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HumanDO.obo    105262 lines (96406 with data), 3.9 MB

format-version: 1.2
date: 05:12:2014 15:41
saved-by: emitraka
auto-generated-by: OBO-Edit 2.3.1
subsetdef: DO_cancer_slim "DO cancer slim"
subsetdef: GOLD "GOLD"
subsetdef: gram-negative_bacterial_infectious_disease "gram-negative bacterial infectious disease"
subsetdef: gram-positive_bacterial_infectious_disease "gram-positive bacterial infectious disease"
subsetdef: sexually_transmitted_infectious_disease "sexually transmitted infectious disease"
subsetdef: tick-borne_infectious_disease "tick-borne infectious disease"
subsetdef: TopNodes_DOcancerslim "TopNodes_DOcancerslim"
subsetdef: zoonotic_infectious_disease "zoonotic infectious disease"
default-namespace: disease_ontology
remark: This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/.
ontology: doid

[Term]
id: DOID:0000000
name: gallbladder disease
comment: Xref MGI.
xref: ICD9CM:575.9
xref: MSH:D005705
xref: NCI:C34631
xref: OMIM:609918
xref: OMIM:609919
xref: OMIM:611465
xref: SNOMEDCT_2010_1_31:155807008
xref: SNOMEDCT_2010_1_31:155826000
xref: SNOMEDCT_2010_1_31:155829007
xref: SNOMEDCT_2010_1_31:266535008
xref: SNOMEDCT_2010_1_31:266542008
xref: SNOMEDCT_2010_1_31:266543003
xref: SNOMEDCT_2010_1_31:39621005
xref: UMLS_CUI:C0016977
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:0001816
name: angiosarcoma
alt_id: DOID:267
alt_id: DOID:4508
def: "A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces." [url:http\://emedicine.medscape.com/article/276512-overview]
synonym: "Hemangioendothelioma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:33176006]
synonym: "hemangiosarcoma" EXACT []
synonym: "primary hemangiosarcoma" EXACT [NCI2004_11_17:C9275]
xref: MSH:D006394
xref: NCI:C3088
xref: SNOMEDCT_2010_1_31:33176006
xref: SNOMEDCT_2010_1_31:39000009
xref: SNOMEDCT_2010_1_31:403977003
xref: UMLS_CUI:C0018923
xref: UMLS_CUI:C0854893
is_a: DOID:1115 ! sarcoma

[Term]
id: DOID:0002116
name: pterygium
xref: MSH:D011625
is_a: DOID:10124 ! corneal disease
created_by: laronhughes
creation_date: 2010-06-30T02:44:30Z

[Term]
id: DOID:0014667
name: disease of metabolism
def: "A disease that involving errors in metabolic processes of building or degredation of molecules." [url:http\://www.ncbi.nlm.nih.gov/books/NBK22259/]
synonym: "metabolic disease " EXACT [SNOMEDCT_2005_07_31:75934005]
xref: ICD9CM:277.9
xref: MSH:D008659
xref: NCI:C3235
xref: SNOMEDCT_2010_1_31:154733004
xref: SNOMEDCT_2010_1_31:190961002
xref: SNOMEDCT_2010_1_31:267456000
xref: SNOMEDCT_2010_1_31:30390004
xref: SNOMEDCT_2010_1_31:75934005
xref: UMLS_CUI:C0025517
is_a: DOID:4 ! disease

[Term]
id: DOID:0050001
name: Actinomadura madurae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050002
name: Actinomadura pelletieri infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050003
name: Streptomyces somaliensis infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050004
name: seminal vesicle acute gonorrhea
xref: ICD9CM:098.14
xref: SNOMEDCT_2010_1_31:301990003
xref: UMLS_CUI:C0578661
is_a: DOID:10400 ! gonococcal seminal vesiculitis

[Term]
id: DOID:0050007
name: cutaneous strongyloidiasis
def: "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm]
is_obsolete: true

[Term]
id: DOID:0050009
name: intestinal strongyloidiasis
def: "A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh]
is_obsolete: true

[Term]
id: DOID:0050010
name: Mansonella perstans infectious disease
def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm]
is_obsolete: true

[Term]
id: DOID:0050011
name: Mansonella streptocerca infectious disease
def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050012
name: chikungunya
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash." [url:http\://en.wikipedia.org/wiki/Chikungunya_virus]
subset: zoonotic_infectious_disease
synonym: "Chikungunya fever" EXACT []
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050013
name: carbohydrate metabolism disease
is_a: DOID:0060158 ! acquired metabolic disease

[Term]
id: DOID:0050014
name: epizootic hemorrhagic disease
def: "A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf]
synonym: "EHD" RELATED []
is_obsolete: true

[Term]
id: DOID:0050015
name: Rocio virus encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome." [url:http\://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17622628, url:http\://www.scielo.br/pdf/rsp/v20n3/01.pdf]
is_obsolete: true

[Term]
id: DOID:0050024
name: Ehrlichia ewingii ehrlichiosis
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050025
name: human granulocytic anaplasmosis
alt_id: DOID:0050021
alt_id: DOID:0050022
def: "An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash." [url:http\://emedicine.medscape.com/article/235839-overview]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
synonym: "HGE" RELATED []
synonym: "human granulocytic ehrlichiosis" EXACT []
is_a: DOID:10242 ! ehrlichiosis

[Term]
id: DOID:0050026
name: human monocytic ehrlichiosis
alt_id: DOID:14091
def: "An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash." [url:http\://emedicine.medscape.com/article/235839-overview]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
synonym: "Ehrlichiosis chafeensis" RELATED []
xref: UMLS_CUI:C0878687
is_a: DOID:10242 ! ehrlichiosis

[Term]
id: DOID:0050032
name: mineral metabolism disease
is_a: DOID:0060158 ! acquired metabolic disease

[Term]
id: DOID:0050035
name: African tick-bite fever
alt_id: DOID:0050034
alt_id: DOID:0050036
def: "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash." [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Rickettsia africae spotted fever" EXACT []
synonym: "south african tick-bite fever" EXACT []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050041
name: Astrakhan spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." [url:http\://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050042
name: Indian tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." [url:http\://www.biomedcentral.com/1471-2180/5/11, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050043
name: Israeli tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." [url:http\://www.biomedcentral.com/1471-2180/5/11, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Israeli spotted fever" RELATED []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050046
name: Far Eastern spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy." [url:http\://www.cdc.gov/otherspottedfever/index.html, url:www.cdc.gov/eid/content/16/8/pdfs/1306.pdf]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Rickettsia heilongjiangensis spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050047
name: Flinders Island spotted fever
alt_id: DOID:0050048
def: "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy." [url:http\://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
synonym: "FISF" RELATED []
synonym: "Thai tick typhus" EXACT []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050050
name: Japanese spotted fever
alt_id: DOID:0050049
def: "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities." [url:http\://www.cdc.gov/otherspottedfever/index.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "oriental spotted fever" EXACT []
synonym: "Rickettsia japonica spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050051
name: Rickettsia parkeri spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "maculatum infection" EXACT []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050052
name: Rocky Mountain spotted fever
alt_id: DOID:0050056
alt_id: DOID:1708
def: "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Brazillian spotted" RELATED []
synonym: "Choix" RELATED []
synonym: "Exanthematic typhus of Sao Paulo" RELATED []
synonym: "Fiebre maculosa" RELATED []
synonym: "Fiebre manchada" RELATED []
synonym: "Sao Paulo typhus" RELATED []
synonym: "So Paulo fever" RELATED []
synonym: "Tick typhus " RELATED []
synonym: "Tobia fever" RELATED []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050053
name: Rickettsia honei spotted fever
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050059
name: oropharyngeal anthrax
def: "A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite." [url:http\://emedicine.medscape.com/article/212127-overview#a0104]
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_a: DOID:13386 ! gastrointestinal anthrax

[Term]
id: DOID:0050061
name: erysipeloid
def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin." [url:http\://emedicine.medscape.com/article/1054170-overview, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001656/]
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:0050063
name: abortive plague
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050065
name: cutaneous listeriosis
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050066
name: Listeria meningoencephalitis
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050067
name: Listeria septicaemia
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050068
name: pestis minor
def: "A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration." [url:www.cfsph.iastate.edu/Factsheets/pdfs/plague.pdf]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_a: DOID:10773 ! bubonic plague

[Term]
id: DOID:0050069
name: Yersinia pestis infectious disease
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050070
name: plague meningitis
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050072
name: adiaspiromycosis
def: "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens." [url:http\://www.chestjournal.org/content/97/5/1171.abstract, url:http\://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract]
is_a: DOID:0050292 ! primary systemic mycosis

[Term]
id: DOID:0050073
name: invasive aspergillosis
def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4, url:http\://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001326.htm]
is_a: DOID:13564 ! aspergillosis

[Term]
id: DOID:0050074
name: tonsillar aspergillosis
def: "An aspergillosis that involves fungal infection of the tonsils by Aspergillus species." [url:http\://www.ncbi.nlm.nih.gov/pubmed/792373]
is_obsolete: true

[Term]
id: DOID:0050075
name: pulmonary blastomycosis
alt_id: DOID:0050076
alt_id: DOID:0050077
def: "A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules." [url:http\://chestjournal.chestpubs.org/content/121/3/677.full]
is_obsolete: true

[Term]
id: DOID:0050078
name: cervix tuberculosis
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050079
name: niacin deficiency
is_obsolete: true

[Term]
id: DOID:0050080
name: iodine deficiency
is_obsolete: true

[Term]
id: DOID:0050082
name: hepatic Torque teno virus infectious disease
alt_id: DOID:0050081
def: "A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion." [url:https\://www.doria.fi/bitstream/handle/10024/36074/humantor.pdf?sequence=1]
synonym: "human circovirus infectious disease" RELATED []
synonym: "Transfussion-transmitted virus liver infection" EXACT []
synonym: "TT virus liver infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050083
name: Keshan disease
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:0050084
name: rhinotracheitis
def: "An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinotracheitis]
synonym: "feline coryza" EXACT []
synonym: "feline influenza" EXACT []
synonym: "Feline viral rhinotracheitis" EXACT []
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:0050085
name: entomophthoromycosis
def: "A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales." [url:http\://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm]
xref: ICD9CM:117.7
xref: MSH:D020096
xref: NCI:C77212
xref: SNOMEDCT_2010_1_31:187098003
xref: SNOMEDCT_2010_1_31:187496006
xref: SNOMEDCT_2010_1_31:59277005
xref: UMLS_CUI:C0043541
is_obsolete: true

[Term]
id: DOID:0050086
name: cutaneous mucormycosis
def: "An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/, url:http\://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm, url:http\://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf]
is_obsolete: true

[Term]
id: DOID:0050088
name: gastrointestinal mucormycosis
def: "A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16020690]
is_obsolete: true

[Term]
id: DOID:0050089
name: pulmonary mucormycosis
def: "An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has-symptom necrosis." [url:http\://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4]
is_obsolete: true

[Term]
id: DOID:0050090
name: rhinocerebral mucormycosis
def: "An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197h.html]
is_obsolete: true

[Term]
id: DOID:0050091
name: disseminated paracoccidioidomycosis
def: "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/]
is_obsolete: true

[Term]
id: DOID:0050092
name: pulmonary paracoccidioidomycosis
def: "A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/]
is_obsolete: true

[Term]
id: DOID:0050093
name: disseminated sporotrichosis
def: "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus." [url:http\://en.wikipedia.org/wiki/Sporotrichosis]
is_obsolete: true

[Term]
id: DOID:0050094
name: lymphocutaneous sporotrichosis
def: "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate." [url:http\://emedicine.medscape.com/article/228723-overview, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/]
is_obsolete: true

[Term]
id: DOID:0050095
name: pulmonary sporotrichosis
def: "A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes." [url:http\://en.wikipedia.org/wiki/Sporotrichosis]
is_obsolete: true

[Term]
id: DOID:0050096
name: tinea barbae
def: "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules." [url:http\://emedicine.medscape.com/article/1091252-overview, url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_barbae.htm]
synonym: "dermatophytosis of beard" EXACT []
is_a: DOID:8913 ! dermatophytosis

[Term]
id: DOID:0050097
name: ectothrix infectious disease
def: "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft." [url:http\://emedicine.medscape.com/article/1091351-overview, url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm]
is_a: DOID:4337 ! tinea capitis

[Term]
id: DOID:0050098
name: Microsporum audouinii tinea capitis
def: "An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html]
is_obsolete: true

[Term]
id: DOID:0050099
name: Microsporum canis tinea capitis
def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html]
is_obsolete: true

[Term]
id: DOID:0050100
name: Microsporum distortum tinea capitis
def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html]
is_obsolete: true

[Term]
id: DOID:0050101
name: Microsporum ferrugineum tinea capitis
def: "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html]
is_obsolete: true

[Term]
id: DOID:0050102
name: Microsporum gypseum tinea capitis
def: "An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions." [url:http\://archderm.highwire.org/cgi/reprint/64/3/309.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html, url:http\://www.springerlink.com/content/q856g32375864654/fulltext.pdf]
is_obsolete: true

[Term]
id: DOID:0050103
name: Microsporum nanum tinea capitis
def: "An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans." [url:http\://www.jstor.org/stable/pdfplus/3756652.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html]
is_obsolete: true

[Term]
id: DOID:0050104
name: Trichophyton verrucosum tinea capitis
def: "An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html]
is_obsolete: true

[Term]
id: DOID:0050105
name: endothrix infectious disease
def: "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/]
is_a: DOID:4337 ! tinea capitis

[Term]
id: DOID:0050106
name: Trichophyton soudanense tinea capitis
def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html]
is_obsolete: true

[Term]
id: DOID:0050107
name: Trichophyton tonsurans tinea capitis
def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html]
is_obsolete: true

[Term]
id: DOID:0050108
name: Trichophyton violaceum tinea capitis
def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like \"black dots\"." [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html]
is_obsolete: true

[Term]
id: DOID:0050110
name: Trichophyton schoenleinii tinea capitis
def: "A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html]
is_obsolete: true

[Term]
id: DOID:0050111
name: Microsporum fulvum tinea capitis
def: "An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html]
is_obsolete: true

[Term]
id: DOID:0050112
name: Trichophyton megninii tinea capitis
def: "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii." [url:http\://emedicine.medscape.com/article/787217-overview, url:http\://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm]
is_obsolete: true

[Term]
id: DOID:0050113
name: Trichophyton equinum tinea capitis
def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html]
is_obsolete: true

[Term]
id: DOID:0050115
name: Trichophyton yaoundei tinea capitis
def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions." [url:http\://en.wikipedia.org/wiki/Trichophyton, url:http\://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf]
is_obsolete: true

[Term]
id: DOID:0050116
name: tinea imbricata
def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." [url:http\://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata]
is_a: DOID:12179 ! tinea corporis

[Term]
id: DOID:0050117
name: disease by infectious agent
alt_id: DOID:10115
alt_id: DOID:11078
alt_id: DOID:1304
alt_id: DOID:1321
alt_id: DOID:2040
alt_id: DOID:2288
alt_id: DOID:3099
alt_id: DOID:4120
alt_id: DOID:4620
alt_id: DOID:5256
alt_id: DOID:945
alt_id: DOID:95
alt_id: DOID:9532
alt_id: DOID:9696
def: "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions." [DO:wk]
synonym: "infectious disease" EXACT []
xref: ICD9CM:079.0
xref: UMLS_CUI:C0001485
is_a: DOID:4 ! disease

[Term]
id: DOID:0050118
name: La Crosse encephalitis
alt_id: DOID:10840
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm]
subset: zoonotic_infectious_disease
synonym: "California Encephalitis" EXACT [MTHICD9_2006:062.5]
synonym: "California virus encephalitis" EXACT []
synonym: "Neuroinvasive California encephalitis virus infection" EXACT [SNOMEDCT_2005_07_31:417075004]
xref: ICD9CM:062.5
xref: MSH:D004670
xref: SNOMEDCT_2010_1_31:186588007
xref: SNOMEDCT_2010_1_31:266103004
xref: SNOMEDCT_2010_1_31:416442006
xref: SNOMEDCT_2010_1_31:417075004
xref: SNOMEDCT_2010_1_31:418531007
xref: SNOMEDCT_2010_1_31:69627004
xref: UMLS_CUI:C0014053
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050119
name: West Nile virus neurological syndrome
def: "A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder." [URL:http\://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php]
subset: zoonotic_infectious_disease
synonym: "West nile neuroinvasive disease" EXACT []
synonym: "WNND" EXACT []
synonym: "WNNS" EXACT []
is_obsolete: true

[Term]
id: DOID:0050120
name: hemophagocytic lymphohistiocytosis
alt_id: DOID:6453
def: "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages." [url:http\://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis, url:http\://www.mayoclinicproceedings.com/inside.asp?AID=57&UID=, url:http\://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso]
comment: Xref MGI.\nMSH:C537250 added from NeuroDevNet [WAK].
synonym: "haemophagocytic syndrome" EXACT []
synonym: "Hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MSH:C537250]
synonym: "Hemophagocytic syndrome" EXACT [NCI2004_11_17:C35439]
synonym: "HPS" EXACT []
xref: ICD10CM:D76.1
xref: ICD9CM:288.4
xref: MSH:C537250
xref: MSH:D051359
xref: NCI:C34792
xref: NCI:C35439
xref: OMIM:267700
xref: OMIM:603552
xref: OMIM:603553
xref: OMIM:608898
xref: OMIM:613101
xref: SNOMEDCT_2010_1_31:127069007
xref: SNOMEDCT_2010_1_31:190958003
xref: SNOMEDCT_2010_1_31:234437005
xref: UMLS_CUI:C0024291
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:0050123
name: tuberculous encephalitis
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050125
name: dengue shock syndrome
def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." [url:http\://en.wikipedia.org/wiki/Dengue_shock_syndrome, url:http\://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645]
subset: zoonotic_infectious_disease
synonym: "DSS" EXACT []
xref: OMIM:614371
is_a: DOID:12205 ! dengue disease

[Term]
id: DOID:0050126
name: Tahyna virus encephalitis
def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures." [url:http\://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf, url:http\://www.cdc.gov/eid/content/15/2/306.htm, url:http\://www.springerlink.com/content/u67424r731431362/]
subset: zoonotic_infectious_disease
synonym: "Tahyna virus infection" RELATED []
synonym: "valtice fever" EXACT []
is_obsolete: true

[Term]
id: DOID:0050127
name: sinusitis
alt_id: DOID:2052
alt_id: DOID:9564
def: "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." [url:http\://en.wikipedia.org/wiki/sinusitis]
xref: ICD9CM:461
xref: ICD9CM:461.9
xref: SNOMEDCT_2010_1_31:155498004
xref: SNOMEDCT_2010_1_31:155501004
xref: SNOMEDCT_2010_1_31:15805002
xref: SNOMEDCT_2010_1_31:195649005
xref: SNOMEDCT_2010_1_31:195653007
xref: SNOMEDCT_2010_1_31:266378004
xref: UMLS_CUI:C0149512
is_a: DOID:1352 ! paranasal sinus disease

[Term]
id: DOID:0050129
name: secretory diarrhea
def: "Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea]
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:0050130
name: osmotic diarrhea
def: "Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea]
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:0050131
name: motility-related diarrhea
def: "Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea]
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:0050132
name: inflammatory diarrhea
def: "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea]
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:0050133
name: superficial mycosis
alt_id: DOID:13370
def: "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host." [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://www.mycology.adelaide.edu.au/Mycoses/]
comment: Adding a UMLS CUI for piedra C2980104.
synonym: "piedra" EXACT []
synonym: "Steroid-modified tinea infection" EXACT [SNOMEDCT_2005_07_31:238435009]
xref: MSH:D010854
xref: SNOMEDCT_2010_1_31:154408001
xref: SNOMEDCT_2010_1_31:238435009
xref: SNOMEDCT_2010_1_31:266218008
xref: SNOMEDCT_2010_1_31:402135006
xref: UMLS_CUI:C0031898
xref: UMLS_CUI:C2980104
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:0050134
name: cutaneous mycosis
def: "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions." [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://jama.ama-assn.org/cgi/reprint/61/6/407]
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:0050135
name: subcutaneous mycosis
def: "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma." [url:http\://www.itg.be/evde/53_Medical_mycologyp3.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/]
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:0050136
name: systemic mycosis
def: "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs." [url:http\://dermnetnz.org/fungal/systemic-mycoses.html, url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006]
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:0050138
name: podoconiosis
is_a: DOID:4976 ! elephantiasis

[Term]
id: DOID:0050139
name: Opisthorchis felineus infectious disease
def: "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage." [url:http\://en.wikipedia.org/wiki/Opisthorchis_felineus]
is_obsolete: true

[Term]
id: DOID:0050140
name: acute diarrhea
def: "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide." [url:http\://en.wikipedia.org/wiki/Diarrhea]
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:0050141
name: intestinal botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins." [url:http\://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html, url:http\://www.who.int/mediacentre/factsheets/fs270/en/]
is_a: DOID:11976 ! botulism

[Term]
id: DOID:0050143
name: asymptomatic dengue
def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms." [url:http\://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0]
subset: zoonotic_infectious_disease
is_a: DOID:12205 ! dengue disease

[Term]
id: DOID:0050144
name: Kartagener syndrome
def: "A syndrome consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19529061]
synonym: "Kartagener's syndrome" EXACT []
xref: MSH:D007619
is_obsolete: true

[Term]
id: DOID:0050145
name: adenoiditis
alt_id: DOID:13750
def: "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing." [url:http\://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false, url:http\://en.wikipedia.org/wiki/Adenoiditis]
synonym: "chronic adenoiditis" EXACT []
xref: ICD9CM:474.01
xref: SNOMEDCT_2010_1_31:195794009
xref: SNOMEDCT_2010_1_31:232420002
xref: UMLS_CUI:C0396023
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:0050146
name: autoimmune glomerulonephritis
is_obsolete: true

[Term]
id: DOID:0050147
name: otomycosis
def: "A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans." [url:http\://en.wikipedia.org/wiki/Otomycosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis]
synonym: "Singapore ear" EXACT []
is_a: DOID:9463 ! otitis externa

[Term]
id: DOID:0050148
name: laryngotracheitis
alt_id: DOID:11795
alt_id: DOID:9390
def: "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis]
xref: ICD9CM:464
xref: ICD9CM:464.2
xref: SNOMEDCT_2010_1_31:155505008
xref: SNOMEDCT_2010_1_31:155508005
xref: SNOMEDCT_2010_1_31:195679003
xref: SNOMEDCT_2010_1_31:195694004
xref: SNOMEDCT_2010_1_31:195697006
xref: SNOMEDCT_2010_1_31:195703007
xref: SNOMEDCT_2010_1_31:276443001
xref: SNOMEDCT_2010_1_31:64375000
xref: SNOMEDCT_2010_1_31:83271005
xref: UMLS_CUI:C0155811
xref: UMLS_CUI:C0155837
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:0050150
name: Pontiac fever
def: "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days." [url:http\://www.cdc.gov/legionella/patient_facts.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/623097]
subset: gram-negative_bacterial_infectious_disease
is_a: DOID:10458 ! legionellosis

[Term]
id: DOID:0050151
name: tracheobronchial tuberculosis
def: "A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever." [url:http\://www.ncbi.nlm.nih.gov/pubmed/9122509]
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050152
name: aspiration pneumonia
def: "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough." [url:http\://scalpel.stanford.edu/articles/aspiration--NEJM.pdf]
xref: MSH:D011015
xref: NCI:C34932
xref: SNOMEDCT_2010_1_31:422588002
xref: SNOMEDCT_2010_1_31:47839005
xref: UMLS_CUI:C0032290
is_a: DOID:874 ! bacterial pneumonia

[Term]
id: DOID:0050153
name: pulmonary aspergilloma
def: "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001326.htm]
is_a: DOID:13564 ! aspergillosis

[Term]
id: DOID:0050154
name: mycoplasmal pneumonia
def: "A bacterial pneumonia caused by the genus Mycoplasma." [url:http\://en.wikipedia.org/wiki/Mycoplasma]
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050155
name: sensory system disease
def: "A body system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)." [url:http\://en.wikipedia.org/wiki/Sensory_system]
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:0050156
name: idiopathic pulmonary fibrosis
def: "A idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "cryptogenic fibrosing alveolitis" EXACT []
synonym: "FIBROCYSTIC PULMONARY DYSPLASIA" EXACT []
synonym: "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL" EXACT []
xref: EFO:0000768
xref: MSH:D054990
xref: OMIM:178500
is_a: DOID:2797 ! idiopathic interstitial pneumonia

[Term]
id: DOID:0050157
name: cryptogenic organizing pneumonia
def: "A idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668]
synonym: "Cryptogenic organizing pneumonitis" EXACT []
synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT []
is_a: DOID:2797 ! idiopathic interstitial pneumonia

[Term]
id: DOID:0050158
name: respiratory bronchiolitis-associated interstitial lung disease
def: "A idiopathic interstitial pneumonia which involves bronchiolocentric alveolar macrophage accumulation, mild bronchiolar fibrosis and chronic inflammation. Respiratory bronchiolitis is a histopathologic lesion found in cigarette smokers and is characterized by the presence of pigmented intralumenal macrophages within first- and second-order respiratory bronchioles." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668]
synonym: "RBILD" EXACT []
is_a: DOID:2797 ! idiopathic interstitial pneumonia

[Term]
id: DOID:0050159
name: lymphoid interstitial pneumonia
def: "A idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668]
is_a: DOID:2797 ! idiopathic interstitial pneumonia

[Term]
id: DOID:0050160
name: inhalation anthrax
def: "An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches." [url:http\://chestjournal.chestpubs.org/content/116/5/1369.full, url:http\://www.bt.cdc.gov/agent/anthrax/needtoknow.asp, url:http\://www.ncbi.nlm.nih.gov/pubmed/11988441, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000641.htm]
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "pulmonary anthrax" EXACT []
synonym: "respiratory anthrax" EXACT [MTHICD9_2006:022.1]
synonym: "wool-sorters' disease" EXACT []
synonym: "woolsorters' disease" EXACT []
is_a: DOID:7427 ! anthrax disease

[Term]
id: DOID:0050161
name: lower respiratory tract disease
def: "A respiratory system disease which involves the lower respiratory tract." [url:http\://en.wikipedia.org/wiki/lower_respiratory_tract]
xref: ICD9CM:478.1
xref: ICD9CM:478.19
xref: SNOMEDCT_2010_1_31:195823002
xref: SNOMEDCT_2010_1_31:266346007
xref: UMLS_CUI:C0029581
is_a: DOID:1579 ! respiratory system disease

[Term]
id: DOID:0050162
name: influenza encephalopathy
xref: ICD9CM:487.8
xref: SNOMEDCT_2010_1_31:195927002
xref: SNOMEDCT_2010_1_31:195930009
xref: SNOMEDCT_2010_1_31:61700007
xref: UMLS_CUI:C0155871
is_obsolete: true

[Term]
id: DOID:0050163
name: influenza myocarditis
xref: ICD9CM:487.8
xref: SNOMEDCT_2010_1_31:195927002
xref: SNOMEDCT_2010_1_31:195930009
xref: SNOMEDCT_2010_1_31:61700007
xref: UMLS_CUI:C0155871
is_obsolete: true

[Term]
id: DOID:0050164
name: influenza myositis
xref: ICD9CM:487.8
xref: SNOMEDCT_2010_1_31:195927002
xref: SNOMEDCT_2010_1_31:195930009
xref: SNOMEDCT_2010_1_31:61700007
xref: UMLS_CUI:C0155871
is_obsolete: true

[Term]
id: DOID:0050165
name: tuberculous mesenteric gland
def: "A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain." [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false]
subset: gram-positive_bacterial_infectious_disease
xref: ICD9CM:014.8
xref: UMLS_CUI:C0152724
is_obsolete: true

[Term]
id: DOID:0050166
name: tuberculous salpingitis
def: "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube." [url:http\://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false]
subset: gram-positive_bacterial_infectious_disease
xref: ICD9CM:016.6
xref: SNOMEDCT_2010_1_31:186242002
xref: SNOMEDCT_2010_1_31:186243007
xref: UMLS_CUI:C0152828
is_a: DOID:2149 ! urogenital tuberculosis

[Term]
id: DOID:0050167
name: autoimmune polyendocrine syndrome type 1
def: "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." [sn:IEDB]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT []
synonym: "Autoimmune Polyglandular Syndrome I" EXACT []
synonym: "Whitaker syndrom" EXACT []
is_a: DOID:14040 ! autoimmune polyendocrine syndrome

[Term]
id: DOID:0050168
name: autoimmune polyendocrine syndrome type 2
def: "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2]
synonym: "Schmidt syndrome" EXACT []
is_a: DOID:14040 ! autoimmune polyendocrine syndrome

[Term]
id: DOID:0050169
name: cutaneous lupus erythematosus
def: "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight." [sn:IEDB]
is_a: DOID:37 ! skin disease
is_a: DOID:8857 ! lupus erythematosus

[Term]
id: DOID:0050170
name: Jamestown Canyon encephalitis
def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/10451169]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050171
name: snowshoe hare encephalitis
def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures." [url:http\://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050172
name: trivittatus encephalitis
def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma." [url:http\://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false, url:http\://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS\,ARBOVIRAL_CD.pdf, url:http\://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/10025535]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050173
name: inkoo encephalitis
def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures." [url:http\://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf, url:http\://en.wikipedia.org/wiki/California_encephalitis_virus, url:http\://www.ncbi.nlm.nih.gov/pubmed/10025535, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8760424]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050174
name: Kunjin encephalitis
def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy." [url:http\://www.health.gov.au/internet/main/publishing.nsf/Content/health-arbovirus-pdf-fskunjin.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2552010]
is_a: DOID:2365 ! West Nile encephalitis

[Term]
id: DOID:0050175
name: tick-borne encephalitis
alt_id: DOID:0050176
alt_id: DOID:10251
alt_id: DOID:10252
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm]
subset: tick-borne_infectious_disease
synonym: "Central European encephalitis" EXACT []
synonym: "Far Eastern TBE" EXACT []
synonym: "Russian spring-summer encephalitis" EXACT []
synonym: "Siberian tick-borne encephalitis" EXACT []
synonym: "Taiga encephalitis" EXACT [MTHICD9_2006:063.0]
synonym: "west-Siberian encephalitis" EXACT []
synonym: "Western European tick-borne encephalitis" EXACT [SNOMEDCT_2005_07_31:16901001]
xref: ICD9CM:063.2
xref: MSH:D004675
xref: SNOMEDCT_2010_1_31:16901001
xref: SNOMEDCT_2010_1_31:17648006
xref: SNOMEDCT_2010_1_31:186591007
xref: SNOMEDCT_2010_1_31:359678005
xref: SNOMEDCT_2010_1_31:359682007
xref: SNOMEDCT_2010_1_31:414093008
xref: UMLS_CUI:C0014054
xref: UMLS_CUI:C0276296
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050177
name: monogenic disease
def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." [DO:wk\,ls]
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0050178
name: complex genetic disease
def: "A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele)." [DO:wk]
is_obsolete: true

[Term]
id: DOID:0050179
name: Powassan encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma." [url:http\://chppm-www.apgea.army.mil/ento/facts/Powassan-JusttheFactsJanuary2004.pdf]
subset: tick-borne_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050180
name: Colorado tick fever encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss." [url:http\://www.ncbi.nlm.nih.gov/pubmed/13894744, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2838146]
subset: tick-borne_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050181
name: Herpes simplex virus encephalitis
def: "A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations." [url:http\://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm]
is_obsolete: true

[Term]
id: DOID:0050182
name: Varicella-zoster virus encephalitis
alt_id: DOID:8698
def: "A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias." [url:http\://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/6273449]
synonym: "Herpes zoster encephalitis" EXACT [SNOMEDCT_2005_07_31:186521003, SNOMEDCT_2005_07_31:192692005]
synonym: "Postchickenpox encephalitis" EXACT [MTHICD9_2006:052.0]
synonym: "postvaricella encephalitis" EXACT []
synonym: "Varicella Zoster Encephalitis" EXACT [MTH:NOCODE]
xref: ICD9CM:052.0
xref: MSH:D020804
xref: SNOMEDCT_2010_1_31:186509002
xref: SNOMEDCT_2010_1_31:186521003
xref: SNOMEDCT_2010_1_31:192692005
xref: SNOMEDCT_2010_1_31:230176008
xref: SNOMEDCT_2010_1_31:84669009
xref: UMLS_CUI:C0153017
is_obsolete: true

[Term]
id: DOID:0050183
name: Epstein-Barr virus encephalitis
def: "An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia." [url:http\://www.aafp.org/afp/20000201/letters.html, url:http\://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm]
is_obsolete: true

[Term]
id: DOID:0050184
name: Measles virus encephalitis
alt_id: DOID:9127
def: "A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia." [url:http\://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html, url:http\://www.springerlink.com/content/2020124072032058/]
synonym: "Post measles encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111872008]
synonym: "Post-measles encephalitis" EXACT [SNOMEDCT_2005_07_31:154339003, SNOMEDCT_2005_07_31:186557008, SNOMEDCT_2005_07_31:230178009]
synonym: "postmeasles encephalitis" EXACT []
xref: ICD9CM:055.0
xref: SNOMEDCT_2010_1_31:111872008
xref: SNOMEDCT_2010_1_31:154339003
xref: SNOMEDCT_2010_1_31:186557008
xref: SNOMEDCT_2010_1_31:230178009
xref: UMLS_CUI:C0153048
is_obsolete: true

[Term]
id: DOID:0050185
name: erythema multiforme
def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000851.htm]
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050186
name: Cytomegalovirus encephalitis
def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies." [url:http\://www.ncbi.nlm.nih.gov/pubmed/8815757]
is_obsolete: true

[Term]
id: DOID:0050187
name: Rubella virus encephalitis
alt_id: DOID:9231
def: "A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13489263]
xref: ICD9CM:056.01
xref: SNOMEDCT_2010_1_31:10082001
xref: SNOMEDCT_2010_1_31:128191000
xref: SNOMEDCT_2010_1_31:186569000
xref: UMLS_CUI:C0033359
is_obsolete: true

[Term]
id: DOID:0050188
name: coxsackievirus encephalitis
def: "An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma." [url:http\://books.google.com/books?id=SRpQyCQuxtUC&pg=PA148&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/14464001]
is_obsolete: true

[Term]
id: DOID:0050189
name: polioencephalitis
def: "An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/pubmed/13436875]
is_obsolete: true

[Term]
id: DOID:0050190
name: adenovirus encephalitis
def: "An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures." [url:http\://books.google.com/books?id=SRpQyCQuxtUC&pg=PA70&lpg#v=onepage&q=&f=false, url:http\://cid.oxfordjournals.org/content/31/3/830.full, url:http\://www.medscape.com/viewarticle/414625, url:http\://www.ncbi.nlm.nih.gov/pubmed/15560392]
is_obsolete: true

[Term]
id: DOID:0050191
name: influenza virus encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2053792]
is_obsolete: true

[Term]
id: DOID:0050192
name: Nipah virus encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19141846, url:http\://www.searo.who.int/LinkFiles/CDS_Nipah_Virus.pdf, url:http\://www.who.int/mediacentre/factsheets/fs262/en/]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050193
name: Lymphocytic choriomeningitis virus encephalitis
def: "A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050194
name: Argentine hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations." [url:http\://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever, url:http\://www.jstor.org/stable/30129873?seq=1]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050195
name: Bolivian hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts." [url:http\://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050196
name: Venezuelan hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia." [url:http\://www.paho.org/English/SHA/epibul_95-98/be953vhf.htm]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050197
name: Brazilian hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears." [url:http\://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever, url:http\://www.ncbi.nlm.nih.gov/pubmed/7905555, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/18421377]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050198
name: Chapare hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/18421377]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050199
name: Whitewater Arroyo hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations." [url:http\://jama.ama-assn.org/cgi/content/full/284/10/1237, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1799746]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050200
name: Korean hemorrhagic fever
def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/1349231]
subset: zoonotic_infectious_disease
is_a: DOID:11266 ! hemorrhagic fever with renal syndrome

[Term]
id: DOID:0050201
name: nephropathia epidemica
def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1349231, url:http\://www.ncbi.nlm.nih.gov/pubmed/2574903, url:http\://www.ncbi.nlm.nih.gov/pubmed/2902106]
subset: zoonotic_infectious_disease
is_a: DOID:11266 ! hemorrhagic fever with renal syndrome

[Term]
id: DOID:0050202
name: lujo hemorrhagic fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/19478873]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050203
name: Cytomegalovirus hepatitis
def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood." [url:http\://en.wikipedia.org/wiki/Cytomegalovirus, url:http\://www.ncbi.nlm.nih.gov/pubmed/4300216, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/11380800]
is_obsolete: true

[Term]
id: DOID:0050204
name: Epstein-Barr virus hepatitis
def: "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16711324, url:http\://www.ncbi.nlm.nih.gov/pubmed/17602362]
is_a: DOID:1884 ! viral hepatitis

[Term]
id: DOID:0050205
name: Herpes simplex virus hepatitis
def: "A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions." [url:http\://jcp.bmj.com/content/46/10/968.full.pdf, url:http\://www.jstor.org/stable/20396832, url:http\://www.ncbi.nlm.nih.gov/pubmed/16597901, url:http\://www.ncbi.nlm.nih.gov/pubmed/7006542]
is_obsolete: true

[Term]
id: DOID:0050206
name: adenovirus hepatitis
def: "An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA273&lpg#v=onepage&q=&f=false, url:http\://onlinelibrary.wiley.com/doi/10.1111/j.1399-3046.2010.01443.x/abstract]
is_obsolete: true

[Term]
id: DOID:0050207
name: Rubella virus hepatitis
def: "A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/7550869]
is_obsolete: true

[Term]
id: DOID:0050208
name: yellow fever hepatitis
def: "A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050209
name: Measles virus hepatitis
def: "A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/17068034, url:http\://www.ncbi.nlm.nih.gov/pubmed/3417236]
is_obsolete: true

[Term]
id: DOID:0050210
name: Varicella-zoster virus hepatitis
def: "A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16944014, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8092915]
is_obsolete: true

[Term]
id: DOID:0050211
name: swine influenza
def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." [url:http\://www.cdc.gov/flu/swineflu/key_facts.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/9140195]
subset: zoonotic_infectious_disease
is_a: DOID:8469 ! influenza

[Term]
id: DOID:0050212
name: Campylobacter jejuni gastroenteritis
def: "A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17846438]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Campylobacter Gastroenteritis" EXACT [NCI2004_11_17:C35162]
is_obsolete: true

[Term]
id: DOID:0050213
name: Vibrio gastroenteritis
def: "A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea." [url:http\://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm, url:http\://www.jstor.org/stable/pdfplus/30113106.pdf, url:http\://www.merck.com/mmpe/sec02/ch016/ch016a.html]
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050214
name: Lambert-Eaton myasthenic syndrome
def: "A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal." [url:http\://emedicine.medscape.com/article/1170810-overview, url:http\://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome]
synonym: "Eaton-Lambert syndrome" EXACT [MSH:D015624]
synonym: "Lambert-Eaton syndrome" EXACT [MSH:D015624]
synonym: "LEMS" EXACT []
xref: ICD10CM:G73.1
xref: ICD9CM:358.1
xref: MSH:D015624
is_a: DOID:439 ! neuromuscular junction disease

[Term]
id: DOID:0050215
name: Staphylococcus gastroenteritis
def: "A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122c.html, url:http\://www.springerlink.com/content/pg45520138llh128/]
subset: gram-positive_bacterial_infectious_disease
synonym: "Staphylococcus Aureus Gastroenteritis" EXACT [NCI2004_11_17:C35036]
is_obsolete: true

[Term]
id: DOID:0050216
name: Bacillus cereus gastroenteritis
def: "A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea." [url:http\://www.jstor.org/stable/pdfplus/30112755.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/8501338]
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050217
name: Sapovirus gastroenteritis
def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm, url:http\://www0.nih.go.jp/JJID/61/438.pdf]
is_obsolete: true

[Term]
id: DOID:0050218
name: polycystic echinococcosis
def: "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver." [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm]
synonym: "human polycystic hydatid disease" EXACT []
synonym: "neotropical echinococcosis" EXACT []
is_a: DOID:1496 ! echinococcosis

[Term]
id: DOID:0050219
name: Hepeviridae infectious disease
def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses." [url:http\://en.wikipedia.org/wiki/Hepeviridae, url:http\://www.expasy.org/viralzone/all_by_species/41.html]
is_obsolete: true

[Term]
id: DOID:0050220
name: Coxiella burnetii pneumonia
def: "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission." [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.ncbi.nlm.nih.gov/pubmed/15021054]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Q fever pneumonia" EXACT []
xref: ICD9CM:083.0
xref: MSH:D011778
xref: NCI:C34970
xref: SNOMEDCT_2010_1_31:154375001
xref: SNOMEDCT_2010_1_31:186788009
xref: SNOMEDCT_2010_1_31:260588007
xref: SNOMEDCT_2010_1_31:266205000
xref: SNOMEDCT_2010_1_31:68981009
xref: SNOMEDCT_2010_1_31:86012006
xref: UMLS_CUI:C0034362
is_obsolete: true

[Term]
id: DOID:0050221
name: Coxiella burnetii hepatitis
def: "A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice." [url:http\://www.merck.com/mmpe/sec14/ch177/ch177i.html]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Q fever hepatitis" EXACT []
xref: ICD9CM:083.0
xref: MSH:D011778
xref: NCI:C34970
xref: SNOMEDCT_2010_1_31:154375001
xref: SNOMEDCT_2010_1_31:186788009
xref: SNOMEDCT_2010_1_31:260588007
xref: SNOMEDCT_2010_1_31:266205000
xref: SNOMEDCT_2010_1_31:68981009
xref: SNOMEDCT_2010_1_31:86012006
xref: UMLS_CUI:C0034362
is_obsolete: true

[Term]
id: DOID:0050222
name: selective IgM deficiency disease
def: "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies." [url:http\://en.wikipedia.org/wiki/IgM, url:http\://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency]
is_a: DOID:11702 ! dysgammaglobulinemia

[Term]
id: DOID:0050223
name: candidal gastritis
def: "A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting." [url:http\://books.google.com/books?id=I-qKxu5oE2EC&pg=PA166&lpg=PA166&dq#v=onepage&q=&f=false, url:http\://emedicine.medscape.com/article/213853-overview, url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html]
is_obsolete: true

[Term]
id: DOID:0050224
name: Helicobacter heilmannii infectious disease
def: "A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/10349993]
subset: gram-negative_bacterial_infectious_disease
xref: NCI:C27121
xref: SNOMEDCT_2010_1_31:155716003
xref: SNOMEDCT_2010_1_31:186143000
xref: SNOMEDCT_2010_1_31:196741008
xref: SNOMEDCT_2010_1_31:89538001
xref: UMLS_CUI:C0343378
is_obsolete: true

[Term]
id: DOID:0050225
name: Histoplasma capsulatum gastritis
def: "An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16377536]
is_obsolete: true

[Term]
id: DOID:0050226
name: Morganella morganii intestinal infectious disease
def: "An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17180585]
subset: gram-negative_bacterial_infectious_disease
xref: ICD9CM:008.3
xref: UMLS_CUI:C0152513
is_obsolete: true

[Term]
id: DOID:0050227
name: Vibrio cholerae O139 cholera
def: "A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent]
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050228
name: amebic dysentery
def: "An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever." [url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html]
synonym: "amebic dysentery" EXACT []
synonym: "amoebic dysentery" EXACT []
synonym: "Entamoeba histolytica dysentery" EXACT []
is_obsolete: true

[Term]
id: DOID:0050229
name: Escherichia coli dysentery
def: "An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration." [url:http\://emedicine.medscape.com/article/217485-overview, url:http\://www.jstor.org/stable/pdfplus/30112505.pdf]
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050230
name: intestinal capillariasis
def: "A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea." [url:http\://en.wikipedia.org/wiki/Intestinal_capillariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm]
xref: ICD9CM:127.5
xref: SNOMEDCT_2010_1_31:52979002
xref: UMLS_CUI:C0006897
is_obsolete: true

[Term]
id: DOID:0050231
name: hepatic capillariasis
def: "A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly." [url:http\://en.wikipedia.org/wiki/Capillaria_hepatica, url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm]
xref: ICD9CM:127.5
xref: SNOMEDCT_2010_1_31:52979002
xref: UMLS_CUI:C0006897
is_obsolete: true

[Term]
id: DOID:0050232
name: pulmonary capillariasis
def: "A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm]
xref: ICD9CM:127.5
xref: SNOMEDCT_2010_1_31:52979002
xref: UMLS_CUI:C0006897
is_obsolete: true

[Term]
id: DOID:0050233
name: Balamuthia mandrillaris infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm]
xref: ICD9CM:136.2
xref: SNOMEDCT_2010_1_31:187238006
xref: SNOMEDCT_2010_1_31:266169003
xref: UMLS_CUI:C0153326
is_obsolete: true

[Term]
id: DOID:0050234
name: Acanthamoeba infectious disease
alt_id: DOID:11334
def: "A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system." [url:http\://en.wikipedia.org/wiki/Acanthamoeba]
synonym: "free-living ameba infectious disease" EXACT []
xref: ICD9CM:136.2
xref: SNOMEDCT_2010_1_31:187238006
xref: SNOMEDCT_2010_1_31:266169003
xref: UMLS_CUI:C0153326
is_obsolete: true

[Term]
id: DOID:0050235
name: Alveolata infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes." [url:http\://en.wikipedia.org/wiki/Alveolata]
is_obsolete: true

[Term]
id: DOID:0050236
name: Heterolobosea infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage." [url:http\://tolweb.org/Heterolobosea/96360]
is_obsolete: true

[Term]
id: DOID:0050237
name: Euglenozoa infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates." [url:http\://en.wikipedia.org/wiki/Euglenozoa]
xref: UMLS_CUI:C0085310
is_obsolete: true

[Term]
id: DOID:0050238
name: Parabasalia infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans." [url:http\://en.wikipedia.org/wiki/Parabasalid]
xref: UMLS_CUI:C0085310
is_obsolete: true

[Term]
id: DOID:0050239
name: Fornicata infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell." [url:http\://tolweb.org/Fornicata/121182]
xref: UMLS_CUI:C0085310
is_obsolete: true

[Term]
id: DOID:0050240
name: Trichomonadida infectious disease
def: "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole." [url:http\://en.wikipedia.org/wiki/Trichomonad]
is_obsolete: true

[Term]
id: DOID:0050241
name: Tritrichomonadida infectious disease
def: "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20093080]
is_obsolete: true

