66
66
1
http://www.orpha.net/ORDO/Orphanet_77830
Rare genetic odontologic disease
'Rare genetic odontologic disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_165652
Rare genetic gastroenterological disease
'Rare genetic gastroenterological disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0001064
Down syndrome
'Down syndrome' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_3389
Tuberculosis
'Tuberculosis' SubClassOf 'reproductive system disease'
http://www.ebi.ac.uk/efo/EFO_0000001
experimental factor
'experimental factor' SubClassOf http://www.w3.org/2002/07/owl#Thing
http://www.geneontology.org/formats/oboInOwl#ObsoleteClass
obsolete class
'obsolete class' SubClassOf http://www.w3.org/2002/07/owl#Thing
http://www.orpha.net/ORDO/Orphanet_271870
Rare genetic systemic or rheumatologic disease
'Rare genetic systemic or rheumatologic disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_140162
Inherited cancer-predisposing syndrome
'Inherited cancer-predisposing syndrome' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0002546
abnormal glucose tolerance
'abnormal glucose tolerance' SubClassOf 'sign or symptom'
'abnormal glucose tolerance' SubClassOf 'Abnormal glucose homeostasis'
http://www.orpha.net/ORDO/Orphanet_71859
Rare genetic neurological disorder
'Rare genetic neurological disorder' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_2809
Familial recurrent peripheral facial palsy
'Familial recurrent peripheral facial palsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000631
http://www.ebi.ac.uk/efo/EFO_0002945
familial cardiomyopathy
'familial cardiomyopathy' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_98054
Rare genetic cardiac disease
'Rare genetic cardiac disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_98056
Rare genetic renal disease
'Rare genetic renal disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_68336
Rare genetic tumor
'Rare genetic tumor' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_68335
Chromosomal anomaly
'Chromosomal anomaly' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_158029
Sea-blue histiocytosis
'Sea-blue histiocytosis' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0003900
ciliopathy
'ciliopathy' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0003894
acne
'acne' SubClassOf 'skin disease'
'acne' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000636
http://www.orpha.net/ORDO/Orphanet_68346
Rare genetic skin disease
'Rare genetic skin disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_68367
Inborn errors of metabolism
'Inborn errors of metabolism' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_158300
Rare genetic hematologic disease
'Rare genetic hematologic disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0003783
progressive bulbar palsy
'progressive bulbar palsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000631
http://www.ebi.ac.uk/efo/EFO_0004832
optic disc size measurement
'optic disc size measurement' SubClassOf 'measurement'
'optic disc size measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006936
http://www.ebi.ac.uk/efo/EFO_0004830
caudate nucleus volume
'caudate nucleus volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.ebi.ac.uk/efo/EFO_0000274
atopic eczema
'atopic eczema' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000636
http://www.orpha.net/ORDO/Orphanet_98685
Oculomotor palsy
'Oculomotor palsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000631
http://www.ebi.ac.uk/efo/EFO_0000508
genetic disorder
'genetic disorder' EquivalentTo 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0004913
lentiform nucleus measurement
'lentiform nucleus measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.orpha.net/ORDO/Orphanet_233655
Rare genetic vascular disease
'Rare genetic vascular disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0000676
psoriasis
'psoriasis' SubClassOf 'skin disease'
'psoriasis' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000636
http://www.ebi.ac.uk/efo/EFO_0004886
intra cranial volume
'intra cranial volume' SubClassOf 'measurement'
'intra cranial volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.ebi.ac.uk/efo/EFO_0004868
volumetric brain MRI
'volumetric brain MRI' SubClassOf 'measurement'
'volumetric brain MRI' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.ebi.ac.uk/efo/EFO_0005597
