0001044 ! abnormal enteric nervous system morphology created_by: csmith creation_date: 2011-02-09T12:25:21Z [Term] id: MP:0010802 name: abnormal intestinal enteroendocrine cell morphology def: "any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract" [MGI:csmith] synonym: "abnormal intestinal L cell morphology" NARROW [] synonym: "abnormal intestinal S cell morphology" NARROW [] synonym: "abnormal intestinal secretin cell morphology" NARROW [] is_a: MP:0000511 ! abnormal intestinal mucosa morphology is_a: MP:0004141 ! abnormal enteroendocrine cell morphology created_by: csmith creation_date: 2011-02-09T12:42:15Z [Term] id: MP:0010803 name: abnormal stomach enteroendocrine cell morphology def: "any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach" [MGI:csmith] synonym: "abnormal gastric enteroendocrine cell morphology" EXACT [] is_a: MP:0003892 ! abnormal gastric gland morphology is_a: MP:0004141 ! abnormal enteroendocrine cell morphology created_by: csmith creation_date: 2011-02-09T12:49:48Z [Term] id: MP:0010804 name: abnormal stomach smooth muscle inner oblique layer morphology def: "any structural anomaly of the innermost layer of the muscularis; it is not present in all sections of the stomach but is clearly seen in the fundus and near the lesser curvature of the corpus; the oblique fibers disappear distally (towards the pyloric antrum); the oblique layer is responsible for creating the motion that churns and physically breaks down the food" [MGI:csmith] is_a: MP:0010779 ! abnormal stomach muscularis externa morphology created_by: csmith creation_date: 2011-02-09T01:24:37Z [Term] id: MP:0010805 name: abnormal stomach smooth muscle outer longitudinal layer morphology def: "any structural anomaly of the most superficial layer of the muscularis; it has two sections, a longitudinal layer that is common with the esophagus and ends in the corpus, and a longitudinal layer that originates in the corpus and spreads into the duodenum" [MGI:csmith] is_a: MP:0010779 ! abnormal stomach muscularis externa morphology created_by: csmith creation_date: 2011-02-09T01:25:13Z [Term] id: MP:0010806 name: abnormal stomach muscularis mucosa morphology def: "any structural anomaly of the thin layer of smooth muscle in the mucosal layer of the stomach that functions to agitate the surface area stomach mucosa by moving the villi back and forth" [MGI:csmith] synonym: "abnormal muscular layer of stomach mucosa" EXACT [] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0010792 ! abnormal stomach mucosa morphology created_by: csmith creation_date: 2011-02-09T01:39:38Z [Term] id: MP:0010807 name: abnormal stomach position or orientation def: "the stomach is displaced from the normal left-sided position and/or orientation" [MGI:csmith] is_a: MP:0000470 ! abnormal stomach morphology is_a: MP:0003283 ! abnormal digestive organ placement created_by: csmith creation_date: 2011-02-10T09:50:04Z [Term] id: MP:0010808 name: right-sided stomach def: "stomach is present on the right side of the body instead of the left" [MGI:csmith] is_a: MP:0004133 ! heterotaxia is_a: MP:0010807 ! abnormal stomach position or orientation created_by: csmith creation_date: 2011-02-10T09:50:21Z [Term] id: MP:0010809 name: abnormal Clara cell morphology def: "any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function" [ISBN:0-683-40008-8] synonym: "abnormal bronchiolar exocrine cell morphology" EXACT [] is_a: MP:0010897 ! abnormal bronchiole epithelium morphology created_by: csmith creation_date: 2011-02-11T02:04:24Z [Term] id: MP:0010810 name: increased type II pneumocyte number def: "greater number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna, PMID:8540632] synonym: "increased AT2 number" EXACT [] synonym: "increased ATII number" EXACT [] synonym: "increased Cuboidal type II cell number" EXACT [] synonym: "increased granular pneumocyte number" EXACT [] synonym: "increased Great alveolar cell number" EXACT [] synonym: "increased Lung type 2 cell number" EXACT [] synonym: "increased Lung type II cell number" RELATED [] synonym: "increased TII number" EXACT [] synonym: "increased type 2 alveolar epithelial cell number" EXACT [] synonym: "increased type 2 alveolocyte number" EXACT [] synonym: "increased type 2 pneumocyte number" EXACT [] synonym: "increased type II alveolar epithelial cell number" EXACT [] synonym: "increased type II alveolocyte number" EXACT [] synonym: "increased type II cell number" EXACT [] synonym: "increased type II pneumocytes" EXACT [] synonym: "increased type II pneumonocyte number" EXACT [] xref: CL:0002063 xref: FMA:62501 is_a: MP:0002275 ! abnormal type II pneumocyte morphology created_by: csmith creation_date: 2011-02-11T02:42:20Z [Term] id: MP:0010811 name: decreased type II pneumocyte number def: "reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna, PMID:8540632] synonym: "decreased AT2 number" EXACT [] synonym: "decreased ATII number" EXACT [] synonym: "decreased Cuboidal type II cell number" EXACT [] synonym: "decreased granular pneumocyte number" EXACT [] synonym: "decreased Great alveolar cell number" EXACT [] synonym: "decreased Lung type 2 cell number" EXACT [] synonym: "decreased Lung type II cell number" RELATED [] synonym: "decreased TII number" EXACT [] synonym: "decreased type 2 alveolar epithelial cell number" EXACT [] synonym: "decreased type 2 alveolocyte number" EXACT [] synonym: "decreased type 2 pneumocyte number" EXACT [] synonym: "decreased type II alveolar epithelial cell number" EXACT [] synonym: "decreased type II alveolocyte number" EXACT [] synonym: "decreased type II cell number" EXACT [] synonym: "decreased type II pneumocytes" EXACT [] synonym: "decreased type II pneumonocyte number" EXACT [] synonym: "reduced AT2 number" EXACT [] synonym: "reduced ATII number" EXACT [] synonym: "reduced Cuboidal type II cell number" EXACT [] synonym: "reduced granular pneumocyte number" EXACT [] synonym: "reduced Great alveolar cell number" EXACT [] synonym: "reduced Lung type 2 cell number" EXACT [] synonym: "reduced Lung type II cell number" RELATED [] synonym: "reduced TII number" EXACT [] synonym: "reduced type 2 alveolar epithelial cell number" EXACT [] synonym: "reduced type 2 alveolocyte number" EXACT [] synonym: "reduced type 2 pneumocyte number" EXACT [] synonym: "reduced type II alveolar epithelial cell number" EXACT [] synonym: "reduced type II alveolocyte number" EXACT [] synonym: "reduced type II cell number" EXACT [] synonym: "reduced type II pneumocytes" EXACT [] synonym: "reduced type II pneumonocyte number" EXACT [] xref: CL:0002063 xref: FMA:62501 is_a: MP:0002275 ! abnormal type II pneumocyte morphology created_by: csmith creation_date: 2011-02-11T02:42:20Z [Term] id: MP:0010812 name: absent type II pneumocytes def: "absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna, PMID:8540632] synonym: "absent AT2" EXACT [] synonym: "absent ATII" EXACT [] synonym: "absent Cuboidal type II cell" EXACT [] synonym: "absent granular pneumocytes" EXACT [] synonym: "absent Great alveolar cells" EXACT [] synonym: "absent Lung type 2 cells" EXACT [] synonym: "absent Lung type II cells" RELATED [] synonym: "absent TII" EXACT [] synonym: "absent type 2 alveolar epithelial cells" EXACT [] synonym: "absent type 2 alveolocytes" EXACT [] synonym: "absent type 2 pneumocyte" EXACT [] synonym: "absent type II alveolar epithelial cells" EXACT [] synonym: "absent type II alveolocytes" EXACT [] synonym: "absent type II cells" EXACT [] synonym: "absent type II pneumonocytes" EXACT [] xref: CL:0002063 xref: FMA:62501 is_a: MP:0010811 ! decreased type II pneumocyte number created_by: csmith creation_date: 2011-02-11T02:42:20Z [Term] id: MP:0010813 name: abnormal alveolar lamellar body morphology def: "any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna] is_a: MP:0002275 ! abnormal type II pneumocyte morphology created_by: csmith creation_date: 2011-02-11T02:42:20Z [Term] id: MP:0010814 name: absent alveolar lamellar bodies def: "absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna] is_a: MP:0010813 ! abnormal alveolar lamellar body morphology created_by: csmith creation_date: 2011-02-11T02:42:20Z [Term] id: MP:0010815 name: enlarged alveolar lamellar bodies def: "increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna] is_a: MP:0010813 ! abnormal alveolar lamellar body morphology created_by: csmith creation_date: 2011-02-11T02:42:20Z [Term] id: MP:0010816 name: decreased type I pneumocyte number def: "reduced number of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange" [PMID:20054144] synonym: "decreased AT1 number" EXACT [] synonym: "decreased ATI number" EXACT [] synonym: "decreased lung type 1 cell number" EXACT [] synonym: "decreased membranous pneumocyte number" EXACT [] synonym: "decreased Pulmonary alveolar type I cell number" EXACT [] synonym: "decreased small alveolar cell number" EXACT [] synonym: "decreased squamous alveolar cell number" EXACT [] synonym: "decreased squamous alveolar lining cell number" EXACT [] synonym: "decreased type 1 alveolar epithelial cell number" EXACT [] synonym: "decreased Type 1 pneumocyte number" EXACT [] synonym: "decreased type I alveolar epithelial cell number" EXACT [] synonym: "decreased type I cell number" EXACT [] synonym: "decreased type I pneumonocyte number" EXACT [] synonym: "reduced AT1 number" EXACT [] synonym: "reduced ATI number" EXACT [] synonym: "reduced lung type 1 cell number" EXACT [] synonym: "reduced membranous pneumocyte number" EXACT [] synonym: "reduced Pulmonary alveolar type I cell number" EXACT [] synonym: "reduced small alveolar cell number" EXACT [] synonym: "reduced squamous alveolar cell number" EXACT [] synonym: "reduced squamous alveolar lining cell number" EXACT [] synonym: "reduced type 1 alveolar epithelial cell number" EXACT [] synonym: "reduced Type 1 pneumocyte number" EXACT [] synonym: "reduced type I alveolar epithelial cell number" EXACT [] synonym: "reduced type I cell number" EXACT [] synonym: "reduced type I pneumocyte number" EXACT [] synonym: "reduced type I pneumonocyte number" EXACT [] xref: CL:0002062 xref: FMA:62500 is_a: MP:0002274 ! abnormal type I pneumocyte morphology created_by: csmith creation_date: 2011-02-11T02:43:57Z [Term] id: MP:0010817 name: absent type I pneumocytes def: "absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange" [PMID:20054144] synonym: "absent AT1" EXACT [] synonym: "absent ATI" EXACT [] synonym: "absent lung type 1 cells" EXACT [] synonym: "absent membranous pneumocytes" EXACT [] synonym: "absent Pulmonary alveolar type I cell" EXACT [] synonym: "absent small alveolar cells" EXACT [] synonym: "absent squamous alveolar cell" EXACT [] synonym: "absent squamous alveolar lining cell" EXACT [] synonym: "absent type 1 alveolar epithelial cells" EXACT [] synonym: "absent Type 1 pneumocyte" EXACT [] synonym: "absent type I alveolar epithelial cells" EXACT [] synonym: "absent type I cells" EXACT [] synonym: "absent type I pneumonocytes" EXACT [] xref: CL:0002062 xref: FMA:62500 is_a: MP:0010816 ! decreased type I pneumocyte number created_by: csmith creation_date: 2011-02-11T02:44:08Z [Term] id: MP:0010818 name: adhesive atelectasis def: "alveolar collapse in the presence of patent airways, especially when surfactant is inactivated or absent, and is seen in newborn respiratory distress syndrome, acute radiation pneumonitis, or viral pneumonia" [ISBN:0-683-40008-8] synonym: "microatelectasis" EXACT [] synonym: "nonobstructive atelectasis" EXACT [] is_a: MP:0001177 ! atelectasis created_by: csmith creation_date: 2011-02-14T02:57:41Z [Term] id: MP:0010819 name: primary atelectasis def: "nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration" [ISBN:0-683-40008-8] synonym: "neonatal atelectasis" NARROW [] is_a: MP:0001177 ! atelectasis created_by: csmith creation_date: 2011-02-14T03:03:14Z [Term] id: MP:0010820 name: abnormal pleura morphology def: "any structural anomaly of the serous membrane surrounding the lungs and lining the walls of the pleural cavity" [ISBN:0-683-40008-8] is_a: MP:0002132 ! abnormal respiratory system morphology created_by: csmith creation_date: 2011-02-14T03:07:39Z [Term] id: MP:0010821 name: abnormal visceral pleura morphology def: "any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes" [ISBN:0-683-40008-8] synonym: "abnormal inner pleura morphology" EXACT [] synonym: "abnormal pulmonary pleura morphology" RELATED [] is_a: MP:0010820 ! abnormal pleura morphology created_by: csmith creation_date: 2011-02-14T03:09:56Z [Term] id: MP:0010822 name: pneumothorax def: "free air or gas is present in the pleural cavity" [ISBN:0-683-40008-8] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2011-02-14T03:12:11Z [Term] id: MP:0010823 name: abnormal parietal pleura morphology def: "any structural anomaly of the part of the pleura that lines and is attached to the wall of the thoracic cavity" [ISBN:0-683-40008-8] synonym: "abnormal outer pleura morphology" EXACT [] is_a: MP:0010820 ! abnormal pleura morphology created_by: csmith creation_date: 2011-02-14T03:13:50Z [Term] id: MP:0010824 name: absent right lung accessory lobe def: "absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax" [ISBN:0486631850, PMID:2050021] synonym: "absent right lung cardiac lobe" EXACT [] synonym: "absent right lung infracardiac lobe" EXACT [] synonym: "absent right lung median lobe" EXACT [] synonym: "absent right lung postcaval lobe" EXACT [] is_a: MP:0009571 ! abnormal right lung accessory lobe morphology created_by: csmith creation_date: 2011-02-14T03:17:54Z [Term] id: MP:0010825 name: abnormal lung saccule morphology def: "any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth" [GO:0060430, ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal alveolar saccule morphology" EXACT [] is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-02-14T03:48:35Z [Term] id: MP:0010826 name: absent lung saccules def: "absence of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth" [ISBN:0-683-40008-8, MGI:csmith] synonym: "absent alveolar saccule" EXACT [] is_a: MP:0010825 ! abnormal lung saccule morphology created_by: csmith creation_date: 2011-02-14T03:54:20Z [Term] id: MP:0010827 name: small lung saccule def: "reduced size of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth" [ISBN:0-683-40008-8, MGI:csmith] synonym: "reduced lung saccule size" EXACT [] synonym: "small alveolar saccule" EXACT [] is_a: MP:0010825 ! abnormal lung saccule morphology created_by: csmith creation_date: 2011-02-14T03:54:34Z [Term] id: MP:0010828 name: abnormal bronchioalveolar stem cell morphology def: "any structural anomaly of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury" [CL:0002638] synonym: "abnormal BASCs" RELATED [] is_a: MP:0006382 ! abnormal lung epithelium morphology created_by: csmith creation_date: 2011-02-14T04:12:04Z [Term] id: MP:0010829 name: increased bronchioalveolar stem cell number def: "greater numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury" [CL:0002638] synonym: "increased BASC number" RELATED [] is_a: MP:0010828 ! abnormal bronchioalveolar stem cell morphology created_by: csmith creation_date: 2011-02-14T04:12:33Z [Term] id: MP:0010830 name: decreased bronchioalveolar stem cell number def: "reduced numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury" [CL:0002638] synonym: "decreased BASC number" EXACT [] synonym: "reduced BASC number" RELATED [] synonym: "reduced bronchioalveolar stem cell number" EXACT [] is_a: MP:0010828 ! abnormal bronchioalveolar stem cell morphology created_by: csmith creation_date: 2011-02-14T04:12:48Z [Term] id: MP:0010831 name: partial lethality def: "the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms" [MGI:csmith] subset: Sanger_Terms synonym: "partial lethal" EXACT [] synonym: "reduced viability" EXACT [] is_a: MP:0010769 ! abnormal survival created_by: csmith creation_date: 2011-02-15T02:25:11Z [Term] id: MP:0010832 name: lethality during fetal growth through weaning def: "death anytime between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)" [MGI:csmith] is_a: MP:0010770 ! preweaning lethality created_by: csmith creation_date: 2011-02-15T02:48:40Z [Term] id: MP:0010833 name: abnormal memory T cell morphology alt_id: MP:0006385 def: "any structural anomaly of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive" [CL:0000813, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, ISBN:0781735149] synonym: "abnormal memory T lymphocyte morphology" EXACT [] synonym: "abnormal memory T-cell morphology" EXACT [] synonym: "abnormal memory T-lymphocyte morphology" EXACT [] xref: CL:0000813 is_a: MP:0008037 ! abnormal T cell morphology created_by: csmith creation_date: 2011-02-16T10:02:22Z [Term] id: MP:0010834 name: abnormal CD4-positive, alpha-beta memory T cell morphology def: "any structural anomaly of a CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high" [CL:0000897, GO_REF:0000031, GOC:add, GOC:tfm, http://www.immgen.org/index_content.html, ISBN:0781735149] synonym: "abnormal CD4-positive, alpha-beta memory T lymphocyte morphology" EXACT [] synonym: "abnormal CD4-positive, alpha-beta memory T-cell morphology" EXACT [] synonym: "abnormal CD4-positive, alpha-beta memory T-lymphocyte morphology" EXACT [] synonym: "abnormal T4.Mem.Sp morphology" RELATED [] xref: CL:0000897 is_a: MP:0002432 ! abnormal CD4-positive T cell morphology is_a: MP:0010833 ! abnormal memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:04:25Z [Term] id: MP:0010835 name: increased CD4-positive, alpha-beta memory T cell number def: "increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high" [CL:0000897, GO_REF:0000031, GOC:add, GOC:tfm, http://www.immgen.org/index_content.html, ISBN:0781735149] subset: Sanger_Terms synonym: "increased CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "increased CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "increased CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "increased T4.Mem.Sp number" RELATED [] xref: CL:0000897 is_a: MP:0008049 ! increased memory T cell number is_a: MP:0010834 ! abnormal CD4-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:05:16Z [Term] id: MP:0010836 name: decreased CD4-positive, alpha-beta memory T cell number def: "reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high" [CL:0000897, GO_REF:0000031, GOC:add, GOC:tfm, http://www.immgen.org/index_content.html, ISBN:0781735149] subset: Sanger_Terms synonym: "decreased CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "decreased CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "decreased CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "decreased T4.Mem.Sp number" RELATED [] synonym: "reduced CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "reduced CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "reduced CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "reduced T4.Mem.Sp number" RELATED [] xref: CL:0000897 is_a: MP:0008050 ! decreased memory T cell number is_a: MP:0010834 ! abnormal CD4-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:05:28Z [Term] id: MP:0010837 name: abnormal CD8-positive, alpha-beta memory T cell morphology def: "any structural anomaly of a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high" [CL:0000909, GO_REF:0000031, GOC:tfm, PMID:20146720] synonym: "abnormal CD8-positive, alpha-beta memory T lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta memory T-cell morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta memory T-lymphocyte morphology" EXACT [] synonym: "abnormal T.8Mem.Sp morphology" EXACT [] xref: CL:0000909 is_a: MP:0005010 ! abnormal CD8-positive T cell morphology is_a: MP:0010833 ! abnormal memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:06:22Z [Term] id: MP:0010838 name: increased CD8-positive, alpha-beta memory T cell number def: "increased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high" [CL:0000909, GO_REF:0000031, GOC:tfm, PMID:20146720] subset: Sanger_Terms synonym: "increased CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "increased CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "increased CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "increased T.8Mem.Sp number" EXACT [] xref: CL:0000909 is_a: MP:0008049 ! increased memory T cell number is_a: MP:0010837 ! abnormal CD8-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:06:51Z [Term] id: MP:0010839 name: decreased CD8-positive, alpha-beta memory T cell number def: "decreased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high" [CL:0000909, GO_REF:0000031, GOC:tfm, PMID:20146720] subset: Sanger_Terms synonym: "decreased CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "decreased CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "decreased CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "decreased T.8Mem.Sp number" EXACT [] synonym: "reduced CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "reduced CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "reduced CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "reduced T.8Mem.Sp number" EXACT [] xref: CL:0000909 is_a: MP:0008050 ! decreased memory T cell number is_a: MP:0010837 ! abnormal CD8-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:07:07Z [Term] id: MP:0010840 name: abnormal central memory CD4-positive, alpha-beta T cell morphology def: "any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000904, GO_REF:0000031, GOC:add, GOC:pam] synonym: "abnormal central CD4-positive, alpha-beta memory T cell morphology" EXACT [] synonym: "abnormal central CD4-positive, alpha-beta memory T lymphocyte morphology" EXACT [] synonym: "abnormal central CD4-positive, alpha-beta memory T-cell morphology" EXACT [] synonym: "abnormal central CD4-positive, alpha-beta memory T-lymphocyte morphology" EXACT [] synonym: "abnormal central memory CD4-positive, alpha-beta T lymphocyte morphology" EXACT [] synonym: "abnormal central memory CD4-positive, alpha-beta T-cell morphology" EXACT [] synonym: "abnormal central memory CD4-positive, alpha-beta T-lymphocyte morphology" EXACT [] xref: CL:0000904 is_a: MP:0010834 ! abnormal CD4-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:31:03Z [Term] id: MP:0010841 name: increased central memory CD4-positive, alpha-beta T cell number def: "increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000904, GO_REF:0000031, GOC:add, GOC:pam] synonym: "increased central CD4-positive, alpha-beta memory T cell number" EXACT [] synonym: "increased central CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "increased central CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "increased central CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "increased central memory CD4-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "increased central memory CD4-positive, alpha-beta T-cell number" EXACT [] synonym: "increased central memory CD4-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000904 is_a: MP:0010835 ! increased CD4-positive, alpha-beta memory T cell number is_a: MP:0010840 ! abnormal central memory CD4-positive, alpha-beta T cell morphology created_by: csmith creation_date: 2011-02-16T10:31:23Z [Term] id: MP:0010842 name: decreased central memory CD4-positive, alpha-beta T cell number def: "reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000904, GO_REF:0000031, GOC:add, GOC:pam] synonym: "decreased central CD4-positive, alpha-beta memory T cell number" EXACT [] synonym: "decreased central CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "decreased central CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "decreased central CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "decreased central memory CD4-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "decreased central memory CD4-positive, alpha-beta T-cell number" EXACT [] synonym: "decreased central memory CD4-positive, alpha-beta T-lymphocyte number" EXACT [] synonym: "reduced central CD4-positive, alpha-beta memory T cell number" EXACT [] synonym: "reduced central CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "reduced central CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "reduced central CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "reduced central memory CD4-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "reduced central memory CD4-positive, alpha-beta T-cell number" EXACT [] synonym: "reduced central memory CD4-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000904 is_a: MP:0010836 ! decreased CD4-positive, alpha-beta memory T cell number is_a: MP:0010840 ! abnormal central memory CD4-positive, alpha-beta T cell morphology created_by: csmith creation_date: 2011-02-16T10:31:42Z [Term] id: MP:0010843 name: abnormal effector memory CD4-positive, alpha-beta T cell morphology def: "any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000905, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm] synonym: "abnormal effector CD4-positive, alpha-beta memory T cell morphology" EXACT [] synonym: "abnormal effector CD4-positive, alpha-beta memory T lymphocyte morphology" EXACT [] synonym: "abnormal effector CD4-positive, alpha-beta memory T-cell morphology" EXACT [] synonym: "abnormal effector CD4-positive, alpha-beta memory T-lymphocyte morphology" EXACT [] synonym: "abnormal effector memory CD4-positive, alpha-beta T lymphocyte morphology" EXACT [] synonym: "abnormal effector memory CD4-positive, alpha-beta T-cell morphology" EXACT [] synonym: "abnormal effector memory CD4-positive, alpha-beta T-lymphocyte morphology" EXACT [] xref: CL:0000905 is_a: MP:0010834 ! abnormal CD4-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:32:16Z [Term] id: MP:0010844 name: increased effector memory CD4-positive, alpha-beta T cell number def: "increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000905, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm] synonym: "increased effector CD4-positive, alpha-beta memory T cell number" EXACT [] synonym: "increased effector CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "increased effector CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "increased effector CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "increased effector memory CD4-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "increased effector memory CD4-positive, alpha-beta T-cell number" EXACT [] synonym: "increased effector memory CD4-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000905 is_a: MP:0010835 ! increased CD4-positive, alpha-beta memory T cell number is_a: MP:0010843 ! abnormal effector memory CD4-positive, alpha-beta T cell morphology created_by: csmith creation_date: 2011-02-16T10:32:36Z [Term] id: MP:0010845 name: decreased effector memory CD4-positive, alpha-beta T cell number def: "reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000905, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm] synonym: "decreased effector CD4-positive, alpha-beta memory T cell number" EXACT [] synonym: "decreased effector CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "decreased effector CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "decreased effector CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "decreased effector memory CD4-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "decreased effector memory CD4-positive, alpha-beta T-cell number" EXACT [] synonym: "decreased effector memory CD4-positive, alpha-beta T-lymphocyte number" EXACT [] synonym: "reduced effector CD4-positive, alpha-beta memory T cell number" EXACT [] synonym: "reduced effector CD4-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "reduced effector CD4-positive, alpha-beta memory T-cell number" EXACT [] synonym: "reduced effector CD4-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "reduced effector memory CD4-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "reduced effector memory CD4-positive, alpha-beta T-cell number" EXACT [] synonym: "reduced effector memory CD4-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000905 is_a: MP:0010836 ! decreased CD4-positive, alpha-beta memory T cell number is_a: MP:0010843 ! abnormal effector memory CD4-positive, alpha-beta T cell morphology created_by: csmith creation_date: 2011-02-16T10:32:48Z [Term] id: MP:0010846 name: abnormal central memory CD8 positive, alpha-beta T cell morphology def: "any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000907, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:20146720] synonym: "abnormal central CD8-positive, alpha-beta memory T cell morphology" EXACT [] synonym: "abnormal central CD8-positive, alpha-beta memory T lymphocyte morphology" EXACT [] synonym: "abnormal central CD8-positive, alpha-beta memory T-cell morphology" EXACT [] synonym: "abnormal central CD8-positive, alpha-beta memory T-lymphocyte morphology" EXACT [] synonym: "abnormal central memory CD8-positive, alpha-beta T lymphocyte morphology" EXACT [] synonym: "abnormal central memory CD8-positive, alpha-beta T-cell morphology" EXACT [] synonym: "abnormal central memory CD8-positive, alpha-beta T-lymphocyte morphology" EXACT [] xref: CL:0000907 is_a: MP:0010837 ! abnormal CD8-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:34:09Z [Term] id: MP:0010847 name: increased central memory CD8 positive, alpha-beta T cell number def: "increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000907, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:20146720] synonym: "increased central CD8-positive, alpha-beta memory T cell number" EXACT [] synonym: "increased central CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "increased central CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "increased central CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "increased central memory CD8-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "increased central memory CD8-positive, alpha-beta T-cell number" EXACT [] synonym: "increased central memory CD8-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000907 is_a: MP:0010838 ! increased CD8-positive, alpha-beta memory T cell number is_a: MP:0010846 ! abnormal central memory CD8 positive, alpha-beta T cell morphology created_by: csmith creation_date: 2011-02-16T10:34:31Z [Term] id: MP:0010848 name: decreased central memory CD8 positive, alpha-beta T cell number def: "reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000907, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm, PMID:20146720] synonym: "decreased central CD8-positive, alpha-beta memory T cell number" EXACT [] synonym: "decreased central CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "decreased central CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "decreased central CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "decreased central memory CD8-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "decreased central memory CD8-positive, alpha-beta T-cell number" EXACT [] synonym: "decreased central memory CD8-positive, alpha-beta T-lymphocyte number" EXACT [] synonym: "reduced central CD8-positive, alpha-beta memory T cell number" EXACT [] synonym: "reduced central CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "reduced central CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "reduced central CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "reduced central memory CD8-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "reduced central memory CD8-positive, alpha-beta T-cell number" EXACT [] synonym: "reduced central memory CD8-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000907 is_a: MP:0010839 ! decreased CD8-positive, alpha-beta memory T cell number is_a: MP:0010846 ! abnormal central memory CD8 positive, alpha-beta T cell morphology created_by: csmith creation_date: 2011-02-16T10:34:45Z [Term] id: MP:0010849 name: abnormal effector memory CD8-positive, alpha-beta T cell number def: "any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000913, GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720] synonym: "abnormal effector CD8-positive, alpha-beta memory T cell morphology" EXACT [] synonym: "abnormal effector CD8-positive, alpha-beta memory T lymphocyte morphology" EXACT [] synonym: "abnormal effector CD8-positive, alpha-beta memory T-cell morphology" EXACT [] synonym: "abnormal effector CD8-positive, alpha-beta memory T-lymphocyte morphology" EXACT [] synonym: "abnormal effector memory CD8-positive, alpha-beta T lymphocyte morphology" EXACT [] synonym: "abnormal effector memory CD8-positive, alpha-beta T-cell morphology" EXACT [] synonym: "abnormal effector memory CD8-positive, alpha-beta T-lymphocyte morphology" EXACT [] xref: CL:0000913 is_a: MP:0010837 ! abnormal CD8-positive, alpha-beta memory T cell morphology created_by: csmith creation_date: 2011-02-16T10:35:29Z [Term] id: MP:0010850 name: increased effector memory CD8-positive, alpha-beta T cell number def: "increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000913, GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720] synonym: "increased effector CD8-positive, alpha-beta memory T cell number" EXACT [] synonym: "increased effector CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "increased effector CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "increased effector CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "increased effector memory CD8-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "increased effector memory CD8-positive, alpha-beta T-cell number" EXACT [] synonym: "increased effector memory CD8-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000913 is_a: MP:0010838 ! increased CD8-positive, alpha-beta memory T cell number is_a: MP:0010849 ! abnormal effector memory CD8-positive, alpha-beta T cell number created_by: csmith creation_date: 2011-02-16T10:35:47Z [Term] id: MP:0010851 name: decreased effector memory CD8-positive, alpha-beta T cell number def: "reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000913, GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720] synonym: "decreased effector CD8-positive, alpha-beta memory T cell number" EXACT [] synonym: "decreased effector CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "decreased effector CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "decreased effector CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "decreased effector memory CD8-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "decreased effector memory CD8-positive, alpha-beta T-cell number" EXACT [] synonym: "decreased effector memory CD8-positive, alpha-beta T-lymphocyte number" EXACT [] synonym: "reduced effector CD8-positive, alpha-beta memory T cell number" EXACT [] synonym: "reduced effector CD8-positive, alpha-beta memory T lymphocyte number" EXACT [] synonym: "reduced effector CD8-positive, alpha-beta memory T-cell number" EXACT [] synonym: "reduced effector CD8-positive, alpha-beta memory T-lymphocyte number" EXACT [] synonym: "reduced effector memory CD8-positive, alpha-beta T lymphocyte number" EXACT [] synonym: "reduced effector memory CD8-positive, alpha-beta T-cell number" EXACT [] synonym: "reduced effector memory CD8-positive, alpha-beta T-lymphocyte number" EXACT [] xref: CL:0000913 is_a: MP:0010839 ! decreased CD8-positive, alpha-beta memory T cell number is_a: MP:0010849 ! abnormal effector memory CD8-positive, alpha-beta T cell number created_by: csmith creation_date: 2011-02-16T10:35:59Z [Term] id: MP:0010852 name: absent epidermal lamellar bodies def: "absence of a membrane-bounded organelle, specialized for the storage and secretion various substances (glycoproteins and acid phosphates) which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae" [GO:0042599] comment: The name includes epidermal to distinguish it from lung alveolar cell lamellar bodies. synonym: "absent keratinosomes" EXACT [] synonym: "absent lamellar bodies" EXACT [] synonym: "absent lamellar granules" EXACT [] synonym: "absent membrane-coating granules" RELATED [] synonym: "absent Odland bodies" EXACT [] synonym: "absent skin lamellar bodies" EXACT [] is_a: MP:0009608 ! abnormal epidermal lamellar body morphology created_by: csmith creation_date: 2011-02-16T12:16:50Z [Term] id: MP:0010853 name: abnormal lung position or orientation def: "the lung is displaced from the normal position and/or has an altered left/right orientation" [MGI:csmith] is_a: MP:0001175 ! abnormal lung morphology created_by: csmith creation_date: 2011-02-17T02:05:46Z [Term] id: MP:0010854 name: lung situs inversus def: "anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith] synonym: "pulmonary situs inversus" EXACT [] is_a: MP:0004133 ! heterotaxia is_a: MP:0010853 ! abnormal lung position or orientation created_by: csmith creation_date: 2011-02-17T02:09:11Z [Term] id: MP:0010855 name: pulmonary hyperemia def: "increased amount of blood flow into the lungs" [MGI:csmith] synonym: "lung hyperemia" EXACT [] is_a: MP:0002295 ! abnormal pulmonary circulation created_by: csmith creation_date: 2011-02-17T02:53:31Z [Term] id: MP:0010856 name: dilated respiratory conducting tubes def: "expansion or widening of the lumens of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs" [MGI:csmith] synonym: "dilated conducting airways" EXACT [] synonym: "enlarged conducting air spaces" EXACT [] synonym: "enlarged conducting airways" EXACT [] is_a: MP:0004391 ! abnormal respiratory conducting tube morphology created_by: csmith creation_date: 2011-02-17T03:08:25Z [Term] id: MP:0010857 name: pulmonary necrosis def: "pathological cell death in the lung, usually due to irreversible damage" [MGI:csmith] synonym: "lung necrosis" EXACT [] is_a: MP:0001175 ! abnormal lung morphology created_by: csmith creation_date: 2011-02-18T11:12:37Z [Term] id: MP:0010858 name: pulmonary epithelial necrosis def: "pathological cell death in the lung epithelium, usually due to irreversible damage" [MGI:csmith] is_a: MP:0010857 ! pulmonary necrosis created_by: csmith creation_date: 2011-02-18T11:22:52Z [Term] id: MP:0010859 name: abnormal anterior commissure pars anterior morphology def: "any structural anomaly of the small horseshoe-shaped anterior part of the anterior commissure which pass into the two olfactory bulbs" [ISBN:0-683-40008-8] synonym: "abnormal acA tract morphology" EXACT [] synonym: "abnormal aco" EXACT [] synonym: "abnormal anterior commissure olfactory limb" EXACT [] synonym: "abnormal anterior part of anterior commissure" EXACT [] synonym: "abnormal pars anterior commissurae anterioris" EXACT [] is_a: MP:0008225 ! abnormal anterior commissure morphology created_by: csmith creation_date: 2011-02-22T01:22:11Z [Term] id: MP:0010860 name: abnormal anterior commissure pars posterior morphology def: "any structural anomaly of the large posterior part of the anterior commissure which connects the right and left temporal lobes" [ISBN:0-683-40008-8] synonym: "abnormal acP tract morphology" EXACT [] synonym: "abnormal act" EXACT [] synonym: "abnormal anterior commissure temporal limb" EXACT [] synonym: "abnormal pars posterior commissurae anterioris" EXACT [] synonym: "abnormal posterior part of anterior commissure" EXACT [] is_a: MP:0008225 ! abnormal anterior commissure morphology created_by: csmith creation_date: 2011-02-22T01:22:36Z [Term] id: MP:0010861 name: increased respiratory mucosa goblet cell number def: "greater number of the cells of the respiratory epithelial lining that produce and secrete mucins" [MGI:anna] synonym: "respiratory mucosa goblet cell hyperplasia" EXACT [] is_a: MP:0002281 ! abnormal respiratory mucosa goblet cell morphology created_by: csmith creation_date: 2011-02-22T01:41:05Z [Term] id: MP:0010862 name: decreased respiratory mucosa goblet cell number def: "reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins" [MGI:anna] is_a: MP:0002281 ! abnormal respiratory mucosa goblet cell morphology created_by: csmith creation_date: 2011-02-22T01:41:30Z [Term] id: MP:0010863 name: absent respiratory mucosa goblet cells def: "absence of the cells of the respiratory epithelial lining that produce and secrete mucins" [MGI:anna] is_a: MP:0010862 ! decreased respiratory mucosa goblet cell number created_by: csmith creation_date: 2011-02-22T01:41:45Z [Term] id: MP:0010864 name: abnormal enamel knot morphology def: "any structural anomaly of a transient cluster of cells in the central part of the dental epithelium facing the dental mesenchyme, which acts as an organizing center, providing positional information for tooth morphogenesis and regulating the growth of tooth cusps" [MGI:csmith, PMID:8808404] is_a: MP:0010747 ! abnormal enamel organ morphology created_by: csmith creation_date: 2011-02-22T02:46:53Z [Term] id: MP:0010865 name: prenatal growth retardation def: "slow or limited development during the prenatal period" [MGI:csmith] synonym: "intrauterine growth restriction" EXACT [] is_a: MP:0004196 ! abnormal prenatal growth/weight/body size created_by: csmith creation_date: 2011-02-23T11:03:05Z [Term] id: MP:0010866 name: abnormal prenatal body size def: "anomaly in the average body weight, height and/or length of an organism compared to controls at anytime prior to birth" [MGI:csmith] is_a: MP:0004196 ! abnormal prenatal growth/weight/body size created_by: csmith creation_date: 2011-02-23T11:05:22Z [Term] id: MP:0010867 name: abnormal bone trabecula morphology def: "any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/, MGI:csmith] is_a: MP:0000130 ! abnormal trabecular bone morphology created_by: csmith creation_date: 2011-03-02T03:44:39Z [Term] id: MP:0010868 name: increased bone trabecula number def: "increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/, MGI:csmith] is_a: MP:0010867 ! abnormal bone trabecula morphology created_by: csmith creation_date: 2011-03-02T03:44:39Z [Term] id: MP:0010869 name: decreased bone trabecula number def: "decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/, MGI:csmith] synonym: "reduced bone trabecula number" EXACT [] is_a: MP:0010867 ! abnormal bone trabecula morphology created_by: csmith creation_date: 2011-03-02T03:44:39Z [Term] id: MP:0010870 name: absent bone trabeculae def: "absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/, MGI:csmith] is_a: MP:0010867 ! abnormal bone trabecula morphology created_by: csmith creation_date: 2011-03-02T03:44:39Z [Term] id: MP:0010871 name: abnormal trabecular bone mass def: "anomaly in the total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith] synonym: "abnormal cancellous bone mass" EXACT [] synonym: "abnormal spongy bone mass" EXACT [] synonym: "abnormal spongy spongiosa mass" EXACT [] synonym: "abnormal spongy substance mass" EXACT [] synonym: "abnormal substantia trabecularis mass" EXACT [] is_a: MP:0000130 ! abnormal trabecular bone morphology created_by: csmith creation_date: 2011-03-02T03:45:30Z [Term] id: MP:0010872 name: increased trabecular bone mass def: "greater total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith] synonym: "increased cancellous bone mass" EXACT [] synonym: "increased spongy bone mass" EXACT [] synonym: "increased spongy spongiosa mass" EXACT [] synonym: "increased spongy substance mass" EXACT [] synonym: "increased substantia trabecularis mass" EXACT [] is_a: MP:0005605 ! increased bone mass is_a: MP:0010871 ! abnormal trabecular bone mass created_by: csmith creation_date: 2011-03-02T03:45:30Z [Term] id: MP:0010873 name: decreased trabecular bone mass def: "reduced total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith] synonym: "decreased cancellous bone mass" EXACT [] synonym: "decreased spongy bone mass" EXACT [] synonym: "decreased spongy spongiosa mass" EXACT [] synonym: "decreased spongy substance mass" EXACT [] synonym: "decreased substantia trabecularis mass" EXACT [] is_a: MP:0004016 ! decreased bone mass is_a: MP:0010871 ! abnormal trabecular bone mass created_by: csmith creation_date: 2011-03-02T03:45:30Z [Term] id: MP:0010874 name: abnormal bone volume def: "any anomaly in the amount of space occupied by bone tissue in the skeleton" [MGI:csmith] is_a: MP:0003795 ! abnormal bone structure created_by: csmith creation_date: 2011-03-02T03:46:45Z [Term] id: MP:0010875 name: increased bone volume def: "increased amount of space occupied by bone tissue in the skeleton" [MGI:csmith] is_a: MP:0010874 ! abnormal bone volume created_by: csmith creation_date: 2011-03-02T03:46:45Z [Term] id: MP:0010876 name: decreased bone volume def: "reduced amount of space occupied by bone tissue in the skeleton" [MGI:csmith] synonym: "reduced bone volume" EXACT [] is_a: MP:0010874 ! abnormal bone volume created_by: csmith creation_date: 2011-03-02T03:46:45Z [Term] id: MP:0010877 name: abnormal trabecular bone volume def: "any anomaly in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith] synonym: "abnormal cancellous bone volume" EXACT [] synonym: "abnormal spongy bone volume" EXACT [] synonym: "abnormal spongy spongiosa volume" EXACT [] synonym: "abnormal spongy substance volume" EXACT [] synonym: "abnormal substantia trabecularis volume" EXACT [] is_a: MP:0000130 ! abnormal trabecular bone morphology is_a: MP:0010874 ! abnormal bone volume created_by: csmith creation_date: 2011-03-02T03:47:23Z [Term] id: MP:0010878 name: increased trabecular bone volume def: "increase in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith] synonym: "increased cancellous bone volume" EXACT [] synonym: "increased spongy bone volume" EXACT [] synonym: "increased spongy spongiosa volume" EXACT [] synonym: "increased spongy substance volume" EXACT [] synonym: "increased substantia trabecularis volume" EXACT [] is_a: MP:0010875 ! increased bone volume is_a: MP:0010877 ! abnormal trabecular bone volume created_by: csmith creation_date: 2011-03-02T03:47:23Z [Term] id: MP:0010879 name: decreased trabecular bone volume def: "decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith] synonym: "decreased cancellous bone volume" EXACT [] synonym: "decreased spongy bone volume" EXACT [] synonym: "decreased spongy spongiosa volume" EXACT [] synonym: "decreased spongy substance volume" EXACT [] synonym: "decreased substantia trabecularis volume" EXACT [] synonym: "reduced cancellous bone volume" EXACT [] synonym: "reduced spongy bone volume" EXACT [] synonym: "reduced spongy spongiosa volume" EXACT [] synonym: "reduced spongy substance volume" EXACT [] synonym: "reduced substantia trabecularis volume" EXACT [] synonym: "reduced trabecular bone volume" EXACT [] is_a: MP:0010876 ! decreased bone volume is_a: MP:0010877 ! abnormal trabecular bone volume created_by: csmith creation_date: 2011-03-02T03:47:23Z [Term] id: MP:0010880 name: small esophagus def: "reduced size of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:anna] is_a: MP:0000467 ! abnormal esophagus morphology created_by: csmith creation_date: 2011-03-02T04:00:16Z [Term] id: MP:0010881 name: esophagus hypoplasia def: "underdevelopment or decreased size of the esophagus, usually due a reduced number of cells" [MGI:anna] synonym: "esophageal hypoplasia" EXACT [] synonym: "hypoplastic esophagus" EXACT [] is_a: MP:0010880 ! small esophagus created_by: csmith creation_date: 2011-03-02T04:00:47Z [Term] id: MP:0010882 name: trachea hypoplasia def: "underdevelopment or reduced size of the trachea, usually due a reduced number of cells" [MGI:anna] synonym: "hypoplastic trachea" EXACT [] synonym: "tracheal hypoplasia" EXACT [] is_a: MP:0004549 ! small trachea created_by: csmith creation_date: 2011-03-02T04:02:01Z [Term] id: MP:0010883 name: trachea stenosis def: "abnormal narrowing or constriction of the trachea" [MGI:anna] synonym: "narrow trachea" EXACT [] synonym: "tracheal stenosis" EXACT [] is_a: MP:0002282 ! abnormal trachea morphology created_by: csmith creation_date: 2011-03-02T04:03:02Z [Term] id: MP:0010884 name: esophagus stenosis def: "abnormal narrowing or constriction of the esophagus" [MGI:anna] synonym: "esophageal stenosis" EXACT [] synonym: "narrow esophagus" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology created_by: csmith creation_date: 2011-03-02T04:03:58Z [Term] id: MP:0010885 name: absent trachea def: "absence of the tube descending from the larynx and branching into the right and left main bronchi" [MGI:anna] is_a: MP:0002282 ! abnormal trachea morphology created_by: csmith creation_date: 2011-03-02T04:05:08Z [Term] id: MP:0010886 name: absent minor salivary glands def: "all of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands are absent" [MGI:llw2] is_a: MP:0003791 ! abnormal minor salivary gland morphology created_by: csmith creation_date: 2011-03-02T04:06:16Z [Term] id: MP:0010887 name: pale lung def: "lung lacking normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:anna] is_a: MP:0001175 ! abnormal lung morphology created_by: csmith creation_date: 2011-03-02T04:07:19Z [Term] id: MP:0010889 name: small alveolar lamellar bodies def: "decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna] is_a: MP:0010813 ! abnormal alveolar lamellar body morphology created_by: csmith creation_date: 2011-03-02T04:15:20Z [Term] id: MP:0010890 name: decreased alveolar lamellar body number def: "reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna] is_a: MP:0010813 ! abnormal alveolar lamellar body morphology created_by: csmith creation_date: 2011-03-02T04:15:20Z [Term] id: MP:0010891 name: increased alveolar lamellar body number def: "greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna] is_a: MP:0010813 ! abnormal alveolar lamellar body morphology created_by: csmith creation_date: 2011-03-02T04:15:20Z [Term] id: MP:0010892 name: increased oligodendrocyte progenitor number def: "greater number of cells that differentiate into a type of glial cell in the central nervous system" [MGI:csmith] synonym: "increased oligodendrocyte precursor number" EXACT [] is_a: MP:0000913 ! abnormal brain development created_by: csmith creation_date: 2011-03-02T04:18:41Z [Term] id: MP:0010893 name: abnormal posterior commissure morphology def: "any structural anomaly of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei" [ISBN:0-683-40008-8] synonym: "abnormal epithalamic commissure morphology" EXACT [] is_a: MP:0002199 ! abnormal brain commissure morphology created_by: csmith creation_date: 2011-03-04T10:12:41Z [Term] id: MP:0010894 name: pulmonary alveolar edema def: "an effusion of serous fluid into the pulmonary alveoli; usually caused by the movement of blood components through the pulmonary capillary walls as a result of a change in osmotic pressure, an increased permeability of the walls, or related factors" [MGI:anna] is_a: MP:0003828 ! pulmonary edema created_by: csmith creation_date: 2011-03-04T12:43:22Z [Term] id: MP:0010895 name: increased lung compliance def: "increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure" [ISBN:070202788] synonym: "increased pulmonary compliance" EXACT [] is_a: MP:0002333 ! abnormal lung compliance created_by: csmith creation_date: 2011-03-04T01:01:00Z [Term] id: MP:0010896 name: decreased lung compliance def: "reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure" [ISBN:070202788] synonym: "decreased pulmonary compliance" EXACT [] synonym: "reduced lung compliance" EXACT [] is_a: MP:0002333 ! abnormal lung compliance created_by: csmith creation_date: 2011-03-04T01:01:36Z [Term] id: MP:0010897 name: abnormal bronchiole epithelium morphology def: "any structural anomaly of the epithelial layer of the bronchioles" [MGI:csmith] is_a: MP:0002267 ! abnormal bronchiole morphology is_a: MP:0006382 ! abnormal lung epithelium morphology created_by: csmith creation_date: 2011-03-04T01:16:28Z [Term] id: MP:0010898 name: abnormal pulmonary alveolus epithelium morphology def: "any structural anomaly of the epithelial layer of the alveoli" [MGI:csmith] synonym: "abnormal respiratory alveolus epithelium morphology" EXACT [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology is_a: MP:0006382 ! abnormal lung epithelium morphology created_by: csmith creation_date: 2011-03-04T01:16:56Z [Term] id: MP:0010899 name: abnormal pulmonary alveolar system morphology is_a: MP:0001175 ! abnormal lung morphology created_by: csmith creation_date: 2011-03-04T01:25:38Z [Term] id: MP:0010900 name: abnormal pulmonary interalveolar septum morphology def: "any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal alveolar septum morphology " EXACT [] synonym: "abnormal interalveolar septum morphology" EXACT [] synonym: "abnormal septum interalveolare morphology" EXACT [] is_a: MP:0010911 ! abnormal pulmonary acinus morphology created_by: csmith creation_date: 2011-03-04T01:26:37Z [Term] id: MP:0010901 name: abnormal pulmonary alveolar parenchyma morphology def: "any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages" [ISBN:070202788, MGI:csmith] is_a: MP:0010899 ! abnormal pulmonary alveolar system morphology created_by: csmith creation_date: 2011-03-04T01:27:30Z [Term] id: MP:0010902 name: abnormal pulmonary alveolar sac morphology def: "any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters" [ISBN:0-683-40008-8] synonym: "abnormal air sac morphology" EXACT [] is_a: MP:0010911 ! abnormal pulmonary acinus morphology created_by: csmith creation_date: 2011-03-04T01:41:11Z [Term] id: MP:0010903 name: abnormal pulmonary alveolus wall morphology is_a: MP:0002270 ! abnormal pulmonary alveolus morphology created_by: csmith creation_date: 2011-03-04T01:52:28Z [Term] id: MP:0010904 name: abnormal alveolar pore morphology def: "any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli" [ISBN:0-683-40008-8] synonym: "abnormal interalveolar pores" EXACT [] synonym: "abnormal pores of Kohn" EXACT [] is_a: MP:0010900 ! abnormal pulmonary interalveolar septum morphology created_by: csmith creation_date: 2011-03-04T02:49:12Z [Term] id: MP:0010905 name: absent alveolar pores def: "absence of the openings in the alveolar septum that permit air flow between adjacent alveoli" [ISBN:0-683-40008-8] synonym: "absent interalveolar pores" EXACT [] synonym: "absent pores of Kohn" EXACT [] is_a: MP:0010904 ! abnormal alveolar pore morphology created_by: csmith creation_date: 2011-03-04T02:50:18Z [Term] id: MP:0010906 name: abnormal lung bud morphology def: "any structural anomaly of the primary outgrowth of the embryonic trachea i.e. blunt end of the respiratory diverticulum which grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the anlage of a primary bronchus and all its branches" [MGI:anna] synonym: "abnormal lung buds" EXACT [] synonym: "abnormal primary lung bud morphology" EXACT [] synonym: "abnormal tracheal bud morphology" EXACT [] is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-03-04T02:58:37Z [Term] id: MP:0010907 name: absent lung buds def: "absence of the blunt end of the respiratory diverticulum which normally grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the origins of the bronchial tree" [MGI:anna] synonym: "absent primary lung buds" EXACT [] synonym: "absent tracheal buds" EXACT [] synonym: "lung bud agenesis" EXACT [] is_a: MP:0010906 ! abnormal lung bud morphology created_by: csmith creation_date: 2011-03-04T02:59:58Z [Term] id: MP:0010908 name: dilated pulmonary alveolar ducts def: "expansion or widening of the lumens of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli" [MGI:anna] synonym: "dilated alveolar ducts" EXACT [] synonym: "dilated respiratory alveolar ducts" EXACT [] synonym: "enlarged alveolar ducts" EXACT [] is_a: MP:0002271 ! abnormal pulmonary alveolar duct morphology created_by: csmith creation_date: 2011-03-04T03:06:00Z [Term] id: MP:0010909 name: pulmonary alveolar hemorrhage def: "bleeding into the small sac-like dilations of the distal airspace of the lung" [MGI:anna] synonym: "alveolar bleeding" EXACT [] synonym: "alveolar hemorrhage" EXACT [] synonym: "intra-alveolar hemorrhage" EXACT [] synonym: "lung alveolar hemorrhage" EXACT [] is_a: MP:0001182 ! lung hemorrhage created_by: csmith creation_date: 2011-03-04T03:08:24Z [Term] id: MP:0010910 name: bronchiolar epithelial hyperplasia def: "increased size, often due to increased epithelial cell number, of the epithelial layer of the bronchioles" [MGI:csmith] synonym: "hyperplastic bronchiolar epithelium" EXACT [] is_a: MP:0010897 ! abnormal bronchiole epithelium morphology created_by: csmith creation_date: 2011-03-08T09:42:20Z [Term] id: MP:0010911 name: abnormal pulmonary acinus morphology def: "any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches" [ISBN:0-683-40008-8] synonym: "abnormal primary pulmonary lobule morphology" EXACT [] synonym: "abnormal respiratory lobule morphology" EXACT [] is_a: MP:0010899 ! abnormal pulmonary alveolar system morphology created_by: csmith creation_date: 2011-03-10T12:31:53Z [Term] id: MP:0010912 name: herniated liver def: "protrusion of any portion of the liver from its normal anatomical position" [MGI:anna] synonym: "hepatic herniation" EXACT [] synonym: "liver hernia" EXACT [] is_a: MP:0000598 ! abnormal liver morphology created_by: csmith creation_date: 2011-03-10T12:56:06Z [Term] id: MP:0010913 name: abnormal neuroendocrine cell morphology def: "any structural anomaly of a neuron that has the specialized function to produce and secrete hormones, contains neruosecretory granules, and that constitutes, in whole or in part, an endocrine organ or system" [CL:0000165, MESH:A.06.688] synonym: "abnormal neurosecretory cell morphology" EXACT [] synonym: "abnormal paraneurone morphology" EXACT [] xref: CL:0000165 xref: FMA:83810 is_a: MP:0000631 ! abnormal neuroendocrine gland morphology is_a: MP:0002882 ! abnormal neuron morphology created_by: csmith creation_date: 2011-03-10T03:07:49Z [Term] id: MP:0010914 name: abnormal solitary pulmonary neuroendocrine cell morphology def: "any structural anomaly of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis" [MGI:anna] synonym: "abnormal bronchiolar Kulchitsky cell" EXACT [] synonym: "abnormal Feyrter cell morphology" EXACT [] synonym: "abnormal Kulschitzky cells" EXACT [] synonym: "abnormal Kultschitzky cell of bronchiole" EXACT [] synonym: "abnormal P cell" BROAD [] synonym: "abnormal PNECs" EXACT [] synonym: "abnormal respiratory enterochromaffin cell" EXACT [] synonym: "abnormal single pulmonary neuroendocrine cell morphology" EXACT [] xref: CL:0002066 xref: FMA:14118 is_a: MP:0010913 ! abnormal neuroendocrine cell morphology created_by: csmith creation_date: 2011-03-10T03:46:27Z [Term] id: MP:0010915 name: increased solitary pulmonary neuroendocrine cell number def: "increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis" [MGI:anna] synonym: "increased bronchiolar Kulchitsky cell number" EXACT [] synonym: "increased Feyrter cell number" EXACT [] synonym: "increased Kulschitzky cells" EXACT [] synonym: "increased Kultschitzky cell of bronchiole number" EXACT [] synonym: "increased P cell number" BROAD [] synonym: "increased PNECs" EXACT [] synonym: "increased respiratory enterochromaffin cell number" EXACT [] synonym: "increased single pulmonary neuroendocrine cell number" EXACT [] xref: CL:0002066 xref: FMA:14118 is_a: MP:0010914 ! abnormal solitary pulmonary neuroendocrine cell morphology created_by: csmith creation_date: 2011-03-10T03:51:46Z [Term] id: MP:0010916 name: decreased solitary pulmonary neuroendocrine cell number def: "decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis" [MGI:anna] synonym: "decreased bronchiolar Kulchitsky cell number" EXACT [] synonym: "decreased Feyrter cell number" EXACT [] synonym: "decreased Kulschitzky cells" EXACT [] synonym: "decreased Kultschitzky cell of bronchiole number" EXACT [] synonym: "decreased P cell number" BROAD [] synonym: "decreased PNECs" EXACT [] synonym: "decreased respiratory enterochromaffin cell number" EXACT [] synonym: "decreased single pulmonary neuroendocrine cell number" EXACT [] synonym: "reduced bronchiolar Kulchitsky cell number" EXACT [] synonym: "reduced Feyrter cell number" EXACT [] synonym: "reduced Kulschitzky cells" EXACT [] synonym: "reduced Kultschitzky cell of bronchiole number" EXACT [] synonym: "reduced P cell number" BROAD [] synonym: "reduced PNECs" EXACT [] synonym: "reduced respiratory enterochromaffin cell number" EXACT [] synonym: "reduced single pulmonary neuroendocrine cell number" EXACT [] xref: CL:0002066 xref: FMA:14118 is_a: MP:0010914 ! abnormal solitary pulmonary neuroendocrine cell morphology created_by: csmith creation_date: 2011-03-10T03:51:46Z [Term] id: MP:0010917 name: absent solitary pulmonary neuroendocrine cells def: "absence of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis" [MGI:anna] synonym: "absent bronchiolar Kulchitsky cell" EXACT [] synonym: "absent Feyrter cell" EXACT [] synonym: "absent Kulschitzky cells" EXACT [] synonym: "absent Kultschitzky cell of bronchiole" EXACT [] synonym: "absent P cell" BROAD [] synonym: "absent PNECs" EXACT [] synonym: "absent respiratory enterochromaffin cell" EXACT [] synonym: "absent single pulmonary neuroendocrine cell" EXACT [] xref: CL:0002066 xref: FMA:14118 is_a: MP:0010914 ! abnormal solitary pulmonary neuroendocrine cell morphology created_by: csmith creation_date: 2011-03-10T03:51:46Z [Term] id: MP:0010918 name: abnormal pulmonary neuroendocrine body morphology def: "any structural anomaly of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors" [MGI:anna] synonym: "abnormal NEBs" BROAD [] synonym: "abnormal pulmonary neuroendocrine bodies" BROAD [] synonym: "abnormal pulmonary neuroepithelial bodies" BROAD [] is_a: MP:0006382 ! abnormal lung epithelium morphology created_by: csmith creation_date: 2011-03-10T03:54:36Z [Term] id: MP:0010919 name: increased number of pulmonary neuroendocrine bodies def: "greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors" [MGI:anna] synonym: "increased NEBs" EXACT [] synonym: "increased pulmonary neuroepithelial body number" EXACT [] is_a: MP:0010918 ! abnormal pulmonary neuroendocrine body morphology created_by: csmith creation_date: 2011-03-10T03:58:13Z [Term] id: MP:0010920 name: decreased number of pulmonary neuroendocrine bodies def: "reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors" [MGI:anna] synonym: "decreased NEBs" EXACT [] synonym: "decreased pulmonary neuroepithelial body number" EXACT [] synonym: "reduced NEBs" EXACT [] synonym: "reduced number of pulmonary neuroendocrine bodies" EXACT [] synonym: "reduced pulmonary neuroepithelial body number" EXACT [] is_a: MP:0010918 ! abnormal pulmonary neuroendocrine body morphology created_by: csmith creation_date: 2011-03-10T03:58:13Z [Term] id: MP:0010921 name: absent pulmonary neuroendocrine bodies def: "absence of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors" [MGI:anna] synonym: "absent NEBs" EXACT [] synonym: "absent pulmonary neuroepithelial bodies" EXACT [] is_a: MP:0010918 ! abnormal pulmonary neuroendocrine body morphology created_by: csmith creation_date: 2011-03-10T03:58:13Z [Term] id: MP:0010922 name: alveolitis def: "inflammation of the small sac-like dilations of the distal airspace of the lung; acute pulmonary alveolitis involves exudate into the pulmonary alveoli and impaired gas exchange" [MGI:anna] synonym: "alveolar inflammation" EXACT [] synonym: "alveolus inflammation" EXACT [] is_a: MP:0001861 ! lung inflammation created_by: csmith creation_date: 2011-03-10T04:01:31Z [Term] id: MP:0010923 name: calcified pulmonary alveolus def: "pathologic deposition of calcium salts in the pulmonary alveoli" [MGI:anna] synonym: "alveolar calcinosis" EXACT [] synonym: "pulmonary alveolar calcification" BROAD [] synonym: "pulmonary alveolus calcification" EXACT [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology created_by: csmith creation_date: 2011-03-10T04:03:13Z [Term] id: MP:0010924 name: abnormal osteoid morphology def: "any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin" [ISBN:0-683-40008-8] synonym: "abnormal prebone tissue morphology" EXACT [] is_a: MP:0002113 ! abnormal skeleton development created_by: csmith creation_date: 2011-03-14T12:16:12Z [Term] id: MP:0010925 name: abnormal osteoid volume def: "any anomaly in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts" [ISBN:0-683-40008-8] synonym: "abnormal prebone tissue volume" EXACT [] is_a: MP:0010924 ! abnormal osteoid morphology created_by: csmith creation_date: 2011-03-14T12:38:50Z [Term] id: MP:0010926 name: increased osteoid volume def: "increase in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts" [ISBN:0-683-40008-8] synonym: "increased prebone tissue volume" EXACT [] is_a: MP:0010925 ! abnormal osteoid volume created_by: csmith creation_date: 2011-03-14T12:39:31Z [Term] id: MP:0010927 name: decreased osteoid volume def: "reduction in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts" [ISBN:0-683-40008-8] synonym: "decreased prebone tissue volume" EXACT [] synonym: "reduced osteoid volume" EXACT [] synonym: "reduced prebone tissue volume" EXACT [] is_a: MP:0010925 ! abnormal osteoid volume created_by: csmith creation_date: 2011-03-14T12:39:31Z [Term] id: MP:0010928 name: abnormal osteoid thickness def: "anomaly in the width of the layer of newly formed organic bone matrix secreted by osteoblasts" [ISBN:0-683-40008-8] synonym: "abnormal prebone tissue thickness" EXACT [] is_a: MP:0010924 ! abnormal osteoid morphology created_by: csmith creation_date: 2011-03-14T12:39:37Z [Term] id: MP:0010929 name: increased osteoid thickness def: "increase in the width of the layer of newly formed organic bone matrix secreted by osteoblasts" [ISBN:0-683-40008-8] synonym: "increased prebone tissue thickness" EXACT [] is_a: MP:0010928 ! abnormal osteoid thickness created_by: csmith creation_date: 2011-03-14T12:40:07Z [Term] id: MP:0010930 name: decreased osteoid thickness def: "reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts" [ISBN:0-683-40008-8] synonym: "decreased prebone tissue thickness" EXACT [] synonym: "reduced osteoid thickness" EXACT [] synonym: "reduced prebone tissue thickness" EXACT [] is_a: MP:0010928 ! abnormal osteoid thickness created_by: csmith creation_date: 2011-03-14T12:40:07Z [Term] id: MP:0010931 name: abnormal trabecular bone connectivity density def: "any anomaly in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures" [ISBN:0120986523] synonym: "abnormal trabecular bone interconnectivity index" EXACT [] is_a: MP:0000130 ! abnormal trabecular bone morphology created_by: csmith creation_date: 2011-03-14T01:28:48Z [Term] id: MP:0010932 name: increased trabecular bone connectivity density def: "increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures" [ISBN:0120986523] synonym: "increased trabecular bone interconnectivity index" EXACT [] is_a: MP:0010931 ! abnormal trabecular bone connectivity density created_by: csmith creation_date: 2011-03-14T02:05:30Z [Term] id: MP:0010933 name: decreased trabecular bone connectivity density def: "reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures" [ISBN:0120986523] synonym: "decreased trabecular bone interconnectivity index" EXACT [] synonym: "reduced trabecular bone connectivity density" EXACT [] synonym: "reduced trabecular bone interconnectivity index" EXACT [] is_a: MP:0010931 ! abnormal trabecular bone connectivity density created_by: csmith creation_date: 2011-03-14T02:05:58Z [Term] id: MP:0010934 name: increased subcutaneous adipose tissue amount def: "increase in amount of adipose tissue beneath the skin" [MGI:csmith] is_a: MP:0001781 ! abnormal white adipose tissue amount is_a: MP:0011156 ! abnormal hypodermis fat layer morphology created_by: mgi creation_date: 2011-03-15T01:58:22Z [Term] id: MP:0010935 name: increased airway resistance def: "greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow" [MGI:csmith] is_a: MP:0002328 ! abnormal airway resistance created_by: mgi creation_date: 2011-03-15T02:04:15Z [Term] id: MP:0010936 name: decreased airway resistance def: "reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow" [MGI:csmith] is_a: MP:0002328 ! abnormal airway resistance created_by: mgi creation_date: 2011-03-15T02:04:39Z [Term] id: MP:0010937 name: increased total lung capacity def: "greater volume of air contained in the lungs at the end of maximal inspiration" [MGI:csmith] is_a: MP:0002304 ! abnormal total lung capacity created_by: mgi creation_date: 2011-03-15T02:08:19Z [Term] id: MP:0010938 name: decreased total lung capacity def: "reduced volume of air contained in the lungs at the end of maximal inspiration" [MGI:csmith] is_a: MP:0002304 ! abnormal total lung capacity created_by: mgi creation_date: 2011-03-15T02:08:19Z [Term] id: MP:0010939 name: abnormal mandibular prominence morphology def: "any structural anomaly of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip" [ISBN:0-683-40008-8] synonym: "abnormal mandibular process morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development created_by: mgi creation_date: 2011-03-15T02:30:40Z [Term] id: MP:0010940 name: abnormal maxillary prominence morphology def: "any structural anomaly of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw" [ISBN:0-683-40008-8] synonym: "abnormal embryonic maxillary process morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development created_by: mgi creation_date: 2011-03-15T02:31:27Z [Term] id: MP:0010941 name: abnormal foramen magnum morphology def: "any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal great foramen morphology" RELATED [] is_a: MP:0005269 ! abnormal occipital bone morphology created_by: mgi creation_date: 2011-03-15T02:57:43Z [Term] id: MP:0010942 name: abnormal respiratory epithelium morphology def: "any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi" [ISBN:0-683-40008-8, MGI:anna] is_a: MP:0002132 ! abnormal respiratory system morphology created_by: csmith creation_date: 2011-03-18T11:29:45Z [Term] id: MP:0010943 name: abnormal bronchus epithelium morphology def: "any structural anomaly of the epithelial layer of the bronchi" [MGI:anna] synonym: "abnormal bronchial epithelium morphology" EXACT [] is_a: MP:0002264 ! abnormal bronchus morphology is_a: MP:0006382 ! abnormal lung epithelium morphology created_by: csmith creation_date: 2011-03-18T11:31:02Z [Term] id: MP:0010944 name: respiratory epithelium hypertrophy def: "increase in the bulk size of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi; may be due to cell enlargement or excessive production/accumulation of mucus material" [ISBN:0-683-40008-8, MGI:anna] synonym: "hypertrophic airway epithelium" EXACT [] is_a: MP:0010942 ! abnormal respiratory epithelium morphology created_by: csmith creation_date: 2011-03-18T11:35:17Z [Term] id: MP:0010945 name: lung epithelium hyperplasia def: "overdevelopment or increased size, usually due an increased number of cells in the epithelial layer of the lung" [MGI:anna] synonym: "hyperplastic lung epithelium" EXACT [] is_a: MP:0010942 ! abnormal respiratory epithelium morphology created_by: csmith creation_date: 2011-03-18T11:39:12Z [Term] id: MP:0010946 name: hyperpnea def: "breathing that is deeper and more rapid than normal" [ISBN:0-683-40008-8] is_a: MP:0001951 ! abnormal breathing pattern created_by: csmith creation_date: 2011-03-18T02:51:44Z [Term] id: MP:0010947 name: abnormal single-strand DNA break repair def: "anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair" [GO:0000012] synonym: "abnormal single strand break repair" EXACT [] xref: GO:0000012 is_a: MP:0008058 ! abnormal DNA repair created_by: csmith creation_date: 2011-03-18T03:52:40Z [Term] id: MP:0010948 name: abnormal double-strand DNA break repair def: "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302] synonym: "abnormal double-strand break repair" EXACT [] xref: GO:00006302 is_a: MP:0008058 ! abnormal DNA repair created_by: csmith creation_date: 2011-03-18T03:52:57Z [Term] id: MP:0010949 name: decreased Clara cell number def: "reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium" [MGI:anna] synonym: "decreased bronchiolar exocrine cell number" EXACT [] synonym: "reduced bronchiolar exocrine cell number" EXACT [] synonym: "reduced Clara cell number" EXACT [] is_a: MP:0010809 ! abnormal Clara cell morphology created_by: csmith creation_date: 2011-03-23T09:04:19Z [Term] id: MP:0010950 name: abnormal lung hysteresivity def: "anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue" [PMID:2606848] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2011-03-23T10:12:37Z [Term] id: MP:0010951 name: abnormal lipid oxidation def: "anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen" [GO:0034440] xref: GO:0034440 is_a: MP:0002118 ! abnormal lipid homeostasis is_a: MP:0005621 ! abnormal cell physiology created_by: csmith creation_date: 2011-03-23T03:45:21Z [Term] id: MP:0010952 name: abnormal fatty acid beta-oxidation def: "anomaly in the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively)" [GO:0006635] xref: GO:0006635 is_a: MP:0010953 ! abnormal fatty acid oxidation created_by: csmith creation_date: 2011-03-23T03:45:36Z [Term] id: MP:0010953 name: abnormal fatty acid oxidation def: "anomaly in the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen." [GO:0019395] xref: GO:0019395 is_a: MP:0010951 ! abnormal lipid oxidation created_by: csmith creation_date: 2011-03-23T03:46:18Z [Term] id: MP:0010954 name: abnormal cellular respiration def: "anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration)" [GO:0045333] synonym: "abnormal oxidative metabolic process" EXACT [] synonym: "abnormal oxidative metabolism" EXACT [] xref: GO:0045333 is_a: MP:0005621 ! abnormal cell physiology created_by: csmith creation_date: 2011-03-23T03:49:41Z [Term] id: MP:0010955 name: abnormal respiratory electron transport chain def: "anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient" [GO:0022904] xref: GO:0022904 is_a: MP:0010954 ! abnormal cellular respiration created_by: csmith creation_date: 2011-03-23T03:51:28Z [Term] id: MP:0010956 name: abnormal mitochondrial ATP synthesis coupled electron transport def: "anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV" [GO:0042775, MGI:csmith] is_a: MP:0010955 ! abnormal respiratory electron transport chain is_a: MP:0010959 ! abnormal oxidative phosphorylation created_by: csmith creation_date: 2011-03-23T03:52:57Z [Term] id: MP:0010957 name: abnormal aerobic respiration def: "any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor" [GO:0009060] xref: GO:0009060 is_a: MP:0010954 ! abnormal cellular respiration created_by: csmith creation_date: 2011-03-24T11:21:55Z [Term] id: MP:0010958 name: abnormal tricarboxylic acid cycle def: "any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle" [GO:0006099] comment: In eukaryotes the tricarboxylic acid is confined to the mitochondria. synonym: "abnormal citric acid cycle" EXACT [] synonym: "abnormal Krebs cycle" EXACT [] synonym: "abnormal TCA cycle" EXACT [] xref: GO:0006099 is_a: MP:0010957 ! abnormal aerobic respiration created_by: csmith creation_date: 2011-03-24T11:23:08Z [Term] id: MP:0010959 name: abnormal oxidative phosphorylation def: "any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis" [GO:0006119] xref: GO:0006119 is_a: MP:0005621 ! abnormal cell physiology created_by: csmith creation_date: 2011-03-24T11:40:43Z [Term] id: MP:0010960 name: abnormal compact bone mass def: "anomaly in the total amount of compact bone tissue contained in the skeleton" [MGI:csmith] synonym: "abnormal cortical bone mass" EXACT [] is_a: MP:0003797 ! abnormal compact bone morphology created_by: csmith creation_date: 2011-03-24T02:06:48Z [Term] id: MP:0010961 name: increased compact bone mass def: "greater than normal total amount of compact bone tissue contained in the skeleton" [MGI:csmith] synonym: "increased cortical bone mass" EXACT [] is_a: MP:0005605 ! increased bone mass is_a: MP:0010960 ! abnormal compact bone mass created_by: csmith creation_date: 2011-03-24T02:07:07Z [Term] id: MP:0010962 name: decreased compact bone mass def: "less than normal total amount of compact bone tissue contained in the skeleton" [MGI:csmith] synonym: "decreased cortical bone mass" EXACT [] synonym: "reduced compact bone mass" EXACT [] synonym: "reduced cortical bone mass" EXACT [] is_a: MP:0004016 ! decreased bone mass is_a: MP:0010960 ! abnormal compact bone mass created_by: csmith creation_date: 2011-03-24T02:07:25Z [Term] id: MP:0010963 name: abnormal compact bone volume def: "any anomaly in the amount of space occupied by compact bone tissue in the skeleton" [MGI:csmith] synonym: "abnormal cortical bone volume" EXACT [] is_a: MP:0003797 ! abnormal compact bone morphology is_a: MP:0010874 ! abnormal bone volume created_by: csmith creation_date: 2011-03-24T02:08:19Z [Term] id: MP:0010964 name: increased compact bone volume def: "greater than normal amount of space occupied by compact bone tissue in the skeleton" [MGI:csmith] synonym: "increased cortical bone volume" EXACT [] is_a: MP:0010875 ! increased bone volume is_a: MP:0010963 ! abnormal compact bone volume created_by: csmith creation_date: 2011-03-24T02:08:19Z [Term] id: MP:0010965 name: decreased compact bone volume def: "less than normal amount of space occupied by compact bone tissue in the skeleton" [MGI:csmith] synonym: "decreased cortical bone volume" EXACT [] synonym: "reduced compact bone volume" EXACT [] synonym: "reduced cortical bone volume" EXACT [] is_a: MP:0010876 ! decreased bone volume is_a: MP:0010963 ! abnormal compact bone volume created_by: csmith creation_date: 2011-03-24T02:08:19Z [Term] id: MP:0010966 name: abnormal compact bone area def: "anomaly in the total amount of cross-sectional area of compact bone tissue" [MGI:csmith] is_a: MP:0003797 ! abnormal compact bone morphology created_by: csmith creation_date: 2011-03-24T02:08:46Z [Term] id: MP:0010967 name: increased compact bone area def: "increase in the total amount of cross-sectional area of compact bone tissue" [MGI:csmith] is_a: MP:0010966 ! abnormal compact bone area created_by: csmith creation_date: 2011-03-24T02:09:17Z [Term] id: MP:0010968 name: decreased compact bone area def: "reduction in the total amount of cross-sectional area of compact bone tissue" [MGI:csmith] synonym: "reduced compact bone area" EXACT [] is_a: MP:0010966 ! abnormal compact bone area created_by: csmith creation_date: 2011-03-24T02:09:17Z [Term] id: MP:0010969 name: absent compact bone def: "absence of the outer layers of solid, hard bone that covers spongy bone" [ISBN:0-683-40008-8] synonym: "absent cortical bone" EXACT [] is_a: MP:0003797 ! abnormal compact bone morphology created_by: csmith creation_date: 2011-03-24T02:09:50Z [Term] id: MP:0010970 name: abnormal compact bone lamellar structure def: "any structural anomaly of the concentric layers of calcified matrix interspersed with osteocytes lodged in lacunae between the lamellae that comprise the cylindrical osteons" [MGI:csmith] is_a: MP:0003797 ! abnormal compact bone morphology created_by: csmith creation_date: 2011-03-24T02:10:13Z [Term] id: MP:0010971 name: abnormal periosteum morphology def: "any structural anomaly of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints" [ISBN:0-683-40008-8] is_a: MP:0003795 ! abnormal bone structure created_by: csmith creation_date: 2011-03-24T03:22:31Z [Term] id: MP:0010972 name: absent periosteum def: "absence of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints" [ISBN:0-683-40008-8] is_a: MP:0010971 ! abnormal periosteum morphology created_by: csmith creation_date: 2011-03-24T03:29:23Z [Term] id: MP:0010973 name: increased periosteum thickness def: "increased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints" [ISBN:0-683-40008-8] synonym: "thick periosteum" EXACT [] is_a: MP:0010971 ! abnormal periosteum morphology created_by: csmith creation_date: 2011-03-24T03:29:40Z [Term] id: MP:0010974 name: decreased periosteum thickness def: "decreased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints" [ISBN:0-683-40008-8] synonym: "reduced periosteum thickness" EXACT [] synonym: "thin periosteum" EXACT [] is_a: MP:0010971 ! abnormal periosteum morphology created_by: csmith creation_date: 2011-03-24T03:30:09Z [Term] id: MP:0010975 name: abnormal lung lobe morphology def: "any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)" [MGI:anna] comment: The human right lung is divided into three lobes as opposed to two lobes on the left, while the mouse right lung consists of four lobes as opposed to a single lobe on the left. is_a: MP:0001175 ! abnormal lung morphology created_by: csmith creation_date: 2011-03-24T03:38:48Z [Term] id: MP:0010976 name: small lung lobe def: "reduced size of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)" [MGI:anna] is_a: MP:0010975 ! abnormal lung lobe morphology created_by: csmith creation_date: 2011-03-24T03:40:20Z [Term] id: MP:0010977 name: fused right lung lobes def: "complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development" [MGI:anna] is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010975 ! abnormal lung lobe morphology created_by: csmith creation_date: 2011-03-24T03:40:20Z [Term] id: MP:0010978 name: absent ureteric bud def: "absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme" [PMID:19828308] synonym: "absent UB" EXACT [] is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-03-30T12:43:03Z [Term] id: MP:0010979 name: small ureteric bud def: "reduced size of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme" [PMID:19828308] synonym: "decreased ureteric bud size" EXACT [] synonym: "reduced ureteric bud size" EXACT [] synonym: "small UB" EXACT [] is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-03-30T12:43:03Z [Term] id: MP:0010980 name: ectopic ureteric bud def: "ureteric bud(s) are not located in the normal or expected position" [MGI:csmith] synonym: "ectopic UB" EXACT [] is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-03-30T12:43:03Z [Term] id: MP:0010981 name: abnormal branching involved in ureteric bud morphogenesis def: "anomaly in the process in which the branching structure of the ureteric bud is generated and organized" [GO:0001658] synonym: "abnormal ureteric bud branching" EXACT [] xref: GO:0001658 is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-03-30T01:14:06Z [Term] id: MP:0010982 name: abnormal ureteric bud elongation def: "any anomaly in the process in which a ureteric bud grows along its axis" [GO:0060677] is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-03-30T01:18:53Z [Term] id: MP:0010983 name: abnormal ureteric bud invasion def: "any anomaly in the process in which the ureteric bud grows into the metanephric mesenchyme, and contributes to the formation of the metanephros" [PMID:19828308] is_a: MP:0010982 ! abnormal ureteric bud elongation created_by: csmith creation_date: 2011-03-30T01:19:39Z [Term] id: MP:0010984 name: abnormal metanephric mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue" [MGI:csmith, PMID:19828308] synonym: "abnormal metanephric blastema morphology" EXACT [] synonym: "abnormal metanephric mesoderm morphology" EXACT [] synonym: "abnormal nephric mesenchyme morphology" EXACT [] is_a: MP:0010985 ! abnormal kidney mesenchyme morphology created_by: csmith creation_date: 2011-03-30T01:20:55Z [Term] id: MP:0010985 name: abnormal kidney mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing kidney" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0000527 ! abnormal kidney development created_by: csmith creation_date: 2011-03-30T01:31:46Z [Term] id: MP:0010986 name: abnormal mesonephric mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing mesonephros" [MGI:csmith] is_a: MP:0010985 ! abnormal kidney mesenchyme morphology created_by: csmith creation_date: 2011-03-30T01:32:27Z [Term] id: MP:0010987 name: abnormal nephrogenic mesenchyme morphogenesis def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing nephron" [MGI:csmith] is_a: MP:0010985 ! abnormal kidney mesenchyme morphology created_by: csmith creation_date: 2011-03-30T01:32:47Z [Term] id: MP:0010988 name: abnormal bronchial cartilage morphology def: "any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles" [MGI:anna] is_a: MP:0002264 ! abnormal bronchus morphology created_by: csmith creation_date: 2011-03-30T04:07:07Z [Term] id: MP:0010989 name: fused bronchial cartilage rings def: "fusion of the hyaline cartilaginous structures that support the bronchi" [MGI:anna] is_a: MP:0010988 ! abnormal bronchial cartilage morphology created_by: csmith creation_date: 2011-03-30T04:07:49Z [Term] id: MP:0010990 name: increased production of surfactant def: "greater production of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:anna] is_a: MP:0004779 ! abnormal production of surfactant created_by: csmith creation_date: 2011-03-30T04:12:45Z [Term] id: MP:0010991 name: decreased production of surfactant def: "reduced production of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:anna] synonym: "reduced production of surfactant" EXACT [] is_a: MP:0004779 ! abnormal production of surfactant created_by: csmith creation_date: 2011-03-30T04:13:01Z [Term] id: MP:0010992 name: increased surfactant secretion def: "greater release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:anna] is_a: MP:0004780 ! abnormal surfactant secretion created_by: csmith creation_date: 2011-03-30T04:13:18Z [Term] id: MP:0010993 name: decreased surfactant secretion def: "decreased release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:anna] synonym: "reduced surfactant secretion" EXACT [] is_a: MP:0004780 ! abnormal surfactant secretion created_by: csmith creation_date: 2011-03-30T04:13:34Z [Term] id: MP:0010994 name: aerophagia def: "excessive swallowing of air or gas" [MGI:anna] synonym: "aerophagy" EXACT [] synonym: "air swallowing" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2011-03-30T04:16:37Z [Term] id: MP:0010995 name: abnormal lung alveolus development def: "anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways" [GO:0048286] synonym: "abnormal alveolarization" EXACT [] synonym: "abnormal alveologenesis" EXACT [] synonym: "abnormal alveolus formation" EXACT [] synonym: "abnormal respiratory alveologenesis" EXACT [] is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-03-30T04:21:19Z [Term] id: MP:0010996 name: increased aorta wall thickness def: "increased depth of the part of the aorta that encloses the luminal space" [MGI:smb] is_a: MP:0009866 ! abnormal aorta wall morphology created_by: csmith creation_date: 2011-03-30T04:23:28Z [Term] id: MP:0010997 name: decreased aorta wall thickness def: "decreased depth of the part of the aorta that encloses the luminal space" [MGI:smb] synonym: "reduced aorta wall thickness" EXACT [] is_a: MP:0009866 ! abnormal aorta wall morphology created_by: csmith creation_date: 2011-03-30T04:23:28Z [Term] id: MP:0010998 name: pulmonary alveolar proteinosis def: "abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs" [MGI:anna] synonym: "alveolar lipoproteinosis" EXACT [] synonym: "alveolar phospholipidosis" EXACT [] synonym: "alveolar proteinosis" EXACT [] synonym: "PAP" EXACT [] synonym: "pulmonary alveolar lipoproteinosis" EXACT [] synonym: "pulmonary alveolar phospholipoproteinosis" EXACT [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology is_a: MP:0010999 ! proteinosis created_by: csmith creation_date: 2011-03-31T11:49:24Z [Term] id: MP:0010999 name: proteinosis def: "disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues" [ISBN:0-683-40008-8] is_a: MP:0008469 ! abnormal protein level created_by: csmith creation_date: 2011-03-31T11:52:00Z [Term] id: MP:0011000 name: abnormal allogrooming behavior def: "defects in the standard of behavior in which individuals in a cohort clean or maintain one another's outer body or appearance" [MGI:csmith] synonym: "abnormal allopreening behavior" EXACT [] is_a: MP:0001440 ! abnormal grooming behavior created_by: csmith creation_date: 2011-03-31T12:59:39Z [Term] id: MP:0011001 name: absence of AMPA-mediated synaptic currents def: "absence of a measured amplitude, current density or response to stimulation of NMDA receptors" [MGI:csmith] is_a: MP:0002885 ! abnormal AMPA-mediated synaptic currents created_by: csmith creation_date: 2011-03-31T01:28:50Z [Term] id: MP:0011002 name: enhanced AMPA-mediated synaptic currents def: "increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors" [MGI:csmith] is_a: MP:0002885 ! abnormal AMPA-mediated synaptic currents created_by: csmith creation_date: 2011-03-31T01:30:14Z [Term] id: MP:0011003 name: reduced AMPA-mediated synaptic currents def: "reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors" [MGI:csmith] is_a: MP:0002885 ! abnormal AMPA-mediated synaptic currents created_by: csmith creation_date: 2011-03-31T01:30:27Z [Term] id: MP:0011004 name: abnormal epidermal stem cell morphology def: "any structural anomaly of a somatic stem cell that is part of the epidermis" [CL:1000428] synonym: "abnormal stem cell of epidermis" EXACT [] xref: CL:1000428 xref: FMA:70541 is_a: MP:0003941 ! abnormal skin development created_by: csmith creation_date: 2011-03-31T01:57:30Z [Term] id: MP:0011005 name: abnormal epidermal stem cell physiology def: "any functional anomaly of a somatic stem cell that is part of the epidermis" [CL:1000428] is_a: MP:0005501 ! abnormal skin physiology created_by: csmith creation_date: 2011-03-31T01:59:49Z [Term] id: MP:0011006 name: abnormal epidermal stem cell proliferation def: "anomaly in the ability of the a a somatic stem cell population that is part of the epidermis to undergo expansion by cell division" [MGI:csmith] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0011005 ! abnormal epidermal stem cell physiology created_by: csmith creation_date: 2011-03-31T02:01:03Z [Term] id: MP:0011007 name: abnormal epidermal stem cell apoptosis def: "change in the timing or the number of somatic stem cells that are part of the epidermis, undergoing programmed cell death" [MGI:csmith] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0011005 ! abnormal epidermal stem cell physiology created_by: csmith creation_date: 2011-03-31T02:01:03Z [Term] id: MP:0011008 name: abnormal circulating glutamate dehydrogenase level def: "any anomaly in the concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH" [ISBN:0-683-40008-8] synonym: "abnormal circulating glutamic acid dehydrogenase level" EXACT [] synonym: "abnormal circulating L-glutamate dehydrogenase level" EXACT [] is_a: MP:0001570 ! abnormal circulating enzyme level created_by: csmith creation_date: 2011-03-31T03:28:34Z [Term] id: MP:0011009 name: increased circulating glutamate dehydrogenase level def: "increased concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH" [ISBN:0-683-40008-8] synonym: "increased circulating glutamic acid dehydrogenase level" EXACT [] synonym: "increased circulating L-glutamate dehydrogenase level" EXACT [] is_a: MP:0011008 ! abnormal circulating glutamate dehydrogenase level created_by: csmith creation_date: 2011-03-31T03:34:09Z [Term] id: MP:0011010 name: decreased circulating glutamate dehydrogenase level def: "reduced concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH" [ISBN:0-683-40008-8] synonym: "decreased circulating glutamic acid dehydrogenase level" EXACT [] synonym: "decreased circulating L-glutamate dehydrogenase level" EXACT [] synonym: "reduced circulating glutamate dehydrogenase level" EXACT [] synonym: "reduced circulating glutamic acid dehydrogenase level" EXACT [] synonym: "reduced circulating L-glutamate dehydrogenase level" EXACT [] is_a: MP:0011008 ! abnormal circulating glutamate dehydrogenase level created_by: csmith creation_date: 2011-03-31T03:34:39Z [Term] id: MP:0011011 name: impaired lung lobe morphogenesis def: "failure to form any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung" [MGI:anna] is_a: MP:0001176 ! abnormal lung development is_a: MP:0010975 ! abnormal lung lobe morphology created_by: csmith creation_date: 2011-04-06T12:15:05Z [Term] id: MP:0011012 name: bronchiectasis def: "a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchi and loss of elasticity of the bronchial walls" [MGI:anna] synonym: "bronchiectasia" EXACT [] is_a: MP:0001861 ! lung inflammation created_by: csmith creation_date: 2011-04-06T12:20:51Z [Term] id: MP:0011013 name: bronchiolectasis def: "a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchioles and loss of elasticity of the bronchiolar walls" [ISBN:0-683-40008-8] synonym: "bronchiolectasia" EXACT [] is_a: MP:0011012 ! bronchiectasis created_by: csmith creation_date: 2011-04-06T12:23:09Z [Term] id: MP:0011014 name: decreased core body temperature def: "reduced degree of heat natural to the internal center of a living being" [MGI:smb] synonym: "reduced core body temperature" EXACT [] is_a: MP:0005534 ! decreased body temperature created_by: csmith creation_date: 2011-04-06T01:03:06Z [Term] id: MP:0011015 name: decreased body surface temperature def: "reduced degree of heat natural to skin-environment interface of a living being" [MGI:smb] synonym: "reduced body surface temperature" EXACT [] is_a: MP:0005534 ! decreased body temperature created_by: csmith creation_date: 2011-04-06T01:03:25Z [Term] id: MP:0011016 name: increased core body temperature def: "increased degree of heat natural to the internal center of a living being" [MGI:smb] is_a: MP:0005533 ! increased body temperature created_by: csmith creation_date: 2011-04-06T01:15:13Z [Term] id: MP:0011017 name: increased surface body temperature def: "increased degree of heat natural to the internal center of a living being" [MGI:smb] is_a: MP:0005533 ! increased body temperature created_by: csmith creation_date: 2011-04-06T01:15:13Z [Term] id: MP:0011018 name: pulmonary hyaline membrane formation def: "abnormal presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles; hyaline membranes block gas exchange and are usually found at autopsy in individuals that have died of respiratory distress syndrome in the neonatal stages" [MGI:anna] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2011-04-06T01:23:04Z [Term] id: MP:0011019 name: abnormal adaptive thermogenesis def: "anomaly in the regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death" [PMID:16836744] synonym: "abnormal adaptive thermoregulation" EXACT [] synonym: "abnormal cold adaptation" NARROW [] synonym: "abnormal cold tolerance" NARROW [] synonym: "abnormal shivering response" NARROW [] is_a: MP:0001764 ! abnormal homeostasis created_by: csmith creation_date: 2011-04-06T01:33:56Z [Term] id: MP:0011020 name: abnormal circadian temperature homeostasis def: "any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours" [GO:0060086] synonym: "abnormal circadian regulation of body temperature" EXACT [] synonym: "abnormal circadian thermoregulation" EXACT [] is_a: MP:0001502 ! abnormal circadian rhythm is_a: MP:0001777 ! abnormal body temperature homeostasis created_by: csmith creation_date: 2011-04-06T02:05:49Z [Term] id: MP:0011021 name: abnormal circadian regulation of heart rate def: "anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours" [GO:0003053] synonym: "abnormal circadian regulation of heart contraction rate" EXACT [] is_a: MP:0001502 ! abnormal circadian rhythm is_a: MP:0001629 ! abnormal heart rate created_by: csmith creation_date: 2011-04-06T02:50:09Z [Term] id: MP:0011022 name: abnormal circadian regulation of systemic arterial blood pressure def: "any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours" [GO:0003052] is_a: MP:0001502 ! abnormal circadian rhythm is_a: MP:0010697 ! abnormal systemic arterial blood pressure regulation created_by: csmith creation_date: 2011-04-06T02:52:11Z [Term] id: MP:0011023 name: absent motile cilia def: "OBSOLETE. absence of cilia which have a variable arrangement, often with a 9 + 2 microtubular arrangement, of axonemal microtubules, contain molecular motors, and beat with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues" [GO:0031514] synonym: "absent motile secondary cilia" EXACT [] is_obsolete: true consider: MP:0004132 consider: MP:0004518 consider: MP:0004526 consider: MP:0004530 consider: MP:0004535 consider: MP:0011054 consider: MP:0011057 consider: MP:0011063 consider: MP:0011645 created_by: mgi creation_date: 2011-04-07T02:19:30Z [Term] id: MP:0011024 name: abnormal branching involved in lung morphogenesis def: "anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized" [MGI:csmith] is_a: MP:0001176 ! abnormal lung development created_by: mgi creation_date: 2011-04-07T02:56:11Z [Term] id: MP:0011025 name: abnormal branching involved in trachea morphogenesis def: "anomaly in the process in which the two main branches of the trachea is generated and organized" [MGI:csmith] is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011026 name: impaired branching involved in trachea morphogenesis def: "partial or complete failure of the process in which the two main branches of the trachea is generated and organized" [MGI:csmith] is_a: MP:0011025 ! abnormal branching involved in trachea morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011027 name: abnormal branching involved in bronchus morphogenesis def: "anomaly in the process in which the branched structure of the bronchus is generated and organized" [MGI:csmith] is_a: MP:0002264 ! abnormal bronchus morphology is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011028 name: impaired branching involved in bronchus morphogenesis def: "partial or complete failure of the process in which the branched structure of the bronchus is generated and organized" [MGI:csmith] is_a: MP:0011027 ! abnormal branching involved in bronchus morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011029 name: abnormal branching involved in preterminal bronchiole morphogenesis def: "anomaly in the process in which the branched structure of the preterminal bronchioles are generated and organized" [MGI:csmith] is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011030 name: impaired branching involved in preterminal bronchiole morphogenesis def: "partial or complete failure of the process in which the branched structure of the preterminal bronchioles are generated and organized" [MGI:csmith] is_a: MP:0011029 ! abnormal branching involved in preterminal bronchiole morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011031 name: abnormal branching involved in terminal bronchiole morphogenesis def: "anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized" [MGI:csmith] is_a: MP:0002268 ! abnormal terminal bronchiole morphology is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011032 name: impaired branching involved in terminal bronchiole morphogenesis def: "partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized" [MGI:csmith] is_a: MP:0011031 ! abnormal branching involved in terminal bronchiole morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011033 name: abnormal branching involved in respiratory bronchiole morphogenesis def: "anomaly in the process in which the branched structure of the respiratory bronchioles are generated" [MGI:csmith] is_a: MP:0004389 ! abnormal respiratory bronchiole morphology is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011034 name: impaired branching involved in respiratory bronchiole morphogenesis def: "partial or complete failure of the process in which the branched structure of the respiratory bronchioles are generated" [MGI:csmith] is_a: MP:0011033 ! abnormal branching involved in respiratory bronchiole morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011035 name: abnormal branching involved in alveolar duct morphogenesis def: "anomaly in the process in which the branched structure of the alveolar ducts are generated" [MGI:csmith] is_a: MP:0002271 ! abnormal pulmonary alveolar duct morphology is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011036 name: impaired branching involved in alveolar duct morphogenesis def: "partial or complete failure of the process in which the branched structure of the alveolar ducts are generated" [MGI:csmith] is_a: MP:0011035 ! abnormal branching involved in alveolar duct morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011037 name: abnormal branching involved in alveolar sac morphogenesis def: "anomaly in the process in which the terminal alveolar sacs are generated" [MGI:csmith] is_a: MP:0010902 ! abnormal pulmonary alveolar sac morphology is_a: MP:0011024 ! abnormal branching involved in lung morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011038 name: impaired branching involved in alveolar sac morphogenesis def: "partial or complete failure of the process in which the terminal alveolar sacs are generated" [MGI:csmith] is_a: MP:0011037 ! abnormal branching involved in alveolar sac morphogenesis created_by: mgi creation_date: 2011-04-07T03:03:12Z [Term] id: MP:0011039 name: abnormal vestibuloocular dark reflex def: "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light" [MGI:smb] synonym: "abnormal VORD" EXACT [] is_a: MP:0004844 ! abnormal vestibuloocular reflex created_by: mgi creation_date: 2011-04-08T01:03:43Z [Term] id: MP:0011040 name: abnormal vestibuloocular light reflex def: "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run with light" [MGI:smb] synonym: "abnormal VORL" EXACT [] is_a: MP:0004844 ! abnormal vestibuloocular reflex created_by: mgi creation_date: 2011-04-08T01:03:43Z [Term] id: MP:0011041 name: abnormal vertical vestibuloocular reflex def: "any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the vertical axis of the vestibular system" [MGI:smb] is_a: MP:0004844 ! abnormal vestibuloocular reflex created_by: mgi creation_date: 2011-04-08T01:03:43Z [Term] id: MP:0011042 name: abnormal horizontal vestibuloocular reflex def: "any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the horizontal axis of the vestibular system" [MGI:smb] is_a: MP:0004844 ! abnormal vestibuloocular reflex created_by: mgi creation_date: 2011-04-08T01:03:43Z [Term] id: MP:0011043 name: abnormal lung elastance def: "anomaly in the ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance" [MGI:anna] synonym: "abnormal lung elasticity" EXACT [] synonym: "abnormal pulmonary elastance" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: mgi creation_date: 2011-04-08T01:13:37Z [Term] id: MP:0011044 name: increased lung elastance def: "faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance" [MGI:anna] synonym: "increased lung elasticity" EXACT [] synonym: "increased pulmonary elastance" EXACT [] is_a: MP:0011043 ! abnormal lung elastance created_by: mgi creation_date: 2011-04-08T01:13:37Z [Term] id: MP:0011045 name: decreased lung elastance def: "reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance" [MGI:anna] synonym: "decreased lung elasticity" EXACT [] synonym: "decreased pulmonary elastance" EXACT [] synonym: "reduced lung elastance" EXACT [] synonym: "reduced lung elasticity" EXACT [] synonym: "reduced pulmonary elastance" EXACT [] is_a: MP:0011043 ! abnormal lung elastance created_by: mgi creation_date: 2011-04-08T01:13:37Z [Term] id: MP:0011046 name: abnormal lung tissue damping def: "anomaly in the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues" [MGI:anna] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: mgi creation_date: 2011-04-08T01:22:33Z [Term] id: MP:0011047 name: increased lung tissue damping def: "increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues" [MGI:anna] is_a: MP:0011046 ! abnormal lung tissue damping created_by: mgi creation_date: 2011-04-08T01:23:33Z [Term] id: MP:0011048 name: decreased lung tissue damping def: "reduced value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues" [MGI:anna] synonym: "reduced lung tissue damping" RELATED [] is_a: MP:0011046 ! abnormal lung tissue damping created_by: mgi creation_date: 2011-04-08T01:23:33Z [Term] id: MP:0011049 name: impaired adaptive thermogenesis def: "inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death" [MGI:csmith, PMID:16836744] synonym: "impaired adaptive thermoregulation" EXACT [] synonym: "impaired cold adaptation" NARROW [] synonym: "impaired cold tolerance" NARROW [] synonym: "impaired shivering response" NARROW [] is_a: MP:0011019 ! abnormal adaptive thermogenesis created_by: mgi creation_date: 2011-04-08T01:45:22Z [Term] id: MP:0011050 name: abnormal respiratory motile cilium morphology def: "any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna] synonym: "abnormal airway cilia morphology" EXACT [] synonym: "abnormal airway cilium morphology" EXACT [] synonym: "abnormal respiratory cilia morphology" EXACT [] synonym: "abnormal respiratory cilium morphology" EXACT [] synonym: "abnormal respiratory tract cilia morphology" EXACT [] synonym: "abnormal respiratory tract cilium morphology" EXACT [] is_a: MP:0010942 ! abnormal respiratory epithelium morphology created_by: csmith creation_date: 2011-04-14T09:50:52Z [Term] id: MP:0011051 name: abnormal respiratory motile cilium number def: "anomaly in the number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna] synonym: "abnormal airway cilia number" EXACT [] synonym: "abnormal airway cilium number" EXACT [] synonym: "abnormal respiratory cilia number" EXACT [] synonym: "abnormal respiratory cilium number" EXACT [] synonym: "abnormal respiratory tract cilia number" EXACT [] synonym: "abnormal respiratory tract cilium number" EXACT [] is_a: MP:0011050 ! abnormal respiratory motile cilium morphology created_by: csmith creation_date: 2011-04-14T11:00:43Z [Term] id: MP:0011052 name: increased respiratory motile cilia number def: "greater number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna] synonym: "increased airway cilia number" EXACT [] synonym: "increased airway cilium number" EXACT [] synonym: "increased respiratory cilia number" EXACT [] synonym: "increased respiratory cilium number" EXACT [] synonym: "increased respiratory tract cilia number" EXACT [] synonym: "increased respiratory tract cilium number" EXACT [] is_a: MP:0011051 ! abnormal respiratory motile cilium number created_by: csmith creation_date: 2011-04-14T11:05:37Z [Term] id: MP:0011053 name: decreased respiratory motile cilia number def: "reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna] synonym: "decreased airway cilia number" EXACT [] synonym: "decreased airway cilium number" EXACT [] synonym: "decreased respiratory cilia number" EXACT [] synonym: "decreased respiratory cilium number" EXACT [] synonym: "decreased respiratory tract cilia number" EXACT [] synonym: "decreased respiratory tract cilium number" EXACT [] is_a: MP:0011051 ! abnormal respiratory motile cilium number created_by: csmith creation_date: 2011-04-14T11:05:37Z [Term] id: MP:0011054 name: absent respiratory motile cilia def: "absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna] synonym: "absent airway cilia" EXACT [] synonym: "absent airway cilium" EXACT [] synonym: "absent respiratory cilia" EXACT [] synonym: "absent respiratory cilium" EXACT [] synonym: "absent respiratory tract cilia" EXACT [] synonym: "absent respiratory tract cilium" EXACT [] is_a: MP:0011053 ! decreased respiratory motile cilia number created_by: csmith creation_date: 2011-04-14T11:05:37Z [Term] id: MP:0011055 name: abnormal respiratory motile cilium physiology def: "any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency" [GO:0031514, MGI:anna] synonym: "abnormal airway cilia physiology" EXACT [] synonym: "abnormal airway cilium physiology" EXACT [] synonym: "abnormal respiratory cilia physiology" EXACT [] synonym: "abnormal respiratory cilium physiology" EXACT [] synonym: "abnormal respiratory tract cilia physiology" EXACT [] synonym: "abnormal respiratory tract cilium physiology" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2011-04-14T11:05:37Z [Term] id: MP:0011056 name: abnormal brain ependyma motile cilium morphology def: "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith] synonym: "abnormal brain ependyma motile cilia morphology" EXACT [] synonym: "abnormal brain ventricle motile cilium morphology" NARROW [] is_a: MP:0010152 ! abnormal brain ependyma morphology is_a: MP:0011059 ! abnormal ependyma motile cilium morphology created_by: csmith creation_date: 2011-04-14T11:48:18Z [Term] id: MP:0011057 name: absent brain ependyma motile cilia def: "absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith] synonym: "absent brain ependyma motile cilium" EXACT [] is_a: MP:0011056 ! abnormal brain ependyma motile cilium morphology created_by: csmith creation_date: 2011-04-14T11:48:40Z [Term] id: MP:0011058 name: abnormal spinal cord motile cilium morphology def: "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid" [MGI:csmith] synonym: "abnormal spinal cord motile cilia morphology" EXACT [] is_a: MP:0010151 ! abnormal spinal cord ependymal layer morphology is_a: MP:0011059 ! abnormal ependyma motile cilium morphology created_by: csmith creation_date: 2011-04-14T11:49:46Z [Term] id: MP:0011059 name: abnormal ependyma motile cilium morphology def: "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system" [MGI:csmith] synonym: "abnormal ependyma motile cilia morphology" EXACT [] is_a: MP:0002653 ! abnormal ependyma morphology created_by: csmith creation_date: 2011-04-14T11:50:19Z [Term] id: MP:0011060 name: abnormal kinocilium morphology def: "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells" [GO:0060091] synonym: "abnormal kinocilia morphology" EXACT [] is_a: MP:0000045 ! abnormal hair cell morphology created_by: csmith creation_date: 2011-04-14T12:47:59Z [Term] id: MP:0011061 name: abnormal inner hair cell kinocilium morphology def: "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091] synonym: "abnormal inner hair cell kinocilia morphology" EXACT [] is_a: MP:0004532 ! abnormal inner hair cell stereociliary bundle morphology is_a: MP:0011060 ! abnormal kinocilium morphology created_by: csmith creation_date: 2011-04-14T12:49:07Z [Term] id: MP:0011062 name: abnormal outer hair cell kinocilium morphology def: "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells" [GO:0060091] synonym: "abnormal outer hair cell kinocilia morphology" EXACT [] is_a: MP:0004527 ! abnormal outer hair cell stereociliary bundle morphology is_a: MP:0011060 ! abnormal kinocilium morphology created_by: csmith creation_date: 2011-04-14T12:49:07Z [Term] id: MP:0011063 name: absent inner hair cell kinocilia def: "absence of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091] is_a: MP:0011061 ! abnormal inner hair cell kinocilium morphology created_by: csmith creation_date: 2011-04-14T12:55:20Z [Term] id: MP:0011064 name: abnormal vestibular hair cell kinocilium morphology def: "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells" [GO:0060091, MGI:csmith] synonym: "abnormal vestibular hair cell kinocilia morphology" EXACT [] is_a: MP:0002623 ! abnormal vestibular hair cell morphology is_a: MP:0011060 ! abnormal kinocilium morphology created_by: csmith creation_date: 2011-04-14T12:59:19Z [Term] id: MP:0011065 name: abnormal kidney epithelial cell primary cilium morphology def: "any structural anomaly of the single non-motile cilium of a kidney epithelial cell that projects into the luminal space of the tubules and ducts where it is thought to act as a flow sensor" [PMID:17995581] synonym: "abnormal kidney epithelial cell primary cilia morphology" EXACT [] synonym: "abnormal renal epithelial cell primary cilia morphology" EXACT [] synonym: "abnormal renal epithelial cell primary cilium morphology" EXACT [] synonym: "abnormal renal primary cilium morphology" EXACT [] is_a: MP:0004967 ! abnormal kidney epithelium morphology created_by: csmith creation_date: 2011-04-14T01:42:38Z [Term] id: MP:0011066 name: abnormal renal tubule epithelial cell primary cilium morphology def: "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith, PMID:17995581] synonym: "abnormal kidney tubule epithelial cell primary cilium morphology" EXACT [] synonym: "abnormal renal tubule epithelial cell primary cilia morphology" EXACT [] is_a: MP:0009640 ! abnormal renal tubule epithelium morphology is_a: MP:0011065 ! abnormal kidney epithelial cell primary cilium morphology created_by: csmith creation_date: 2011-04-14T02:06:26Z [Term] id: MP:0011067 name: abnormal somatostatin level def: "anomaly of the blood or tissue concentration of a tetradecapeptide capable of inhibiting the release of somatotrophin by the anterior lobe of the pituitary gland and the release of insulin and gastrin from digestive system tissues" [ISBN:0-683-40008-8] synonym: "abnormal GHIH level" EXACT [] synonym: "abnormal growth hormone-inhibiting hormone level" EXACT [] synonym: "abnormal somatotrophin release-inhibiting factor level" EXACT [] synonym: "abnormal somatotrophin release-inhibiting hormone level" EXACT [] synonym: "abnormal SRIF level" RELATED [] is_a: MP:0003953 ! abnormal hormone level created_by: csmith creation_date: 2011-04-14T03:02:46Z [Term] id: MP:0011068 name: abnormal ependyma motile cilium physiology def: "any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system" [MGI:csmith] synonym: "abnormal ependyma motile cilia physiology" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology created_by: csmith creation_date: 2011-04-14T03:15:16Z [Term] id: MP:0011069 name: abnormal brain ependyma motile cilium physiology def: "any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith] synonym: "abnormal brain ependyma motile cilia physiology" RELATED [] synonym: "abnormal brain ventricle motile cilium physiology" NARROW [] is_a: MP:0011068 ! abnormal ependyma motile cilium physiology created_by: csmith creation_date: 2011-04-14T03:16:27Z [Term] id: MP:0011070 name: abnormal spinal cord motile cilium physiology def: "any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid" [MGI:csmith] synonym: "abnormal spinal cord motile cilia physiology" EXACT [] is_a: MP:0011068 ! abnormal ependyma motile cilium physiology created_by: csmith creation_date: 2011-04-14T03:17:05Z [Term] id: MP:0011071 name: absent Clara cells def: "absence of the rounded, club-shaped, nonciliated cells found between ciliated cells in the bronchiolar epithelium" [MGI:anna] synonym: "absent bronchiolar exocrine cells" EXACT [] is_a: MP:0010949 ! decreased Clara cell number created_by: csmith creation_date: 2011-04-15T02:00:35Z [Term] id: MP:0011072 name: abnormal macrophage cytokine production def: "any anomaly in the appearance of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [GO:0010934] is_a: MP:0002451 ! abnormal macrophage physiology created_by: csmith creation_date: 2011-04-15T02:56:24Z [Term] id: MP:0011073 name: abnormal macrophage apoptosis def: "excessive or absent cell death in macrophages" [ISBN:0-683-40008-8] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002451 ! abnormal macrophage physiology created_by: csmith creation_date: 2011-04-15T02:58:41Z [Term] id: MP:0011074 name: abnormal macrophage nitric oxide production def: "any anomaly in the appearance of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [MGI:csmith] synonym: "abnormal macrophage NO production" EXACT [] is_a: MP:0002451 ! abnormal macrophage physiology is_a: MP:0003957 ! abnormal nitric oxide homeostasis created_by: csmith creation_date: 2011-04-15T03:08:25Z [Term] id: MP:0011075 name: abnormal macrophage activation involved in immune response def: "anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response" [GO:0002281] is_a: MP:0002451 ! abnormal macrophage physiology created_by: csmith creation_date: 2011-04-15T03:11:40Z [Term] id: MP:0011076 name: increased macrophage nitric oxide production def: "greater production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [MGI:csmith] synonym: "increased macrophage NO production" EXACT [] is_a: MP:0011074 ! abnormal macrophage nitric oxide production created_by: csmith creation_date: 2011-04-15T03:18:03Z [Term] id: MP:0011077 name: decreased macrophage nitric oxide production def: "reduced production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [MGI:csmith] synonym: "decreased macrophage NO production" EXACT [] synonym: "reduced macrophage nitric oxide production" EXACT [] synonym: "reduced macrophage NO production" EXACT [] is_a: MP:0011074 ! abnormal macrophage nitric oxide production created_by: csmith creation_date: 2011-04-15T03:18:03Z [Term] id: MP:0011078 name: increased macrophage cytokine production def: "greater production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [MGI:csmith] is_a: MP:0011072 ! abnormal macrophage cytokine production created_by: csmith creation_date: 2011-04-15T03:20:18Z [Term] id: MP:0011079 name: decreased macrophage cytokine production def: "reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [MGI:csmith] is_a: MP:0011072 ! abnormal macrophage cytokine production created_by: csmith creation_date: 2011-04-15T03:20:37Z [Term] id: MP:0011080 name: increased macrophage apoptosis def: "greater incidence of cell death in macrophages" [MGI:csmith] is_a: MP:0006042 ! increased apoptosis is_a: MP:0011073 ! abnormal macrophage apoptosis created_by: csmith creation_date: 2011-04-15T03:22:52Z [Term] id: MP:0011081 name: decreased macrophage apoptosis def: "reduced incidence of cell death in macrophages" [MGI:csmith] synonym: "reduced macrophage apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0011073 ! abnormal macrophage apoptosis created_by: csmith creation_date: 2011-04-15T03:22:52Z [Term] id: MP:0011082 name: abnormal gastrointestinal motility def: "anomaly in the propulsive movements of the digestive system, resulting in the transit of the contents along the gastrointestinal tract" [MGI:csmith] is_a: MP:0001663 ! abnormal digestive system physiology created_by: csmith creation_date: 2011-04-15T03:48:24Z [Term] id: MP:0011083 name: complete lethality at weaning def: "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith] is_a: MP:0008569 ! lethality at weaning created_by: csmith creation_date: 2011-04-26T09:13:15Z [Term] id: MP:0011084 name: partial lethality at weaning def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith] is_a: MP:0008569 ! lethality at weaning created_by: csmith creation_date: 2011-04-26T09:13:38Z [Term] id: MP:0011085 name: complete postnatal lethality def: "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith] subset: Sanger_Terms is_a: MP:0002082 ! postnatal lethality created_by: csmith creation_date: 2011-04-26T09:16:20Z [Term] id: MP:0011086 name: partial postnatal lethality def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith] subset: Sanger_Terms is_a: MP:0002082 ! postnatal lethality created_by: csmith creation_date: 2011-04-26T09:16:36Z [Term] id: MP:0011087 name: complete neonatal lethality def: "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith] is_a: MP:0002058 ! neonatal lethality created_by: csmith creation_date: 2011-04-26T09:39:34Z [Term] id: MP:0011088 name: partial neonatal lethality def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith] is_a: MP:0002058 ! neonatal lethality created_by: csmith creation_date: 2011-04-26T09:39:34Z [Term] id: MP:0011089 name: complete perinatal lethality def: "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith] is_a: MP:0002081 ! perinatal lethality created_by: csmith creation_date: 2011-04-26T09:39:34Z [Term] id: MP:0011090 name: partial perinatal lethality def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith] is_a: MP:0002081 ! perinatal lethality created_by: csmith creation_date: 2011-04-26T09:39:34Z [Term] id: MP:0011091 name: complete prenatal lethality def: "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith] is_a: MP:0002080 ! prenatal lethality created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011092 name: complete embryonic lethality def: "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith] is_a: MP:0008762 ! embryonic lethality created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011093 name: complete embryonic lethality at implantation def: "death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)" [MGI:csmith] is_a: MP:0008527 ! embryonic lethality at implantation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011094 name: complete embryonic lethality before implantation def: "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith] is_a: MP:0006204 ! embryonic lethality before implantation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011095 name: complete embryonic lethality between implantation and placentation def: "death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)" [MGI:csmith] is_a: MP:0009850 ! embryonic lethality between implantation and placentation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011096 name: complete embryonic lethality between implantation and somite formation def: "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith] synonym: "complete embryonic lethality before somite formation" RELATED [] is_a: MP:0006205 ! embryonic lethality between implantation and somite formation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011097 name: complete embryonic lethality between somite formation and embryo turning def: "death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:csmith] synonym: "complete embryonic lethality before turning of embryo" RELATED [] is_a: MP:0006206 ! embryonic lethality between somite formation and embryo turning created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011098 name: complete embryonic lethality during organogenesis def: "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith] is_a: MP:0006207 ! embryonic lethality during organogenesis created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011099 name: complete lethality throughout fetal growth and development def: "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith] is_a: MP:0006208 ! lethality throughout fetal growth and development created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011100 name: complete preweaning lethality def: "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith] is_a: MP:0010770 ! preweaning lethality created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011101 name: partial prenatal lethality def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith] is_a: MP:0002080 ! prenatal lethality created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011102 name: partial embryonic lethality def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith] is_a: MP:0008762 ! embryonic lethality created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011103 name: partial embryonic lethality at implantation def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5)" [MGI:csmith] is_a: MP:0008527 ! embryonic lethality at implantation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011104 name: partial embryonic lethality before implantation def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith] is_a: MP:0006204 ! embryonic lethality before implantation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011105 name: partial embryonic lethality between implantation and placentation def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)" [MGI:csmith] is_a: MP:0009850 ! embryonic lethality between implantation and placentation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011106 name: partial embryonic lethality between implantation and somite formation def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith] synonym: "partial embryonic lethality before somite formation" RELATED [] is_a: MP:0006205 ! embryonic lethality between implantation and somite formation created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011107 name: partial embryonic lethality between somite formation and embryo turning def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:csmith] synonym: "partial embryonic lethality before turning of embryo" RELATED [] is_a: MP:0006206 ! embryonic lethality between somite formation and embryo turning created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011108 name: partial embryonic lethality during organogenesis def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith] is_a: MP:0006207 ! embryonic lethality during organogenesis created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011109 name: partial lethality throughout fetal growth and development def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith] is_a: MP:0006208 ! lethality throughout fetal growth and development created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011110 name: partial preweaning lethality def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith] is_a: MP:0010770 ! preweaning lethality created_by: csmith creation_date: 2011-04-26T03:56:08Z [Term] id: MP:0011111 name: complete lethality during fetal growth through weaning def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)" [MGI:csmith] is_a: MP:0010832 ! lethality during fetal growth through weaning created_by: csmith creation_date: 2011-04-26T03:57:54Z [Term] id: MP:0011112 name: partial lethality during fetal growth through weaning def: "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)" [MGI:csmith] is_a: MP:0010832 ! lethality during fetal growth through weaning created_by: csmith creation_date: 2011-04-26T03:57:54Z [Term] id: MP:0011113 name: abnormal airway basal cell morphology def: "any structural anomaly of a long-lived multipotent stem cell of the pseudostratified airway epithelium which is restricted to the tracheal epithelium in mice; airway BCs have been shown to be capable of self renewal, give rise to secretory (Clara) cells and ciliated cells, and play important roles both in epithelial homeostasis and in pathological airway remodeling" [MGI:anna, PMID:20699479] is_a: MP:0010942 ! abnormal respiratory epithelium morphology created_by: csmith creation_date: 2011-05-11T04:13:01Z [Term] id: MP:0011114 name: abnormal airway basal cell differentiation def: "abnormal or arrest of differentiation of the long-lived multipotent stem cell population of the pseudostratified airway epithelium; changes in the lineage choice of BCs or their undifferentiated daughters might contribute to the mucous cell hyperplasia, metaplasia or squamous metaplasia seen in many respiratory disorders" [MGI:anna, PMID:17909629] is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0011113 ! abnormal airway basal cell morphology created_by: csmith creation_date: 2011-05-11T04:19:42Z [Term] id: MP:0011115 name: airway basal cell hyperplasia def: "increased number of the long-lived multipotent stem cells of the pseudostratified airway epithelium" [MGI:anna] synonym: "increased airway basal cell number" EXACT [] is_a: MP:0011113 ! abnormal airway basal cell morphology created_by: csmith creation_date: 2011-05-11T04:19:42Z [Term] id: MP:0011116 name: absent Reichert's membrane def: "absence of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal endoderm; normally required for the maternofetal exchange of nutrients and important for postgastrulation development" [MGI:anna] is_a: MP:0003954 ! abnormal Reichert's membrane morphology created_by: csmith creation_date: 2011-05-11T04:24:38Z [Term] id: MP:0011117 name: abnormal susceptibility to weight gain def: "anomaly in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake" [MGI:csmith] is_a: MP:0001259 ! abnormal body weight created_by: csmith creation_date: 2011-05-20T11:20:20Z [Term] id: MP:0011118 name: abnormal susceptibility to weight loss def: "anomaly in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction" [MGI:csmith] is_a: MP:0001259 ! abnormal body weight created_by: csmith creation_date: 2011-05-20T11:21:59Z [Term] id: MP:0011119 name: abnormal primordial ovarian follicle number def: "abnormal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles" [MGI:csmith] is_a: MP:0008871 ! abnormal ovarian follicle number is_a: MP:0009361 ! abnormal primordial ovarian follicle morphology created_by: csmith creation_date: 2011-05-20T11:35:03Z [Term] id: MP:0011120 name: increased primordial ovarian follicle number def: "greater than normal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles" [MGI:csmith] is_a: MP:0011119 ! abnormal primordial ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:35:03Z [Term] id: MP:0011121 name: decreased primordial ovarian follicle number def: "fewer than normal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles" [MGI:csmith] is_a: MP:0011119 ! abnormal primordial ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:35:03Z [Term] id: MP:0011122 name: absent primordial ovarian follicles def: "absence of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles" [MGI:csmith] is_a: MP:0011121 ! decreased primordial ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:35:03Z [Term] id: MP:0011123 name: abnormal primary ovarian follicle number def: "abnormal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:csmith] is_a: MP:0008871 ! abnormal ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:37:49Z [Term] id: MP:0011124 name: increased primary ovarian follicle number def: "greater than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:csmith] is_a: MP:0011123 ! abnormal primary ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:37:49Z [Term] id: MP:0011125 name: decreased primary ovarian follicle number def: "fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:csmith] is_a: MP:0011123 ! abnormal primary ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:37:49Z [Term] id: MP:0011126 name: absent primary ovarian follicles def: "absence of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:csmith] is_a: MP:0011125 ! decreased primary ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:37:49Z [Term] id: MP:0011127 name: abnormal secondary ovarian follicle number def: "abnormal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:csmith] synonym: "abnormal antral follicle number" EXACT [] synonym: "abnormal folliculus ovaricus vesiculosus number" EXACT [] synonym: "abnormal Graafian follicle number" EXACT [] synonym: "abnormal vesicular follicle number" EXACT [] synonym: "abnormal vesicular ovarian follicle number" EXACT [] is_a: MP:0008871 ! abnormal ovarian follicle number is_a: MP:0009363 ! abnormal secondary ovarian follicle morphology created_by: csmith creation_date: 2011-05-20T11:39:46Z [Term] id: MP:0011128 name: increased secondary ovarian follicle number def: "greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:csmith] synonym: "increased antral follicle number" EXACT [] synonym: "increased folliculus ovaricus vesiculosus number" EXACT [] synonym: "increased Graafian follicle number" EXACT [] synonym: "increased vesicular follicle number" EXACT [] synonym: "increased vesicular ovarian follicle number" EXACT [] is_a: MP:0011127 ! abnormal secondary ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:39:46Z [Term] id: MP:0011129 name: decreased secondary ovarian follicle number def: "fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:csmith] synonym: "decreased antral follicle number" EXACT [] synonym: "decreased folliculus ovaricus vesiculosus number" EXACT [] synonym: "decreased Graafian follicle number" EXACT [] synonym: "decreased vesicular follicle number" EXACT [] synonym: "decreased vesicular ovarian follicle number" EXACT [] synonym: "reduced antral follicle number" EXACT [] synonym: "reduced folliculus ovaricus vesiculosus number" EXACT [] synonym: "reduced Graafian follicle number" EXACT [] synonym: "reduced secondary ovarian follicle number" EXACT [] synonym: "reduced vesicular follicle number" EXACT [] synonym: "reduced vesicular ovarian follicle number" EXACT [] is_a: MP:0011127 ! abnormal secondary ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:39:46Z [Term] id: MP:0011130 name: absent secondary ovarian follicles def: "absence of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:csmith] is_a: MP:0011129 ! decreased secondary ovarian follicle number created_by: csmith creation_date: 2011-05-20T11:39:46Z [Term] id: MP:0011131 name: abnormal lung endothelial cell physiology def: "any functional anomaly of the squamous cells forming the lining of the pulmonary vasculature" [MGI:csmith] synonym: "abnormal lung microvascular endothelial cell physiology" EXACT [] synonym: "abnormal pulmonary endothelial cell physiology" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology created_by: csmith creation_date: 2011-05-20T02:03:47Z [Term] id: MP:0011132 name: abnormal lung endothelial cell migration def: "anomaly in the movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature" [MGI:csmith] synonym: "abnormal lung microvascular endothelial cell migration" EXACT [] synonym: "abnormal pulmonary endothelial cell migration" EXACT [] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0011131 ! abnormal lung endothelial cell physiology created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011133 name: increased lung endothelial cell migration def: "increased or faster movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature" [MGI:csmith] synonym: "increased lung microvascular endothelial cell migration" EXACT [] synonym: "increased pulmonary endothelial cell migration" EXACT [] is_a: MP:0011132 ! abnormal lung endothelial cell migration created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011134 name: decreased lung endothelial cell migration def: "reduced or slower movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature" [MGI:csmith] synonym: "decreased lung microvascular endothelial cell migration" EXACT [] synonym: "decreased pulmonary endothelial cell migration" EXACT [] synonym: "reduced lung microvascular endothelial cell migration" EXACT [] synonym: "reduced pulmonary endothelial cell migration" EXACT [] is_a: MP:0011132 ! abnormal lung endothelial cell migration created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011135 name: abnormal lung endothelial cell adhesion def: "altered ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment" [MGI:csmith] synonym: "abnormal lung microvascular endothelial cell adhesion" EXACT [] synonym: "abnormal pulmonary endothelial cell adhesion" EXACT [] is_a: MP:0003566 ! abnormal cell adhesion is_a: MP:0011131 ! abnormal lung endothelial cell physiology created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011136 name: increased lung endothelial cell adhesion def: "increased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment" [MGI:csmith] synonym: "increased lung microvascular endothelial cell adhesion" EXACT [] synonym: "increased pulmonary endothelial cell adhesion" EXACT [] is_a: MP:0011135 ! abnormal lung endothelial cell adhesion created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011137 name: decreased lung endothelial cell adhesion def: "decreased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment" [MGI:csmith] synonym: "decreased lung microvascular endothelial cell adhesion" EXACT [] synonym: "decreased pulmonary endothelial cell adhesion" EXACT [] synonym: "reduced lung microvascular endothelial cell adhesion" EXACT [] synonym: "reduced pulmonary endothelial cell adhesion" EXACT [] is_a: MP:0011135 ! abnormal lung endothelial cell adhesion created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011138 name: abnormal lung endothelial cell proliferation def: "altered ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division" [MGI:csmith] synonym: "abnormal lung microvascular endothelial cell proliferation" EXACT [] synonym: "abnormal pulmonary endothelial cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0011131 ! abnormal lung endothelial cell physiology created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011139 name: increased lung endothelial cell proliferation def: "greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division" [MGI:csmith] synonym: "increased lung microvascular endothelial cell proliferation" EXACT [] synonym: "increased pulmonary endothelial cell proliferation" EXACT [] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0011138 ! abnormal lung endothelial cell proliferation created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011140 name: decreased lung endothelial cell proliferation def: "reduced ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division" [MGI:csmith] synonym: "decreased lung microvascular endothelial cell proliferation" EXACT [] synonym: "decreased pulmonary endothelial cell proliferation" EXACT [] synonym: "reduced lung microvascular endothelial cell proliferation" EXACT [] synonym: "reduced pulmonary endothelial cell proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0011138 ! abnormal lung endothelial cell proliferation created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011141 name: increased lung endothelial cell apoptosis def: "acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature to undergoing programmed cell death" [MGI:csmith] synonym: "abnormal lung microvascular endothelial cell apoptosis" EXACT [] synonym: "abnormal pulmonary endothelial cell apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0011131 ! abnormal lung endothelial cell physiology created_by: csmith creation_date: 2011-05-20T02:06:38Z [Term] id: MP:0011142 name: abnormal lung-associated mesenchyme development def: "abnormality in the formation of the lung tissue comprised of multiple cell types (including connective tissue, endothelial cells, lymphatics, smooth muscle cells surrounding airways and blood vessels, myofibroblasts involved in septum formation, and cartilage-forming cells in the trachea), with most cells thought to be derived from the splanchnic mesenchyme, and other cells (endothelial, smooth muscle) believed to invade the lung as it expands; lung mesenchyme