[Term]
id: DOID:0050242
name: primary amebic meningoencephalitis
def: "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma." [url:http\://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis, url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm]
synonym: "Naegleria fowleri infection" EXACT []
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:0050243
name: Apicomplexa infectious disease
def: "An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans." [url:http\://en.wikipedia.org/wiki/Apicomplexa]
is_obsolete: true

[Term]
id: DOID:0050244
name: Coccidia infectious disease
def: "An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans." [url:http\://en.wikipedia.org/wiki/Coccidia]
is_obsolete: true

[Term]
id: DOID:0050245
name: Aconoidasida infectious disease
def: "An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida." [url:http\://en.wikipedia.org/wiki/Aconoidasida]
is_obsolete: true

[Term]
id: DOID:0050246
name: granulomatous amebic encephalitis
def: "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death." [url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm]
synonym: "Acanthamoeba encephalitis" EXACT []
synonym: "Acanthamoeba granulomatous encephalitis" EXACT []
synonym: "Granulomatous Amebic Encephalitis due to Acanthamoeba" EXACT []
synonym: "granulomatous amoebic encephalitis" EXACT []
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:0050247
name: parasitic stramenopiles infectious disease
def: "A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms." [url:http\://en.wikipedia.org/wiki/Stramenopiles]
is_obsolete: true

[Term]
id: DOID:0050249
name: Brugia timori filariasis
def: "A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema." [url:http\://en.wikipedia.org/wiki/Brugia_timori]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050250
name: philophthalmiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050251
name: coenurosis
def: "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Coenurosis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050252
name: Dipylidium caninum infectious disease
def: "A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness." [url:http\://en.wikipedia.org/wiki/Dipylidium_caninum, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm]
is_obsolete: true

[Term]
id: DOID:0050253
name: mesocestoidiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050254
name: acanthocephaliasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Acanthocephaliasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050255
name: Uncinaria stenocephala infectious disease
def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections." [url:http\://en.wikipedia.org/wiki/Uncinaria_stenocephala]
is_obsolete: true

[Term]
id: DOID:0050256
name: angiostrongyliasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050257
name: Angiostrongylus cantonensis infectious disease
def: "An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm]
is_obsolete: true

[Term]
id: DOID:0050258
name: Angiostrongylus costaricensis infectious disease
def: "An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5527668]
is_obsolete: true

[Term]
id: DOID:0050259
name: baylisascariasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Baylisascariasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050260
name: dioctophymiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050261
name: thelaziasis
def: "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm]
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050262
name: Acoelomata infectious disease
def: "A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity." [url:http\://en.wikipedia.org/wiki/Flatworm]
is_obsolete: true

[Term]
id: DOID:0050263
name: Pseudocoelomata infectious disease
def: "A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals." [url:http\://en.wikipedia.org/wiki/Body_cavity]
is_obsolete: true

[Term]
id: DOID:0050264
name: Acanthocephala infectious disease
def: "A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host." [url:http\://en.wikipedia.org/wiki/Acanthocephala]
is_obsolete: true

[Term]
id: DOID:0050265
name: tick paralysis
is_obsolete: true

[Term]
id: DOID:0050266
name: tungiasis
def: "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo." [url:http\://en.wikipedia.org/wiki/Tungiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm]
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:0050267
name: Ancylostoma caninum ancylostomiasis
def: "An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm]
is_obsolete: true

[Term]
id: DOID:0050268
name: ophthalmomyiasis
def: "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain." [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm]
is_a: DOID:11080 ! myiasis

[Term]
id: DOID:0050269
name: Trichomonas vaginalis trichomoniasis
def: "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge." [url:http\://en.wikipedia.org/wiki/Trichomoniasis]
synonym: "urogenital trichomonas" EXACT []
is_obsolete: true

[Term]
id: DOID:0050270
name: Trichomonas tenax trichomoniasis
def: "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20427914]
is_obsolete: true

[Term]
id: DOID:0050271
name: cutaneous ascomycota mycosis
def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota]
is_obsolete: true

[Term]
id: DOID:0050272
name: cutaneous basidiomycota mycosis
def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota]
is_obsolete: true

[Term]
id: DOID:0050273
name: Neoscytalidium dimidiatum infectious disease
def: "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed." [url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17641983]
is_obsolete: true

[Term]
id: DOID:0050274
name: Scopulariopsis infectious disease
def: "An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals." [url:http\://www.doctorfungus.org/thefungi/scopulariopsis.htm]
is_obsolete: true

[Term]
id: DOID:0050275
name: onychomycosis
def: "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed." [url:http\://en.wikipedia.org/wiki/Onychomycosis, url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis]
xref: ICD9CM:681.9
xref: UMLS_CUI:C0007644
is_obsolete: true

[Term]
id: DOID:0050276
name: subcutaneous ascomycota mycosis
def: "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://en.wikipedia.org/wiki/Mycosis]
is_obsolete: true

[Term]
id: DOID:0050277
name: subcutaneous fungi incertae sedis mycosis
def: "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members." [url:http\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock]
is_obsolete: true

[Term]
id: DOID:0050278
name: basidiobolomycosis
def: "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/]
is_a: DOID:0050135 ! subcutaneous mycosis

[Term]
id: DOID:0050279
name: conidiobolomycosis
def: "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/]
is_a: DOID:0050135 ! subcutaneous mycosis

[Term]
id: DOID:0050280
name: superficial ascomycota mycosis
def: "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota]
is_obsolete: true

[Term]
id: DOID:0050281
name: superficial basidiomycota mycosis
def: "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota]
is_obsolete: true

[Term]
id: DOID:0050282
name: primary systemic ascomycota mycosis
def: "A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/]
is_obsolete: true

[Term]
id: DOID:0050283
name: Stachybotrys infectious disease
def: "A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants." [url:http\://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf, url:http\://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf]
is_obsolete: true

[Term]
id: DOID:0050284
name: opportunistic ascomycota mycosis
def: "An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/]
is_obsolete: true

[Term]
id: DOID:0050285
name: opportunistic basidiomycota mycosis
def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/]
is_obsolete: true

[Term]
id: DOID:0050286
name: opportunistic fungi incertae sedis mycosis
def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members." [url:http\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock]
is_obsolete: true

[Term]
id: DOID:0050287
name: opportunistic microsporidia mycosis
def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members." [url:http\://en.wikipedia.org/wiki/Microsporidia, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/]
is_obsolete: true

[Term]
id: DOID:0050288
name: penicilliosis
def: "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16418525]
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:0050289
name: fusariosis
def: "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma." [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4, url:http\://www.ncbi.nlm.nih.gov/pubmed/14748803]
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:0050290
name: trichosporonosis
def: "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body." [url:http\://emedicine.medscape.com/article/230705-overview]
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:0050291
name: parasitic Ichthyosporea infectious disease
def: "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals." [url:http\://en.wikipedia.org/wiki/Mesomycetozoea]
is_a: DOID:1398 ! parasitic infectious disease

[Term]
id: DOID:0050292
name: primary systemic mycosis
def: "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract." [url:http\://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/]
is_a: DOID:0050136 ! systemic mycosis

[Term]
id: DOID:0050293
name: Scopulariopsis brevicaulis infectious disease
def: "An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed." [url:http\://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm]
is_obsolete: true

[Term]
id: DOID:0050294
name: Scytalidium hyalinum infectious disease
def: "A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface." [url:http\://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/444431]
is_obsolete: true

[Term]
id: DOID:0050295
name: cutaneous sporotrichosis
def: "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/, url:http\://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm]
synonym: "plaque sporotrichosis" EXACT []
is_obsolete: true

[Term]
id: DOID:0050296
name: Asfarviridae infectious disease
def: "A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite." [url:http\://en.wikipedia.org/wiki/Asfarviridae]
is_obsolete: true

[Term]
id: DOID:0050297
name: primary Francisellaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050298
name: adenovirus infectious disease
alt_id: DOID:3123
alt_id: DOID:3124
def: "A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses." [url:http\://en.wikipedia.org/wiki/Adenoviridae]
synonym: "Adenoviridae infectious disease" EXACT []
xref: MSH:D000257
xref: SNOMEDCT_2010_1_31:154371005
xref: SNOMEDCT_2010_1_31:186742003
xref: SNOMEDCT_2010_1_31:187465002
xref: SNOMEDCT_2010_1_31:25225006
xref: SNOMEDCT_2010_1_31:266203007
xref: UMLS_CUI:C0001486
is_obsolete: true

[Term]
id: DOID:0050299
name: Simplexvirus infectious disease
def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus." [url:http\://en.wikipedia.org/wiki/Simplexvirus]
is_obsolete: true

[Term]
id: DOID:0050300
name: Deltavirus infectious disease
def: "A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus." [url:http\://en.wikipedia.org/wiki/Deltavirus]
is_obsolete: true

[Term]
id: DOID:0050301
name: Polyomaviridae infectious disease
def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses." [url:http\://en.wikipedia.org/wiki/Papillomaviridae]
is_obsolete: true

[Term]
id: DOID:0050302
name: Varicellovirus infectious disease
def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus." [url:http\://en.wikipedia.org/wiki/Varicellovirus, url:http\://www.expasy.org/viralzone/all_by_species/179.html]
is_obsolete: true

[Term]
id: DOID:0050303
name: Hepacivirus infectious disease
def: "A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion." [url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.expasy.org/viralzone/all_by_species/37.html]
is_obsolete: true

[Term]
id: DOID:0050304
name: aniseikonia
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:0050305
name: Arteriviridae infectious disease
def: "A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses." [url:http\://www.expasy.org/viralzone/all_by_species/28.html]
is_obsolete: true

[Term]
id: DOID:0050306
name: familial abdominal aortic aneurysm
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:100070
is_obsolete: true

[Term]
id: DOID:0050307
name: Bornaviridae infectious disease
def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses." [url:http\://en.wikipedia.org/wiki/Bornaviridae]
is_obsolete: true

[Term]
id: DOID:0050308
name: Alkhurma hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever." [url:http\://en.wikipedia.org/wiki/Alkhurma_virus, url:www.episouth.org/download.php?&id=7266]
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
is_a: DOID:11320 ! Kyasanur forest disease

[Term]
id: DOID:0050309
name: Measles virus infectious disease
def: "A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person." [url:http\://en.wikipedia.org/wiki/Measles]
is_obsolete: true

[Term]
id: DOID:0050310
name: primary Listeriaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050311
name: primary Helicobacteraceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050312
name: primary Campylobacteraceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050313
name: primary Brucellaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050314
name: primary Erysipelotrichaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050315
name: commensal Clostridiaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050316
name: commensal Staphylococcaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050317
name: commensal Streptococcaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050318
name: primary Burkholderiaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050319
name: primary Legionellaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050320
name: commensal Alcaligenaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050321
name: opportunistic Pseudomonadaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050322
name: primary Vibrionaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050323
name: primary Coxiellaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050324
name: physical disorder OBSOLETED TERM
def: "A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM)." [url:http\://en.wikipedia.org/wiki/Physical_disorder]
is_obsolete: true

[Term]
id: DOID:0050325
name: genetic disorder
def: "A medical disorder that is an illness caused by abnormalities in genes or chromosomes." [url:http\://en.wikipedia.org/wiki/Genetic_disorder, url:http\://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml]
is_obsolete: true

[Term]
id: DOID:0050327
name: peripheral dysostosis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation" EXACT []
xref: OMIM:170700
is_obsolete: true

[Term]
id: DOID:0050328
name: congenital hypothyroidism
alt_id: DOID:11631
alt_id: DOID:11632
def: "A hypothyroidism that is present at birth." [url:http\://en.wikipedia.org/wiki/Congenital_hypothyroidism, url:http\://ghr.nlm.nih.gov/condition/congenital-hypothyroidism]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "cretinism" EXACT [CSP2005:2928-6883]
xref: ICD9CM:243
xref: MSH:D003409
xref: NCI:C26734
xref: OMIM:218700
xref: OMIM:225250
xref: OMIM:274400
xref: OMIM:274500
xref: OMIM:274900
xref: OMIM:275100
xref: OMIM:275200
xref: OMIM:607200
xref: OMIM:609893
xref: OMIM:614450
xref: SNOMEDCT_2010_1_31:154660000
xref: SNOMEDCT_2010_1_31:154661001
xref: SNOMEDCT_2010_1_31:190268003
xref: SNOMEDCT_2010_1_31:190273009
xref: SNOMEDCT_2010_1_31:190312009
xref: SNOMEDCT_2010_1_31:217710005
xref: SNOMEDCT_2010_1_31:237563007
xref: SNOMEDCT_2010_1_31:267376007
xref: SNOMEDCT_2010_1_31:267465007
xref: SNOMEDCT_2010_1_31:3614006
xref: SNOMEDCT_2010_1_31:75065003
xref: UMLS_CUI:C0010308
xref: UMLS_CUI:C0342200
is_a: DOID:1459 ! hypothyroidism

[Term]
id: DOID:0050329
name: mental disorder
def: "A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture." [url:http\://en.wikipedia.org/wiki/Classification_of_mental_disorders, url:http\://en.wikipedia.org/wiki/Mental_disorder]
is_obsolete: true

[Term]
id: DOID:0050330
name: pulmonary hemosiderosis
xref: OMIM:178550
is_obsolete: true

[Term]
id: DOID:0050331
name: LADD syndrome
def: "An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "lacrimoauriculodentodigital syndrome" EXACT []
synonym: "LEVY-HOLLISTER SYNDROME" EXACT []
xref: OMIM:149730
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050332
name: enlarged vestibular aqueduct
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:600791
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:0050333
name: congenital anosmia
xref: OMIM:107200
is_obsolete: true

[Term]
id: DOID:0050334
name: thiourea tasting
synonym: "PHENYLTHIOCARBAMIDE TASTING, INCLUDED" EXACT []
synonym: "PROPYLTHIOURACIL TASTING, INCLUDED" EXACT []
xref: OMIM:171200
is_obsolete: true

[Term]
id: DOID:0050335
name: bradyopsia
synonym: "PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION" EXACT []
xref: OMIM:608415
is_obsolete: true

[Term]
id: DOID:0050336
name: hypophosphatemia
is_a: DOID:2485 ! phosphorus metabolism disease

[Term]
id: DOID:0050337
name: Burkholderia cepacia infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050338
name: primary bacterial infectious disease
def: "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." [url:http\://en.wikipedia.org/wiki/Infectious_disease]
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:0050339
name: commensal bacterial infectious disease
def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [url:http\://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false]
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:0050340
name: opportunistic bacterial infectious disease
def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545]
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:0050341
name: opportunistic Actinomycetales infectious disease
subset: gram-positive_bacterial_infectious_disease
xref: MSH:D000193
xref: NCI:C84534
xref: UMLS_CUI:C0001255
is_obsolete: true

[Term]
id: DOID:0050342
name: commensal Actinomycetales infectious disease
def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora." [url:www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf]
subset: gram-positive_bacterial_infectious_disease
xref: MSH:D000193
xref: NCI:C84534
xref: UMLS_CUI:C0001255
is_obsolete: true

[Term]
id: DOID:0050343
name: Gardnerella vaginalis vaginosis
is_obsolete: true

[Term]
id: DOID:0050344
name: commensal Bifidobacteriaceae infectious disease
is_obsolete: true

[Term]
id: DOID:0050345
name: primary Thermomonosporaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050346
name: primary Corynebacteriaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050347
name: primary Mycobacteriaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050348
name: primary Streptomycetaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050349
name: opportunistic Nocardiaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050350
name: primary Clostridiaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050351
name: primary Clostridium infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050352
name: foodborne botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis." [url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf]
subset: GOLD
subset: gram-positive_bacterial_infectious_disease
is_a: DOID:11976 ! botulism

[Term]
id: DOID:0050353
name: wound botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins." [url:http\://www.who.int/mediacentre/factsheets/fs270/en/]
subset: gram-positive_bacterial_infectious_disease
is_a: DOID:11976 ! botulism

[Term]
id: DOID:0050354
name: infant botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness." [url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf]
subset: gram-positive_bacterial_infectious_disease
is_a: DOID:11976 ! botulism

[Term]
id: DOID:0050355
name: opportunistic Burkholderiaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050357
name: Burkholderia cenocepacia infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050358
name: commensal Chlamydiaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D002694
xref: UMLS_CUI:C0008153
is_obsolete: true

[Term]
id: DOID:0050359
name: Bilophila wadsworthia necrotizing fasciitis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050360
name: commensal Enterobacteriaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D004756
xref: SNOMEDCT_2010_1_31:128945009
xref: UMLS_CUI:C0014347
is_obsolete: true

[Term]
id: DOID:0050361
name: opportunistic Enterobacteriaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D004756
xref: SNOMEDCT_2010_1_31:128945009
xref: UMLS_CUI:C0014347
is_obsolete: true

[Term]
id: DOID:0050362
name: Elizabethkingia meningoseptica infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050363
name: Capnocytophaga canimorsus infectious disease
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050364
name: opportunistic Flavobacteriaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D045826
xref: UMLS_CUI:C1258223
is_obsolete: true

[Term]
id: DOID:0050365
name: Chryseobacterium indologenes infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050366
name: Empedobacter brevis endophthalmitis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050367
name: Myroides odoratus necrotizing fasciitis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050368
name: commensal Fusobacteriaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D045825
xref: UMLS_CUI:C1258222
is_obsolete: true

[Term]
id: DOID:0050369
name: primary Mycoplasmataceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050370
name: commensal Neisseriaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D016870
xref: UMLS_CUI:C0085396
is_obsolete: true

[Term]
id: DOID:0050371
name: commensal Pasteurellaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D016871
xref: UMLS_CUI:C0085397
is_obsolete: true

[Term]
id: DOID:0050372
name: commensal Haemophilus infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050373
name: Leptospiraceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050374
name: Spirochaetaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050375
name: primary Spirillaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050376
name: anaplasmosis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050377
name: Burkholderia cepacia complex infectious disease
alt_id: DOID:0050356
xref: MSH:D019121
xref: UMLS_CUI:C0282677
is_obsolete: true

[Term]
id: DOID:0050378
name: opportunistic Campylobacteraceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050379
name: Campylobacter fetus infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050380
name: Campylobacter coli infectious disease
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050381
name: Chlamydia trachomatis epididymitis
is_obsolete: true

[Term]
id: DOID:0050382
name: glandular tularemia
def: "A tularemia that results_in swelling of regional lymph glands." [url:http\://www.cdc.gov/tularemia/signssymptoms/]
is_a: DOID:2123 ! tularemia

[Term]
id: DOID:0050383
name: typhoidal tularemia
def: "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss." [url:http\://emedicine.medscape.com/article/230923-clinical]
is_a: DOID:2123 ! tularemia

[Term]
id: DOID:0050384
name: commensal Helicobacteraceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050385
name: commensal Helicobacter infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D016481
xref: UMLS_CUI:C0079487
is_obsolete: true

[Term]
id: DOID:0050386
name: Acinetobacter baumannii pneumonia
subset: GOLD
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050387
name: nonpapillary renal cell carcinoma
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:144700
is_a: DOID:4455 ! hereditary renal cell carcinoma

[Term]
id: DOID:0050388
name: Bacteroides fragilis peritonitis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050389
name: Capnocytophaga canimorsus meningitis
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050390
name: Capnocytophaga canimorsus endocarditis
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050391
name: Elizabethkingia meningoseptica meningitis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050392
name: streptococcal necrotizing fasciitis
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050393
name: Chryseobacterium indologenes pneumonia
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050394
name: nocardial pneumonia
is_obsolete: true

[Term]
id: DOID:0050395
name: nocardial cellulitis
is_obsolete: true

[Term]
id: DOID:0050396
name: nocardial keratitis
is_obsolete: true

[Term]
id: DOID:0050397
name: cerebral Bilophila wadsworthia infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050398
name: Carrion's Disease
def: "A primary bacterial infectious disease that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed." [url:http\://emedicine.medscape.com/article/213169-clinical#a0217, url:http\://en.wikipedia.org/wiki/Carrion%27s_disease]
synonym: "Carrion Disease" EXACT []
synonym: "oroya fever" EXACT []
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:0050399
name: Bordetella pertussis whooping cough
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D001885
xref: SNOMEDCT_2010_1_31:26484003
xref: UMLS_CUI:C0006015
is_obsolete: true

[Term]
id: DOID:0050400
name: Pseudomonas urinary tract infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050401
name: Pseudomonas endocarditis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050402
name: Pseudomonas keratitis
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050403
name: commensal Mycoplasmatales infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D009180
xref: UMLS_CUI:C0026945
is_obsolete: true

[Term]
id: DOID:0050404
name: commensal Mycoplasmataceae infectious disease
subset: gram-negative_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050405
name: Mycoplasma genitalium urethritis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050406
name: Yersinia pseudotuberculosis mesenteric lymphadenitis
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050407
name: commensal Mycoplasma infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D009175
xref: SNOMEDCT_2010_1_31:174536008
xref: SNOMEDCT_2010_1_31:186462007
xref: SNOMEDCT_2010_1_31:186464008
xref: SNOMEDCT_2010_1_31:187345008
xref: SNOMEDCT_2010_1_31:367480000
xref: SNOMEDCT_2010_1_31:406595002
xref: SNOMEDCT_2010_1_31:59846002
xref: UMLS_CUI:C0026936
is_obsolete: true

[Term]
id: DOID:0050408
name: Staphylococcus aureus ecthyma
is_obsolete: true

[Term]
id: DOID:0050409
name: Streptococcus pyogenes ecthyma
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050410
name: streptococcal erysipelas
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050411
name: Staphylococcus aureus erysipelas
is_obsolete: true

[Term]
id: DOID:0050412
name: Streptococcus impetigo
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050413
name: Staphylococcus aureus impetigo
is_obsolete: true

[Term]
id: DOID:0050414
name: Streptococcus lymphangitis
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050415
name: Staphylococcus aureus lymphangitis
is_obsolete: true

[Term]
id: DOID:0050416
name: Streptococcus agalactiae meningitis
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050417
name: Streptococcus equisimilis meningitis
subset: gram-positive_bacterial_infectious_disease
synonym: "Streptococcus dysgalactiae subsp. equisimilis meningitis " EXACT []
is_obsolete: true

[Term]
id: DOID:0050418
name: Streptococcus zooepidemicus meningitis
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Streptococcus equi subsp. zooepidemicus meningitis" EXACT []
is_obsolete: true

[Term]
id: DOID:0050419
name: complement factor I deficiency
comment: OMIM mapping confirmed by DO. [SN].
synonym: "C3 INACTIVATOR DEFICIENCY" EXACT []
synonym: "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY" EXACT []
xref: OMIM:610984
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0050420
name: primary Streptococcaceae infectious disease
subset: gram-positive_bacterial_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050421
name: primary streptococcal infectious disease
subset: gram-positive_bacterial_infectious_disease
xref: MSH:D013290
xref: NCI:C87062
xref: SNOMEDCT_2010_1_31:187343001
xref: SNOMEDCT_2010_1_31:85769006
xref: UMLS_CUI:C0038395
is_obsolete: true

[Term]
id: DOID:0050422
name: Yersinia pseudotuberculosis gastroenteritis
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050423
name: enteroaggregative Escherichia coli infectious disease
synonym: "enteroaggregative E.coli infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050424
name: familial adenomatous polyposis
def: "An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer." [DO:ls, url:http\://en.wikipedia.org/wiki/Familial_adenomatous_polyposis, url:http\://www.omim.org/entry/175100?search=adenomatous%20polyposis]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "adenomatous polyposis of the colon" EXACT []
xref: MSH:D011125
xref: OMIM:175100
xref: OMIM:608456
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050425
name: restless legs syndrome
def: "A central nervous system disease characterized_by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them." [url:http\://en.wikipedia.org/wiki/Restless_legs_syndrome, url:http\://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm]
comment: Xref MGI.
synonym: "WED" EXACT []
synonym: "Willis-Ekbom disease" EXACT []
synonym: "Wittmaack-Ekbom syndrome" EXACT []
xref: EFO:0004270
xref: ICD10CM:G25.8
xref: ICD9CM:333.94
xref: MSH:D012148
xref: OMIM:102300
xref: OMIM:608830
xref: OMIM:610438
xref: OMIM:610439
xref: OMIM:611185
xref: OMIM:611242
xref: OMIM:612853
xref: OMIM:615197
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:0050426
name: Stevens-Johnson syndrome
xref: EFO:0004276
xref: MSH:D013262
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050427
name: xeroderma pigmentosum
def: "An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair." [url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract]
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D014983
xref: OMIM:278700
xref: OMIM:278720
xref: OMIM:278730
xref: OMIM:278740
xref: OMIM:278750
xref: OMIM:278760
xref: OMIM:278780
xref: OMIM:610651
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050428
name: nonepidermolytic palmoplantar keratoderma
def: "A palmoplantar keratosis characterized_by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "diffuse nonepidermolytic palmomplantar keratoderma" EXACT []
synonym: "Thost-Unna Syndrome" EXACT []
synonym: "tylosis" EXACT []
synonym: "Unna-Thost Syndrome" EXACT []
xref: MSH:D015776
xref: OMIM:600962
xref: OMIM:613000
xref: OMIM:615735
xref: ORDO:2337
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:0050429
name: Hailey-Hailey disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "BENIGN CHRONIC PEMPHIGUS" EXACT []
synonym: "Pemphigus, Benign Familial" EXACT []
xref: MSH:D016506
xref: OMIM:169600
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050430
name: Sipple syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "MEN2A" EXACT []
synonym: "multiple endocrine neoplasia II" EXACT []
synonym: "multiple endocrine neoplasia type 2a" RELATED []
xref: MSH:D018813
xref: OMIM:171400
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050431
name: arrhythmogenic right ventricular cardiomyopathy
def: "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle." [url:http\://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia, url:http\://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy, url:http\://my.clevelandclinic.org/services/heart/disorders/arvd, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "arrhythmogenic right ventricular dysplasia" EXACT []
synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT []
synonym: "ARVC" EXACT []
synonym: "ARVC cardiomyopathy" EXACT []
synonym: "ARVD" EXACT []
xref: ICD10CM:I42.8
xref: MSH:D019571
xref: OMIM:107970
xref: OMIM:600996
xref: OMIM:602086
xref: OMIM:602087
xref: OMIM:604400
xref: OMIM:604401
xref: OMIM:607450
xref: OMIM:609040
xref: OMIM:610193
xref: OMIM:610476
xref: OMIM:611528
xref: OMIM:615616
xref: ORDO:247
is_a: DOID:0060036 ! intrinsic cardiomyopathy

[Term]
id: DOID:0050432
name: Asperger syndrome
def: "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." [url:http\://en.wikipedia.org/wiki/Asperger_syndrome, url:www.neurodevnet.ca]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:F84.5
xref: MSH:D020817
xref: OMIM:300494
xref: OMIM:300497
xref: OMIM:608631
xref: OMIM:608638
xref: OMIM:608781
xref: OMIM:609954
xref: ORDO:1162
is_a: DOID:0060041 ! autism spectrum disorder

[Term]
id: DOID:0050433
name: fatal familial insomnia
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D034062
xref: OMIM:600072
is_a: DOID:649 ! prion disease

[Term]
id: DOID:0050434
name: Andersen-Tawil syndrome
def: "A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly." [url:http\://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome, url:http\://en.wikipedia.org/wiki/Long_QT_syndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS" EXACT []
synonym: "Andersen syndrome " EXACT []
synonym: "Long QT syndrome 7" EXACT []
xref: MSH:D050030
xref: OMIM:170390
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0050436
name: mulibrey nanism
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Muscle-Liver-Brain-Eye Nanism" EXACT []
synonym: "Perheentupa Syndrome" EXACT []
synonym: "PERICARDIAL CONSTRICTION AND GROWTH FAILURE" EXACT []
xref: MSH:D050336
xref: OMIM:253250
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050437
name: Danon disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ANTOPOL DISEASE" EXACT []
synonym: "PSEUDOGLYCOGENOSIS II" EXACT []
xref: MSH:D052120
xref: OMIM:300257
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:0050438
name: Frasier syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D052159
xref: OMIM:136680
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050439
name: Usher syndrome
def: "A syndrome characterized_by a combination of hearing loss and visual impairment." [url:http\://en.wikipedia.org/wiki/Usher_syndrome]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS].
xref: ICD10CM:H35.5
xref: MSH:D052245
xref: OMIM:276900
xref: OMIM:276901
xref: OMIM:276902
xref: OMIM:276904
xref: OMIM:601067
xref: OMIM:602083
xref: OMIM:602097
xref: OMIM:605472
xref: OMIM:606943
xref: OMIM:611383
xref: OMIM:612632
xref: OMIM:614504
xref: OMIM:614869
xref: OMIM:614990
xref: ORDO:886
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050440
name: familial partial lipodystrophy
def: "A lipodystrophy characterized_by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." [url:http\://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, url:http\://omim.org/entry/608600]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Dunnigan Syndrome" EXACT []
synonym: "Koberling-Dunnigan Syndrome" EXACT []
xref: MSH:D052496
xref: OMIM:151660
xref: OMIM:604367
xref: OMIM:608600
xref: OMIM:613877
xref: OMIM:615238
is_a: DOID:811 ! lipodystrophy

[Term]
id: DOID:0050441
name: mucosulfatidosis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "multiple sulfatase deficiency disease" EXACT []
synonym: "Sulfatidosis, Juvenile, Austin Type" EXACT []
xref: MSH:D052517
xref: OMIM:272200
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:0050444
name: infantile refsum disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "INFANTILE PHYTANIC ACID STORAGE DISEASE" EXACT []
xref: MSH:D052919
xref: OMIM:266510
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0050445
name: X-linked hypophosphatemia
def: "A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene." [url:http\://emedicine.medscape.com/article/922305-overview, url:http\://en.wikipedia.org/wiki/X-linked_hypophosphatemia, url:http\://xlhnetwork.org/]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Hypophosphatemia, Vitamin D-Resistant Rickets" EXACT []
synonym: "hypophosphatemic rickets X-linked dominant" EXACT []
synonym: "Rickets, Hypophosphatemic" EXACT []
synonym: "Rickets, Vitamin D-Resistant" EXACT []
synonym: "Vitamin D-Resistant Rickets, X-Linked" EXACT []
synonym: "X-Linked Hypophosphatemia" EXACT []
xref: MSH:D053098
xref: OMIM:193100
xref: OMIM:241520
xref: OMIM:300554
xref: OMIM:307800
xref: OMIM:613312
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0050448
name: hereditary mucosal leukokeratosis
def: "A skin disease characterized_by a defect in the normal process of keratinization of the mucosa." [url:http\://en.wikipedia.org/wiki/White_sponge_nevus, url:http\://omim.org/entry/193900]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "white sponge nevus" EXACT []
synonym: "white sponge nevus of Cannon" EXACT []
xref: ICD10CM:Q38.6
xref: ICD9CM:750.26
xref: MSH:D053529
xref: OMIM:193900
xref: OMIM:615785
xref: ORDO:171723
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050449
name: pachyonychia congenita
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Jackson-Lawler Type Pachyonychia Congenita" EXACT []
synonym: "Jadassohn-Lewandowsky Syndrome" EXACT []
synonym: "Pachyonychia Congenita Type 1" EXACT []
synonym: "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE" EXACT []
xref: MSH:D053549
xref: OMIM:167200
xref: OMIM:167210
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050450
name: Gitelman syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA" EXACT []
xref: MSH:D053579
xref: OMIM:263800
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0050451
name: Brugada syndrome
def: "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death." [url:http\://en.wikipedia.org/wiki/Brugada_syndrome]
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D053840
xref: OMIM:601144
xref: OMIM:611777
xref: OMIM:611875
xref: OMIM:611876
xref: OMIM:612838
xref: OMIM:613119
xref: OMIM:613120
xref: OMIM:613123
is_a: DOID:10273 ! heart conduction disease

[Term]
id: DOID:0050452
name: mevalonic aciduria
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Mevalonate Kinase Deficiency" EXACT []
xref: MSH:D054078
xref: OMIM:610377
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0050453
name: lissencephaly
def: "A congenital nervous system abnormality characterized_by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation." [url:http\://en.wikipedia.org/wiki/Lissencephaly, url:http\://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:Q04.3
xref: ICD9CM:742.2
xref: MSH:D054082
xref: OMIM:257320
xref: OMIM:300067
xref: OMIM:300215
xref: OMIM:607432
xref: OMIM:611603
xref: OMIM:614019
xref: OMIM:615191
xref: ORDO:102009
is_a: DOID:2490 ! congenital nervous system abnormality

[Term]
id: DOID:0050454
name: periventricular nodular heterotopia
def: "A congenital nervous system abnormality characterized_by non proper migration of neurons during the early development of the fetal brain." [url:http\://ghr.nlm.nih.gov/condition/periventricular-heterotopia]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "periventricular heterotopia" EXACT []
xref: ICD10CM:Q04.8
xref: MSH:D054091
xref: OMIM:300049
xref: OMIM:300537
xref: OMIM:608097
xref: OMIM:608098
xref: OMIM:612881
xref: OMIM:615544
xref: ORDO:98892
is_a: DOID:2490 ! congenital nervous system abnormality

[Term]
id: DOID:0050455
name: arachnodactyly
xref: MSH:D054119
is_obsolete: true

[Term]
id: DOID:0050456
name: Buruli ulcer disease
def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin." [url:http\://en.wikipedia.org/wiki/Buruli_ulcer, url:http\://www.who.int/mediacentre/factsheets/fs199/en/]
synonym: "Bairnsdale ulcer" EXACT []
synonym: "Daintree ulcer" EXACT []
synonym: "Mossman ulcer" EXACT []
synonym: "Searl ulcer" EXACT []
synonym: "Searle's ulcer" EXACT []
xref: MSH:D054312
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:0050457
name: Sertoli cell-only syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "DEL CASTILLO SYNDROME" EXACT []
synonym: "Germinal Cell Aplasia" EXACT []
xref: MSH:D054331
xref: OMIM:305700
xref: OMIM:400042
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:0050458
name: juvenile myelomonocytic leukemia
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D054429
xref: OMIM:607785
is_a: DOID:4972 ! myelodysplastic myeloproliferative cancer

[Term]
id: DOID:0050459
name: hyperphosphatemia
xref: MSH:D054559
is_a: DOID:2485 ! phosphorus metabolism disease

[Term]
id: DOID:0050460
name: Wolf-Hirschhorn syndrome
alt_id: DOID:6684
comment: OMIM mapping confirmed by DO. [LS].
synonym: "4p deletion syndrome" EXACT []
synonym: "CHROMOSOME 4p16.3 DELETION SYNDROME" EXACT []
synonym: "PITT SYNDROME" EXACT []
synonym: "Pitt-Rogers-Danks Syndrome" EXACT []
xref: MSH:D054877
xref: OMIM:194190
xref: UMLS_CUI:C0795810
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:0050461
name: aspartylglucosaminuria
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ASPARTYLGLUCOSAMINIDASE DEFICIENCY" EXACT []
synonym: "aspartylglycosaminuria" EXACT []
synonym: "GLYCOSYLASPARAGINASE DEFICIENCY" EXACT []
xref: MSH:D054880
xref: OMIM:208400
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:0050462
name: Antley-Bixler syndrome
def: "An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene." [url:http\://en.wikipedia.org/wiki/Antley-Bixler_syndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "trapezoidocephaly-synostosis syndrome" EXACT []
xref: MSH:D054882
xref: OMIM:201750
xref: OMIM:207410
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050463
name: campomelic dysplasia
def: "An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur." [url:http\://en.wikipedia.org/wiki/Campomelic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/campomelic-dysplasia, url:http\://www.healthline.com/galecontent/campomelic-dysplasia-1]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Acampomelic Campomelic Dysplasia" EXACT []
xref: MSH:D055036
xref: OMIM:114290
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050464
name: Farber lipogranulomatosis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Acid Ceramidase Deficiency" EXACT []
synonym: "Farber Disease" EXACT []
synonym: "N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY" EXACT []
xref: MSH:D055577
xref: OMIM:228000
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:0050465
name: Muir-Torre syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D055653
xref: OMIM:158320
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0050466
name: Loeys-Dietz syndrome
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:Q87.4
xref: MSH:D055947
xref: OMIM:608967
xref: OMIM:609192
xref: OMIM:610168
xref: OMIM:610380
xref: OMIM:613795
xref: OMIM:614816
xref: ORDO:60030
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050467
name: erythrokeratodermia variabilis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Erythrokeratodermia Figurata Variabilis" EXACT []
synonym: "Greither Disease" EXACT []
xref: MSH:D056266
xref: OMIM:133200
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050468
name: yellow nail syndrome
def: "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached." [url:http\://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract]
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D056684
xref: OMIM:153300
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050469
name: Costello syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Faciocutaneoskeletal Syndrome" EXACT []
synonym: "FCS SYNDROME" EXACT []
xref: MSH:D056685
xref: OMIM:218040
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050470
name: Donohue Syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Leprechaunism" EXACT []
xref: MSH:D056731
xref: OMIM:246200
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050471
name: Carney complex
def: "An autosomal dominant disease characterized_by myxomas, spotty pigmentation of the skin and endocrine overactivity." [url:http\://en.wikipedia.org/wiki/Carney_complex, url:http\://ghr.nlm.nih.gov/condition/carney-complex]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Carney Complex, Type 1" EXACT []
synonym: "Carney Complex, Type 2" EXACT []
synonym: "Carney Syndrome" EXACT []
synonym: "LAMB Syndrome" EXACT []
synonym: "NAME Syndrome" EXACT []
xref: ICD10CM:D44.8
xref: MSH:D056733
xref: NCI:C4705
xref: OMIM:160980
xref: OMIM:605244
xref: OMIM:608837
xref: ORDO:1359
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050472
name: monilethrix
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D056734
xref: OMIM:158000
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050473
name: Alstrom syndrome
def: "An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene." [url:http\://en.wikipedia.org/wiki/Alstrom_syndrome]
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D056769
xref: OMIM:203800
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050474
name: Netherton syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: MSH:D056770
xref: OMIM:256500
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050475
name: Weill-Marchesani syndrome
def: "An autosomal genetic disease characterized_by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities." [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS].
synonym: "congenital mesodermal dystrophy" EXACT []
synonym: "GEMSS syndrome" EXACT []
synonym: "Marchesani-Weill Syndrome" EXACT []
synonym: "Mesodermal Dysmorphodystrophy, Congenital" EXACT []
synonym: "Spherophakia Brachymorphia Syndrome" EXACT []
xref: ICD9CM:759.89
xref: MSH:D056846
xref: OMIM:277600
xref: OMIM:608328
xref: OMIM:613195
xref: OMIM:614819
xref: ORDO:3449
is_a: DOID:0050739 ! autosomal genetic disease

[Term]
id: DOID:0050476
name: Barth syndrome
def: "A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin." [url:http\://en.wikipedia.org/wiki/Barth_syndrome, url:http\://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, url:http\://www.ninds.nih.gov/disorders/barth/barth.htm, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "3-methylglutaconicaciduria type 2" EXACT []
synonym: "3-methylglutaconicaciduria type II" EXACT []
synonym: "MGA Type 2" EXACT []
synonym: "MGA type II" EXACT []
xref: MSH:D056889
xref: OMIM:302060
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:0050477
name: Liddle syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Pseudoaldosteronism" EXACT []
xref: MSH:D056929
xref: OMIM:177200
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0050478
name: primary Escherichia coli infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D004927
xref: NCI:C34594
xref: SNOMEDCT_2010_1_31:71057007
xref: UMLS_CUI:C0014836
is_obsolete: true

[Term]
id: DOID:0050479
name: commensal Klebsiella infectious disease
subset: gram-negative_bacterial_infectious_disease
synonym: "Klebsiella infection" EXACT [CSP2005:0368-2705]
xref: MSH:D007710
xref: UMLS_CUI:C0022729
is_obsolete: true

[Term]
id: DOID:0050480
name: epidemic typhus
def: "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium." [url:http\://en.wikipedia.org/wiki/Epidemic_typhus]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "sylvatic typhus" EXACT []
is_a: DOID:11256 ! typhus

[Term]
id: DOID:0050481
name: endemic typhus
alt_id: DOID:0050028
alt_id: DOID:0050029
alt_id: DOID:0050030
alt_id: DOID:0050057
alt_id: DOID:0050058
def: "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash." [url:http\://en.wikipedia.org/wiki/Murine_typhus]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "cat flea rickettsiosis" EXACT []
synonym: "fleaborne typhus" EXACT []
synonym: "murine typhus" EXACT []
synonym: "Rat-Flea Typhus" EXACT []
synonym: "Rickettsia felis spotted fever" EXACT []
synonym: "Shop typhus" RELATED []
synonym: "toulon typhus" EXACT []
synonym: "urban typhus" EXACT []
synonym: "Urban Typhus of Malaya" EXACT []
is_a: DOID:11256 ! typhus

[Term]
id: DOID:0050482
name: lymphangitis-associated rickettsiosis
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050483
name: Rickettsia aeschlimannii spotted fever
is_obsolete: true

[Term]
id: DOID:0050484
name: aneruptive fever
def: "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia." [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Rickettsia helvetica spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050485
name: sennetsu fever
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia." [url:http\://www.ebi.ac.uk/2can/genomes/bacteria/Neorickettsia_sennetsu.html]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Sennetsu ehrlichiosis" EXACT []
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:0050486
name: exanthem
synonym: "exanthema" EXACT []
synonym: "Rash" EXACT []
xref: MSH:D005076
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050487
name: bacterial exanthem
is_a: DOID:0050486 ! exanthem

[Term]
id: DOID:0050488
name: early congenital syphilis
def: "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis." [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html]
subset: gram-negative_bacterial_infectious_disease
is_a: DOID:9856 ! congenital syphilis

[Term]
id: DOID:0050489
name: multinodular goiter
def: "A goiter characterized_by a multinodular enlargement of the thyroid gland." [url:http\://en.wikipedia.org/wiki/Multinodular_goitre]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: OMIM:138800
xref: OMIM:300273
xref: OMIM:606082
xref: ORDO:276399
is_a: DOID:12176 ! goiter

[Term]
id: DOID:0050490
name: parenchymatous neurosyphilis
def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
is_a: DOID:9988 ! tertiary neurosyphilis

[Term]
id: DOID:0050491
name: meningovascular neurosyphilis
def: "A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
is_a: DOID:9988 ! tertiary neurosyphilis

[Term]
id: DOID:0050492
name: tertiary syphilitic encephalitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050493
name: tertiary syphilitic meningitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050494
name: Papillomaviridae infectious disease
def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses." [url:http\://en.wikipedia.org/wiki/Papillomaviridae]
is_obsolete: true

[Term]
id: DOID:0050495
name: exanthema subitum
def: "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck." [url:http\://en.wikipedia.org/wiki/Exanthema_subitum]
synonym: "Roseola Infantum" EXACT []
synonym: "Sixth Disease" EXACT []
xref: MSH:D005077
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050496
name: Banna virus encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache." [url:http\://vir.sgmjournals.org/cgi/reprint/86/4/1147, url:http\://www.cdc.gov/EID/content/14/8/1276.htm]
subset: zoonotic_infectious_disease
is_obsolete: true

[Term]
id: DOID:0050497
name: Anelloviridae infectious disease
def: "A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses." [url:http\://en.wikipedia.org/wiki/Anelloviridae]
is_obsolete: true

[Term]
id: DOID:0050498
name: dsDNA virus infectious disease
def: "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "double stranded DNA virus infectious disease" EXACT []
synonym: "dsDNA virus infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050499
name: ssDNA virus infectious disease
def: "A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "single stranded DNA virus infectious disease" EXACT []
synonym: "ssDNA virus infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050500
name: dsDNA-RT virus infectious disease
def: "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "double stranded DNA reverse transcribing virus infectious disease" EXACT []
synonym: "double stranded DNA-reverse transcribing virus infection" EXACT []
synonym: "dsDNA-RT virus infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050501
name: dsRNA virus infectious disease
def: "A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "double stranded RNA virus infectious disease" EXACT []
synonym: "dsRNA virus infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050502
name: (+)ssRNA virus infectious disease
def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "(+)ssRNA virus infection" EXACT []
synonym: "Positive Stranded ssRNA Virus infectious disease" EXACT []
synonym: "positive-sense single stranded RNA virus infectious disease" EXACT []
synonym: "positive-sense ssRNA virus infection" EXACT []
synonym: "positive-sense ssRNA virus infectious disease" EXACT []
is_obsolete: true

[Term]
id: DOID:0050503
name: (-)ssRNA virus infectious disease
def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "(-)ssRNA virus infection" EXACT []
synonym: "Negative Stranded ssRNA Virus infectious disease" EXACT []
synonym: "negative-sense single stranded RNA virus infectious disease" EXACT []
synonym: "negative-sense ssRNA virus infection" EXACT []
synonym: "negative-sense ssRNA virus infectious disease" EXACT []
is_obsolete: true

[Term]
id: DOID:0050504
name: ssRNA-RT virus infectious disease
def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase." [url:http\://en.wikipedia.org/wiki/Viral_classification]
synonym: "single stranded RNA reverse transcribing virus infectious disease" EXACT []
synonym: "ssRNA-RT virus infection" EXACT []
is_obsolete: true

[Term]
id: DOID:0050505
name: human papilloma virus related anal squamous cell carcinoma
def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus." [url:http\://www.infectagentscancer.com/content/5/1/17]
is_obsolete: true

[Term]
id: DOID:0050506
name: human papilloma virus related vaginal squamous cell carcinoma
def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://emedicine.medscape.com/article/269188-overview]
is_obsolete: true

[Term]
id: DOID:0050507
name: AIDS-related cryptosporidiosis
is_obsolete: true

[Term]
id: DOID:0050508
name: variola major
def: "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions." [url:http\://www.who.int/mediacentre/factsheets/smallpox/en/]
xref: ICD9CM:050.0
is_a: DOID:8736 ! smallpox

[Term]
id: DOID:0050509
name: AIDS-related toxoplasmosis
is_obsolete: true

[Term]
id: DOID:0050510
name: AIDS-related cystoisosporiasis
synonym: "AIDS-related isosporiasis" EXACT []
is_obsolete: true

[Term]
id: DOID:0050511
name: Human torovirus gastroenteritis
def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea." [url:http\://www.jstor.org/stable/30117350]
is_obsolete: true

[Term]
id: DOID:0050512
name: Saffold virus gastroenteritis
def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting." [url:http\://jvi.asm.org/cgi/content/full/83/9/4631, url:http\://www.cdc.gov/EID/content/15/9/1509.htm]
is_obsolete: true

[Term]
id: DOID:0050513
name: spinal polio
def: "A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs." [url:http\://en.wikipedia.org/wiki/Poliomyelitis]
is_a: DOID:0050515 ! paralytic poliomyelitis

[Term]
id: DOID:0050514
name: bulbospinal polio
def: "A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs." [url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms]
is_a: DOID:0050515 ! paralytic poliomyelitis

[Term]
id: DOID:0050515
name: paralytic poliomyelitis
def: "A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." [url:http\://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms]
is_a: DOID:4953 ! poliomyelitis