methylmalonic aciduria and homocystinuria type cblG
'methylmalonic aciduria and homocystinuria type cblG' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_183530
Rare genetic developmental defect during embryogenesis
'Rare genetic developmental defect during embryogenesis' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_183524
Rare genetic bone disease
'Rare genetic bone disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0005580
red color blindness
'red color blindness' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0005581
red-green color blindness
'red-green color blindness' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0005568
methylmalonic aciduria and homocystinuria type cblE
'methylmalonic aciduria and homocystinuria type cblE' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0006793
left inferior lateral ventricle volume measurement
'left inferior lateral ventricle volume measurement' SubClassOf 'brain measurement'
'left inferior lateral ventricle volume measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.orpha.net/ORDO/Orphanet_183731
Rare genetic gynecological and obstetrical diseases
'Rare genetic gynecological and obstetrical diseases' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_183770
Rare genetic immune disease
'Rare genetic immune disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_1000151
Cavernous Hemangioma
'Cavernous Hemangioma' SubClassOf 'neoplasm'
'Cavernous Hemangioma' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000635
http://www.orpha.net/ORDO/Orphanet_168615
Hereditary persistence of alpha-fetoprotein
'Hereditary persistence of alpha-fetoprotein' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_168612
Congenital deficiency in alpha-fetoprotein
'Congenital deficiency in alpha-fetoprotein' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_1000031
genetic disease
'genetic disorder' EquivalentTo 'genetic disease'
'genetic disease' SubClassOf 'disease'
'genetic disease' SubClassOf 'obsolete class'
http://www.ebi.ac.uk/efo/EFO_1000017
autosomal recessive disease
'autosomal recessive disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0004125
growth hormone-secreting pituitary adenoma
'growth hormone-secreting pituitary adenoma' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0005269
congenital heart malformation
'congenital heart malformation' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0005420
grey matter volume measurement
'grey matter volume measurement' SubClassOf 'brain measurement'
'grey matter volume measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.orpha.net/ORDO/Orphanet_254704
Genetic hyperferritinemia without iron overload
'Genetic hyperferritinemia without iron overload' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_96210
Rare genetic deafness
'Rare genetic deafness' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_275742
Genetic infertility
'Genetic infertility' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_101435
Rare genetic eye disease
'Rare genetic eye disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_275534
Myostatin-related muscle hypertrophy
'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0005035
hippocampal volume
'hippocampal volume' SubClassOf 'brain measurement'
'hippocampal volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.ebi.ac.uk/efo/EFO_0005089
whole-brain volume
'whole-brain volume' SubClassOf 'brain measurement'
'whole-brain volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.ebi.ac.uk/efo/EFO_0005092
entorhinal cortical volume
'entorhinal cortical volume' SubClassOf 'brain measurement'
'entorhinal cortical volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930
http://www.orpha.net/ORDO/Orphanet_91378
Hereditary angioedema
'Hereditary angioedema' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_100974
FRAXF syndrome
'FRAXF syndrome' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_1000550
Splenic Marginal Zone Lymphoma
'Splenic Marginal Zone Lymphoma' SubClassOf 'lymphoma'
'Splenic Marginal Zone Lymphoma' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000630
http://www.orpha.net/ORDO/Orphanet_156601
Rare genetic hepatic disease
'Rare genetic hepatic disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_156610
Rare genetic respiratory disease
'Rare genetic respiratory disease' SubClassOf 'genetic disease'