is a critical determinant of the shape and size of the developing lung, the extent and patterning of epithelial branching, and the formation of the pulmonary vasculature and interstitial mesenchymal components of the adult lung" [MGI:anna, PMID:18533146, PMID:20048339] synonym: "abnormal lung mesenchyme development" EXACT [] synonym: "abnormal pulmonary mesenchyme development" EXACT [] is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011143 name: thick lung-associated mesenchyme def: "increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development" [MGI:anna] synonym: "expanded lung mesenchyme" EXACT [] synonym: "thick pulmonary mesenchyme" EXACT [] synonym: "thickened lung mesenchyme" EXACT [] is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011144 name: thin lung-associated mesenchyme def: "decreased thickness of the mesenchymal cell layer in the developing lung" [MGI:anna] synonym: "reduced lung mesenchyme" EXACT [] synonym: "thin pulmonary mesenchyme" EXACT [] synonym: "thinned lung mesenchyme" EXACT [] is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011145 name: abnormal mesenchymal cell differentiation involved in lung development def: "abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung" [MGI:anna] synonym: "abnormal lung mesenchymal cell differentiation" EXACT [] synonym: "abnormal pulmonary mesenchymal cell differentiation" EXACT [] is_a: MP:0001176 ! abnormal lung development is_a: MP:0005076 ! abnormal cell differentiation created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011146 name: abnormal mesenchymal cell proliferation involved in lung development def: "anomaly in the ability of the differentiating lung mesenchymal cell population to undergo expansion by cell division in the developing lung" [MGI:anna] synonym: "abnormal lung mesenchymal cell proliferation" EXACT [] synonym: "abnormal pulmonary mesenchymal cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0001176 ! abnormal lung development created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011147 name: increased mesenchymal cell proliferation involved in lung development def: "increase in the expansion rate of a lung mesenchymal cell population by cell division" [MGI:anna] synonym: "increased lung mesenchymal cell proliferation" EXACT [] synonym: "increased pulmonary mesenchymal cell proliferation" EXACT [] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0011146 ! abnormal mesenchymal cell proliferation involved in lung development created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011148 name: decreased mesenchymal cell proliferation involved in lung development def: "reduction in the expansion rate of a lung mesenchymal cell population by cell division" [MGI:anna] synonym: "decreased lung mesenchymal cell proliferation" EXACT [] synonym: "decreased pulmonary mesenchymal cell proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0011146 ! abnormal mesenchymal cell proliferation involved in lung development created_by: csmith creation_date: 2011-05-20T04:11:17Z [Term] id: MP:0011149 name: abnormal hippocampus stratum lacunosum morphology is_a: MP:0000813 ! abnormal hippocampus layer morphology created_by: csmith creation_date: 2011-05-23T03:29:51Z [Term] id: MP:0011150 name: abnormal hippocampus stratum oriens morphology is_a: MP:0000813 ! abnormal hippocampus layer morphology created_by: csmith creation_date: 2011-05-23T03:29:51Z [Term] id: MP:0011151 name: abnormal hippocampus stratum radiatum morphology is_a: MP:0000813 ! abnormal hippocampus layer morphology created_by: csmith creation_date: 2011-05-23T03:29:51Z [Term] id: MP:0011152 name: thick hippocampus molecular cell layer is_a: MP:0008286 ! abnormal hippocampus molecular cell layer created_by: csmith creation_date: 2011-05-23T03:29:51Z [Term] id: MP:0011153 name: thick hippocampus stratum oriens subset: Sanger_Terms is_a: MP:0011150 ! abnormal hippocampus stratum oriens morphology created_by: csmith creation_date: 2011-05-23T03:29:51Z [Term] id: MP:0011154 name: thick hippocampus stratum radiatum subset: Sanger_Terms is_a: MP:0011151 ! abnormal hippocampus stratum radiatum morphology created_by: csmith creation_date: 2011-05-23T03:29:51Z [Term] id: MP:0011155 name: absent hippocampus stratum oriens is_a: MP:0011150 ! abnormal hippocampus stratum oriens morphology created_by: csmith creation_date: 2011-05-23T03:30:16Z [Term] id: MP:0011156 name: abnormal hypodermis fat layer morphology def: "any structural anomaly of the superficial portion of the subcutaneous tissue which is specialized for fat storage" [ISBN:0-683-40008-8] subset: Sanger_Terms synonym: "abnormal hypodermal fat layer morphology" EXACT [] synonym: "abnormal panniculus adiposus morphology" EXACT [] synonym: "abnormal subcutaneous fat layer morphology" EXACT [] is_a: MP:0002970 ! abnormal white adipose tissue morphology is_a: MP:0003705 ! abnormal hypodermis morphology created_by: csmith creation_date: 2011-05-23T03:52:15Z [Term] id: MP:0011157 name: abnormal hypodermis muscle layer morphology def: "any structural anomaly of the skeletal muscle layer in the superficial fascia" [ISBN:0-683-40008-8] synonym: "abnormal hypodermal muscle layer morphology" EXACT [] synonym: "abnormal panniculus carnosus morphology" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0003705 ! abnormal hypodermis morphology created_by: csmith creation_date: 2011-05-23T03:53:01Z [Term] id: MP:0011158 name: absent hypodermis muscle layer def: "absence of the skeletal muscle layer in the superficial fascia" [ISBN:0-683-40008-8] synonym: "absent hypodermal muscle layer" EXACT [] synonym: "absent panniculus carnosus" RELATED [] is_a: MP:0011157 ! abnormal hypodermis muscle layer morphology created_by: csmith creation_date: 2011-05-23T03:53:40Z [Term] id: MP:0011159 name: abnormal epidermal-dermal junction morphology def: "any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction" [PMID:1097542] synonym: "abnormal DEJ morphology" EXACT [] synonym: "abnormal dermal-epidermal junction morphology" EXACT [] synonym: "abnormal dermo-epidermal junction morphology" EXACT [] synonym: "abnormal EDJ morphology" EXACT [] xref: FMA:70963 is_a: MP:0002060 ! abnormal skin morphology created_by: csmith creation_date: 2011-05-25T03:52:09Z [Term] id: MP:0011160 name: dermal-epidermal separation def: "the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis" [MGI:csmith] is_a: MP:0011159 ! abnormal epidermal-dermal junction morphology created_by: csmith creation_date: 2011-05-25T04:10:23Z [Term] id: MP:0011161 name: increased hypodermis neovascularization def: "new or excessive vessel proliferation in the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia" [ISBN:0-683-40008-8, MGI:csmith] synonym: "hypodermal neovascularization" EXACT [] is_a: MP:0003705 ! abnormal hypodermis morphology is_a: MP:0003711 ! pathological neovascularization created_by: csmith creation_date: 2011-05-26T12:12:39Z [Term] id: MP:0011162 name: abnormal wet-to-dry lung weight ratio def: "any deviation from the standard ratio, calculated by dividing the wet lung weight (measured immediately after lung excision) to the oven-dried lung weight, compared to control samples; may be used as an index of extravascular fluid accumulation (pulmonary edema) and/or tissue damage after lung injury" [MGI:anna] is_a: MP:0005629 ! abnormal lung weight created_by: csmith creation_date: 2011-05-26T12:57:37Z [Term] id: MP:0011163 name: increased wet-to-dry lung weight ratio def: "an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury" [MGI:anna] synonym: "increased wet lung weight" EXACT [] is_a: MP:0011162 ! abnormal wet-to-dry lung weight ratio created_by: csmith creation_date: 2011-05-26T12:58:04Z [Term] id: MP:0011164 name: panniculitis def: "inflammation of the subcutaneous adipose tissue" [ISBN:0-683-40008-8] synonym: "hypodermal fat layer inflammation" EXACT [] synonym: "panniculus adiposus inflammation" EXACT [] synonym: "subcutaneous adipose tissue inflammation" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0010680 ! abnormal skin adnexa physiology created_by: csmith creation_date: 2011-05-26T01:25:38Z [Term] id: MP:0011165 name: abnormal tooth root development def: "aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone" [MGI:anna] is_a: MP:0000116 ! abnormal tooth development created_by: csmith creation_date: 2011-05-26T03:04:20Z [Term] id: MP:0011166 name: absent molar root def: "absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively" [MGI:anna] is_a: MP:0011165 ! abnormal tooth root development created_by: csmith creation_date: 2011-05-26T03:04:51Z [Term] id: MP:0011167 name: abnormal adipose tissue development def: "anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue" [MESH:A10.165.114, MGI:csmith] synonym: "abnormal adipogenesis" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology created_by: csmith creation_date: 2011-06-07T03:18:55Z [Term] id: MP:0011168 name: abnormal fat cell differentiation def: "abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449, MGI:csmith] synonym: "abnormal adipocyte differentiation" EXACT [] synonym: "abnormal adipogenesis" RELATED [] synonym: "abnormal lipocyte differentiation" EXACT [] is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0009115 ! abnormal fat cell morphology created_by: csmith creation_date: 2011-06-07T03:18:55Z [Term] id: MP:0011169 name: abnormal white fat cell differentation def: "abnormal or arrest of differentiation of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole" [MESH:A11.329.114.500, MGI:csmith] synonym: "abnormal white adipocyte differentiation" EXACT [] synonym: "abnormal white lipocyte differentiation" EXACT [] is_a: MP:0009117 ! abnormal white fat cell morphology is_a: MP:0011168 ! abnormal fat cell differentiation created_by: csmith creation_date: 2011-06-07T03:18:55Z [Term] id: MP:0011170 name: abnormal brown fat cell differentiation def: "abnormal or arrest of differentiation of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals" [CL:0000449, MGI:csmith] synonym: "abnormal brown adipocyte differentiation" EXACT [] synonym: "abnormal brown lipocyte differentiation" EXACT [] is_a: MP:0009116 ! abnormal brown fat cell morphology is_a: MP:0011168 ! abnormal fat cell differentiation created_by: csmith creation_date: 2011-06-07T03:18:55Z [Term] id: MP:0011171 name: increased number of Heinz bodies def: "presence of intracellular inclusions usually attached to the red blood cell membrane, resulting from oxidative injury to and precipitation of hemoglobin in red blood cells" [http://www.dorlands.com/] is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2011-06-08T01:56:22Z [Term] id: MP:0011172 name: abnormal otic pit morphology def: "any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles" [ISBN:0-683-40008-8] synonym: "abnormal auditory pit morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development is_a: MP:0003938 ! abnormal ear development created_by: csmith creation_date: 2011-06-13T10:53:23Z [Term] id: MP:0011173 name: abnormal otic placode morphology def: "any structural anomaly of two paired thickened areas of ectoderm close to the hindbrain from which the vestibular system and the auditory system develops; the otic placode invaginates into the mesenchyme adjacent to the rhombencephalon to form the otic pit" [PMID:9507049] synonym: "abnormal auditory placode morphology" EXACT [] is_a: MP:0003935 ! abnormal craniofacial development is_a: MP:0003938 ! abnormal ear development created_by: csmith creation_date: 2011-06-13T10:53:50Z [Term] id: MP:0011174 name: lipodystrophy def: "abnormal or degenerative conditions of the body's adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized" [MGI:csmith] is_a: MP:0010025 ! decreased total body fat amount created_by: csmith creation_date: 2011-06-14T10:40:49Z [Term] id: MP:0011175 name: platyspondylia def: "flatness of the bodies of the vertebrae; one or many vertebrae may be affected" [ISBN:0-683-40008-8] synonym: "flat vertebral bodies" EXACT [] synonym: "flattened vertebrae" EXACT [] synonym: "flattened vertebral bodies" EXACT [] synonym: "platyspondylisis" EXACT [] synonym: "platyspondyly" EXACT [] is_a: MP:0000141 ! abnormal vertebral body morphology created_by: csmith creation_date: 2011-06-20T11:42:26Z [Term] id: MP:0011176 name: abnormal erythroblast morphology def: "any structural anomaly of the nucleated precursor of erythrocytes" [ISBN:0-683-40008-8] comment: In human, these cells are normally found exclusively in the bone marrow. In other species such as rodents, they may be found in liver and/or spleen. synonym: "abnormal normoblast morphology" RELATED [] is_a: MP:0002416 ! abnormal proerythroblast morphology created_by: csmith creation_date: 2011-06-20T12:36:38Z [Term] id: MP:0011177 name: abnormal erythroblast number def: "altered number of the nucleated precursor of erythrocytes" [MGI:csmith] synonym: "abnormal normoblast number" RELATED [] is_a: MP:0011176 ! abnormal erythroblast morphology created_by: csmith creation_date: 2011-06-20T12:37:30Z [Term] id: MP:0011178 name: increased erythroblast number def: "greater number of the nucleated precursor of erythrocytes" [MGI:csmith] synonym: "increased normoblast number" RELATED [] is_a: MP:0011177 ! abnormal erythroblast number created_by: csmith creation_date: 2011-06-20T12:37:30Z [Term] id: MP:0011179 name: decreased erythroblast number def: "reduced number of the nucleated precursor of erythrocytes" [MGI:csmith] synonym: "decreased normoblast number" RELATED [] synonym: "reduced erythroblast number" EXACT [] synonym: "reduced normoblast number" RELATED [] is_a: MP:0011177 ! abnormal erythroblast number created_by: csmith creation_date: 2011-06-20T12:37:30Z [Term] id: MP:0011180 name: abnormal hematopoietic cell number def: "any anomaly in the expected number of cells of the hematopoietic lineage" [CL:0000988, MGI:csmith] is_a: MP:0002123 ! abnormal hematopoiesis created_by: csmith creation_date: 2011-06-20T01:20:15Z [Term] id: MP:0011181 name: increased hematopoietic cell number def: "greater than expected number of cells of the hematopoietic lineage" [MGI:csmith] is_a: MP:0011180 ! abnormal hematopoietic cell number created_by: csmith creation_date: 2011-06-20T01:20:15Z [Term] id: MP:0011182 name: decreased hematopoietic cell number def: "fewer than expected number of cells of the hematopoietic lineage" [MGI:csmith] is_a: MP:0011180 ! abnormal hematopoietic cell number created_by: csmith creation_date: 2011-06-20T01:20:15Z [Term] id: MP:0011183 name: abnormal primitive endoderm morphology def: "any structural anomaly of the monolayer of cells derived from and located on the surface of inner cell mass, directly facing the blastocoele, and is separated from the more centrally located epiblast by basal lamina; the primitive endoderm give rises to the visceral endoderm and the parietal endoderm" [PMID:21123814] synonym: "abnormal hypoblast morphology" RELATED [] synonym: "abnormal PE morphology" EXACT [] synonym: "abnormal PrE morphology" EXACT [] synonym: "abnormal primary endoderm morphology" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development created_by: csmith creation_date: 2011-06-20T02:15:10Z [Term] id: MP:0011184 name: absent embryonic epiblast def: "absence of the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814] synonym: "absent ectoblast" EXACT [] synonym: "absent embryonic ectoderm" EXACT [] synonym: "absent EPI" EXACT [] synonym: "absent primary ectoderm" EXACT [] synonym: "absent primitive ectoderm" EXACT [] is_a: MP:0003886 ! abnormal embryonic epiblast morphology created_by: csmith creation_date: 2011-06-20T02:23:11Z [Term] id: MP:0011185 name: absent primitive endoderm def: "absence of the monolayer of cells derived from and located on the surface of inner cell mass, directly facing the blastocoele, and is separated from the more centrally located epiblast by basal lamina; the primitive endoderm give rises to the visceral endoderm and the parietal endoderm" [PMID:21123814] synonym: "absent hypoblast" EXACT [] synonym: "absent PE" EXACT [] synonym: "absent PrE" EXACT [] synonym: "absent primary endoderm" EXACT [] is_a: MP:0011183 ! abnormal primitive endoderm morphology created_by: csmith creation_date: 2011-06-20T02:36:57Z [Term] id: MP:0011186 name: abnormal visceral endoderm morphology def: "any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut" [PMID:21123814] synonym: "abnormal VE morphology" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development created_by: csmith creation_date: 2011-06-20T02:39:29Z [Term] id: MP:0011187 name: abnormal parietal endoderm morphology def: "any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm" [PMID:19201946] synonym: "abnormal distal endoderm morphology" EXACT [] synonym: "abnormal PaE morphology" EXACT [] synonym: "abnormal ParE morphology" EXACT [] is_a: MP:0001672 ! abnormal embryogenesis/ development is_a: MP:0011203 ! abnormal parietal yolk sac morphology created_by: csmith creation_date: 2011-06-20T02:39:48Z [Term] id: MP:0011188 name: increased erythrocyte protoporphyrin level def: "an accumulation of the intermediates of heme biosynthesis in red blood cells" [MGI:csmith] is_a: MP:0002447 ! abnormal erythrocyte morphology is_a: MP:0004147 ! increased porphyrin level created_by: csmith creation_date: 2011-06-21T03:15:34Z [Term] id: MP:0011189 name: small embryonic epiblast def: "reduced size of the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814] synonym: "reduced epiblast size" EXACT [] synonym: "small ectoblast" EXACT [] synonym: "small embryonic ectoderm" EXACT [] synonym: "small EPI" EXACT [] synonym: "small primary ectoderm" EXACT [] synonym: "small primitive ectoderm" EXACT [] is_a: MP:0003886 ! abnormal embryonic epiblast morphology created_by: csmith creation_date: 2011-06-22T01:26:36Z [Term] id: MP:0011190 name: thick embryonic epiblast def: "increased thickness of the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814] synonym: "thick ectoblast" EXACT [] synonym: "thick embryonic ectoderm" EXACT [] synonym: "thick EPI" EXACT [] synonym: "thick primary ectoderm" EXACT [] synonym: "thick primitive ectoderm" EXACT [] is_a: MP:0003886 ! abnormal embryonic epiblast morphology created_by: csmith creation_date: 2011-06-22T01:26:36Z [Term] id: MP:0011191 name: increased embryonic epiblast cell apoptosis def: "increase in the number of embryonic epiblast cells undergoing programmed cell death" [MGI:anna] is_a: MP:0003886 ! abnormal embryonic epiblast morphology is_a: MP:0006042 ! increased apoptosis created_by: csmith creation_date: 2011-06-22T01:26:36Z [Term] id: MP:0011192 name: decreased embryonic epiblast cell proliferation def: "reduction in the expansion rate of the embryonic epiblast cells by cell division" [MGI:anna] synonym: "reduced epiblast cell proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0003886 ! abnormal embryonic epiblast morphology created_by: csmith creation_date: 2011-06-22T01:26:36Z [Term] id: MP:0011193 name: embryonic epiblast cell degeneration def: "a retrogressive impairment of function or destruction of the cells comprising the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814] is_a: MP:0003886 ! abnormal embryonic epiblast morphology created_by: csmith creation_date: 2011-06-22T01:26:36Z [Term] id: MP:0011194 name: abnormal hair follicle physiology def: "any functional anomaly of the invagination of the epidermis from which the hair shaft develops" [MESH:A10.272.497.500, MGI:mnk] is_a: MP:0010680 ! abnormal skin adnexa physiology created_by: csmith creation_date: 2011-06-22T03:41:46Z [Term] id: MP:0011195 name: increased hair follicle apoptosis def: "greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops" [MGI:mnk] is_a: MP:0006042 ! increased apoptosis is_a: MP:0011194 ! abnormal hair follicle physiology created_by: csmith creation_date: 2011-06-22T03:43:17Z [Term] id: MP:0011196 name: decreased hair follicle apoptosis def: "reduced from expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops" [MGI:mnk] synonym: "reduced hair follicle apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0011194 ! abnormal hair follicle physiology created_by: csmith creation_date: 2011-06-22T03:43:34Z [Term] id: MP:0011197 name: abnormal proamniotic cavity morphology def: "any structural anomaly of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds" [ISBN:0-12-402035-6] synonym: "abnormal epiblast cavity morphology" EXACT [] synonym: "abnormal preamniotic cavity morphology" EXACT [] synonym: "abnormal pro-amniotic cavity morphology" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2011-06-23T01:54:24Z [Term] id: MP:0011198 name: absent proamniotic cavity def: "absence of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds" [ISBN:0-12-402035-6] synonym: "absent epiblast cavity" EXACT [] synonym: "absent preamniotic cavity" EXACT [] is_a: MP:0011197 ! abnormal proamniotic cavity morphology created_by: csmith creation_date: 2011-06-23T01:56:00Z [Term] id: MP:0011199 name: abnormal amniotic cavity morphology def: "any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds" [ISBN:0-12-402035-6] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2011-06-23T01:57:08Z [Term] id: MP:0011200 name: abnormal extraembryonic coelom morphology def: "any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity" [ISBN:0-12-402035-6, ISBN-10:1405118660] comment: Note that there is a great deal of confusion in the literature regarding the term exocoelomic cavity. It is frequently and erroneously used as a synonym for primary yolk sac cavity. synonym: "abnormal exocoelom morphology" EXACT [] synonym: "abnormal exocoelomic cavity morphology" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2011-06-23T01:59:48Z [Term] id: MP:0011201 name: abnormal visceral yolk sac cavity morphology def: "any structural anomaly of the closed space containing the yolk, formed by the fusion of the edges of the embryonic epiblast (hypoblast) and later surrounded by the visceral yolk sac (hypoblast and visceral yolk sac mesoderm)" [ISBN:0-12-402035-6, PMID:21123814] synonym: "abnormal yolk sac cavity" BROAD [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2011-06-23T01:59:48Z [Term] id: MP:0011202 name: abnormal ectoplacental cavity morphology def: "any structural anomaly of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity" [ISBN:0-12-402035-6] synonym: "abnormal chorionic cavity" EXACT [] synonym: "abnormal epamniotic cavity" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2011-06-23T01:59:48Z [Term] id: MP:0011203 name: abnormal parietal yolk sac morphology def: "any structural anomaly of the tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity" [PMID:1150659, PMID:21123814] synonym: "abnormal primary yolk sac morphology" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology created_by: csmith creation_date: 2011-06-24T03:01:00Z [Term] id: MP:0011204 name: abnormal visceral yolk sac blood island morphology def: "any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac" [PMID:16140152] is_a: MP:0001718 ! abnormal visceral yolk sac morphology created_by: csmith creation_date: 2011-06-24T03:11:04Z [Term] id: MP:0011205 name: excessive folding of visceral yolk sac def: "the appearance of wrinkles or folds on the surface of the visceral yolk sac" [MGI:csmith, PMID:17881493] synonym: "folded visceral yolk sac" EXACT [] synonym: "ruffled visceral yolk sac" EXACT [] synonym: "visceral yolk sac ruffling" EXACT [] synonym: "wrinkled visceral yolk sac" EXACT [] is_a: MP:0001718 ! abnormal visceral yolk sac morphology created_by: csmith creation_date: 2011-06-24T03:39:13Z [Term] id: MP:0011206 name: absent visceral yolk sac def: "absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo" [ISBN10:9780123364258, PMID:21123814] is_a: MP:0001718 ! abnormal visceral yolk sac morphology created_by: csmith creation_date: 2011-06-24T03:40:33Z [Term] id: MP:0011207 name: absent ectoplacental cavity def: "absence of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity" [ISBN:0-12-402035-6] synonym: "absent chorionic cavity" EXACT [] synonym: "absent epamniotic cavity" EXACT [] is_a: MP:0011202 ! abnormal ectoplacental cavity morphology created_by: csmith creation_date: 2011-06-24T04:02:46Z [Term] id: MP:0011208 name: small proamniotic cavity def: "reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds" [ISBN:0-12-402035-6] synonym: "small epiblast cavity" EXACT [] synonym: "small preamniotic cavity" EXACT [] synonym: "small pro-amniotic cavity" EXACT [] is_a: MP:0011197 ! abnormal proamniotic cavity morphology created_by: csmith creation_date: 2011-06-24T04:03:35Z [Term] id: MP:0011209 name: absent extraembryonic coelom def: "absence of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity" [ISBN:0-12-402035-6, ISBN10:1405118660] synonym: "absent exocoelom" EXACT [] synonym: "absent exocoelomic cavity" EXACT [] is_a: MP:0011200 ! abnormal extraembryonic coelom morphology created_by: csmith creation_date: 2011-06-24T04:06:28Z [Term] id: MP:0011210 name: abnormal temporomandibular joint morphology def: "any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones" [ISBN:0-683-40008-8] synonym: "abnormal mandibular joint morphology" EXACT [] synonym: "abnormal tempero-mandibular joint morphology" EXACT [] synonym: "abnormal temporomandibular articulation morphology" EXACT [] xref: FMA:54832 xref: MA:0002899 is_a: MP:0002932 ! abnormal joint morphology created_by: csmith creation_date: 2011-06-30T02:50:39Z [Term] id: MP:0011211 name: abnormal common peroneal nerve morphology def: "any structural anomaly of a nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles" [ISBN:0-683-40008-8] synonym: "abnormal common fibular nerve morphology" EXACT [] synonym: "abnormal external popliteal nerve morphology" EXACT [] synonym: "abnormal lateral popliteal nerve morphology" EXACT [] xref: FMA:19039 xref: MA:0001169 is_a: MP:0002752 ! abnormal somatic nervous system morphology created_by: csmith creation_date: 2011-06-30T03:09:04Z [Term] id: MP:0011212 name: absent common peroneal nerve def: "absence of the nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles" [ISBN:0-683-40008-8] synonym: "absent common fibular nerve" EXACT [] synonym: "absent external popliteal nerve" EXACT [] synonym: "absent lateral popliteal nerve" EXACT [] is_a: MP:0011211 ! abnormal common peroneal nerve morphology created_by: csmith creation_date: 2011-06-30T03:25:50Z [Term] id: MP:0011213 name: abnormal brain copper level def: "an anomaly in the amount of copper present in brain tissue" [MGI:llw2] is_a: MP:0002152 ! abnormal brain morphology is_a: MP:0003952 ! abnormal copper level created_by: csmith creation_date: 2011-07-12T02:49:21Z [Term] id: MP:0011214 name: increased brain copper level def: "a greater accumulation of copper in the brain tissue compared to controls" [MGI:llw2] is_a: MP:0011213 ! abnormal brain copper level created_by: csmith creation_date: 2011-07-12T02:49:21Z [Term] id: MP:0011215 name: decreased brain copper level def: "a reduced amount of copper in the brain tissue compared to controls" [MGI:llw2] synonym: "reduced brain copper level" EXACT [] is_a: MP:0011213 ! abnormal brain copper level created_by: csmith creation_date: 2011-07-12T02:49:21Z [Term] id: MP:0011216 name: abnormal brainstem copper level def: "an anomaly in the amount of copper present in brainstem tissue" [MGI:llw2] is_a: MP:0005277 ! abnormal brainstem morphology is_a: MP:0011213 ! abnormal brain copper level created_by: csmith creation_date: 2011-07-12T02:49:21Z [Term] id: MP:0011217 name: increased brainstem copper level def: "a greater accumulation of copper in the brainstem tissue compared to controls" [MGI:llw2] is_a: MP:0011214 ! increased brain copper level is_a: MP:0011216 ! abnormal brainstem copper level created_by: csmith creation_date: 2011-07-12T02:49:21Z [Term] id: MP:0011218 name: decreased brainstem copper level def: "a reduced amount of copper in the brainstem tissue compared to controls" [MGI:llw2] synonym: "reduced brainstem copper level" EXACT [] is_a: MP:0011215 ! decreased brain copper level is_a: MP:0011216 ! abnormal brainstem copper level created_by: csmith creation_date: 2011-07-12T02:49:21Z [Term] id: MP:0011219 name: abnormal intestinal calcium absorption def: "any anomaly in the ability of the body to take up calcium into the blood by absorption from the small intestine" [MGI:csmith] is_a: MP:0001670 ! abnormal intestinal mineral absorption created_by: csmith creation_date: 2011-07-14T03:30:43Z [Term] id: MP:0011220 name: increased intestinal calcium absorption def: "augmented ability of the body to take up calcium into the blood by absorption from the small intestine" [MGI:csmith] is_a: MP:0011219 ! abnormal intestinal calcium absorption created_by: csmith creation_date: 2011-07-14T03:31:33Z [Term] id: MP:0011221 name: decreased intestinal calcium absorption def: "reduced ability of the body to take up calcium into the blood by absorption from the small intestine" [MGI:csmith] synonym: "reduced intestinal calcium absorption" EXACT [] is_a: MP:0011219 ! abnormal intestinal calcium absorption created_by: csmith creation_date: 2011-07-14T03:31:33Z [Term] id: MP:0011222 name: abnormal lymph node medullary sinus morphology def: "any structural anomaly of the channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels" [ISBN:0-683-40008-8] synonym: "abnormal lymph node medullary sinusoids morphology" EXACT [] is_a: MP:0002348 ! abnormal lymph node medulla morphology created_by: csmith creation_date: 2011-07-21T09:52:45Z [Term] id: MP:0011223 name: dilated lymph node medullary sinus def: "the luminal space of the lymph node medulla is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith] synonym: "dilated lymph node medullary sinusoids" EXACT [] is_a: MP:0011222 ! abnormal lymph node medullary sinus morphology created_by: csmith creation_date: 2011-07-21T09:54:12Z [Term] id: MP:0011224 name: abnormal lymph node medullary cord morphology def: "any structural anomaly of the dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node" [ISBN:0-683-40008-8] synonym: "abnormal lymph cords morphology" EXACT [] is_a: MP:0002348 ! abnormal lymph node medulla morphology created_by: csmith creation_date: 2011-07-21T09:54:32Z [Term] id: MP:0011225 name: lymph node medullary cord hyperplasia def: "increase in the number of normal cells in normal arrangement in the lymph node medullary cords, resulting in a thickening or enlargement of the structure, caused by stimuli including increased physiological demand, inflammatory response, hormonal changes or hormonal dysfunctions, and/or compensation due to a pathological cause elsewhere" [ISBN:0-683-40008-8, MGI:csmith] synonym: "hyperplastic lymph node medullary cords" EXACT [] is_a: MP:0011224 ! abnormal lymph node medullary cord morphology created_by: csmith creation_date: 2011-07-21T09:54:39Z [Term] id: MP:0011226 name: abnormal thiamin level def: "any anomaly in the concentration of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver" [GO:0006772] synonym: "abnormal thiamine level" EXACT [] synonym: "abnormal vitamin B1 level" EXACT [] is_a: MP:0005400 ! abnormal vitamin level created_by: csmith creation_date: 2011-07-21T01:53:25Z [Term] id: MP:0011227 name: abnormal vitamin B12 level def: "any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom" [GO:0009236] synonym: "abnormal cobalamin level" EXACT [] is_a: MP:0005400 ! abnormal vitamin level created_by: csmith creation_date: 2011-07-21T02:02:26Z [Term] id: MP:0011228 name: abnormal vitamin D level def: "any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)" [GO:0042368] synonym: "abnormal calciferol level" NARROW [] synonym: "abnormal calciol level" NARROW [] synonym: "abnormal cholecalciferol level" NARROW [] synonym: "abnormal ergocalciferol level" NARROW [] synonym: "abnormal vitamin D2 level" NARROW [] synonym: "abnormal vitamin D3 level" NARROW [] is_a: MP:0005401 ! abnormal fat-soluble vitamin level created_by: csmith creation_date: 2011-07-21T02:02:26Z [Term] id: MP:0011229 name: abnormal vitamin C level def: "any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species" [GO:0019852] synonym: "abnormal ascorbate level" EXACT [] synonym: "abnormal ascorbic acid level" EXACT [] synonym: "abnormal L-ascorbic acid level" EXACT [] is_a: MP:0005400 ! abnormal vitamin level created_by: csmith creation_date: 2011-07-21T02:02:26Z [Term] id: MP:0011230 name: abnormal folic acid level def: "any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia" [MESH:D03.438.733.631.400] synonym: "abnormal folate level" NARROW [] synonym: "abnormal folvite level" NARROW [] synonym: "abnormal pteroylglutamic acid level" NARROW [] synonym: "abnormal vitamin B9 level" EXACT [] synonym: "abnormal vitamin M level" EXACT [] is_a: MP:0005400 ! abnormal vitamin level created_by: csmith creation_date: 2011-07-21T02:02:26Z [Term] id: MP:0011231 name: abnormal vitamin E level def: "any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant" [GO:0010189] synonym: "abnormal alpha-tocopherol level" NARROW [] synonym: "abnormal tocopherol level" NARROW [] is_a: MP:0005401 ! abnormal fat-soluble vitamin level created_by: csmith creation_date: 2011-07-21T02:02:26Z [Term] id: MP:0011232 name: abnormal vitamin A level def: "any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet" [GO:0035238] synonym: "abnormal retinal level" NARROW [] synonym: "abnormal retinaldehyde level" NARROW [] synonym: "abnormal retinoic acid level" NARROW [] synonym: "abnormal retinol level" NARROW [] is_a: MP:0005401 ! abnormal fat-soluble vitamin level created_by: csmith creation_date: 2011-07-21T02:02:26Z [Term] id: MP:0011233 name: abnormal vitamin A metabolism def: "altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet" [GO:0035238] synonym: "abnormal retinal metabolism" NARROW [] synonym: "abnormal retinaldehyde metabolism" NARROW [] synonym: "abnormal retinoic acid metabolism" NARROW [] synonym: "abnormal retinol metabolism" NARROW [] is_a: MP:0004019 ! abnormal vitamin homeostasis created_by: csmith creation_date: 2011-07-21T03:06:19Z [Term] id: MP:0011234 name: abnormal retinol level def: "any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation" [ISBN:0-683-40008-8] synonym: "abnormal vitamin A1 level" EXACT [] is_a: MP:0011232 ! abnormal vitamin A level created_by: csmith creation_date: 2011-07-21T03:12:45Z [Term] id: MP:0011235 name: abnormal blood oxygen capacity def: "the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood is not as expected" [ISBN:0-683-40008-8] synonym: "abnormal blood oxygen affinity" EXACT [] synonym: "abnormal haemoglobin dissociation curve" RELATED [] synonym: "abnormal hemoglobin affinity for oxygen" NARROW [] synonym: "abnormal hemoglobin dissociation curve" RELATED [] synonym: "abnormal oxygen dissociation curve" RELATED [] is_a: MP:0009642 ! abnormal blood homeostasis created_by: csmith creation_date: 2011-07-27T11:36:45Z [Term] id: MP:0011236 name: increased blood oxygen capacity def: "an increase in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood" [ISBN:0-683-40008-8] synonym: "increased blood oxygen affinity" EXACT [] is_a: MP:0011235 ! abnormal blood oxygen capacity created_by: csmith creation_date: 2011-07-27T11:47:30Z [Term] id: MP:0011237 name: decreased blood oxygen capacity def: "a decrease in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood" [ISBN:0-683-40008-8] synonym: "decreased blood oxygen affinity" EXACT [] is_a: MP:0011235 ! abnormal blood oxygen capacity created_by: csmith creation_date: 2011-07-27T11:47:30Z [Term] id: MP:0011238 name: abnormal inner ear development def: "atypical initial production, differentiation, migration or maturation of the labyrinth, including the semicircular canals, vestibule and cochlea" [MGI:llw2] is_a: MP:0000026 ! abnormal inner ear morphology is_a: MP:0003938 ! abnormal ear development created_by: csmith creation_date: 2011-07-27T12:39:11Z [Term] id: MP:0011239 name: abnormal skin coloration def: "a variation in an expected skin color or complexion that may be due to inflammation, pigment defects or other causes" [MGI:llw2] is_a: MP:0002060 ! abnormal skin morphology created_by: csmith creation_date: 2011-07-27T01:21:38Z [Term] id: MP:0011240 name: abnormal fetal derived definitive erythrocyte morphology def: "any structural anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515] synonym: "abnormal liver derived definitive erythrocyte morphology" RELATED [] xref: CL:0002357 is_a: MP:0002447 ! abnormal erythrocyte morphology created_by: csmith creation_date: 2011-07-27T02:46:43Z [Term] id: MP:0011241 name: abnormal fetal derived definitive erythrocyte cell number def: "anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515] synonym: "abnormal liver derived definitive erythrocyte cell number" RELATED [] xref: CL:0002357 is_a: MP:0001586 ! abnormal erythrocyte cell number is_a: MP:0011240 ! abnormal fetal derived definitive erythrocyte morphology created_by: csmith creation_date: 2011-07-27T02:59:33Z [Term] id: MP:0011242 name: increased fetal derived definitive erythrocyte cell number def: "increased number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515] synonym: "increased liver derived definitive erythrocyte cell number" RELATED [] xref: CL:0002357 is_a: MP:0003131 ! increased erythrocyte cell number is_a: MP:0011241 ! abnormal fetal derived definitive erythrocyte cell number created_by: csmith creation_date: 2011-07-27T03:02:09Z [Term] id: MP:0011243 name: decreased fetal derived definitive erythrocyte cell number def: "reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515] synonym: "decreased liver derived definitive erythrocyte cell number" RELATED [] synonym: "reduced fetal derived definitive erythrocyte cell number" EXACT [] synonym: "reduced liver derived definitive erythrocyte cell number" RELATED [] xref: CL:0002357 is_a: MP:0002875 ! decreased erythrocyte cell number is_a: MP:0011241 ! abnormal fetal derived definitive erythrocyte cell number created_by: csmith creation_date: 2011-07-27T03:02:09Z [Term] id: MP:0011244 name: absent fetal derived definitive erythrocytes def: "absence of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515] xref: CL:0002357 is_a: MP:0000215 ! absent erythrocytes is_a: MP:0011243 ! decreased fetal derived definitive erythrocyte cell number created_by: csmith creation_date: 2011-07-27T03:02:09Z [Term] id: MP:0011245 name: abnormal fetal derived definitive erythrocyte physiology def: "any functional anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515] synonym: "abnormal liver derived definitive erythrocyte physiology" RELATED [] xref: CL:0002357 is_a: MP:0003656 ! abnormal erythrocyte physiology created_by: csmith creation_date: 2011-07-27T03:21:28Z [Term] id: MP:0011246 name: abnormal fetal liver hematopoietic progenitor cell morphology def: "any structural anomaly of a hematopoietic stem cell that resides in the fetal liver; in mice, this cell type is first observed at E10.5" [CL:0002353] synonym: "abnormal fetal liver hematopoietic stem cell morphology" EXACT [] xref: CL:0002353 is_a: MP:0004808 ! abnormal hematopoietic stem cell morphology created_by: csmith creation_date: 2011-07-27T03:23:26Z [Term] id: MP:0011247 name: abnormal yolk sac hematopoietic stem cell morphology def: "any structural anomaly of a hematopoietic stem found in the yolk sac" [CL:0002354] is_a: MP:0004808 ! abnormal hematopoietic stem cell morphology created_by: csmith creation_date: 2011-07-27T03:25:55Z [Term] id: MP:0011248 name: visceral organ asymmetry def: "lateral duplication of some or all internal organs" [PMID:10646794] is_a: MP:0004133 ! heterotaxia created_by: csmith creation_date: 2011-07-27T03:43:10Z [Term] id: MP:0011249 name: abdominal situs inversus alt_id: Fyler:3816 def: "lateral transposition or mirroring of the viscera of the abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other" [MGI:csmith] subset: CvDC_Terms is_a: MP:0004133 ! heterotaxia created_by: csmith creation_date: 2011-09-09T10:53:02Z [Term] id: MP:0011250 name: abdominal situs ambiguus alt_id: Fyler:3817 def: "an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [MGI:csmith, PMID:18039396] subset: CvDC_Terms synonym: "abdominal heterotaxy" EXACT [] synonym: "abdominal situs ambiguous" EXACT [] is_a: MP:0004133 ! heterotaxia created_by: csmith creation_date: 2011-09-09T11:26:30Z [Term] id: MP:0011251 name: bronchial situs inversus alt_id: Fyler:4237 def: "anomaly in the asymmetry of the bronchi of the lung such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith] subset: CvDC_Terms is_a: MP:0010854 ! lung situs inversus created_by: csmith creation_date: 2011-09-09T11:29:01Z [Term] id: MP:0011252 name: situs inversus totalis alt_id: Fyler:0100 alt_id: Fyler:100 def: "the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia)" [MGI:csmith] subset: CvDC_Terms synonym: "situs inversus with dextrocardia" EXACT [] is_a: MP:0002766 ! situs inversus created_by: csmith creation_date: 2011-09-09T11:31:07Z [Term] id: MP:0011253 name: situs inversus with levocardia alt_id: Fyler:0102 alt_id: Fyler:102 def: "situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia" [ISBN:0-683-40008-8, MGI:csmith] comment: The term "levocardia" can also be used to indicate the absence of dextrocardia, and thus normal positioning of the heart, part of situs solitus, normal positioning of the organs. However, this usage is less frequent. subset: CvDC_Terms synonym: "levocardia" BROAD [] xref: MPATH:714 is_a: MP:0002766 ! situs inversus created_by: csmith creation_date: 2011-09-09T11:36:01Z [Term] id: MP:0011254 name: superior-inferior ventricles alt_id: Fyler:0184 alt_id: Fyler:184 def: "an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships" [ISBN:0-683-40008-8, MGI:csmith] subset: CvDC_Terms synonym: "over-and-under ventricles" EXACT [] synonym: "supero-inferior heart" EXACT [] synonym: "upstairs-downstairs heart" EXACT [] is_a: MP:0005294 ! abnormal heart ventricle morphology is_a: MP:0006065 ! abnormal heart position or orientation created_by: csmith creation_date: 2011-09-09T12:00:47Z [Term] id: MP:0011255 name: abnormal anterior visceral endoderm cell migration def: "any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue" [MGI:csmith, PMID:17078044] synonym: "abnormal AVE cell migration" EXACT [] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0004264 ! abnormal extraembryonic tissue physiology created_by: csmith creation_date: 2011-09-12T02:42:33Z [Term] id: MP:0011256 name: abnormal neural fold morphology def: "any structural anomaly of the elevated margins of the neural groove" [ISBN:0-683-40008-8] synonym: "abnormal medullary fold morphology" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology created_by: csmith creation_date: 2011-09-12T03:41:17Z [Term] id: MP:0011257 name: abnormal head fold morphology def: "any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development" [ISBN:0-683-40008-8, PMID:10791309] comment: Head fold is properly used to describe the rostrally located, crescent shaped fold of the embryonic disc around the future foregut. However, it is often (and incorrectly) used as a synonym for the ventrally located cephalic neural folds. Take care to select the correct term. synonym: "abnormal headfold morphology" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology created_by: csmith creation_date: 2011-09-12T03:49:42Z [Term] id: MP:0011258 name: abnormal tail fold morphology def: "any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future caudal end of the developing embryo" [ISBN:0-683-40008-8] synonym: "abnormal caudal fold morphology" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology created_by: csmith creation_date: 2011-09-12T03:49:57Z [Term] id: MP:0011259 name: abnormal cephalic neural fold morphology def: "any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo" [ISBN:0-683-40008-8, MGI:csmith] comment: Head fold is properly used to describe the rostrally located, crescent shaped fold of the embryonic disc around the future foregut. However, it is often (and incorrectly) used as a synonym for the ventrally located cephalic neural folds. Take care to select the correct term. synonym: "abnormal anterior neural fold morphology" EXACT [] synonym: "abnormal cranial neural fold morphology" EXACT [] synonym: "abnormal head fold morphology" BROAD [] synonym: "abnormal headfold morphology" BROAD [] is_a: MP:0011256 ! abnormal neural fold morphology created_by: csmith creation_date: 2011-09-12T04:05:08Z [Term] id: MP:0011260 name: abnormal head mesenchyme morphology def: "any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells" [ISBN:0-683-40008-8] synonym: "abnormal cephalic mesenchyme morphology" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0003935 ! abnormal craniofacial development created_by: csmith creation_date: 2011-09-13T11:23:04Z [Term] id: MP:0011261 name: abnormal limb mesenchyme morphology def: "any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal limb bud mesenchyme" EXACT [] is_a: MP:0005650 ! abnormal limb bud morphology created_by: csmith creation_date: 2011-09-13T11:41:26Z [Term] id: MP:0011262 name: abnormal branchial arch mesenchyme morphology def: "any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal pharyngeal arch mesenchyme morphology" EXACT [] is_a: MP:0010395 ! abnormal branchial arch development is_a: MP:0011260 ! abnormal head mesenchyme morphology created_by: csmith creation_date: 2011-09-13T11:46:26Z [Term] id: MP:0011263 name: abnormal spleen mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0009323 ! abnormal spleen development created_by: csmith creation_date: 2011-09-13T12:15:12Z [Term] id: MP:0011264 name: abnormal cardiac mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0002925 ! abnormal cardiovascular