[Term]
id: DOID:0050516
name: O'nyong'nyong fever
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false]
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050517
name: Barmah Forest virus disease
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." [url:http\://health.vic.gov.au/ideas/bluebook/barmah_forest]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050518
name: Ross River fever
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." [url:http\://en.wikipedia.org/wiki/Ross_River_fever]
subset: zoonotic_infectious_disease
synonym: "Ross River virus disease" EXACT []
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050519
name: Lymphocytic choriomeningitis virus meningitis
def: "A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm]
is_obsolete: true

[Term]
id: DOID:0050520
name: Lymphocytic choriomeningitis virus meningoencephalitis
def: "A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm]
is_obsolete: true

[Term]
id: DOID:0050521
name: Oropouche fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting." [url:http\://en.wikipedia.org/wiki/Oropouche_fever, url:http\://www.cdc.gov/EID/content/13/6/912.htm]
subset: zoonotic_infectious_disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050522
name: Balkan hemorrhagic fever
def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." [url:http\://emedicine.medscape.com/article/982142-overview]
subset: zoonotic_infectious_disease
is_a: DOID:11266 ! hemorrhagic fever with renal syndrome

[Term]
id: DOID:0050523
name: adult T-cell leukemia
def: "A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions." [url:http\://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma]
synonym: "Adult T-cell leukemia/lymphoma" EXACT []
is_a: DOID:715 ! T-cell leukemia

[Term]
id: DOID:0050524
name: maturity-onset diabetes of the young
def: "A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production." [url:http\://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Mason-type diabetes" EXACT []
synonym: "MODY" EXACT []
xref: ICD10CM:E11.8
xref: KEGG:04950
xref: OMIM:125850
xref: OMIM:125851
xref: OMIM:137920
xref: OMIM:600496
xref: OMIM:606391
xref: OMIM:606392
xref: OMIM:606394
xref: OMIM:609812
xref: OMIM:610508
xref: OMIM:612225
xref: OMIM:613370
xref: OMIM:613375
xref: ORDO:552
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0050525
name: acroosteolysis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "acro-osteolysis" EXACT []
synonym: "Acroosteolysis syndrome" RELATED [SNOMEDCT_2005_07_31:27201004]
xref: MSH:D030981
xref: OMIM:102400
is_obsolete: true

[Term]
id: DOID:0050526
name: Gamstorp-Wohlfart syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "MYOKYMIA, MYOTONIA, MUSCLE WASTING, AND HYPERHIDROSIS" EXACT []
xref: OMIM:137200
is_obsolete: true

[Term]
id: DOID:0050527
name: familial hypertriglyceridemia
def: "A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency." [url:http\://en.wikipedia.org/wiki/Familial_hypertriglyceridemia]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Pure hyperglyceridemia" EXACT []
xref: OMIM:145750
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:0050528
name: nonphotosensitive trichothiodystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "AMISH BRITTLE HAIR BRAIN SYNDROME" EXACT []
synonym: "BIDS SYNDROME" EXACT []
synonym: "HAIR-BRAIN SYNDROME" EXACT []
xref: OMIM:234050
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050529
name: adult spinal muscular atrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "SPINAL MUSCULAR ATROPHY, ADULT FORM" EXACT []
synonym: "SPINAL MUSCULAR ATROPHY, TYPE IV" EXACT []
xref: OMIM:271150
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0050530
name: intermediate spinal muscular atrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM" EXACT []
synonym: "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE" EXACT []
xref: OMIM:253550
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0050531
name: lentiginosis profusa
comment: OMIM mapping confirmed by DO. [SN].
synonym: "LENTIGINOSIS, DIFFUSE" EXACT []
synonym: "LENTIGINOSIS, GENERALIZED" EXACT []
synonym: "LENTIGINOSIS, INHERITED PATTERNED" EXACT []
xref: OMIM:151001
is_obsolete: true

[Term]
id: DOID:0050532
name: epidermal nevus
comment: OMIM mapping confirmed by DO. [SN].
synonym: "NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC" EXACT []
synonym: "PIGMENTED MOLES" EXACT []
xref: OMIM:162900
is_obsolete: true

[Term]
id: DOID:0050533
name: soldiers heart
comment: OMIM mapping confirmed by DO. [SN].
synonym: "IRRITABLE HEART" EXACT []
synonym: "MITRAL VALVE PROLAPSE SYNDROME" EXACT []
synonym: "NEUROCIRCULATORY ASTHENIA" EXACT []
synonym: "ORTHOSTATIC INTOLERANCE" EXACT []
xref: OMIM:604715
is_obsolete: true

[Term]
id: DOID:0050534
name: congenital stationary night blindness
def: "A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves." [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "congenital essential nyctalopia" EXACT []
xref: ICD10CM:H53.6
xref: ICD9CM:368.61
xref: OMIM:163500
xref: OMIM:257270
xref: OMIM:300071
xref: OMIM:310500
xref: OMIM:610427
xref: OMIM:610444
xref: OMIM:610445
xref: OMIM:613216
xref: ORDO:215
is_a: DOID:8499 ! night blindness

[Term]
id: DOID:0050535
name: exudative vitreoretinopathy
def: "A retinal vascular disease characterized_by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." [url:http\://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy, url:http\://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "familial exudative vitreoretinopathy" EXACT []
synonym: "FEVR" EXACT []
xref: ICD10CM:H35.0
xref: ICD9CM:362.10
xref: OMIM:133780
xref: OMIM:305390
xref: OMIM:601813
xref: OMIM:605750
xref: OMIM:613310
xref: ORDO:891
is_a: DOID:2462 ! retinal vascular disease

[Term]
id: DOID:0050536
name: SC phocomelia syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Hypomelia Hypotrichosis Facial hemangioma syndrome" EXACT []
synonym: "SC PSEUDOTHALIDOMIDE SYNDROME" EXACT []
xref: OMIM:269000
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050537
name: posterior polar cataract
comment: OMIM mapping confirmed by DO. [SN].
synonym: "CATARACT, POSTERIOR POLAR" EXACT []
xref: OMIM:116600
xref: OMIM:605387
xref: OMIM:610623
xref: OMIM:613763
is_a: DOID:83 ! cataract

[Term]
id: DOID:0050538
name: Charcot-Marie-Tooth disease type 1
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:118200
xref: OMIM:118220
xref: OMIM:118300
xref: OMIM:601098
xref: OMIM:607678
xref: OMIM:607734
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0050539
name: Charcot-Marie-Tooth disease type 2
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:G60.0
xref: ICD9CM:356.0
xref: OMIM:118210
xref: OMIM:600882
xref: OMIM:601472
xref: OMIM:605588
xref: OMIM:605589
xref: OMIM:606071
xref: OMIM:606595
xref: OMIM:607677
xref: OMIM:607684
xref: OMIM:607731
xref: OMIM:607736
xref: OMIM:607831
xref: OMIM:608591
xref: OMIM:608673
xref: OMIM:609260
xref: OMIM:613287
xref: OMIM:614228
xref: OMIM:614436
xref: OMIM:615025
xref: OMIM:615490
xref: ORDO:64746
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0050540
name: Charcot-Marie-Tooth disease type 3
comment: OMIM mapping confirmed by DO. [SN].
synonym: "DEJERINE-SOTTAS NEUROPATHY" EXACT []
synonym: "DEJERINE-SOTTAS SYNDROME" EXACT []
xref: OMIM:145900
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0050541
name: Charcot-Marie-Tooth disease type 4
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: OMIM:145900
xref: OMIM:214400
xref: OMIM:601382
xref: OMIM:601455
xref: OMIM:601596
xref: OMIM:604563
xref: OMIM:605253
xref: OMIM:607706
xref: OMIM:609311
xref: OMIM:611228
xref: OMIM:614895
xref: OMIM:615284
xref: ORDO:64749
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0050542
name: Charcot-Marie-Tooth disease type X
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Cowchock syndrome" EXACT []
synonym: "COWCK" EXACT []
xref: OMIM:300905
xref: OMIM:302800
xref: OMIM:302801
xref: OMIM:302802
xref: OMIM:310490
xref: OMIM:311070
xref: ORDO:64747
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0050543
name: Charcot-Marie-Tooth disease intermediate type
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: OMIM:606482
xref: OMIM:606483
xref: OMIM:607791
xref: OMIM:608323
xref: OMIM:608340
xref: OMIM:613641
xref: OMIM:614455
xref: OMIM:615185
xref: OMIM:615376
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0050544
name: hypermethioninemia
def: "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body." [url:http\://en.wikipedia.org/wiki/Hypermethioninemia]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency" EXACT []
xref: OMIM:613752
xref: OMIM:614300
xref: ORDO:289290
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0050545
name: visceral heterotaxy
def: "A physical disorder characterized_by the abnormal distribution of the major visceral organs within the chest and abdomen." [url:http\://en.wikipedia.org/wiki/Situs_ambiguus]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "heterotaxia" EXACT []
synonym: "situs ambiguus" EXACT []
xref: OMIM:306955
xref: OMIM:605376
xref: OMIM:606325
xref: OMIM:613751
xref: OMIM:614779
xref: ORDO:450
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:0050546
name: congenital adrenal insufficiency
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" EXACT []
synonym: "P450scc DEFICIENCY" EXACT []
xref: OMIM:613743
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:0050547
name: familial medullary thyroid carcinoma
comment: OMIM mapping confirmed by DO. [SN].
synonym: "THYROID CARCINOMA, FAMILIAL MEDULLARY" EXACT []
xref: OMIM:155240
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3973 ! thyroid medullary carcinoma

[Term]
id: DOID:0050548
name: hereditary sensory neuropathy
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "congenital insensitivity to pain" EXACT []
synonym: "familial dysautonomia, type II" EXACT []
synonym: "hereditary sensory and autonomic neuropathy" EXACT []
xref: OMIM:162400
xref: OMIM:201300
xref: OMIM:256800
xref: OMIM:256860
xref: OMIM:310470
xref: OMIM:608088
xref: OMIM:608654
xref: OMIM:613115
xref: OMIM:613640
xref: OMIM:613708
xref: OMIM:614116
xref: OMIM:614213
xref: OMIM:614653
xref: OMIM:615548
xref: OMIM:615632
is_a: DOID:0060053 ! peripheral neuropathy

[Term]
id: DOID:0050549
name: Saldino-Noonan syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "type I short rib polydactyly syndrome" EXACT []
xref: OMIM:263530
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050550
name: Majewski syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "type II short rib-polydactyly syndrome" EXACT []
xref: OMIM:263520
is_obsolete: true

[Term]
id: DOID:0050551
name: Verma-Naumoff syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "type III short rib-polydactyly syndrome" EXACT []
xref: OMIM:263510
is_obsolete: true

[Term]
id: DOID:0050552
name: Sugio-Kajii syndrome
def: "An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)." [url:http\://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "type III trichorhinophalangeal syndrome" EXACT []
xref: OMIM:190351
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050553
name: JMP syndrome
def: "An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy." [url:http\://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf, url:http\://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY" EXACT []
xref: OMIM:613732
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050554
name: X-linked sideroblastic anemia with ataxia
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Anemia sideroblastic and spinocerebellar ataxia" EXACT []
synonym: "X-linked sideroblastic anemia and ataxia" EXACT []
xref: OMIM:301310
is_a: DOID:1441 ! spinocerebellar ataxia

[Term]
id: DOID:0050556
name: infantile onset spinocerebellar ataxia
synonym: "OHAHA SYNDROME" EXACT []
xref: OMIM:271245
is_a: DOID:1441 ! spinocerebellar ataxia

[Term]
id: DOID:0050557
name: congenital muscular dystrophy
def: "A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities." [url:http\://www.ninds.nih.gov/disorders/md/detail_md.htm]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:G71.2
xref: ICD9CM:359.0
xref: OMIM:253900
xref: OMIM:254100
xref: OMIM:602541
xref: OMIM:602771
xref: OMIM:604801
xref: OMIM:606612
xref: OMIM:607855
xref: OMIM:608840
xref: OMIM:609456
xref: OMIM:613204
xref: OMIM:613205
xref: ORDO:97242
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:0050558
name: Ullrich congenital muscular dystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ULLRICH DISEASE" EXACT []
synonym: "Ullrich scleroatonic muscular dystrophy" EXACT []
xref: OMIM:254090
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:0050559
name: Fukuyama congenital muscular dystrophy
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:253800
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:0050560
name: Walker-Warburg syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT []
synonym: "HARD syndrome" EXACT []
xref: OMIM:236670
xref: OMIM:253280
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:0050561
name: Lennox-Gastaut syndrome
synonym: "Lennox syndrome" EXACT []
xref: OMIM:606369
is_a: DOID:0050704 ! childhood electroclinical syndrome

[Term]
id: DOID:0050562
name: West syndrome
is_a: DOID:0050703 ! infancy electroclinical syndrome

[Term]
id: DOID:0050563
name: nonsyndromic deafness
def: "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." [url:http\://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness, url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742]
synonym: "nonsyndromic hearing loss" EXACT []
synonym: "nonsyndromic hereditary hearing loss" EXACT []
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:0050564
name: autosomal dominant nonsyndromic deafness
comment: OMIM mapping confirmed by DO. [SN].
synonym: "autosomal dominant deafness" EXACT []
xref: OMIM:124900
xref: OMIM:600101
xref: OMIM:600652
xref: OMIM:600994
xref: OMIM:601316
xref: OMIM:601317
xref: OMIM:601369
xref: OMIM:601543
xref: OMIM:601544
xref: OMIM:601868
xref: OMIM:602459
xref: OMIM:603622
xref: OMIM:604717
xref: OMIM:605192
xref: OMIM:605583
xref: OMIM:605594
xref: OMIM:606346
xref: OMIM:606705
xref: OMIM:607453
xref: OMIM:607841
xref: OMIM:608641
xref: OMIM:612643
xref: OMIM:612644
xref: OMIM:613074
xref: OMIM:613558
is_a: DOID:0050563 ! nonsyndromic deafness

[Term]
id: DOID:0050565
name: autosomal recessive nonsyndromic deafness
comment: OMIM mapping confirmed by DO. [SN].
synonym: "autosomal recessive deafness" EXACT []
xref: OMIM:220290
xref: OMIM:600060
xref: OMIM:600316
xref: OMIM:600971
xref: OMIM:600974
xref: OMIM:601071
xref: OMIM:601072
xref: OMIM:601386
xref: OMIM:602092
xref: OMIM:603629
xref: OMIM:603720
xref: OMIM:605316
xref: OMIM:607039
xref: OMIM:607084
xref: OMIM:607101
xref: OMIM:607821
xref: OMIM:608265
xref: OMIM:608565
xref: OMIM:609006
xref: OMIM:609533
xref: OMIM:609706
xref: OMIM:609823
xref: OMIM:610153
xref: OMIM:610220
xref: OMIM:610265
xref: OMIM:611022
xref: OMIM:611451
xref: OMIM:612645
xref: OMIM:613079
xref: OMIM:613285
xref: OMIM:613307
xref: OMIM:613391
xref: OMIM:613453
xref: OMIM:613557
is_a: DOID:0050563 ! nonsyndromic deafness

[Term]
id: DOID:0050566
name: X-linked nonsyndromic deafness
comment: OMIM mapping confirmed by DO. [SN].
synonym: "X-linked deafness" EXACT []
xref: OMIM:304400
xref: OMIM:304500
is_a: DOID:0050563 ! nonsyndromic deafness

[Term]
id: DOID:0050567
name: orofacial cleft
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: OMIM:119530
xref: OMIM:600625
xref: OMIM:600757
xref: OMIM:602966
xref: OMIM:608371
xref: OMIM:608864
xref: OMIM:608874
xref: OMIM:610361
xref: OMIM:612858
xref: OMIM:613705
xref: OMIM:613857
xref: OMIM:615892
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:0050568
name: spondylocostal dysostosis
def: "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together." [url:http\://en.wikipedia.org/wiki/Spondylocostal_dysostosis, url:http\://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Jarcho-Levin syndrome" EXACT []
synonym: "spondylocostal dysostosis, autosomal recessive 3 " EXACT []
synonym: "spondylothoracic dysostosis" EXACT []
synonym: "spondylothoracic dysplasia" EXACT []
xref: OMIM:122600
xref: OMIM:277300
xref: OMIM:608681
xref: OMIM:609813
xref: OMIM:613686
xref: ORDO:1797
xref: ORDO:2311
is_a: DOID:1934 ! dysostosis

[Term]
id: DOID:0050569
name: Seckel syndrome
def: "An autosomal recessive disease characterized_by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability." [url:http\://en.wikipedia.org/wiki/Seckel_syndrome]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "bird-headed dwarfism" EXACT []
synonym: "Harper's syndrome" EXACT []
synonym: "microcephalic primordial dwarfism" EXACT []
synonym: "Virchow-Seckel dwarfism" EXACT []
xref: ICD10CM:Q87.1
xref: OMIM:210600
xref: OMIM:606744
xref: OMIM:608664
xref: OMIM:613676
xref: OMIM:613823
xref: OMIM:614728
xref: OMIM:614851
xref: OMIM:615807
xref: ORDO:808
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050570
name: congenital disorder of glycosylation type I
def: "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ALG1-CDG (CDG-1k)" EXACT []
synonym: "ALG11-CDG (CDG-1p)" EXACT []
synonym: "ALG12-CDG (CDG-1g)" EXACT []
synonym: "ALG2-CDG (CDG-1i)" EXACT []
synonym: "ALG3-CDG (CDG-1d)" EXACT []
synonym: "ALG6-CDG (CDG-1c)" EXACT []
synonym: "ALG8-CDG (CDG-1h)" EXACT []
synonym: "ALG9-CDG (CDG-1l)" EXACT []
synonym: "DOLK-CDG (CDG-1m)" EXACT []
synonym: "DPAGT1-CDG (CDG-1j)" EXACT []
synonym: "DPM1-CDG (CDG-1e)" EXACT []
synonym: "DPM2-CDG (CDG-1u)" EXACT []
synonym: "DPM3-CDG (CDG-1o)" EXACT []
synonym: "MPDU1-CDG (CDG-1f)" EXACT []
synonym: "MPI-CDG (CDG-1b)" EXACT []
synonym: "PMM2-CDG (CDG-1a)" EXACT []
synonym: "RFT1-CDG (CDG-1n)" EXACT []
synonym: "SRD5A3-CDG (CDG-1q)" EXACT []
xref: OMIM:212065
xref: OMIM:601110
xref: OMIM:602579
xref: OMIM:603147
xref: OMIM:607143
xref: OMIM:607906
xref: OMIM:608093
xref: OMIM:608104
xref: OMIM:608540
xref: OMIM:608776
xref: OMIM:608799
xref: OMIM:609180
xref: OMIM:610768
xref: OMIM:612015
xref: OMIM:612379
xref: OMIM:612937
xref: OMIM:613661
is_a: DOID:5212 ! congenital disorder of glycosylation

[Term]
id: DOID:0050571
name: congenital disorder of glycosylation type II
def: "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "B4GALT1-CDG (CDG-2d)" EXACT []
synonym: "MGAT2-CDG (CDG-2a)" EXACT []
synonym: "MOGS-CDG (CDG-2b)" EXACT []
xref: OMIM:212066
xref: OMIM:266265
xref: OMIM:603585
xref: OMIM:606056
xref: OMIM:607091
xref: OMIM:608779
xref: OMIM:611182
xref: OMIM:611209
xref: OMIM:613489
xref: OMIM:613612
is_a: DOID:5212 ! congenital disorder of glycosylation

[Term]
id: DOID:0050572
name: cone-rod dystrophy
def: "A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness." [url:http\://www.mdsupport.org/library/conerod.html]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "cone-rod dystrophy 5" EXACT []
synonym: "cone-rod retinal dystrophy" EXACT []
xref: ICD10CM:H35.5
xref: OMIM:120970
xref: OMIM:300085
xref: OMIM:300476
xref: OMIM:304020
xref: OMIM:600624
xref: OMIM:600977
xref: OMIM:601777
xref: OMIM:602093
xref: OMIM:603649
xref: OMIM:604116
xref: OMIM:605549
xref: OMIM:607476
xref: OMIM:608194
xref: OMIM:610283
xref: OMIM:610381
xref: OMIM:612657
xref: OMIM:612775
xref: OMIM:613660
xref: OMIM:614500
xref: OMIM:615163
xref: OMIM:615374
xref: OMIM:615860
xref: OMIM:615973
xref: ORDO:1872
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0050573
name: 2-hydroxyglutaric aciduria
def: "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage." [url:http\://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0050574
name: L-2-hydroxyglutaric aciduria
def: "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]
synonym: "L-2-HYDROXYGLUTARIC ACIDEMIA" EXACT []
xref: OMIM:236792
is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria

[Term]
id: DOID:0050575
name: D-2-hydroxyglutaric aciduria
def: "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]
xref: OMIM:600721
xref: OMIM:613657
is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria

[Term]
id: DOID:0050576
name: Senior-Loken syndrome
def: "An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." [url:http\://www.cigna.com/healthinfo/nord958.html]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Loken Senior syndrome" EXACT []
synonym: "renal-retinal syndrome" EXACT []
xref: ICD10CM:Q61.5
xref: OMIM:266900
xref: OMIM:606995
xref: OMIM:606996
xref: OMIM:609254
xref: OMIM:610189
xref: OMIM:613615
xref: ORDO:3156
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050577
name: Sensenbrenner syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "cranioectodermal dysplasia" EXACT []
synonym: "Levin syndrome" EXACT []
xref: OMIM:218330
xref: OMIM:613610
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050578
name: occult macular dystrophy
def: "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings." [url:www.iovs.org/content/41/2/513.full.pdf]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:613587
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:0050579
name: glycogen storage disease XV
synonym: "glycogen storage disease type XV" EXACT []
xref: OMIM:613507
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:0050580
name: hereditary lymphedema
def: "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system." [url:http\://en.wikipedia.org/wiki/Milroy%27s_disease]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Milroy's disease" EXACT []
synonym: "Nonne-Milroy lymphedema" EXACT []
xref: ICD10CM:Q82.0
xref: ICD9CM:757.0
xref: OMIM:153100
xref: OMIM:153200
xref: OMIM:247440
xref: OMIM:611944
xref: OMIM:613480
xref: OMIM:615907
xref: ORDO:79452
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:0050581
name: brachydactyly
def: "A bone development disease characterized_by short fingers and toes." [url:http\://en.wikipedia.org/wiki/Brachydactyly]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: OMIM:112440
xref: OMIM:112450
xref: OMIM:112500
xref: OMIM:112600
xref: OMIM:112700
xref: OMIM:112800
xref: OMIM:112910
xref: OMIM:113000
xref: OMIM:113100
xref: OMIM:113200
xref: OMIM:113300
xref: OMIM:301940
xref: OMIM:607004
xref: OMIM:611377
xref: OMIM:613382
xref: OMIM:615072
xref: ORDO:294937
is_a: DOID:1934 ! dysostosis

[Term]
id: DOID:0050582
name: distal hereditary motor neuropathy
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:158590
xref: OMIM:600794
xref: OMIM:607641
xref: OMIM:608634
xref: OMIM:613376
is_a: DOID:683 ! motor neuritis

[Term]
id: DOID:0050583
name: Chlamydophila pneumoniae infectious disease
is_obsolete: true

[Term]
id: DOID:0050584
name: gummatous syphilis
def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." [url:http\://emedicine.medscape.com/article/229461-overview#a0104]
is_a: DOID:8200 ! tertiary syphilis

[Term]
id: DOID:0050585
name: congenital generalized lipodystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Beradinelli-Seip syndrome" EXACT []
xref: OMIM:269700
xref: OMIM:608594
xref: OMIM:612526
xref: OMIM:613327
is_a: DOID:811 ! lipodystrophy

[Term]
id: DOID:0050587
name: trichotillomania
def: "An impulse control disorder that involves the uncontrollable plucking of ones hair." [url:http\://www.forensicpsychiatry.ca/impulse/trich.htm]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:613229
is_a: DOID:10937 ! impulse control disorder

[Term]
id: DOID:0050588
name: muscular dystrophy-dystroglycanopathy
comment: Xref MGI.
synonym: "CMD due to dystroglycanopathy" EXACT [ORDO:370953]
xref: ICD10CM:G71.2
xref: OMIM:613150
xref: OMIM:613151
xref: OMIM:613152
xref: OMIM:613153
xref: OMIM:613154
xref: OMIM:613155
xref: OMIM:613156
xref: OMIM:613818
xref: OMIM:614643
xref: OMIM:614830
xref: OMIM:615041
xref: OMIM:615181
xref: OMIM:615249
xref: OMIM:615287
xref: OMIM:615350
xref: OMIM:615351
xref: ORDO:370953
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:0050589
name: inflammatory bowel disease
def: "An intestinal disease characterized by inflammation located_in all parts of digestive tract." [url:http\://en.wikipedia.org/wiki/Inflammatory_bowel_disease, url:http\://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: EFO:0003767
xref: KEGG:05321
xref: MSH:D015212
xref: OMIM:266600
xref: OMIM:601458
xref: OMIM:604519
xref: OMIM:605225
xref: OMIM:606348
xref: OMIM:606668
xref: OMIM:606674
xref: OMIM:606675
xref: OMIM:608448
xref: OMIM:611081
xref: OMIM:612241
xref: OMIM:612244
xref: OMIM:612245
xref: OMIM:612255
xref: OMIM:612259
xref: OMIM:612261
xref: OMIM:612262
xref: OMIM:612278
xref: OMIM:612288
xref: OMIM:612354
xref: OMIM:612380
xref: OMIM:612381
xref: OMIM:612566
xref: OMIM:612567
xref: OMIM:612639
xref: OMIM:612796
xref: OMIM:613148
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:0050590
name: severe congenital neutropenia
def: "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections." [PMID:17133096]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:D70
xref: OMIM:202700
xref: OMIM:300299
xref: OMIM:610738
xref: OMIM:612541
xref: OMIM:613107
xref: OMIM:615285
xref: ORDO:486
xref: ORDO:86788
is_a: DOID:1227 ! neutropenia

[Term]
id: DOID:0050591
name: tooth agenesis
def: "A tooth disease characterized_by failure to develop on or more missing teeth." [url:http\://en.wikipedia.org/wiki/Hypodontia]
comment: Xref MGI.
synonym: "familial tooth agenesis" EXACT []
synonym: "hypodontia" EXACT []
synonym: "oligodontia" EXACT []
synonym: "selective tooth agenesis" EXACT []
xref: ICD10CM:K00.0
xref: ICD9CM:520.0
xref: OMIM:106600
xref: OMIM:150400
xref: OMIM:313500
xref: OMIM:602639
xref: OMIM:604625
xref: OMIM:610926
xref: OMIM:613097
xref: ORDO:2227
xref: ORDO:99798
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:0050592
name: asphyxiating thoracic dystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Jeune syndrome" EXACT []
xref: OMIM:208500
xref: OMIM:611263
xref: OMIM:613091
xref: OMIM:613819
xref: OMIM:614376
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050593
name: primary congenital glaucoma
comment: Xref MGI.
xref: OMIM:613085
xref: OMIM:613086
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:0050594
name: glycogen storage disease IX
xref: OMIM:261750
xref: OMIM:306000
xref: OMIM:613027
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:0050595
name: mucormycosis
is_obsolete: true

[Term]
id: DOID:0050596
name: taeniasis
alt_id: DOID:10076
def: "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat." [url:http\://en.wikipedia.org/wiki/Taeniasis]
synonym: "Beef tapeworm infection" RELATED []
synonym: "Infection by Taeniarhynchus saginatus" RELATED [MTHICD9_2006:123.2]
synonym: "Taenia saginata infectious disease" RELATED []
xref: ICD9CM:123.2
xref: SNOMEDCT_2010_1_31:69163003
xref: UMLS_CUI:C0152073
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:0050597
name: intestinal schistosomiasis
alt_id: DOID:13692
alt_id: DOID:13721
alt_id: DOID:3468
def: "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia." [url:http\://en.wikipedia.org/wiki/Schistosomiasis]
comment: Xref MGI.
synonym: "Katayama fever" EXACT [SNOMEDCT_2005_07_31:268981007]
synonym: "Schistosoma japonicum infection" EXACT [NCI2004_11_17:C35001]
synonym: "Schistosoma mansoni infectious disease" EXACT []
synonym: "schistosomiasis japonica" EXACT []
xref: ICD9CM:120.2
xref: MSH:D012554
xref: NCI:C35001
xref: OMIM:181460
xref: ORDO:1247
xref: SNOMEDCT_2010_1_31:187114003
xref: SNOMEDCT_2010_1_31:240788003
xref: SNOMEDCT_2010_1_31:268058007
xref: SNOMEDCT_2010_1_31:268981007
xref: SNOMEDCT_2010_1_31:52179003
xref: SNOMEDCT_2010_1_31:6421008
xref: SNOMEDCT_2010_1_31:750009
xref: UMLS_CUI:C0036329
xref: UMLS_CUI:C0036330
xref: UMLS_CUI:C0276932
is_a: DOID:1395 ! schistosomiasis

[Term]
id: DOID:0050598
name: extrapulmonary tuberculosis
def: "A tuberculosis that occurs at body sites other than the lung." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
is_a: DOID:399 ! tuberculosis

[Term]
id: DOID:0050599
name: abdominal tuberculosis
def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
is_a: DOID:0050598 ! extrapulmonary tuberculosis

[Term]
id: DOID:0050600
name: ABCD syndrome
def: "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)." [url:http\://en.wikipedia.org/wiki/ABCD_syndrome, url:http\://omim.org/entry/600501]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS" EXACT []
xref: OMIM:600501
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050601
name: ADULT syndrome
def: "An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63." [url:http\://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT []
xref: OMIM:103285
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050602
name: triple-A syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Achalasia-Addisonianism-Alacrimia syndrome" EXACT []
synonym: "Allgrove Syndrome" EXACT []
xref: OMIM:231550
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050603
name: acheiropody
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Acheiropodia" EXACT []
synonym: "Horn-Kolb Syndrome" EXACT []
xref: OMIM:200500
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050604
name: acrocapitofemoral dysplasia
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:607778
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050605
name: acrodermatitis enteropathica
xref: OMIM:201100
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0050606
name: acrokeratosis verruciformis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Acrokeratosis verruciformis of Hopf" EXACT []
synonym: "Hopf disease" EXACT []
xref: OMIM:101900
is_a: DOID:161 ! keratosis

[Term]
id: DOID:0050608
name: Askin's tumor
synonym: "Askin tumor" EXACT []
is_a: DOID:3369 ! peripheral primitive neuroectodermal tumor

[Term]
id: DOID:0050610
name: oral cavity carcinoma in situ
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:0050611
name: pharynx carcinoma in situ
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:0050612
name: gall bladder carcinoma in situ
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:0050613
name: bile duct carcinoma in situ
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:0050614
name: bronchus carcinoma in situ
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:0050615
name: respiratory system cancer
def: "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract." [url:http\://en.wikipedia.org/wiki/Respiratory_tract_neoplasm]
is_a: DOID:0050686 ! organ system cancer

[Term]
id: DOID:0050616
name: malignant Leydig cell tumor
alt_id: DOID:4755
synonym: "Leydig cell tumor, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:77870005]
synonym: "malignant interstitial cell tumor" EXACT []
synonym: "malignant Leydig cell neoplasm" EXACT [NCI2004_11_17:C4213]
xref: NCI:C4213
xref: SNOMEDCT_2010_1_31:77870005
xref: UMLS_CUI:C0334410
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:0050617
name: malignant Sertoli cell tumor
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:0050618
name: malignant Sertoli-Leydig cell tumor
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:0050619
name: paranasal sinus cancer
alt_id: DOID:1354
alt_id: DOID:2442
alt_id: DOID:2765
alt_id: DOID:2767
alt_id: DOID:4689
def: "A respiratory system cancer that is located_in the paranasal sinuses." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1]
synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6019]
synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED []
synonym: "Epidermoid carcinoma of the paranasal sinus" EXACT [NCI2004_11_17:C8193]
synonym: "Mucoepidermoid carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6018]
synonym: "paranasal sinus adenocarcinoma" EXACT []
synonym: "paranasal sinus adenoid cystic carcinoma" EXACT []
synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT []
synonym: "paranasal sinus squamous cell carcinoma" EXACT []
synonym: "squamous cell carcinoma of paranasal sinus" RELATED []
xref: NCI:C8193
xref: UMLS_CUI:C0280334
xref: UMLS_CUI:C0854995
xref: UMLS_CUI:C1335336
xref: UMLS_CUI:C1335337
xref: UMLS_CUI:C1335340
is_a: DOID:0050615 ! respiratory system cancer

[Term]
id: DOID:0050620
name: infiltrating renal pelvis transitional cell carcinoma
is_a: DOID:5974 ! renal pelvis transitional cell carcinoma

[Term]
id: DOID:0050621
name: respiratory system benign neoplasm
def: "An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm." [url:http\://en.wikipedia.org/wiki/Respiratory_system]
is_a: DOID:0060085 ! organ system benign neoplasm

[Term]
id: DOID:0050622
name: reproductive organ benign neoplasm
def: "An organ system benign neoplasm that is located_in reproductive system organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system]
is_a: DOID:0060085 ! organ system benign neoplasm

[Term]
id: DOID:0050623
name: bladder benign neoplasm
is_a: DOID:731 ! urinary system benign neoplasm

[Term]
id: DOID:0050624
name: gastrointestinal system benign neoplasm
def: "An organ system benign neoplasm located_in gastrointestinal tract organs." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract]
is_a: DOID:0060085 ! organ system benign neoplasm

[Term]
id: DOID:0050625
name: biliary tract neoplasm
alt_id: DOID:4609
def: "A hepatobiliary benign neoplasm located_in the biliary tract." [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract]
synonym: "extrahepatic bile duct neoplasm" EXACT []
synonym: "neoplasm of extrahepatic bile ducts (disorder)" EXACT [SNOMEDCT_2005_07_31:126855001]
synonym: "tumor of the extrahepatic bile duct" EXACT [NCI2004_11_17:C4441]
xref: NCI:C4441
xref: SNOMEDCT_2010_1_31:126855001
xref: UMLS_CUI:C0345913
is_a: DOID:3117 ! hepatobiliary benign neoplasm

[Term]
id: DOID:0050626
name: gastrointestinal neuroendocrine tumor
def: "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells." [url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904]
subset: DO_cancer_slim
synonym: "malignant gastrointestinal neuroendocrine tumor" EXACT []
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:0050628
name: advanced sleep phase syndrome
def: "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning." [url:http\://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome]
comment: Xref MGI.
synonym: "familial advanced sleep-phase syndrome" EXACT []
xref: OMIM:604348
xref: OMIM:615224
xref: ORDO:164736
is_a: DOID:535 ! sleep disorder

[Term]
id: DOID:0050629
name: Aicardi-Goutieres syndrome
def: "An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections." [url:http\://omim.org/entry/225750, url:http\://www.ncbi.nlm.nih.gov/books/NBK1475/]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Cree encephalitis" EXACT []
xref: ICD10CM:G31.8
xref: OMIM:225750
xref: OMIM:610181
xref: OMIM:610329
xref: OMIM:610333
xref: OMIM:612952
xref: OMIM:615010
xref: OMIM:615846
xref: ORDO:51
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050630
name: Aland Island eye disease
synonym: "Forsius-Eriksson syndrome" EXACT []
synonym: "FORSIUS-ERIKSSON TYPE OCULAR ALBINISM" EXACT []
xref: OMIM:300600
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:0050631
name: Allan-Herndon-Dudley syndrome
def: "An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement." [url:http\://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome, url:http\://omim.org/entry/300523]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ALLAN-HERNDON SYNDROME" EXACT []
xref: OMIM:300523
is_a: DOID:0050735 ! X-linked disease

[Term]
id: DOID:0050632
name: oculocutaneous albinism
def: "An autosomal recessive disease characterized_by abnormal pigmentation of the skin, hair and eyes." [url:en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: ICD10CM:E70.3
xref: OMIM:203100
xref: OMIM:203200
xref: OMIM:203290
xref: OMIM:606574
xref: OMIM:606952
xref: OMIM:614473
xref: OMIM:615312
xref: ORDO:55
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050633
name: ocular albinism
xref: OMIM:300500
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:0050634
name: alopecia universalis
synonym: "ALOPECIA UNIVERSALIS CONGENITA" EXACT []
xref: OMIM:203655
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0050635
name: alternating hemiplegia of childhood
def: "A hemiplegia characterized_by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body." [url:http\://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood, url:http\://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "AHC" EXACT []
xref: ICD10CM:G98
xref: OMIM:104290
xref: OMIM:614820
xref: ORDO:2131
is_a: DOID:10969 ! hemiplegia

[Term]
id: DOID:0050636
name: familial visceral amyloidosis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "AMYLOIDOSIS, FAMILIAL RENAL" EXACT []
synonym: "German type amyloidosis" EXACT []
synonym: "OSTERTAG TYPE AMYLOIDOSIS" EXACT []
synonym: "systemic nonneuropathic amyloidosis" EXACT []
xref: OMIM:105200
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:0050637
name: Finnish type amyloidosis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "AMYLOIDOSIS, MERETOJA TYPE" EXACT []
xref: OMIM:105120
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:0050638
name: transthyretin amyloidosis
def: "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene." [url:http\://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, url:http\://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=19372706, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Amyloidosis, hereditary, transthyretin-related" EXACT []
synonym: "Corino de Andrade's disease" EXACT []
synonym: "familial amyloid polyneuropathy" EXACT []
synonym: "Familial transthyretin amyloidosis" EXACT []
synonym: "transthyretin-related hereditary amyloidosis" EXACT []
synonym: "TTR amyloidosis" EXACT []
xref: OMIM:105210
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:0050639
name: primary cutaneous amyloidosis
def: "An amyloidosis characterized_by pruritus, skin scratching and by deposits of amyloid in the dermis." [PMID:19663869]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "familial primary localized cutaneous amyloidosis" EXACT []
synonym: "PCA" EXACT []
xref: OMIM:105250
xref: OMIM:613955
xref: ORDO:137807
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:0050640
name: anauxetic dysplasia
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:607095
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:0050641
name: Rh deficiency syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:268150
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:0050642
name: hypochromic microcytic anemia
def: "A microcytic anemia characterized by paler than normal blood cells." [url:http\://en.wikipedia.org/wiki/Hypochromic_anemia]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
xref: OMIM:206100
xref: OMIM:615234
is_a: DOID:11252 ! microcytic anemia

[Term]
id: DOID:0050643
name: anonychia congenita
comment: OMIM mapping confirmed by DO. [SN].
synonym: "HYPONYCHIA CONGENITA" EXACT []
xref: OMIM:206800
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:0050644
name: arterial calcification of infancy
def: "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." [url:http\://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification, url:http\://www.omim.org/entry/208000]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "generalized arterial calcification of infancy" EXACT []
synonym: "idiopathic infantile arterial calcification" EXACT []
synonym: "infantile arteriosclerosis" EXACT []
xref: OMIM:208000
xref: OMIM:614473
xref: ORDO:51608
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:0050645
name: arterial tortuosity syndrome
def: "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta." [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:208050
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:0050646
name: distal arthrogryposis
def: "A muscle tissue disease characterized_by congenital joint contractures of hand and feet." [url:http\://en.wikipedia.org/wiki/Arthrogryposis]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Arthrogryposis Multiplex Congenita" EXACT []
synonym: "Freeman-Sheldon syndrome" EXACT []
synonym: "Freeman-Sheldon syndrome variant" EXACT []
synonym: "Sheldon-Hall syndrome" EXACT []
xref: OMIM:108120
xref: OMIM:108145
xref: OMIM:108200
xref: OMIM:114300
xref: OMIM:121050
xref: OMIM:121070
xref: OMIM:158300
xref: OMIM:178110
xref: OMIM:187370
xref: OMIM:193700
xref: OMIM:601680
xref: OMIM:609128
xref: OMIM:614335
xref: OMIM:615065
xref: ORDO:1147
xref: ORDO:97120
is_a: DOID:66 ! muscle tissue disease

[Term]
id: DOID:0050647
name: Arts syndrome
def: "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene." [url:http\://ghr.nlm.nih.gov/condition/arts-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK2591/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301738, url:http\://www.omim.org/entry/301835, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Lethal ataxia with deafness and optic atrophy" EXACT []
xref: OMIM:301835
is_a: DOID:0050735 ! X-linked disease

[Term]
id: DOID:0050648
name: atelosteogenesis
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:108720
xref: OMIM:108721
xref: OMIM:256050
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050649
name: atransferrinemia
comment: OMIM mapping confirmed by DO. [SN].
synonym: "familial hypotransferrinemia" EXACT []
xref: OMIM:209300
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0050650
name: familial atrial fibrillation
def: "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." [url:http\://en.wikipedia.org/wiki/Familial_atrial_fibrillation]
comment: Xref MGI.
synonym: "ATFB" EXACT []
xref: OMIM:607554
xref: OMIM:608583
xref: OMIM:608988
xref: OMIM:611493
xref: OMIM:611494
xref: OMIM:612201
xref: OMIM:612240
xref: OMIM:613055
xref: OMIM:613980
xref: OMIM:614022
xref: OMIM:614049
xref: OMIM:614050
xref: OMIM:615377
xref: OMIM:615378
xref: OMIM:615770
xref: ORDO:334
is_a: DOID:10273 ! heart conduction disease

[Term]
id: DOID:0050651
name: atrioventricular septal defect
def: "A congenital heart septal defect characterized_by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "atrioventricular canal defect" EXACT []
synonym: "AVCD" EXACT []
synonym: "AVSD" EXACT []
synonym: "ECD" EXACT []
synonym: "endocardial cushion defect" EXACT []
xref: ICD10CM:Q21.2
xref: ICD9CM:745.6
xref: OMIM:600309
xref: OMIM:606215
xref: OMIM:606217
xref: OMIM:614430
xref: OMIM:614474
xref: ORDO:98722
is_a: DOID:1681 ! heart septal defect

[Term]
id: DOID:0050652
name: soft tissue cancer
is_obsolete: true

[Term]
id: DOID:0050653
name: dysplastic nevus
synonym: "nevus of Clark" EXACT []
is_obsolete: true

[Term]
id: DOID:0050654
name: Baller-Gerold syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:218600
is_a: DOID:11971 ! synostosis

[Term]
id: DOID:0050655
name: Bamforth-Lazarus syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE" EXACT []
xref: OMIM:241850
is_a: DOID:1459 ! hypothyroidism

[Term]
id: DOID:0050656
name: pseudo-TORCH syndrome
comment: No OMIM mapping, confirmed by DO. [SN].
synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT []
xref: OMIM:251290
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050657
name: Bannayan-Riley-Ruvalcaba syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "BANNAYAN-ZONANA SYNDROME" EXACT []
synonym: "RILEY-SMITH SYNDROME" EXACT []
synonym: "RUVALCABA-MYHRE-SMITH SYNDROME" EXACT []
xref: OMIM:153480
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050658
name: Bart-Pumphrey syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS" EXACT []
xref: OMIM:149200
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050659
name: biotin-responsive basal ganglia disease
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:607483
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:0050660
name: Beare-Stevenson cutis gyrata syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:123790
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050661
name: vitelliform macular dystrophy
def: "A macular degeneration that can cause progressive vision loss, it is characterized_by the disruption of cells in a small area near the center of the retina, the macula." [url:http\://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Best disease" EXACT []
synonym: "Best macular dystrophy" EXACT []
synonym: "juvenile-onset vitelliform macular dystrophy" EXACT []
xref: ICD10CM:H35.5
xref: OMIM:153700
xref: OMIM:153840
xref: OMIM:608161
xref: ORDO:1243
xref: ORDO:99000
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:0050662
name: bestrophinopathy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "autosomal recessive bestrophinopathy" EXACT []
xref: OMIM:611809
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:0050663
name: Bethlem myopathy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "benign congenital muscular dystrophy" EXACT []
xref: OMIM:158810
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:0050664
name: Bietti crystalline corneoretinal dystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Bietti's crystalline dystrophy " EXACT []
xref: OMIM:210370
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0050665
name: fetal alcohol syndrome
def: "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_syndrome, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf, url:http\://www.cdc.gov/ncbddd/fasd/facts.html]
is_a: DOID:0050696 ! fetal alcohol spectrum disorder

[Term]
id: DOID:0050666
name: partial fetal alcohol syndrome
def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." [url:http\://depts.washington.edu/fasdpn/htmls/fasd-fas.htm, url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf]
is_a: DOID:0050696 ! fetal alcohol spectrum disorder

[Term]
id: DOID:0050667
name: alcohol-related neurodevelopmental disorder
def: "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf]
synonym: "ARND" EXACT []
synonym: "static encephalopathy" EXACT []
is_a: DOID:0050696 ! fetal alcohol spectrum disorder

[Term]
id: DOID:0050668
name: alcohol-related birth defect
def: "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure." [url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf, url:http\://www.cdc.gov/ncbddd/fasd/facts.html]
synonym: "ARBD" EXACT []
is_a: DOID:0050696 ! fetal alcohol spectrum disorder

[Term]
id: DOID:0050669
name: spastic cerebral palsy
def: "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements." [url:http\://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html, url:http\://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html]
is_a: DOID:1969 ! cerebral palsy

[Term]
id: DOID:0050670
name: ataxic cerebral palsy
def: "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic, url:http\://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html]
synonym: "hypotonic cerebral palsy" EXACT []
is_a: DOID:1969 ! cerebral palsy

[Term]
id: DOID:0050671
name: female breast cancer
is_a: DOID:1612 ! breast cancer
created_by: snadendla
creation_date: 2011-06-15T02:48:20Z

[Term]
id: DOID:0050672
name: dyskinetic cerebral palsy
def: "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic]
synonym: "Athetoid Dyskinetic Cerebral Palsy" EXACT []
is_a: DOID:1969 ! cerebral palsy

[Term]
id: DOID:0050673
name: mixed cerebral palsy
def: "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing." [url:http\://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy, url:http\://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html]
is_a: DOID:1969 ! cerebral palsy

[Term]
id: DOID:0050674
name: congenital bile acid synthesis defect
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT []
synonym: "CBA" EXACT []
synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" EXACT []
xref: ICD10CM:K76.8
xref: OMIM:214950
xref: OMIM:235555
xref: OMIM:607765
xref: OMIM:613812
xref: ORDO:79095
xref: ORDO:79301
xref: ORDO:79302
xref: ORDO:79303
is_a: DOID:1701 ! steroid inherited metabolic disorder