http://www.ebi.ac.uk/efo/EFO_0003105
spina bifida
'spina bifida' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_156638
Rare genetic endocrine disease
'Rare genetic endocrine disease' SubClassOf 'genetic disease'
http://www.orpha.net/ORDO/Orphanet_156619
Rare genetic urogenital disease
'Rare genetic urogenital disease' SubClassOf 'genetic disease'
http://purl.obolibrary.org/obo/HP_0000407
Sensorineural hearing impairment
'Sensorineural hearing impairment' SubClassOf 'Hearing abnormality'
http://purl.obolibrary.org/obo/HP_0100727
Histiocytosis
'Histiocytosis' SubClassOf 'abnormality of blood and blood-forming tissues'
http://purl.obolibrary.org/obo/HP_0004840
Hypochromic microcytic anemia
'Hypochromic microcytic anemia' SubClassOf 'anemia'
http://purl.obolibrary.org/obo/HP_0000364
Hearing abnormality
'Hearing abnormality' SubClassOf 'Abnormality of the ear'
http://purl.obolibrary.org/obo/HP_0100529
Abnormality of phosphate homeostasis
'Abnormality of phosphate homeostasis' SubClassOf 'Abnormality of ion homeostasis'
http://purl.obolibrary.org/obo/HP_0002148
Hypophosphatemia
'Hypophosphatemia' SubClassOf 'abnormality of blood and blood-forming tissues'
'Hypophosphatemia' SubClassOf 'Abnormality of phosphate homeostasis'
http://www.ebi.ac.uk/efo/EFO_0006950
response to vincristine
'response to vincristine' SubClassOf 'response to antimicrotubule agent'
http://www.ebi.ac.uk/efo/EFO_0006952
cytotoxicity measurement
'cytotoxicity measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006951
ototoxicity
'ototoxicity' SubClassOf 'Hearing abnormality'
http://www.ebi.ac.uk/efo/EFO_0006941
grip strength measurement
'grip strength measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006940
optic cup area measurement
'optic cup area measurement' SubClassOf 'optic disc measurement'
http://www.ebi.ac.uk/efo/EFO_0006943
blood pressure change measurement
'blood pressure change measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006942
facial pigmentation measurement
'facial pigmentation measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006945
diastolic blood pressure change measurement
'diastolic blood pressure change measurement' SubClassOf 'blood pressure change measurement'
http://www.ebi.ac.uk/efo/EFO_0006944
systolic blood pressure change measurement
'systolic blood pressure change measurement' SubClassOf 'blood pressure change measurement'
http://www.ebi.ac.uk/efo/EFO_0006947
red wine liking measurement
'red wine liking measurement' SubClassOf 'wine liking measurement'
http://www.ebi.ac.uk/efo/EFO_0006946
behavioural disinhibition measurement
'behavioural disinhibition measurement' SubClassOf 'mental or behavioural disorder biomarker'
http://www.ebi.ac.uk/efo/EFO_0006948
white wine liking measurement
'white wine liking measurement' SubClassOf 'wine liking measurement'
http://www.ebi.ac.uk/efo/EFO_0006949
wine liking measurement
'wine liking measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006918
female fertility
'female fertility' SubClassOf 'phenotype'
http://www.ebi.ac.uk/efo/EFO_0006917
spontaneous preterm birth
'spontaneous preterm birth' SubClassOf 'premature birth'
http://www.ebi.ac.uk/efo/EFO_0006916
response to dalcetrapib
'response to dalcetrapib' SubClassOf 'response to drug'
http://www.ebi.ac.uk/efo/EFO_0006919
cardiovascular event measurement
'cardiovascular event measurement' SubClassOf 'cardiovascular disease biomarker measurement'
http://www.ebi.ac.uk/efo/EFO_0006935
thalamus volume
'thalamus volume' SubClassOf 'brain volume measurement'
http://www.ebi.ac.uk/efo/EFO_0006936
optic disc measurement
'optic disc measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006933
pallidum volume
'pallidum volume' SubClassOf 'brain volume measurement'
http://www.ebi.ac.uk/efo/EFO_0006934
amygdala volume
'amygdala volume' SubClassOf 'brain volume measurement'
http://www.ebi.ac.uk/efo/EFO_0006931
nucleus accumbens volume
'nucleus accumbens volume' SubClassOf 'brain volume measurement'
http://www.ebi.ac.uk/efo/EFO_0006932
putamen volume
'putamen volume' SubClassOf 'brain volume measurement'
http://www.ebi.ac.uk/efo/EFO_0006930
brain volume measurement
'brain volume measurement' SubClassOf 'brain measurement'
http://www.ebi.ac.uk/efo/EFO_0006939
cup-to-disc ratio measurement
'cup-to-disc ratio measurement' SubClassOf 'optic disc measurement'
http://www.ebi.ac.uk/efo/EFO_0006938