development created_by: csmith creation_date: 2011-09-13T12:38:32Z [Term] id: MP:0011265 name: abnormal pancreas mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0003934 ! abnormal pancreas development created_by: csmith creation_date: 2011-09-13T12:41:20Z [Term] id: MP:0011266 name: abnormal frontonasal mesenchyme morphology def: "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal fronto-nasal mesenchyme morphology" EXACT [] synonym: "abnormal naso-frontal mesenchyme morphology" EXACT [] is_a: MP:0011260 ! abnormal head mesenchyme morphology created_by: csmith creation_date: 2011-09-13T12:45:23Z [Term] id: MP:0011267 name: abnormal excitatory postsynaptic current amplitude def: "anomaly in the size (height or maximum displacement) or shape of the evoked excitatory postsynaptic current wave" [MGI:csmith] is_a: MP:0002910 ! abnormal excitatory postsynaptic currents created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011268 name: biphasic excitatory postsynaptic current amplitude def: "the appearance of two peaks instead of one peak in the evoked excitatory postsynaptic current wave" [MGI:csmith] is_a: MP:0011267 ! abnormal excitatory postsynaptic current amplitude created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011269 name: increased excitatory postsynaptic current amplitude def: "increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith] is_a: MP:0011267 ! abnormal excitatory postsynaptic current amplitude created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011270 name: decreased excitatory postsynaptic current amplitude def: "reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith] synonym: "reduced excitatory postsynaptic current amplitude" EXACT [] is_a: MP:0011267 ! abnormal excitatory postsynaptic current amplitude created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011271 name: prolonged excitatory postsynaptic current rise time def: "an increase in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave" [MGI:csmith] is_a: MP:0002910 ! abnormal excitatory postsynaptic currents created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011272 name: short excitatory postsynaptic current rise time def: "an decrease in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave" [MGI:csmith] is_a: MP:0002910 ! abnormal excitatory postsynaptic currents created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011273 name: prolonged excitatory postsynaptic current decay time is_a: MP:0002910 ! abnormal excitatory postsynaptic currents created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011274 name: short excitatory postsynaptic current decay time is_a: MP:0002910 ! abnormal excitatory postsynaptic currents created_by: csmith creation_date: 2011-09-13T01:39:03Z [Term] id: MP:0011275 name: abnormal behavioral response to light def: "unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light" [GO:0009416, MGI:llw2] is_a: MP:0004924 ! abnormal behavior created_by: csmith creation_date: 2011-09-13T02:14:19Z [Term] id: MP:0011276 name: increased tail pigmentation def: "visually detectable excess of pigment present on the tail surface" [MGI:csmith] synonym: "tail hyperpigmentation" EXACT [] is_a: MP:0001188 ! hyperpigmentation is_a: MP:0005174 ! abnormal tail pigmentation created_by: csmith creation_date: 2011-10-11T11:11:58Z [Term] id: MP:0011277 name: decreased tail pigmentation def: "visually detectable dilution of pigment present on the tail surface" [MGI:csmith] synonym: "reduced tail pigmentation" EXACT [] synonym: "tail hypopigmentation" EXACT [] is_a: MP:0005174 ! abnormal tail pigmentation is_a: MP:0005408 ! hypopigmentation created_by: csmith creation_date: 2011-10-11T11:12:40Z [Term] id: MP:0011278 name: increased ear pigmentation def: "visually detectable excess of pigment present in the outer ear" [MGI:csmith] synonym: "ear hyperpigmentation" EXACT [] is_a: MP:0000015 ! abnormal ear pigmentation is_a: MP:0001188 ! hyperpigmentation created_by: csmith creation_date: 2011-10-11T11:14:48Z [Term] id: MP:0011279 name: decreased ear pigmentation def: "visually detectable dilution of pigment present in the outer ear" [MGI:csmith] synonym: "ear hypopigmentation" EXACT [] synonym: "pale ear" RELATED [] synonym: "reduced ear pigmentation" EXACT [] is_a: MP:0000015 ! abnormal ear pigmentation is_a: MP:0005408 ! hypopigmentation created_by: csmith creation_date: 2011-10-11T11:14:48Z [Term] id: MP:0011280 name: abnormal flank coat pigmentation def: "irregular or unusual pigmentation of the hair between the last rib and the hip" [MGI:llw2] is_a: MP:0002075 ! abnormal coat/hair pigmentation created_by: csmith creation_date: 2011-10-11T11:33:09Z [Term] id: MP:0011281 name: abnormal olfactory epithelium cilium morphology def: "any structural anomaly of the cilia of the epithelial cells that line the interior of the nose" [MGI:smb] synonym: "abnormal olfactory epithelium cilia morphology" EXACT [] is_a: MP:0008789 ! abnormal olfactory epithelium morphology created_by: csmith creation_date: 2011-10-11T11:36:01Z [Term] id: MP:0011282 name: increased podocyte apoptosis def: "increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis" [MGI:anna] synonym: "increased glomerular epithelial cell apoptosis" EXACT [] synonym: "increased visceral epithelial cell apoptosis" EXACT [] is_a: MP:0011368 ! increased kidney apoptosis created_by: csmith creation_date: 2011-10-11T02:29:19Z [Term] id: MP:0011283 name: abnormal erythropoietin level def: "anomalous fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal erithropoyetin level" EXACT [] synonym: "abnormal erythropoetin level" EXACT [] synonym: "abnormal erythropoietic hormone level" EXACT [] synonym: "abnormal hematopoietin level" EXACT [] synonym: "abnormal hemopoietin level" EXACT [] is_a: MP:0003953 ! abnormal hormone level created_by: csmith creation_date: 2011-10-11T02:33:41Z [Term] id: MP:0011284 name: abnormal circulating erythropoietin level def: "anomalous blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal erithropoyetin circulating level" EXACT [] synonym: "abnormal erythropoetin circulating level" EXACT [] synonym: "abnormal erythropoietic hormone circulating level" EXACT [] synonym: "abnormal hematopoietin circulating level" EXACT [] synonym: "abnormal hemopoietin circulating level" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level is_a: MP:0011283 ! abnormal erythropoietin level created_by: csmith creation_date: 2011-10-11T02:34:31Z [Term] id: MP:0011285 name: increased circulating erythropoietin level def: "greater blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased erithropoyetin circulating level" EXACT [] synonym: "increased erythropoetin circulating level" EXACT [] synonym: "increased erythropoietic hormone circulating level" EXACT [] synonym: "increased hematopoietin circulating level" EXACT [] synonym: "increased hemopoietin circulating level" EXACT [] is_a: MP:0011284 ! abnormal circulating erythropoietin level is_a: MP:0011287 ! increased erythropoietin level created_by: csmith creation_date: 2011-10-11T02:35:50Z [Term] id: MP:0011286 name: decreased circulating erythropoietin level def: "reduced blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased erithropoyetin circulating level" EXACT [] synonym: "decreased erythropoetin circulating level" EXACT [] synonym: "decreased erythropoietic hormone circulating level" EXACT [] synonym: "decreased hematopoietin circulating level" EXACT [] synonym: "decreased hemopoietin circulating level" EXACT [] synonym: "reduced erithropoyetin circulating level" EXACT [] synonym: "reduced erythropoetin circulating level" EXACT [] synonym: "reduced erythropoietic hormone circulating level" EXACT [] synonym: "reduced hematopoietin circulating level" EXACT [] synonym: "reduced hemopoietin circulating level" EXACT [] is_a: MP:0011284 ! abnormal circulating erythropoietin level is_a: MP:0011288 ! decreased erythropoietin level created_by: csmith creation_date: 2011-10-11T02:35:50Z [Term] id: MP:0011287 name: increased erythropoietin level def: "greater fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "increased erithropoyetin level" EXACT [] synonym: "increased erythropoetin level" EXACT [] synonym: "increased erythropoietic hormone level" EXACT [] synonym: "increased hematopoietin level" EXACT [] synonym: "increased hemopoietin level" EXACT [] is_a: MP:0011283 ! abnormal erythropoietin level created_by: csmith creation_date: 2011-10-11T02:35:50Z [Term] id: MP:0011288 name: decreased erythropoietin level def: "reduced fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith] synonym: "decreased erithropoyetin level" EXACT [] synonym: "decreased erythropoetin level" EXACT [] synonym: "decreased erythropoietic hormone level" EXACT [] synonym: "decreased hematopoietin level" EXACT [] synonym: "decreased hemopoietin level" EXACT [] synonym: "reduced erithropoyetin level" EXACT [] synonym: "reduced erythropoetin level" EXACT [] synonym: "reduced erythropoietic hormone level" EXACT [] synonym: "reduced hematopoietin level" EXACT [] synonym: "reduced hemopoietin level" EXACT [] is_a: MP:0011283 ! abnormal erythropoietin level created_by: csmith creation_date: 2011-10-11T02:35:50Z [Term] id: MP:0011289 name: abnormal nephron number def: "anomaly in the total number of the filtering units of the kidney; nephron number can be used as an index of the efficiency of ureteric branching and nephrogenesis" [MGI:anna] is_a: MP:0003881 ! abnormal nephron morphology created_by: csmith creation_date: 2011-10-11T03:49:41Z [Term] id: MP:0011290 name: decreased nephron number def: "reduction in the total number of filtering units of the kidney" [MGI:anna] synonym: "oligonephronia" EXACT [] synonym: "reduced nephron endowment" EXACT [] synonym: "reduced nephron number" EXACT [] is_a: MP:0011289 ! abnormal nephron number created_by: csmith creation_date: 2011-10-11T03:49:41Z [Term] id: MP:0011291 name: nephron necrosis def: "pathologic death of cells within, or a portion of the nephron, usually due to irreversible damage" [MGI:anna] is_a: MP:0003881 ! abnormal nephron morphology created_by: csmith creation_date: 2011-10-11T03:49:41Z [Term] id: MP:0011292 name: absent nephron def: "complete absence of functional filtering units in the kidney" [MGI:anna] is_a: MP:0003881 ! abnormal nephron morphology created_by: csmith creation_date: 2011-10-11T03:49:41Z [Term] id: MP:0011293 name: dilated nephron def: "stretched or widened aperture of the luminal space of the filtering unit of the kidney" [MGI:anna] is_a: MP:0003881 ! abnormal nephron morphology created_by: csmith creation_date: 2011-10-11T03:49:41Z [Term] id: MP:0011294 name: renal glomerulus hypertrophy def: "increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement" [MGI:anna] synonym: "hypertrophic glomerular capillaries" EXACT [] synonym: "hypertrophic renal glomeruli" EXACT [] synonym: "renal glomerular hypertrophy " EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-10-11T03:52:43Z [Term] id: MP:0011295 name: abnormal tubuloglomerular feedback response def: "any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa" [MGI:anna] synonym: "abnormal TGF response" EXACT [] synonym: "abnormal tubuloglomerular feedback mechanism" EXACT [] is_a: MP:0002136 ! abnormal kidney physiology created_by: csmith creation_date: 2011-10-11T03:56:31Z [Term] id: MP:0011296 name: decreased tubuloglomerular feedback response def: "attenuation of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa" [MGI:anna] synonym: "impaired tubuloglomerular feedback mechanism" EXACT [] synonym: "reduced TGF response" EXACT [] is_a: MP:0011295 ! abnormal tubuloglomerular feedback response created_by: csmith creation_date: 2011-10-11T03:58:00Z [Term] id: MP:0011297 name: absent tubuloglomerular feedback response def: "absence of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa" [MGI:anna] synonym: "absent TGF response" EXACT [] is_a: MP:0011295 ! abnormal tubuloglomerular feedback response created_by: csmith creation_date: 2011-10-11T03:58:00Z [Term] id: MP:0011298 name: ureter hypoplasia def: "underdevelopment or reduced size of the ureter, usually due to a reduced number of cells" [MGI:anna] synonym: "hypoplastic ureter" EXACT [] synonym: "rudimentary ureter" EXACT [] synonym: "ureteric hypoplasia" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology created_by: csmith creation_date: 2011-10-11T04:00:19Z [Term] id: MP:0011299 name: abnormal macula densa morphology def: "any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid" [MGI:anna] is_a: MP:0002829 ! abnormal juxtaglomerular apparatus morphology is_a: MP:0004757 ! abnormal distal convoluted tubule morphology created_by: csmith creation_date: 2011-10-11T04:01:54Z [Term] id: MP:0011300 name: abnormal juxtaglomerular cell morphology def: "any structural anomaly of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa; J-G cells are distinguished by their granulated cytoplasm and play a critical role in the renin-angiotensin system and thus in renal autoregulation" [MGI:anna] synonym: "abnormal (renal) granular cell morphology" EXACT [] synonym: "abnormal J-G cell morphology" EXACT [] is_a: MP:0002829 ! abnormal juxtaglomerular apparatus morphology created_by: csmith creation_date: 2011-10-11T04:05:39Z [Term] id: MP:0011301 name: juxtaglomerular cell hyperplasia def: "increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa" [MGI:anna] synonym: "hyperplastic juxtaglomerular cells" EXACT [] synonym: "hyperplastic renal granular cells" EXACT [] synonym: "J-G cell hyperplasia" EXACT [] is_a: MP:0011300 ! abnormal juxtaglomerular cell morphology created_by: csmith creation_date: 2011-10-11T04:05:39Z [Term] id: MP:0011302 name: abnormal extraglomerular mesangial cell morphology def: "any structural anomaly of the light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa; lacis cells form the juxtaglomerular apparatus in combination with two other types of cells: the macula densa of the distal convoluted tubule and juxtaglomerular cells of the afferent arteriole" [MGI:anna] synonym: "abnormal Goormaghtigh cell morphology" EXACT [] synonym: "abnormal lacis cell morphology" EXACT [] is_a: MP:0002829 ! abnormal juxtaglomerular apparatus morphology is_a: MP:0011340 ! abnormal extraglomerular mesangium morphology created_by: csmith creation_date: 2011-10-11T04:05:39Z [Term] id: MP:0011303 name: absent kidney papilla def: "absence of the apex (tip) of a renal pyramid i.e. the location where each medullary pyramid empties urine into a minor calyx" [MGI:anna] synonym: "absent kidney papillae" EXACT [] synonym: "absent renal papilla" EXACT [] is_a: MP:0004193 ! abnormal kidney papilla morphology created_by: csmith creation_date: 2011-10-11T04:08:05Z [Term] id: MP:0011304 name: kidney papillary atrophy def: "acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna] synonym: "atrophied kidney papilla" EXACT [] synonym: "renal papillary atrophy" EXACT [] is_a: MP:0004193 ! abnormal kidney papilla morphology created_by: csmith creation_date: 2011-10-11T04:08:05Z [Term] id: MP:0011305 name: dilated kidney calyx def: "an expansion in the lumen volume or area of any of the branches of the renal pelvis that surround each renal papilla and collect urine" [MGI:anna] synonym: "calyceal dilation" EXACT [] synonym: "dilated renal calyx" EXACT [] is_a: MP:0004195 ! abnormal kidney calyx morphology created_by: csmith creation_date: 2011-10-11T04:14:15Z [Term] id: MP:0011306 name: absent kidney pelvis def: "absence of the funnel shaped proximal portion of the ureter, normally formed by convergence of the major calices" [MGI:anna] synonym: "absent renal pelvis" EXACT [] is_a: MP:0004194 ! abnormal kidney pelvis morphology created_by: csmith creation_date: 2011-10-11T04:15:16Z [Term] id: MP:0011307 name: kidney medulla cysts def: "abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids" [MGI:anna] synonym: "renal medulla cysts" EXACT [] synonym: "renal medullary cysts" EXACT [] is_a: MP:0003014 ! abnormal kidney medulla morphology is_a: MP:0003675 ! kidney cysts created_by: csmith creation_date: 2011-10-11T04:18:37Z [Term] id: MP:0011308 name: kidney corticomedullary cysts def: "development of abnormal membranous sacs in the corticomedullary junction of the kidney" [MGI:anna] synonym: "kidney cortico-medullary cysts" EXACT [] synonym: "renal corticomedullary cysts" EXACT [] is_a: MP:0003675 ! kidney cysts created_by: csmith creation_date: 2011-10-11T04:19:29Z [Term] id: MP:0011309 name: abnormal kidney arterial blood vessel morphology def: "any structural anomaly of the network of tubes that supply blood to the renal tissues" [MGI:csmith] is_a: MP:0000530 ! abnormal kidney blood vessel morphology is_a: MP:0011655 ! abnormal systemic artery morphology created_by: csmith creation_date: 2011-10-12T01:45:11Z [Term] id: MP:0011310 name: abnormal kidney capillary morphology def: "any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues" [http://en.wikipedia.org/wiki/Capillary, MGI:csmith] is_a: MP:0000530 ! abnormal kidney blood vessel morphology is_a: MP:0003658 ! abnormal capillary morphology created_by: csmith creation_date: 2011-10-12T01:46:04Z [Term] id: MP:0011311 name: abnormal kidney venous blood vessel morphology def: "any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation" [MGI:csmith] is_a: MP:0000530 ! abnormal kidney blood vessel morphology is_a: MP:0002725 ! abnormal vein morphology created_by: csmith creation_date: 2011-10-12T01:46:27Z [Term] id: MP:0011312 name: abnormal kidney afferent arteriole morphology def: "any structural anomaly of the blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal renal afferent arteriole morphology" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology is_a: MP:0011309 ! abnormal kidney arterial blood vessel morphology created_by: csmith creation_date: 2011-10-12T01:47:23Z [Term] id: MP:0011313 name: abnormal kidney efferent arteriole morphology def: "any structural anomaly of the blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule" [ISBN:0-683-40008-8, MGI:csmith] synonym: "abnormal renal efferent arteriole morphology" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology is_a: MP:0011309 ! abnormal kidney arterial blood vessel morphology created_by: csmith creation_date: 2011-10-12T01:47:58Z [Term] id: MP:0011314 name: abnormal kidney cortex artery morphology def: "any structural anomaly of the network of tubes that supplies blood to the renal cortex" [MGI:csmith] synonym: "abnormal renal cortex arterial system morphology" EXACT [] synonym: "abnormal renal cortex artery morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0011309 ! abnormal kidney arterial blood vessel morphology created_by: csmith creation_date: 2011-10-12T01:48:36Z [Term] id: MP:0011315 name: abnormal kidney arcuate artery morphology def: "any structural anomaly of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries" [ISBN:0-683-40008-8] synonym: "abnormal arcuate artery morphology" EXACT [] synonym: "abnormal renal arcuate artery morphology" EXACT [] is_a: MP:0011314 ! abnormal kidney cortex artery morphology created_by: csmith creation_date: 2011-10-12T01:49:41Z [Term] id: MP:0011316 name: abnormal kidney interlobular artery morphology def: "any structural anomaly of the branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli" [ISBN:0-683-40008-8] synonym: "abnormal cortical radiate arteries morphology" EXACT [] synonym: "abnormal cortical radiate artery morphology" EXACT [] synonym: "abnormal interlobular artery morphology" EXACT [] synonym: "abnormal interlobular artery of kidney morphology" RELATED [] synonym: "abnormal renal interlobular artery morphology" EXACT [] is_a: MP:0011314 ! abnormal kidney cortex artery morphology created_by: csmith creation_date: 2011-10-12T01:49:41Z [Term] id: MP:0011317 name: abnormal renal artery morphology def: "any structural anomaly of the pair of major vessels which arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood; small branches of the renal artery also supply the suprarenal gland, the ureter and some surrounding tissues" [MGI:csmith] is_a: MP:0011309 ! abnormal kidney arterial blood vessel morphology created_by: csmith creation_date: 2011-10-12T01:50:57Z [Term] id: MP:0011318 name: abnormal right renal artery morphology def: "any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the right kidney with blood" [MGI:csmith] is_a: MP:0011317 ! abnormal renal artery morphology created_by: csmith creation_date: 2011-10-12T01:51:25Z [Term] id: MP:0011319 name: abnormal left renal artery morphology def: "any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the left kidney with blood" [MGI:csmith] is_a: MP:0011317 ! abnormal renal artery morphology created_by: csmith creation_date: 2011-10-12T01:51:46Z [Term] id: MP:0011320 name: abnormal glomerular capillary morphology def: "any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus" [MGI:csmith] synonym: "abnormal glomerulus capillary morphology" EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology is_a: MP:0011310 ! abnormal kidney capillary morphology created_by: csmith creation_date: 2011-10-12T02:18:30Z [Term] id: MP:0011321 name: abnormal peritubular capillary morphology def: "any structural anomaly of the tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure" [MGI:csmith] is_a: MP:0011310 ! abnormal kidney capillary morphology created_by: csmith creation_date: 2011-10-12T02:18:59Z [Term] id: MP:0011322 name: abnormal kidney cortex vein morphology def: "any structural anomaly of the network of tubes that receives blood from the renal cortex" [MGI:csmith] synonym: "abnormal renal cortex vein morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0011311 ! abnormal kidney venous blood vessel morphology created_by: csmith creation_date: 2011-10-12T02:21:27Z [Term] id: MP:0011323 name: abnormal renal vein morphology def: "any structural anomaly of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0011311 ! abnormal kidney venous blood vessel morphology created_by: csmith creation_date: 2011-10-12T02:21:27Z [Term] id: MP:0011324 name: abnormal kidney vasa recta morphology is_a: MP:0000530 ! abnormal kidney blood vessel morphology created_by: csmith creation_date: 2011-10-12T02:21:27Z [Term] id: MP:0011325 name: abnormal arcuate vein morphology def: "any structural anomaly of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins" [ISBN:0-683-40008-8] synonym: "abnormal arciform veins of kidney morphology" EXACT [] synonym: "abnormal arcuate veins of kidney morphology" EXACT [] synonym: "abnormal venae arcuatae renis morphology" EXACT [] is_a: MP:0011322 ! abnormal kidney cortex vein morphology created_by: csmith creation_date: 2011-10-12T02:22:12Z [Term] id: MP:0011326 name: abnormal interlobular vein morphology def: "any structural anomaly of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins" [ISBN:0-683-40008-8] is_a: MP:0011322 ! abnormal kidney cortex vein morphology created_by: csmith creation_date: 2011-10-12T02:22:12Z [Term] id: MP:0011327 name: abnormal left renal vein morphology def: "any structural anomaly of the longer of the two renal veins that receives blood from the left kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava" [ISBN:0-683-40008-8] is_a: MP:0011323 ! abnormal renal vein morphology created_by: csmith creation_date: 2011-10-12T02:26:43Z [Term] id: MP:0011328 name: abnormal right renal vein morphology def: "any structural anomaly of the shorter of the two renal veins that receives blood from the right kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava" [ISBN:0-683-40008-8, MGI:csmith] is_a: MP:0011323 ! abnormal renal vein morphology created_by: csmith creation_date: 2011-10-12T02:27:00Z [Term] id: MP:0011329 name: abnormal inner renal medulla vasa recta morphology is_a: MP:0011324 ! abnormal kidney vasa recta morphology is_a: MP:0011333 ! abnormal kidney inner medulla morphology created_by: csmith creation_date: 2011-10-12T02:27:33Z [Term] id: MP:0011330 name: abnormal kidney outer medulla vasa recta morphology is_a: MP:0011324 ! abnormal kidney vasa recta morphology is_a: MP:0011332 ! abnormal kidney outer medulla morphology created_by: csmith creation_date: 2011-10-12T02:28:50Z [Term] id: MP:0011331 name: abnormal papillary duct morphology def: "any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa" [ISBN:0-683-40008-8] synonym: "abnormal Bellini's duct morphology" EXACT [] synonym: "abnormal duct of Bellini morphology" EXACT [] is_a: MP:0004754 ! abnormal kidney collecting duct morphology created_by: csmith creation_date: 2011-10-12T02:46:47Z [Term] id: MP:0011332 name: abnormal kidney outer medulla morphology def: "any structural anomaly of the outer medullary region of the adult kidney containing the short Loops of Henle and collecting ducts" [MGI:csmith, PMID:20614633] is_a: MP:0003014 ! abnormal kidney medulla morphology created_by: csmith creation_date: 2011-10-12T03:44:46Z [Term] id: MP:0011333 name: abnormal kidney inner medulla morphology def: "any structural anomaly of the inner medullary region of the adult kidney containing collecting ducts and the long loops of Henle" [MGI:csmith, PMID:20614633] is_a: MP:0003014 ! abnormal kidney medulla morphology created_by: csmith creation_date: 2011-10-12T03:44:46Z [Term] id: MP:0011334 name: abnormal nephrogenic zone morphology def: "any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation" [PMID:17452023] is_a: MP:0000527 ! abnormal kidney development created_by: csmith creation_date: 2011-10-12T03:48:15Z [Term] id: MP:0011335 name: abnormal kidney pelvis smooth muscle morphology def: "any structural anomaly of the smooth muscle tissue surrounding the urothelium of the kidney pelvis" [MGI:csmith] is_a: MP:0004194 ! abnormal kidney pelvis morphology is_a: MP:0011426 ! abnormal ureter smooth muscle morphology created_by: csmith creation_date: 2011-10-12T03:48:15Z [Term] id: MP:0011336 name: abnormal kidney pelvis urothelium morphology def: "any structural anomaly of the epithelial lining of the luminal space of the kidney pelvis" [MGI:csmith] synonym: "abnormal kidney pelvis endothelium morphology" EXACT [] synonym: "abnormal kidney pelvis urothelial lining morphology" EXACT [] synonym: "abnormal renal pelvis urothelium morphology" EXACT [] is_a: MP:0003630 ! abnormal urothelium morphology is_a: MP:0004194 ! abnormal kidney pelvis morphology created_by: csmith creation_date: 2011-10-12T03:48:15Z [Term] id: MP:0011337 name: abnormal perihilar interstitium morphology def: "any structural anomaly of the part of the renal interstitium surrounding the pelvis" [MGI:anna] is_a: MP:0011425 ! abnormal kidney interstitium morphology created_by: csmith creation_date: 2011-10-12T03:48:15Z [Term] id: MP:0011338 name: abnormal mesangial matrix morphology def: "any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells" [MGI:csmith] synonym: "abnormal ECM morphology" BROAD [] synonym: "abnormal extracellular mesangial matrix morphology" EXACT [] synonym: "mesangial extracellular matrix morphology" EXACT [] is_a: MP:0011339 ! abnormal glomerular mesangium morphology created_by: csmith creation_date: 2011-10-12T03:58:27Z [Term] id: MP:0011339 name: abnormal glomerular mesangium morphology def: "any structural anomaly of the inner layer of the glomerulus within the basement membrane surrounding the glomerular capillaries that contain the intraglomerular mesangial cells" [MGI:csmith] xref: MA:0002606 is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-10-12T04:00:09Z [Term] id: MP:0011340 name: abnormal extraglomerular mesangium morphology def: "any structural anomaly of the tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus" [ISBN:0-683-40008-8] synonym: "abnormal polkissen of Zimmermann morphology" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology created_by: csmith creation_date: 2011-10-12T04:01:37Z [Term] id: MP:0011341 name: abnormal loop of Henle descending limb morphology def: "any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure" [MGI:anna] synonym: "abnormal ansa nephroni descending limb morphology" EXACT [] synonym: "abnormal descending limb of Henle's loop morphology" EXACT [] synonym: "abnormal descending limb of loop of Henle morphology" EXACT [] synonym: "abnormal descending loop of Henle morphology" EXACT [] xref: MA:0001679 is_a: MP:0004755 ! abnormal loop of Henle morphology created_by: csmith creation_date: 2011-10-13T09:44:50Z [Term] id: MP:0011342 name: abnormal loop of Henle ascending limb morphology def: "any structural anomaly of the distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium" [MGI:anna] synonym: "abnormal ansa nephroni ascending limb morphology" EXACT [] synonym: "abnormal ascending limb of Henle's loop morphology" EXACT [] synonym: "abnormal ascending limb of loop of Henle morphology" EXACT [] synonym: "abnormal ascending loop of Henle morphology" EXACT [] xref: MA:0001676 is_a: MP:0004755 ! abnormal loop of Henle morphology created_by: csmith creation_date: 2011-10-13T09:44:50Z [Term] id: MP:0011343 name: abnormal loop of Henle ascending limb thin segment morphology def: "any structural anomaly of the initial sub-portion of the ascending loop of Henle localized in the juxtamedullary nephron of the kidney; it is lined by simple squamous epithelium, impermeable to water but permeable to ions and other small particles" [MGI:anna] synonym: "abnormal ansa nephroni ascending limb thin segment morphology" EXACT [] synonym: "abnormal thin ascending limb of Henle's loop morphology" EXACT [] synonym: "abnormal thin ascending limb of loop of Henle morphology" EXACT [] xref: MA:0001678 is_a: MP:0011342 ! abnormal loop of Henle ascending limb morphology created_by: csmith creation_date: 2011-10-13T09:44:50Z [Term] id: MP:0011344 name: abnormal loop of Henle ascending limb thick segment morphology def: "any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule" [MGI:anna] synonym: "abnormal ansa nephroni ascending limb thick segment morphology" EXACT [] synonym: "abnormal distal straight tubule morphology" EXACT [] synonym: "abnormal thick ascending limb of Henle's loop morphology" EXACT [] synonym: "abnormal thick ascending limb of loop of Henle morphology" EXACT [] xref: MA:0001677 is_a: MP:0011342 ! abnormal loop of Henle ascending limb morphology created_by: csmith creation_date: 2011-10-13T09:44:50Z [Term] id: MP:0011345 name: truncated loop of Henle def: "failure of the developing loop of Henle to elongate and extend into the medullary zone of the kidney" [MGI:anna] synonym: "truncated ansa nephroni" EXACT [] is_a: MP:0004755 ! abnormal loop of Henle morphology created_by: csmith creation_date: 2011-10-13T09:44:50Z [Term] id: MP:0011346 name: renal tubule atrophy def: "acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna] synonym: "atrophic renal tubules" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology is_a: MP:0004970 ! kidney atrophy created_by: mgi creation_date: 2011-10-14T06:33:12Z [Term] id: MP:0011347 name: abnormal kidney medullary ray morphology def: "any structural anomaly in the center of a renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla" [ISBN:0-683-40008-8, MGI:anna] synonym: "abnomal kidney cortical medullary ray morphology" EXACT [] synonym: "abnomal renal medullary ray morphology" EXACT [] synonym: "abnormal Ferrein's pyramid morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology created_by: csmith creation_date: 2011-10-14T10:08:04Z [Term] id: MP:0011348 name: abnormal renal glomerulus basement membrane morphology def: "any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna] synonym: "abnormal GBM morphology" EXACT [] synonym: "abnormal glomerular basement membrane morphology" EXACT [] synonym: "abnormal glomerulus basement membrane morphology" EXACT [] synonym: "abnormal kidney glomerulus basement membrane morphology" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology created_by: csmith creation_date: 2011-10-14T10:29:55Z [Term] id: MP:0011349 name: abnormal renal glomerulus basement membrane thickness def: "increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna] synonym: "abnormal GBM thickness" EXACT [] synonym: "abnormal glomerular basement membrane thickness" EXACT [] synonym: "abnormal glomerulus basement membrane thickness" EXACT [] synonym: "abnormal kidney glomerulus basement membrane thickness" EXACT [] is_a: MP:0011348 ! abnormal renal glomerulus basement membrane morphology created_by: csmith creation_date: 2011-10-14T10:35:12Z [Term] id: MP:0011350 name: abnormal proximal convoluted tubule brush border morphology def: "any structural anomaly of the densely packed microvilli that cover the luminal surface of epithelial cells of the proximal convoluted tubule; microvilli increase the luminal surface area of cells, sense the fluid flow in the tubule lumen and convert this information via biochemical responses into reabsorption" [MGI:anna] synonym: "abnormal kidney apical microvillus border morphology" EXACT [] synonym: "abnormal kidney apical microvillus striated border morphology" EXACT [] synonym: "abnormal kidney brush border microvilli morphology" EXACT [] synonym: "abnormal kidney brush border morphology" EXACT [] synonym: "abnormal kidney striated border microvilli morphology" EXACT [] synonym: "abnormal kidney striated border morphology" EXACT [] synonym: "abnormal kidney tubular brush border morphology" EXACT [] synonym: "abnormal kidney tubular striated border morphology" EXACT [] synonym: "abnormal kidney tubule brush border morphology" EXACT [] synonym: "abnormal kidney tubule striated border morphology" EXACT [] synonym: "abnormal renal brush border microvilli morphology" EXACT [] synonym: "abnormal renal brush border morphology" EXACT [] synonym: "abnormal renal microvillus border morphology" EXACT [] synonym: "abnormal renal microvillus striated border morphology" EXACT [] synonym: "abnormal renal proximal tubular brush border morphology" EXACT [] synonym: "abnormal renal proximal tubular striated border morphology" EXACT [] synonym: "abnormal renal proximal tubule brush border morphology" EXACT [] synonym: "abnormal renal proximal tubule striated border morphology" EXACT [] synonym: "abnormal renal striated border microvilli morphology" EXACT [] synonym: "abnormal renal striated border morphology" EXACT [] synonym: "abnormal renal tubular brush border morphology" EXACT [] synonym: "abnormal renal tubular striated border morphology" EXACT [] synonym: "abnormal renal tubule brush border morphology" EXACT [] synonym: "abnormal renal tubule striated border morphology" EXACT [] is_a: MP:0004756 ! abnormal proximal convoluted tubule morphology created_by: csmith creation_date: 2011-10-14T11:26:48Z [Term] id: MP:0011351 name: absent proximal convoluted tubule brush border def: "failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule" [MGI:anna] synonym: "absent kidney apical microvillus border" EXACT [] synonym: "absent kidney apical microvillus striated border" EXACT [] synonym: "absent kidney brush border" EXACT [] synonym: "absent kidney brush border microvilli" EXACT [] synonym: "absent kidney striated border" EXACT [] synonym: "absent kidney striated border microvilli" EXACT [] synonym: "absent kidney tubular brush border" EXACT [] synonym: "absent kidney tubular striated border" EXACT [] synonym: "absent kidney tubule brush border" EXACT [] synonym: "absent kidney tubule striated border" EXACT [] synonym: "absent renal brush border" EXACT [] synonym: "absent renal brush border microvilli" EXACT [] synonym: "absent renal microvillus border" EXACT [] synonym: "absent renal microvillus striated border" EXACT [] synonym: "absent renal proximal tubular brush border" EXACT [] synonym: "absent renal proximal tubular striated border" EXACT [] synonym: "absent renal proximal tubule brush border" EXACT [] synonym: "absent renal proximal tubule striated border" EXACT [] synonym: "absent renal striated border" EXACT [] synonym: "absent renal striated border microvilli" EXACT [] synonym: "absent renal tubular brush border" EXACT [] synonym: "absent renal tubular striated border" EXACT [] synonym: "absent renal tubule brush border" EXACT [] synonym: "absent renal tubule striated border" EXACT [] is_a: MP:0011350 ! abnormal proximal convoluted tubule brush border morphology created_by: csmith creation_date: 2011-10-14T11:33:29Z [Term] id: MP:0011352 name: proximal convoluted tubule brush border loss def: "attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes" [MGI:anna] synonym: "kidney apical microvillus border loss" EXACT [] synonym: "kidney apical microvillus striated border loss" EXACT [] synonym: "kidney brush border loss" EXACT [] synonym: "kidney brush border microvilli loss" EXACT [] synonym: "kidney striated border loss" EXACT [] synonym: "kidney striated border microvilli loss" EXACT [] synonym: "kidney tubular brush border loss" EXACT [] synonym: "kidney tubular striated border loss" EXACT [] synonym: "kidney tubule brush border loss" EXACT [] synonym: "kidney tubule striated border loss" EXACT [] synonym: "renal brush border loss" EXACT [] synonym: "renal brush border microvilli loss" EXACT [] synonym: "renal microvillus border loss" EXACT [] synonym: "renal microvillus striated border loss" EXACT [] synonym: "renal proximal tubular brush border loss" EXACT [] synonym: "renal proximal tubular striated border loss" EXACT [] synonym: "renal proximal tubule brush border loss" EXACT [] synonym: "renal proximal tubule striated border loss" EXACT [] synonym: "renal striated border loss" EXACT [] synonym: "renal striated border microvilli loss" EXACT [] synonym: "renal tubular brush border loss" EXACT [] synonym: "renal tubular striated border loss" EXACT [] synonym: "renal tubule brush border loss" EXACT [] synonym: "renal tubule striated border loss" EXACT [] is_a: MP:0011350 ! abnormal proximal convoluted tubule brush border morphology created_by: csmith creation_date: 2011-10-14T11:33:29Z [Term] id: MP:0011353 name: expanded mesangial matrix def: "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith] synonym: "accumulated mesangial matrix" EXACT [] synonym: "expanded extracellular mesangial matrix" EXACT [] synonym: "expanded mesangial extracellular matrix" EXACT [] synonym: "increase in mesangial matrix" EXACT [] synonym: "mesangial matrix expansion" EXACT [] synonym: "mesangial sclerosis" EXACT [] synonym: "thickened mesangial matrix" EXACT [] is_a: MP:0011338 ! abnormal mesangial matrix morphology created_by: csmith creation_date: 2011-10-14T12:11:55Z [Term] id: MP:0011354 name: absent renal glomerulus def: "complete absence of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit" [ISBN:0-683-40008-8] synonym: "absent glomerular tuft" EXACT [] synonym: "absent glomeruli" EXACT [] synonym: "absent kidney glomerulus" EXACT [] synonym: "absent malpighian glomerulus" EXACT [] synonym: "absent malpighian tuft" EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-10-14T03:51:42Z [Term] id: MP:0011355 name: abnormal kidney interlobar artery morphology def: "any structural anomaly of the branches of the segmental arteries of the kidney that cross between the renal lobes and give rise to the arculate arteries in the cortex" [ISBN:0-683-40008-8] synonym: "abnormal renal interlobar artery morphology" EXACT [] is_a: MP:0011309 ! abnormal kidney arterial blood vessel morphology created_by: csmith creation_date: 2011-10-17T10:55:39Z [Term] id: MP:0011356 name: renal artery stenosis alt_id: Fyler:2634 def: "diffuse constriction or narrowing of one or both renal arteries" [MGI:csmith] subset: CvDC_Terms synonym: "RAS" EXACT [] is_a: MP:0006135 ! artery stenosis is_a: MP:0011317 ! abnormal renal artery morphology created_by: csmith creation_date: 2011-10-17T11:18:29Z [Term] id: MP:0011357 name: supernumerary renal arteries def: "two or more arteries branch from the abdominal aorta and supply a single kidney" [MGI:csmith] is_a: MP:0011317 ! abnormal renal artery morphology created_by: csmith creation_date: 2011-10-17T11:33:25Z [Term] id: MP:0011358 name: renal artery aneurysm def: "a protruding sac formed by the dilation of the wall of a renal artery, resulting from a weakening of the vessel wall or heart muscle" [MGI:csmith] is_a: MP:0003279 ! aneurysm is_a: MP:0011317 ! abnormal renal artery morphology created_by: csmith creation_date: 2011-10-17T12:03:00Z [Term] id: MP:0011359 name: decreased glomerular capillary number def: "reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles" [MGI:csmith] synonym: "decreased glomerulus capillary number" EXACT [] synonym: "reduced glomerular capillary number" EXACT [] synonym: "reduced glomerulus capillary number" EXACT [] is_a: MP:0011320 ! abnormal glomerular capillary morphology created_by: csmith creation_date: 2011-10-17T12:12:22Z [Term] id: MP:0011360 name: kidney cortex hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the outer portion of the kidney, which contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts" [MGI:anna] synonym: "hypoplastic kidney cortex" EXACT [] synonym: "hypoplastic renal cortex" EXACT [] synonym: "kidney cortical hypoplasia" EXACT [] synonym: "renal cortex hypoplasia" EXACT [] synonym: "renal cortical hypoplasia" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology created_by: csmith creation_date: 2011-10-17T04:11:24Z [Term] id: MP:0011361 name: pelvic kidney def: "an ectopic kidney located outside the renal fossa and within the pelvic cavity; pelvic kidneys may also, on occasion, occur as fused midline horseshoe kidneys" [MGI:anna] is_a: MP:0003600 ! ectopic kidney created_by: csmith creation_date: 2011-10-17T04:14:10Z [Term] id: MP:0011362 name: ectopic adrenal gland def: "an adrenal gland located outside of its normal position" [MGI:anna] synonym: "adrenal ectopia" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology created_by: csmith creation_date: 2011-10-17T04:16:00Z [Term] id: MP:0011363 name: renal glomerulus atrophy def: "acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna] synonym: "atrophic glomeruli" EXACT [] synonym: "shrunken glomeruli" EXACT [] is_a: MP:0004970 ! kidney atrophy is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-10-17T04:17:57Z [Term] id: MP:0011364 name: abnormal metanephros morphology def: "any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine" [GO:0001656] synonym: "abnormal hind kidney morphology" EXACT [] synonym: "abnormal metanephra" EXACT [] synonym: "abnormal metanephroi" EXACT [] is_a: MP:0000527 ! abnormal kidney development created_by: csmith creation_date: 2011-10-18T04:11:52Z [Term] id: MP:0011365 name: small metanephros def: "reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord" [MGI:anna] synonym: "decreased metanephron size" EXACT [] synonym: "reduced metanephron size" EXACT [] synonym: "small hind kidney" EXACT [] synonym: "small metanephra" EXACT [] synonym: "small metanephroi" EXACT [] is_a: MP:0011364 ! abnormal metanephros morphology created_by: csmith creation_date: 2011-10-18T04:13:07Z [Term] id: MP:0011366 name: absent metanephros def: "absence of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord" [MGI:anna] synonym: "absent hind kidney" EXACT [] synonym: "absent metanephra" EXACT [] synonym: "absent metanephroi" EXACT [] is_a: MP:0011364 ! abnormal metanephros morphology created_by: csmith creation_date: 2011-10-18T04:13:07Z [Term] id: MP:0011367 name: abnormal kidney apoptosis def: "change in the timing or the number of kidney cells undergoing programmed cell death" [MGI:anna] synonym: "abnormal renal apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002136 ! abnormal kidney physiology created_by: csmith creation_date: 2011-10-19T11:35:55Z [Term] id: MP:0011368 name: increased kidney apoptosis def: "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna] synonym: "increased renal apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0011367 ! abnormal kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:38:28Z [Term] id: MP:0011369 name: increased renal glomerulus apoptosis def: "increase in the number of cells of the kidney glomerulus undergoing programmed cell death" [MGI:anna] synonym: "increased glomerular apoptosis" EXACT [] synonym: "increased glomerular cell apoptosis" EXACT [] synonym: "increased glomerulus cell apoptosis" EXACT [] is_a: MP:0011368 ! increased kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:40:16Z [Term] id: MP:0011370 name: increased mesangial cell apoptosis def: "increase in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death" [MGI:anna] synonym: "increased deep cell apoptosis" EXACT [] synonym: "increased intercapillary cell apoptosis" EXACT [] is_a: MP:0011368 ! increased kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:41:26Z [Term] id: MP:0011371 name: decreased kidney apoptosis def: "decrease in the number of cells of the kidney undergoing programmed cell death" [MGI:anna] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0011367 ! abnormal kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:42:06Z [Term] id: MP:0011372 name: decreased renal tubule apoptosis def: "decrease in the number of renal tubule cells undergoing programmed cell death" [MGI:anna] is_a: MP:0011371 ! decreased kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:46:26Z [Term] id: MP:0011373 name: decreased mesangial cell apoptosis def: "decrease in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death" [MGI:anna] synonym: "decreased deep cell apoptosis" EXACT [] synonym: "decreased intercapillary cell apoptosis" EXACT [] is_a: MP:0011371 ! decreased kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:46:26Z [Term] id: MP:0011374 name: decreased podocyte apoptosis def: "decrease in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis" [MGI:anna] synonym: "decreased glomerular epithelial cell apoptosis" EXACT [] synonym: "decreased visceral epithelial cell apoptosis" EXACT [] is_a: MP:0011371 ! decreased kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:46:26Z [Term] id: MP:0011375 name: decreased renal glomerulus apoptosis def: "decrease in the number of cells of the kidney glomerulus undergoing programmed cell death" [MGI:anna] synonym: "decreased glomerular apoptosis" EXACT [] synonym: "decreased glomerular cell apoptosis" EXACT [] synonym: "decreased glomerulus cell apoptosis" EXACT [] is_a: MP:0011371 ! decreased kidney apoptosis created_by: csmith creation_date: 2011-10-19T11:46:26Z [Term] id: MP:0011376 name: abnormal kidney corticomedullary boundary morphology def: "any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary" [MGI:anna] synonym: "abnormal kidney corticomedullary border morphology" EXACT [] synonym: "abnormal kidney corticomedullary boundary zone" EXACT [] synonym: "abnormal kidney corticomedullary junction " EXACT [] synonym: "abnormal renal cortico-medullary border morphology" EXACT [] synonym: "abnormal renal cortico-medullary boundary zone" EXACT [] synonym: "abnormal renal cortico-medullary junction " EXACT [] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2011-10-19T12:35:50Z [Term] id: MP:0011377 name: renal glomerulus fibrosis def: "formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process" [MGI:anna] synonym: "fibrotic glomerular capillaries" EXACT [] synonym: "fibrotic glomeruli" EXACT [] synonym: "kidney glomerular fibrosis" EXACT [] synonym: "kidney glomerulus fibrosis" EXACT [] synonym: "renal glomerular fibrosis" EXACT [] is_a: MP:0003985 ! renal fibrosis is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-10-19T12:42:42Z [Term] id: MP:0011378 name: abnormal kidney outer medulla inner stripe morphology def: "any structural anomaly of the deep, centrally located portion of the renal outer medulla that is traversed by thin descending and thick ascending portions of the loops of Henle" [GO:0072057] is_a: MP:0011332 ! abnormal kidney outer medulla morphology created_by: csmith creation_date: 2011-10-19T01:45:24Z [Term] id: MP:0011379 name: abnormal kidney outer medulla outer stripe morphology def: "any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region" [MP:0072058] is_a: MP:0011332 ! abnormal kidney outer medulla morphology created_by: csmith creation_date: 2011-10-19T01:47:18Z [Term] id: MP:0011380 name: enlarged brain ventricle def: "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb] synonym: "increased brain ventricle size" EXACT [] is_a: MP:0000822 ! abnormal brain ventricle morphology created_by: csmith creation_date: 2011-10-20T04:03:47Z [Term] id: MP:0011381 name: abnormal kidney lobe morphology def: "any structural anomaly of the portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it; human kidneys have multilobar (multipyramidal) architecture while mice and rats have unilobar (unipyramidal) kidneys" [MGI:csmith] synonym: "abnormal renal lobe morphology" EXACT [] synonym: "kidney lobe dysplasia" EXACT [] synonym: "renal lobe dysplasia" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2011-10-21T01:54:13Z [Term] id: MP:0011382 name: abnormal kidney lobule morphology def: "any structural anomaly of the portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys" [MGI:csmith] synonym: "abnormal cortical lobule morphology" EXACT [] synonym: "abnormal renal lobule morphology" EXACT [] synonym: "cortical lobule dysplasia" EXACT [] synonym: "kidney lobule dysplasia" EXACT [] synonym: "renal lobule dysplasia" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2011-10-21T01:55:00Z [Term] id: MP:0011383 name: abnormal kidney capsule morphology def: "any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage" [MGI:anna] synonym: "abnormal renal capsule morphology" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2011-10-21T02:19:54Z [Term] id: MP:0011384 name: abnormal progesterone level def: "anomaly in the concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy" [ISBN:0-683-40008-8] synonym: "abnormal luteohormone level" EXACT [] synonym: "abnormal pregnancy hormone level" EXACT [] synonym: "abnormal progestational level hormone" EXACT [] is_a: MP:0003953 ! abnormal hormone level created_by: csmith creation_date: 2011-10-21T02:24:53Z [Term] id: MP:0011385 name: abnormal testosterone level def: "anomaly in the concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females" [ISBN:0-683-40008-8] is_a: MP:0003953 ! abnormal hormone level created_by: csmith creation_date: 2011-10-21T02:25:30Z [Term] id: MP:0011386 name: increased metanephric mesenchyme apoptosis def: "increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion" [MGI:anna] synonym: "increased metanephric blastema apoptosis" EXACT [] synonym: "increased metanephric mesoderm apoptosis" EXACT [] synonym: "increased nephric mesenchyme apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0010984 ! abnormal metanephric mesenchyme morphology created_by: csmith creation_date: 2011-10-21T02:42:31Z [Term] id: MP:0011387 name: absent metanephric mesenchyme def: "absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue" [MGI:anna] synonym: "absent metanephric blastema " EXACT [] synonym: "absent metanephric mesoderm" EXACT [] synonym: "asbent nephric mesenchyme" EXACT [] is_a: MP:0010984 ! abnormal metanephric mesenchyme morphology created_by: csmith creation_date: 2011-10-21T02:42:31Z [Term] id: MP:0011388 name: absent heart def: "absence of the hollow, muscular organ that maintains the circulation of the blood" [MGI:smb] is_a: MP:0000266 ! abnormal heart morphology created_by: csmith creation_date: 2011-10-21T02:49:27Z [Term] id: MP:0011389 name: absent optic disc def: "absence of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve" [MGI:smb] is_a: MP:0008259 ! abnormal optic disc morphology created_by: csmith creation_date: 2011-10-21T02:55:08Z [Term] id: MP:0011390 name: abnormal fetal cardiomyocyte physiology def: "any functional anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [MGI:csmith, PMID:17429040] synonym: "abnormal cardiomyoblast physiology" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology created_by: csmith creation_date: 2011-10-21T03:17:50Z [Term] id: MP:0011391 name: abnormal fetal cardiomyocyte apoptosis def: "change in the timing or the number of fetal cardiomyocytes undergoing programmed cell death" [MGI:csmith] synonym: "abnormal fetal cardiomyoblast apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0011390 ! abnormal fetal cardiomyocyte physiology created_by: csmith creation_date: 2011-10-21T03:20:27Z [Term] id: MP:0011392 name: increased fetal cardiomyocyte apoptosis def: "increase in the number of fetal cardiomyocytes undergoing programmed cell death" [MGI:csmith] synonym: "increased fetal cardiomyoblast apoptosis" EXACT [] is_a: MP:0006042 ! increased apoptosis is_a: MP:0011391 ! abnormal fetal cardiomyocyte apoptosis created_by: csmith creation_date: 2011-10-21T03:22:13Z [Term] id: MP:0011393 name: decreased fetal cardiomyocyte apoptosis def: "reduction in the number of fetal cardiomyocytes undergoing programmed cell death" [MGI:csmith] synonym: "decreased fetal cardiomyoblast apoptosis" EXACT [] synonym: "reduced fetal cardiomyoblast apoptosis" EXACT [] synonym: "reduced fetal cardiomyocyte apoptosis" EXACT [] is_a: MP:0006043 ! decreased apoptosis is_a: MP:0011391 ! abnormal fetal cardiomyocyte apoptosis created_by: csmith creation_date: 2011-10-21T03:22:13Z [Term] id: MP:0011394 name: increased fetal cardiomyocyte proliferation def: "increase in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:csmith] synonym: "increased cardiomyoblast proliferation" EXACT [] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0003567 ! abnormal fetal cardiomyocyte proliferation created_by: csmith creation_date: 2011-10-21T03:25:12Z [Term] id: MP:0011395 name: decreased fetal cardiomyocyte proliferation def: "reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:csmith] synonym: "decreased cardiomyoblast proliferation" EXACT [] synonym: "reduced fetal cardiomyoblast proliferation" RELATED [] synonym: "reduced fetal cardiomyocyte proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0003567 ! abnormal fetal cardiomyocyte proliferation created_by: csmith creation_date: 2011-10-21T03:25:39Z [Term] id: MP:0011396 name: abnormal sleep behavior def: "any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity" [MGI:smb] is_a: MP:0004924 ! abnormal behavior created_by: csmith creation_date: 2011-10-21T03:37:45Z [Term] id: MP:0011397 name: endoneurial edema def: "an excessive accumulation of serous fluid in the interstitial connective tissue of a peripheral nerve" [MGI:llw2] is_a: MP:0001785 ! edema is_a: MP:0003633 ! abnormal nervous system physiology created_by: csmith creation_date: 2011-10-21T03:43:25Z [Term] id: MP:0011398 name: abnormal endoneurial fluid pressure def: "measureable anomalies in the fluid of the ganglia and peripheral nerves that lie outside the brain and spinal cord which may interfere with normal nerve physiology" [MGI:llw2] synonym: "abnormal EFP" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology created_by: csmith creation_date: 2011-10-21T03:47:07Z [Term] id: MP:0011399 name: increased endoneurial fluid pressure def: "a measureable increase of serous fluid in the interstitial connective tissue of a peripheral nerve which may interefere with normal nerve physiology" [MGI:llw2] is_a: MP:0011398 ! abnormal endoneurial fluid pressure created_by: csmith creation_date: 2011-10-21T03:50:54Z [Term] id: MP:0011400 name: complete lethality def: "all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified" [MGI:llw2] is_a: MP:0010769 ! abnormal survival created_by: csmith creation_date: 2011-10-21T03:57:31Z [Term] id: MP:0011401 name: abnormal vascular smooth muscle development def: "anomaly in the process of forming the nonstriated, involuntary muscle tissue of the blood vessels" [MGI:smb] is_a: MP:0000259 ! abnormal vascular development is_a: MP:0000733 ! abnormal muscle development is_a: MP:0005592 ! abnormal vascular smooth muscle morphology created_by: csmith creation_date: 2011-10-21T04:01:54Z [Term] id: MP:0011402 name: renal cast def: "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna] synonym: "renal tubular cast" EXACT [] synonym: "renal tubule cast" EXACT [] synonym: "urinary cast" EXACT [] is_a: MP:0003881 ! abnormal nephron morphology created_by: csmith creation_date: 2011-10-24T12:54:37Z [Term] id: MP:0011403 name: pyelonephritis def: "a diffuse pyogenic infection of the pelvis and parenchyma of the kidney; an ascending urinary tract infection that has reached the pyelum or pelvis of the kidney usually resulting from noncontagious bacterial infection of the bladder" [MGI:anna] synonym: "nephropyelitis" EXACT [] is_a: MP:0001859 ! kidney inflammation created_by: csmith creation_date: 2011-10-24T01:05:42Z [Term] id: MP:0011404 name: pyelitis def: "acute inflammation of the pelvis of the kidney, caused by bacterial infection" [MGI:anna] synonym: "kidney pelvis inflammation" EXACT [] synonym: "renal pelvis inflammation" EXACT [] is_a: MP:0001859 ! kidney inflammation created_by: csmith creation_date: 2011-10-24T01:05:42Z [Term] id: MP:0011405 name: tubulointerstitial nephritis def: "diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease" [MGI:anna] synonym: "interstitial nephritis" EXACT [] synonym: "interstitial tubular nephritis" EXACT [] synonym: "tuberulointerstitial nephritis" EXACT [] synonym: "tubulo-interstitial nephritis" EXACT [] is_a: MP:0001859 ! kidney inflammation created_by: csmith creation_date: 2011-10-24T01:05:42Z [Term] id: MP:0011406 name: abnormal retrotrapezoid nucleus morphology def: "any structural anomaly in the loose collection of neurons that reside in the rostral medulla close to the medullary surface, ventral and immediately caudal of nVII, that are crucial for CO2 sensing in the brain" [MGI:smb, PMID:21900566] is_a: MP:0000846 ! abnormal medulla oblongata morphology created_by: csmith creation_date: 2011-10-31T04:13:24Z [Term] id: MP:0011407 name: absent nephrogenic zone def: "absence of the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons;in rodents including mice, this region normally persists for a few days postnatally, although it is lost in humans by 36 weeks of gestation" [PMID:17452023] is_a: MP:0011334 ! abnormal nephrogenic zone morphology created_by: csmith creation_date: 2011-10-31T04:16:59Z [Term] id: MP:0011408 name: renal tubule hypertrophy def: "increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement" [MGI:anna] synonym: "hypertrophic kidney tubules" EXACT [] synonym: "hypertrophic renal tubules" EXACT [] synonym: "kidney tubule hypertrophy" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology created_by: csmith creation_date: 2011-10-31T04:19:17Z [Term] id: MP:0011409 name: increased renal glomerulus basement membrane thickness def: "increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna] synonym: "GBM thickening" EXACT [] synonym: "thick renal glomerulus basement membrane " EXACT [] synonym: "thickened renal glomerulus basement membrane" EXACT [] is_a: MP:0011349 ! abnormal renal glomerulus basement membrane thickness created_by: csmith creation_date: 2011-10-31T04:22:16Z [Term] id: MP:0011410 name: ectopic testis def: "one or both of the testes located outside the normal pathway of descent into the scrotum" [MGI:anna] synonym: "ectopic testes" EXACT [] synonym: "ectopic testicle" EXACT [] synonym: "ectopic testicles" EXACT [] synonym: "testicular ectopia" EXACT [] is_a: MP:0001146 ! abnormal testis morphology created_by: csmith creation_date: 2011-10-31T04:24:26Z [Term] id: MP:0011411 name: abnormal gonadal ridge morphology def: "any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary" [MGI:anna] synonym: "abnormal genital cord morphology" EXACT [] synonym: "abnormal genital ridge morphology" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology created_by: csmith creation_date: 2011-10-31T04:26:50Z [Term] id: MP:0011412 name: gonadal ridge hypoplasia def: "underdevelopment or reduced size of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros, usually due to reduced cell number; normally, primordial germ cells become embedded in it, establishing it as the primordium of the testis or ovary" [MGI:anna] synonym: "hypoplastic genital cord" EXACT [] synonym: "hypoplastic genital ridge" EXACT [] synonym: "hypoplastic gonadal ridge" EXACT [] is_a: MP:0011411 ! abnormal gonadal ridge morphology created_by: csmith creation_date: 2011-10-31T04:27:29Z [Term] id: MP:0011413 name: colorless urine def: "absence of the usual straw-coloration of the urine" [MGI:anna] is_a: MP:0003619 ! abnormal urine color created_by: csmith creation_date: 2011-11-01T01:18:41Z [Term] id: MP:0011414 name: erythruria def: "passage of red colored urine" [MGI:anna] synonym: "red urine" EXACT [] synonym: "reddish colored urine" EXACT [] is_a: MP:0003619 ! abnormal urine color created_by: csmith creation_date: 2011-11-01T01:18:41Z [Term] id: MP:0011415 name: abnormal aldosterone level def: "anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule" [ISBN:0-683-40008-8] is_a: MP:0003953 ! abnormal hormone level created_by: csmith creation_date: 2011-11-07T10:18:19Z [Term] id: MP:0011416 name: abnormal testis interstitial tissue morphology def: "any structural anomaly of the delicate connective tissue stroma that separates the seminiferous tubules and contains clusters of endocrine Leydig cells which secrete testosterone" [ISBN:0-683-40008-8] synonym: "abnormal testis stroma morphology" RELATED [] xref: MA:0002713 is_a: MP:0001146 ! abnormal testis morphology created_by: csmith creation_date: 2011-11-07T10:36:07Z [Term] id: MP:0011417 name: abnormal renal transport def: "any anomaly of the directed movement of substances through the kidney" [MGI:csmith] is_a: MP:0002136 ! abnormal kidney physiology created_by: csmith creation_date: 2011-11-08T10:17:22Z [Term] id: MP:0011418 name: leukocyturia def: "presence of white blood cells in the urine" [MGI:anna] synonym: "leucocyturia" EXACT [] synonym: "leukocytouria" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-08T02:34:21Z [Term] id: MP:0011419 name: erythrocyturia def: "presence of red blood cells in the urine" [MGI:anna] comment: Hematuria (presence of blood in the urine), erythrocyturia (presence of red blood cells in the urine),and erythruria (passage of red urine,) are often used interchangeably. is_a: MP:0005161 ! hematuria created_by: csmith creation_date: 2011-11-08T03:27:10Z [Term] id: MP:0011420 name: pyuria def: "presence of pus in the urine when voided; a sign of inflammation often related to urinary tract infection" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-08T03:28:31Z [Term] id: MP:0011421 name: cylindruria def: "presence of renal cylinders or casts in the urine" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-08T03:29:01Z [Term] id: MP:0011422 name: kidney medulla atrophy def: "acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna] synonym: "atrophic kidney medulla" EXACT [] synonym: "atrophic renal medulla" EXACT [] synonym: "kidney medullary atrophy" EXACT [] synonym: "kidney medullary wasting" EXACT [] synonym: "renal medulla atrophy" EXACT [] synonym: "renal medullary atrophy" EXACT [] synonym: "renal medullary wasting" EXACT [] is_a: MP:0003014 ! abnormal kidney medulla morphology is_a: MP:0004970 ! kidney atrophy created_by: csmith creation_date: 2011-11-08T03:48:01Z [Term] id: MP:0011423 name: kidney cortex atrophy def: "acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna] synonym: "atrophic kidney cortex" EXACT [] synonym: "atrophic renal cortex" EXACT [] synonym: "kidney cortical atrophy" EXACT [] synonym: "kidney cortical wasting" EXACT [] synonym: "renal cortex atrophy" EXACT [] synonym: "renal cortical atrophy" EXACT [] synonym: "renal cortical wasting" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0004970 ! kidney atrophy created_by: csmith creation_date: 2011-11-08T03:48:43Z [Term] id: MP:0011424 name: decreased urine uric acid level def: "abnormally low amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MGI:anna] synonym: "decreased urine urate level" EXACT [] synonym: "hypouricosuria" EXACT [] synonym: "hypouricuria" EXACT [] is_a: MP:0009809 ! abnormal urine uric acid level created_by: csmith creation_date: 2011-11-08T03:49:43Z [Term] id: MP:0011425 name: abnormal kidney interstitium morphology def: "any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure" [MGI:anna] synonym: "abnormal renal interstitium morphology" EXACT [] synonym: "kidney interstitium dysplasia" EXACT [] synonym: "renal interstitium dysplasia" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2011-11-08T04:02:12Z [Term] id: MP:0011426 name: abnormal ureter smooth muscle morphology def: "any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter" [MGI:anna] synonym: "abnormal ureteral smooth muscle morphology" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology created_by: csmith creation_date: 2011-11-08T04:10:17Z [Term] id: MP:0011427 name: mesangial cell hyperplasia def: "increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna] synonym: "deep cell hyperplasia" EXACT [] synonym: "hyperplastic mesangial cells" EXACT [] synonym: "increased mesangial cellularity" EXACT [] synonym: "intercapillary cell hyperplasia" EXACT [] synonym: "intraglomerular mesangial cell hyperplasia" EXACT [] synonym: "mesangial hypercellularity" EXACT [] is_a: MP:0005327 ! abnormal mesangial cell morphology created_by: csmith creation_date: 2011-11-08T04:12:43Z [Term] id: MP:0011428 name: mesangial cell hypoplasia def: "decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna] synonym: "decreased mesangial cellularity" EXACT [] synonym: "deep cell hypoplasia" EXACT [] synonym: "hypoplastic mesangial cells" EXACT [] synonym: "intercapillary cell hypoplasia" EXACT [] synonym: "intraglomerular mesangial cell hypoplasia" EXACT [] synonym: "mesangial hypocellularity" EXACT [] is_a: MP:0005327 ! abnormal mesangial cell morphology created_by: csmith creation_date: 2011-11-08T04:12:43Z [Term] id: MP:0011429 name: absent mesangial cell def: "absence of the phagocytic cells in the capillary tuft of the renal glomerulus, normally interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna] synonym: "absent deep cell" EXACT [] synonym: "absent intercapillary cell" EXACT [] synonym: "absent intraglomerular mesangial cell" EXACT [] is_a: MP:0005327 ! abnormal mesangial cell morphology created_by: csmith creation_date: 2011-11-08T04:12:43Z [Term] id: MP:0011430 name: mesangiolysis def: "an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis" [MGI:anna] synonym: "dissolution of the mesangial matrix" EXACT [] synonym: "mesangial cell degeneration" EXACT [] is_a: MP:0011339 ! abnormal glomerular mesangium morphology created_by: csmith creation_date: 2011-11-08T04:13:05Z [Term] id: MP:0011431 name: increased urine flow rate def: "increased volume of urine produced in a specified period of time" [MGI:anna] synonym: "elevation of urinary volume" EXACT [] synonym: "increase in urine flow" EXACT [] synonym: "increased urinary flow rate" EXACT [] is_a: MP:0001756 ! abnormal urination created_by: csmith creation_date: 2011-11-08T04:17:51Z [Term] id: MP:0011432 name: decreased urine flow rate def: "reduced volume of urine produced in a specified period of time" [MGI:anna] synonym: "decreased urinary flow rate" EXACT [] synonym: "reduced urinary flow rate" EXACT [] synonym: "reduced urine flow rate" EXACT [] synonym: "reduction of urinary volume" EXACT [] is_a: MP:0001756 ! abnormal urination created_by: csmith creation_date: 2011-11-08T04:17:51Z [Term] id: MP:0011433 name: glomerular capillary congestion def: "obstruction of the normal flux of blood within the renal glomerular capillaries" [MGI:anna] synonym: "glomerular congestion" EXACT [] is_a: MP:0000532 ! kidney vascular congestion created_by: csmith creation_date: 2011-11-09T12:19:32Z [Term] id: MP:0011434 name: abnormal urine magnesium level def: "any change in the amount of magnesium in the urine" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-09T12:22:33Z [Term] id: MP:0011435 name: increased urine magnesium level def: "higher than normal amount of magnesium in the urine" [MGI:anna] synonym: "hypermagnesiuria" EXACT [] is_a: MP:0011434 ! abnormal urine magnesium level created_by: csmith creation_date: 2011-11-09T12:23:14Z [Term] id: MP:0011436 name: decreased urine magnesium level def: "lower than normal amount of magnesium in the urine" [MGI:anna] synonym: "hypomagnesiuria" EXACT [] is_a: MP:0011434 ! abnormal urine magnesium level created_by: csmith creation_date: 2011-11-09T12:23:14Z [Term] id: MP:0011437 name: glomerulus hemorrhage def: "bleeding in the renal glomerulus" [MGI:anna] synonym: "glomerular bleeding" EXACT [] synonym: "intraglomerular hemorrhage" EXACT [] is_a: MP:0000533 ! kidney hemorrhage created_by: csmith creation_date: 2011-11-09T12:42:10Z [Term] id: MP:0011438 name: absent kidney medulla def: "failure of the inner portion of the kidney, normally consisting of the renal pyramids, to form" [MGI:anna] synonym: "absent renal medulla" EXACT [] is_a: MP:0003014 ! abnormal kidney medulla morphology created_by: csmith creation_date: 2011-11-09T12:55:35Z [Term] id: MP:0011439 name: abnormal kidney cell proliferation def: "anomaly in the ability of any kidney cell population to undergo expansion by cell division" [MGI:anna] synonym: "abnormal renal cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0002136 ! abnormal kidney physiology created_by: csmith creation_date: 2011-11-09T12:57:24Z [Term] id: MP:0011440 name: increased kidney cell proliferation def: "increase in the expansion rate of any kidney cell population by cell division" [MGI:anna] synonym: "increased renal cell proliferation" EXACT [] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0011439 ! abnormal kidney cell proliferation created_by: csmith creation_date: 2011-11-09T12:58:22Z [Term] id: MP:0011441 name: decreased kidney cell proliferation def: "decrease in the expansion rate of any kidney cell population by cell division" [MGI:anna] synonym: "decreased renal cell proliferation" EXACT [] synonym: "reduced kidney cell proliferation" EXACT [] synonym: "reduced renal cell proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0011439 ! abnormal kidney cell proliferation created_by: csmith creation_date: 2011-11-09T12:58:22Z [Term] id: MP:0011442 name: abnormal renal sodium ion transport def: "any anomaly in the directed movement of sodium ions (Na+) by the kidney" [GO:0003096] is_a: MP:0011417 ! abnormal renal transport created_by: csmith creation_date: 2011-11-09T01:50:31Z [Term] id: MP:0011443 name: abnormal renal water transport def: "any anomaly in the directed movement of water (H2O) by the kidney" [GO:0003097] is_a: MP:0011417 ! abnormal renal transport is_a: MP:0011444 ! abnormal renal water homeostasis created_by: csmith creation_date: 2011-11-09T01:52:45Z [Term] id: MP:0011444 name: abnormal renal water homeostasis def: "any anomaly in the kidney processes involved in the maintenance of an internal steady state of water in the body" [GO:0003091] is_a: MP:0002136 ! abnormal kidney physiology created_by: csmith creation_date: 2011-11-09T01:54:30Z [Term] id: MP:0011445 name: abnormal renal protein reabsorption def: "any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron" [GO:0097017] synonym: "abnormal renal protein absorption" EXACT [] is_a: MP:0008469 ! abnormal protein level is_a: MP:0010107 ! abnormal renal reabsorbtion created_by: csmith creation_date: 2011-11-09T02:16:34Z [Term] id: MP:0011446 name: abnormal renal albumin reabsorption def: "any anomaly in the process in which albumin is taken up from the collecting ducts and proximal and distal loops of the nephron" [GO:0097018] synonym: "abnormal renal albumin absorption" EXACT [] is_a: MP:0011445 ! abnormal renal protein reabsorption created_by: csmith creation_date: 2011-11-09T02:16:34Z [Term] id: MP:0011447 name: abnormal renal glucose reabsorption def: "any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron" [GO:0035623] synonym: "abnormal nephron glucose absorption" EXACT [] synonym: "abnormal renal glucose absorption" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0010107 ! abnormal renal reabsorbtion created_by: csmith creation_date: 2011-11-09T02:16:34Z [Term] id: MP:0011448 name: decreased dopaminergic neuron number def: "fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter" [MGI:smb] synonym: "reduced dopaminergic neuron number" EXACT [] is_a: MP:0003243 ! abnormal dopaminergic neuron morphology is_a: MP:0008948 ! decreased neuron number created_by: csmith creation_date: 2011-11-09T04:05:37Z [Term] id: MP:0011449 name: increased dopaminergic neuron number def: "greater than normal numbers of the neurons that utilize dopamine as a neurotransmitter" [MGI:smb] is_a: MP:0003243 ! abnormal dopaminergic neuron morphology is_a: MP:0008947 ! increased neuron number created_by: csmith creation_date: 2011-11-09T04:05:37Z [Term] id: MP:0011450 name: ectopic dopaminergic neuron def: "abnormal location of one or more of the neurons that utilize dopamine as a neurotransmitter" [MGI:smb] synonym: "ectopic dopaminergic neurons" EXACT [] is_a: MP:0003243 ! abnormal dopaminergic neuron morphology created_by: csmith creation_date: 2011-11-09T04:05:37Z [Term] id: MP:0011451 name: increased susceptibility to dopaminergic neuron neurotoxicity def: "greater than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism" [MGI:csmith] synonym: "increased susceptibility to dopamine neuron neurotoxicity" EXACT [] is_a: MP:0008235 ! increased susceptibility to neuronal excitotoxicity created_by: csmith creation_date: 2011-11-09T04:09:40Z [Term] id: MP:0011452 name: decreased susceptibility to dopaminergic neuron neurotoxicity def: "less than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism" [MGI:csmith] synonym: "decreased susceptibility to dopamine neuron neurotoxicity" EXACT [] synonym: "reduced susceptibility to dopamine neuron neurotoxicity" EXACT [] synonym: "reduced susceptibility to dopaminergic neuron neurotoxicity" EXACT [] is_a: MP:0008236 ! decreased susceptibility to neuronal excitotoxicity created_by: csmith creation_date: 2011-11-09T04:10:54Z [Term] id: MP:0011453 name: abnormal glomerular capillary endothelium morphology def: "any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms" [MGI:anna] is_a: MP:0011320 ! abnormal glomerular capillary morphology created_by: csmith creation_date: 2011-11-10T02:54:02Z [Term] id: MP:0011454 name: abnormal glomerular endothelium fenestra morphology def: "any structural anomaly of the large plasma membrane-lined circular pores that perforate the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, are not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes" [MGI:anna] synonym: "abnormal glomerular endothelial fenestrae" EXACT [] synonym: "abnormal glomerular endothelial fenestrations" EXACT [] synonym: "abnormal glomerular fenestrae" EXACT [] is_a: MP:0011453 ! abnormal glomerular capillary endothelium morphology created_by: csmith creation_date: 2011-11-10T02:54:02Z [Term] id: MP:0011455 name: absent glomerular endothelium fenestra def: "absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria" [MGI:anna] synonym: "absent glomerular endothelial fenestrae" EXACT [] synonym: "absent glomerular endothelial fenestrations" EXACT [] synonym: "absent glomerular fenestrae" EXACT [] is_a: MP:0011454 ! abnormal glomerular endothelium fenestra morphology created_by: csmith creation_date: 2011-11-10T02:54:02Z [Term] id: MP:0011456 name: abnormal ureter ureteric bud development def: "any anomaly in the development of the elongated stalk of the ureteric bud that contributes to the morphogenesis of the ureter; the ureter ureteric bud is the initial structure that forms the ureter" [GO:0035503] synonym: "abnormal metanephric duct morphology" EXACT [] is_a: MP:0003672 ! abnormal ureter development is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-11-10T03:46:11Z [Term] id: MP:0011457 name: abnormal metanephric ureteric bud development def: "any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros" [GO:0035502] synonym: "abnormal metanephrogenic diverticulum" EXACT [] is_a: MP:0000527 ! abnormal kidney development is_a: MP:0006032 ! abnormal ureteric bud morphology created_by: csmith creation_date: 2011-11-10T03:50:18Z [Term] id: MP:0011458 name: abnormal urine chloride ion level def: "any change in the amount of chloride ion in the urine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-11T11:19:31Z [Term] id: MP:0011459 name: increased urine chloride ion level def: "abnormally large amounts of chloride ion in the urine" [MGI:csmith] synonym: "increased urinary chloride" EXACT [] is_a: MP:0011458 ! abnormal urine chloride ion level created_by: csmith creation_date: 2011-11-11T11:21:07Z [Term] id: MP:0011460 name: decreased urine chloride ion level def: "abnormally low amounts of chloride ion in the urine" [MGI:csmith] is_a: MP:0011458 ! abnormal urine chloride ion level created_by: csmith creation_date: 2011-11-11T11:21:07Z [Term] id: MP:0011461 name: abnormal urine bicarbonate level def: "any change in the amount of bicarbonate in the urine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-11T11:30:50Z [Term] id: MP:0011462 name: increased urine bicarbonate level def: "an increased amount of bicarbonate in the urine compared to the normal state" [MGI:csmith] synonym: "bicarbonaturia" EXACT [] is_a: MP:0011461 ! abnormal urine bicarbonate level created_by: csmith creation_date: 2011-11-11T11:30:50Z [Term] id: MP:0011463 name: decreased urine bicarbonate level def: "a reduced amount of bicarbonate in the urine compared to the normal state" [MGI:csmith] is_a: MP:0011461 ! abnormal urine bicarbonate level created_by: csmith creation_date: 2011-11-11T11:30:50Z [Term] id: MP:0011464 name: bilirubinuria def: "presence of conjugated bilirubin in the urine" [MGI:csmith] synonym: "urinary bilirubin" EXACT [] is_a: MP:0002962 ! increased urine protein level created_by: csmith creation_date: 2011-11-11T01:51:30Z [Term] id: MP:0011465 name: abnormal urine urea nitrogen level def: "any change in the amount of nitrogen in the form of urea in the urine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-11T03:01:04Z [Term] id: MP:0011466 name: increased urine urea nitrogen level def: "abnormally high amounts of nitrogen in the form of urea in the urine" [MGI:csmith] is_a: MP:0011465 ! abnormal urine urea nitrogen level created_by: csmith creation_date: 2011-11-11T03:08:15Z [Term] id: MP:0011467 name: decreased urine urea nitrogen level def: "abnormally low amounts of nitrogen in the form of urea in the urine" [MGI:csmith] is_a: MP:0011465 ! abnormal urine urea nitrogen level created_by: csmith creation_date: 2011-11-11T03:08:15Z [Term] id: MP:0011468 name: abnormal urine amino acid level def: "any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group" [CHEBI:33709, MGI:csmith] is_a: MP:0005332 ! abnormal amino acid level is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-15T10:00:07Z [Term] id: MP:0011469 name: abnormal urine creatinine level def: "any change in the amount of creatinine in the urine" [MGI:csmith] is_a: MP:0011468 ! abnormal urine amino acid level created_by: csmith creation_date: 2011-11-15T10:16:50Z [Term] id: MP:0011470 name: increased urine creatinine level def: "an increased amount of creatinine in the urine compared to the normal state" [MGI:csmith] is_a: MP:0011469 ! abnormal urine creatinine level created_by: csmith creation_date: 2011-11-15T10:18:40Z [Term] id: MP:0011471 name: decreased urine creatinine level def: "a reduced amount of creatinine in the urine compared to the normal state" [MGI:csmith] synonym: "reduced urine creatinine level" EXACT [] is_a: MP:0011469 ! abnormal urine creatinine level created_by: csmith creation_date: 2011-11-15T10:18:40Z [Term] id: MP:0011472 name: abnormal urine glycosaminoglycan level def: "any change in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit" [MGI:csmith] synonym: "abnormal urine GAG level" EXACT [] synonym: "abnormal urine mucopolysaccharide level" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis is_a: MP:0011475 ! abnormal glycosaminoglycan level created_by: csmith creation_date: 2011-11-15T10:23:57Z [Term] id: MP:0011473 name: increased urine glycosaminoglycan level def: "greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit" [MGI:csmith] synonym: "increased urine GAG level" EXACT [] synonym: "increased urine mucopolysaccharide level" EXACT [] synonym: "mucopolysacchariduria" EXACT [] is_a: MP:0011472 ! abnormal urine glycosaminoglycan level created_by: csmith creation_date: 2011-11-15T10:27:09Z [Term] id: MP:0011474 name: decreased urine glycosaminoglycan level def: "reduced amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit" [MGI:csmith] synonym: "decreased urine GAG level" EXACT [] synonym: "decreased urine mucopolysaccharide level" EXACT [] synonym: "reduced urine GAG level" EXACT [] synonym: "reduced urine glycosaminoglycan level" EXACT [] is_a: MP:0011472 ! abnormal urine glycosaminoglycan level created_by: csmith creation_date: 2011-11-15T10:27:09Z [Term] id: MP:0011475 name: abnormal glycosaminoglycan level def: "any change in the amount of glycosaminoglycan, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit" [MGI:csmith] synonym: "abnormal GAG level" EXACT [] synonym: "abnormal mucopolysaccharide level" EXACT [] is_a: MP:0001764 ! abnormal homeostasis created_by: csmith creation_date: 2011-11-15T11:11:41Z [Term] id: MP:0011476 name: abnormal urine nucleotide level def: "any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates)" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-15T02:05:08Z [Term] id: MP:0011477 name: abnormal urine nucleoside level def: "any change in the urinary level of glycosylamines consisting of a nucleobase bound to a ribose or deoxyribose sugar via a beta-glycosidic linkage, including cytidine, uridine, adenosine, guanosine, thymidine and inosine and deoxynucleosides" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-11-15T02:05:08Z [Term] id: MP:0011478 name: abnormal urine catecholamine level def: "any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine" [MGI:csmith] is_a: MP:0009643 ! abnormal urine homeostasis is_a: MP:0011479 ! abnormal catecholamine level created_by: csmith creation_date: 2011-11-15T02:26:09Z [Term] id: MP:0011479 name: abnormal catecholamine level def: "any anomaly in the amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine" [MGI:csmith] is_a: MP:0001764 ! abnormal homeostasis created_by: csmith creation_date: 2011-11-15T02:28:32Z [Term] id: MP:0011480 name: impaired ureteric peristalsis def: "any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder" [MGI:anna] synonym: "impaired ureteral peristalsis" EXACT [] is_a: MP:0003589 ! abnormal ureter physiology created_by: csmith creation_date: 2011-11-15T02:44:11Z [Term] id: MP:0011481 name: anterior iris synechia alt_id: MP:0006233 def: "adhesion of the iris to the cornea" [MGI:anna] synonym: "anterior synechia" EXACT [] synonym: "anterior synechiae" EXACT [] synonym: "corneal adhesion to iris" EXACT [] synonym: "irido-corneal adhesion" EXACT [] synonym: "irido-corneal synechia" EXACT [] synonym: "irido-corneal synechiae" EXACT [] synonym: "iridocorneal synechia" EXACT [] synonym: "iridocorneal synechiae" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology is_a: MP:0004222 ! iris synechia created_by: csmith creation_date: 2011-11-15T02:49:12Z [Term] id: MP:0011482 name: posterior iris synechia def: "adhesion of the iris to the capsule of the lens or to the surface of the vitreous body" [MGI:anna] synonym: "posterior iris synechiae" EXACT [] synonym: "posterior synechia" EXACT [] is_a: MP:0004222 ! iris synechia created_by: csmith creation_date: 2011-11-15T02:53:08Z [Term] id: MP:0011483 name: renal glomerular synechia def: "presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule" [MGI:anna] synonym: "Bowman's capsule adhesions" EXACT [] synonym: "glomerular synechiae" EXACT [] synonym: "glomerular to capsule adhesions" EXACT [] synonym: "glomerular tuft adhesions" EXACT [] synonym: "glomerular tuft synechia" EXACT [] synonym: "glomerular tuft synechiae" EXACT [] synonym: "glomerulo-capsular synechia" EXACT [] synonym: "glomerulo-capsular synechiae" EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-11-15T02:55:19Z [Term] id: MP:0011484 name: abnormal ureter urothelium morphology def: "any structural anomaly of the epithelial lining of the luminal space of the ureter" [MGI:csmith] is_a: MP:0000534 ! abnormal ureter morphology is_a: MP:0003630 ! abnormal urothelium morphology created_by: csmith creation_date: 2011-11-18T12:14:19Z [Term] id: MP:0011485 name: abnormal urethra urothelium morphology def: "any structural anomaly of the epithelial lining of the luminal space of the urethra" [MGI:csmith] is_a: MP:0000537 ! abnormal urethra morphology is_a: MP:0003630 ! abnormal urothelium morphology created_by: csmith creation_date: 2011-11-18T12:20:07Z [Term] id: MP:0011486 name: ectopic ureter def: "an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract" [MGI:anna] synonym: "ureteral ectopia" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology created_by: csmith creation_date: 2011-11-18T01:18:28Z [Term] id: MP:0011487 name: abnormal ureteropelvic junction morphology def: "any structural anomaly of the junction between the ureter and the renal pelvis of the kidney" [MGI:anna, MGI:csmith] synonym: "abnormal pelviureteric junction morphology" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology created_by: csmith creation_date: 2011-11-18T01:25:31Z [Term] id: MP:0011488 name: abnormal ureterovesical junction morphology def: "any structural anomaly of the valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney" [MGI:csmith] synonym: "abnormal vesicoureteral junction morphology" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology created_by: csmith creation_date: 2011-11-18T01:26:31Z [Term] id: MP:0011489 name: ureteropelvic junction atresia def: "congenital absence or closure of the connection between the ureter and the renal pelvis" [MGI:anna] synonym: "pelviureteric junction atresia" EXACT [] is_a: MP:0011487 ! abnormal ureteropelvic junction morphology created_by: csmith creation_date: 2011-11-18T01:29:17Z [Term] id: MP:0011490 name: ureteropelvic junction stenosis def: "a constriction or narrowing of the junction between the ureter and the renal pelvis" [MGI:anna] synonym: "pelviureteric junction stenosis" EXACT [] is_a: MP:0011487 ! abnormal ureteropelvic junction morphology created_by: csmith creation_date: 2011-11-18T01:29:17Z [Term] id: MP:0011491 name: ureteropelvic junction obstruction def: "a partial or total blockage of the flow of urine through the junction of the renal pelvis and the proximal ureter" [MGI:anna] synonym: "pelviureteric junction obstruction" EXACT [] is_a: MP:0011487 ! abnormal ureteropelvic junction morphology created_by: csmith creation_date: 2011-11-18T01:29:17Z [Term] id: MP:0011492 name: ureterovesical junction obstruction def: "a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder" [MGI:anna] synonym: "vesicoureteral junction obstruction" EXACT [] is_a: MP:0011488 ! abnormal ureterovesical junction morphology created_by: csmith creation_date: 2011-11-18T01:31:53Z [Term] id: MP:0011493 name: double ureter def: "two ureters open separately into the renal pelvis superiorly and drain separately into the urinary bladder or genital tract; if two ureteral buds arise from the Wolffian duct, a duplex kidney with complete ureteral duplication ensues" [http://emedicine.medscape.com/article/378075-overview, MGI:anna] synonym: "complete ureteral duplication" EXACT [] is_a: MP:0000534 ! abnormal ureter morphology created_by: csmith creation_date: 2011-11-18T01:43:54Z [Term] id: MP:0011494 name: abnormal pigmentation pattern def: "hair and/or skin coloration shows specific and consistent deviations from an expected display" [MGI:llw2] is_a: MP:0001186 ! pigmentation phenotype created_by: csmith creation_date: 2011-11-18T02:22:56Z [Term] id: MP:0011495 name: abnormal head shape def: "any anomaly in the characteristic surface outline or contour of a head of an organism" [MGI:csmith] is_a: MP:0000432 ! abnormal head morphology created_by: csmith creation_date: 2011-11-18T02:53:23Z [Term] id: MP:0011496 name: abnormal head size def: "anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell" [MGI:csmith] is_a: MP:0000432 ! abnormal head morphology created_by: csmith creation_date: 2011-11-18T02:56:49Z [Term] id: MP:0011497 name: abnormal glomerular capsule visceral layer morphology def: "any structural anomaly of the inner layer of the glomerular capsule surrounding the capillary endothelial cells and composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)" [MGI:anna] synonym: "abnormal Bowman's visceral epithelium morphology" EXACT [] synonym: "abnormal visceral epithelium of Bowman's capsule" EXACT [] synonym: "abnormal visceral layer of Bowman's capsule" EXACT [] synonym: "abnormal visceral layer of glomerular capsule" EXACT [] is_a: MP:0002828 ! abnormal renal glomerular capsule morphology created_by: csmith creation_date: 2011-11-22T01:49:15Z [Term] id: MP:0011498 name: abnormal glomerular capsule parietal layer morphology def: "any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium" [MGI:anna] synonym: "abnormal Bowman's parietal epithelium morphology" EXACT [] synonym: "abnormal parietal epithelium of Bowman's capsule" EXACT [] synonym: "abnormal parietal layer of Bowman's capsule" EXACT [] synonym: "abnormal parietal layer of glomerular capsule" EXACT [] is_a: MP:0002828 ! abnormal renal glomerular capsule morphology created_by: csmith creation_date: 2011-11-22T01:49:15Z [Term] id: MP:0011499 name: abnormal glomerular capsule space morphology def: "any structural anomaly of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries" [MGI:csmith] synonym: "abnormal Bowman's space morphology" EXACT [] synonym: "abnormal glomerular urinary space morphology" EXACT [] is_a: MP:0002828 ! abnormal renal glomerular capsule morphology created_by: csmith creation_date: 2011-11-22T01:49:15Z [Term] id: MP:0011500 name: decreased glomerular capsule space def: "reduced volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries" [MGI:csmith] synonym: "decreased Bowman's space" EXACT [] synonym: "decreased glomerular urinary space" EXACT [] synonym: "reduced Bowman's space" EXACT [] synonym: "reduced glomerular capsule space" EXACT [] synonym: "reduced glomerular urinary space" EXACT [] is_a: MP:0011499 ! abnormal glomerular capsule space morphology created_by: csmith creation_date: 2011-11-22T01:53:25Z [Term] id: MP:0011501 name: increased glomerular capsule space def: "increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries" [MGI:csmith] synonym: "dilated Bowman's space" RELATED [] synonym: "enlarged Bowman's space" EXACT [] synonym: "expansion of Bowman's space" EXACT [] synonym: "increased Bowman's space" EXACT [] synonym: "increased glomerular urinary space" EXACT [] is_a: MP:0011499 ! abnormal glomerular capsule space morphology created_by: csmith creation_date: 2011-11-22T02:05:15Z [Term] id: MP:0011502 name: parietal capsular epithelium metaplasia def: "a metaplastic change or transformation of the single layer of the parietal epithelium of Bowman's capsule from the normal structural appearance of simple squamous epithelium to a cuboidal or low columnar epithelium; also referred to as a prominent parietal epithelium" [MGI:anna] synonym: "cuboidal capsular metaplasia" EXACT [] synonym: "metaplasia of parietal Bowman's capsular epithelium" EXACT [] synonym: "metaplasia of parietal capsular epithelium" EXACT [] synonym: "metaplasia of the parietal layer of Bowman's capsule" EXACT [] synonym: "tubular metaplasia of Bowman's epithelium" EXACT [] is_a: MP:0011498 ! abnormal glomerular capsule parietal layer morphology created_by: csmith creation_date: 2011-11-22T02:19:44Z [Term] id: MP:0011503 name: distended jejunum def: "an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum" [MGI:anna] synonym: "dilated jejunum" EXACT [] synonym: "jejunal distension" EXACT [] synonym: "mega-jejunum" EXACT [] synonym: "swollen jejunum" EXACT [] is_a: MP:0004002 ! abnormal jejunum morphology created_by: csmith creation_date: 2011-11-22T03:14:15Z [Term] id: MP:0011504 name: abnormal limb long bone morphology def: "any structural anomaly of any of the several elongated bones of the extremities" [MGI:csmith] is_a: MP:0002115 ! abnormal limb bone morphology is_a: MP:0003723 ! abnormal long bone morphology created_by: csmith creation_date: 2011-12-01T02:34:16Z [Term] id: MP:0011505 name: camptomelia def: "a skeletal dysplasia characterized by the bending of the long bones of the extremities" [ISBN:0-683-40008-8] synonym: "campomelia" RELATED [] is_a: MP:0011504 ! abnormal limb long bone morphology created_by: csmith creation_date: 2011-12-01T02:38:20Z [Term] id: MP:0011506 name: glomerular crescent def: "formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman's capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman's space, and ultimately compress and destroy the glomerular tuft" [MGI:anna] is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-12-02T04:16:51Z [Term] id: MP:0011507 name: kidney thrombosis def: "formation or presence of a thrombus within the blood vessel network of the organ of secretion" [MGI:anna] synonym: "kidney thrombi" EXACT [] synonym: "renal thrombi" EXACT [] synonym: "renal thrombosis" EXACT [] is_a: MP:0000530 ! abnormal kidney blood vessel morphology is_a: MP:0005048 ! thrombosis created_by: csmith creation_date: 2011-12-02T04:18:56Z [Term] id: MP:0011508 name: glomerular capillary thrombosis def: "formation or presence of a thrombus within the renal glomerular capillaries" [MGI:anna] is_a: MP:0011320 ! abnormal glomerular capillary morphology is_a: MP:0011507 ! kidney thrombosis created_by: csmith creation_date: 2011-12-02T04:20:02Z [Term] id: MP:0011509 name: dilated glomerular capillary def: "stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole" [MGI:anna] synonym: "ballooned glomerulus capillary lumen" EXACT [] is_a: MP:0011320 ! abnormal glomerular capillary morphology created_by: csmith creation_date: 2011-12-02T04:23:54Z [Term] id: MP:0011510 name: biventricular, discordant atrioventricular connection alt_id: Fyler:0159 alt_id: Fyler:159 subset: CvDC_Terms is_a: MP:0010435 ! abnormal heart atrium and ventricle connection created_by: csmith creation_date: 2011-12-05T02:14:12Z [Term] id: MP:0011511 name: biventricular, ambiguous atrioventricular connection alt_id: Fyler:0160 alt_id: Fyler:160 subset: CvDC_Terms is_a: MP:0010435 ! abnormal heart atrium and ventricle connection created_by: csmith creation_date: 2011-12-05T02:14:34Z [Term] id: MP:0011512 name: mesangial cell interposition def: "spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM)" [MGI:anna] is_a: MP:0005327 ! abnormal mesangial cell morphology created_by: csmith creation_date: 2011-12-05T02:15:55Z [Term] id: MP:0011513 name: abnormal vertebral artery morphology def: "any structural anomaly of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [ISBN:0-683-40008-8] xref: MA:0002077 is_a: MP:0011655 ! abnormal systemic artery morphology created_by: csmith creation_date: 2011-12-08T03:02:10Z [Term] id: MP:0011514 name: skin hemorrhage def: "bleeding into the skin" [MGI:anna] synonym: "cutaneous bleeding" EXACT [] synonym: "cutaneous hemorrhage" EXACT [] is_a: MP:0001914 ! hemorrhage is_a: MP:0002060 ! abnormal skin morphology created_by: csmith creation_date: 2011-12-08T04:07:33Z [Term] id: MP:0011515 name: purpura def: "a smooth, moderately sized hemorrhagic area, typically dark red to reddish purple, resulting from extarvasation of blood into the skin, mucous membrane, or serosal surface; a pupura becomes brown-yellow as it fades and does not blanch on applying pressure" [MGI:anna] synonym: "purpurae" EXACT [] is_a: MP:0011514 ! skin hemorrhage created_by: csmith creation_date: 2011-12-08T04:09:08Z [Term] id: MP:0011516 name: aspartylglucosaminuria def: "high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome" [MGI:anna] synonym: "AGU" EXACT [] synonym: "aspartylglycosaminuria" EXACT [] is_a: MP:0003311 ! aminoaciduria created_by: csmith creation_date: 2011-12-08T04:14:45Z [Term] id: MP:0011517 name: hyperoxaluria def: "abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones" [MGI:anna] synonym: "oxaluria" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-12-08T04:18:31Z [Term] id: MP:0011518 name: abnormal cell chemotaxis def: "any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)" [GO:0060326] synonym: "abnormal directed cell migration" RELATED [] is_a: MP:0003091 ! abnormal cell migration created_by: csmith creation_date: 2011-12-09T01:53:06Z [Term] id: MP:0011519 name: abnormal placenta labyrinth size def: "anomaly in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith] is_a: MP:0001716 ! abnormal placenta labyrinth morphology created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011520 name: increased placental labyrinth size def: "increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith] synonym: "enlarged placental labyrinth" EXACT [] is_a: MP:0011519 ! abnormal placenta labyrinth size created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011521 name: decreased placental labyrinth size def: "reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith] synonym: "reduced placental labyrinth size" EXACT [] synonym: "small placental labyrinth" EXACT [] is_a: MP:0011519 ! abnormal placenta labyrinth size created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011522 name: abnormal placental labyrinth villi morphology def: "any structural anomaly of the vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation" [PMID:16916377] is_a: MP:0001716 ! abnormal placenta labyrinth morphology created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011523 name: thin placenta labyrinth def: "decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith] is_a: MP:0011521 ! decreased placental labyrinth size created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011524 name: thick placenta labyrinth def: "increase in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith] is_a: MP:0011520 ! increased placental labyrinth size created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011525 name: abnormal placenta intervillous maternal lacunae morphology def: "any structural anomaly of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project" [MGI:csmith] synonym: "abnormal maternal placental labyrinth lumen morphology" EXACT [] synonym: "abnormal placenta intervillous maternal space morphology" EXACT [] synonym: "abnormal placenta maternal blood lumen morphology" EXACT [] synonym: "abnormal placenta maternal blood space morphology" EXACT [] is_a: MP:0001716 ! abnormal placenta labyrinth morphology created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011526 name: abnormal placenta fetal blood space morphology def: "any structural anomaly of the spaces of the placenta occupied by fetal blood, primarily within the fetal labyrinth villi" [MGI:csmith] synonym: "abnormal placenta embryonic blood space morphology" RELATED [] is_a: MP:0001716 ! abnormal placenta labyrinth morphology created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011527 name: disorganized placental labyrinth def: "derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith] is_a: MP:0001716 ! abnormal placenta labyrinth morphology created_by: csmith creation_date: 2011-12-09T03:29:30Z [Term] id: MP:0011528 name: abnormal placental labyrinth villi branching morphogenesis def: "any anomaly in the process in which the branches of the fetal placental villi are generated and organized from the trophoblast-derived epithelium" [PMID:16916377] xref: GO:0060670 is_a: MP:0011522 ! abnormal placental labyrinth villi morphology created_by: csmith creation_date: 2011-12-09T03:29:53Z [Term] id: MP:0011529 name: increased placenta intervillous maternal lacunae size def: "increased size of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project" [MGI:csmith] synonym: "increased maternal placental labyrinth lumen size" EXACT [] synonym: "increased placenta intervillous maternal space size" EXACT [] synonym: "increased placenta maternal blood lumen size" EXACT [] synonym: "increased placenta maternal blood space size" EXACT [] is_a: MP:0011525 ! abnormal placenta intervillous maternal lacunae morphology created_by: csmith creation_date: 2011-12-09T03:57:36Z [Term] id: MP:0011530 name: fused radius and ulna def: "anomaly of the radius and ulna resulting in some portion of or all the two bones being merged together" [MGI:csmith] is_a: MP:0000552 ! abnormal radius morphology is_a: MP:0005108 ! abnormal ulna morphology created_by: csmith creation_date: 2011-12-12T10:36:21Z [Term] id: MP:0011531 name: abnormal syncytiotrophoblast morphology def: "any structural anomaly of the multi-nucleated, terminally differentiated syncytial epithelial layer of the placental villi that forms the major nutrient transport surfaces within the labyrinth layer of the rodent placenta" [ISBN-10:0521851653] synonym: "abnormal syncytial trophoblast morphology" EXACT [] is_a: MP:0005031 ! abnormal trophoblast layer morphology is_a: MP:0011522 ! abnormal placental labyrinth villi morphology created_by: csmith creation_date: 2011-12-12T01:15:58Z [Term] id: MP:0011532 name: decreased urine major urinary protein level def: "reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine" [MGI:csmith] synonym: "decreased urine MUP level" EXACT [] is_a: MP:0002963 ! decreased urine protein level created_by: csmith creation_date: 2011-12-13T09:51:24Z [Term] id: MP:0011533 name: increased urine major urinary protein level def: "increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine" [MGI:csmith] synonym: "increased urine MUP level" EXACT [] is_a: MP:0002962 ! increased urine protein level created_by: csmith creation_date: 2011-12-13T09:52:51Z [Term] id: MP:0011534 name: granular kidney def: "a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis" [MGI:anna] synonym: "sclerotic kidney" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology created_by: csmith creation_date: 2011-12-13T12:15:10Z [Term] id: MP:0011535 name: increased urination frequency def: "increased frequency of urination episodes; urination at short frequent intervals occurs without an increase in daily volume of urinary output and may be caused by reduced bladder capacity or urinary tract infection" [MGI:anna] comment: Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or\npollakiuria) is the correct term for increased frequency of urination. synonym: "decreased urine voiding intervals" EXACT [] synonym: "frequent urination" EXACT [] synonym: "increased number of micturition episodes" EXACT [] synonym: "increased urinary frequency" EXACT [] synonym: "pollachiuria" EXACT [] synonym: "pollacisuria" EXACT [] synonym: "pollakisuria" EXACT [] synonym: "pollakiuria" EXACT [] is_a: MP:0001761 ! abnormal urination pattern created_by: csmith creation_date: 2011-12-13T12:18:30Z [Term] id: MP:0011536 name: decreased urination frequency def: "decreased frequency of urination episodes; urination at long intervals occurs without an decrease in daily volume of urinary output" [MGI:anna] synonym: "decreased number of micturition episodes" EXACT [] synonym: "increased urine voiding intervals" EXACT [] synonym: "infrequent urination" EXACT [] synonym: "reduced urinary frequency" EXACT [] is_a: MP:0001761 ! abnormal urination pattern created_by: csmith creation_date: 2011-12-13T12:18:30Z [Term] id: MP:0011537 name: uraturia def: "passage of an increased amount of any salt or ester of uric acid (urate) in the urine" [MGI:anna] synonym: "increased urine urate level" EXACT [] is_a: MP:0009810 ! increased urine uric acid level created_by: csmith creation_date: 2011-12-16T09:54:36Z [Term] id: MP:0011538 name: abnormal urine hormone level def: "any change in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs" [MGI:anna] is_a: MP:0003953 ! abnormal hormone level is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-12-16T04:03:14Z [Term] id: MP:0011539 name: abnormal urine aldosterone level def: "any change in the urine amount of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule" [MGI:anna] is_a: MP:0011415 ! abnormal aldosterone level is_a: MP:0011538 ! abnormal urine hormone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011540 name: increased urine aldosterone level def: "an increased amount of aldosterone in the urine compared to the normal state" [MGI:anna] is_a: MP:0011539 ! abnormal urine aldosterone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011541 name: decreased urine aldosterone level def: "a reduced amount of aldosterone in the urine compared to the normal state" [MGI:anna] synonym: "reduced urine aldosterone level" EXACT [] is_a: MP:0011539 ! abnormal urine aldosterone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011542 name: abnormal urine antidiuretic hormone level def: "any change in the urine amount of the polypeptide hormone secreted by the posterior lobe of the pituitary gland (neurohypophysis) that increases mean arterial pressure by promoting vasoconstriction and reduces excretion of urine by increasing the reabsorption of water by the kidney tubules" [MGI:anna] synonym: "abnormal urine ADH level" EXACT [] synonym: "abnormal urine arginine vasopressin level" EXACT [] synonym: "abnormal urine argipressin level" EXACT [] synonym: "abnormal urine AVP level" EXACT [] synonym: "abnormal urine vasopressin level" EXACT [] is_a: MP:0011538 ! abnormal urine hormone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011543 name: increased urine antidiuretic hormone level def: "an increased amount of antidiuretic hormone in the urine compared to the normal state" [MGI:anna] synonym: "increased urine ADH level" EXACT [] synonym: "increased urine arginine vasopressin level" EXACT [] synonym: "increased urine argipressin level" EXACT [] synonym: "increased urine AVP level" EXACT [] synonym: "increased urine vasopressin level" EXACT [] is_a: MP:0011542 ! abnormal urine antidiuretic hormone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011544 name: decreased urine antidiuretic hormone level def: "a reduced amount of antidiuretic hormone in the urine compared to the normal state" [MGI:anna] synonym: "decreased urine ADH level" EXACT [] synonym: "decreased urine arginine vasopressin level" EXACT [] synonym: "decreased urine argipressin level" EXACT [] synonym: "decreased urine AVP level" EXACT [] synonym: "decreased urine vasopressin level" EXACT [] synonym: "reduced urine ADH level" EXACT [] synonym: "reduced urine arginine vasopressin level" EXACT [] synonym: "reduced urine argipressin level" EXACT [] synonym: "reduced urine AVP level" EXACT [] synonym: "reduced urine vasopressin level" EXACT [] is_a: MP:0011542 ! abnormal urine antidiuretic hormone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011545 name: abnormal urine progesterone level def: "any change in the urine amount of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy" [MGI:anna] synonym: "abnormal urine corpus luteum hormone level" EXACT [] synonym: "abnormal urine luteohormone level" EXACT [] synonym: "abnormal urine pregnancy hormone level" EXACT [] synonym: "abnormal urine progestational hormone level" EXACT [] is_a: MP:0011384 ! abnormal progesterone level is_a: MP:0011538 ! abnormal urine hormone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011546 name: increased urine progesterone level def: "an increased amount of progesterone in the urine compared to the normal state" [MGI:anna] synonym: "increased urine corpus luteum hormone level" EXACT [] synonym: "increased urine luteohormone level" EXACT [] synonym: "increased urine pregnancy hormone level" EXACT [] synonym: "increased urine progestational hormone level" EXACT [] is_a: MP:0011545 ! abnormal urine progesterone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011547 name: decreased urine progesterone level def: "a reduced amount of progesterone in the urine compared to the normal state" [MGI:anna] synonym: "decreased urine corpus luteum hormone level" EXACT [] synonym: "decreased urine luteohormone level" EXACT [] synonym: "decreased urine pregnancy hormone level" EXACT [] synonym: "decreased urine progestational hormone level" EXACT [] synonym: "reduced urine corpus luteum hormone level" EXACT [] synonym: "reduced urine luteohormone level" EXACT [] synonym: "reduced urine pregnancy hormone level" EXACT [] synonym: "reduced urine progestational hormone level" EXACT [] is_a: MP:0011545 ! abnormal urine progesterone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011548 name: abnormal urine corticosterone level def: "any change in the urine amount of the corticosteroid produced in the adrenal cortex that induces glycogen deposition and regulates sodium conservation and potassium secretion" [MGI:anna] is_a: MP:0003963 ! abnormal corticosterone level is_a: MP:0011538 ! abnormal urine hormone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011549 name: increased urine corticosterone level def: "an increased amount of corticosterone in the urine compared to the normal state" [MGI:anna] is_a: MP:0011548 ! abnormal urine corticosterone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011550 name: decreased urine corticosterone level def: "a reduced amount of corticosterone in the urine compared to the normal state" [MGI:anna] is_a: MP:0011548 ! abnormal urine corticosterone level created_by: csmith creation_date: 2011-12-16T04:03:29Z [Term] id: MP:0011551 name: variegated eye pigmentation pattern def: "an irregular and random patchwork of two or more colors in the eye" [MGI:llw2] is_a: MP:0001324 ! abnormal eye pigmentation created_by: csmith creation_date: 2011-12-16T04:10:18Z [Term] id: MP:0011552 name: abnormal urine deoxycorticosterone level def: "any change in the urine amount of the steroid hormone secreted by the adrenal cortex, related to corticosterone and involved in regulating water and electrolyte balance" [MGI:anna] synonym: "abnormal urine 11-deoxycorticosterone level" EXACT [] synonym: "abnormal urine 21-hydroxyprogesterone level " EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-12-20T04:01:30Z [Term] id: MP:0011553 name: increased urine deoxycorticosterone level def: "an increased amount of deoxycorticosterone in the urine compared to the normal state" [MGI:anna] synonym: "increased urine 11-deoxycorticosterone level" EXACT [] synonym: "increased urine 21-hydroxyprogesterone level" EXACT [] is_a: MP:0011552 ! abnormal urine deoxycorticosterone level created_by: csmith creation_date: 2011-12-20T04:01:30Z [Term] id: MP:0011554 name: decreased urine deoxycorticosterone level def: "a reduced amount of deoxycorticosterone in the urine compared to the normal state" [MGI:anna] synonym: "decreased urine 11-deoxycorticosterone level" EXACT [] synonym: "decreased urine 21-hydroxyprogesterone level" EXACT [] synonym: "reduced urine 11-deoxycorticosterone level" EXACT [] synonym: "reduced urine 21-hydroxyprogesterone level" EXACT [] is_a: MP:0011552 ! abnormal urine deoxycorticosterone level created_by: csmith creation_date: 2011-12-20T04:01:30Z [Term] id: MP:0011555 name: increased urine microglobulin level def: "greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine" [MGI:anna] synonym: "microglobulinuria" EXACT [] is_a: MP:0002962 ! increased urine protein level created_by: csmith creation_date: 2011-12-20T04:05:15Z [Term] id: MP:0011556 name: increased urine beta2-microglobulin level def: "greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma" [MGI:anna] is_a: MP:0011555 ! increased urine microglobulin level created_by: csmith creation_date: 2011-12-20T04:05:29Z [Term] id: MP:0011557 name: increased susceptibility to induced choroid neovascularization def: "increased rate or amount of new growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma)" [MGI:anna, MGI:mnk] synonym: "decreased resistance to induced choroidal neovascularization" EXACT [] is_a: MP:0005546 ! choroidal neovascularization created_by: csmith creation_date: 2011-12-20T04:12:10Z [Term] id: MP:0011558 name: abnormal urine insulin level def: "any change in the amount of insulin in the urine" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-12-20T04:15:31Z [Term] id: MP:0011559 name: increased urine insulin level def: "a greater amount of insulin in the urine compared to the normal state" [MGI:anna] is_a: MP:0011558 ! abnormal urine insulin level created_by: csmith creation_date: 2011-12-20T04:15:31Z [Term] id: MP:0011560 name: decreased urine insulin level def: "a reduced amount of insulin in the urine compared to the normal state" [MGI:anna] synonym: "reduced urine insulin level" EXACT [] is_a: MP:0011558 ! abnormal urine insulin level created_by: csmith creation_date: 2011-12-20T04:15:31Z [Term] id: MP:0011561 name: renal glomerulus lipidosis def: "presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts" [MGI:anna] synonym: "kidney glomerular lipidosis" EXACT [] synonym: "kidney glomerulus lipidosis" EXACT [] synonym: "renal glomerular lipidosis" EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2011-12-20T04:19:35Z [Term] id: MP:0011562 name: abnormal urine prostaglandin level def: "any change in the urinary amount of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation" [MGI:anna] is_a: MP:0009643 ! abnormal urine homeostasis created_by: csmith creation_date: 2011-12-20T04:21:52Z [Term] id: MP:0011563 name: increased urine prostaglandin level def: "a greater amount of any prostaglandin in the urine compared to the normal state" [MGI:anna] synonym: "hyperprostaglandinuria" EXACT [] is_a: MP:0011562 ! abnormal urine prostaglandin level created_by: csmith creation_date: 2011-12-20T04:21:52Z [Term] id: MP:0011564 name: decreased urine prostaglandin level def: "a reduced amount of any prostaglandin in the urine compared to the normal state" [MGI:anna] synonym: "reduced urine prostaglandin level" EXACT [] is_a: MP:0011562 ! abnormal urine prostaglandin level created_by: csmith creation_date: 2011-12-20T04:21:52Z [Term] id: MP:0011565 name: kidney papillary hypoplasia def: "underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx" [MGI:anna] synonym: "hypoplastic kidney papilla" EXACT [] synonym: "renal papillary hypoplasia" EXACT [] is_a: MP:0004193 ! abnormal kidney papilla morphology created_by: csmith creation_date: 2011-12-20T04:25:40Z [Term] id: MP:0011566 name: abnormal complement protein level def: "deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes" [MGI:csmith] is_a: MP:0002471 ! abnormal complement pathway is_a: MP:0008469 ! abnormal protein level created_by: csmith creation_date: 2012-01-12T01:39:01Z [Term] id: MP:0011567 name: increased renal glomerulus lobularity def: "distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance" [MGI:anna] synonym: "accentuated glomerular lobulation" EXACT [] synonym: "hyperlobular glomeruli" EXACT [] synonym: "hypersegmented glomeruli" EXACT [] synonym: "increased renal glomerular lobularity" EXACT [] synonym: "lobulated glomeruli" EXACT [] synonym: "lobulation of the glomerular tuft" EXACT [] is_a: MP:0005325 ! abnormal renal glomerulus morphology created_by: csmith creation_date: 2012-01-12T01:43:44Z [Term] id: MP:0011568 name: decreased foot pigmentation def: "visually detectable dilution of pigment present on the foot surface" [MGI:csmith] is_a: MP:0005408 ! hypopigmentation is_a: MP:0009379 ! abnormal foot pigmentation created_by: csmith creation_date: 2012-01-12T01:47:07Z [Term] id: MP:0011569 name: abnormal azygos vein morphology def: "any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava" [MGI:anna] synonym: "abnormal vena azygos morphology" EXACT [] is_a: MP:0002725 ! abnormal vein morphology created_by: csmith creation_date: 2012-01-12T02:14:19Z [Term] id: MP:0011570 name: esophageal achalasia def: "failure of the normal relaxation of the lower esophageal sphincter associated with the uncoordinated contractions of the thoracic esophagus, resulting in functional obstruction" [ISBN:0-683-40008-8] synonym: "achalasia of the cardia" EXACT [] synonym: "cardiospasm" NARROW [] is_a: MP:0004108 ! abnormal esophageal peristalsis is_a: MP:0010154 ! abnormal gastroesophageal sphincter physiology created_by: csmith creation_date: 2012-01-18T10:35:52Z [Term] id: MP:0011571 name: enlarged inferior vena cava valve alt_id: Fyler:2852 def: "increased size of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "enlarged Eustachian valve" EXACT [] synonym: "enlarged sylvian valve" EXACT [] synonym: "increased Eustachian valve size" EXACT [] synonym: "increased inferior vena cava valve size" EXACT [] synonym: "increased sylvian valve size" EXACT [] is_a: MP:0010490 ! abnormal inferior vena cava valve morphology created_by: csmith creation_date: 2012-01-24T02:49:24Z [Term] id: MP:0011572 name: abnormal aorta bulb morphology def: "any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles" [MGI:csmith, PMID:10722531] synonym: "abnormal aortic bulb morphology" EXACT [] synonym: "abnormal aortic root morphology" EXACT [] synonym: "abnormal bulb of aorta morphology" EXACT [] synonym: "abnormal bulb of ascending aorta morphology" EXACT [] synonym: "abnormal root of aorta morphology" EXACT [] synonym: "abnormal supraaortic valve area morphology" EXACT [] xref: FMA:3740 is_a: MP:0009867 ! abnormal ascending aorta morphology created_by: csmith creation_date: 2012-01-25T10:18:56Z [Term] id: MP:0011573 name: abnormal sinotubular junction morphology def: "any structural anomaly of the point in the ascending aorta where the aortic sinuses end and the aorta becomes a tubular structure" [MGI:csmith] synonym: "abnormal sinotubular ridge morphology" EXACT [] is_a: MP:0009867 ! abnormal ascending aorta morphology created_by: csmith creation_date: 2012-01-25T10:24:17Z [Term] id: MP:0011574 name: dilated sinotubular junction def: "the luminal space of the sinotubular junction is increased in diameter or area" [MGI:csmith] synonym: "dilated sinotubular ridge" EXACT [] is_a: MP:0011573 ! abnormal sinotubular junction morphology created_by: csmith creation_date: 2012-01-25T10:27:10Z [Term] id: MP:0011575 name: dilated aorta bulb def: "the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] synonym: "dilated aortic bulb" EXACT [] synonym: "dilated aortic root" EXACT [] synonym: "dilated bulb of aorta" EXACT [] synonym: "dilated root of aorta" EXACT [] is_a: MP:0011572 ! abnormal aorta bulb morphology created_by: csmith creation_date: 2012-01-25T11:38:04Z [Term] id: MP:0011576 name: absent cervical atlas def: "absence of the first (topmost, C1) cervical vertebra which supports the globe of the head" [MGI:anna] synonym: "absent C1 vertebra" EXACT [] is_a: MP:0004607 ! abnormal cervical atlas morphology created_by: csmith creation_date: 2012-01-25T03:01:53Z [Term] id: MP:0011577 name: abnormal lipoprotein lipase activity def: "anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate" [GO:0004806] synonym: "abnormal clearing factor lipase activity" EXACT [] synonym: "abnormal diacylglycerol hydrolase activity" EXACT [] synonym: "abnormal diacylglycerol lipase activity" EXACT [] synonym: "abnormal diglyceride lipase activity" EXACT [] synonym: "abnormal lipemia-clearing factor" EXACT [] synonym: "abnormal postheparin esterase activity" EXACT [] synonym: "abnormal postheparin lipase activity" EXACT [] synonym: "abnormal triacylglycero-protein acylhydrolase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-25T03:27:41Z [Term] id: MP:0011578 name: increased lipoprotein lipase activity def: "greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate" [GO:0004465] synonym: "increased clearing factor lipase activity" EXACT [] synonym: "increased diacylglycerol hydrolase activity" EXACT [] synonym: "increased diacylglycerol lipase activity" EXACT [] synonym: "increased diglyceride lipase activity" EXACT [] synonym: "increased lipemia-clearing factor" EXACT [] synonym: "increased postheparin esterase activity" EXACT [] synonym: "increased postheparin lipase activity" EXACT [] synonym: "increased triacylglycero-protein acylhydrolase activity" EXACT [] is_a: MP:0011577 ! abnormal lipoprotein lipase activity created_by: csmith creation_date: 2012-01-25T03:27:41Z [Term] id: MP:0011579 name: decreased lipoprotein lipase activity def: "reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate" [GO:0004465] synonym: "decreased clearing factor lipase activity" EXACT [] synonym: "decreased diacylglycerol hydrolase activity" EXACT [] synonym: "decreased diacylglycerol lipase activity" EXACT [] synonym: "decreased diglyceride lipase activity" EXACT [] synonym: "decreased lipemia-clearing factor" EXACT [] synonym: "decreased postheparin esterase activity" EXACT [] synonym: "decreased postheparin lipase activity" EXACT [] synonym: "decreased triacylglycero-protein acylhydrolase activity" EXACT [] is_a: MP:0011577 ! abnormal lipoprotein lipase activity created_by: csmith creation_date: 2012-01-25T03:27:41Z [Term] id: MP:0011580 name: abnormal triglyceride lipase activity def: "anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion" [GO:0004806] synonym: "abnormal butyrinase activity" EXACT [] synonym: "abnormal cacordase activity" EXACT [] synonym: "abnormal capalase L" EXACT [] synonym: "abnormal glycerol ester hydrolase activity" EXACT [] synonym: "abnormal glycerol-ester hydrolase activity" EXACT [] synonym: "abnormal heparin releasable hepatic lipase" EXACT [] synonym: "abnormal hepatic lipase" EXACT [] synonym: "abnormal hepatic monoacylglycerol acyltransferase" EXACT [] synonym: "abnormal lipazin" EXACT [] synonym: "abnormal liver lipase" EXACT [] synonym: "abnormal post-heparin plasma protamine-resistant lipase" EXACT [] synonym: "abnormal PPL" EXACT [] synonym: "abnormal salt-resistant post-heparin lipase" EXACT [] synonym: "abnormal triacetinase activity" EXACT [] synonym: "abnormal triacylglycerol acylhydrolase activity" EXACT [] synonym: "abnormal triacylglycerol ester hydrolase activity" EXACT [] synonym: "abnormal triacylglycerol lipase activity" EXACT [] synonym: "abnormal tributyrase activity" EXACT [] synonym: "abnormal tributyrin esterase activity" EXACT [] synonym: "abnormal tributyrinase activity" EXACT [] synonym: "abnormal triglyceridase activity" EXACT [] synonym: "abnormal triglyceride hydrolase activity" EXACT [] synonym: "abnormal triolein hydrolase activity" EXACT [] synonym: "abnormal tween hydrolase activity" EXACT [] synonym: "abnormal tween-hydrolyzing esterase activity" EXACT [] synonym: "abnormal tweenase activity" EXACT [] synonym: "abnormal tweenesterase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-25T03:27:41Z [Term] id: MP:0011581 name: increased triglyceride lipase activity def: "greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion" [GO:0004806] synonym: "increased butyrinase activity" EXACT [] synonym: "increased cacordase activity" EXACT [] synonym: "increased capalase L" EXACT [] synonym: "increased glycerol ester hydrolase activity" EXACT [] synonym: "increased glycerol-ester hydrolase activity" EXACT [] synonym: "increased heparin releasable hepatic lipase" EXACT [] synonym: "increased hepatic lipase" EXACT [] synonym: "increased hepatic monoacylglycerol acyltransferase" EXACT [] synonym: "increased lipazin" EXACT [] synonym: "increased liver lipase" EXACT [] synonym: "increased post-heparin plasma protamine-resistant lipase" EXACT [] synonym: "increased PPL" EXACT [] synonym: "increased salt-resistant post-heparin lipase" EXACT [] synonym: "increased triacetinase activity" EXACT [] synonym: "increased triacylglycerol acylhydrolase activity" EXACT [] synonym: "increased triacylglycerol ester hydrolase activity" EXACT [] synonym: "increased triacylglycerol lipase activity" EXACT [] synonym: "increased tributyrase activity" EXACT [] synonym: "increased tributyrin esterase activity" EXACT [] synonym: "increased tributyrinase activity" EXACT [] synonym: "increased triglyceridase activity" EXACT [] synonym: "increased triglyceride hydrolase activity" EXACT [] synonym: "increased triolein hydrolase activity" EXACT [] synonym: "increased tween hydrolase activity" EXACT [] synonym: "increased tween-hydrolyzing esterase activity" EXACT [] synonym: "increased tweenase activity" EXACT [] synonym: "increased tweenesterase activity" EXACT [] is_a: MP:0011580 ! abnormal triglyceride lipase activity created_by: csmith creation_date: 2012-01-25T03:27:41Z [Term] id: MP:0011582 name: decreased triglyceride lipase activity def: "reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion" [GO:0004806] synonym: "decreased butyrinase activity" EXACT [] synonym: "decreased cacordase activity" EXACT [] synonym: "decreased capalase L" EXACT [] synonym: "decreased glycerol ester hydrolase activity" EXACT [] synonym: "decreased glycerol-ester hydrolase activity" EXACT [] synonym: "decreased heparin releasable hepatic lipase" EXACT [] synonym: "decreased hepatic lipase" EXACT [] synonym: "decreased hepatic monoacylglycerol acyltransferase" EXACT [] synonym: "decreased lipazin" EXACT [] synonym: "decreased liver lipase" EXACT [] synonym: "decreased post-heparin plasma protamine-resistant lipase" EXACT [] synonym: "decreased PPL" EXACT [] synonym: "decreased salt-resistant post-heparin lipase" EXACT [] synonym: "decreased triacetinase activity" EXACT [] synonym: "decreased triacylglycerol acylhydrolase activity" EXACT [] synonym: "decreased triacylglycerol ester hydrolase activity" EXACT [] synonym: "decreased triacylglycerol lipase activity" EXACT [] synonym: "decreased tributyrase activity" EXACT [] synonym: "decreased tributyrin esterase activity" EXACT [] synonym: "decreased tributyrinase activity" EXACT [] synonym: "decreased triglyceridase activity" EXACT [] synonym: "decreased triglyceride hydrolase activity" EXACT [] synonym: "decreased triolein hydrolase activity" EXACT [] synonym: "decreased tween hydrolase activity" EXACT [] synonym: "decreased tween-hydrolyzing esterase activity" EXACT [] synonym: "decreased tweenase activity" EXACT [] synonym: "decreased tweenesterase activity" EXACT [] is_a: MP:0011580 ! abnormal triglyceride lipase activity created_by: csmith creation_date: 2012-01-25T03:27:41Z [Term] id: MP:0011583 name: abnormal alkaline phosphatase activity def: "anomaly in the ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum" [GO:0004035] synonym: "abnormal alkaline phenyl phosphatase activity" EXACT [] synonym: "abnormal alkaline phosphohydrolase activity" EXACT [] synonym: "abnormal alkaline phosphomonoesterase activity" EXACT [] synonym: "abnormal glycerophosphatase activity" EXACT [] synonym: "abnormal orthophosphoric-monoester phosphohydrolase (alkaline optimum)" EXACT [] synonym: "abnormal phosphate-monoester phosphohydrolase (alkaline optimum)" EXACT [] synonym: "abnormal phosphomonoesterase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-25T03:50:01Z [Term] id: MP:0011584 name: increased alkaline phosphatase activity def: "greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum" [GO:0004035] synonym: "increased alkaline phenyl phosphatase activity" EXACT [] synonym: "increased alkaline phosphohydrolase activity" EXACT [] synonym: "increased alkaline phosphomonoesterase activity" EXACT [] synonym: "increased glycerophosphatase activity" EXACT [] synonym: "increased orthophosphoric-monoester phosphohydrolase (alkaline optimum)" EXACT [] synonym: "increased phosphate-monoester phosphohydrolase (alkaline optimum)" EXACT [] synonym: "increased phosphomonoesterase activity" EXACT [] is_a: MP:0011583 ! abnormal alkaline phosphatase activity created_by: csmith creation_date: 2012-01-25T03:51:35Z [Term] id: MP:0011585 name: decreased alkaline phosphatase activity def: "reduced ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum" [GO:0004035] synonym: "decreased alkaline phenyl phosphatase activity" EXACT [] synonym: "decreased alkaline phosphohydrolase activity" EXACT [] synonym: "decreased alkaline phosphomonoesterase activity" EXACT [] synonym: "decreased glycerophosphatase activity" EXACT [] synonym: "decreased orthophosphoric-monoester phosphohydrolase (alkaline optimum)" EXACT [] synonym: "decreased phosphate-monoester phosphohydrolase (alkaline optimum)" EXACT [] synonym: "decreased phosphomonoesterase activity" EXACT [] is_a: MP:0011583 ! abnormal alkaline phosphatase activity created_by: csmith creation_date: 2012-01-25T03:51:35Z [Term] id: MP:0011586 name: abnormal ornithine carbamoyltransferase activity def: "anomaly in the ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline" [GO:0004585] synonym: "abnormal carbamoyl-phosphate:L-ornithine carbamoyltransferase activity" EXACT [] synonym: "abnormal carbamylphosphate-ornithine transcarbamylase activity" EXACT [] synonym: "abnormal citrulline phosphorylase activity" EXACT [] synonym: "abnormal L-ornithine carbamoyltransferase activity" EXACT [] synonym: "abnormal L-ornithine carbamyltransferase activity" EXACT [] synonym: "abnormal L-ornithine transcarbamylase activity" EXACT [] synonym: "abnormal ornithine carbamyltransferase activity" EXACT [] synonym: "abnormal ornithine transcarbamylase activity" EXACT [] synonym: "abnormal OTC activity" EXACT [] synonym: "abnormal OTCase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-25T04:00:56Z [Term] id: MP:0011587 name: increased ornithine carbamoyltransferase activity def: "greater ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline" [GO:0004585] synonym: "increased carbamoyl-phosphate:L-ornithine carbamoyltransferase activity" EXACT [] synonym: "increased carbamylphosphate-ornithine transcarbamylase activity" EXACT [] synonym: "increased citrulline phosphorylase activity" EXACT [] synonym: "increased L-ornithine carbamoyltransferase activity" EXACT [] synonym: "increased L-ornithine carbamyltransferase activity" EXACT [] synonym: "increased L-ornithine transcarbamylase activity" EXACT [] synonym: "increased ornithine carbamyltransferase activity" EXACT [] synonym: "increased ornithine transcarbamylase activity" EXACT [] synonym: "increased OTC activity" EXACT [] synonym: "increased OTCase activity" EXACT [] is_a: MP:0011586 ! abnormal ornithine carbamoyltransferase activity created_by: csmith creation_date: 2012-01-25T04:00:56Z [Term] id: MP:0011588 name: decreased ornithine carbamoyltransferase activity def: "reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline" [GO:0004585] synonym: "decreased carbamoyl-phosphate:L-ornithine carbamoyltransferase activity" EXACT [] synonym: "decreased carbamylphosphate-ornithine transcarbamylase activity" EXACT [] synonym: "decreased citrulline phosphorylase activity" EXACT [] synonym: "decreased L-ornithine carbamoyltransferase activity" EXACT [] synonym: "decreased L-ornithine carbamyltransferase activity" EXACT [] synonym: "decreased L-ornithine transcarbamylase activity" EXACT [] synonym: "decreased ornithine carbamyltransferase activity" EXACT [] synonym: "decreased ornithine transcarbamylase activity" EXACT [] synonym: "decreased OTC activity" EXACT [] synonym: "decreased OTCase activity" EXACT [] is_a: MP:0011586 ! abnormal ornithine carbamoyltransferase activity created_by: csmith creation_date: 2012-01-25T04:00:56Z [Term] id: MP:0011589 name: abnormal hormone-sensitive lipase activity def: "anomaly in the ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate" [GO:0033878] synonym: "abnormal diacylglycerol acylhydrolase activity" EXACT [] synonym: "abnormal HSL" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011590 name: increased hormone-sensitive lipase activity def: "greater ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate" [GO:0033878] synonym: "increased diacylglycerol acylhydrolase activity" EXACT [] synonym: "increased HSL" EXACT [] is_a: MP:0011589 ! abnormal hormone-sensitive lipase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011591 name: decreased hormone-sensitive lipase activity def: "reduced ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate" [GO:0033878] synonym: "decreased diacylglycerol acylhydrolase activity" EXACT [] synonym: "decreased HSL" EXACT [] is_a: MP:0011589 ! abnormal hormone-sensitive lipase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011592 name: abnormal catalase activity def: "anomaly in the ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O" [GO:0004096] synonym: "abnormal bacterial catalase-peroxidase activity" EXACT [] synonym: "abnormal caperase activity" EXACT [] synonym: "abnormal CAT" EXACT [] synonym: "abnormal catalase reaction" EXACT [] synonym: "abnormal catalase-peroxidase activity" EXACT [] synonym: "abnormal equilase activity" EXACT [] synonym: "abnormal haem catalase activity" EXACT [] synonym: "abnormal heme catalase activity" EXACT [] synonym: "abnormal hydrogen-peroxide:hydrogen-peroxide oxidoreductase activity" EXACT [] synonym: "abnormal manganese catalase activity" EXACT [] synonym: "abnormal optidase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011593 name: increased catalase activity def: "greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O" [GO:0004096] synonym: "increased bacterial catalase-peroxidase activity" EXACT [] synonym: "increased caperase activity" EXACT [] synonym: "increased CAT" EXACT [] synonym: "increased catalase reaction" EXACT [] synonym: "increased catalase-peroxidase activity" EXACT [] synonym: "increased equilase activity" EXACT [] synonym: "increased haem catalase activity" EXACT [] synonym: "increased heme catalase activity" EXACT [] synonym: "increased hydrogen-peroxide:hydrogen-peroxide oxidoreductase activity" EXACT [] synonym: "increased manganese catalase activity" EXACT [] synonym: "increased optidase activity" EXACT [] is_a: MP:0011592 ! abnormal catalase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011594 name: decreased catalase activity def: "reduced ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O" [GO:0004096] synonym: "decreased bacterial catalase-peroxidase activity" EXACT [] synonym: "decreased caperase activity" EXACT [] synonym: "decreased CAT" EXACT [] synonym: "decreased catalase reaction" EXACT [] synonym: "decreased catalase-peroxidase activity" EXACT [] synonym: "decreased equilase activity" EXACT [] synonym: "decreased haem catalase activity" EXACT [] synonym: "decreased heme catalase activity" EXACT [] synonym: "decreased hydrogen-peroxide:hydrogen-peroxide oxidoreductase activity" EXACT [] synonym: "decreased manganese catalase activity" EXACT [] synonym: "decreased optidase activity" EXACT [] is_a: MP:0011592 ! abnormal catalase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011595 name: abnormal purine-nucleoside phosphorylase activity def: "anomaly in the ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate" [GO:0004731] synonym: "abnormal inosine phosphorylase activity" EXACT [] synonym: "abnormal inosine-guanosine phosphorylase activity" EXACT [] synonym: "abnormal PNPase activity" EXACT [] synonym: "abnormal PUNPI" EXACT [] synonym: "abnormal PUNPII" EXACT [] synonym: "abnormal purine deoxynucleoside phosphorylase activity" EXACT [] synonym: "abnormal purine deoxyribonucleoside phosphorylase activity" EXACT [] synonym: "abnormal purine nucleoside phosphorylase activity" EXACT [] synonym: "abnormal purine ribonucleoside phosphorylase activity" EXACT [] synonym: "abnormal purine-nucleoside:phosphate ribosyltransferase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011596 name: increased purine-nucleoside phosphorylase activity def: "greater ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate" [GO:0004731] synonym: "increased inosine phosphorylase activity" EXACT [] synonym: "increased inosine-guanosine phosphorylase activity" EXACT [] synonym: "increased PNPase activity" EXACT [] synonym: "increased PUNPI" EXACT [] synonym: "increased PUNPII" EXACT [] synonym: "increased purine deoxynucleoside phosphorylase activity" EXACT [] synonym: "increased purine deoxyribonucleoside phosphorylase activity" EXACT [] synonym: "increased purine nucleoside phosphorylase activity" EXACT [] synonym: "increased purine ribonucleoside phosphorylase activity" EXACT [] synonym: "increased purine-nucleoside:phosphate ribosyltransferase activity" EXACT [] is_a: MP:0011595 ! abnormal purine-nucleoside phosphorylase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011597 name: decreased purine-nucleoside phosphorylase activity def: "reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate" [GO:0004607] synonym: "decreased inosine phosphorylase activity" EXACT [] synonym: "decreased inosine-guanosine phosphorylase activity" EXACT [] synonym: "decreased PNPase activity" EXACT [] synonym: "decreased PUNPI" EXACT [] synonym: "decreased PUNPII" EXACT [] synonym: "decreased purine deoxynucleoside phosphorylase activity" EXACT [] synonym: "decreased purine deoxyribonucleoside phosphorylase activity" EXACT [] synonym: "decreased purine nucleoside phosphorylase activity" EXACT [] synonym: "decreased purine ribonucleoside phosphorylase activity" EXACT [] synonym: "decreased purine-nucleoside:phosphate ribosyltransferase activity" EXACT [] is_a: MP:0011595 ! abnormal purine-nucleoside