[Term]
id: DOID:0050675
name: Birk-Barel syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME" EXACT []
xref: OMIM:612292
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050676
name: Birt-Hogg-Dube syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:135150
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050677
name: Bjornstad syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:262000
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050678
name: Blau syndrome
def: "An autosomal dominant disease characterized_by familial granulomatous arthritis, characterized_by uveitis and characterized_by skin granulomas, caused_by NOD2/CARD15 mutations." [OMIM:186580, url:http\://en.wikipedia.org/wiki/Blau_syndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "ARTHROCUTANEOUVEAL GRANULOMATOSIS" EXACT []
synonym: "Jabs syndrome" EXACT []
xref: NCI:C116794
xref: OMIM:186580
xref: SNOMEDCT:699861000
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0050679
name: blue cone monochromacy
def: "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance." [url:http\://omim.org/entry/303700, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:303700
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:0050680
name: Boomerang dysplasia
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:112310
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050681
name: Borjeson-Forssman-Lehmann syndrome
def: "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene." [url:http\://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, url:http\://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "BORJESON SYNDROME" EXACT []
xref: MSH:C536575
xref: OMIM:301900
is_a: DOID:0050735 ! X-linked disease

[Term]
id: DOID:0050682
name: Athabaskan brainstem dysgenesis syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "NAVAJO BRAINSTEM SYNDROME" EXACT []
xref: OMIM:601536
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050683
name: Bothnia retinal dystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Vasterbotten dystrophy" EXACT []
xref: OMIM:607475
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:0050684
name: Bowen-Conradi syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:211180
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0050685
name: small cell carcinoma
alt_id: DOID:7137
def: "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." [url:http\://en.wikipedia.org/wiki/Small_cell_carcinoma]
synonym: "intermediate cell small cell carcinoma" EXACT []
synonym: "Small cell carcinoma - intermediate cell" EXACT [SNOMEDCT_2005_07_31:189557009]
synonym: "Small cell carcinoma, intermediate cell (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:5958006]
xref: NCI:C4099
xref: SNOMEDCT_2010_1_31:189557009
xref: SNOMEDCT_2010_1_31:5958006
xref: UMLS_CUI:C0334239
is_a: DOID:305 ! carcinoma
created_by: snadendla
creation_date: 2011-06-13T01:25:14Z

[Term]
id: DOID:0050686
name: organ system cancer
def: "A cancer that is classified based on the organ it starts in." [url:http\://cancerguide.org/basic.html]
is_a: DOID:162 ! cancer
created_by: snadendla
creation_date: 2011-06-13T03:28:33Z

[Term]
id: DOID:0050687
name: cell type cancer
def: "A cancer that is classified by the type of cell from which it is derived." [url:http\://cancerguide.org/basic.html, url:http\://en.wikipedia.org/wiki/Cancer]
is_a: DOID:162 ! cancer
created_by: snadendla
creation_date: 2011-06-13T03:28:50Z

[Term]
id: DOID:0050688
name: anal canal cancer
def: "A large intestine cancer that is located_in the terminal part of the large intestine." [url:http\://en.wikipedia.org/wiki/Anal_canal]
is_a: DOID:5672 ! large intestine cancer
created_by: snadendla
creation_date: 2011-06-14T01:34:36Z

[Term]
id: DOID:0050689
name: brachydactyly-syndactyly syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:610713
is_a: DOID:0050739 ! autosomal genetic disease
created_by: snadendla
creation_date: 2011-06-17T03:55:47Z

[Term]
id: DOID:0050690
name: brachyolmia
def: "An osteochondrodysplasia characterized_by generalized platyspondyly without significant long bone abnormalities and short stature." [PMID:10968486]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "brachyrachia" EXACT []
xref: OMIM:113500
xref: OMIM:271530
xref: OMIM:271630
xref: OMIM:613678
xref: ORDO:1293
is_a: DOID:2256 ! osteochondrodysplasia
created_by: snadendla
creation_date: 2011-06-17T04:00:27Z

[Term]
id: DOID:0050691
name: branchiooculofacial syndrome
def: "An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts." [url:http\://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK55063/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:113620
is_a: DOID:0050736 ! autosomal dominant disease
created_by: snadendla
creation_date: 2011-06-17T04:10:18Z

[Term]
id: DOID:0050692
name: Brody myopathy
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:601003
is_a: DOID:440 ! neuromuscular disease
created_by: snadendla
creation_date: 2011-06-17T04:30:49Z

[Term]
id: DOID:0050693
name: Brooke-Spiegler syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:605041
is_a: DOID:0050736 ! autosomal dominant disease
created_by: snadendla
creation_date: 2011-06-17T04:34:10Z

[Term]
id: DOID:0050694
name: Brown-Vialetto-Van Laere syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:211530
is_a: DOID:0050736 ! autosomal dominant disease
created_by: snadendla
creation_date: 2011-06-17T04:38:07Z

[Term]
id: DOID:0050695
name: malignant pleural solitary fibrous tumor
is_a: DOID:5158 ! pleural cancer
created_by: snadendla
creation_date: 2011-06-27T09:57:44Z

[Term]
id: DOID:0050696
name: fetal alcohol spectrum disorder
def: "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://www.cdc.gov/ncbddd/fasd/facts.html]
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:0080015 ! physical disorder
created_by: lschriml
creation_date: 2011-12-01T01:01:25Z

[Term]
id: DOID:0050697
name: chorioamnionitis
def: "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection." [url:http\://en.wikipedia.org/wiki/Chorioamnionitis, url:http\://www.merriam-webster.com/medlineplus/Chorioamnionitis]
is_a: DOID:780 ! placenta disease
created_by: lschriml
creation_date: 2012-01-03T01:13:08Z

[Term]
id: DOID:0050698
name: funisitis
def: "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord." [url:http\://en.wikipedia.org/wiki/Funisitis]
is_a: DOID:65 ! connective tissue disease
created_by: lschriml
creation_date: 2012-01-03T01:18:35Z

[Term]
id: DOID:0050699
name: <new term>
is_obsolete: true
created_by: lschriml
creation_date: 2012-01-03T01:30:35Z

[Term]
id: DOID:0050700
name: cardiomyopathy
def: "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/]
comment: MSH:D009202 added from NeuroDevNet [WAK].
synonym: "Cardiomyopathies" EXACT [MSH:D009202]
xref: ICD10CM:I42
xref: MSH:D009202
is_a: DOID:114 ! heart disease
is_a: DOID:423 ! myopathy
created_by: lschriml
creation_date: 2012-01-03T02:54:11Z

[Term]
id: DOID:0050701
name: electroclinical syndrome
def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." [url:http\://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]
synonym: "electro-clinical syndrome" EXACT []
is_a: DOID:1826 ! epilepsy syndrome
created_by: lschriml
creation_date: 2012-04-11T11:42:46Z

[Term]
id: DOID:0050702
name: neonatal period electroclinical syndrome
def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795, url:http\://www.ncbi.nlm.nih.gov/pubmed/22182677]
is_a: DOID:0050701 ! electroclinical syndrome
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z

[Term]
id: DOID:0050703
name: infancy electroclinical syndrome
def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]
is_a: DOID:0050701 ! electroclinical syndrome
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z

[Term]
id: DOID:0050704
name: childhood electroclinical syndrome
def: "An electroclinical syndrome with onset in childhood between one and 12 years of age." [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]
is_a: DOID:0050701 ! electroclinical syndrome
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z

[Term]
id: DOID:0050705
name: adolescence-adult electroclinical syndrome
def: "An electroclinical syndrome with onset in adolescence and adulthood." [JA:Epilepsy_Genetics_Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]
is_a: DOID:0050701 ! electroclinical syndrome
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z

[Term]
id: DOID:0050706
name: variable age at onset electroclinical syndrome
is_a: DOID:0050701 ! electroclinical syndrome
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z

[Term]
id: DOID:0050707
name: nonsyndromic epilepsy
is_obsolete: true
created_by: lschriml
creation_date: 2012-04-11T01:42:13Z

[Term]
id: DOID:0050708
name: early onset absence epilepsy
def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org]
is_a: DOID:0050704 ! childhood electroclinical syndrome
created_by: lschriml
creation_date: 2012-04-11T02:29:04Z

[Term]
id: DOID:0050709
name: Ohtahara syndrome
def: "A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures." [url:http\://en.wikipedia.org/wiki/Ohtahara_syndrome, url:http\://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm]
synonym: "Early Infantile Epileptic Encephalopathy " EXACT []
synonym: "Early Infantile Epileptic Encephalopathy with Burst-Suppression" EXACT []
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15" EXACT []
xref: OMIM:300088
xref: OMIM:300607
xref: OMIM:300672
xref: OMIM:308350
xref: OMIM:609304
xref: OMIM:612164
xref: OMIM:613402
xref: OMIM:613477
xref: OMIM:613720
xref: OMIM:613721
xref: OMIM:613722
xref: OMIM:614558
xref: OMIM:614959
xref: OMIM:615006
xref: OMIM:615338
xref: OMIM:615473
xref: OMIM:615476
is_a: DOID:0050702 ! neonatal period electroclinical syndrome
created_by: lschriml
creation_date: 2012-05-10T10:02:58Z

[Term]
id: DOID:0050710
name: 3-Methylcrotonyl-CoA carboxylase deficiency
def: "An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy." [url:http\://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, url:http\://omim.org/entry/210200]
synonym: "3-Methylcrotonylglycinuria" EXACT []
synonym: "3MCC deficiency" EXACT []
synonym: "BMCC deficiency" EXACT []
xref: OMIM:210200
xref: OMIM:210210
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2012-05-22T10:32:44Z

[Term]
id: DOID:0050711
name: aceruloplasminemia
def: "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus." [url:http\://en.wikipedia.org/wiki/Aceruloplasminemia, url:http\://omim.org/entry/604290?search=604290&highlight=604290]
xref: OMIM:604290
is_a: DOID:2351 ! iron metabolism disease
created_by: lschriml
creation_date: 2012-05-22T11:47:25Z

[Term]
id: DOID:0050712
name: AGAT deficiency
def: "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis." [url:http\://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency, url:http\://omim.org/entry/612718?search=AGAT%20deficiency&highlight=deficiency%20agat]
synonym: "arginine:glycine amidinotransferase deficiency" EXACT []
synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 3" EXACT []
xref: OMIM:612718
is_a: DOID:0050798 ! cerebral creatine deficiency syndrome
created_by: lschriml
creation_date: 2012-05-22T11:53:57Z

[Term]
id: DOID:0050713
name: fatal infantile encephalocardiomyopathy
def: "A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase." [url:http\://omim.org/entry/604377]
comment: Xref MGI.
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT []
synonym: "fatal infantile COX deficiency" EXACT []
xref: OMIM:604377
xref: OMIM:615119
xref: ORDO:1561
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: lschriml
creation_date: 2012-05-22T01:03:41Z

[Term]
id: DOID:0050715
name: methylmalonic aciduria and homocystinuria type cblC
def: "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase." [url:http\://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22]
synonym: "Cobalamin C deficiency" EXACT []
xref: OMIM:277400
is_a: DOID:14749 ! methylmalonic acidemia
created_by: lschriml
creation_date: 2012-05-23T03:26:25Z

[Term]
id: DOID:0050716
name: methylmalonic aciduria and homocystinuria type cblD
def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities." [url:http\://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/18385497]
synonym: "Cobalamin D deficiency" EXACT []
xref: OMIM:277410
is_a: DOID:14749 ! methylmalonic acidemia
created_by: lschriml
creation_date: 2012-05-23T03:26:25Z

[Term]
id: DOID:0050717
name: methylmalonic aciduria and homocystinuria type cblF
def: "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl)." [url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=2&ved=0CFMQFjAB&url=http%3A%2F%2Fpreventiongenetics.com%2FClinicalTesting%2FTestDescriptions%2FLMBRD1.pdf&ei=hzv3T__xH4qk6wGIlqn2Bg&usg=AFQjCNEq6PEmU_PvWZSYQVIf2Uhf7Qxp7w&sig2=Ed-CTWsLgGVSkht-OW43gA]
synonym: "Cobalamin F deficiency" EXACT []
xref: OMIM:277380
is_a: DOID:14749 ! methylmalonic acidemia
created_by: lschriml
creation_date: 2012-05-23T03:26:25Z

[Term]
id: DOID:0050718
name: vitamin metabolic disorder
def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism]
is_a: DOID:655 ! inherited metabolic disorder
created_by: lschriml
creation_date: 2012-06-11T02:44:53Z

[Term]
id: DOID:0050719
name: cerebral folate receptor alpha deficiency
def: "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy." [url:http\://en.wikipedia.org/wiki/B_vitamins, url:http\://www.ncbi.nlm.nih.gov/pubmed/19732866]
is_a: DOID:0050718 ! vitamin metabolic disorder
created_by: lschriml
creation_date: 2012-06-11T02:58:59Z

[Term]
id: DOID:0050720
name: ornithine translocase deficiency
def: "An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood." [url:http\://en.wikipedia.org/wiki/Ornithine_translocase_deficiency, url:http\://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx]
synonym: "HHH syndrome" EXACT []
synonym: "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome" EXACT []
xref: OMIM:238970
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z

[Term]
id: DOID:0050721
name: serine deficiency
def: "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15021249]
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z

[Term]
id: DOID:0050722
name: PHGDH deficiency
def: "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis." [url:http\://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, url:http\://www.ncbi.nlm.nih.gov/pubmed?term=18296366, url:http\://www.omim.org/entry/601815]
synonym: "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY" EXACT []
xref: OMIM:601815
is_a: DOID:0050721 ! serine deficiency
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z

[Term]
id: DOID:0050723
name: PSAT deficiency
def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, url:http\://www.omim.org/entry/610992?search=610992&highlight=610992, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417]
synonym: "Phosphoserine aminotransferase deficiency" EXACT []
xref: OMIM:610992
is_a: DOID:0050721 ! serine deficiency
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z

[Term]
id: DOID:0050724
name: PSPH deficiency
def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine." [url:http\://en.wikipedia.org/wiki/PSPH, url:http\://www.omim.org/entry/614023, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350]
synonym: "Phosphoserine phosphatase deficiency" EXACT []
synonym: "PSPHD" EXACT []
xref: OMIM:614023
is_a: DOID:0050721 ! serine deficiency
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z

[Term]
id: DOID:0050725
name: tyrosinemia type II
def: "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels." [url:http\://en.wikipedia.org/wiki/Tyrosinemia_type_II, url:http\://www.omim.org/entry/276600?search=276600&highlight=276600]
synonym: "Oculocutaneous tyrosinemia" EXACT []
synonym: "Richner-Hanhart syndrome" EXACT []
xref: OMIM:276600
is_a: DOID:9275 ! tyrosinemia
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z

[Term]
id: DOID:0050726
name: tyrosinemia type I
def: "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body." [url:http\://en.wikipedia.org/wiki/Type_I_tyrosinemia]
synonym: "hepatorenal tyrosinemia" EXACT []
xref: OMIM:276700
is_a: DOID:9275 ! tyrosinemia
created_by: lschriml
creation_date: 2012-07-06T02:55:45Z

[Term]
id: DOID:0050727
name: tyrosinemia type III
def: "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine." [url:http\://en.wikipedia.org/wiki/Type_III_tyrosinemia, url:http\://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia]
xref: OMIM:276710
is_a: DOID:9275 ! tyrosinemia
created_by: lschriml
creation_date: 2012-07-06T02:55:45Z

[Term]
id: DOID:0050728
name: glycogen metabolism disorder
def: "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen." [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism]
is_a: DOID:2978 ! carbohydrate metabolic disorder
created_by: lschriml
creation_date: 2012-07-13T10:42:54Z

[Term]
id: DOID:0050729
name: neutral lipid storage disease
def: "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues." [url:http\://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome]
synonym: "Chanarin-Dorfman syndrome" EXACT []
xref: OMIM:275630
is_a: DOID:9455 ! lipid storage disease
created_by: lschriml
creation_date: 2012-07-17T12:31:48Z

[Term]
id: DOID:0050730
name: coenzyme Q10 deficiency disease
def: "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis." [url:http\://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity]
synonym: "COENZYME Q10 DEFICIENCY, PRIMARY" EXACT []
xref: OMIM:607426
xref: OMIM:612016
xref: OMIM:614650
xref: OMIM:614651
xref: OMIM:614652
xref: OMIM:614654
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: lschriml
creation_date: 2012-07-17T12:58:37Z

[Term]
id: DOID:0050731
name: vitamin B12 deficiency
def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12." [url:http\://en.wikipedia.org/wiki/B12_deficiency]
synonym: "cobalamin deficiency" EXACT []
synonym: "hypocobalaminemia" EXACT []
is_a: DOID:0050718 ! vitamin metabolic disorder
created_by: lschriml
creation_date: 2012-07-17T01:01:29Z

[Term]
id: DOID:0050732
name: methylmalonic aciduria and homocystinuria type cblE
is_a: DOID:14749 ! methylmalonic acidemia
created_by: lschriml
creation_date: 2012-07-17T01:42:35Z

[Term]
id: DOID:0050733
name: methylmalonic aciduria and homocystinuria type cblG
is_a: DOID:14749 ! methylmalonic acidemia
created_by: lschriml
creation_date: 2012-07-17T01:42:35Z

[Term]
id: DOID:0050734
name: congenital intrinsic factor deficiency
def: "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption." [url:http\://omim.org/entry/261000?search=261000&highlight=261000, url:http\://www.ncbi.nlm.nih.gov/pubmed/14695536, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332]
synonym: "hereditary intrinsic factor deficiency" EXACT []
xref: OMIM:261000
is_a: DOID:0050731 ! vitamin B12 deficiency
created_by: lschriml
creation_date: 2012-07-17T01:52:57Z

[Term]
id: DOID:0050735
name: X-linked disease
def: "A monogenic disease that has_material_basis_in muations in genes on the X chromosome." [url:http\://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns]
is_a: DOID:0050177 ! monogenic disease
created_by: lschriml
creation_date: 2012-07-24T12:47:31Z

[Term]
id: DOID:0050736
name: autosomal dominant disease
def: "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease." [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002049.htm]
is_a: DOID:0050739 ! autosomal genetic disease
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z

[Term]
id: DOID:0050737
name: autosomal recessive disease
def: "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop." [url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002052.htm]
is_a: DOID:0050739 ! autosomal genetic disease
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z

[Term]
id: DOID:0050738
name: Y-linked disease
def: "A monogenic disease that has_material_basis_in muations on the Y chromosome." [url:http\://en.wikipedia.org/wiki/Genetic_disorder#Y-linked]
is_a: DOID:0050177 ! monogenic disease
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z

[Term]
id: DOID:0050739
name: autosomal genetic disease
def: "A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes." [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns]
is_a: DOID:0050177 ! monogenic disease
created_by: lschriml
creation_date: 2012-07-24T04:45:53Z

[Term]
id: DOID:0050740
name: Qazi Markouizos syndrome
def: "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation." [url:http\://omim.org/entry/600096, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010]
synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT []
synonym: "Qazi-Markouizos syndrome" EXACT []
xref: OMIM:600096
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2012-08-10T01:08:47Z

[Term]
id: DOID:0050741
name: alcohol dependence
xref: EFO:0003829
xref: KEGG:05034
xref: OMIM:103780
is_a: DOID:9973 ! substance dependence
created_by: lschriml
creation_date: 2012-09-05T11:48:42Z

[Term]
id: DOID:0050742
name: nicotine dependence
xref: EFO:0003768
xref: OMIM:188890
is_a: DOID:9973 ! substance dependence
created_by: lschriml
creation_date: 2012-09-05T11:48:42Z

[Term]
id: DOID:0050743
name: mature T-cell and NK-cell lymphoma
def: "A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells." [url:http\://www.cancer.gov/dictionary?CdrID=393800, url:http\://www.cancer.gov/dictionary?CdrID=44062, url:http\://www.ncbi.nlm.nih.gov/pubmed/21919697]
subset: DO_cancer_slim
synonym: "mature T-cell and natural killer cell lymphoma" EXACT []
synonym: "NK-T cell lymphoma" EXACT []
is_a: DOID:0060060 ! non-Hodgkin lymphoma
created_by: lschriml
creation_date: 2012-09-18T01:56:52Z

[Term]
id: DOID:0050744
name: anaplastic large cell lymphoma
def: "A non-Hodgkin lymphoma involving aberrant T-cells." [url:http\://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology]
is_a: DOID:0060060 ! non-Hodgkin lymphoma
created_by: lschriml
creation_date: 2012-09-18T01:57:40Z

[Term]
id: DOID:0050745
name: diffuse large B-cell lymphoma
def: "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body." [url:http\://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma]
subset: DO_cancer_slim
is_a: DOID:707 ! B-cell lymphoma
created_by: lschriml
creation_date: 2012-09-18T01:58:25Z

[Term]
id: DOID:0050746
name: mantle cell lymphoma
def: "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles." [url:http\://en.wikipedia.org/wiki/Mantle_cell_lymphoma]
is_a: DOID:707 ! B-cell lymphoma
created_by: lschriml
creation_date: 2012-09-18T02:00:45Z

[Term]
id: DOID:0050747
name: lymphoplasmacytic lymphoma
def: "A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells." [url:http\://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma]
comment: Xref MGI.
synonym: "Waldenström's macroglobulinemia " EXACT []
xref: ICD10CM:C88.0
xref: ICD9CM:273.3
xref: MSH:D008258
xref: OMIM:153600
xref: OMIM:610430
xref: ORDO:33226
is_a: DOID:707 ! B-cell lymphoma
created_by: lschriml
creation_date: 2012-09-18T02:00:45Z

[Term]
id: DOID:0050748
name: marginal zone B-cell lymphoma
def: "A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue." [url:http\://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=562554]
subset: DO_cancer_slim
synonym: "marginal zone lymphoma" EXACT []
is_a: DOID:707 ! B-cell lymphoma
created_by: lschriml
creation_date: 2012-09-18T02:00:45Z

[Term]
id: DOID:0050749
name: peripheral T-cell lymphoma
def: "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus." [url:http\://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma]
subset: DO_cancer_slim
is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma
created_by: lschriml
creation_date: 2012-09-18T02:01:49Z

[Term]
id: DOID:0050750
name: splenic marginal zone lymphoma
def: "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp." [url:http\://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma]
is_a: DOID:0050748 ! marginal zone B-cell lymphoma
created_by: lschriml
creation_date: 2012-09-18T02:03:06Z

[Term]
id: DOID:0050751
name: T-cell large granular lymphocyte leukemia
def: "A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood." [url:http\://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia]
synonym: "Large granular lymphocytic leukemia" EXACT []
is_a: DOID:1040 ! chronic lymphocytic leukemia
created_by: lschriml
creation_date: 2012-09-18T02:05:41Z

[Term]
id: DOID:0050752
name: amyotrophic lateral sclerosis type 8
def: "A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20." [url:http\://omim.org/entry/608627, utl:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis]
synonym: "ALS8" EXACT [OMIM:608627]
synonym: "amyotrophic lateral sclerosis 8" EXACT [OMIM:608627]
xref: OMIM:608627
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0050753
name: cerebellar ataxia
is_a: DOID:2786 ! cerebellar disease
created_by: lschriml
creation_date: 2013-01-16T01:07:02Z

[Term]
id: DOID:0050754
name: ataxia with oculomotor apraxia type 1
is_a: DOID:0050753 ! cerebellar ataxia
created_by: lschriml
creation_date: 2013-01-16T01:07:02Z

[Term]
id: DOID:0050755
name: ataxia with oculomotor apraxia type 2
is_a: DOID:0050753 ! cerebellar ataxia
created_by: lschriml
creation_date: 2013-01-16T01:07:02Z

[Term]
id: DOID:0050756
name: Batten disease
synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT []
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis
created_by: lschriml
creation_date: 2013-01-16T01:15:03Z

[Term]
id: DOID:0050757
name: deafness dystonia syndrome
def: "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems." [url:http\://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, url:http\://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, url:http\://omim.org/entry/304700, url:http\://www.ncbi.nlm.nih.gov/books/NBK1216/]
synonym: "Deafness Dystonia Optic Atrophy Syndrome" EXACT []
synonym: "Deafness Dystonia Optic Neuronopathy Syndrome (DDON)" EXACT []
synonym: "Dystonia Deafness Syndrome" EXACT []
synonym: "Mohr-Tranebjaerg Syndrome" EXACT []
xref: OMIM:304700
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: lschriml
creation_date: 2013-01-16T01:20:50Z

[Term]
id: DOID:0050758
name: metabolic acidosis
def: "A lactic acidosis that has_material_basis_in high levels of acid." [url:http\://en.wikipedia.org/wiki/Metabolic_acidosis]
is_a: DOID:3650 ! lactic acidosis
created_by: lschriml
creation_date: 2013-01-16T01:23:37Z

[Term]
id: DOID:0050759
name: myotonic dystrophy type 2
def: "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one." [url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/602668, url:http\://www.ncbi.nlm.nih.gov/books/NBK1466/, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple]
synonym: "proximal myotonic myopathy" EXACT []
xref: MSH:D020967
xref: OMIM:602668
is_a: DOID:450 ! myotonic disease
created_by: lschriml
creation_date: 2013-01-16T01:27:31Z

[Term]
id: DOID:0050760
name: X-linked myopathy with excessive autophagy
synonym: "XMEA" EXACT []
is_a: DOID:423 ! myopathy
created_by: lschriml
creation_date: 2013-01-16T01:29:01Z

[Term]
id: DOID:0050761
name: paramyloidosis
is_a: DOID:9120 ! amyloidosis
created_by: lschriml
creation_date: 2013-01-16T01:30:21Z

[Term]
id: DOID:0050762
name: adenylosuccinase lyase deficiency
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2013-01-17T12:42:58Z

[Term]
id: DOID:0050763
name: ARC syndrome
def: "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene." [url:http\://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, url:http\://omim.org/entry/208085, url:http\://omim.org/entry/613404, url:http\://www.ncbi.nlm.nih.gov/pubmed/16896922, url:http\://www.ncbi.nlm.nih.gov/pubmed/22753090, url:http\://www.ncbi.nlm.nih.gov/pubmed/24415890, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697]
synonym: "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT []
synonym: "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS" EXACT []
synonym: "Arthrogryposis-renal dysfunction-cholestasis" EXACT []
xref: OMIM:208085
xref: OMIM:613404
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2013-01-17T12:46:38Z

[Term]
id: DOID:0050764
name: Armfield syndrome
synonym: "Armfield X-linked mental retardation syndrome" EXACT [OMIM:300261]
synonym: "MRXSA" EXACT [OMIM:300261]
xref: OMIM:300261
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2013-01-17T12:48:15Z

[Term]
id: DOID:0050765
name: neuroacanthocytosis
is_a: DOID:1289 ! neurodegenerative disease
created_by: lschriml
creation_date: 2013-01-17T12:54:19Z

[Term]
id: DOID:0050766
name: chorea-acanthocytosis
is_a: DOID:0050765 ! neuroacanthocytosis
created_by: lschriml
creation_date: 2013-01-17T12:54:19Z

[Term]
id: DOID:0050767
name: midface dysplasia
is_a: DOID:2256 ! osteochondrodysplasia
created_by: lschriml
creation_date: 2013-02-21T11:19:14Z

[Term]
id: DOID:0050768
name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
xref: OMIM:604273
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: lschriml
creation_date: 2013-02-21T11:26:46Z

[Term]
id: DOID:0050769
name: N syndrome
synonym: "NSX" EXACT [OMIM:310465]
xref: OMIM:310465
xref: Orphanet:ORPHA2608
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2013-02-21T11:32:26Z

[Term]
id: DOID:0050770
name: polycystic liver disease
xref: OMIM:174050
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-02-21T11:36:13Z

[Term]
id: DOID:0050771
name: phaeochromocytoma
xref: OMIM:171300
is_a: DOID:0060084 ! cell type benign neoplasm
created_by: lschriml
creation_date: 2013-02-21T11:40:58Z

[Term]
id: DOID:0050772
name: <new term>
is_obsolete: true
created_by: lschriml
creation_date: 2013-02-21T11:45:37Z

[Term]
id: DOID:0050773
name: paraganglioma
comment: Xref MGI.
synonym: "chemodectoma" EXACT []
xref: MSH:D010235
xref: OMIM:116310
xref: OMIM:168000
xref: OMIM:601650
xref: OMIM:605373
xref: OMIM:614165
is_a: DOID:169 ! neuroendocrine tumor
created_by: lschriml
creation_date: 2013-02-21T11:51:57Z

[Term]
id: DOID:0050774
name: rapadilino syndrome
xref: OMIM:266280
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-02-21T11:56:15Z

[Term]
id: DOID:0050775
name: schneckenbecken dysplasia
xref: OMIM:269250
is_a: DOID:2256 ! osteochondrodysplasia
created_by: lschriml
creation_date: 2013-02-21T12:00:39Z

[Term]
id: DOID:0050776
name: non-specific X-linked mental retardation
synonym: "MENTAL RETARDATION, X-LINKED 95" EXACT []
synonym: "MRX" EXACT []
synonym: "nonsyndromic X-linked mental retardation" EXACT []
xref: OMIM:300143
xref: OMIM:300210
xref: OMIM:300387
xref: OMIM:300436
xref: OMIM:300558
xref: OMIM:300716
xref: OMIM:300844
xref: OMIM:300849
is_a: DOID:0050889 ! non-syndromic intellectual disability
created_by: lschriml
creation_date: 2013-02-21T12:06:40Z

[Term]
id: DOID:0050777
name: Joubert syndrome
def: "An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy)." [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple]
comment: Xref MGI.
synonym: "JBTS" EXACT []
xref: OMIM:213300
xref: OMIM:300804
xref: OMIM:608091
xref: OMIM:608629
xref: OMIM:609583
xref: OMIM:610188
xref: OMIM:610688
xref: OMIM:611560
xref: OMIM:612285
xref: OMIM:612291
xref: OMIM:614173
xref: OMIM:614424
xref: OMIM:614464
xref: OMIM:614465
xref: OMIM:614615
xref: OMIM:614815
xref: OMIM:614970
xref: OMIM:615636
xref: OMIM:615665
xref: ORDO:475
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-04-04T11:25:32Z

[Term]
id: DOID:0050778
name: Meckel syndrome
def: "An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis." [url:http\://en.wikipedia.org/wiki/Meckel_syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract]
comment: Xref MGI.
synonym: "Meckel-Gruber syndrome" EXACT []
xref: ICD10CM:Q61.9
xref: ICD9CM:753.10
xref: OMIM:249000
xref: OMIM:267010
xref: OMIM:603194
xref: OMIM:607361
xref: OMIM:611134
xref: OMIM:611561
xref: OMIM:612284
xref: OMIM:613885
xref: OMIM:614175
xref: OMIM:614209
xref: OMIM:615397
xref: ORDO:564
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-04-04T11:28:16Z

[Term]
id: DOID:0050779
name: hydrolethalus syndrome
def: "An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:http\://www.ncbi.nlm.nih.gov/pubmed/15843405]
comment: Xref MGI.
synonym: "Salonen-Herva-Norio syndrome" EXACT []
xref: ICD10CM:Q87.8
xref: OMIM:236680
xref: OMIM:614120
xref: ORDO:2189
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-06-24T12:50:06Z

[Term]
id: DOID:0050780
name: Opitz-GBBB syndrome
def: "A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form." [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:http\://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb]
synonym: "Opitz G/BBB Syndrome" EXACT []
xref: KEGG:H00583
xref: OMIM:145410
xref: OMIM:300000
is_a: DOID:0050177 ! monogenic disease
created_by: lschriml
creation_date: 2013-06-24T01:18:03Z

[Term]
id: DOID:0050781
name: Ogden syndrome
def: "An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys." [url:http\://en.wikipedia.org/wiki/N-acetyltransferase, url:http\://en.wikipedia.org/wiki/NatA_Acetyltransferase, url:http\://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1, url:http\://repository.cshl.edu/id/eprint/27483, url:http\://www.nature.com/news/2011/110623/full/news.2011.382.html, url:http\://www.ncbi.nlm.nih.gov/gene/8260, url:http\://www.ncbi.nlm.nih.gov/pubmed/21700266, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432, url:www.omim.org/entry/300855?search=300855]
synonym: "N-alpha-acetyltransferase" EXACT []
synonym: "N-terminal acetyltransferase deficiency" EXACT []
synonym: "OGDNS" EXACT []
synonym: "X-linked Malformation and Infantile Lethality Syndrome" EXACT []
xref: OMIM:300013
xref: OMIM:300855
is_a: DOID:0050735 ! X-linked disease
created_by: lschriml
creation_date: 2013-07-17T10:18:00Z

[Term]
id: DOID:0050782
name: Zollinger-Ellison Syndrome
def: "A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/, url:http\://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract]
xref: MSH:D015043
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2013-10-23T12:51:49Z

[Term]
id: DOID:0050783
name: secondary progressive multiple sclerosis
def: "A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms]
synonym: "Secondary-progressive MS " EXACT []
synonym: "SPMS" EXACT []
xref: SNOMEDCT_2013_01_31:425500002
xref: UMLS_CUI:C0751965
is_a: DOID:2377 ! multiple sclerosis
created_by: lschriml
creation_date: 2013-11-07T11:22:49Z

[Term]
id: DOID:0050784
name: primary progressive multiple sclerosis
def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx]
synonym: "PPMS" EXACT []
synonym: "Primary-progressive MS" EXACT []
xref: SNOMEDCT_2013_01_31:428700003
xref: UMLS_CUI:C0751964
is_a: DOID:2377 ! multiple sclerosis
created_by: lschriml
creation_date: 2013-11-07T11:26:58Z

[Term]
id: DOID:0050785
name: progressive relapsing multiple sclerosis
def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx]
synonym: "PRMS" EXACT []
synonym: "Progressive-relapsing MS" EXACT []
xref: UMLS_CUI:C0393666
is_a: DOID:2377 ! multiple sclerosis
created_by: lschriml
creation_date: 2013-11-07T11:32:37Z

[Term]
id: DOID:0050786
name: iridogoniodysgenesis syndrome
def: "An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene." [url:http\://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, url:http\://rarediseases.info.nih.gov/gard/3026/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/19175065]
comment: Xref MGI.
synonym: "IGDS" EXACT []
synonym: "IRID 1" EXACT []
synonym: "IRID 2" EXACT []
synonym: "iridogoniodysgenesis type 1" EXACT []
synonym: "iridogoniodysgenesis type 2" EXACT []
xref: OMIM:137600
xref: OMIM:601631
xref: ORDO:98634
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-11-12T10:28:51Z

[Term]
id: DOID:0050787
name: juvenile polyposis syndrome
def: "An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/]
xref: OMIM:174900
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-11-12T11:25:28Z

[Term]
id: DOID:0050788
name: proximal symphalangism
def: "An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness." [url:http\://omim.org/entry/185800?search=185800&highlight=185800, url:http\://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250]
synonym: "Cushing's symphalangism" EXACT []
xref: KEGG:H00484
xref: OMIM:185800
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-11-12T11:43:22Z

[Term]
id: DOID:0050789
name: tarsal-carpal coalition syndrome
def: "An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion." [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:http\://omim.org/entry/186570?search=186570&highlight=186570, url:http\://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/22326510, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412]
xref: OMIM:186570
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-11-12T11:50:00Z

[Term]
id: DOID:0050790
name: fibular hypoplasia and complex brachydactyly
def: "An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly." [url:http\://omim.org/entry/228900?search=228900&highlight=228900, url:http\://www.ncbi.nlm.nih.gov/pubmed/16222676, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple]
synonym: "Du Pan syndrome" EXACT []
xref: KEGG:H00467
xref: OMIM:228900
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-11-12T12:21:56Z

[Term]
id: DOID:0050791
name: persistent mullerian duct syndrome
def: "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male." [url:http\://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome, url:http\://omim.org/entry/261550?search=261550&highlight=261550, url:http\://www.ncbi.nlm.nih.gov/pubmed/20352001, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856]
xref: MSH:C536665
xref: OMIM:261550
is_a: DOID:3765 ! pseudohermaphroditism
created_by: lschriml
creation_date: 2013-11-12T12:26:49Z

[Term]
id: DOID:0050792
name: multiple cutaneous and mucosal venous malformations
def: "An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions." [url:http\://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations, url:http\://omim.org/entry/600195?search=600195&highlight=600195, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301733]
xref: OMIM:600195
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-11-12T12:38:33Z

[Term]
id: DOID:0050793
name: short QT syndrome
def: "An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart." [url:http\://en.wikipedia.org/wiki/Short_QT_syndrome, url:http\://ghr.nlm.nih.gov/condition/short-qt-syndrome, url:http\://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083]
xref: OMIM:609620
xref: OMIM:609621
xref: OMIM:609622
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2013-11-12T12:59:42Z

[Term]
id: DOID:0050794
name: multiple synostoses syndrome
def: "A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance." [url:http\://rarediseases.info.nih.gov/gard/3836/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237]
xref: OMIM:186500
xref: OMIM:610017
xref: OMIM:612961
is_a: DOID:1934 ! dysostosis
created_by: lschriml
creation_date: 2013-11-12T01:08:42Z

[Term]
id: DOID:0050795
name: cone dystrophy
def: "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract]
synonym: "retinal cone dystrophy" EXACT []
xref: OMIM:180020
xref: OMIM:610024
xref: OMIM:610356
xref: OMIM:610478
is_a: DOID:5679 ! retinal disease
created_by: lschriml
creation_date: 2013-11-12T01:19:22Z

[Term]
id: DOID:0050796
name: achalasia microcephaly syndrome
def: "An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)." [url:http\://omim.org/entry/200450, url:http\://rarediseases.info.nih.gov/gard/456/disease/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN]
synonym: "Achalasia microcephaly" EXACT []
synonym: "ACHALASIA-MICROCEPHALY SYNDROME" EXACT []
xref: MSH:C536010
xref: OMIM:200450
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-11-20T03:01:06Z

[Term]
id: DOID:0050797
name: peroxisomal acyl-CoA oxidase deficiency
def: "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11815777, url:http\://www.ncbi.nlm.nih.gov/pubmed/17458872, url:http\://www.ncbi.nlm.nih.gov/pubmed/18536048, url:http\://www.omim.org/entry/264470, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971]
synonym: "Peroxisomal acyl-coenzyme A oxidase" EXACT []
xref: MSH:C536662
xref: OMIM:264470
is_a: DOID:906 ! peroxisomal disease
created_by: lschriml
creation_date: 2013-11-21T10:47:41Z

[Term]
id: DOID:0050798
name: cerebral creatine deficiency syndrome
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z

[Term]
id: DOID:0050799
name: guanidinoacetate methyltransferase deficiency
synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 2" EXACT []
synonym: "GAMT deficiency" EXACT []
xref: OMIM:612736
is_a: DOID:0050798 ! cerebral creatine deficiency syndrome
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z

[Term]
id: DOID:0050800
name: creatine transporter deficiency
synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 1" EXACT []
synonym: "SLC6A8 deficiency" EXACT []
xref: OMIM:300352
is_a: DOID:0050798 ! cerebral creatine deficiency syndrome
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z

[Term]
id: DOID:0050801
name: androgenic alopecia
synonym: "alopecia androgenetica, male pattern baldness" EXACT []
synonym: "androgenetic alopecia" EXACT []
xref: OMIM:109200
xref: OMIM:300710
xref: OMIM:612421
is_a: DOID:987 ! alopecia
created_by: lschriml
creation_date: 2013-11-21T12:48:07Z

[Term]
id: DOID:0050802
name: Ehlers-Danlos syndrome progeroid type
def: "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001468.htm, url:http\://www.omim.org/entry/615349?search=130070&highlight=130070, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type]
synonym: "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2" EXACT []
xref: OMIM:615349
is_a: DOID:13359 ! Ehlers-Danlos syndrome
created_by: lschriml
creation_date: 2013-12-02T11:55:24Z

[Term]
id: DOID:0050803
name: glioblastoma classical subtype
def: "A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475]
is_a: DOID:3068 ! glioblastoma multiforme
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z

[Term]
id: DOID:0050804
name: glioblastoma proneural subtype
def: "A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035]
is_a: DOID:3068 ! glioblastoma multiforme
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z

[Term]
id: DOID:0050805
name: glioblastoma mesenchymal subtype
def: "A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035]
is_a: DOID:3068 ! glioblastoma multiforme
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z

[Term]
id: DOID:0050806
name: glioblastoma neural subtype
def: "A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035]
is_a: DOID:3068 ! glioblastoma multiforme
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z

[Term]
id: DOID:0050807
name: Kahrizi syndrome
def: "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene." [url:http\://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972]
xref: OMIM:612713
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-12-02T02:28:58Z

[Term]
id: DOID:0050808
name: mucopolysaccharidosis IV
is_obsolete: true
created_by: lschriml
creation_date: 2013-12-02T02:56:58Z

[Term]
id: DOID:0050809
name: mucopolysaccharidosis IX
def: "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII]
xref: OMIM:601492
is_a: DOID:12798 ! mucopolysaccharidosis
created_by: lschriml
creation_date: 2013-12-02T02:56:58Z

[Term]
id: DOID:0050810
name: biotin deficiency
def: "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth." [url:http\://en.wikipedia.org/wiki/Biotin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html]
synonym: "B7 deficiency" EXACT []
is_a: DOID:5113 ! nutritional deficiency disease
created_by: lschriml
creation_date: 2013-12-02T03:46:44Z

[Term]
id: DOID:0050811
name: congenital adrenal hyperplasia
def: "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency." [url:http\://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&, url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0]
comment: Xref MGI.
synonym: "adrenal hyperplasia 1" EXACT []
synonym: "congenital lipoid adrenal hyperplasia " EXACT []
synonym: "lipoid CAH" EXACT []
xref: ICD10CM:E25.0
xref: ICD9CM:255.2
xref: OMIM:201710
xref: OMIM:201810
xref: OMIM:201910
xref: OMIM:202010
xref: OMIM:202110
xref: ORDO:418
is_a: DOID:1701 ! steroid inherited metabolic disorder
created_by: lschriml
creation_date: 2013-12-04T12:52:02Z

[Term]
id: DOID:0050812
name: spondyloepimetaphyseal dysplasia, Pakistani type
def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [url:http\://omim.org/entry/612847, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282]
synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT []
xref: OMIM:612847
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: lschriml
creation_date: 2013-12-04T01:24:55Z

[Term]
id: DOID:0050813
name: spondyloepiphyseal dysplasia with congenital joint dislocations
def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." [url:http\://omim.org/entry/143095?search=143095&highlight=143095, url:http\://www.informatics.jax.org/disease/143095, url:http\://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/, url:http\://www.uniprot.org/diseases/DI-01753]
synonym: "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS" EXACT []
synonym: "CHST3-Related Skeletal Dysplasia" EXACT []
synonym: "Humero-spinal dysostosis with congenital heart disease" EXACT []
synonym: "Humerospinal Dysostosis" EXACT []
synonym: "Humerospinal dysostosis" EXACT []
synonym: "Kozlowski Celermajer Tink syndrome" EXACT []
synonym: "Omani Type" EXACT []
synonym: "Spondyloepiphyseal Dysplasia" EXACT []
xref: OMIM:143095
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: lschriml
creation_date: 2013-12-04T01:30:01Z

[Term]
id: DOID:0050814
name: temtamy preaxial brachydactyly syndrome
def: "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21129728, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, url:http\://www.sciencedirect.com/science/article/pii/S1769721213002449]
synonym: "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE" EXACT []
xref: OMIM:605282
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-12-05T12:12:10Z

[Term]
id: DOID:0050815
name: adnexa disease
is_a: DOID:1492 ! eye and adnexa disease
created_by: lschriml
creation_date: 2013-12-05T12:55:42Z

[Term]
id: DOID:0050816
name: urofacial syndrome
def: "An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding." [url:http\://en.wikipedia.org/wiki/Urofacial_syndrome, url:http\://omim.org/entry/236730, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704]
synonym: "hydronephrosis with peculiar facial expression" EXACT []
synonym: "Ochoa syndrome" EXACT []
xref: OMIM:236730
xref: OMIM:615112
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2013-12-05T01:10:52Z

[Term]
id: DOID:0050817
name: Stargardt disease
def: "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." [url:http\://en.wikipedia.org/wiki/Stargardt_disease]
synonym: "STARGARDT DISEASE 1" EXACT []
xref: OMIM:248200
xref: OMIM:600110
xref: OMIM:603786
is_a: DOID:10871 ! age related macular degeneration
created_by: lschriml
creation_date: 2013-12-11T01:49:54Z

[Term]
id: DOID:0050818
name: transcobalamin II deficiency
def: "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII." [url:http\://omim.org/entry/275350, url:https\://www.orpha.net/data/patho/GB/uk-TCII.pdf‎]
synonym: "TCN2 deficiency" EXACT []
xref: OMIM:275350
is_a: DOID:0050731 ! vitamin B12 deficiency
created_by: lschriml
creation_date: 2013-12-11T02:48:06Z

[Term]
id: DOID:0050819
name: Matthew-Wood syndrome
def: "An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect." [url:http\://omim.org/entry/601186?search=%22syndromic%20MICROPHTHALMIa%22&highlight=%22%28syndrome|syndromic%29%20microphthalmia%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/17236193, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470]
synonym: "MCOPS9" EXACT []
synonym: "microphthalmia syndromic type 9 " EXACT []
xref: OMIM:601186
is_a: DOID:0050739 ! autosomal genetic disease
created_by: lschriml
creation_date: 2013-12-11T03:11:49Z

[Term]
id: DOID:0050820
name: atrioventricular block
def: "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart." [url:http\://en.wikipedia.org/wiki/Atrioventricular_block]
synonym: "AV block" EXACT []
xref: MSH:D054537
is_a: DOID:10273 ! heart conduction disease
created_by: lschriml
creation_date: 2014-02-12T01:35:05Z

[Term]
id: DOID:0050821
name: first-degree atrioventricular block
is_a: DOID:0050820 ! atrioventricular block
created_by: lschriml
creation_date: 2014-02-12T01:39:42Z

[Term]
id: DOID:0050822
name: second-degree atrioventricular block
synonym: "second-degree heart block" EXACT []
is_a: DOID:0050820 ! atrioventricular block
created_by: lschriml
creation_date: 2014-02-12T01:39:42Z

[Term]
id: DOID:0050823
name: third-degree atrioventricular block
synonym: "complete AV block" EXACT []
is_a: DOID:0050820 ! atrioventricular block
created_by: lschriml
creation_date: 2014-02-12T01:39:42Z

[Term]
id: DOID:0050824
name: sinoatrial node disease
def: "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm." [url:http\://en.wikipedia.org/wiki/Sinoatrial_node]
synonym: "SA node" EXACT []
synonym: "sinuatrial node" EXACT []
is_a: DOID:10273 ! heart conduction disease
created_by: lschriml
creation_date: 2014-02-12T01:47:54Z