optic rim area measurement
'optic rim area measurement' SubClassOf 'optic disc measurement'
http://www.ebi.ac.uk/efo/EFO_0006937
optic disc area measurement
'optic disc area measurement' SubClassOf 'optic disc measurement'
http://www.ebi.ac.uk/efo/EFO_0006922
delivery measurement
'delivery measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006923
fertility measurement
'fertility measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006924
household air pollution measurement
'household air pollution measurement' SubClassOf 'respiratory disease biomarker'
http://www.ebi.ac.uk/efo/EFO_0006925
lipoprotein A measurement
'lipoprotein A measurement' SubClassOf 'lipoprotein measurement'
http://www.ebi.ac.uk/efo/EFO_0006920
BNP measurement
'BNP measurement' SubClassOf 'protein measurement'
'BNP measurement' SubClassOf 'cardiovascular disease biomarker measurement'
http://www.ebi.ac.uk/efo/EFO_0006921
birth measurement
'birth measurement' SubClassOf 'measurement'
http://www.ebi.ac.uk/efo/EFO_0006927
severe aplastic anemia
'severe aplastic anemia' SubClassOf 'aplastic anemia'
http://www.ebi.ac.uk/efo/EFO_0006926
acquired aplastic anemia
'acquired aplastic anemia' SubClassOf 'aplastic anemia'
http://www.ebi.ac.uk/efo/EFO_0006929
IgG index
'IgG index' SubClassOf 'serum IgG measurement'
'IgG index' SubClassOf 'cerebrospinal fluid biomarker measurement'
http://www.ebi.ac.uk/efo/EFO_0006928
motion sickness
'motion sickness' SubClassOf 'sign or symptom'
http://purl.obolibrary.org/obo/HP_0005208
Secretory diarrhea
'Secretory diarrhea' SubClassOf 'diarrhea'
http://purl.obolibrary.org/obo/HP_0006517
Alveolar proteinosis
'Alveolar proteinosis' SubClassOf 'abnormality of the lung'
http://purl.obolibrary.org/obo/GO_0055062
phosphate ion homeostasis
'phosphate ion homeostasis' SubClassOf 'homeostatic process'
http://www.ebi.ac.uk/efo/EFO_1000631
palsy
'palsy' SubClassOf 'nervous system disease'
http://www.ebi.ac.uk/efo/EFO_1000632
cerebral palsy
'cerebral palsy' SubClassOf 'palsy'
'cerebral palsy' SubClassOf 'brain disease'
http://www.ebi.ac.uk/efo/EFO_1000630
marginal zone B-cell lymphoma
'marginal zone B-cell lymphoma' SubClassOf 'non-Hodgkins lymphoma'
http://www.ebi.ac.uk/efo/EFO_1000639
acquired metabolic disease
'acquired metabolic disease' SubClassOf 'metabolic disease'
http://www.ebi.ac.uk/efo/EFO_1000638
Isaacs syndrome
'Isaacs syndrome' SubClassOf 'nervous system disease'
http://www.ebi.ac.uk/efo/EFO_1000637
acute respiratory distress syndrome
'acute respiratory distress syndrome' SubClassOf 'respiratory system disease'
http://www.ebi.ac.uk/efo/EFO_1000636
inflammatory skin disease
'inflammatory skin disease' SubClassOf 'skin disease'
http://www.ebi.ac.uk/efo/EFO_1000635
hemangioma
'hemangioma' SubClassOf 'neoplasm'
http://www.ebi.ac.uk/efo/EFO_1000634
hamartoma
'hamartoma' SubClassOf 'neoplasm'
http://www.ebi.ac.uk/efo/EFO_1000633
adenomatous colon polyp
'adenomatous colon polyp' SubClassOf 'colonic neoplasm'
'adenomatous colon polyp' SubClassOf 'polyp'
http://www.ebi.ac.uk/efo/EFO_1000640
basal ganglia cerebrovascular disease
'basal ganglia cerebrovascular disease' SubClassOf 'cerebrovascular disorder'
http://www.ebi.ac.uk/efo/EFO_1000641
congenital nonspherocytic hemolytic anemia
'congenital nonspherocytic hemolytic anemia' SubClassOf 'Hemoglobinopathy'
http://www.ebi.ac.uk/efo/EFO_1000642
hemochromatosis
'hemochromatosis' SubClassOf 'metabolic disease'
http://www.ebi.ac.uk/efo/EFO_1000643
infantile epileptic encephalopathy
'infantile epileptic encephalopathy' SubClassOf 'epilepsy'
http://www.ebi.ac.uk/efo/EFO_1000645
orthostatic intolerance
'orthostatic intolerance' SubClassOf 'nervous system disease'
http://www.ebi.ac.uk/efo/EFO_1000644
newborn respiratory distress syndrome
'newborn respiratory distress syndrome' SubClassOf 'lung disease'
http://www.ebi.ac.uk/efo/EFO_1000647
renal tubular transport disease
'renal tubular transport disease' SubClassOf 'kidney disease'
http://www.ebi.ac.uk/efo/EFO_1000646
papillary carcinoma
'papillary carcinoma' SubClassOf 'epithelial neoplasm'
http://www.ebi.ac.uk/efo/EFO_1000648
developmental dysplasia of the hip
'developmental dysplasia of the hip' SubClassOf 'bone development disease'
http://purl.obolibrary.org/obo/HP_0000833
Glucose intolerance
'Glucose intolerance' SubClassOf 'abnormal glucose tolerance'
http://www.w3.org/2002/07/owl#Thing