phosphorylase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011598 name: abnormal phosphatidylcholine-sterol O-acyltransferase activity def: "anomaly in the ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine" [GO:0004731] synonym: "abnormal LCAT (lecithin-cholesterol acyltransferase)" EXACT [] synonym: "abnormal LCAT activity" EXACT [] synonym: "abnormal lecithin--cholesterol acyltransferase activity" EXACT [] synonym: "abnormal lecithin-cholesterol acyltransferase activity" EXACT [] synonym: "abnormal lecithin:cholesterol acyltransferase activity" EXACT [] synonym: "abnormal phosphatidylcholine:sterol O-acyltransferase activity" EXACT [] synonym: "abnormal phospholipid--cholesterol acyltransferase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011599 name: increased phosphatidylcholine-sterol O-acyltransferase activity def: "greater ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine" [GO:0004731] synonym: "increased LCAT (lecithin-cholesterol acyltransferase)" EXACT [] synonym: "increased LCAT activity" EXACT [] synonym: "increased lecithin--cholesterol acyltransferase activity" EXACT [] synonym: "increased lecithin-cholesterol acyltransferase activity" EXACT [] synonym: "increased lecithin:cholesterol acyltransferase activity" EXACT [] synonym: "increased phosphatidylcholine:sterol O-acyltransferase activity" EXACT [] synonym: "increased phospholipid--cholesterol acyltransferase activity" EXACT [] is_a: MP:0011598 ! abnormal phosphatidylcholine-sterol O-acyltransferase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011600 name: decreased phosphatidylcholine-sterol O-acyltransferase activity def: "reduced ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine" [GO:0004731] synonym: "decreased LCAT (lecithin-cholesterol acyltransferase)" EXACT [] synonym: "decreased LCAT activity" EXACT [] synonym: "decreased lecithin--cholesterol acyltransferase activity" EXACT [] synonym: "decreased lecithin-cholesterol acyltransferase activity" EXACT [] synonym: "decreased lecithin:cholesterol acyltransferase activity" EXACT [] synonym: "decreased phosphatidylcholine:sterol O-acyltransferase activity" EXACT [] synonym: "decreased phospholipid--cholesterol acyltransferase activity" EXACT [] is_a: MP:0011598 ! abnormal phosphatidylcholine-sterol O-acyltransferase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011601 name: abnormal glutathione peroxidase activity def: "anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O" [GO:0004602] synonym: "abnormal glutathione:hydrogen-peroxide oxidoreductase activity" EXACT [] synonym: "abnormal GSH peroxidase activity" EXACT [] synonym: "abnormal non-selenium glutathione peroxidase activity" EXACT [] synonym: "abnormal reduced glutathione peroxidase activity" EXACT [] synonym: "abnormal selenium-glutathione peroxidase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011602 name: increased glutathione peroxidase activity def: "greater ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O" [GO:0004602] synonym: "increased glutathione:hydrogen-peroxide oxidoreductase activity" EXACT [] synonym: "increased GSH peroxidase activity" EXACT [] synonym: "increased non-selenium glutathione peroxidase activity" EXACT [] synonym: "increased reduced glutathione peroxidase activity" EXACT [] synonym: "increased selenium-glutathione peroxidase activity" EXACT [] is_a: MP:0011601 ! abnormal glutathione peroxidase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011603 name: decreased glutathione peroxidase activity def: "reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O" [GO:0004602] synonym: "decreased glutathione:hydrogen-peroxide oxidoreductase activity" EXACT [] synonym: "decreased GSH peroxidase activity" EXACT [] synonym: "decreased non-selenium glutathione peroxidase activity" EXACT [] synonym: "decreased reduced glutathione peroxidase activity" EXACT [] synonym: "decreased selenium-glutathione peroxidase activity" EXACT [] is_a: MP:0011601 ! abnormal glutathione peroxidase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011604 name: abnormal glucokinase activity def: "anomaly in the ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate" [GO:0004340] synonym: "abnormal ATP:D-glucose 6-phosphotransferase activity" EXACT [] synonym: "abnormal glucokinase (phosphorylating)" EXACT [] synonym: "abnormal glucose kinase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011605 name: increased glucokinase activity def: "greater ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate" [GO:0004340] synonym: "increased ATP:D-glucose 6-phosphotransferase activity" EXACT [] synonym: "increased glucokinase (phosphorylating)" EXACT [] synonym: "increased glucose kinase activity" EXACT [] is_a: MP:0011604 ! abnormal glucokinase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011606 name: decreased glucokinase activity def: "reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate" [GO:0004340] synonym: "decreased ATP:D-glucose 6-phosphotransferase activity" EXACT [] synonym: "decreased glucokinase (phosphorylating)" EXACT [] synonym: "decreased glucose kinase activity" EXACT [] is_a: MP:0011604 ! abnormal glucokinase activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011607 name: abnormal glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity def: "anomaly in the ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+" [GO:0004365] synonym: "abnormal 3-phosphoglyceraldehyde dehydrogenase activity" EXACT [] synonym: "abnormal D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating)" EXACT [] synonym: "abnormal dehydrogenase, glyceraldehyde phosphate" EXACT [] synonym: "abnormal GAPDH activity" EXACT [] synonym: "abnormal glyceraldehyde phosphate dehydrogenase (NAD)" EXACT [] synonym: "abnormal glyceraldehyde-3-P-dehydrogenase activity" EXACT [] synonym: "abnormal NAD-dependent glyceraldehyde phosphate dehydrogenase activity" EXACT [] synonym: "abnormal NAD-dependent glyceraldehyde-3-phosphate dehydrogenase activity" EXACT [] synonym: "abnormal NADH-glyceraldehyde phosphate dehydrogenase activity" EXACT [] synonym: "abnormal phosphoglyceraldehyde dehydrogenase activity" EXACT [] synonym: "abnormal triosephosphate dehydrogenase activity" EXACT [] is_a: MP:0005584 ! abnormal enzyme/coenzyme activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011608 name: increased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity def: "greater ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+" [GO:0004365] synonym: "increased 3-phosphoglyceraldehyde dehydrogenase activity" EXACT [] synonym: "increased D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating)" EXACT [] synonym: "increased dehydrogenase, glyceraldehyde phosphate" EXACT [] synonym: "increased GAPDH activity" EXACT [] synonym: "increased glyceraldehyde phosphate dehydrogenase (NAD)" EXACT [] synonym: "increased glyceraldehyde-3-P-dehydrogenase activity" EXACT [] synonym: "increased NAD-dependent glyceraldehyde phosphate dehydrogenase activity" EXACT [] synonym: "increased NAD-dependent glyceraldehyde-3-phosphate dehydrogenase activity" EXACT [] synonym: "increased NADH-glyceraldehyde phosphate dehydrogenase activity" EXACT [] synonym: "increased phosphoglyceraldehyde dehydrogenase activity" EXACT [] synonym: "increased triosephosphate dehydrogenase activity" EXACT [] is_a: MP:0011607 ! abnormal glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011609 name: decreased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity def: "reduced ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+" [GO:0004365] synonym: "decreased 3-phosphoglyceraldehyde dehydrogenase activity" EXACT [] synonym: "decreased D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating)" EXACT [] synonym: "decreased dehydrogenase, glyceraldehyde phosphate" EXACT [] synonym: "decreased GAPDH activity" EXACT [] synonym: "decreased glyceraldehyde phosphate dehydrogenase (NAD)" EXACT [] synonym: "decreased glyceraldehyde-3-P-dehydrogenase activity" EXACT [] synonym: "decreased NAD-dependent glyceraldehyde phosphate dehydrogenase activity" EXACT [] synonym: "decreased NAD-dependent glyceraldehyde-3-phosphate dehydrogenase activity" EXACT [] synonym: "decreased NADH-glyceraldehyde phosphate dehydrogenase activity" EXACT [] synonym: "decreased phosphoglyceraldehyde dehydrogenase activity" EXACT [] synonym: "decreased triosephosphate dehydrogenase activity" EXACT [] is_a: MP:0011607 ! abnormal glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity created_by: csmith creation_date: 2012-01-26T01:31:29Z [Term] id: MP:0011610 name: abnormal primordial germ cell apoptosis def: "change in the timing or the number of primordial germ cells undergoing programmed cell death" [MGI:smb] synonym: "abnormal PGC apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0001919 ! abnormal reproductive system physiology created_by: csmith creation_date: 2012-02-28T12:13:11Z [Term] id: MP:0011611 name: abnormal circulating ghrelin level def: "any anomaly in the blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland; in addition to stimulating appetite and growth, ghrelin also plays various roles in energy homeostasis, neuropathy, and in the cardiovascular and immune systems" [MGI:anna] synonym: "abnormal plasma ghrelin level" NARROW [] synonym: "abnormal serum ghrelin level" NARROW [] is_a: MP:0005418 ! abnormal circulating hormone level created_by: csmith creation_date: 2012-02-28T12:46:51Z [Term] id: MP:0011612 name: increased circulating ghrelin level def: "greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland" [MGI:anna] synonym: "hyperghrelinemia" EXACT [] synonym: "increased plasma ghrelin level" NARROW [] synonym: "increased serum ghrelin level" EXACT [] is_a: MP:0011611 ! abnormal circulating ghrelin level created_by: csmith creation_date: 2012-02-28T12:47:30Z [Term] id: MP:0011613 name: decreased circulating ghrelin level def: "less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland" [MGI:anna] synonym: "decreased plasma ghrelin level" NARROW [] synonym: "decreased serum ghrelin level" NARROW [] synonym: "hypoghrelinemia" EXACT [] synonym: "reduced plasma ghrelin level" NARROW [] synonym: "reduced serum ghrelin level" NARROW [] is_a: MP:0011611 ! abnormal circulating ghrelin level created_by: csmith creation_date: 2012-02-28T12:47:30Z [Term] id: MP:0011614 name: slow aging def: "later than normal occurrence of the normal signs of aging" [MGI:csmith] synonym: "aging resistance" EXACT [] synonym: "resistance to aging" EXACT [] is_a: MP:0010768 ! mortality/aging created_by: csmith creation_date: 2012-02-28T01:41:31Z [Term] id: MP:0011615 name: submucous cleft palate def: "a cleft of the soft palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, a translucent line in the midline of the soft palate and a short palate" [PMID:19779505] synonym: "SMCP" EXACT [] synonym: "submucosal cleft palate" EXACT [] is_a: MP:0003154 ! abnormal soft palate morphology is_a: MP:0009890 ! cleft secondary palate created_by: csmith creation_date: 2012-02-28T03:20:10Z [Term] id: MP:0011616 name: abnormal nonassociative learning def: "anomaly in the process of a simple form of learning whereby the repeated presence of a stimulus leads to a change in the probability or strength of the response to that stimulus; there is no association of one type of stimulus with another, rather it is a generalized response to the environment" [GO:0046958] synonym: "abnormal unconditional response" EXACT [] is_a: MP:0001449 ! abnormal learning/ memory created_by: csmith creation_date: 2012-04-12T10:53:06Z [Term] id: MP:0011617 name: abnormal habituation def: "anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus" [GO:0046959, PMID:16774787] is_a: MP:0011616 ! abnormal nonassociative learning created_by: csmith creation_date: 2012-04-12T10:53:44Z [Term] id: MP:0011618 name: abnormal sensitization def: "anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a stimulus" [GO:0046960] is_a: MP:0011616 ! abnormal nonassociative learning created_by: csmith creation_date: 2012-04-12T10:53:57Z [Term] id: MP:0011619 name: abnormal dishabituation def: "anomaly in the process in which there is a temporary recovery of response to a stimulus when a novel stimulus is added" [GO:0097270] is_a: MP:0011616 ! abnormal nonassociative learning created_by: csmith creation_date: 2012-04-12T11:07:27Z [Term] id: MP:0011620 name: abnormal habituation to a new environment def: "anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment" [MGI:csmith] is_a: MP:0001413 ! abnormal response to new environment is_a: MP:0011617 ! abnormal habituation created_by: csmith creation_date: 2012-04-12T11:13:52Z [Term] id: MP:0011621 name: abnormal habituation to a novel object def: "anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel object" [MGI:csmith] is_a: MP:0003461 ! abnormal response to novel object is_a: MP:0011617 ! abnormal habituation created_by: csmith creation_date: 2012-04-12T11:13:52Z [Term] id: MP:0011622 name: abnormal habituation to a novel odor def: "anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel odor" [MGI:csmith] is_a: MP:0001460 ! abnormal olfactory -discrimination memory is_a: MP:0003462 ! abnormal response to novel odor is_a: MP:0011617 ! abnormal habituation created_by: csmith creation_date: 2012-04-12T11:13:52Z [Term] id: MP:0011623 name: abnormal habituation to xenobiotic def: "anomaly in the process in which there is a progressive decline of behavioral response probability with exposure to xenobiotics" [MGI:csmith] synonym: "abnormal drug habituation" NARROW [] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic is_a: MP:0011617 ! abnormal habituation created_by: csmith creation_date: 2012-04-12T11:13:52Z [Term] id: MP:0011624 name: abnormal sensitization to xenobiotic def: "anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a xenobiotic" [MGI:csmith] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic is_a: MP:0011618 ! abnormal sensitization created_by: csmith creation_date: 2012-04-12T11:14:40Z [Term] id: MP:0011625 name: cystolithiasis def: "caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection" [MGI:csmith] synonym: "urinary bladder stones" EXACT [] synonym: "vesical calculus" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology is_a: MP:0005360 ! urolithiasis created_by: csmith creation_date: 2012-04-12T12:48:58Z [Term] id: MP:0011626 name: orotic acid urinary bladder stones def: "presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection" [MGI:csmith] synonym: "orotic acid vesical calculus" EXACT [] is_a: MP:0011625 ! cystolithiasis created_by: csmith creation_date: 2012-04-12T12:52:40Z [Term] id: MP:0011627 name: decreased skin pigmentation def: "visually detectable dilution of pigment present in the skin" [MGI:csmith] is_a: MP:0002095 ! abnormal skin pigmentation is_a: MP:0005408 ! hypopigmentation created_by: csmith creation_date: 2012-04-12T01:10:57Z [Term] id: MP:0011628 name: increased mitochondria number def: "greater than normal number of the cellular organelles responsible for energy production" [MGI:csmith] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011629 name: decreased mitochondria number def: "fewer than normal number of the cellular organelles responsible for energy production" [MGI:csmith] synonym: "reduced mitochondria number" EXACT [] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011630 name: increased mitochondria size def: "enlarged the cellular organelles responsible for energy production" [MGI:csmith] synonym: "enlarged mitochondria" EXACT [] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011631 name: decreased mitochondria size def: "reduced size of the cellular organelles responsible for energy production" [MGI:csmith] synonym: "reduced mitochondria size" EXACT [] synonym: "small mitochondria" EXACT [] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011632 name: dilated mitochondria def: "the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith] synonym: "swollen mitochondria" EXACT [] is_a: MP:0011630 ! increased mitochondria size created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011633 name: abnormal mitochondrial shape def: "any anomaly in the characteristic surface outline or contour of a mitochondria" [MGI:csmith] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011634 name: abnormal mitochondrial inner membrane morphology def: "any structural anomaly of the inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope, which is highly folded to form cristae" [GO:0005743] synonym: "abnormal inner mitochondrial membrane morphology" EXACT [] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011635 name: abnormal mitochondrial crista morphology def: "Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria" [GO:0030061] synonym: "abnormal mitochondrial cristae morphology" EXACT [] is_a: MP:0011634 ! abnormal mitochondrial inner membrane morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011636 name: disorganized mitochondrial cristae def: "derangement of the pattern of the inward folds of the mitochondrial inner membrane" [MGI:csmith] is_a: MP:0011635 ! abnormal mitochondrial crista morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011637 name: abnormal mitochondrial matrix morphology def: "any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation" [GO:0005759] synonym: "abnormal mitochondrial lumen morphology" EXACT [] synonym: "abnormal mitochondrial stroma morphology" RELATED [] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011638 name: abnormal mitochondrial chromosome morphology def: "any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell" [GO:0000262] synonym: "abnormal mitochondria chromosome morphology" EXACT [] synonym: "abnormal mitochondrial DNA morphology" EXACT [] synonym: "abnormal mitochondrial genome morphology" EXACT [] synonym: "abnormal mitochondrion chromosome morphology" EXACT [] synonym: "abnormal mtDNA morphology" EXACT [] is_a: MP:0006035 ! abnormal mitochondrion morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011639 name: decreased mitochondrial DNA content def: "less than expected amount of DNA contained within the mirochondria of a eukaryotic cell" [MGI:csmith] synonym: "decreased mitochondrial genome size" EXACT [] synonym: "decreased mtDNA amount" EXACT [] synonym: "reduced mitochondrial DNA content" EXACT [] is_a: MP:0011638 ! abnormal mitochondrial chromosome morphology created_by: csmith creation_date: 2012-04-12T01:40:51Z [Term] id: MP:0011640 name: abnormal aorta collagen fibril morphology def: "any structural anomaly of the connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith] is_a: MP:0009871 ! abnormal aorta tunica adventitia morphology created_by: csmith creation_date: 2012-04-12T02:49:27Z [Term] id: MP:0011641 name: abnormal pulmonary collagen fibril morphology def: "any structural anomaly of the connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith] synonym: "abnormal lung collagen fibril morphology" EXACT [] is_a: MP:0001175 ! abnormal lung morphology created_by: csmith creation_date: 2012-04-12T02:50:37Z [Term] id: MP:0011642 name: abnormal bone collagen fibril morphology def: "any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith] is_a: MP:0003795 ! abnormal bone structure created_by: csmith creation_date: 2012-04-12T02:51:34Z [Term] id: MP:0011643 name: abnormal tendon collagen fibril morphology def: "any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith] is_a: MP:0005503 ! abnormal tendon morphology created_by: csmith creation_date: 2012-04-12T02:51:58Z [Term] id: MP:0011644 name: abnormal oviduct epithelium motile cilium morphology def: "any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct" [MGI:csmith] synonym: "abnormal oviduct epithelial motile cilia morphology" EXACT [] synonym: "abnormal oviduct epithelial motile cilium morphology" EXACT [] synonym: "abnormal oviduct epithelium motile cilia morphology" RELATED [] is_a: MP:0003574 ! abnormal oviduct morphology created_by: csmith creation_date: 2012-04-12T03:02:05Z [Term] id: MP:0011645 name: absent oviduct epithelium motile cilium def: "absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct" [MGI:csmith] synonym: "absent oviduct epithelial motile cilium" EXACT [] synonym: "absent oviduct epithelium motile cilia" EXACT [] is_a: MP:0011644 ! abnormal oviduct epithelium motile cilium morphology created_by: csmith creation_date: 2012-04-12T03:05:18Z [Term] id: MP:0011646 name: abnormal sinuatrial valve morphology def: "any structural anomaly of the valve at the sinuatrial orifice at the opening of the sinus venosus into the primordial right atrium" [ISBN:0-683-40008-8] synonym: "abnormal sinoatrial valve morphology" EXACT [] is_a: MP:0000267 ! abnormal heart development created_by: csmith creation_date: 2012-04-12T03:34:39Z [Term] id: MP:0011647 name: absent sinuatrial valve def: "absence of the valve at the sinuatrial orifice at the opening of the sinus venosus into the primordial right atrium" [ISBN:0-683-40008-8] synonym: "absent sinoatrial valve" EXACT [] is_a: MP:0011646 ! abnormal sinuatrial valve morphology created_by: csmith creation_date: 2012-04-12T03:36:45Z [Term] id: MP:0011648 name: thick heart valve cusps def: "an increase in the heart cusp wall thickness" [MGI:csmith] synonym: "thick heart valve leaflets" EXACT [] synonym: "thickened heart valve cusps" EXACT [] synonym: "thickened heart valve leaflets" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology created_by: csmith creation_date: 2012-04-12T03:38:29Z [Term] id: MP:0011649 name: immotile respiratory cilia def: "failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract" [MGI:csmith] synonym: "immotile respiratory cilium" EXACT [] is_a: MP:0011055 ! abnormal respiratory motile cilium physiology created_by: csmith creation_date: 2012-04-12T03:50:15Z [Term] id: MP:0011650 name: abnormal corneal stroma collagen fibril morphology def: "any structural anomaly of the connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith] is_a: MP:0005300 ! abnormal corneal stroma morphology created_by: csmith creation_date: 2012-04-18T07:12:54Z [Term] id: MP:0011651 name: abnormal circulating histidine level def: "the amount of the amino acid histidine in the blood is more or less than expected" [MGI:llw2] is_a: MP:0005311 ! abnormal circulating amino acid level created_by: csmith creation_date: 2012-04-18T08:22:18Z [Term] id: MP:0011652 name: increased circulating histidine level def: "the amount of the amino acid histidine in the blood is more than expected" [MGI:llw2] synonym: "histidinemia" RELATED [] is_a: MP:0011651 ! abnormal circulating histidine level created_by: csmith creation_date: 2012-04-18T08:25:23Z [Term] id: MP:0011653 name: decreased circulating histidine level def: "the amount of the amino acid histidine in the blood is less than expected" [MGI:llw2] synonym: "reduced circulating histidine level" EXACT [] is_a: MP:0011651 ! abnormal circulating histidine level created_by: csmith creation_date: 2012-04-18T08:25:23Z [Term] id: MP:0011654 name: increased urine histidine level def: "increased excretion of histidine and related imidazole metabolites in urine" [MGI:llw2] is_a: MP:0003311 ! aminoaciduria created_by: csmith creation_date: 2012-04-18T08:29:04Z [Term] id: MP:0011655 name: abnormal systemic artery morphology alt_id: Fyler:2600 def: "any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs" [MGI:csmith] subset: CvDC_Terms synonym: "systemic artery anomaly" EXACT [] synonym: "systemic artery dysplasia" EXACT [] is_a: MP:0002191 ! abnormal artery morphology created_by: csmith creation_date: 2012-04-19T11:32:37Z [Term] id: MP:0011656 name: coronary arterio-venous fistula alt_id: Fyler:2240 def: "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "coronary arteriovenous fistula" EXACT [] is_a: MP:0010476 ! coronary fistula created_by: csmith creation_date: 2012-04-19T11:41:27Z [Term] id: MP:0011657 name: coronary-cameral fistula def: "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering a chamber of the heart (coronary-cameral fistula)" [http://emedicine.medscape.com] subset: CvDC_Terms is_a: MP:0010476 ! coronary fistula created_by: csmith creation_date: 2012-04-19T11:43:16Z [Term] id: MP:0011658 name: interrupted aortic arch, type a def: "complete discontinuation/blockage between the ascending and descending aorta with the interruption located distal to the subclavian artery that is ipsilateral to the second carotid artery" [MGI:csmith] subset: CvDC_Terms synonym: "interrupted aortic arch type a" EXACT [] is_a: MP:0004157 ! interrupted aortic arch created_by: csmith creation_date: 2012-04-19T11:46:03Z [Term] id: MP:0011659 name: interrupted aortic arch, type b alt_id: Fyler:1252 def: "complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery" [MGI:csmith] subset: CvDC_Terms synonym: "interrupted aortic arch type b" EXACT [] is_a: MP:0004157 ! interrupted aortic arch created_by: csmith creation_date: 2012-04-19T11:46:03Z [Term] id: MP:0011660 name: ectopia cordis alt_id: Fyler:0170 alt_id: Fyler:170 def: "congenital condition in which the heart is exposed and/or protruding from the thorax due to abnormal development of the sternum, pericardium and/or the abdominal wall" [ISBN:0-683-40008-8] subset: CvDC_Terms is_a: MP:0006065 ! abnormal heart position or orientation created_by: csmith creation_date: 2012-04-20T10:20:09Z [Term] id: MP:0011661 name: persistent truncus arteriosus type i alt_id: Fyler:0510 alt_id: Fyler:510 def: "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "PTA, type I" EXACT [] is_a: MP:0002633 ! persistent truncus arteriosis created_by: csmith creation_date: 2012-04-20T10:48:42Z [Term] id: MP:0011662 name: persistent truncus arteriosus type ii alt_id: Fyler:0520 alt_id: Fyler:520 def: "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches from the posterolateral aspect of the common arterial trunk" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "PTA, type II" EXACT [] is_a: MP:0002633 ! persistent truncus arteriosis created_by: csmith creation_date: 2012-04-20T10:48:42Z [Term] id: MP:0011663 name: persistent truncus arteriosus type iii alt_id: Fyler:0530 alt_id: Fyler:530 def: "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; in type iii the branch pulmonary arteries originate independently from the common arterial trunk or aortic arch, most often from the left and right lateral aspects of the trunk; this occasionally occurs with origin of one pulmonary artery from the underside of the aortic arch, usually from a ductus arteriosus" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "PTA, type III" EXACT [] is_a: MP:0002633 ! persistent truncus arteriosis created_by: csmith creation_date: 2012-04-20T11:11:47Z [Term] id: MP:0011664 name: persistent truncus arteriosus type iv alt_id: Fyler:0540 alt_id: Fyler:540 def: "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is a form of the lesion with neither pulmonary arterial branch arises from the common trunk, and is more commonly recognized to be a form of pulmonary atresia with ventricular septal defect rather than truncus arteriosus" [http://emedicine.medscape.com] subset: CvDC_Terms synonym: "persistent truncus arteriosus type 4" EXACT [] synonym: "PTA, type IV" EXACT [] is_a: MP:0002633 ! persistent truncus arteriosis created_by: csmith creation_date: 2012-04-20T11:12:08Z [Term] id: MP:0011665 name: d-loop transposition of the great arteries alt_id: Fyler:0700 alt_id: Fyler:700 def: "complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing" [PMID:17159076] synonym: "complete transposition of the great arteries" EXACT [] synonym: "D-TGA" EXACT [] is_a: MP:0004110 ! transposition of great arteries created_by: csmith creation_date: 2012-04-20T11:24:23Z [Term] id: MP:0011666 name: double outlet right ventricle, ventricular defect committed to aorta alt_id: Fyler:0602 alt_id: Fyler:602 def: "a form of DORV in which a ventricular septal defect is located just below the aorta; the left ventricular outflow is directed toward the aorta, resulting in aortic oxygen saturations that exceed pulmonary saturations; pulmonary stenosis is also often present" [MGI:csmith] subset: CvDC_Terms synonym: "DORV, ventricular defect committed to aorta" EXACT [] is_a: MP:0000284 ! double outlet right ventricle created_by: csmith creation_date: 2012-04-20T11:38:09Z [Term] id: MP:0011667 name: double outlet right ventricle with atrioventricular septal defect alt_id: Fyler:0606 alt_id: Fyler:606 def: "a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith] subset: CvDC_Terms synonym: "AV canal" EXACT [] synonym: "DORV + AVSD (AV canal)" EXACT [] is_a: MP:0000284 ! double outlet right ventricle created_by: csmith creation_date: 2012-04-20T11:38:09Z [Term] id: MP:0011668 name: double outlet right ventricle, Taussig bing type alt_id: Fyler:0610 alt_id: Fyler:610 def: "a form of DORV in which blood from the left ventricle passes through a ventricular septal defect to the pulmonary artery, and blood from the right ventricle is directed to the aorta" [MGI:csmith] subset: CvDC_Terms synonym: "DORV, Taussing bing" EXACT [] synonym: "double outlet right ventricle with subpulmonary VSD" RELATED [] is_a: MP:0000284 ! double outlet right ventricle created_by: csmith creation_date: 2012-04-20T11:38:09Z [Term] id: MP:0011669 name: double outlet right ventricle, doubly committed ventricular septal defect alt_id: Fyler:0604 alt_id: Fyler:604 def: "a form of DORV in which there are two ventricular septal defects, one below the aorta and one below the pulmonary artery and the left ventricular outflow is equally shared by the aorta and pulmonary artery" [http://emedicine.medscape.com, MGI:csmith] subset: CvDC_Terms is_a: MP:0000284 ! double outlet right ventricle created_by: csmith creation_date: 2012-04-20T12:31:42Z [Term] id: MP:0011670 name: double outlet right ventricle, noncommitted ventricular septal defect alt_id: Fyler:0603 alt_id: Fyler:603 def: "a form of DORV in which the ventricular septal defect is distant from both the aorta and pulmonary artery and blood mixes in the right ventricle before entering these vessels, with the majority of deoxygenated blood entering the aorta" [MGI:csmith] subset: CvDC_Terms synonym: "double outlet right ventricle, ventricular septal defect uncommitted" EXACT [] is_a: MP:0000284 ! double outlet right ventricle created_by: csmith creation_date: 2012-04-20T12:32:41Z [Term] id: MP:0011671 name: balanced complete atrioventricular canal alt_id: Fyler:1124 subset: CvDC_Terms is_a: MP:0010413 ! complete atrioventricular septal defect created_by: csmith creation_date: 2012-04-20T01:32:23Z [Term] id: MP:0011672 name: unbalanced complete atrioventricular canal, left dominant alt_id: Fyler:1125 subset: CvDC_Terms is_a: MP:0011673 ! unbalanced complete common atrioventricular canal created_by: csmith creation_date: 2012-04-20T01:32:23Z [Term] id: MP:0011673 name: unbalanced complete common atrioventricular canal alt_id: Fyler:1132 subset: CvDC_Terms is_a: MP:0010413 ! complete atrioventricular septal defect created_by: csmith creation_date: 2012-04-20T01:32:23Z [Term] id: MP:0011674 name: multiple major aortopulmonary collateral arteries alt_id: Fyler:2271 subset: CvDC_Terms synonym: "MAPCAS" RELATED [] is_a: MP:0010635 ! aorta pulmonary collateral arteries created_by: csmith creation_date: 2012-04-20T01:57:13Z [Term] id: MP:0011675 name: double aortic arch, balanced arches alt_id: Fyler:2780 def: "defect in which the aortic arch splits into equally sized large left and right branches, encircling the trachea and esophagus, before becoming one tube to go to the lower body" [MGI:csmith] subset: CvDC_Terms is_a: MP:0004159 ! double aortic arch created_by: csmith creation_date: 2012-04-20T01:58:34Z [Term] id: MP:0011676 name: aortic arch obstruction alt_id: Fyler:1241 def: "any impediment or blockage causing a cessation or reversal of the normal flow of the blood through the aortic arch" [MGI:csmith] subset: CvDC_Terms synonym: "transverse arch obstruction" EXACT [] is_a: MP:0004113 ! abnormal aortic arch morphology created_by: csmith creation_date: 2012-04-20T02:00:44Z [Term] id: MP:0011677 name: abnormal olfactory sensory neuron physiology def: "any functional anomaly of cells that innervate the olfactory epithelium and are responsible for receiving and transmitting odorant signals" [MGI:csmith] is_a: MP:0010055 ! abnormal sensory neuron physiology created_by: csmith creation_date: 2012-04-20T03:00:44Z [Term] id: MP:0011678 name: abnormal vomeronasal sensory neuron physiology def: "any functional anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals" [MGI:csmith] is_a: MP:0010055 ! abnormal sensory neuron physiology created_by: csmith creation_date: 2012-04-20T03:00:44Z [Term] id: MP:0011679 name: abnormal vomeronasal sensory neuron morphology def: "any structural anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals" [MGI:csmith] is_a: MP:0001001 ! abnormal chemoreceptor morphology created_by: csmith creation_date: 2012-04-20T03:06:45Z [Term] id: MP:0011680 name: tricuspid valve hypoplasia alt_id: Fyler:1720 def: "decrease in the number of normal cells in normal arrangement in the tricuspid valve, resulting in a decreased size caused by underdevelopment or incomplete development of the structure" [MGI:csmith] subset: CvDC_Terms synonym: "hypoplastic tricuspid valve" EXACT [] is_a: MP:0002624 ! abnormal tricuspid valve morphology created_by: csmith creation_date: 2012-04-27T09:13:56Z [Term] id: MP:0011681 name: atrium cysts def: "abnormal membranous sacs in any portion of the paired upper chambers of the heart" [MGI:csmith] synonym: "atrial cysts" EXACT [] synonym: "cystic atria" EXACT [] synonym: "cystic atrium" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology created_by: csmith creation_date: 2012-04-27T09:53:10Z [Term] id: MP:0011682 name: renal glomerulus cysts def: "abnormal membranous sacs in any portion of the renal glomerulus" [MGI:csmith] synonym: "cystic glomeruli" EXACT [] synonym: "glomerular cysts" EXACT [] is_a: MP:0003675 ! kidney cysts created_by: csmith creation_date: 2012-04-27T09:55:46Z [Term] id: MP:0011683 name: dual inferior vena cava def: "presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein" [MGI:csmith, PMID:10835118] synonym: "congenital duplicated inferior vena cava " EXACT [] synonym: "double inferior vena cava" EXACT [] synonym: "double IVC" EXACT [] synonym: "dual inferior vena cavae" EXACT [] synonym: "duplicated inferior vena cava" EXACT [] is_a: MP:0006063 ! abnormal inferior vena cava morphology created_by: csmith creation_date: 2012-04-27T09:57:17Z [Term] id: MP:0011684 name: coronary-cameral fistula to right ventricle alt_id: Fyler:2233 def: "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle" [MGI:csmith] subset: CvDC_Terms is_a: MP:0011657 ! coronary-cameral fistula created_by: csmith creation_date: 2012-04-27T10:15:15Z [Term] id: MP:0011685 name: abnormal limb paddle morphology def: "any structural anomaly of the transient developing limb structure that develops from the limb bud; it is a dorsoventral flattening of the limb bud structure and develops into the foot plate" [MGI:csmith] is_a: MP:0006279 ! abnormal limb development created_by: csmith creation_date: 2012-04-27T10:38:17Z [Term] id: MP:0011686 name: increased epidermal stem cell number def: "greater than expected number of somatic stem cells that are part of the epidermis" [CL:1000428, MGI:csmith] is_a: MP:0011004 ! abnormal epidermal stem cell morphology created_by: csmith creation_date: 2012-05-11T10:15:24Z [Term] id: MP:0011687 name: decreased epidermal stem cell number def: "a reduction in the number of somatic stem cells that are part of the epidermis" [CL:1000428, MGI:csmith] is_a: MP:0011004 ! abnormal epidermal stem cell morphology created_by: csmith creation_date: 2012-05-11T10:15:25Z [Term] id: MP:0011688 name: absent epidermal stem cells def: "absence of the somatic stem cells that are part of the epidermis" [CL:1000428, MGI:csmith] is_a: MP:0011687 ! decreased epidermal stem cell number created_by: csmith creation_date: 2012-05-11T10:15:26Z [Term] id: MP:0011689 name: absent neutrophils def: "absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes" [CL:0000775, MGI:csmith] is_a: MP:0000222 ! decreased neutrophil cell number created_by: csmith creation_date: 2012-05-11T11:15:58Z [Term] id: MP:0011690 name: absent basophils def: "absence of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation" [CL:0000767] is_a: MP:0002607 ! decreased basophil cell number created_by: csmith creation_date: 2012-05-11T12:09:08Z [Term] id: MP:0011691 name: absent bronchioalveolar stem cells def: "absence of the respiratory stem cells found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury" [CL:0002638] is_a: MP:0010830 ! decreased bronchioalveolar stem cell number created_by: csmith creation_date: 2012-05-11T01:13:13Z [Term] id: MP:0011692 name: increased chondrocyte number def: "greater number of polymorphic cells that form cartilage" [CL:0000138] is_a: MP:0000166 ! abnormal chondrocyte morphology created_by: csmith creation_date: 2012-05-11T01:24:38Z [Term] id: MP:0011693 name: absent chondrocytes def: "absence of polymorphic cells that form cartilage" [CL:0000138] is_a: MP:0000167 ! decreased chondrocyte cell number created_by: csmith creation_date: 2012-05-11T01:25:06Z [Term] id: MP:0011694 name: absent eosinophils def: "any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin" [CL:0000771] is_a: MP:0005012 ! decreased eosinophil cell number created_by: csmith creation_date: 2012-05-11T01:30:36Z [Term] id: MP:0011695 name: absent hematopoietic stem cells def: "absence of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith] synonym: "absent HSCs" EXACT [] is_a: MP:0004810 ! decreased hematopoietic stem cell number created_by: csmith creation_date: 2012-05-11T01:35:28Z [Term] id: MP:0011696 name: absent mast cells def: "any structural anomaly of a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation; progenitors leave bone marrow and mature in connective and mucosal tissue; mature mast cells are found in all tissues, except the bloodstream." [CL:0000097] is_a: MP:0000336 ! decreased mast cell number created_by: csmith creation_date: 2012-05-11T01:37:43Z [Term] id: MP:0011697 name: vacuolated lens def: "fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light" [MGI:llw2] synonym: "lens vacuoles" EXACT [] is_a: MP:0001303 ! abnormal lens morphology is_a: MP:0005545 ! abnormal lens development created_by: csmith creation_date: 2012-05-11T02:01:06Z [Term] id: MP:0011698 name: abnormal brown adipose tissue physiology def: "any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes" [MGI:smb] is_a: MP:0005666 ! abnormal adipose tissue physiology created_by: csmith creation_date: 2012-05-11T02:07:12Z [Term] id: MP:0011699 name: abnormal brown adipose tissue thermogenesis def: "any anomaly in the process of heat production in brown adipocytes" [MGI:smb] is_a: MP:0011698 ! abnormal brown adipose tissue physiology created_by: csmith creation_date: 2012-05-11T03:31:50Z [Term] id: MP:0011700 name: increased cumulus expansion def: "greater ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization" [MGI:anna] synonym: "increased ovarian cumulus expansion" EXACT [] synonym: "increased ovarian cumulus growth" EXACT [] is_a: MP:0009373 ! abnormal cumulus expansion created_by: csmith creation_date: 2012-05-18T10:58:29Z [Term] id: MP:0011701 name: decreased cumulus expansion def: "reduced ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization" [MGI:anna] synonym: "impaired ovarian cumulus expansion" EXACT [] synonym: "reduced ovarian cumulus growth" EXACT [] is_a: MP:0009373 ! abnormal cumulus expansion created_by: csmith creation_date: 2012-05-18T10:58:29Z [Term] id: MP:0011702 name: abnormal fibroblast proliferation def: "anomaly in the ability of the a fibroblast cell population to undergo expansion by cell division" [MGI:csmith] xref: CL:0000057 xref: GO:0048144 is_a: MP:0000350 ! abnormal cell proliferation created_by: csmith creation_date: 2012-05-18T11:21:46Z [Term] id: MP:0011703 name: increased fibroblast proliferation def: "greater the expansion rate of a fibroblast cell population by cell division" [MGI:csmith] is_a: MP:0000351 ! increased cell proliferation is_a: MP:0011702 ! abnormal fibroblast proliferation created_by: csmith creation_date: 2012-05-18T11:22:45Z [Term] id: MP:0011704 name: decreased fibroblast proliferation def: "reduction in the expansion rate of a fibroblast cell population by cell division" [MGI:csmith] synonym: "reduced fibroblast proliferation" EXACT [] is_a: MP:0000352 ! decreased cell proliferation is_a: MP:0011702 ! abnormal fibroblast proliferation created_by: csmith creation_date: 2012-05-18T11:22:45Z [Term] id: MP:0011705 name: absent fibroblast proliferation def: "failure of a fibroblast cell population to undergo expansion by cell division" [MGI:csmith] synonym: "failure of fibroblast proliferation" EXACT [] is_a: MP:0011704 ! decreased fibroblast proliferation created_by: csmith creation_date: 2012-05-18T11:22:45Z [Term] id: MP:0011706 name: abnormal fibroblast migration def: "any anomaly of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [GO:0010761] xref: CL:0000057 xref: GO:0010761 is_a: MP:0003091 ! abnormal cell migration created_by: csmith creation_date: 2012-05-18T11:38:55Z [Term] id: MP:0011707 name: impaired fibroblast cell migration def: "failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith] is_a: MP:0011708 ! decreased fibroblast cell migration created_by: csmith creation_date: 2012-05-18T11:42:49Z [Term] id: MP:0011708 name: decreased fibroblast cell migration def: "reduced frequency of or less rapid cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith] is_a: MP:0011706 ! abnormal fibroblast migration created_by: csmith creation_date: 2012-05-18T11:42:49Z [Term] id: MP:0011709 name: increased fibroblast cell migration def: "greater frequency of or more rapid cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith] is_a: MP:0011706 ! abnormal fibroblast migration created_by: csmith creation_date: 2012-05-18T11:42:49Z [Term] id: MP:0011710 name: increased osteoblast differentiation is_a: MP:0008395 ! abnormal osteoblast differentiation created_by: csmith creation_date: 2012-05-18T11:56:40Z [Term] id: MP:0011711 name: decreased osteoblast differentiation is_a: MP:0008395 ! abnormal osteoblast differentiation created_by: csmith creation_date: 2012-05-18T11:56:40Z [Term] id: MP:0011712 name: absent osteoblast differentiation is_a: MP:0011711 ! decreased osteoblast differentiation created_by: csmith creation_date: 2012-05-18T11:56:40Z [Term] id: MP:0011713 name: abnormal circulating interleukin-8 level is_a: MP:0008588 ! abnormal circulating interleukin level created_by: csmith creation_date: 2012-05-18T03:06:52Z [Term] id: MP:0011714 name: increased circulating interleukin-8 level is_a: MP:0011713 ! abnormal circulating interleukin-8 level created_by: csmith creation_date: 2012-05-18T03:06:52Z [Term] id: MP:0011715 name: decreased circulating interleukin-8 level is_a: MP:0011713 ! abnormal circulating interleukin-8 level created_by: csmith creation_date: 2012-05-18T03:06:52Z [Term] id: MP:0011716 name: abnormal interleukin-8 secretion is_a: MP:0008568 ! abnormal interleukin secretion created_by: csmith creation_date: 2012-05-18T03:08:08Z [Term] id: MP:0011717 name: increased interleukin-8 secretion is_a: MP:0011716 ! abnormal interleukin-8 secretion created_by: csmith creation_date: 2012-05-18T03:08:08Z [Term] id: MP:0011718 name: decreased interleukin-8 secretion is_a: MP:0011716 ! abnormal interleukin-8 secretion created_by: csmith creation_date: 2012-05-18T03:08:08Z [Term] id: MP:0011719 name: abnormal natural killer cell mediated cytotoxicity def: "any anomaly in the process of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors" [GO:0042267] synonym: "abnormal killer activity" BROAD [] synonym: "abnormal natural killer cell mediated cell death" EXACT [] synonym: "abnormal natural killer cell mediated cell killing" EXACT [] synonym: "abnormal natural killer cell mediated cytolysis" EXACT [] synonym: "abnormal natural killer-cell mediated cytolysis" EXACT [] synonym: "abnormal NK cell mediated cell death" EXACT [] synonym: "abnormal NK cell mediated cell killing" EXACT [] synonym: "abnormal NK cell mediated cytolysis" EXACT [] synonym: "abnormal NK cell mediated cytotoxicity" EXACT [] xref: GO:0042267 is_a: MP:0010766 ! abnormal NK cell physiology created_by: csmith creation_date: 2012-05-18T03:45:46Z [Term] id: MP:0011720 name: abnormal ossification involved in bone remodeling def: "any anomaly in the formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli" [GO:0043932] is_a: MP:0002998 ! abnormal bone remodeling is_a: MP:0008271 ! abnormal bone ossification created_by: csmith creation_date: 2012-07-11T09:23:05Z [Term] id: MP:0011721 name: abnormal bone mineralization involved in bone maturation def: "anomaly in the deposition of calcium phosphate in bone tissue, involved in the progression of the developing skeleton from its formation to its mature state" [GO:0035630] is_a: MP:0002896 ! abnormal bone mineralization is_a: MP:0011722 ! abnormal ossification involved in bone maturation created_by: csmith creation_date: 2012-07-11T09:37:33Z [Term] id: MP:0011722 name: abnormal ossification involved in bone maturation def: "anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the developing skeleton from its formation to its mature state" [GO:0043931] synonym: "abnormal ossification involved in skeletal development" EXACT [] is_a: MP:0002113 ! abnormal skeleton development is_a: MP:0008271 ! abnormal bone ossification created_by: csmith creation_date: 2012-07-11T09:39:42Z [Typedef] id: part_of name: part_of is_transitive: true