[Term]
id: DOID:0050825
name: endocardium disease
def: "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart." [url:http\://en.wikipedia.org/wiki/Endocardium, url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCkQFjAA&url=http%3A%2F%2Fpeople.upei.ca%2Flmiller%2F2009_CV_Endocardial_Pathology%2FENDOCARDIUM-2009.pdf&ei=SsP7UsjSH8Tx0gGbgYHQAw&usg=AFQjCNH2MScGQBlPP4MG_tL5dAiBiQY_YA&sig2=nbNfx77zxOxnTA9O875QeQ&bvm=bv.61190604\,d.dmQ&cad=rja]
is_a: DOID:114 ! heart disease
created_by: lschriml
creation_date: 2014-02-12T01:53:42Z

[Term]
id: DOID:0050826
name: tricuspid valve disease
alt_id: DOID:13834
synonym: "disease of tricuspid valve" EXACT [ICD9CM_2006:397.0]
synonym: "RH. tricuspid valve disease" EXACT [SNOMEDCT_2005_07_31:155289000, SNOMEDCT_2005_07_31:266282000]
synonym: "Rheumatic disease of tricuspid valve (disorder)" EXACT [SNOMEDCT_2005_07_31:49699002]
synonym: "rheumatic tricuspid valve disease" EXACT []
synonym: "Rheumatic tricuspid valve disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194745002]
synonym: "Tricuspid disease" EXACT [MTHICD9_2006:397.0]
xref: ICD9CM:397.0
xref: SNOMEDCT_2010_1_31:155289000
xref: SNOMEDCT_2010_1_31:194745002
xref: SNOMEDCT_2010_1_31:266282000
xref: SNOMEDCT_2010_1_31:49699002
xref: UMLS_CUI:C0264776
is_a: DOID:4079 ! heart valve disease
created_by: lschriml
creation_date: 2014-02-12T02:55:24Z

[Term]
id: DOID:0050827
name: rheumatic heart disease
def: "A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage." [url:http\://en.wikipedia.org/wiki/Rheumatic_heart_disease]
is_a: DOID:4079 ! heart valve disease
created_by: lschriml
creation_date: 2014-02-12T03:03:38Z

[Term]
id: DOID:0050828
name: artery disease
def: "A vascular disease that is located_in an artery." [url:http\://en.wikipedia.org/wiki/Artery#Pathology]
is_a: DOID:178 ! vascular disease
created_by: lschriml
creation_date: 2014-02-12T03:08:35Z

[Term]
id: DOID:0050829
name: pericardium disease
def: "A cardiovascular system disease that is located_in the  fibrous sac surrounding the heart." [url:http\://en.wikipedia.org/wiki/Pericardium]
is_a: DOID:1287 ! cardiovascular system disease
created_by: lschriml
creation_date: 2014-02-18T12:20:15Z

[Term]
id: DOID:0050830
name: peripheral artery disease
def: "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000170.htm, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/pad/]
is_a: DOID:0050828 ! artery disease
created_by: lschriml
creation_date: 2014-02-18T12:41:09Z

[Term]
id: DOID:0050831
name: familial encephalopathy with neuroserpin inclusion bodies
def: "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern." [url:http\://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, url:http\://www.jbc.org/content/277/19/17367, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport]
synonym: "FENIB" EXACT []
xref: OMIM:604218
is_a: DOID:1289 ! neurodegenerative disease
created_by: lschriml
creation_date: 2014-02-24T10:14:57Z

[Term]
id: DOID:0050832
name: pyrimidine metabolic disorder
def: "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism." [url:http\://en.wikipedia.org/wiki/Pyrimidine_metabolism, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9]
is_a: DOID:655 ! inherited metabolic disorder
created_by: lschriml
creation_date: 2014-02-24T10:29:22Z

[Term]
id: DOID:0050833
name: orotic aciduria
def: "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine." [url:http\://en.wikipedia.org/wiki/Orotic_aciduria, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9, url:http\://www.omim.org/entry/258900]
xref: OMIM:258900
is_a: DOID:0050832 ! pyrimidine metabolic disorder
created_by: lschriml
creation_date: 2014-02-24T10:29:22Z

[Term]
id: DOID:0050834
name: CHARGE syndrome
def: "A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract]
synonym: "CHARGE association" EXACT []
xref: ICD10:Q87.8
xref: ICD9CM:759.89
xref: MSH:D058747
xref: OMIM:214800
xref: ORDO:138
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2014-03-18T11:58:38Z

[Term]
id: DOID:0050835
name: generalized dystonia
alt_id: DOID:11910
alt_id: DOID:11911
alt_id: DOID:11912
alt_id: DOID:14164
alt_id: DOID:5159
alt_id: DOID:531
def: "A dystonia that affects most or all of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
comment: MSH:C538001 added from NeuroDevNet [WAK].
synonym: "Dystonia 12" RELATED [MSH:C538001]
synonym: "dystonia deformans progressiva" EXACT [CSP2005:2057-3370]
synonym: "Dystonia lenticularis (disorder)" EXACT [SNOMEDCT_2005_07_31:52274002]
synonym: "dystonia musculorum deformans" EXACT []
synonym: "Dystonia, deformans progressiva" EXACT [MTHICD9_2006:333.6]
synonym: "familial dystonia" EXACT []
synonym: "Familiar Dystonia" EXACT [NCI2004_11_17:C35527]
synonym: "Familiar Idiopathic Dystonia" EXACT [NCI2004_11_17:C35437]
synonym: "fragments of torsion dystonia" EXACT []
synonym: "Idiopathic familial dystonia" EXACT [SNOMEDCT_2005_07_31:192852006]
synonym: "idiopathic familial dystonia" EXACT []
synonym: "Idiopathic familial dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:230318005]
synonym: "idiopathic non-familial dystonia" EXACT []
synonym: "Idiopathic non-familial dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:230321007]
synonym: "Idiopathic torsion dystonia" EXACT [ICD9CM_2006:333.6, SNOMEDCT_2005_07_31:155008004]
synonym: "Idiopathic Torsion Dystonia" EXACT [NCI2004_11_17:C34564]
synonym: "Idiopathic torsion dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:22451001]
synonym: "Non-familiar Idiopathic Dystonia" EXACT [NCI2004_11_17:C35438]
synonym: "symptomatic torsion dystonia" EXACT []
synonym: "Symptomatic torsion dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:55776008]
synonym: "Symptomatic torsion dystonia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192858005]
xref: ICD9CM:333.6
xref: ICD9CM:333.8
xref: MSH:C538001
xref: MSH:D004422
xref: MSH:D020821
xref: NCI:C34564
xref: NCI:C35437
xref: NCI:C35438
xref: NCI:C35527
xref: OMIM:128100
xref: SNOMEDCT_2010_1_31:155008004
xref: SNOMEDCT_2010_1_31:192852006
xref: SNOMEDCT_2010_1_31:192853001
xref: SNOMEDCT_2010_1_31:192858005
xref: SNOMEDCT_2010_1_31:192859002
xref: SNOMEDCT_2010_1_31:192862004
xref: SNOMEDCT_2010_1_31:22451001
xref: SNOMEDCT_2010_1_31:230318005
xref: SNOMEDCT_2010_1_31:230321007
xref: SNOMEDCT_2010_1_31:267584007
xref: SNOMEDCT_2010_1_31:431034009
xref: SNOMEDCT_2010_1_31:52274002
xref: SNOMEDCT_2010_1_31:55776008
xref: SNOMEDCT_2010_1_31:57937000
xref: UMLS_CUI:C0013423
xref: UMLS_CUI:C0154674
xref: UMLS_CUI:C0154675
xref: UMLS_CUI:C0393598
xref: UMLS_CUI:C0393601
xref: UMLS_CUI:C0752207
is_a: DOID:543 ! dystonia
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z

[Term]
id: DOID:0050836
name: focal dystonia
def: "A dystonia that is localized to a specific part of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
is_a: DOID:543 ! dystonia
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z

[Term]
id: DOID:0050837
name: multifocal dystonia
def: "A dystonia that involves two or more unrelated body parts." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
is_a: DOID:543 ! dystonia
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z

[Term]
id: DOID:0050838
name: segmental dystonia
def: "A dystonia that affects two or more adjacent parts of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
is_a: DOID:543 ! dystonia
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z

[Term]
id: DOID:0050839
name: anismus
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z

[Term]
id: DOID:0050840
name: cervical dystonia
def: "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards." [url:http\://en.wikipedia.org/wiki/Spasmodic_torticollis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "spasmodic torticollis" EXACT []
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z

[Term]
id: DOID:0050841
name: focal hand dystonia
alt_id: DOID:13467
def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." [url:http\://en.wikipedia.org/wiki/Dystonia]
synonym: "organic writer's cramp" EXACT []
xref: ICD9CM:333.84
xref: MSH:D020821
xref: SNOMEDCT_2010_1_31:155009007
xref: SNOMEDCT_2010_1_31:267690000
xref: SNOMEDCT_2010_1_31:52008007
xref: SNOMEDCT_2010_1_31:79994003
xref: UMLS_CUI:C0154676
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z

[Term]
id: DOID:0050842
name: oculogyric crisis
def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." [url:http\://en.wikipedia.org/wiki/Oculogyric_crisis]
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z

[Term]
id: DOID:0050843
name: oromandibular dystonia
def: "A focal dystonia that is characterized by distortions of the mouth and tongue." [url:http\://en.wikipedia.org/wiki/Oromandibular_dystonia]
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z

[Term]
id: DOID:0050844
name: spasmodic dystonia
def: "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech." [url:http\://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx]
synonym: "laryngeal dystonia" EXACT []
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z

[Term]
id: DOID:0050845
name: cranio-facial dystonia
def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
is_a: DOID:0050836 ! focal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:33:33Z

[Term]
id: DOID:0050846
name: hemidystonia
def: "A multifocal dystonia that involves the arm and leg on the same side of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
is_a: DOID:0050837 ! multifocal dystonia
created_by: lschriml
creation_date: 2014-03-18T01:39:30Z

[Term]
id: DOID:0050847
name: sleep apnea
def: "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep." [url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/]
is_a: DOID:535 ! sleep disorder
created_by: lschriml
creation_date: 2014-03-20T03:57:22Z

[Term]
id: DOID:0050848
name: obstructive sleep apnea
def: "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep." [url:http\://en.wikipedia.org/wiki/Obstructive_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000811.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1]
comment: Xref MGI.
synonym: "obstructive sleep apnea syndrome" EXACT []
xref: ICD10CM:G47.3
xref: ICD9CM:327.23
xref: MSH:D012891
xref: OMIM:107650
is_a: DOID:0050847 ! sleep apnea
created_by: lschriml
creation_date: 2014-03-20T03:57:22Z

[Term]
id: DOID:0050849
name: periampullary adenoma
is_a: DOID:10022 ! ampulla of vater neoplasm
created_by: lschriml
creation_date: 2014-04-15T03:26:13Z

[Term]
id: DOID:0050850
name: diabetic encephalopathy
is_a: DOID:936 ! brain disease
created_by: lschriml
creation_date: 2014-04-15T03:33:49Z

[Term]
id: DOID:0050851
name: glomerulosclerosis
def: "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." [url:http\://en.wikipedia.org/wiki/Glomerulosclerosis]
is_a: DOID:2921 ! glomerulonephritis
created_by: lschriml
creation_date: 2014-04-15T03:40:31Z

[Term]
id: DOID:0050852
name: limb ischemia
is_a: DOID:326 ! ischemia
created_by: lschriml
creation_date: 2014-04-15T03:46:27Z

[Term]
id: DOID:0050853
name: chronic venous insufficiency
is_a: DOID:10128 ! venous insufficiency
created_by: lschriml
creation_date: 2014-04-15T03:50:26Z

[Term]
id: DOID:0050854
name: Muckle-Wells syndrome
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2014-04-15T03:53:41Z

[Term]
id: DOID:0050855
name: renal fibrosis
is_a: DOID:557 ! kidney disease
created_by: lschriml
creation_date: 2014-04-15T03:56:58Z

[Term]
id: DOID:0050856
name: oppositional defiant disorder
is_a: DOID:0060038 ! specific developmental disorder
created_by: lschriml
creation_date: 2014-04-15T04:03:08Z

[Term]
id: DOID:0050857
name: Perrault syndrome
def: "An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure." [url:http\://ghr.nlm.nih.gov/gene/LARS2, url:http\://www.ncbi.nlm.nih.gov/pubmed/23541340]
xref: OMIM:233400
xref: OMIM:614129
xref: OMIM:614926
xref: OMIM:615300
xref: Orphanet:ORPHA2855
is_a: DOID:0050737 ! autosomal recessive disease
created_by: lschriml
creation_date: 2014-04-24T01:56:35Z

[Term]
id: DOID:0050858
name: Marshall-Smith syndrome
def: "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation." [url:http\://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, url:http\://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1]
xref: OMIM:602535
xref: Orphanet:ORPHA561
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2014-04-24T02:06:30Z

[Term]
id: DOID:0050859
name: hemorrhagic cystitis
is_a: DOID:1679 ! cystitis
created_by: lschriml
creation_date: 2014-04-29T01:31:08Z

[Term]
id: DOID:0050860
name: colorectal adenoma
is_a: DOID:4610 ! intestinal benign neoplasm
created_by: lschriml
creation_date: 2014-05-05T03:14:49Z

[Term]
id: DOID:0050861
name: colorectal adenocarcinoma
def: "A colorectal cancer that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma]
subset: DO_cancer_slim
is_a: DOID:9256 ! colorectal cancer
created_by: lschriml
creation_date: 2014-05-05T03:16:55Z

[Term]
id: DOID:0050862
name: pyometritis
is_a: DOID:345 ! uterine disease
created_by: lschriml
creation_date: 2014-05-05T03:25:57Z

[Term]
id: DOID:0050863
name: arteritic anterior ischemic optic neuropathy
is_a: DOID:12010 ! anterior ischemic optic neuropathy
created_by: lschriml
creation_date: 2014-05-09T02:38:13Z

[Term]
id: DOID:0050864
name: non-arteritic anterior ischemic optic neuropathy
synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT []
is_a: DOID:12010 ! anterior ischemic optic neuropathy
created_by: lschriml
creation_date: 2014-05-09T02:38:13Z

[Term]
id: DOID:0050865
name: tongue squamous cell carcinoma
def: "A tongue cancer that is located_in the squamous cells of the tongue." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma]
synonym: "squamous-cell carcinoma" EXACT []
xref: ICD10:C44
xref: MSH:D002294
is_a: DOID:8649 ! tongue cancer
created_by: lschriml
creation_date: 2014-05-12T02:38:44Z

[Term]
id: DOID:0050866
name: oral squamous cell carcinoma
def: "An oral cavity cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]
subset: DO_cancer_slim
synonym: "mouth squamous cell carcinoma" EXACT []
is_a: DOID:8618 ! oral cavity cancer
created_by: lschriml
creation_date: 2014-05-12T02:45:04Z

[Term]
id: DOID:0050867
name: Jensen syndrome
def: "A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia." [url:http\://omim.org/entry/311150, url:http\://www.ncbi.nlm.nih.gov/pubmed/3425626, url:http\://www.ncbi.nlm.nih.gov/pubmed/7195649, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple]
synonym: "OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA" EXACT []
xref: OMIM:311150
xref: Orphanet:ORPHA3213
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2014-06-03T01:18:20Z

[Term]
id: DOID:0050868
name: hepatocellular adenoma
is_a: DOID:657 ! adenoma
created_by: lschriml
creation_date: 2014-06-25T05:07:35Z

[Term]
id: DOID:0050869
name: villous adenoma
is_a: DOID:657 ! adenoma
created_by: lschriml
creation_date: 2014-06-25T05:08:30Z

[Term]
id: DOID:0050870
name: in situ pulmonary adenocarcinoma
def: "A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern." [url:http\://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma]
synonym: "bronchioalveolar carcinoma" EXACT []
is_a: DOID:1324 ! lung cancer
created_by: lschriml
creation_date: 2014-06-25T05:10:52Z

[Term]
id: DOID:0050871
name: fibroma
is_a: DOID:0060084 ! cell type benign neoplasm
created_by: lschriml
creation_date: 2014-06-25T05:14:03Z

[Term]
id: DOID:0050872
name: large cell neuroendocrine carcinoma
is_a: DOID:4556 ! lung large cell carcinoma
created_by: lschriml
creation_date: 2014-06-25T05:17:11Z

[Term]
id: DOID:0050873
name: follicular lymphoma
def: "A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)." [url:http\://en.wikipedia.org/wiki/Follicular_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=428287]
subset: DO_cancer_slim
is_a: DOID:0060060 ! non-Hodgkin lymphoma
created_by: lschriml
creation_date: 2014-06-25T05:24:10Z

[Term]
id: DOID:0050875
name: small cell neuroendocrine carcinoma
is_a: DOID:5409 ! lung small cell carcinoma
created_by: lschriml
creation_date: 2014-06-25T05:31:24Z

[Term]
id: DOID:0050876
name: Caroli disease
def: "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts." [url:http\://en.wikipedia.org/wiki/Caroli_disease, url:http\://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract]
xref: MSH:D016767
is_a: DOID:4138 ! bile duct disease
created_by: lschriml
creation_date: 2014-07-09T01:28:09Z

[Term]
id: DOID:0050877
name: pancreatic agenesis
def: "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth." [url:http\://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805]
synonym: "partial pancreatic agenesis" EXACT []
xref: OMIM:260370
is_a: DOID:26 ! pancreas disease
created_by: lschriml
creation_date: 2014-07-09T03:35:41Z

[Term]
id: DOID:0050878
name: CLONE OF congenital afibrinogenemia
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Factor I deficiency" EXACT [NCI2004_11_17:C26692]
synonym: "Fibrinogen deficiency" EXACT [SNOMEDCT_2005_07_31:29718007]
xref: MSH:D000347
xref: NCI:C26692
xref: OMIM:202400
xref: SNOMEDCT_2010_1_31:234621005
xref: SNOMEDCT_2010_1_31:278504009
xref: SNOMEDCT_2010_1_31:29718007
xref: SNOMEDCT_2010_1_31:359727008
xref: UMLS_CUI:C0001733
is_obsolete: true
created_by: lschriml
creation_date: 2014-07-29T01:17:13Z

[Term]
id: DOID:0050879
name: fragile X-associated tremor/ataxia syndrome
def: "A neurodegenerative disease that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA." [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.ncbi.nlm.nih.gov/pubmed/18195136, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256]
synonym: "FXTAS syndrome" EXACT []
xref: OMIM:300623
is_a: DOID:0050735 ! X-linked disease
is_a: DOID:1289 ! neurodegenerative disease
created_by: lschriml
creation_date: 2014-08-04T01:52:12Z

[Term]
id: DOID:0050880
name: Koolen de Vries syndrome
def: "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene." [url:http\://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, url:http\://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, url:http\://omim.org/entry/610443, url:http\://www.17q21.com/en/, url:http\://www.ncbi.nlm.nih.gov/books/NBK24676/, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544363, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544367, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169]
synonym: "17q21.31 microdeletion syndrome" EXACT []
synonym: "KANSL1-related intellectual disability syndrome" EXACT []
synonym: "KdVS" EXACT []
synonym: "Koolen-De Vries syndrome" EXACT []
xref: OMIM:610443
xref: ORDO:96169
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2014-08-06T12:57:12Z

[Term]
id: DOID:0050881
name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
def: "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP)." [url:http\://omim.org/entry/167320, url:http\://www.ncbi.nlm.nih.gov/pubmed/19380227, url:http\://www.ncbi.nlm.nih.gov/pubmed/21892620, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=21304887, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple]
synonym: "IBMPFD" EXACT []
synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT []
xref: OMIM:167320
xref: OMIM:615422
xref: OMIM:615424
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2014-08-06T02:30:16Z

[Term]
id: DOID:0050882
name: spinocerebellar ataxia type 5
def: "A spinocerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene." [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=20368622, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766]
xref: OMIM:600224
is_a: DOID:1441 ! spinocerebellar ataxia
created_by: lschriml
creation_date: 2014-08-06T03:51:03Z

[Term]
id: DOID:0050883
name: infantile cerebellar-retinal degeneration
def: "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration." [url:http\://omim.org/entry/614559, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=22405087, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23438437, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, url:http\://www.uniprot.org/diseases/DI-03409]
xref: OMIM:614559
is_a: DOID:1289 ! neurodegenerative disease
created_by: lschriml
creation_date: 2014-08-06T04:09:42Z

[Term]
id: DOID:0050884
name: triosephosphate isomerase deficiency
def: "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait." [url:http\://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, url:http\://omim.org/entry/615512, url:http\://www.ncbi.nlm.nih.gov/pubmed/16980388, url:http\://www.ncbi.nlm.nih.gov/pubmed/17424909, url:http\://www.ncbi.nlm.nih.gov/pubmed/23318931, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport]
synonym: "Triose phosphate-isomerase deficiency" EXACT []
xref: OMIM:190450
xref: OMIM:615512
is_a: DOID:4194 ! glucose metabolism disease
created_by: lschriml
creation_date: 2014-08-07T11:44:31Z

[Term]
id: DOID:0050885
name: IMAGe syndrome
def: "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene." [url:http\://omim.org/entry/614732, url:http\://www.ncbi.nlm.nih.gov/pubmed/14760276, url:http\://www.ncbi.nlm.nih.gov/pubmed/22634751, url:http\://www.ncbi.nlm.nih.gov/pubmed/23719190, url:http\://www.ncbi.nlm.nih.gov/pubmed/24065356, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173]
synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT []
xref: OMIM:614732
is_a: DOID:225 ! syndrome
created_by: lschriml
creation_date: 2014-08-07T12:04:30Z

[Term]
id: DOID:0050886
name: Troyer syndrome
def: "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene." [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301556, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple]
synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT []
synonym: "spastic paraplegia type 20" EXACT []
xref: OMIM:275900
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: lschriml
creation_date: 2014-08-07T12:18:56Z

[Term]
id: DOID:0050887
name: Townes-Brocks syndrome
def: "An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations." [url:http\://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome, url:http\://ghr.nlm.nih.gov/condition/townes-brocks-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=12925729, url:http\://www.omim.org/entry/107480, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple]
xref: OMIM:107480
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2014-08-11T03:58:35Z

[Term]
id: DOID:0050888
name: syndromic intellectual disability
def: "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms." [url:http\://en.wikipedia.org/wiki/Intellectual_disability]
xref: OMIM:300486
xref: OMIM:300860
xref: OMIM:309583
is_a: DOID:1059 ! intellectual disability
created_by: lschriml
creation_date: 2014-08-14T10:55:32Z

[Term]
id: DOID:0050889
name: non-syndromic intellectual disability
def: "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms." [url:http\://en.wikipedia.org/wiki/Intellectual_disability, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/]
xref: OMIM:613192
xref: OMIM:614202
is_a: DOID:1059 ! intellectual disability
created_by: lschriml
creation_date: 2014-08-14T10:57:36Z

[Term]
id: DOID:0050890
name: synucleinopathy
def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells." [url:http\://en.wikipedia.org/wiki/Synucleinopathies]
synonym: "alpha Synucleinopathies " EXACT []
synonym: "Synucleinopathies " RELATED []
is_a: DOID:1289 ! neurodegenerative disease
created_by: lschriml
creation_date: 2014-08-14T03:29:17Z

[Term]
id: DOID:0050891
name: adrenal cortical adenoma
def: "An adrenal adenoma that is a benign tumor of the adrenal cortex." [url:http\://en.wikipedia.org/wiki/Adrenocortical_adenoma]
synonym: "adrenocortical adenoma" EXACT []
is_a: DOID:656 ! adrenal adenoma
created_by: lschriml
creation_date: 2014-09-04T01:54:59Z

[Term]
id: DOID:0050892
name: adrenal gland pheochromocytoma
def: "An adrenal medulla cancer that is characterized by overproduction of adrenaline." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma, url:http\://en.wikipedia.org/wiki/Pheochromocytoma, url:http\://www.cancer.gov/cancertopics/types/pheochromocytoma]
subset: DO_cancer_slim
is_a: DOID:5719 ! adrenal medulla cancer
created_by: lschriml
creation_date: 2014-09-11T01:01:57Z

[Term]
id: DOID:0050893
name: gallbladder adenoma
def: "A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Adenoma]
is_a: DOID:0050625 ! biliary tract neoplasm
created_by: lschriml
creation_date: 2014-09-11T01:53:07Z

[Term]
id: DOID:0050894
name: ameloblastoma
def: "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium." [url:http\://en.wikipedia.org/wiki/Ameloblastoma]
is_a: DOID:0060084 ! cell type benign neoplasm
created_by: lschriml
creation_date: 2014-09-11T02:44:50Z

[Term]
id: DOID:0050895
name: bone ameloblastoma
def: "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone." [url:http\://en.wikipedia.org/wiki/Ameloblastoma]
is_a: DOID:0060094 ! bone benign neoplasm
created_by: lschriml
creation_date: 2014-09-11T02:46:51Z

[Term]
id: DOID:0050896
name: bone squamous cell carcinoma
def: "A bone carcinoma that derives_from squamous epithelial cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]
subset: DO_cancer_slim
is_a: DOID:2762 ! bone carcinoma
created_by: lschriml
creation_date: 2014-09-11T02:50:46Z

[Term]
id: DOID:0050897
name: bone chondrosarcoma
def: "A chondrosarcoma that is located_in bone." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma]
subset: DO_cancer_slim
is_a: DOID:3371 ! chondrosarcoma
created_by: lschriml
creation_date: 2014-09-11T02:55:07Z

[Term]
id: DOID:0050898
name: phalanx chondroma
def: "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells." [url:http\://en.wikipedia.org/wiki/Chondroma]
is_a: DOID:0060094 ! bone benign neoplasm
created_by: lschriml
creation_date: 2014-09-11T03:42:42Z

[Term]
id: DOID:0050899
name: brain stem medulloblastoma
def: "A brain stem cancer that begins in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma]
subset: DO_cancer_slim
is_a: DOID:4203 ! brain stem cancer
created_by: lschriml
creation_date: 2014-10-06T14:23:29Z

[Term]
id: DOID:0050900
name: sacrum chordoma
def: "A spinal chordoma that is located_in the sacrum." [url:http\://en.wikipedia.org/wiki/Sacrum, url:http\://www.cancer.gov/dictionary?CdrID=45297]
subset: DO_cancer_slim
is_a: DOID:4153 ! spinal chordoma
created_by: lschriml
creation_date: 2014-10-06T14:25:16Z

[Term]
id: DOID:0050901
name: corpus callosum oligodendroglioma
def: "A brain oligodendroglioma located_in the corpus callosum." [url:http\://en.wikipedia.org/wiki/Corpus_callosum, url:http\://en.wikipedia.org/wiki/Oligodendroglioma, url:http\://www.cancer.gov/dictionary?CdrID=46257]
subset: DO_cancer_slim
is_a: DOID:3187 ! brain oligodendroglioma
created_by: lschriml
creation_date: 2014-10-06T14:26:18Z

[Term]
id: DOID:0050902
name: medulloblastoma
alt_id: DOID:168
alt_id: DOID:3858
alt_id: DOID:4981
def: "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "CNS PNET" EXACT [NCI2004_11_17:C5398]
synonym: "CPNET" EXACT [SNOMEDCT_2005_07_31:39781001]
synonym: "infratentorial primitive neuroectodermal tumor " EXACT []
synonym: "localized primitive neuroectodermal tumor" EXACT []
xref: MSH:D008527
xref: MSH:D018242
xref: NCI:C3222
xref: NCI:C5398
xref: OMIM:155255
xref: SNOMEDCT_2010_1_31:189921005
xref: SNOMEDCT_2010_1_31:189925001
xref: SNOMEDCT_2010_1_31:39781001
xref: SNOMEDCT_2010_1_31:443333004
xref: SNOMEDCT_2010_1_31:83217000
xref: UMLS_CUI:C0025149
xref: UMLS_CUI:C0206663
xref: UMLS_CUI:C1334410
is_a: DOID:4706 ! infratentorial cancer
created_by: lschriml
creation_date: 2014-10-06T14:36:37Z

[Term]
id: DOID:0050903
name: parietal lobe ependymoma
def: "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain." [url:http\://www.cancer.gov/dictionary?CdrID=46432]
subset: DO_cancer_slim
is_a: DOID:14384 ! parietal lobe neoplasm
created_by: lschriml
creation_date: 2014-10-08T16:00:54Z

[Term]
id: DOID:0050904
name: salivary gland carcinoma
def: "A salivary gland cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Salivary_gland_neoplasm, url:http\://www.cancer.gov/dictionary?CdrID=45963]
subset: DO_cancer_slim
is_a: DOID:8850 ! salivary gland cancer
created_by: lschriml
creation_date: 2014-10-08T16:52:58Z

[Term]
id: DOID:0050905
name: inflammatory myofibroblastic tumor
def: "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23091756]
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: lschriml
creation_date: 2014-10-09T14:18:08Z

[Term]
id: DOID:0050906
name: conjunctival nevus
def: "A sensory organ benign neoplasm that is located in the eye conjunctiva." [url:http\://en.wikipedia.org/wiki/Conjunctiva, url:http\://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors]
is_a: DOID:0060096 ! sensory organ benign neoplasm
created_by: lschriml
creation_date: 2014-10-13T11:47:25Z

[Term]
id: DOID:0050907
name: mixed extragonadal germ cell cancer
def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, url:http\://www.cancer.gov/dictionary?CdrID=444993]
subset: DO_cancer_slim
is_a: DOID:3306 ! mixed germ cell cancer
created_by: lschriml
creation_date: 2014-10-13T12:37:37Z

[Term]
id: DOID:0050908
name: myelodysplastic syndrome
def: "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." [url:http\://en.wikipedia.org/wiki/Myelodysplastic_syndrome, url:http\://www.cancer.gov/dictionary?CdrID=45266]
subset: DO_cancer_slim
xref: ICD10:D46
xref: ICD9:238.7
xref: MSH:D009190
is_a: DOID:4960 ! bone marrow cancer
created_by: lschriml
creation_date: 2014-10-13T12:51:33Z

[Term]
id: DOID:0050909
name: MALT lymphoma
def: "A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production." [url:http\://www.cancer.gov/dictionary?CdrID=45774]
subset: DO_cancer_slim
synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT []
is_a: DOID:0060060 ! non-Hodgkin lymphoma
created_by: lschriml
creation_date: 2014-10-13T14:17:40Z

[Term]
id: DOID:0050910
name: cecum adenoma
def: "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma]
synonym: "caecum adenoma" EXACT []
is_a: DOID:1517 ! cecal benign neoplasm
created_by: lschriml
creation_date: 2014-10-13T14:41:01Z

[Term]
id: DOID:0050911
name: appendix carcinoid tumor
def: "An appendix cancer that has_material_basis_in neurodendocrine cells." [url:http\://en.wikipedia.org/wiki/Carcinoid, url:http\://www.cancer.gov/dictionary?CdrID=44233]
subset: DO_cancer_slim
synonym: "appendix carcinoid endocrine tumour" EXACT []
is_a: DOID:11239 ! appendix cancer
created_by: lschriml
creation_date: 2014-10-13T14:45:41Z

[Term]
id: DOID:0050912
name: colon adenoma
def: "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Colorectal_adenoma, url:http\://www.cancer.gov/dictionary?CdrID=46217]
is_a: DOID:235 ! colonic benign neoplasm
created_by: lschriml
creation_date: 2014-10-13T14:56:27Z

[Term]
id: DOID:0050913
name: large intestine adenocarcinoma
def: "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin." [url:http\://www.cancer.gov/dictionary?CdrID=46216]
subset: DO_cancer_slim
is_a: DOID:5672 ! large intestine cancer
created_by: lschriml
creation_date: 2014-10-13T15:00:10Z

[Term]
id: DOID:0050914
name: large intestine adenoma
def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine." [url:http\://en.wikipedia.org/wiki/Adenoma]
is_a: DOID:4610 ! intestinal benign neoplasm
created_by: lschriml
creation_date: 2014-10-13T15:07:10Z

[Term]
id: DOID:0050915
name: rectum adenoma
def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum." [url:http\://en.wikipedia.org/wiki/Adenoma]
is_a: DOID:1984 ! rectal neoplasm
created_by: lschriml
creation_date: 2014-10-13T15:09:51Z

[Term]
id: DOID:0050916
name: bronchus mucoepidermoid carcinoma
def: "A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma, url:http\://oralcancerfoundation.org/facts/rare/mc/]
subset: DO_cancer_slim
is_a: DOID:1325 ! bronchus cancer
created_by: lschriml
creation_date: 2014-10-13T15:13:54Z

[Term]
id: DOID:0050917
name: lung combined type small cell adenocarcinoma
def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin." [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45327, url:http\://www.cancer.gov/dictionary?CdrID=46216]
subset: DO_cancer_slim
is_a: DOID:5421 ! lung combined type small cell carcinoma
created_by: lschriml
creation_date: 2014-10-13T15:36:11Z

[Term]
id: DOID:0050918
name: vaginal carcinoma
def: "A vaginal cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma]
subset: DO_cancer_slim
is_a: DOID:119 ! vaginal cancer
created_by: lschriml
creation_date: 2014-10-21T11:37:19Z

[Term]
id: DOID:0050919
name: trachea mucoepidermoid carcinoma
def: "A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma]
subset: DO_cancer_slim
is_a: DOID:4876 ! trachea carcinoma
created_by: lschriml
creation_date: 2014-10-21T11:42:42Z

[Term]
id: DOID:0050920
name: tonsil squamous cell carcinoma
def: "A tonsil cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]
subset: DO_cancer_slim
is_a: DOID:8858 ! tonsil cancer
created_by: lschriml
creation_date: 2014-10-21T11:48:00Z

[Term]
id: DOID:0050921
name: pharynx squamous cell carcinoma
def: "A pharynx cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]
subset: DO_cancer_slim
is_a: DOID:0060119 ! pharynx cancer
created_by: lschriml
creation_date: 2014-10-21T11:54:00Z

[Term]
id: DOID:0050922
name: gastrointestinal carcinoma
def: "A gastrointestinal system cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma]
subset: DO_cancer_slim
is_a: DOID:3119 ! gastrointestinal system cancer
created_by: lschriml
creation_date: 2014-10-21T11:56:36Z

[Term]
id: DOID:0050923
name: spindle epithelial tumor with thymus-like differentiation tumor
def: "A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19417583, url:http\://www.ncbi.nlm.nih.gov/pubmed/2050369, url:http\://www.pathologyoutlines.com/topic/thyroidsettle.html, url:http\://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext]
subset: DO_cancer_slim
synonym: "SETTLE tumor" EXACT []
is_a: DOID:3963 ! thyroid carcinoma
created_by: lschriml
creation_date: 2014-10-21T12:26:31Z

[Term]
id: DOID:0050924
name: striated muscle rhabdoid tumor
def: "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm." [url:http\://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour, url:http\://www.cancer.gov/dictionary?CdrID=46139]
subset: DO_cancer_slim
is_a: DOID:4045 ! muscle cancer
created_by: lschriml
creation_date: 2014-10-21T12:38:23Z

[Term]
id: DOID:0050925
name: small intestine carcinoid neuroendocrine tumor
def: "A small intestine cancer that has_material_basis_in cells of the neuroendocrine system." [url:http\://en.wikipedia.org/wiki/Carcinoid]
subset: DO_cancer_slim
is_a: DOID:10154 ! small intestine cancer
created_by: lschriml
creation_date: 2014-10-21T12:58:08Z

[Term]
id: DOID:0050926
name: jejunal adenocarcinoma
def: "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]
subset: DO_cancer_slim
is_a: DOID:13499 ! jejunal cancer
created_by: lschriml
creation_date: 2014-10-21T13:00:15Z

[Term]
id: DOID:0050927
name: duodenum adenoma
def: "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma]
is_a: DOID:1737 ! duodenal benign neoplasm
created_by: lschriml
creation_date: 2014-10-21T13:02:15Z

[Term]
id: DOID:0050928
name: ovarian melanoma
def: "An ovarian cancer that has_material_basis_in melanoctyes." [url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/, url:http\://www.ncbi.nlm.nih.gov/pubmed/15166669]
subset: DO_cancer_slim
is_a: DOID:2394 ! ovarian cancer
created_by: lschriml
creation_date: 2014-10-21T13:27:44Z

[Term]
id: DOID:0050929
name: mucosal melanoma
def: "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic]
subset: DO_cancer_slim
is_a: DOID:1909 ! melanoma
created_by: lschriml
creation_date: 2014-10-21T13:51:49Z

[Term]
id: DOID:0050930
name: sublingual gland adenoid cystic carcinoma
def: "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma]
subset: DO_cancer_slim
is_a: DOID:8849 ! sublingual gland cancer
created_by: lschriml
creation_date: 2014-10-21T14:04:40Z

[Term]
id: DOID:0050931
name: parotid gland adenoid cystic carcinoma
def: "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:http\://en.wikipedia.org/wiki/Parotid_gland]
subset: DO_cancer_slim
is_a: DOID:9036 ! parotid gland cancer
created_by: lschriml
creation_date: 2014-10-21T14:09:29Z

[Term]
id: DOID:0050932
name: lung mucoepidermoid carcinoma
def: "A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma]
subset: DO_cancer_slim
is_a: DOID:3905 ! lung carcinoma
created_by: lschriml
creation_date: 2014-10-21T15:13:36Z

[Term]
id: DOID:0050933
name: ovarian serous carcinoma
def: "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid." [url:http\://en.wikipedia.org/wiki/Serous_carcinoma]
subset: DO_cancer_slim
is_a: DOID:4001 ! ovarian carcinoma
created_by: lschriml
creation_date: 2014-10-21T15:51:41Z

[Term]
id: DOID:0050934
name: ovarian clear cell carcinoma
def: "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells." [url:http\://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma]
subset: DO_cancer_slim
synonym: "clear-cell ovarian carcinoma" EXACT []
is_a: DOID:4001 ! ovarian carcinoma
created_by: lschriml
creation_date: 2014-10-21T15:54:52Z

[Term]
id: DOID:0050935
name: cervical neuroblastoma
def: "An extracranial neuroblastoma that has_material_basis_in immature nerve cells." [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://link.springer.com/article/10.1007%2Fs12070-007-0083-5, url:http\://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487, url:http\://www.ncbi.nlm.nih.gov/pubmed/15390353, url:http\://www.ncbi.nlm.nih.gov/pubmed/9262064]
subset: DO_cancer_slim
is_a: DOID:371 ! extracranial neuroblastoma
created_by: lschriml
creation_date: 2014-10-21T16:02:01Z

[Term]
id: DOID:0050936
name: extra-adrenal pheochromocytoma
def: "An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin." [url:http\://en.wikipedia.org/wiki/Pheochromocytoma]
subset: DO_cancer_slim
is_a: DOID:5719 ! adrenal medulla cancer
created_by: lschriml
creation_date: 2014-10-22T10:25:45Z

[Term]
id: DOID:0050937
name: retroperitoneal neuroblastoma
def: "A retroperitoneal cancer that has_material_basis_in immature nerve cells." [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://en.wiktionary.org/wiki/retroperitoneal]
subset: DO_cancer_slim
is_a: DOID:5875 ! retroperitoneal cancer
created_by: lschriml
creation_date: 2014-10-22T11:18:01Z

[Term]
id: DOID:0050938
name: breast lobular carcinoma
def: "A breast carcinoma that derives_from breast lobules (milk glands)." [url:http\://cancergenome.nih.gov/cancersselected/breastlobular, url:http\://www.cancer.gov/dictionary?CdrID=426416]
subset: DO_cancer_slim
is_a: DOID:3459 ! breast carcinoma
created_by: lschriml
creation_date: 2014-10-22T13:05:34Z

[Term]
id: DOID:0050939
name: uterine corpus endometrial carcinoma
def: "A uterine corpus cancer that is derived_from the inner lining of the uterus." [url:http\://cancergenome.nih.gov/cancersselected/endometrial]
subset: DO_cancer_slim
is_a: DOID:9460 ! uterine corpus cancer
created_by: lschriml
creation_date: 2014-10-22T14:26:22Z

[Term]
id: DOID:0050940
name: endocervical adenocarcinoma
def: "An endocervical carcinoma that derives_from epithelial cells of glandular origin." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12207781]
subset: DO_cancer_slim
is_a: DOID:7519 ! endocervical carcinoma
created_by: lschriml
creation_date: 2014-10-24T15:51:48Z

[Term]
id: DOID:0060000
name: infective endocarditis
def: "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents." [url:http\://en.wikipedia.org/wiki/Infective_endocarditis, url:http\://wn.wikipedia.org/wiki/Endocarditis]
is_a: DOID:10314 ! endocarditis

[Term]
id: DOID:0060001
name: withdrawal disorder
def: "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol." [url:http\://en.wikipedia.org/wiki/Withdrawal]
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:0060002
name: C1 inhibitor deficiency
def: "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue." [ls:IEDB, url:http\://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease]
synonym: "Quincke edema" EXACT []
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060004
name: autoimmune disease of central nervous system
def: "An autoimmune disease of the central nervous system." [ls:IEDB]
is_a: DOID:438 ! autoimmune disease of the nervous system

[Term]
id: DOID:0060005
name: autoimmune disease of endocrine system
def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060006
name: artemis deficiency
def: "A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA." [url:http\://en.wikipedia.org/wiki/DCLRE1C]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060007
name: CD3zeta deficiency
def: "A severe combined immunodeficiency that affects the development and function of T cells." [url:http\://bioinf.uta.fi/CD247base/]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060008
name: janus kinase-3 deficiency
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060009
name: MHC class I deficiency
comment: OMIM mapping confirmed by DO. [SN].
synonym: "bare lymphocyte syndrome type I" EXACT []
synonym: "BLS, TYPE I" EXACT []
synonym: "BLSI" EXACT []
synonym: "HLA CLASS I DEFICIENCY" EXACT []
xref: OMIM:604571
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060010
name: Omenn syndrome
def: "A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency]
is_a: DOID:628 ! combined T cell and B cell immunodeficiency

[Term]
id: DOID:0060011
name: recombinase activating gene 1 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [url:http\://bioinf.uta.fi/RAG1base/, url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060012
name: recombinase activating gene 2 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [url:http\://bioinf.uta.fi/RAG2base/, url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060013
name: gamma chain deficiency
alt_id: DOID:5811
def: "A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency]
comment: OMIM mapping confirmed by DO. [LS].
synonym: "SCID-X1" EXACT []
synonym: "thymic epithelial hypoplasia" EXACT []
synonym: "X-Linked Severe Combined Immunodeficiency" EXACT [NCI2004_11_17:C4682]
synonym: "XSCID" EXACT []
xref: MSH:D053632
xref: OMIM:300400
xref: SNOMEDCT_2010_1_31:203592006
xref: SNOMEDCT_2010_1_31:234569003
xref: UMLS_CUI:C1279481
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060014
name: CD45 deficiency
def: "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age." [url:http\://bioinf.uta.fi/xml/idr/ff/FF6.xml]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060015
name: interleukin-7 receptor alpha deficiency
def: "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." [url:http\://bioinf.uta.fi/IL7Rbase/]
synonym: "IL-7R" EXACT []
synonym: "IL7R" RELATED []
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060016
name: CD3delta deficiency
def: "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development." [url:http\://bioinf.uta.fi/CD3Dbase/]
synonym: "CD3D" EXACT []
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060017
name: CD3epsilon deficiency
def: "A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex." [url:http\://bioinf.uta.fi/CD3Ebase/]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060018
name: CD3gamma deficiency
def: "A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected." [url:http\://bioinf.uta.fi/CD3Gbase/]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060019
name: coronin-1A deficiency
def: "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed]
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060020
name: reticular dysgenesis
alt_id: DOID:1226
def: "A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/gene/204?]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "aleukocytosis" RELATED []
synonym: "De Vaal disease" EXACT []
xref: MSH:C538361
xref: NCI:C27070
xref: OMIM:267500
xref: SNOMEDCT_2010_1_31:111584000
xref: UMLS_CUI:C0272167
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060021
name: DNA ligase IV deficiency
def: "A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay." [url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606593, url\]:http\://www.ncbi.nlm.nih.gov/gene/3981?]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "LIG4 Syndrome" EXACT []
xref: OMIM:606593
is_a: DOID:628 ! combined T cell and B cell immunodeficiency

[Term]
id: DOID:0060022
name: CD40 ligand deficiency
def: "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE." [url:http\://bioinf.uta.fi/CD40Lbase/, url:http\://content.karger.com/ProdukteDB/produkte.asp?Doi=236923]
synonym: "HIGMX-1" EXACT []
synonym: "X-linked hyper-IgM syndrome" EXACT []
is_a: DOID:628 ! combined T cell and B cell immunodeficiency

[Term]
id: DOID:0060023
name: CD40 deficiency
def: "A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation." [url:http\://bioinf.uta.fi/CD40base/]
synonym: "type 3 hyper-IgM immunodeficiency " EXACT []
is_a: DOID:628 ! combined T cell and B cell immunodeficiency

[Term]
id: DOID:0060024
name: lambda 5 deficiency
def: "A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage." [url:http\://bioinf.uta.fi/IGLL1base/, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770, url:http\://www.ncbi.nlm.nih.gov/gene/3543?]
is_a: DOID:2115 ! B cell deficiency

[Term]
id: DOID:0060025
name: immunoglobulin alpha deficiency
def: "A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor." [url:http\://bioinf.uta.fi/CD79Abase/, url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205, url:http\://www.ncbi.nlm.nih.gov/gene/973?]
comment: Xref MGI.
synonym: "gamma-A-globulin deficiency" EXACT []
synonym: "IgA deficiency" EXACT []
xref: ICD10CM:D80.2
xref: ICD9CM:279.01
xref: MSH:D017098
xref: OMIM:137100
xref: OMIM:269650
xref: OMIM:609529
xref: ORDO:69127
is_a: DOID:2115 ! B cell deficiency

[Term]
id: DOID:0060026
name: immunoglobulin beta deficiency
synonym: "IgB deficiency" RELATED []
is_a: DOID:2115 ! B cell deficiency

[Term]
id: DOID:0060027
name: B cell linker protein deficiency
def: "A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation." [url:http\://bioinf.uta.fi/BLNKbase/, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515, url:http\://www.ncbi.nlm.nih.gov/gene/2]
synonym: "B-cell linker protein deficiency" EXACT []
synonym: "BLNK deficiency" EXACT []
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:0060028
name: Good syndrome
def: "An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma." [url:http\://en.wikipedia.org/wiki/Good_syndrome, url:http\://icvts.ctsnetjournals.org/cgi/reprint/9/4/750]
synonym: "thymoma with hypogammaglobulinemia" EXACT []
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:0060029
name: autoimmune disease of exocrine system
def: "An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060030
name: autoimmune disease of eyes, ear, nose and throat
def: "A hypersensitivity reaction type II disease of the eyes, ears, nose and throat." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060031
name: autoimmune disease of gastrointestinal tract
def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060032
name: autoimmune disease of musculoskeletal system
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060033
name: autoimmune disease of peripheral nervous system
def: "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system." [ls:IEDB]
is_a: DOID:438 ! autoimmune disease of the nervous system

[Term]
id: DOID:0060035
name: medical disorder
def: "A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [url:http\://en.wikipedia.org/wiki/Diseases#Disorder, url:http\://www.medilexicon.com/medicaldictionary.php?t=25959]
is_obsolete: true

[Term]
id: DOID:0060036
name: intrinsic cardiomyopathy
def: "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause." [url:http\://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html]
is_a: DOID:0050700 ! cardiomyopathy

[Term]
id: DOID:0060037
name: developmental disorder of mental health
def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." [url:http\://en.wikipedia.org/wiki/Developmental_disorders]
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:0060038
name: specific developmental disorder
def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [url:http\://en.wikipedia.org/wiki/Specific_developmental_disorder]
is_a: DOID:0060037 ! developmental disorder of mental health

[Term]
id: DOID:0060039
name: autoimmune disease of skin and connective tissue
def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060040
name: pervasive developmental disorder
alt_id: DOID:1208
def: "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors." [url:http\://www.ninds.nih.gov/disorders/pdd/pdd.htm]
synonym: "pervasive development disorder" EXACT []
xref: ICD9CM:299.80
xref: UMLS_CUI:C0154451
is_a: DOID:0060037 ! developmental disorder of mental health

[Term]
id: DOID:0060041
name: autism spectrum disorder
def: "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." [url:http\://en.wikipedia.org/wiki/Autism_spectrum_disorder, url:www.neurodevnet.ca]
is_a: DOID:0060040 ! pervasive developmental disorder

[Term]
id: DOID:0060042
name: atypical autism
def: "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." [url:http\://counsellingresource.com/distress/autistic/autism-atypical.html, url:http\://www.wisegeek.com/what-is-atypical-autism.htm, url:www.neurodevnet.ca]
synonym: "PDD NOS" EXACT []
is_a: DOID:0060041 ! autism spectrum disorder

[Term]
id: DOID:0060043
name: sexual disorder
def: "A disease of mental health that involves the impairment in normal sexual functioning." [url:http\://allpsych.com/disorders/sexual/index.html]
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:0060044
name: paraphilia disorder
is_a: DOID:0060043 ! sexual disorder

[Term]
id: DOID:0060045
name: Munchausen by proxy
def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." [url:http\://en.wikipedia.org/wiki/Munchausen_by_proxy]
is_a: DOID:1766 ! factitious disorder

[Term]
id: DOID:0060046
name: aphasia
def: "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." [url:http\://en.wikipedia.org/wiki/Aphasia]
is_a: DOID:93 ! language disorder

[Term]
id: DOID:0060047
name: writing disorder
def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities]
is_a: DOID:8927 ! learning disability

[Term]
id: DOID:0060048
name: nosophobia
def: "A specific phobia that involves an irrational fear of contracting a disease." [url:http\://en.wikipedia.org/wiki/Nosophobia]
is_a: DOID:599 ! specific phobia

[Term]
id: DOID:0060049
name: autoimmune disease of urogenital tract
def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060050
name: autoimmune disease of blood
def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060051
name: autoimmune disease of cardiovascular system
def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system." [ls:IEDB]
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:0060052
name: neurological disorder
def: "A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness." [ls:IEDB]
is_obsolete: true

[Term]
id: DOID:0060053
name: peripheral neuropathy
def: "A neuropathy that is located_in nerves of the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Sensory_neuropathy]
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:0060054
name: autonomic peripheral neuropathy
is_a: DOID:0060053 ! peripheral neuropathy

[Term]
id: DOID:0060055
name: <new term>
is_obsolete: true

[Term]
id: DOID:0060056
name: hypersensitivity reaction disease
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:0060057
name: gluten allergic reaction
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:0060058
name: lymphoma
alt_id: DOID:1033
alt_id: DOID:353
def: "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs." [url:http\://en.wikipedia.org/wiki/Lymphoma, url:http\://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161, url:http\://www.nlm.nih.gov/medlineplus/lymphoma.html]
subset: DO_cancer_slim
synonym: "lymphoid cancer" EXACT []
xref: MSH:D008223
xref: NCI:C3208
xref: SNOMEDCT_2010_1_31:118600007
xref: SNOMEDCT_2010_1_31:188676008
xref: SNOMEDCT_2010_1_31:188694002
xref: SNOMEDCT_2010_1_31:188695001
xref: SNOMEDCT_2010_1_31:188704004
xref: SNOMEDCT_2010_1_31:189959002
xref: SNOMEDCT_2010_1_31:189965002
xref: SNOMEDCT_2010_1_31:21964009
xref: SNOMEDCT_2010_1_31:269627002
xref: SNOMEDCT_2010_1_31:414628006
xref: UMLS_CUI:C0024299
xref: UMLS_CUI:C0598798
is_a: DOID:2531 ! hematologic cancer

[Term]
id: DOID:0060060
name: non-Hodgkin lymphoma
def: "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma." [url:http\://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45148]
comment: OMIM mapping confirmed by DO. [LS].
xref: OMIM:605027
is_a: DOID:0060058 ! lymphoma

[Term]
id: DOID:0060061
name: cutaneous T cell lymphoma
def: "A non-Hodgkin's lymphoma that is caused by a mutation of T cells." [url:http\://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma]
is_a: DOID:0050749 ! peripheral T-cell lymphoma

[Term]
id: DOID:0060062
name: familial juvenile hyperuricemic nephropathy
def: "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21060763]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS].
xref: OMIM:162000
xref: OMIM:613092
xref: OMIM:614227
xref: ORDO:209886
xref: ORDO:217330
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:0060063
name: X-linked sideroblastic anemia
comment: OMIM mapping confirmed by DO. [LS].
synonym: "XLSA" EXACT []
xref: OMIM:300751
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060064
name: sideroblastic anemia with spinocerebellar ataxia
comment: OMIM mapping confirmed by DO. [LS].
synonym: "ASAT" EXACT []
xref: OMIM:310310
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060065
name: pyridoxine-refractory autosomal recessive sideroblastic anemia
comment: OMIM mapping confirmed by DO. [LS].
xref: OMIM:205950
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060066
name: pyridoxine-responsive sideroblastic anemia
comment: OMIM mapping confirmed by DO. [LS].
xref: OMIM:206000
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060067
name: Pearson syndrome
def: "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction." [url:http\://en.wikipedia.org/wiki/Pearson_syndrome]
comment: OMIM mapping confirmed by DO. [LS].
synonym: "Pearson Marrow-Pancreas Syndrome" EXACT []
xref: OMIM:557000
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0060068
name: marantic endocarditis
def: "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets." [url:http\://en.wikipedia.org/wiki/Marantic_endocarditis]
synonym: "non-bacterial thrombotic endocarditis" EXACT []
is_a: DOID:10314 ! endocarditis
created_by: lschriml
creation_date: 2011-04-13T03:14:26Z

[Term]
id: DOID:0060069
name: Bacillus cereus pneumonia
is_obsolete: true
created_by: lschriml
creation_date: 2011-04-15T11:41:26Z

[Term]
id: DOID:0060071
name: pre-malignant neoplasm
def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." [url:http\://en.wikipedia.org/wiki/Neoplasm]
is_a: DOID:14566 ! disease of cellular proliferation
created_by: lschriml
creation_date: 2011-05-11T12:18:41Z

[Term]
id: DOID:0060072
name: benign neoplasm
def: "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize." [url:http\://en.wikipedia.org/wiki/Benign_neoplasm, url:http\://www.nlm.nih.gov/medlineplus/benigntumors.html]
is_a: DOID:14566 ! disease of cellular proliferation
created_by: lschriml
creation_date: 2011-05-11T12:18:41Z

[Term]
id: DOID:0060073
name: lymphatic system cancer
def: "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue." [url:http\://en.wikipedia.org/wiki/Lymphatic_system]
is_a: DOID:0060083 ! immune system cancer
created_by: lschriml
creation_date: 2011-05-11T01:05:14Z

[Term]
id: DOID:0060074
name: ductal carcinoma in situ
is_a: DOID:8791 ! breast carcinoma in situ
created_by: lschriml
creation_date: 2011-06-08T12:19:28Z

[Term]
id: DOID:0060075
name: estrogen-receptor positive breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060076
name: estrogen-receptor negative breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060077
name: progesterone-receptor positive breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060078
name: progesterone-receptor negative breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060079
name: Her2-receptor positive breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060080
name: Her2-receptor negative breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060081
name: triple-receptor negative breast cancer
is_a: DOID:1612 ! breast cancer
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z

[Term]
id: DOID:0060082
name: breast benign neoplasm
is_a: DOID:0060097 ! thoracic benign neoplasm
created_by: lschriml
creation_date: 2011-06-08T01:02:29Z

[Term]
id: DOID:0060083
name: immune system cancer
def: "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system." [url:http\://en.wikipedia.org/wiki/Immune_system]
is_a: DOID:0050686 ! organ system cancer
created_by: lschriml
creation_date: 2011-06-08T01:11:18Z

[Term]
id: DOID:0060084
name: cell type benign neoplasm
def: "A benign neoplasm that is classified by the type of cell or tissue from which it is derived." [url:http\://en.wikipedia.org/wiki/Benign_tumor]
is_a: DOID:0060072 ! benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T11:59:48Z

[Term]
id: DOID:0060085
name: organ system benign neoplasm
def: "A benign neoplasm that is classified by the organ system from which it is arising from." [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367]
is_a: DOID:0060072 ! benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T12:12:23Z

[Term]
id: DOID:0060086
name: female reproductive organ benign neoplasm
is_a: DOID:0050622 ! reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T12:20:52Z

[Term]
id: DOID:0060087
name: male reproductive organ benign neoplasm
is_a: DOID:0050622 ! reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T12:20:52Z

[Term]
id: DOID:0060088
name: vestibular gland benign neoplasm
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T12:36:54Z

[Term]
id: DOID:0060089
name: endocrine organ benign neoplasm
def: "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." [url:http\://en.wikipedia.org/wiki/Endocrine_system]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z

[Term]
id: DOID:0060090
name: central nervous system organ benign neoplasm
is_a: DOID:0060115 ! nervous system benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z

[Term]
id: DOID:0060091
name: cardiovascular organ benign neoplasm
def: "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system." [url:http\://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z

[Term]
id: DOID:0060092
name: immune system organ benign neoplasm
def: "An organ system benign neoplasm located_in the immune system organs." [url:http\://en.wikipedia.org/wiki/Immune_system]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T01:58:49Z

[Term]
id: DOID:0060094
name: bone benign neoplasm
def: "A connective tissue benign neoplasm that is located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_tumor]
is_a: DOID:0060123 ! connective tissue benign neoplasm
created_by: lschriml
creation_date: 2011-07-15T01:34:59Z

[Term]
id: DOID:0060095
name: uterine benign neoplasm
alt_id: DOID:0060113
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-15T01:42:11Z

[Term]
id: DOID:0060096
name: sensory organ benign neoplasm
def: "A nervous system benign neoplasm that is located_in a sensory organ." [url:http\://en.wikipedia.org/wiki/Sensory_system]
is_a: DOID:0060115 ! nervous system benign neoplasm
created_by: lschriml
creation_date: 2011-07-15T01:45:26Z

[Term]
id: DOID:0060097
name: thoracic benign neoplasm
def: "An organ system benign neoplam that is located_in the thoracic cavity." [url:http\://en.wikipedia.org/wiki/Thoracic_cavity]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-15T01:55:57Z

[Term]
id: DOID:0060098
name: osteoblastoma
is_a: DOID:0060094 ! bone benign neoplasm
created_by: lschriml
creation_date: 2011-07-15T02:14:40Z

[Term]
id: DOID:0060099
name: musculoskeletal system benign neoplasm
def: "An organ system benign neoplasm that is located_in the muscular and skeletal organs." [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-15T02:28:52Z

[Term]
id: DOID:0060100
name: musculoskeletal system cancer
alt_id: DOID:0060124
def: "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs." [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders]
synonym: "skeletal system cancer" EXACT []
is_a: DOID:0050686 ! organ system cancer
created_by: lschriml
creation_date: 2011-07-15T02:30:51Z

[Term]
id: DOID:0060101
name: benign glioma
def: "A cell type benign neoplasm that has_material_basis_in glial cells." [url:http\://www.cancer.gov/dictionary?CdrID=45700]
is_a: DOID:0060084 ! cell type benign neoplasm
created_by: lschriml
creation_date: 2011-07-19T01:27:04Z

[Term]
id: DOID:0060102
name: cartilage cancer
is_a: DOID:201 ! connective tissue cancer
created_by: lschriml
creation_date: 2011-07-20T01:40:49Z

[Term]
id: DOID:0060103
name: central nervous system primitive neuroectodermal neoplasm
is_a: DOID:3620 ! central nervous system cancer
created_by: lschriml
creation_date: 2011-07-21T02:24:10Z

[Term]
id: DOID:0060104
name: cerebellar medulloblastoma
def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma]
subset: DO_cancer_slim
is_a: DOID:4205 ! cerebellum cancer
created_by: lschriml
creation_date: 2011-07-21T02:28:01Z

[Term]
id: DOID:0060105
name: brain medulloblastoma
def: "A brain cancer that is located_in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780]
subset: DO_cancer_slim
is_a: DOID:1319 ! brain cancer
created_by: lschriml
creation_date: 2011-07-21T02:29:40Z

[Term]
id: DOID:0060106
name: brain meningioma
is_a: DOID:1319 ! brain cancer
created_by: lschriml
creation_date: 2011-07-21T05:39:28Z

[Term]
id: DOID:0060108
name: brain glioma
def: "A brain cancer that has_material_basis_in glial cells." [url:http\://cancergenome.nih.gov/cancersselected/lowergradeglioma, url:http\://www.cancer.gov/dictionary?CdrID=45700]
subset: DO_cancer_slim
synonym: "lower grade glioma" EXACT []
is_a: DOID:1319 ! brain cancer
created_by: lschriml
creation_date: 2011-07-22T12:42:50Z

[Term]
id: DOID:0060109
name: vulvar benign neoplasm
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z

[Term]
id: DOID:0060110
name: cervical benign neoplasm
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z

[Term]
id: DOID:0060111
name: fallopian tube benign neoplasm
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z

[Term]
id: DOID:0060112
name: ovarian benign neoplasm
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z

[Term]
id: DOID:0060114
name: vaginal benign neoplasm
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z

[Term]
id: DOID:0060115
name: nervous system benign neoplasm
def: "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Nervous_system]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T12:47:43Z

[Term]
id: DOID:0060116
name: sensory system cancer
def: "A nervous system cancer that is located_in the sensory system." [url:http\://en.wikipedia.org/wiki/Sensory_system]
is_a: DOID:3093 ! nervous system cancer
created_by: lschriml
creation_date: 2011-07-25T01:51:56Z

[Term]
id: DOID:0060117
name: peritoneal benign neoplasm
def: "An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom." [url:http\://en.wikipedia.org/wiki/Peritoneal]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-25T02:20:33Z

[Term]
id: DOID:0060118
name: thoracic disease
def: "A disease of anatomical entity that is located_in the thoracic cavity." [url:http\://en.wikipedia.org/wiki/Thoracic_cavity]
is_a: DOID:7 ! disease of anatomical entity
created_by: lschriml
creation_date: 2011-07-25T02:23:47Z

[Term]
id: DOID:0060119
name: pharynx cancer
def: "A gastrointestinal system cancer that is located_in the pharyx." [url:http\://en.wikipedia.org/wiki/Pharynx]
subset: TopNodes_DOcancerslim
is_a: DOID:3119 ! gastrointestinal system cancer
created_by: lschriml
creation_date: 2011-07-27T01:26:34Z

[Term]
id: DOID:0060120
name: skeletal system benign neoplasm
is_obsolete: true
created_by: lschriml
creation_date: 2011-07-27T01:46:00Z

[Term]
id: DOID:0060121
name: integumentary system benign neoplasm
def: "An organ system benign neoplasm located_in the integumentary system organs." [url:http\://en.wikipedia.org/wiki/Integumentary_system]
is_a: DOID:0060085 ! organ system benign neoplasm
created_by: lschriml
creation_date: 2011-07-27T01:49:44Z

[Term]
id: DOID:0060122
name: integumentary system cancer
def: "An organ system cancer that is located_in the skin, hair and nails." [url:http\://en.wikipedia.org/wiki/Integumentary_system]
is_a: DOID:0050686 ! organ system cancer
created_by: lschriml
creation_date: 2011-07-27T02:31:34Z

[Term]
id: DOID:0060123
name: connective tissue benign neoplasm
alt_id: DOID:177
def: "A musculoskeletal system benign neoplasm that is located_in connective tissue." [url:http\://en.wikipedia.org/wiki/Connective_tissue_neoplasm]
synonym: "neoplasm of soft tissue (disorder)" EXACT [SNOMEDCT_2005_07_31:387837005]
synonym: "neoplasm of soft tissues (disorder)" EXACT [SNOMEDCT_2005_07_31:126600002]
synonym: "soft tissue benign neoplasm" EXACT []
synonym: "tumor of the soft tissue" EXACT [NCI2004_11_17:C3377]
xref: MSH:D012983
xref: NCI:C3377
xref: SNOMEDCT_2010_1_31:126600002
xref: SNOMEDCT_2010_1_31:387837005
xref: UMLS_CUI:C0037579
is_a: DOID:0060099 ! musculoskeletal system benign neoplasm
created_by: lschriml
creation_date: 2011-07-27T02:35:57Z

[Term]
id: DOID:0060125
name: heavy chain disease
def: "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease]
xref: MSH:D006362
is_a: DOID:2916 ! hypersensitivity reaction type IV disease
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z

[Term]
id: DOID:0060126
name: alpha chain disease
def: "A heavy chain disease that results from an overproduction of alpha antibodies (IgA)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease]
synonym: "Seligmann's disease" EXACT []
is_a: DOID:0060125 ! heavy chain disease
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z

[Term]
id: DOID:0060127
name: gamma heavy chain disease
def: "A heavy chain disease that results from an overproduction of gamma antibody (IgG)." [url:http\://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx]
synonym: "Franklin's disease" EXACT []
is_a: DOID:0060125 ! heavy chain disease
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z

[Term]
id: DOID:0060128
name: mu chain disease
def: "A heavy chain disease that results from an overproduction of mu antibody (IgM)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease]
is_a: DOID:0060125 ! heavy chain disease
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z

[Term]
id: DOID:0060129
name: delta chain disease
def: "A heavy chain disease that results from an overproduction of delta antibody (IgD)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease]
is_a: DOID:0060125 ! heavy chain disease
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z

[Term]
id: DOID:0060130
name: akinetopsia
def: "An agnosia that is a loss of motion perception." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060131
name: alexithymia
def: "An agnosia that is a deficiency in understanding, processing, or describing emotions." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060132
name: amusia
def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." [url:http\://en.wikipedia.org/wiki/Agnosia]
synonym: "receptive amusia" EXACT []
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060133
name: anosognosia
def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060134
name: apperceptive agnosia
def: "An agnosia that is a loss of the ability to distinguish visual shapes." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060135
name: apraxia
def: "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060136
name: associative agnosia
def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060137
name: auditory agnosia
def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060138
name: autotopagnosia
def: "An agnosia that is a loss of the ability to orient parts of the body." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060139
name: color agnosia
def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060140
name: cortical deafness
def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060141
name: finger agnosia
def: "An agnosia that is a loss of the ability to distinguish the fingers on the hand." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060142
name: form agnosia
def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060143
name: integrative agnosia
def: "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060144
name: mirror agnosia
def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060145
name: pain agnosia
def: "An agnosia that is a loss of the ability to perceive and process pain." [url:http\://en.wikipedia.org/wiki/Agnosia]
synonym: "analgesia" EXACT []
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060146
name: phonagnosia
def: "An agnosia that is a loss of the ability to recognize familiar voices." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060147
name: semantic agnosia
def: "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060148
name: simultanagnosia
def: "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060149
name: social emotional agnosia
def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." [url:http\://en.wikipedia.org/wiki/Agnosia]
synonym: "expressive agnosia" EXACT []
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060150
name: astereognosia
def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." [url:http\://en.wikipedia.org/wiki/Agnosia]
synonym: "somatosensory agnosia" EXACT []
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060151
name: tactile agnosia
def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060152
name: time agnosia
def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060153
name: topographical agnosia
def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:0060155 ! visual agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060154
name: verbal auditory agnosia
def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060155
name: visual agnosia
def: "An agnosia that is a loss of the ability to visually recognize objects." [url:http\://en.wikipedia.org/wiki/Agnosia]
xref: MSH:C531604
is_a: DOID:4090 ! agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060156
name: visual verbal agnosia
def: "An agnosia that is a loss of the ability to comprehending the meaning of written words." [url:http\://en.wikipedia.org/wiki/Agnosia]
is_a: DOID:0060155 ! visual agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z

[Term]
id: DOID:0060157
name: diffuse alopecia areata
def: "An alopecia areata that involves diffuse loss of hair over the whole scalp." [url:http\://en.wikipedia.org/wiki/Alopecia_areata]
xref: MSH:C531609
is_a: DOID:986 ! alopecia areata
created_by: lschriml
creation_date: 2011-08-22T03:45:02Z

[Term]
id: DOID:0060158
name: acquired metabolic disease
def: "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659]
is_a: DOID:0014667 ! disease of metabolism
created_by: lschriml
creation_date: 2011-08-24T02:53:03Z

[Term]
id: DOID:0060159
name: organic acidemia
def: "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids." [url:http\://en.wikipedia.org/wiki/Aciduria]
synonym: "organic acid metabolism disorder" EXACT []
synonym: "organic aciduria" EXACT []
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2011-08-26T11:17:14Z

[Term]
id: DOID:0060160
name: survival motor neuron spinal muscular atrophy
def: "A spinal muscular atrophy that is associated with the survival of motor neuron protein." [url:http\://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy]
synonym: "spinal muscular atrophies of childhood" EXACT []
xref: MSH:D014897
is_a: DOID:12377 ! spinal muscular atrophy
created_by: lschriml
creation_date: 2011-08-29T01:15:14Z

[Term]
id: DOID:0060161
name: Kennedy's disease
def: "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor." [url:http\://en.wikipedia.org/wiki/Kennedy_disease]
synonym: "Kennedy disease" EXACT []
synonym: "SBMA" EXACT []
synonym: "spinal bulbar muscular atrophy" EXACT []
synonym: "Spinobulbar Muscular Atrophy" EXACT []
synonym: "X-Linked Bulbo-Spinal Atrophy" EXACT []
synonym: "X-linked Spinal and Bulbar Muscular Atrophy" EXACT []
xref: MSH:D055534
xref: OMIM:313200
is_a: DOID:12377 ! spinal muscular atrophy
created_by: lschriml
creation_date: 2011-08-29T01:31:03Z

[Term]
id: DOID:0060162
name: dentatorubral-pallidoluysian atrophy
def: "A spinocerebellar degeneration that has_material_basis_in expansion of  CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein." [url:http\://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy]
synonym: "DRPLA" EXACT []
synonym: "Haw River Syndrome" EXACT []
synonym: "Naito-Oyanagi disease" EXACT []
xref: MSH:D020191
xref: OMIM:125370
is_a: DOID:2478 ! spinocerebellar degeneration
created_by: lschriml
creation_date: 2011-08-29T01:41:48Z

[Term]
id: DOID:0060163
name: body dysmorphic disorder
def: "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)." [url:http\://en.wikipedia.org/wiki/Body_dysmorphic_disorder]
synonym: "body dysmorphia" EXACT []
synonym: "dysmorphic syndrome" EXACT []
synonym: "dysmorphophobia" EXACT []
is_a: DOID:4737 ! somatoform disorder
created_by: lschriml
creation_date: 2011-09-07T01:38:34Z

[Term]
id: DOID:0060164
name: pain disorder
def: "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress." [url:http\://en.wikipedia.org/wiki/Pain_disorder]
is_a: DOID:4737 ! somatoform disorder
created_by: lschriml
creation_date: 2011-09-07T01:42:46Z

[Term]
id: DOID:0060165
name: Kleine-Levin syndrome
def: "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior." [url:http\://en.wikipedia.org/wiki/Kleine-Levin_syndrome]
is_a: DOID:8619 ! recurrent hypersomnia
created_by: lschriml
creation_date: 2011-09-07T02:46:02Z

[Term]
id: DOID:0060166
name: bipolar ll disorder
def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [url:http\://en.wikipedia.org/wiki/Bipolar_II]
is_a: DOID:3312 ! bipolar disorder
created_by: lschriml
creation_date: 2011-09-09T02:27:46Z

[Term]
id: DOID:0060167
name: seasonal affective disorder
def: "A mental depression that involves presentation of depressive symptoms only during a specific season of the year." [url:http\://en.wikipedia.org/wiki/Seasonal_affective_disorder]
synonym: "winter depression" EXACT []
is_a: DOID:1596 ! mental depression
created_by: lschriml
creation_date: 2011-09-09T02:53:18Z

[Term]
id: DOID:0060168
name: histidinemia
def: "A histidine metabolism disease that involves a deficiency of the enzyme histidase." [url:http\://en.wikipedia.org/wiki/Histidinemia]
synonym: "histidinuria" EXACT []
is_a: DOID:9265 ! histidine metabolism disease
created_by: lschriml
creation_date: 2011-09-20T12:47:05Z

[Term]
id: DOID:0060169
name: benign familial infantile epilepsy
def: "An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12503648]
comment: Xref MGI.
synonym: "benign familial infantile convulsion" EXACT []
synonym: "benign familial infantile seizures" EXACT []
synonym: "BFIC" EXACT []
synonym: "BFIE " EXACT []
xref: OMIM:601764
xref: OMIM:605751
xref: OMIM:607745
xref: OMIM:612627
xref: ORDO:306
is_a: DOID:0050703 ! infancy electroclinical syndrome
created_by: lschriml
creation_date: 2011-10-28T02:55:02Z

[Term]
id: DOID:0060170
name: generalized epilepsy with febrile seizures plus
def: "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22011963]
comment: Xref MGI.
synonym: "GEFS+" EXACT []
xref: ICD10CM:G40.3
xref: OMIM:604233
xref: OMIM:604403
xref: OMIM:609800
xref: OMIM:611277
xref: OMIM:612279
xref: OMIM:613828
xref: OMIM:613863
xref: ORDO:36387
is_a: DOID:1827 ! idiopathic generalized epilepsy
created_by: lschriml
creation_date: 2011-10-28T02:57:50Z

[Term]
id: DOID:0060171
name: Dravet Syndrome
def: "An epilepsy that is characterized by frequent febrile seizures with onset before 1 year." [url:http\://dravet.org/about-dravet/smei, url:http\://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm]
synonym: "severe myoclonic epilepsy in infancy" EXACT []
synonym: "SMEI" EXACT []
xref: OMIM:607208
is_a: DOID:0050703 ! infancy electroclinical syndrome
created_by: lschriml
creation_date: 2011-10-28T03:14:46Z

[Term]
id: DOID:0060172
name: juvenile absence epilepsy
def: "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures." [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org]
is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome
created_by: lschriml
creation_date: 2011-11-08T10:42:18Z

[Term]
id: DOID:0060173
name: Timothy syndrome
def: "An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1403/]
is_a: DOID:0050736 ! autosomal dominant disease
created_by: lschriml
creation_date: 2011-11-08T12:52:33Z

[Term]
id: DOID:0060174
name: GABA aminotransferase deficiency
def: "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde." [url:http\://pathman.smpdb.ca/pathways/SMP00351/pathway, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf]
synonym: "Gamma-amino butyric acid transaminase deficiency" EXACT []
synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT []
xref: OMIM:613163
is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder
created_by: lschriml
creation_date: 2011-11-08T01:52:22Z

[Term]
id: DOID:0060175
name: succinic semialdehyde dehydrogenase deficiency
def: "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid." [url:http\://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism]
synonym: "4-hydroxybutyric aciduria" EXACT []
synonym: "gamma-hydroxybutyric aciduria" EXACT []
synonym: "SSADH" EXACT []
is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder
created_by: lschriml
creation_date: 2011-11-08T02:02:12Z

[Term]
id: DOID:0060176
name: gamma-amino butyric acid metabolism disorder
def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12891648]
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: lschriml
creation_date: 2011-11-08T02:02:12Z

[Term]
id: DOID:0060177
name: homocarnosinosis
def: "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine." [url:http\://en.wikipedia.org/wiki/Carnosinemia, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf]
is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder
created_by: lschriml
creation_date: 2011-11-08T02:02:12Z

[Term]
id: DOID:0060178
name: familial hemiplegic migraine
def: "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness." [url:http\://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine]
comment: Xref MGI.
xref: ICD10CM:G43.1
xref: ICD9CM:346.8
xref: OMIM:141500
xref: OMIM:300125
xref: OMIM:602481
xref: OMIM:607516
xref: OMIM:609634
xref: ORDO:569
is_a: DOID:10024 ! migraine with aura
created_by: lschriml
creation_date: 2011-11-08T02:54:32Z

[Term]
id: DOID:0060179
name: Renpenning syndrome
def: "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males." [url:http\://en.wikipedia.org/wiki/Renpenning%27s_syndrome]
xref: OMIM:309500
is_a: DOID:0050888 ! syndromic intellectual disability
created_by: lschriml
creation_date: 2011-11-08T03:21:30Z

[Term]
id: DOID:0060180
name: colitis
def: "An inflammatory bowel disease that involves inflammation located_in colon." [url:http\://en.wikipedia.org/wiki/Colitis]
xref: EFO:0003872
xref: ICD10CM:K50
xref: ICD9CM:556.9
xref: MSH:D003092
xref: OMIM:191390
xref: SNOMEDCT:64226004
xref: UMLS_CUI:C0009319
is_a: DOID:0050589 ! inflammatory bowel disease
created_by: emitraka
creation_date: 2014-09-12T14:31:45Z

[Term]
id: DOID:0060181
name: ischemic colitis
def: "A colitis caused_by inadequate blood supply to the colon." [url:http\://en.wikipedia.org/wiki/Ischemic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677]
xref: CTV3:X303v
xref: ICD10CM:K55.9
xref: ICD9CM:557.9
xref: MSH:D017091
xref: SNOMEDCT:30588004
xref: UMLS_CUI:C0162529
is_a: DOID:0060180 ! colitis
created_by: emitraka
creation_date: 2014-09-12T14:36:51Z

[Term]
id: DOID:0060182
name: microscopic colitis
def: "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Microscopic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232]
xref: CTV3:X303w
xref: ICD10CM:K52.8
xref: ICD9CM:558.9
xref: MSH:D046728
xref: NCI:C38504
xref: ORDO:58220
xref: SNOMEDCT:235753003
is_a: DOID:0060180 ! colitis
created_by: emitraka
creation_date: 2014-09-12T14:49:18Z

[Term]
id: DOID:0060183
name: collagenous colitis
def: "A colitis characterized_by a distinctive thickening of the subepithelial collagen table." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Collagenous_colitis]
comment: Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.
xref: ICD10CM:K52.89
xref: ICD9CM:558.9
xref: MEDDRA:10048928
xref: MSH:D046729
xref: SNOMEDCT:19311003
xref: UMLS_CUI:C0238067
is_a: DOID:0060182 ! microscopic colitis
created_by: emitraka
creation_date: 2014-09-12T14:56:28Z

[Term]
id: DOID:0060184
name: lymphocytic colitis
def: "A colitis characterized_by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Lymphocytic_colitis]
comment: The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.
xref: MEDDRA:10025268
xref: MSH:D046730
xref: ORDO:65279
is_a: DOID:0060182 ! microscopic colitis
created_by: emitraka
creation_date: 2014-09-12T14:58:50Z

[Term]
id: DOID:0060185
name: Clostridium difficile colitis
def: "A colitis characterized_by an overgrowth of Clostridium difficile bacteria." [url:http\://en.wikipedia.org/wiki/Clostridium_difficile_colitis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000259.htm]
synonym: "Pseudomembranous colitis" EXACT [MSH:D004761]
xref: ICD10CM:A04.7
xref: ICD9CM:008.45
xref: MEDDRA:10009657
xref: MSH:D004761
xref: SNOMEDCT:423590009
is_a: DOID:0060180 ! colitis
created_by: emitraka
creation_date: 2014-09-12T15:01:17Z

[Term]
id: DOID:0060186
name: chemical colitis
def: "A colitis caused_by introduction of various chemicals." [PMID:18209577, url:http\://en.wikipedia.org/wiki/Chemical_colitis]
xref: ICD9CM:558.9
xref: SNOMEDCT:72965009
is_a: DOID:0060180 ! colitis
created_by: emitraka
creation_date: 2014-09-12T15:08:50Z

[Term]
id: DOID:0060187
name: diversion colitis
def: "A colitis caused_by diversion of the faecal stream due to complication of ileostomy or colostomy." [PMID:1916483, url:http\://en.wikipedia.org/wiki/Diversion_colitis]
xref: ICD9CM:558.9
xref: SNOMEDCT:51290000
is_a: DOID:0060180 ! colitis
created_by: emitraka
creation_date: 2014-09-12T15:14:29Z

[Term]
id: DOID:0060188
name: jejunoileitis
def: "An inflammatory bowel disease that is characterized_by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas." [PMID:15973125, url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html]
xref: ICD10CM:K50.0
is_a: DOID:8778 ! Crohn's disease
created_by: emitraka
creation_date: 2014-09-15T10:51:02Z

[Term]
id: DOID:0060189
name: ileitis
def: "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss." [url:http\://en.wikipedia.org/wiki/Ileitis, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html]
synonym: "Crohn's ileitis" EXACT []
xref: CSP:1248-5305
xref: CTV3:X302s
xref: ICD10CM:K50.0
xref: MEDDRA:10021312
xref: MSH:D007079
xref: NCI:C35329
xref: NDFRT:N0000001662
xref: SNOMEDCT:52457000
xref: WHO:1316
is_a: DOID:8778 ! Crohn's disease
created_by: emitraka
creation_date: 2014-09-15T11:40:07Z

[Term]
id: DOID:0060190
name: ileocolitis
def: "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part." [url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html]
comment: OWL classification.
xref: ICD10CM:K52.9
xref: MEDDRA:10062647
is_a: DOID:8778 ! Crohn's disease
created_by: emitraka
creation_date: 2014-09-15T12:22:19Z

[Term]
id: DOID:0060191
name: gastroduodenal Crohn's disease
def: "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite." [PMID:12769447, url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html]
synonym: "upper GI Crohn's disease" EXACT [url:http\://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx]
xref: ICD10CM:K50.0
is_a: DOID:8778 ! Crohn's disease
created_by: emitraka
creation_date: 2014-09-15T12:35:28Z

[Term]
id: DOID:0060192
name: Crohn's colitis
def: "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html]
comment: OWL classification.
xref: ICD10CM:K50.911
xref: ICD10CM:K50.913
xref: ICD10CM:K50.914
is_a: DOID:8778 ! Crohn's disease
created_by: emitraka
creation_date: 2014-09-15T12:50:24Z

[Term]
id: DOID:0060193
name: amyotrophic lateral sclerosis type 1
def: "The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis]
synonym: "ALS1" EXACT [OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1" EXACT [OMIM:105400]
xref: OMIM:105400
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T13:04:32Z

[Term]
id: DOID:0060194
name: amyotrophic lateral sclerosis type 2
def: "A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/205100]
synonym: "ALS2" EXACT [OMIM:205100]
synonym: "amyotrophic lateral sclerosis 2" EXACT [OMIMl:205100]
synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [OMIM:205100]
xref: OMIM:205100
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T13:12:14Z

[Term]
id: DOID:0060195
name: amyotrophic lateral sclerosis type 3
def: "A type of ALS with loci associated with the disease located_in chromosome 18." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/606640]
synonym: "ALS3" RELATED [OMIM:606640]
synonym: "amyotrophic lateral sclerosis 3" EXACT [OMIM:606640]
xref: OMIM:606640
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T13:18:38Z

[Term]
id: DOID:0060196
name: amyotrophic lateral sclerosis type 4
def: "A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602433]
synonym: "ALS 4" EXACT [OMIM:602433]
synonym: "amyotrophic lateral sclerosis 4" EXACT [OMIM:602433]
synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [OMIM:602433]
synonym: "dHMN with upper motor neuron signs" EXACT [ORDO:357043]
synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [OMIM:602433]
synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [ORDO:357043]
xref: OMIM:602433
xref: ORDO:357043
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T13:49:59Z

[Term]
id: DOID:0060197
name: amyotrophic lateral sclerosis type 5
def: "A type of ALS with juvenile onset with loci associated with the disease located_in chromosome 15." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602099]
synonym: "ALS5" EXACT [OMIM:602099]
synonym: "amyotrophic lateral sclerosis 5" EXACT [OMIM:602099]
xref: OMIM:602099
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:17:01Z

[Term]
id: DOID:0060198
name: amyotrophic lateral sclerosis type 6
def: "A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608030]
synonym: "ALS6" EXACT [OMIM:608030]
synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [OMIM:608030]
synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [OMIM:608030]
xref: OMIM:608030
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:21:07Z

[Term]
id: DOID:0060199
name: amyotrophic lateral sclerosis type 7
def: "A type of ALS with loci associated with the disease located_in chromosome 20." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608031]
synonym: "ALS7" EXACT [OMIM:608031]
synonym: "amyotrophic lateral sclerosis 7" EXACT [OMIM:608031]
xref: OMIM:608031
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:28:41Z

[Term]
id: DOID:0060200
name: amyotrophic lateral sclerosis type 9
def: "A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/611895]
synonym: "ALS9" EXACT [OMIM:611895]
synonym: "amyotrophic lateral sclerosis 9" EXACT [OMIM:611895]
xref: OMIM:611895
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:33:09Z

[Term]
id: DOID:0060201
name: amyotrophic lateral sclerosis type 10
def: "A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612069]
synonym: "ALS10" EXACT [OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10" EXACT [OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [OMIM:612069]
synonym: "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions" EXACT [OMIM:612069]
xref: OMIM:612069
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:36:54Z

[Term]
id: DOID:0060202
name: amyotrophic lateral sclerosis type 11
def: "A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612577]
synonym: "ALS11" EXACT [OMIM:612577]
synonym: "amyotrophic lateral sclerosis 11" EXACT [OMIM:612577]
xref: OMIM:612577
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:49:07Z

[Term]
id: DOID:0060203
name: amyotrophic lateral sclerosis type 12
def: "A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613435]
synonym: "ALS12" EXACT [OMIM:613435]
synonym: "amyotrophic lateral sclerosis 12" EXACT [OMIM:613435]
xref: OMIM:613435
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:53:12Z

[Term]
id: DOID:0060204
name: amyotrophic lateral sclerosis type 13
def: "A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/183090]
comment: An association between 29 or more CAG repeats and the development of ALS13 exists.
synonym: "ALS13" EXACT [OMIM:183090]
synonym: "amyotrophic lateral sclerosis 13" EXACT [OMIM:183090]
xref: OMIM:183090
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T14:56:08Z

[Term]
id: DOID:0060205
name: amyotrophic lateral sclerosis type 14
def: "A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613954]
synonym: "ALS14" EXACT [OMIM:613954]
synonym: "amyotrophic lateral sclerosis 14" EXACT [OMIM:613954]
synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [OMIM:613954]
xref: OMIM:613954
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:02:22Z

[Term]
id: DOID:0060206
name: amyotrophic lateral sclerosis type 15
def: "A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/300857]
comment: Described in one family only.
synonym: "ALS15" EXACT [OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15" EXACT [OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [OMIM:300857]
xref: OMIM:300857
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:12:48Z

[Term]
id: DOID:0060207
name: amyotrophic lateral sclerosis type 16
def: "A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614373]
synonym: "ALS16" EXACT [OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16" EXACT [OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [OMIM:614373]
xref: OMIM:614373
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:17:01Z

[Term]
id: DOID:0060208
name: amyotrophic lateral sclerosis type 17
def: "A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614696]
synonym: "ALS17" EXACT [OMIM:614696]
synonym: "amyotrophic lateral sclerosis 17" EXACT [OMIM:614696]
synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [OMIM:614696]
xref: OMIM:614696
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:20:50Z

[Term]
id: DOID:0060209
name: amyotrophic lateral sclerosis type 18
def: "A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614808]
synonym: "ALS18" EXACT [OMIM:614808]
synonym: "amyotrophic lateral sclerosis 18" EXACT [OMIM:614808]
xref: OMIM:614808
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:24:08Z

[Term]
id: DOID:0060210
name: amyotrophic lateral sclerosis type 19
def: "A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615515]
synonym: "ALS19" EXACT [OMIM:615515]
synonym: "amyotrophic lateral sclerosis 19" EXACT [OMIM:615515]
xref: OMIM:615515
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:30:22Z

[Term]
id: DOID:0060211
name: amyotrophic lateral sclerosis type 20
def: "A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615426]
synonym: "ALS20" EXACT [OMIM:615426]
synonym: "amyotrophic lateral sclerosis 20" EXACT [OMIM:615426]
xref: OMIM:615426
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T15:34:12Z

[Term]
id: DOID:0060212
name: amyotrophic lateral sclerosis type 21
def: "A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5." [url:http\://omim.org/entry/606070]
synonym: "ALS21" EXACT [OMIM:606070]
xref: OMIM:606070
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T16:06:31Z

[Term]
id: DOID:0060213
name: FTDALS1
def: "A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [url:http\://omim.org/entry/105550]
synonym: "ALSFTD" EXACT [OMIM:105550]
synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT [OMIM:105550]
synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [OMIM:105550]
synonym: "FTDMND" EXACT [OMIM:105550]
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T16:36:24Z

[Term]
id: DOID:0060214
name: FTDALS2
def: "A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [PMID:24934289, url:http\://omim.org/entry/615911]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" EXACT [OMIM:615911]
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: emitraka
creation_date: 2014-09-16T16:44:08Z

[Term]
id: DOID:0060215
name: Balo concentric sclerosis
def: "A rare demyelinating disease characterized_by the fact that the demyelinated tissues form concentric layers." [url:http\://en.wikipedia.org/wiki/Balo_concentric_sclerosis]
comment: Similar to standard multiple sclerosis.
synonym: "Balo's concentric sclerosis" EXACT []
xref: ICD10CM:G37.5
xref: ICD9CM:341.1
xref: MSH:D002549
xref: SNOMEDCT:230380005
is_a: DOID:3213 ! demyelinating disease
created_by: emitraka
creation_date: 2014-09-18T15:02:17Z

[Term]
id: DOID:0060216
name: Cogan syndrome
def: "A rare eye disease characterized_by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue." [url:http\://en.wikipedia.org/wiki/Cogan_syndrome]
comment: OWL also bilateral audiovestibular deficits.
synonym: "Cogan's syndrome" EXACT [ICD10CM:H16.32]
synonym: "diffuse interstitual keratitis" EXACT [ICD10CM:H16.32]
xref: ICD10CM:H16.32
xref: MSH:D055952
xref: ORDO:1467
is_a: DOID:5614 ! eye disease
created_by: emitraka
creation_date: 2014-09-22T16:29:20Z

[Term]
id: DOID:0060217
name: Cogan-Reese syndrome
def: "A rare eye disease characterized_by variable iris atrophy, pigmented and pedunculated nodules located_in iris and characterized_by attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma." [ICD10CM:H21.1, url:http\://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome, url:http\://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1]
xref: ICD10CM:H21.1
xref: MEDDRA:10059200
xref: ORDO:98980
xref: UMLS:C1168173
is_a: DOID:5614 ! eye disease
created_by: emitraka
creation_date: 2014-09-23T12:31:25Z

[Term]
id: DOID:0060218
name: CREST syndrome
def: "A syndrome characterized_by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia." [url:http\://en.wikipedia.org/wiki/CREST_syndrome]
xref: ICD10CM:M34.1
xref: ICD9CM:71.1
xref: MSH:D017675
xref: OMIM:181750
is_a: DOID:225 ! syndrome
created_by: emitraka
creation_date: 2014-09-24T16:30:36Z

[Term]
id: DOID:0060219
name: lymph node adenoid cystic carcinoma
def: "A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." [url:http\://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109, url:http\://www.oralcancerfoundation.org/facts/rare/ac/]
subset: DO_cancer_slim
synonym: "lymph node adenoid cystic cancer" EXACT []
is_a: DOID:10619 ! lymph node cancer
created_by: emitraka
creation_date: 2014-11-05T09:11:16Z

[Term]
id: DOID:0060220
name: physical urticaria
def: "An urticaria induced by external physical influences." [ISBN:1416029990, url:http\://en.wikipedia.org/wiki/Physical_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html]
comment: WD correction.
is_a: DOID:1555 ! urticaria
created_by: emitraka
creation_date: 2014-11-21T15:51:38Z

[Term]
id: DOID:0060221
name: Maffucci syndrome
def: "A syndrome characterized_by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas." [url:http\://en.wikipedia.org/wiki/Maffucci_syndrome, url:http\://ghr.nlm.nih.gov/condition/maffucci-syndrome]
comment: WD former synonym.
xref: ICD10CM:Q78.4
xref: OMIM:614569
xref: ORDO:163634
is_a: DOID:225 ! syndrome
created_by: emitraka
creation_date: 2014-11-26T11:16:24Z

[Term]
id: DOID:0060222
name: Scheie syndrome
def: "A mucopolysaccharidosis characterized_by corneal clouding, facial dysmorphism and normal lifespan." [url:http\://en.wikipedia.org/wiki/Scheie_syndrome]
comment: WD former synonym.
synonym: "mucopolysaccharidosis type 1S" EXACT []
synonym: "mucopolysaccharidosis type IS" EXACT []
synonym: "mucopolysaccharidosis type V" EXACT []
xref: ICD10CM:E76.0
xref: OMIM:607016
xref: ORDO:93474
is_a: DOID:12798 ! mucopolysaccharidosis
created_by: emitraka
creation_date: 2014-11-26T11:32:20Z

[Term]
id: DOID:0060223
name: agraphia
def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." [PMID:21507544, url:http\://en.wikipedia.org/wiki/Agraphia]
xref: ICD10CM:R48.8
is_a: DOID:0060047 ! writing disorder
created_by: emitraka
creation_date: 2014-11-26T11:44:01Z

[Term]
id: DOID:0070001
name: neoplastic disease
def: "A disease of cellular proliferation that results in an abnormal mass of tissue." [url:http\://en.wikipedia.org/wiki/Neoplasm]
is_obsolete: true

[Term]
id: DOID:0070003
name: blastoma
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells." [url:en.wikipedia.org/wiki/Blastoma]
is_a: DOID:0050687 ! cell type cancer

[Term]
id: DOID:0070004
name: myeloma
def: "A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body." [url:http\://www.merck.com/mmhe/sec14/ch175/ch175c.html#sec14-ch175-ch175c-328]
is_a: DOID:4960 ! bone marrow cancer

[Term]
id: DOID:0080000
name: muscular disease
is_a: DOID:17 ! musculoskeletal system disease

[Term]
id: DOID:0080001
name: bone disease
alt_id: DOID:1290
def: "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function." [url:http\://en.wikipedia.org/wiki/Bone_disease, url:http\://www.dsls.usra.edu/meetings/bonehealth_2005/information/factsheet1.pdf]
synonym: "skeletal disease" RELATED []
xref: MSH:D001847
xref: SNOMEDCT_2010_1_31:156814002
xref: SNOMEDCT_2010_1_31:203524000
xref: SNOMEDCT_2010_1_31:268126004
xref: SNOMEDCT_2010_1_31:274145000
xref: SNOMEDCT_2010_1_31:308147009
xref: SNOMEDCT_2010_1_31:76069003
xref: UMLS_CUI:C0005940
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:0080002
name: autosomal dominant disease
is_obsolete: true

[Term]
id: DOID:0080003
name: autosomal recessive disease
is_obsolete: true

[Term]
id: DOID:0080005
name: bone remodeling disease
def: "A bone disease that results_in formation or resorption abnormalities located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_remodeling]
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:0080006
name: bone development disease
def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." [url:http\://en.wikipedia.org/wiki/Dysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx]
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:0080007
name: bone deterioration disease
def: "A bone structure disease that results_in change or damage of structure located_in bone." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/004015.htm]
is_a: DOID:0080010 ! bone structure disease

[Term]
id: DOID:0080008
name: ischemic bone disease
def: "A bone disease that results_in an interruption of blood supply located_in bone." [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm]
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:0080009
name: X-linked dominant disease
is_obsolete: true

[Term]
id: DOID:0080010
name: bone structure disease
def: "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure." [url:http\://en.wikipedia.org/wiki/Human_skeleton]
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:0080011
name: bone resorption disease
def: "A bone remodeling disease that results in an abnormal decrease of bone density or mass." [url:http\://en.wikipedia.org/wiki/Bone_resorption, url:http\://www.ncbi.nlm.nih.gov/pubmed/11277085]
is_a: DOID:0080005 ! bone remodeling disease

[Term]
id: DOID:0080012
name: X-linked recessive disease
is_obsolete: true

[Term]
id: DOID:0080013
name: mitochondrial disease
is_obsolete: true

[Term]
id: DOID:0080014
name: chromosomal disease
def: "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes." [url:http\://en.wikipedia.org/wiki/Chromosome_abnormality, url:http\://www.genome.gov/11508982#al-5, url:http\://www.rarechromo.org/html/chromosomesanddisorders.asp]
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0080015
name: physical disorder
def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [url:http\://en.wikipedia.org/wiki/Congenital_disorder]
is_a: DOID:4 ! disease

[Term]
id: DOID:0080016
name: spina bifida
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:0080017
name: olivopontocerebellar atrophy V
synonym: "OPCA type 5" EXACT []
synonym: "OPCA with dementia and extrapyramidal signs" EXACT []
is_obsolete: true

[Term]
id: DOID:0080018
name: dysbaric osteonecrosis
def: "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone." [url:http\://en.wikipedia.org/wiki/Dysbaric_osteonecrosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/d/dysbaric_osteonecrosis.aspx]
synonym: "Caisson disease of bone" EXACT []
synonym: "DON" EXACT []
is_a: DOID:0080008 ! ischemic bone disease

[Term]
id: DOID:0080019
name: metaphyseal dysplasia
def: "An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone." [url:http\://en.wikipedia.org/wiki/Metaphyseal_dysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx]
synonym: "Bakwin-Krida syndrome" EXACT []
synonym: "Pyle's disease" EXACT []
synonym: "Pyle-Cohn syndrome" EXACT []
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080020
name: Jansen's metaphyseal chondrodysplasia
def: "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism." [url:http\://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype]
synonym: "Jansen Disease" EXACT []
synonym: "Jansen metaphyseal chondrodysplasia" EXACT []
synonym: "Jansen Metaphyseal Dysostosis" EXACT []
synonym: "Murk Jansen Type Metaphyseal Chondrodysplasia" EXACT []
is_a: DOID:0080019 ! metaphyseal dysplasia

[Term]
id: DOID:0080021
name: Schmid metaphyseal chondrodysplasia
def: "A metaphyseal dysplasia that results_in dwarfism and bowed legs." [url:http\://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia, url:http\://www.cigna.com/healthinfo/nord960.html, url:http\://www.ncbi.nlm.nih.gov/omim/156500]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Japanese type spondylometaphyseal dysplasia" EXACT []
synonym: "Schmid type metaphyseal dysplasia " EXACT []
xref: OMIM:156500
is_a: DOID:0080019 ! metaphyseal dysplasia

[Term]
id: DOID:0080022
name: McKusick type metaphyseal dysplasia
def: "A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair." [url:http\://children.webmd.com/mckusick-type-metaphyseal-chondrodysplasia, url:http\://www.cigna.com/healthinfo/nord636.html, url:http\://www.medterms.com/script/main/art.asp?articlekey=15730, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=McKusick%20Type%20Metaphyseal%20Chondrodysplasia]
synonym: "Cartilage-Hair Hypoplasia " EXACT []
is_a: DOID:0080019 ! metaphyseal dysplasia

[Term]
id: DOID:0080023
name: Schwachman Diamond type metaphyseal dysplasia
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:0080024
name: Pyles dysplasia
is_obsolete: true

[Term]
id: DOID:0080025
name: spondyloepiphyseal dysplasia congenita
is_obsolete: true

[Term]
id: DOID:0080026
name: otospondylomegaepiphyseal dysplasia
def: "An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss." [url:http\://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, url:http\://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, url:http\://www.ncbi.nlm.nih.gov/omim/215150]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS" EXACT []
synonym: "NANCE-INSLEY SYNDROME" EXACT []
synonym: "NANCE-SWEENEY CHONDRODYSPLASIA" EXACT []
xref: OMIM:215150
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080027
name: spondyloepimetaphyseal dysplasia
def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080028
name: spondyloepimetaphyseal dysplasia, Strudwick type
def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, url:http\://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:184250
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:0080030
name: spondyloepimetaphyseal dysplasia, Missouri type
def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities." [url:http\://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/602111, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:602111
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:0080031
name: fibrous dysplasia
def: "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue." [url:http\://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00083, url:http\://www.fibrousdysplasia.org/, url:http\://www.mayoclinic.com/health/fibrous-dysplasia/DS00991, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001234.htm]
is_a: DOID:0080005 ! bone remodeling disease

[Term]
id: DOID:0080032
name: craniodiaphyseal dysplasia
def: "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal." [url:http\://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513]
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:0080033
name: craniometaphyseal dysplasia
def: "An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs." [url:http\://children.webmd.com/craniometaphyseal-dysplasia, url:http\://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia]
comment: Xref MGI.
xref: OMIM:122860
xref: OMIM:123000
xref: OMIM:218300
xref: OMIM:218400
xref: OMIM:614099
xref: OMIM:614378
xref: ORDO:1522
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:0080034
name: endosteal hyperostosis
def: "A hyperostosis of endosteal bone." [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx]
is_obsolete: true

[Term]
id: DOID:0080036
name: SOST-related sclerosing bone dysplasia
alt_id: DOID:0080035
def: "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull." [url:http\://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx, url:http\://www.healthline.com/galecontent/sclerosing-bone-dysplasias, url:http\://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785, url:http\://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/269500, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152]
synonym: "sclerosteosis" EXACT []
synonym: "van Buchem disease" EXACT []
is_a: DOID:205 ! hyperostosis

[Term]
id: DOID:0080037
name: Worth's syndrome
def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." [url:http\://en.wikipedia.org/wiki/Worth_syndrome, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/144750]
synonym: "autosomal dominant endosteal hyperostosis" EXACT []
synonym: "autosomal dominant osteosclerosis" EXACT []
synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT []
synonym: "Worth syndrome" EXACT []
is_a: DOID:205 ! hyperostosis

[Term]
id: DOID:0080038
name: pycnodysostosis
def: "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges." [url:http\://en.wikipedia.org/wiki/Pycnodysostosis, url:http\://rarediseases.info.nih.gov/GARD/Condition/4611/Pycnodysostosis.aspx, url:http\://www.medicinenet.com/pycnodysostosis/article.htm, url:http\://www.ncbi.nlm.nih.gov/omim/265800, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=571&Disease_Disease_Search_diseaseGroup=Pycnodysostosis&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Pycnodysostosis&title=Pycnodysostosis&search=Disease_Search_Simple]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080039
name: axial osteomalacia
def: "An osteosclerosis that results_in coarsening located_in trabecular bone." [url:http\://en.wikipedia.org/wiki/Axial_osteomalacia, url:http\://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/109130]
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:0080040
name: fibrogenesis imperfecta ossium
def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/7559718]
synonym: "Baker's disease" EXACT []
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0080041
name: hypochondroplasia
def: "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Hypochondroplasia, url:http\://ghr.nlm.nih.gov/condition/hypochondroplasia, url:http\://www.healthline.com/galecontent/hypochondroplasia, url:http\://www.mcllr.com/sinaibody.cfm?id=1523, url:http\://www.medterms.com/script/main/art.asp?articlekey=9068, url:http\://www.ncbi.nlm.nih.gov/books/NBK1477/, url:http\://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro.html, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hypochondroplasia]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080043
name: achondrogenesis
def: "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period." [url:http\://en.wikipedia.org/wiki/Achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, url:http\://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080044
name: hypochondrogenesis
def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen." [url:http\://en.wikipedia.org/wiki/Hypochondrogenesis, url:http\://ghr.nlm.nih.gov/condition/hypochondrogenesis, url:http\://www.healthline.com/galecontent/hypochondrogenesis]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080045
name: Kniest dysplasia
def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face." [url:http\://ghr.nlm.nih.gov/condition/kniest-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6841, url:http\://www.ksginfo.org/kniest.html]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080046
name: Stickler syndrome
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:108300
xref: OMIM:184840
xref: OMIM:604841
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080047
name: pseudoachondroplasia
alt_id: DOID:14800
def: "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Pseudoachondroplasia, url:http\://ghr.nlm.nih.gov/condition/pseudoachondroplasia, url:http\://www.healthline.com/galecontent/pseudoachondroplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, url:http\://www.wheelessonline.com/ortho/pseudoachondroplasia]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "PSEUDOACHONDROPLASIA" EXACT []
synonym: "pseudoachondroplastic dysplasia" EXACT []
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC" EXACT []
xref: OMIM:177170
xref: UMLS_CUI:C0220699
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080048
name: trichorhinophalangeal syndrome I
def: "A" [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/gene/TRPS1, url:http\://trpsa.org/trpsa_wp/]
is_obsolete: true

[Term]
id: DOID:0080049
name: acromesomelic dysplasia
def: "An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism." [url:http\://www.cigna.com/healthinfo/nord1087.html, url:http\://www.questdiagnostics.com/kbase/nord/nord1087.htm, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia, url:http\://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia]
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080050
name: acromesomelic dysplasia, Maroteaux type
def: "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb." [pdf:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507, url:http\://www.ncbi.nlm.nih.gov/omim/602875]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:602875
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:0080051
name: acromesomelic dysplasia, Hunter-Thompson type
def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot." [pdf:http\://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506, url:http\://www.ncbi.nlm.nih.gov/omim/201250]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "acromesomelic dwarfism" EXACT []
xref: OMIM:201250
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:0080052
name: acromesomelic dysplasia, Grebe type
def: "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones." [pdf:http\://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:http\://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098]
synonym: "GREBE CHONDRODYSPLASIA" EXACT []
xref: OMIM:200700
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:0080053
name: Albright's hereditary osteodystrophy
def: "An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face." [pdf:http\://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf, url:http\://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770]
synonym: "Albright hereditary osteodystrophy" EXACT []
synonym: "pseudohypoparathyroidism type 1a" EXACT []
xref: OMIM:103580
is_a: DOID:4184 ! pseudohypoparathyroidism

[Term]
id: DOID:0080054
name: achondrogenesis type IA
def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine." [url:http\://emedicine.medscape.com/article/941176-overview, url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1A, url:http\://www.healthline.com/galecontent/achondrogenesis]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "achondrogenesis Houston-Harris type" EXACT []
xref: OMIM:200600
is_a: DOID:0080043 ! achondrogenesis

[Term]
id: DOID:0080055
name: achondrogenesis type IB
def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1B, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1516/]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "achondrogenesis Fraccaro type" EXACT []
xref: OMIM:600972
is_a: DOID:0080043 ! achondrogenesis

[Term]
id: DOID:0080056
name: achondrogenesis type II
def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis]
comment: OMIM mapping confirmed by DO. [SN].
xref: OMIM:200610
is_a: DOID:0080043 ! achondrogenesis

[Term]
id: DOID:100
name: intestinal infectious disease
alt_id: DOID:10960
alt_id: DOID:12509
alt_id: DOID:5270
def: "An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites." [url:http\://en.wikipedia.org/wiki/Intestine]
comment: Updating outdated UMLS CUI.
synonym: "bacterial enteritis" EXACT []
xref: ICD9CM:003
xref: SNOMEDCT_2010_1_31:186093004
xref: UMLS_CUI:C0178238
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10000
name: visual cortex disorder due to neoplasm
xref: ICD9CM:377.71
xref: SNOMEDCT_2010_1_31:194068002
xref: SNOMEDCT_2010_1_31:43727009
xref: UMLS_CUI:C0155317
is_obsolete: true

[Term]
id: DOID:10003
name: sensorineural hearing loss
alt_id: DOID:11053
alt_id: DOID:12112
alt_id: DOID:12114
comment: OMIM mapping confirmed by DO. [LS].
synonym: "central hearing loss" EXACT [ICD9CM_2006:389.14]
synonym: "High frequency deafness" EXACT [SNOMEDCT_2005_07_31:194421002]
synonym: "High Frequency Hearing Loss" EXACT [NCI2004_11_17:C34663]
synonym: "high-frequency hearing loss" EXACT []
synonym: "Perceptive deafness [diagnos]" EXACT [SNOMEDCT_2005_07_31:267770004]
synonym: "Perceptive hearing loss" EXACT [SNOMEDCT_2005_07_31:194421002]
synonym: "Perceptive hearing loss or deafness" EXACT [MTHICD9_2006:389.1]
synonym: "Sensorineural Deafness" EXACT [NCI2004_11_17:C26739]
synonym: "Sensory hearing loss" EXACT [ICD9CM_2006:389.11]
xref: ICD9CM:389.14
xref: MSH:D006313
xref: NCI:C34662
xref: OMIM:304400
xref: SNOMEDCT_2010_1_31:155256000
xref: SNOMEDCT_2010_1_31:194421002
xref: SNOMEDCT_2010_1_31:194427003
xref: SNOMEDCT_2010_1_31:232326009
xref: SNOMEDCT_2010_1_31:267770004
xref: SNOMEDCT_2010_1_31:60700002
xref: SNOMEDCT_2010_1_31:68467004
xref: UMLS_CUI:C0018776
xref: UMLS_CUI:C0018780
xref: UMLS_CUI:C0018784
xref: UMLS_CUI:C0155551
is_a: DOID:2952 ! inner ear disease

[Term]
id: DOID:10007
name: respiratory syncytial virus bronchiolitis
alt_id: DOID:10006
alt_id: DOID:2941
def: "A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production." [url:http\://en.wikipedia.org/wiki/Bronchiolitis, url:http\://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf]
synonym: "acute bronchiolitis due to RSV" EXACT [MTHICD9_2006:466.11]
synonym: "capillary pneumonia" EXACT []
synonym: "viral bronchiolitis" EXACT []
xref: ICD9CM:466.1
xref: NCI:C39659
xref: SNOMEDCT_2010_1_31:155513009
xref: SNOMEDCT_2010_1_31:195734006
xref: SNOMEDCT_2010_1_31:195741000
xref: SNOMEDCT_2010_1_31:5505005
xref: UMLS_CUI:C0001311
is_obsolete: true

[Term]
id: DOID:1001
name: labor complications
synonym: "Labour complications" EXACT [SNOMEDCT_2005_07_31:267342003]
xref: MSH:D007744
xref: SNOMEDCT_2010_1_31:267342003
xref: UMLS_CUI:C0022865
is_obsolete: true

[Term]
id: DOID:10011
name: thyroid lymphoma
xref: NCI:C5265
xref: UMLS_CUI:C1336753
is_a: DOID:1781 ! thyroid cancer

[Term]
id: DOID:10012
name: metastatic malignant neoplasm to the thyroid
synonym: "metastatic tumor to the Thyroid" EXACT [NCI2004_11_17:C7509]
synonym: "secondary malignant neoplasm of thyroid gland" EXACT [SNOMEDCT_2005_07_31:94634005]
xref: NCI:C7509
xref: SNOMEDCT_2010_1_31:94634005
xref: UMLS_CUI:C0347023
is_obsolete: true

[Term]
id: DOID:10013
name: polyglandular activity in multiple endocrine adenomatosis
xref: ICD9CM:258.0
xref: SNOMEDCT_2010_1_31:46724008
xref: UMLS_CUI:C0311355
is_obsolete: true

[Term]
id: DOID:10015
name: polyglandular dysfunction
xref: ICD9CM:258.1
xref: SNOMEDCT_2010_1_31:190567009
xref: SNOMEDCT_2010_1_31:267405009
xref: UMLS_CUI:C0154220
is_obsolete: true

[Term]
id: DOID:10016
name: Wagenmann-Froboese syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "MEN type IIB" EXACT [NCI2004_11_17:C3227]
synonym: "MEN2B" EXACT []
synonym: "mucosal neuroma syndrome" EXACT [CSP2005:2009-6300]
synonym: "multiple endocrine neoplasia type 2b" EXACT []
synonym: "Multiple endocrine neoplasia, type 3" EXACT [SNOMEDCT_2005_07_31:61530001]
xref: MSH:C537376
xref: MSH:D018814
xref: NCI:C3227
xref: OMIM:162300
xref: SNOMEDCT_2010_1_31:61530001
xref: UMLS_CUI:C0025269
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:10017
name: Wermer syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "MEN type I" EXACT [NCI2004_11_17:C3225]
synonym: "multiple endocrine neoplasia type 1" EXACT []
synonym: "Wermer's syndrome" EXACT [MTHICD9_2006:258.0]
xref: ICD9CM:258.01
xref: MSH:D018761
xref: NCI:C3225
xref: OMIM:131100
xref: SNOMEDCT_2010_1_31:190566000
xref: SNOMEDCT_2010_1_31:30664006
xref: UMLS_CUI:C0025267
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:10018
name: papilledema associated with increased intracranial pressure
xref: ICD9CM:377.01
xref: MSH:D010211
xref: SNOMEDCT_2010_1_31:3170006
xref: SNOMEDCT_2010_1_31:423488006
xref: UMLS_CUI:C0155288
is_obsolete: true

[Term]
id: DOID:1002
name: endometritis
xref: MSH:D004716
xref: NCI:C26764
xref: SNOMEDCT_2010_1_31:155975003
xref: SNOMEDCT_2010_1_31:198192000
xref: SNOMEDCT_2010_1_31:266652001
xref: SNOMEDCT_2010_1_31:266653006
xref: SNOMEDCT_2010_1_31:78623009
xref: UMLS_CUI:C0014179
is_a: DOID:1005 ! endometrial disease

[Term]
id: DOID:10020
name: ampulla of Vater cancer
synonym: "malignant tumour of ampulla of vater" EXACT [SNOMEDCT_2005_07_31:93668007]
xref: ICD9CM:156.2
xref: NCI:C3536
xref: SNOMEDCT_2010_1_31:363417006
xref: SNOMEDCT_2010_1_31:93668007
xref: UMLS_CUI:C0153454
is_a: DOID:10021 ! duodenum cancer

[Term]
id: DOID:10021
name: duodenum cancer
alt_id: DOID:6072
def: "A small intestine cancer that is located_in the beginning section of the small intestine." [url:http\://en.wikipedia.org/wiki/Duodenal_cancer]
subset: TopNodes_DOcancerslim
synonym: "cancer of duodenum" EXACT [NCI2004_11_17:C4803]
synonym: "Duodenal cancer" EXACT [SNOMEDCT_2005_07_31:363403002]
xref: ICD9CM:152.0
xref: NCI:C9328
xref: SNOMEDCT_2010_1_31:154555009
xref: SNOMEDCT_2010_1_31:269615000
xref: SNOMEDCT_2010_1_31:363403002
xref: SNOMEDCT_2010_1_31:93775003
xref: UMLS_CUI:C0153426
xref: UMLS_CUI:C0541912
is_a: DOID:10154 ! small intestine cancer

[Term]
id: DOID:10022
name: ampulla of vater neoplasm
synonym: "tumor of the ampulla of vater" EXACT [NCI2004_11_17:C4443]
xref: NCI:C4443
xref: SNOMEDCT_2010_1_31:126858004
xref: UMLS_CUI:C0345916
is_a: DOID:1737 ! duodenal benign neoplasm

[Term]
id: DOID:10024
name: migraine with aura
alt_id: DOID:10025
def: "A migraine characterized_by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon." [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404]
comment: Xref MGI.
synonym: "classic migraine" EXACT []
xref: ICD10CM:G43.1
xref: ICD9CM:346.0
xref: MSH:D020325
xref: OMIM:609179
xref: OMIM:609670
xref: SNOMEDCT_2010_1_31:155047002
xref: SNOMEDCT_2010_1_31:4473006
xref: UMLS_CUI:C0154723
is_a: DOID:6364 ! migraine

[Term]
id: DOID:10027
name: tabes dorsalis
def: "A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm]
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Posterior spinal sclerosis" EXACT [MTHICD9_2006:094.0]
synonym: "Tabes dorsalis - neurosyphilis" EXACT [SNOMEDCT_2005_07_31:186885003]
xref: ICD9CM:094.0
xref: MSH:D013606
xref: NCI:C35057
xref: SNOMEDCT_2010_1_31:154384001
xref: SNOMEDCT_2010_1_31:186885003
xref: SNOMEDCT_2010_1_31:266134000
xref: SNOMEDCT_2010_1_31:266210001
xref: SNOMEDCT_2010_1_31:2844004
xref: SNOMEDCT_2010_1_31:315826004
xref: SNOMEDCT_2010_1_31:316841006
xref: SNOMEDCT_2010_1_31:51928006
xref: UMLS_CUI:C0039223
is_a: DOID:9988 ! tertiary neurosyphilis

[Term]
id: DOID:1003
name: pelvic inflammatory disease
synonym: "female pelvic inflammatory disease" EXACT [SNOMEDCT_2005_07_31:155967009]
synonym: "Inflammatory disease of female pelvic organs and/or tissues" EXACT [SNOMEDCT_2005_07_31:198130006]
synonym: "PID" EXACT [MTHICD9_2006:614.9]
xref: ICD9CM:614-616.99
xref: ICD9CM:614.9
xref: MSH:D000292
xref: NCI:C3889
xref: SNOMEDCT_2010_1_31:155967009
xref: SNOMEDCT_2010_1_31:155968004
xref: SNOMEDCT_2010_1_31:155974004
xref: SNOMEDCT_2010_1_31:155986001
xref: SNOMEDCT_2010_1_31:198130006
xref: SNOMEDCT_2010_1_31:198131005
xref: SNOMEDCT_2010_1_31:198178006
xref: SNOMEDCT_2010_1_31:198244005
xref: SNOMEDCT_2010_1_31:198570007
xref: SNOMEDCT_2010_1_31:266584000
xref: SNOMEDCT_2010_1_31:266648001
xref: SNOMEDCT_2010_1_31:266651008
xref: SNOMEDCT_2010_1_31:37518008
xref: UMLS_CUI:C0242172
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:10030
name: interstitial emphysema
xref: ICD9CM:518.1
xref: NCI:C34571
xref: SNOMEDCT_2010_1_31:11211003
xref: UMLS_CUI:C1370824
is_a: DOID:9675 ! pulmonary emphysema

[Term]
id: DOID:10031
name: compensatory emphysema
xref: ICD9CM:518.2
xref: SNOMEDCT_2010_1_31:33325001
xref: UMLS_CUI:C0155918
is_a: DOID:9675 ! pulmonary emphysema

[Term]
id: DOID:10032
name: hyperlucent lung
xref: MSH:D019568
xref: UMLS_CUI:C0524799
is_a: DOID:9675 ! pulmonary emphysema

[Term]
id: DOID:10033
name: cycloplegia
synonym: "Ciliary muscle paresis" EXACT [SNOMEDCT_2005_07_31:68158006]
synonym: "Cycloplegic paralysis of accommodation" EXACT [SNOMEDCT_2005_07_31:232141000]
synonym: "Paresis of accommodation" EXACT [ICD9CM_2006:367.51]
xref: ICD9CM:367.51
xref: SNOMEDCT_2010_1_31:232141000
xref: SNOMEDCT_2010_1_31:255335004
xref: SNOMEDCT_2010_1_31:68158006
xref: UMLS_CUI:C0235238
is_a: DOID:10034 ! eye accommodation disease

[Term]
id: DOID:10034
name: eye accommodation disease
xref: ICD9CM:367.5
xref: SNOMEDCT_2010_1_31:155137002
xref: SNOMEDCT_2010_1_31:193631008
xref: SNOMEDCT_2010_1_31:54552008
xref: UMLS_CUI:C0152198
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:10035
name: asymptomatic neurosyphilis
def: "A tertiary neurosyphilis that results_in mild meningitis." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
xref: ICD9CM:094.3
xref: MSH:D009494
xref: SNOMEDCT_2010_1_31:37754005
xref: UMLS_CUI:C0153167
is_a: DOID:9988 ! tertiary neurosyphilis

[Term]
id: DOID:10038
name: old burn scar-related melanoma of skin
xref: NCI:C27919
xref: UMLS_CUI:C1335104
is_obsolete: true

[Term]
id: DOID:10039
name: late congenital syphilis
alt_id: DOID:10796
def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." [url:http\://en.wikipedia.org/wiki/Late_congenital_syphilis, url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html]
subset: gram-negative_bacterial_infectious_disease
synonym: "juvenile neurosyphilis" EXACT []
xref: ICD9CM:090.4
xref: ICD9CM:090.40
xref: MSH:D009494
xref: SNOMEDCT_2010_1_31:186836008
xref: SNOMEDCT_2010_1_31:186837004
xref: SNOMEDCT_2010_1_31:186839001
xref: SNOMEDCT_2010_1_31:187350002
xref: SNOMEDCT_2010_1_31:4243004
xref: SNOMEDCT_2010_1_31:82323002
xref: UMLS_CUI:C0153132
xref: UMLS_CUI:C0153136
is_a: DOID:9856 ! congenital syphilis

[Term]
id: DOID:10040
name: malignant eyelid melanoma
xref: ICD9CM:172.1
xref: NCI:C4358
xref: SNOMEDCT_2010_1_31:188031009
xref: SNOMEDCT_2010_1_31:231834005
xref: UMLS_CUI:C0339116
is_a: DOID:8923 ! skin melanoma

[Term]
id: DOID:10041
name: dysplastic nevus syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "familial atypical multiple mole-melanoma" EXACT []
synonym: "FAMM syndrome" EXACT [NCI2004_11_17:C27264]
xref: MSH:D004416
xref: OMIM:155600
xref: OMIM:155601
xref: UMLS_CUI:C0205747
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:10042
name: regressing skin melanoma
synonym: "regressing malignant melanoma of the skin" EXACT [NCI2004_11_17:C7089]
xref: NCI:C7089
xref: UMLS_CUI:C1335733
is_obsolete: true

[Term]
id: DOID:10044
name: balloon cell malignant melanoma
xref: NCI:C4227
xref: SNOMEDCT_2010_1_31:39274007
xref: SNOMEDCT_2010_1_31:403922007
xref: UMLS_CUI:C0334426
is_a: DOID:8923 ! skin melanoma

[Term]
id: DOID:10045
name: malignant giant pigmented nevus melanoma
synonym: "malignant melanoma in congenital melanocytic naevus" EXACT [SNOMEDCT_2005_07_31:75931002]
synonym: "skin melanoma in Giant Pigmented nevus" EXACT [NCI2004_11_17:C4235]
xref: SNOMEDCT_2010_1_31:75931002
xref: UMLS_CUI:C0334441
is_obsolete: true

[Term]
id: DOID:10047
name: nodular malignant melanoma
def: "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule." [url:http\://en.wikipedia.org/wiki/Nodular_melanoma, url:http\://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/]
subset: DO_cancer_slim
synonym: "nodular melanoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2142002]
xref: NCI:C4225
xref: SNOMEDCT_2010_1_31:2142002
xref: SNOMEDCT_2010_1_31:254731001
xref: UMLS_CUI:C0334424
is_a: DOID:8923 ! skin melanoma

[Term]
id: DOID:10048
name: malignant junctional nevus melanoma
synonym: "malignant melanoma in junctional nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:915007]
synonym: "melanoma in Junctional nevus" EXACT [NCI2004_11_17:C4232]
xref: NCI:C4232
xref: SNOMEDCT_2010_1_31:915007
xref: UMLS_CUI:C0334434
is_obsolete: true

[Term]
id: DOID:10049
name: desmoplastic melanoma
def: "A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck." [url:http\://www.cancer.gov/dictionary/?CdrID=321367]
xref: NCI:C37257
xref: UMLS_CUI:C1333280
is_obsolete: true

[Term]
id: DOID:1005
name: endometrial disease
xref: NCI:C3504
xref: SNOMEDCT_2010_1_31:418632009
xref: UMLS_CUI:C0151622
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:10053
name: malignant skin blue nevus
synonym: "Blue nevus-Like melanoma" EXACT [NCI2004_11_17:C4240]
xref: NCI:C4240
xref: SNOMEDCT_2010_1_31:307603002
xref: SNOMEDCT_2010_1_31:67159000
xref: UMLS_CUI:C0334447
is_obsolete: true

[Term]
id: DOID:10054
name: skin amelanotic melanoma
synonym: "skin amelanotic malignant melanoma" EXACT []
xref: NCI:C4633
xref: SNOMEDCT_2010_1_31:276751004
xref: UMLS_CUI:C0349515
is_a: DOID:8923 ! skin melanoma

[Term]
id: DOID:10059
name: Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium
xref: ICD9CM:654.7
xref: UMLS_CUI:C0157045
is_obsolete: true

[Term]
id: DOID:10066
name: syphilitic acoustic neuritis
def: "A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved." [url:http\://archotol.ama-assn.org/cgi/content/summary/40/4/261]
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
xref: ICD9CM:094.86
xref: SNOMEDCT_2010_1_31:186892008
xref: SNOMEDCT_2010_1_31:19206003
xref: UMLS_CUI:C0153173
is_obsolete: true

[Term]
id: DOID:10069
name: subglottis neoplasm
synonym: "Subglottic tumor" EXACT [NCI2004_11_17:C4426]
xref: NCI:C4426
xref: SNOMEDCT_2010_1_31:126696001
xref: UMLS_CUI:C0345746
is_a: DOID:2598 ! laryngeal benign neoplasm

[Term]
id: DOID:10070
name: larynx leiomyoma
xref: NCI:C6027
xref: UMLS_CUI:C1334370
is_a: DOID:2598 ! laryngeal benign neoplasm

[Term]
id: DOID:10071
name: larynx squamous papilloma
xref: NCI:C7742
xref: SNOMEDCT_2010_1_31:269637007
xref: UMLS_CUI:C0240164
is_a: DOID:2598 ! laryngeal benign neoplasm

[Term]
id: DOID:10073
name: syphilitic meningitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
xref: ICD9CM:094.2
xref: MSH:C536775
xref: SNOMEDCT_2010_1_31:14968007
xref: SNOMEDCT_2010_1_31:186887006
xref: SNOMEDCT_2010_1_31:301086002
xref: UMLS_CUI:C0153166
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:10074
name: hymenolepiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." [url:http\://en.wikipedia.org/wiki/Hymenolepiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001378.htm]
synonym: "dwarf tapeworm infection " EXACT []
synonym: "Hymenolepis infectious disease" EXACT [MTHICD9_2006:123.6]
xref: ICD9CM:123.6
xref: MSH:D006925
xref: NCI:C84768
xref: SNOMEDCT_2010_1_31:187153007
xref: SNOMEDCT_2010_1_31:44917000
xref: UMLS_CUI:C0020413
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:10075
name: diphyllobothriasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." [url:http\://en.wikipedia.org/wiki/Diphyllobothrium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm]
synonym: "Diphyllobothrium infection" EXACT [MTHICD9_2006:123.4]
synonym: "fish tapeworm" EXACT []
xref: ICD9CM:123.4
xref: MSH:D004169
xref: SNOMEDCT_2010_1_31:187151009
xref: SNOMEDCT_2010_1_31:359799003
xref: SNOMEDCT_2010_1_31:49047003
xref: UMLS_CUI:C0012561
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:10079
name: cysticercosis
alt_id: DOID:10078
alt_id: DOID:14424
def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." [url:http\://en.wikipedia.org/wiki/Cysticercosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Cysticercosis.htm]
synonym: "intestinal taenia solium infection" EXACT [SNOMEDCT_2005_07_31:266160004]
synonym: "neurocysticercosis" EXACT []
synonym: "Pork tapeworm infection" EXACT [MTHICD9_2006:123.0]
synonym: "Tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [SNOMEDCT_2005_07_31:187147007]
synonym: "tenia solium infectious disease" EXACT []
xref: ICD9CM:123.1
xref: MSH:D003551
xref: NCI:C34520
xref: SNOMEDCT_2010_1_31:105684008
xref: SNOMEDCT_2010_1_31:187527007
xref: SNOMEDCT_2010_1_31:59051007
xref: UMLS_CUI:C0010678
is_a: DOID:0050596 ! taeniasis

[Term]
id: DOID:10080
name: sparganosis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." [url:http\://en.wikipedia.org/wiki/Sparganosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm]
synonym: "Infection by Sparganum" EXACT [MTHICD9_2006:123.5]
synonym: "Sparganosis [larval diphyllobothriasis]" EXACT [ICD9CM_2006:123.5]
xref: ICD9CM:123.5
xref: MSH:D013031
xref: NCI:C35030
xref: SNOMEDCT_2010_1_31:187152002
xref: SNOMEDCT_2010_1_31:31659000
xref: UMLS_CUI:C0037753
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:10081
name: syphilitic encephalitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilis encephalitis" EXACT [SNOMEDCT_2005_07_31:192699001]
xref: ICD9CM:094.81
xref: SNOMEDCT_2010_1_31:192699001
xref: SNOMEDCT_2010_1_31:192700000
xref: SNOMEDCT_2010_1_31:26135000
xref: UMLS_CUI:C0153168
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:10087
name: gastric leiomyoma
synonym: "leiomyoma of the stomach" EXACT [NCI2004_11_17:C3876]
xref: NCI:C3876
xref: SNOMEDCT_2010_1_31:276812001
xref: UMLS_CUI:C0238440
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm

[Term]
id: DOID:10095
name: intracranial abscess
xref: ICD9CM:324.0
xref: NCI:C34734
xref: SNOMEDCT_2010_1_31:192738001
xref: SNOMEDCT_2010_1_31:192746000
xref: SNOMEDCT_2010_1_31:27614006
xref: UMLS_CUI:C0021874
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:10111
name: Congenital or acquired abnormality of vagina, with delivery
xref: ICD9CM:654.71
xref: UMLS_CUI:C0157047
is_obsolete: true

[Term]
id: DOID:10112
name: sleeping sickness
def: "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances." [url:http\://en.wikipedia.org/wiki/African_trypanosomiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001362.htm, url:http\://www.who.int/mediacentre/factsheets/fs259/en/]
subset: zoonotic_infectious_disease
synonym: "African sleeping sickness" EXACT [CSP2005:2214-6161]
synonym: "African trypanosomiasis" EXACT [MTH:NOCODE]
xref: ICD9CM:086.5
xref: KEGG:05143
xref: MSH:D014353
xref: NCI:C84541
xref: SNOMEDCT_2010_1_31:186818008
xref: SNOMEDCT_2010_1_31:187512007
xref: SNOMEDCT_2010_1_31:27031003
xref: SNOMEDCT_2010_1_31:78940002
xref: UMLS_CUI:C0041228
is_a: DOID:10113 ! trypanosomiasis

[Term]
id: DOID:10113
name: trypanosomiasis
def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." [url:http\://en.wikipedia.org/wiki/Trypanosomiasis]
xref: ICD9CM:086
xref: ICD9CM:086.9
xref: MSH:D014352
xref: SNOMEDCT_2010_1_31:154375001
xref: SNOMEDCT_2010_1_31:186819000
xref: SNOMEDCT_2010_1_31:266205000
xref: SNOMEDCT_2010_1_31:78940002
xref: UMLS_CUI:C0041227
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:10114
name: Trypanosoma brucei rhodesiense infectious disease
def: "A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems." [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm]
subset: zoonotic_infectious_disease
synonym: "East African trypanosomiasis" EXACT []
synonym: "Rhodesian sleeping sickness" EXACT [MTHICD9_2006:086.4]
synonym: "Rhodesian trypanosomiasis" EXACT [ICD9CM_2006:086.4]
synonym: "trypanosoma rhodesiense infectious disease" EXACT []
xref: ICD9CM:086.4
xref: NCI:C35085
xref: SNOMEDCT_2010_1_31:42872003
xref: UMLS_CUI:C0041233
is_obsolete: true

[Term]
id: DOID:10116
name: Trypanosoma brucei gambiense infectious disease
def: "A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems." [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm]
subset: zoonotic_infectious_disease
synonym: "Gambian sleeping sickness" EXACT [MTHICD9_2006:086.3]
synonym: "Gambian Trypanosomiasis" EXACT [NCI2004_11_17:C35084]
synonym: "West African trypanosomiasis" EXACT []
xref: ICD9CM:086.3
xref: NCI:C35084
xref: SNOMEDCT_2010_1_31:75809006
xref: UMLS_CUI:C0041232
is_obsolete: true

[Term]
id: DOID:10120
name: eyelid degenerative disease
xref: ICD9CM:374.50
xref: SNOMEDCT_2010_1_31:1112003
xref: SNOMEDCT_2010_1_31:193957009
xref: UMLS_CUI:C0155209
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:10121
name: degenerative disorder of eyelid and periocular area
xref: ICD9CM:374.5
xref: SNOMEDCT_2010_1_31:193956000
xref: SNOMEDCT_2010_1_31:193961003
xref: UMLS_CUI:C0155208
is_obsolete: true

[Term]
id: DOID:10122
name: hyperpigmentation of eyelid
comment: OMIM mapping confirmed by DO. [SN].
synonym: "dyspigmentation of eyelid" EXACT []
xref: ICD9CM:374.52
xref: OMIM:145100
xref: SNOMEDCT_2010_1_31:41115008
xref: UMLS_CUI:C0155211
is_a: DOID:10120 ! eyelid degenerative disease
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:10123
name: pigmentation disease
xref: ICD9CM:709.09
xref: UMLS_CUI:C0375489
is_a: DOID:37 ! skin disease

[Term]
id: DOID:10124
name: corneal disease
alt_id: DOID:2284
xref: ICD9CM:371.9
xref: MSH:D003316
xref: NCI:C26731
xref: SNOMEDCT_2010_1_31:15250008
xref: SNOMEDCT_2010_1_31:155160005
xref: SNOMEDCT_2010_1_31:193794007
xref: SNOMEDCT_2010_1_31:193856004
xref: SNOMEDCT_2010_1_31:267733008
xref: UMLS_CUI:C0010034
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:10125
name: acute hydrops keratoconus
synonym: "Keratoconus, acute hydrops" EXACT [ICD9CM_2006:371.62]
xref: ICD9CM:371.62
xref: SNOMEDCT_2010_1_31:111523009
xref: UMLS_CUI:C0339286
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:10126
name: keratoconus
def: "A corneal disease characterized_by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." [url:http\://en.wikipedia.org/wiki/Keratoconus, url:http\://ghr.nlm.nih.gov/glossary=keratoconus]
comment: Xref MGI.
synonym: "conical cornea" EXACT []
xref: ICD10CM:H18.6
xref: ICD9CM:371.6
xref: MSH:D007640
xref: NCI:C26806
xref: OMIM:148300
xref: OMIM:608586
xref: OMIM:608932
xref: OMIM:609271
xref: OMIM:614622
xref: OMIM:614623
xref: OMIM:614628
xref: OMIM:614629
xref: ORDO:156071
xref: SNOMEDCT_2010_1_31:155160005
xref: SNOMEDCT_2010_1_31:193843006
xref: SNOMEDCT_2010_1_31:193846003
xref: SNOMEDCT_2010_1_31:267733008
xref: SNOMEDCT_2010_1_31:65636009
xref: UMLS_CUI:C0022578
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:10127
name: cerebral artery occlusion
xref: ICD9CM:434
xref: ICD9CM:434.9
xref: SNOMEDCT_2010_1_31:155400001
xref: SNOMEDCT_2010_1_31:155403004
xref: SNOMEDCT_2010_1_31:195188006
xref: SNOMEDCT_2010_1_31:20059004
xref: SNOMEDCT_2010_1_31:266255008
xref: SNOMEDCT_2010_1_31:286956007
xref: UMLS_CUI:C0028790
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:10128
name: venous insufficiency
def: "A vein disease that is characterized by impaired flow of blood through the veins." [url:http\://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000203.htm]
synonym: "peripheral venous insufficiency" EXACT [SNOMEDCT_2005_07_31:20696009]
xref: ICD9CM:459.81
xref: MSH:D014689
xref: SNOMEDCT_2010_1_31:20696009
xref: UMLS_CUI:C0042485
is_a: DOID:866 ! vein disease

[Term]
id: DOID:10131
name: psychologic vaginismus
synonym: "Functional vaginismus" EXACT [MTHICD9_2006:306.51]
synonym: "Non-organic vaginismus" EXACT [SNOMEDCT_2005_07_31:192469003]
synonym: "Psychogenic Vaginismus" EXACT [NCI2004_11_17:C35113]
xref: ICD9CM:306.51
xref: MSH:D052065
xref: NCI:C35113
xref: SNOMEDCT_2010_1_31:154924008
xref: SNOMEDCT_2010_1_31:192469003
xref: SNOMEDCT_2010_1_31:268773000
xref: SNOMEDCT_2010_1_31:71787009
xref: UMLS_CUI:C0042266
is_a: DOID:10132 ! psychosexual disorder
is_a: DOID:121 ! vaginal disease

[Term]
id: DOID:10132
name: psychosexual disorder
xref: ICD9CM:302.79
xref: UMLS_CUI:C0033951
is_a: DOID:0060043 ! sexual disorder

[Term]
id: DOID:10138
name: xerophthalmia
synonym: "Conjunctival xerosis" EXACT [ICD9CM_2006:372.53]
synonym: "xerophthalmus" EXACT [CSP2005:1114-9931]
xref: ICD9CM:372.53
xref: MSH:D014985
xref: NCI:C34503
xref: SNOMEDCT_2010_1_31:155167008
xref: SNOMEDCT_2010_1_31:193887002
xref: SNOMEDCT_2010_1_31:363677007
xref: SNOMEDCT_2010_1_31:64718006
xref: SNOMEDCT_2010_1_31:69316005
xref: UMLS_CUI:C0043349
is_a: DOID:10139 ! conjunctival degeneration
is_a: DOID:10140 ! dry eye syndrome

[Term]
id: DOID:10139
name: conjunctival degeneration
xref: ICD9CM:372.50
xref: SNOMEDCT_2010_1_31:193886006
xref: SNOMEDCT_2010_1_31:40787005
xref: UMLS_CUI:C0155160
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:10140
name: dry eye syndrome
synonym: "Tear film insufficiency" EXACT [SNOMEDCT_2005_07_31:193980001]
xref: ICD9CM:375.15
xref: MSH:D015352
xref: NCI:C34553
xref: SNOMEDCT_2010_1_31:155182003
xref: SNOMEDCT_2010_1_31:193980001
xref: SNOMEDCT_2010_1_31:46152009
xref: UMLS_CUI:C0013238
is_a: DOID:1400 ! lacrimal apparatus disease

[Term]
id: DOID:10141
name: asthenopia
synonym: "Accommodative asthenopia (finding)" EXACT [SNOMEDCT_2005_07_31:46640001]
synonym: "Accommodative strain" EXACT [SNOMEDCT_2005_07_31:193645002]
xref: MSH:D001248
xref: SNOMEDCT_2010_1_31:193645002
xref: SNOMEDCT_2010_1_31:46640001
xref: SNOMEDCT_2010_1_31:70323002
xref: UMLS_CUI:C0004095
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:10142
name: Chlamydia trachomatis peritonitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "venereal disease of peritoneum due to Chlamydia trachomatis" EXACT []
xref: ICD9CM:099.56
xref: UMLS_CUI:C0375041
is_obsolete: true

[Term]
id: DOID:10144
name: secondary malignant neoplasm to the thymus
synonym: "metastatic tumor to the Thymus" EXACT [NCI2004_11_17:C4903]
xref: NCI:C4903
xref: SNOMEDCT_2010_1_31:94632009
xref: UMLS_CUI:C0686617
is_obsolete: true

[Term]
id: DOID:10145
name: metastases to mediastinum
synonym: "metastatic tumor to the mediastinum" EXACT [NCI2004_11_17:C3578]
synonym: "secondary malignant neoplasm of mediastinum" EXACT [ICD9CM_2006:197.1]
xref: ICD9CM:197.1
xref: NCI:C3578
xref: SNOMEDCT_2010_1_31:94409002
xref: UMLS_CUI:C0153677
is_obsolete: true

[Term]
id: DOID:10146
name: thymus lymphoma
xref: NCI:C6451
xref: UMLS_CUI:C1336745
is_a: DOID:3277 ! thymus cancer

[Term]
id: DOID:10149
name: long bones of lower limb cancer
def: "A bone cancer that is manifested in the long bones of the lower limb." [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm]
synonym: "malignant neoplasm of long bones of leg" EXACT [SNOMEDCT_2005_07_31:187959005]
xref: ICD9CM:170.7
xref: SNOMEDCT_2010_1_31:187959005
xref: SNOMEDCT_2010_1_31:187963003
xref: SNOMEDCT_2010_1_31:93871001
xref: UMLS_CUI:C0153517
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:10150
name: lower limb cancer
def: "A malignant neoplasm that is manifested in the lower limb." [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm]
synonym: "cancer of lower limb" RELATED []
synonym: "malignant neoplasm of lower limb" EXACT [ICD9CM_2006:195.5]
xref: ICD9CM:195.5
xref: SNOMEDCT_2010_1_31:188372002
xref: SNOMEDCT_2010_1_31:363504005
xref: SNOMEDCT_2010_1_31:93875005
xref: UMLS_CUI:C0153665
is_obsolete: true

[Term]
id: DOID:10151
name: malignant neoplasm of short bones of lower limb
synonym: "malignant neoplasm of short bone of lower limb" EXACT [SNOMEDCT_2005_07_31:94003005]
synonym: "malignant neoplasm of short bones of leg" EXACT [SNOMEDCT_2005_07_31:187964009]
xref: ICD9CM:170.8
xref: SNOMEDCT_2010_1_31:187964009
xref: SNOMEDCT_2010_1_31:187979002
xref: SNOMEDCT_2010_1_31:269468002
xref: SNOMEDCT_2010_1_31:94003005
xref: UMLS_CUI:C0153518
is_a: DOID:10149 ! long bones of lower limb cancer

[Term]
id: DOID:10152
name: Meckel's diverticulum cancer
synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [SNOMEDCT_2005_07_31:93890009]
synonym: "Meckel diverticulum cancer" EXACT []
xref: ICD9CM:152.3
xref: SNOMEDCT_2010_1_31:187752007
xref: SNOMEDCT_2010_1_31:93890009
xref: UMLS_CUI:C0153429
is_a: DOID:10153 ! ileum cancer

[Term]
id: DOID:10153
name: ileum cancer
def: "A small intestine cancer that is located_in the ileum." [url:http\://en.wikipedia.org/wiki/Ileum]
subset: TopNodes_DOcancerslim
synonym: "malignant neoplasm of ileum" EXACT [ICD9CM_2006:152.2]
xref: ICD9CM:152.2
xref: SNOMEDCT_2010_1_31:363405009
xref: SNOMEDCT_2010_1_31:93832004
xref: UMLS_CUI:C0153428
is_a: DOID:10154 ! small intestine cancer

[Term]
id: DOID:10154
name: small intestine cancer
def: "An intestinal cancer that is located_in the small intestine." [url:http\://en.wikipedia.org/wiki/Small_intestine]
xref: ICD9CM:152.9
xref: NCI:C7523
xref: SNOMEDCT_2010_1_31:154555009
xref: SNOMEDCT_2010_1_31:187755009
xref: SNOMEDCT_2010_1_31:269615000
xref: SNOMEDCT_2010_1_31:363509000
xref: SNOMEDCT_2010_1_31:94048009
xref: UMLS_CUI:C0153425
is_a: DOID:10155 ! intestinal cancer

[Term]
id: DOID:10155
name: intestinal cancer
def: "A gastrointestinal system cancer that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Intestine]
subset: TopNodes_DOcancerslim
synonym: "malignant intestinal tumors" EXACT [NCI2004_11_17:C4572]
synonym: "malignant neoplasm of intestine" EXACT [SNOMEDCT_2005_07_31:93838000]
xref: ICD9CM:159.0
xref: MSH:D007414
xref: NCI:C4572
xref: SNOMEDCT_2010_1_31:187819006
xref: SNOMEDCT_2010_1_31:190089002
xref: SNOMEDCT_2010_1_31:363508008
xref: SNOMEDCT_2010_1_31:93838000
xref: UMLS_CUI:C0346627
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:10156
name: ileal neoplasm
synonym: "Ileal tumor" EXACT [NCI2004_11_17:C3130]
synonym: "tumor of ileum (disorder)" EXACT [SNOMEDCT_2005_07_31:254576003]
xref: MSH:D007078
xref: NCI:C3130
xref: SNOMEDCT_2010_1_31:126835002
xref: SNOMEDCT_2010_1_31:254576003
xref: UMLS_CUI:C0020876
is_a: DOID:7505 ! small intestine neoplasm

[Term]
id: DOID:10159
name: osteonecrosis
alt_id: DOID:10160
alt_id: DOID:10161
alt_id: DOID:10162
alt_id: DOID:10163
alt_id: DOID:10164
alt_id: DOID:4128
alt_id: DOID:8380
alt_id: DOID:86
def: "An ischemic bone disease that results_in necrosis located_in bone." [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm]
synonym: "Avascular necrosis of bone" EXACT [NCI2004_11_17:C34841]
synonym: "bone necrosis" EXACT [CSP2005:2715-1650]
xref: ICD9CM:733.42
xref: NCI:C34404
xref: SNOMEDCT_2010_1_31:156837008
xref: SNOMEDCT_2010_1_31:17926002
xref: SNOMEDCT_2010_1_31:203487006
xref: SNOMEDCT_2010_1_31:240196003
xref: SNOMEDCT_2010_1_31:29281007
xref: SNOMEDCT_2010_1_31:34686004
xref: SNOMEDCT_2010_1_31:397758007
xref: SNOMEDCT_2010_1_31:43453000
xref: SNOMEDCT_2010_1_31:62100001
xref: SNOMEDCT_2010_1_31:83453001
xref: UMLS_CUI:C0003977
xref: UMLS_CUI:C0027543
xref: UMLS_CUI:C0029445
xref: UMLS_CUI:C0158442
xref: UMLS_CUI:C0158449
xref: UMLS_CUI:C0158450
xref: UMLS_CUI:C0158451
xref: UMLS_CUI:C0158452
xref: UMLS_CUI:C0745048
is_a: DOID:0080008 ! ischemic bone disease

[Term]
id: DOID:1016
name: primary tuberculosis
subset: gram-positive_bacterial_infectious_disease
xref: ICD9CM:010.8
xref: SNOMEDCT_2010_1_31:111831006
xref: SNOMEDCT_2010_1_31:186173009
xref: UMLS_CUI:C0152538
is_obsolete: true

[Term]
id: DOID:10173
name: tuberculous myelitis
alt_id: DOID:6356
subset: gram-positive_bacterial_infectious_disease
synonym: "tuberculoma of spinal cord" EXACT []
synonym: "Tuberculous abscess of spinal cord" EXACT [ICD9CM_2006:013.5]
xref: ICD9CM:013.6
xref: ICD9CM:013.60
xref: SNOMEDCT_2010_1_31:186220003
xref: SNOMEDCT_2010_1_31:186222006
xref: UMLS_CUI:C0152696
is_obsolete: true

[Term]
id: DOID:10174
name: lacrimal passage granuloma
synonym: "Granuloma of lacrimal passages" EXACT [ICD9CM_2006:375.81]
synonym: "Granuloma of lacrimal passages (disorder)" EXACT [SNOMEDCT_2005_07_31:82836006]
synonym: "lacrimal passage granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:194001006]
xref: ICD9CM:375.81
xref: SNOMEDCT_2010_1_31:194001006
xref: SNOMEDCT_2010_1_31:417563003
xref: SNOMEDCT_2010_1_31:82836006
xref: UMLS_CUI:C0155253
is_a: DOID:1400 ! lacrimal apparatus disease

[Term]
id: DOID:10175
name: optic papillitis
synonym: "papillitis" EXACT [CSP2005:2042-6609]
xref: ICD9CM:377.31
xref: MSH:C537165
xref: MSH:D010211
xref: SNOMEDCT_2010_1_31:73221001
xref: UMLS_CUI:C0162293
is_a: DOID:1210 ! optic neuritis

[Term]
id: DOID:10176
name: neuroretinitis
synonym: "Focal retinitis and retinochoroiditis, juxtapapillary" EXACT [ICD9CM_2006:363.05]
synonym: "Juxtapapillary focal retinitis AND retinochoroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:46497009]
synonym: "Papilloretinitis" EXACT [SNOMEDCT_2005_07_31:410471004]
xref: ICD9CM:363.05
xref: MSH:D012173
xref: SNOMEDCT_2010_1_31:410471004
xref: SNOMEDCT_2010_1_31:46497009
xref: UMLS_CUI:C0154874
is_a: DOID:10175 ! optic papillitis
is_a: DOID:1979 ! focal chorioretinitis

[Term]
id: DOID:10177
name: malignant hypertensive renal disease
xref: SNOMEDCT_2010_1_31:65443008
xref: UMLS_CUI:C0155593
is_a: DOID:1073 ! renal hypertension

[Term]
id: DOID:10182
name: diabetic peripheral angiopathy
xref: ICD9CM:250.7
xref: SNOMEDCT_2010_1_31:127014009
xref: SNOMEDCT_2010_1_31:190354007
xref: SNOMEDCT_2010_1_31:190361006
xref: SNOMEDCT_2010_1_31:267383000
xref: SNOMEDCT_2010_1_31:267473003
xref: SNOMEDCT_2010_1_31:982001
xref: UMLS_CUI:C0011871
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:10183
name: endobronchial lipoma
xref: NCI:C5063
xref: UMLS_CUI:C0852937
is_a: DOID:3906 ! bronchial neoplasm

[Term]
id: DOID:10184
name: spindle cell lipoma
def: "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men." [url:http\://en.wikipedia.org/wiki/Lipoma]
synonym: "spindle cell Lipoma" EXACT [NCI2004_11_17:C4254]
synonym: "spindle cell lipoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404058008]
synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:27313007]
xref: NCI:C4254
xref: SNOMEDCT_2010_1_31:27313007
xref: SNOMEDCT_2010_1_31:404058008
xref: UMLS_CUI:C0334474
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:10187
name: esophageal lipoma
synonym: "Lipoma of esophagus" EXACT [NCI2004_11_17:C5701]
xref: NCI:C5701
xref: UMLS_CUI:C1333455
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm

[Term]
id: DOID:10188
name: skin lipoma
alt_id: DOID:10198
alt_id: DOID:3943
synonym: "Cutaneous Lipoma" EXACT [NCI2004_11_17:C4616]
synonym: "cutaneous lipomatous tumor" EXACT []
synonym: "lipoma of face" EXACT []
synonym: "Lipoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:255187008]
synonym: "Lipoma of skin and subcutaneous tissue of face" EXACT [ICD9CM_2006:214.0]
synonym: "Lipoma of skin and subcutaneous tissue of face (disorder)" EXACT [SNOMEDCT_2005_07_31:93159009]
synonym: "Lipoma of skin and subcutaneous tissue of face NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188989000]
synonym: "Lipomatous tumor of skin" EXACT [NCI2004_11_17:C5566]
xref: ICD9CM:214.0
xref: SNOMEDCT_2010_1_31:188989000
xref: SNOMEDCT_2010_1_31:255187008
xref: SNOMEDCT_2010_1_31:93159009
xref: UMLS_CUI:C0153968
xref: UMLS_CUI:C0347394
xref: UMLS_CUI:C1333174
is_a: DOID:3165 ! skin benign neoplasm

[Term]
id: DOID:1019
name: osteomyelitis
alt_id: DOID:1018
alt_id: DOID:1020
alt_id: DOID:10281
alt_id: DOID:10282
alt_id: DOID:10692
alt_id: DOID:10860
alt_id: DOID:1164
alt_id: DOID:11788
alt_id: DOID:11959
alt_id: DOID:12011
alt_id: DOID:13673
alt_id: DOID:13674
alt_id: DOID:13675
alt_id: DOID:13678
alt_id: DOID:13684
alt_id: DOID:13737
alt_id: DOID:14003
alt_id: DOID:14100
alt_id: DOID:14166
alt_id: DOID:2249
alt_id: DOID:2250
alt_id: DOID:5858
alt_id: DOID:9456
def: "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow." [url:http\://en.wikipedia.org/wiki/Osteomyelitis, url:http\://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx, url:http\://www.mayoclinic.com/health/osteomyelitis/DS00759, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000437.htm]
xref: ICD9CM:730.1
xref: ICD9CM:730.10
xref: MSH:D010019
xref: SNOMEDCT_2010_1_31:156791003
xref: SNOMEDCT_2010_1_31:156800002
xref: SNOMEDCT_2010_1_31:203181001
xref: SNOMEDCT_2010_1_31:203183003
xref: SNOMEDCT_2010_1_31:203205002
xref: SNOMEDCT_2010_1_31:40970001
xref: UMLS_CUI:C0008707
xref: UMLS_CUI:C0158372
xref: UMLS_CUI:C0158381
is_a: DOID:3342 ! bone inflammation disease

[Term]
id: DOID:10190
name: liver lipoma
synonym: "Lipoma of the Liver" EXACT [NCI2004_11_17:C5750]
xref: NCI:C5750
xref: UMLS_CUI:C1333970
is_a: DOID:409 ! liver disease
is_a: DOID:916 ! liver neoplasm

[Term]
id: DOID:10191
name: autosomal deletion syndrome
xref: ICD9CM:758.3
xref: UMLS_CUI:C0004402
is_obsolete: true

[Term]
id: DOID:10192
name: pleomorphic lipoma
def: "A lipoma that is characterized by floret giant cells with overlapping nuclei." [url:http\://en.wikipedia.org/wiki/Pleomorphic_lipoma]
synonym: "Pleomorphic Lipoma" EXACT [NCI2004_11_17:C3703]
synonym: "Pleomorphic lipoma" EXACT [SNOMEDCT_2005_07_31:189783001]
synonym: "Pleomorphic lipoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404059000]
synonym: "Pleomorphic lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21396005]
xref: MSH:D008067
xref: NCI:C3703
xref: SNOMEDCT_2010_1_31:189783001
xref: SNOMEDCT_2010_1_31:21396005
xref: SNOMEDCT_2010_1_31:404059000
xref: UMLS_CUI:C0205823
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:10193
name: classic type lipoma
xref: NCI:C27530
xref: UMLS_CUI:C1333059
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:10194
name: kidney lipoma
synonym: "Lipoma of kidney" EXACT [NCI2004_11_17:C5101]
xref: NCI:C5101
xref: UMLS_CUI:C1335744
is_a: DOID:3116 ! kidney benign neoplasm

[Term]
id: DOID:10195
name: pleural lipoma
synonym: "Lipoma of Pleura" EXACT [NCI2004_11_17:C6644]
xref: NCI:C6644
xref: UMLS_CUI:C1335434
is_a: DOID:0050621 ! respiratory system benign neoplasm

[Term]
id: DOID:10199
name: breast lipoma
synonym: "breast Lipoma" EXACT [NCI2004_11_17:C4647]
synonym: "Lipoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:276891009]
xref: NCI:C4647
xref: SNOMEDCT_2010_1_31:276891009
xref: UMLS_CUI:C0349565
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:10200
name: chest wall lipoma
synonym: "Lipoma of the Chest Wall" EXACT [NCI2004_11_17:C6719]
xref: NCI:C6719
xref: UMLS_CUI:C1332932
is_a: DOID:0060097 ! thoracic benign neoplasm

[Term]
id: DOID:10201
name: gallbladder lipoma
synonym: "Lipoma of the gallbladder" EXACT [NCI2004_11_17:C5835]
xref: NCI:C5835
xref: UMLS_CUI:C1333747
is_a: DOID:0050625 ! biliary tract neoplasm

[Term]
id: DOID:10202
name: lipoma of intrathoracic organ
synonym: "Lipoma of intrathoracic organs (disorder)" EXACT [SNOMEDCT_2005_07_31:93158001]
xref: ICD9CM:214.2
xref: SNOMEDCT_2010_1_31:189011004
xref: SNOMEDCT_2010_1_31:93158001
xref: UMLS_CUI:C0153970
is_obsolete: true

[Term]
id: DOID:10203
name: external auditory meatus lipoma
synonym: "Lipoma of external auditory meatus (disorder)" EXACT [SNOMEDCT_2005_07_31:188988008]
synonym: "Lipoma of the External ear" EXACT [NCI2004_11_17:C4618]
xref: NCI:C4618
xref: SNOMEDCT_2010_1_31:188988008
xref: UMLS_CUI:C0347423
is_a: DOID:0060096 ! sensory organ benign neoplasm

[Term]
id: DOID:10204
name: lipoma of intra-abdominal organ
synonym: "Lipoma of intra-abdominal organs (disorder)" EXACT [SNOMEDCT_2005_07_31:93157006]
xref: ICD9CM:214.3
xref: SNOMEDCT_2010_1_31:189012006
xref: SNOMEDCT_2010_1_31:93157006
xref: UMLS_CUI:C0153971
is_obsolete: true

[Term]
id: DOID:10205
name: axillary lipoma
def: "An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue." [url:http\://en.wikipedia.org/wiki/Axilla, url:http\://en.wikipedia.org/wiki/Lipoma]
synonym: "Lipoma of axilla (disorder)" EXACT [SNOMEDCT_2005_07_31:188993006]
xref: NCI:C35419
xref: SNOMEDCT_2010_1_31:188993006
xref: UMLS_CUI:C0347429
is_a: DOID:0060097 ! thoracic benign neoplasm

[Term]
id: DOID:10206
name: lipoma of spermatic cord
synonym: "Lipoma of spermatic cord" EXACT [ICD9CM_2006:214.4]
synonym: "Lipoma of spermatic cord (disorder)" EXACT [SNOMEDCT_2005_07_31:93162007]
synonym: "Spermatic Cord Lipoma" EXACT [NCI2004_11_17:C3606]
xref: ICD9CM:214.4
xref: NCI:C3606
xref: SNOMEDCT_2010_1_31:93162007
xref: UMLS_CUI:C0153972
is_a: DOID:10207 ! paratesticular lipoma

[Term]
id: DOID:10207
name: paratesticular lipoma
xref: NCI:C6384
xref: UMLS_CUI:C1335348
is_a: DOID:0050622 ! reproductive organ benign neoplasm

[Term]
id: DOID:10208
name: chondroid lipoma
def: "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women." [url:http\://en.wikipedia.org/wiki/Lipoma]
synonym: "Chondroid lipoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404065000]
synonym: "Chondroid lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128746001]
xref: NCI:C6503
xref: SNOMEDCT_2010_1_31:128746001
xref: SNOMEDCT_2010_1_31:404065000
xref: UMLS_CUI:C1266131
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:10209
name: extrahepatic bile duct lipoma
synonym: "Lipoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5854]
xref: NCI:C5854
xref: UMLS_CUI:C1333509
is_a: DOID:0050625 ! biliary tract neoplasm

[Term]
id: DOID:10210
name: calculus of gallbladder and bile duct without cholecystitis
alt_id: DOID:10212
synonym: "calculus of gallbladder and bile duct without cholecystitis, with obstruction" EXACT []
xref: ICD9CM:574.9
xref: UMLS_CUI:C0375374
is_obsolete: true

[Term]
id: DOID:10211
name: cholelithiasis
xref: EFO:0004799
xref: ICD9CM:574.5
xref: MSH:D002769
xref: SNOMEDCT_2010_1_31:197397004
xref: SNOMEDCT_2010_1_31:266475002
xref: UMLS_CUI:C0006739
is_a: DOID:0000000 ! gallbladder disease

[Term]
id: DOID:1022
name: pinta disease
alt_id: DOID:1021
alt_id: DOID:10490
alt_id: DOID:1813
alt_id: DOID:3573
def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic." [url:http\://emedicine.medscape.com/article/225576-overview#a0104]
subset: gram-negative_bacterial_infectious_disease
xref: ICD9CM:103
xref: ICD9CM:103.9
xref: MSH:D010874
xref: NCI:C85011
xref: SNOMEDCT_2010_1_31:186975003
xref: SNOMEDCT_2010_1_31:186976002
xref: SNOMEDCT_2010_1_31:187373005
xref: SNOMEDCT_2010_1_31:22064009
xref: SNOMEDCT_2010_1_31:240685007
xref: SNOMEDCT_2010_1_31:4669001
xref: SNOMEDCT_2010_1_31:68131004
xref: SNOMEDCT_2010_1_31:68202005
xref: SNOMEDCT_2010_1_31:7251008
xref: SNOMEDCT_2010_1_31:73594001
xref: UMLS_CUI:C0031946
xref: UMLS_CUI:C0153241
xref: UMLS_CUI:C0153242
xref: UMLS_CUI:C0153243
xref: UMLS_CUI:C0153244
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:10220
name: failed induction
alt_id: DOID:10221
synonym: "Failed mechanical induction of labor, antepartum" EXACT []
xref: ICD9CM:659.00
xref: UMLS_CUI:C0157168
is_obsolete: true

[Term]
id: DOID:10222
name: polymyositis
xref: ICD9CM:710.4
xref: MSH:D017285
xref: NCI:C26925
xref: SNOMEDCT_2010_1_31:15099002
xref: SNOMEDCT_2010_1_31:156457001
xref: SNOMEDCT_2010_1_31:31384009
xref: UMLS_CUI:C0085655
is_obsolete: true

[Term]
id: DOID:10223
name: dermatomyositis
def: "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction." [url:http\://en.wikipedia.org/wiki/Dermatomyositis, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis]
comment: MSH:C538250 added from NeuroDevNet [WAK].
synonym: "Amyopathic dermatomyositis" RELATED [MSH:C538250]
synonym: "dermatopolymyositis" EXACT []
synonym: "Dermatopolymyositis, unspecified" EXACT [SNOMEDCT_2005_07_31:201448000]
synonym: "Polymyositis with skin involvement" EXACT [MTHICD9_2006:710.3]
xref: ICD10CM:M33.0
xref: ICD9CM:710.3
xref: MSH:C538250
xref: MSH:D003882
xref: NCI:C26744
xref: SNOMEDCT_2010_1_31:156456005
xref: SNOMEDCT_2010_1_31:201445002
xref: SNOMEDCT_2010_1_31:201448000
xref: SNOMEDCT_2010_1_31:203795006
xref: SNOMEDCT_2010_1_31:38826005
xref: SNOMEDCT_2010_1_31:396230008
xref: UMLS_CUI:C0011633
is_a: DOID:633 ! myositis

[Term]
id: DOID:10226
name: single episode manic disorder
xref: ICD9CM:296.03
xref: UMLS_CUI:C0154392
is_obsolete: true

[Term]
id: DOID:10229
name: partial epilepsy, with impairment of consciousness, with intractable epilepsy
xref: ICD9CM:345.41
xref: UMLS_CUI:C0154713
is_obsolete: true

[Term]
id: DOID:1023
name: borderline leprosy
def: "A leprosy that results in small numerous red irregularly shaped plaques." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Borderline_leprosy]
subset: gram-positive_bacterial_infectious_disease
synonym: "Borderline leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:400008009]
synonym: "Borderline leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:50521002]
synonym: "Borderline leprosy [group B]" EXACT [ICD9CM_2006:030.3]
synonym: "Borderline or dimorphous leprosy" EXACT [MTHICD9_2006:030.3]
synonym: "Midborderline leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:400154003]
xref: ICD9CM:030.3
xref: MSH:D015439
xref: SNOMEDCT_2010_1_31:400008009
xref: SNOMEDCT_2010_1_31:400154003
xref: SNOMEDCT_2010_1_31:50521002
xref: UMLS_CUI:C0023346
is_a: DOID:1024 ! leprosy

[Term]
id: DOID:10230
name: aortic atherosclerosis
synonym: "Aortic atherosclerosis" EXACT [SNOMEDCT_2005_07_31:155415000]
synonym: "Aortic atherosclerosis" EXACT [SNOMEDCT_2005_07_31:195252007]
synonym: "Atherosclerosis of aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:81817003]
xref: ICD9CM:440.0
xref: SNOMEDCT_2010_1_31:155415000
xref: SNOMEDCT_2010_1_31:195252007
xref: SNOMEDCT_2010_1_31:81817003
xref: UMLS_CUI:C0155733
is_a: DOID:1936 ! atherosclerosis

[Term]
id: DOID:10233
name: Histoplasma capsulatum pericarditis
def: "An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16924162]
synonym: "Histoplasma capsulatum with pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187040006]
xref: ICD9CM:115.03
xref: SNOMEDCT_2010_1_31:187040006
xref: UMLS_CUI:C0153265
is_obsolete: true

[Term]
id: DOID:10234
name: histoplasmosis pericarditis
synonym: "Histoplasmosis with pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187059008]
xref: ICD9CM:115.93
xref: SNOMEDCT_2010_1_31:187059008
xref: UMLS_CUI:C0153279
is_a: DOID:1787 ! pericarditis

[Term]
id: DOID:10235
name: Brown's tendon sheath syndrome
synonym: "Brown tendon sheath syndrome" EXACT []
synonym: "Brown's (tendon) sheath syndrome" EXACT [ICD9CM_2006:378.61]
synonym: "Brown's sheath syndrome" EXACT [MTHICD9_2006:378.61]
synonym: "Brown's tendon sheath syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:35929003]
xref: ICD9CM:378.61
xref: MSH:D015835
xref: SNOMEDCT_2010_1_31:35929003
xref: UMLS_CUI:C0155339
is_a: DOID:9306 ! mechanical strabismus

[Term]
id: DOID:10236
name: exhibitionism
xref: ICD9CM:302.4
xref: MSH:D005084
xref: SNOMEDCT_2010_1_31:154907002
xref: SNOMEDCT_2010_1_31:191781000
xref: SNOMEDCT_2010_1_31:192514003
xref: SNOMEDCT_2010_1_31:268763002
xref: SNOMEDCT_2010_1_31:58349009
xref: UMLS_CUI:C0015269
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:10237
name: pelvic cancer
def: "A malignant neoplasm that is manifested in the pelvic region." [url:http\://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm]
synonym: "neoplasm of pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:126644004]
synonym: "pelvis neoplasm" EXACT [CSP2005:2005-4862]
xref: MSH:D010386
xref: SNOMEDCT_2010_1_31:126644004
xref: UMLS_CUI:C0030793
is_obsolete: true

[Term]
id: DOID:10238
name: malignant neoplasm of rectum, rectosigmoid junction and anus
synonym: "malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)" EXACT [SNOMEDCT_2005_07_31:187760008]
synonym: "malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187766002]
synonym: "malignant neoplasm of rectum, rectosigmoid junction, and anus" EXACT [ICD9CM_2006:154]
xref: ICD9CM:154
xref: SNOMEDCT_2010_1_31:187760008
xref: SNOMEDCT_2010_1_31:187766002
xref: UMLS_CUI:C0153442
is_obsolete: true

[Term]
id: DOID:10239
name: malignant neoplasm of pelvic bones, sacrum and coccyx
synonym: "Ca pelvic bones/sacrum/coccyx" EXACT [SNOMEDCT_2005_07_31:154498005]
synonym: "Ca pelvic bones/sacrum/coccyx (disorder)" EXACT [SNOMEDCT_2005_07_31:269573006]
synonym: "malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)" EXACT [SNOMEDCT_2005_07_31:187952001]
synonym: "malignant neoplasm of pelvic bones, sacrum, and coccyx" EXACT [ICD9CM_2006:170.6]
synonym: "malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187958002]
xref: ICD9CM:170.6
xref: SNOMEDCT_2010_1_31:154498005
xref: SNOMEDCT_2010_1_31:187952001
xref: SNOMEDCT_2010_1_31:187958002
xref: SNOMEDCT_2010_1_31:269573006
xref: UMLS_CUI:C0153516
is_obsolete: true

[Term]
id: DOID:1024
name: leprosy
def: "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Leprosy]
comment: Xref MGI.
subset: gram-positive_bacterial_infectious_disease
xref: EFO:0001054
xref: ICD10CM:A30
xref: ICD9CM:030
xref: ICD9CM:030.9
xref: MSH:D007918
xref: NCI:C84824
xref: OMIM:246300
xref: OMIM:607572
xref: OMIM:609888
xref: OMIM:610988
xref: OMIM:613223
xref: OMIM:613407
xref: ORDO:548
xref: SNOMEDCT_2010_1_31:154298007
xref: SNOMEDCT_2010_1_31:186339006
xref: SNOMEDCT_2010_1_31:187316006
xref: SNOMEDCT_2010_1_31:266184007
xref: SNOMEDCT_2010_1_31:81004002
xref: UMLS_CUI:C0023343
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:10240
name: malignant neoplasm of pelvis
synonym: "malignant neoplasm of pelvis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188370005]
synonym: "malignant neoplasm of pelvis, NOS" EXACT [SNOMEDCT_2005_07_31:93953009]
synonym: "malignant tumor of pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:363484005]
xref: ICD9CM:195.3
xref: SNOMEDCT_2010_1_31:188370005
xref: SNOMEDCT_2010_1_31:363484005
xref: SNOMEDCT_2010_1_31:93953009
xref: UMLS_CUI:C0153663
is_obsolete: true

[Term]
id: DOID:10241
name: thalassemia
alt_id: DOID:12242
alt_id: DOID:12243
comment: OMIM mapping confirmed by DO. [LS].
synonym: "Sickle-cell thalassemia with crisis" EXACT [ICD9CM_2006:282.42]
synonym: "Sickle-cell thalassemia without crisis" EXACT [ICD9CM_2006:282.41]
synonym: "thalassemia Hb-S disease with crisis" EXACT []
synonym: "thalassemia Hb-S disease without crisis" EXACT []
xref: ICD9CM:282.4
xref: MSH:D013789
xref: NCI:C35069
xref: OMIM:604131
xref: SNOMEDCT_2010_1_31:154796005
xref: SNOMEDCT_2010_1_31:191182000
xref: SNOMEDCT_2010_1_31:191192008
xref: SNOMEDCT_2010_1_31:191193003
xref: SNOMEDCT_2010_1_31:267521001
xref: SNOMEDCT_2010_1_31:267557006
xref: SNOMEDCT_2010_1_31:40108008
xref: SNOMEDCT_2010_1_31:84188003
xref: UMLS_CUI:C0039730
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:10242
name: ehrlichiosis
alt_id: DOID:0050023
def: "A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash." [url:http\://emedicine.medscape.com/article/235839-overview, url:http\://en.wikipedia.org/wiki/Ehrlichiosis]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
synonym: "human ehrlichiosis" EXACT []
xref: ICD9CM:082.4
xref: ICD9CM:082.40
xref: MSH:D016873
xref: SNOMEDCT_2010_1_31:77361002
xref: UMLS_CUI:C0085399
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:10245
name: delayed separation of umbilical cord
xref: ICD9CM:779.83
xref: OMIM:MTHU019079
xref: UMLS_CUI:C1260438
is_obsolete: true

[Term]
id: DOID:10247
name: pleurisy
def: "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs." [url:http\://en.wikipedia.org/wiki/Pleurisy, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2]
xref: ICD9CM:511.8
xref: UMLS_CUI:C0029799
is_a: DOID:1532 ! pleural disease

[Term]
id: DOID:1025
name: tuberculoid leprosy
def: "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Tuberculoid_leprosy]
subset: gram-positive_bacterial_infectious_disease
synonym: "Smooth leprosy" EXACT [SNOMEDCT_2005_07_31:70143003]
synonym: "Tuberculoid leprosy [type T]" EXACT [ICD9CM_2006:030.1]
synonym: "type T leprosy" EXACT [MTHICD9_2006:030.1]
xref: ICD9CM:030.1
xref: MSH:D015441
xref: SNOMEDCT_2010_1_31:70143003
xref: UMLS_CUI:C0023351
is_a: DOID:1024 ! leprosy

[Term]
id: DOID:10250
name: louping ill
def: "A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." [url:http\://www.defra.gov.uk/foodfarm/farmanimal/diseases/vetsurveillance/profiles/documents/sp-loupingill.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/15606630]
subset: tick-borne_infectious_disease
synonym: "Louping ill" EXACT [ICD9CM_2006:063.1]
xref: ICD9CM:063.1
xref: MSH:D008146
xref: SNOMEDCT_2010_1_31:59350003
xref: UMLS_CUI:C0024025
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10254
name: strawberry gallbladder
synonym: "Cholesterolosis of gallbladder" EXACT [ICD9CM_2006:575.6]
synonym: "Cholesterolosis of gallbladder (disorder)" EXACT [SNOMEDCT_2005_07_31:61565001]
xref: ICD9CM:575.6
xref: SNOMEDCT_2010_1_31:61565001
xref: UMLS_CUI:C0152456
is_a: DOID:0000000 ! gallbladder disease

[Term]
id: DOID:10255
name: conjunctival degenerations and deposits
synonym: "Conjunctival degenerations and deposits (disorder)" EXACT [SNOMEDCT_2005_07_31:193885005]
xref: ICD9CM:372.5
xref: SNOMEDCT_2010_1_31:193885005
xref: UMLS_CUI:C0155159
is_obsolete: true

[Term]
id: DOID:10256
name: vitamin A deficiency with conjunctival xerosis
synonym: "vitamin A deficiency with conjunctival xerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:27796003]
xref: ICD9CM:264.0
xref: SNOMEDCT_2010_1_31:190609004
xref: SNOMEDCT_2010_1_31:27796003
xref: UMLS_CUI:C0154231
is_obsolete: true

[Term]
id: DOID:10257
name: vitamin A deficiency
xref: ICD9CM:264.8
xref: MSH:D014802
xref: SNOMEDCT_2010_1_31:190619005
xref: SNOMEDCT_2010_1_31:191081005
xref: UMLS_CUI:C0029665
is_obsolete: true

[Term]
id: DOID:10261
name: discharging ear
xref: ICD9CM:388.6
xref: ICD9CM:388.60
xref: NCI:C35199
xref: SNOMEDCT_2010_1_31:139633004
xref: SNOMEDCT_2010_1_31:155250006
xref: SNOMEDCT_2010_1_31:162364004
xref: SNOMEDCT_2010_1_31:194403000
xref: SNOMEDCT_2010_1_31:194405007
xref: SNOMEDCT_2010_1_31:267676003
xref: SNOMEDCT_2010_1_31:300132001
xref: SNOMEDCT_2010_1_31:65668001
xref: UMLS_CUI:C0155540
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:10263
name: Mumps virus hepatitis
def: "A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine." [url:url\:http\://www.ncbi.nlm.nih.gov/pubmed/13361586]
synonym: "Mumps hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:89231008]
xref: ICD9CM:072.71
xref: SNOMEDCT_2010_1_31:186649000
xref: SNOMEDCT_2010_1_31:89231008
xref: UMLS_CUI:C0153096
is_obsolete: true

[Term]
id: DOID:10264
name: mumps
def: "A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face." [url:http\://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf]
xref: ICD9CM:072
xref: MSH:D009107
xref: NCI:C29888
xref: SNOMEDCT_2010_1_31:154352008
xref: SNOMEDCT_2010_1_31:186651001
xref: SNOMEDCT_2010_1_31:186652008
xref: SNOMEDCT_2010_1_31:240526004
xref: SNOMEDCT_2010_1_31:36989005
xref: UMLS_CUI:C0026780
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10265
name: hairy cell leukemia of spleen
synonym: "Hairy cell leukemia of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93151007]
synonym: "Leukemic reticuloendotheliosis involving spleen" EXACT [ICD9CM_2006:202.47]
synonym: "Leukemic reticuloendotheliosis of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188651007]
xref: ICD9CM:202.47
xref: SNOMEDCT_2010_1_31:188651007
xref: SNOMEDCT_2010_1_31:93151007
xref: UMLS_CUI:C0153832
is_a: DOID:285 ! hairy cell leukemia

[Term]
id: DOID:10266
name: subendocardial infarction acute myocardial infarction
xref: ICD9CM:410.7
xref: UMLS_CUI:C0155655
is_a: DOID:9408 ! acute myocardial infarction

[Term]
id: DOID:10272
name: left bundle branch hemiblock
synonym: "Left bundle branch [block] or [hemiblock]" EXACT [SNOMEDCT_2005_07_31:195044001]
synonym: "Left bundle branch hemiblock (disorder)" EXACT [SNOMEDCT_2005_07_31:4973001]
synonym: "Left bundle branch hemiblock NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195045000]
xref: ICD9CM:426.2
xref: SNOMEDCT_2010_1_31:195044001
xref: SNOMEDCT_2010_1_31:195045000
xref: SNOMEDCT_2010_1_31:266245009
xref: SNOMEDCT_2010_1_31:4973001
xref: UMLS_CUI:C0155702
is_a: DOID:10273 ! heart conduction disease

[Term]
id: DOID:10273
name: heart conduction disease
def: "A cardiovascular system disease that involves the heart's electrical conduction system." [url:http\://en.wikipedia.org/wiki/Conduction_system_of_the_heart]
synonym: "heart rhythm disease" EXACT []
xref: ICD9CM:426.6
xref: SNOMEDCT_2010_1_31:195053008
xref: SNOMEDCT_2010_1_31:195056000
xref: UMLS_CUI:C0029630
is_a: DOID:1287 ! cardiovascular system disease

[Term]
id: DOID:10274
name: schizo-affective type schizophrenia in remission
xref: ICD9CM:295.75
xref: UMLS_CUI:C0154379
is_obsolete: true

[Term]
id: DOID:10277
name: Pseudomonas intestinal infectious disease
def: "A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess." [url:http\://emedicine.medscape.com/article/970904-overview]
subset: gram-negative_bacterial_infectious_disease
synonym: "intestinal infection due to Pseudomonas (disorder)" EXACT [SNOMEDCT_2005_07_31:82930004]
synonym: "intestinal infectious disease due to pseudomonas" EXACT []
xref: ICD9CM:008.42
xref: SNOMEDCT_2010_1_31:82930004
xref: UMLS_CUI:C0152515
is_obsolete: true

[Term]
id: DOID:10278
name: Vasa previa complicating labor and delivery
synonym: "Vasa previa complicating labor and delivery, unspecified as to episode of care" EXACT [ICD9CM_2006:663.50]
xref: ICD9CM:663.5
xref: ICD9CM:663.50
xref: UMLS_CUI:C0495270
is_obsolete: true

[Term]
id: DOID:10279
name: Vasa previa
synonym: "Vasa praevia" EXACT [SNOMEDCT_2005_07_31:199893002]
synonym: "Vasa previa (disorder)" EXACT [SNOMEDCT_2005_07_31:79668009]
synonym: "Vasa previa complicating labor and delivery, antepartum" EXACT [ICD9CM_2006:663.53]
synonym: "Vasa previa NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:199897001]
synonym: "Vasa previa unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:199894008]
xref: ICD9CM:663.53
xref: MSH:D055949
xref: NCI:C87127
xref: SNOMEDCT_2010_1_31:199893002
xref: SNOMEDCT_2010_1_31:199894008
xref: SNOMEDCT_2010_1_31:199897001
xref: SNOMEDCT_2010_1_31:79668009
xref: UMLS_CUI:C0269852
is_obsolete: true

[Term]
id: DOID:10280
name: Vasa previa complicating labor and delivery, delivered
xref: ICD9CM:663.51
xref: UMLS_CUI:C0157297
is_obsolete: true

[Term]
id: DOID:10283
name: prostate cancer
alt_id: DOID:514
def: "A male reproductive organ cancer that is located_in the prostate." [url:http\://www.cancer.gov/dictionary?CdrID=445079]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
subset: TopNodes_DOcancerslim
synonym: "hereditary prostate cancer" EXACT []
synonym: "malignant tumor of the prostate" EXACT [NCI2004_11_17:C7378]
synonym: "NGP - new growth of prostate" EXACT [SNOMEDCT_2005_07_31:363448003]
synonym: "prostate cancer, familial" EXACT [MSH:C537243]
synonym: "prostate neoplasm" EXACT [CSP2005:2016-2641]
synonym: "prostatic cancer" EXACT [CSP2005:2016-2641]
synonym: "prostatic neoplasm" EXACT []
synonym: "tumor of the prostate" EXACT [NCI2004_11_17:C3343]
xref: KEGG:05215
xref: MSH:C537243
xref: MSH:D011471
xref: NCI:C3343
xref: OMIM:176807
xref: OMIM:300147
xref: OMIM:300704
xref: OMIM:601518
xref: OMIM:602759
xref: OMIM:608656
xref: OMIM:608658
xref: OMIM:609299
xref: OMIM:609558
xref: OMIM:610321
xref: OMIM:610997
xref: OMIM:611100
xref: OMIM:611868
xref: OMIM:611928
xref: OMIM:611955
xref: OMIM:611958
xref: OMIM:611959
xref: OMIM:614761
xref: ORDO:1331
xref: SNOMEDCT_2010_1_31:126906006
xref: SNOMEDCT_2010_1_31:363448003
xref: SNOMEDCT_2010_1_31:399068003
xref: SNOMEDCT_2010_1_31:93974005
xref: UMLS_CUI:C0033578
xref: UMLS_CUI:C0376358
is_a: DOID:3856 ! male reproductive organ cancer

[Term]
id: DOID:10286
name: prostate carcinoma
def: "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma]
subset: DO_cancer_slim
synonym: "cancer of prostate" EXACT [NCI2004_11_17:C4863]
synonym: "cancer of prostate" EXACT [SNOMEDCT_2005_07_31:363448003]
synonym: "carcinoma OF PROSTATE" EXACT [MTH:612]
synonym: "carcinoma of prostate" EXACT [SNOMEDCT_2005_07_31:154531004]
synonym: "carcinoma of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:254900004]
xref: EFO:0001663
xref: KEGG:05215
xref: NCI:C4863
xref: SNOMEDCT_2010_1_31:154531004
xref: SNOMEDCT_2010_1_31:254900004
xref: SNOMEDCT_2010_1_31:363448003
xref: UMLS_CUI:C0600139
is_a: DOID:10283 ! prostate cancer

[Term]
id: DOID:10287
name: prostate squamous cell carcinoma
synonym: "squamous cell carcinoma of prostate" RELATED []
synonym: "squamous cell carcinoma of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:399590005]
synonym: "squamous cell carcinoma of the prostate" EXACT [NCI2004_11_17:C5536]
xref: NCI:C5536
xref: SNOMEDCT_2010_1_31:399590005
xref: UMLS_CUI:C1302530
is_a: DOID:10286 ! prostate carcinoma

[Term]
id: DOID:10288
name: metastasis to prostate
synonym: "metastatic neoplasm to the prostate" EXACT [NCI2004_11_17:C7080]
synonym: "secondary malignant neoplasm of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:94503003]
xref: NCI:C7080
xref: SNOMEDCT_2010_1_31:94503003
xref: UMLS_CUI:C0347001
is_obsolete: true

[Term]
id: DOID:10289
name: prostate malignant phyllodes tumor
synonym: "malignant Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C5531]
xref: MSH:C549759
xref: NCI:C5531
xref: UMLS_CUI:C1334615
is_a: DOID:10283 ! prostate cancer

[Term]
id: DOID:1029
name: familial periodic paralysis
xref: MSH:D010245
xref: NCI:C84709
xref: SNOMEDCT_2010_1_31:155099000
xref: SNOMEDCT_2010_1_31:193241004
xref: SNOMEDCT_2010_1_31:267607008
xref: SNOMEDCT_2010_1_31:267714003
xref: SNOMEDCT_2010_1_31:54696002
xref: UMLS_CUI:C0030443
is_a: DOID:423 ! myopathy
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:10290
name: prostate lymphoma
synonym: "lymphoma of prostate" EXACT []
synonym: "Lymphoma of the prostate" EXACT [NCI2004_11_17:C5533]
xref: NCI:C5533
xref: UMLS_CUI:C1335512
is_a: DOID:10283 ! prostate cancer

[Term]
id: DOID:10293
name: monocular esotropia
xref: ICD9CM:378.01
xref: MSH:D004948
xref: SNOMEDCT_2010_1_31:194075001
xref: SNOMEDCT_2010_1_31:5455000
xref: UMLS_CUI:C0152204
is_a: DOID:9840 ! esotropia

[Term]
id: DOID:10294
name: intermittent monocular esotropia
synonym: "Intermittent esotropia, monocular" EXACT [ICD9CM_2006:378.21]
synonym: "Intermittent monocular esotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194101008]
synonym: "Monocular intermittent esotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:31447006]
xref: ICD9CM:378.21
xref: SNOMEDCT_2010_1_31:194101008
xref: SNOMEDCT_2010_1_31:31447006
xref: UMLS_CUI:C0152211
is_obsolete: true

[Term]
id: DOID:10295
name: monocular esotropia with A pattern
synonym: "Monocular esotropia with A pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:58409000]
xref: ICD9CM:378.02
xref: SNOMEDCT_2010_1_31:194076000
xref: SNOMEDCT_2010_1_31:58409000
xref: UMLS_CUI:C0155322
is_obsolete: true

[Term]
id: DOID:10296
name: monocular esotropia with V pattern
synonym: "Monocular esotropia with V pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:65215002]
xref: ICD9CM:378.03
xref: SNOMEDCT_2010_1_31:194077009
xref: SNOMEDCT_2010_1_31:65215002
xref: UMLS_CUI:C0155323
is_obsolete: true

[Term]
id: DOID:10300
name: Raynaud disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Raynaud's disease" EXACT [CSP2005:0571-7333]
synonym: "Raynaud's disease" EXACT [MTH:639]
synonym: "Raynaud's disease" EXACT [MTHICD9_2006:443.0]
synonym: "Raynaud's disease" EXACT [NCI2004_11_17:C34972]
synonym: "Raynaud's disease" EXACT [SNOMEDCT_2005_07_31:123266007]
synonym: "Raynaud's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:195295006]
synonym: "Raynaud's syndrome" EXACT [ICD9CM_2006:443.0]
synonym: "Raynaud's syndrome" EXACT [SNOMEDCT_2005_07_31:155429004]
synonym: "Raynaud's syndrome" EXACT [SNOMEDCT_2005_07_31:266319002]
synonym: "Raynaud's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:195294005]
synonym: "Raynaud's syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:22954002]
synonym: "Raynaud's syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195297003]
xref: ICD9CM:443.0
xref: MSH:D011928
xref: NCI:C34972
xref: OMIM:179600
xref: SNOMEDCT_2010_1_31:123266007
xref: SNOMEDCT_2010_1_31:155429004
xref: SNOMEDCT_2010_1_31:195294005
xref: SNOMEDCT_2010_1_31:195295006
xref: SNOMEDCT_2010_1_31:195297003
xref: SNOMEDCT_2010_1_31:22954002
xref: SNOMEDCT_2010_1_31:266319002
xref: UMLS_CUI:C0034734
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:10301
name: parotitis
synonym: "Parotitis (disorder)" EXACT [SNOMEDCT_2005_07_31:14756005]
synonym: "Parotitis NOS" EXACT [MTHICD9_2006:527.2]
synonym: "Parotitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196484005]
xref: MSH:D010309
xref: SNOMEDCT_2010_1_31:14756005
xref: SNOMEDCT_2010_1_31:196481002
xref: SNOMEDCT_2010_1_31:196484005
xref: UMLS_CUI:C0030583
is_a: DOID:10302 ! parotid disease

[Term]
id: DOID:10302
name: parotid disease
xref: MSH:D010305
xref: UMLS_CUI:C0030579
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:10303
name: sialadenitis
synonym: "Sialoadenitis" EXACT [SNOMEDCT_2005_07_31:266494007]
xref: ICD9CM:527.2
xref: MSH:D012793
xref: NCI:C26882
xref: SNOMEDCT_2010_1_31:155655005
xref: SNOMEDCT_2010_1_31:196481002
xref: SNOMEDCT_2010_1_31:196490009
xref: SNOMEDCT_2010_1_31:266494007
xref: SNOMEDCT_2010_1_31:42982001
xref: UMLS_CUI:C0037023
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:10304
name: Mumps virus infectious disease
def: "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." [url:http\://www.expasy.org/viralzone/all_by_species/88.html]
synonym: "Rubulavirus infectious disease" EXACT []
xref: MSH:D019351
xref: SNOMEDCT_2010_1_31:407500007
xref: UMLS_CUI:C0376551
is_obsolete: true

[Term]
id: DOID:10305
name: Mumps virus orchitis
def: "A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001280.htm]
synonym: "Mumps orchitis (disorder)" EXACT [SNOMEDCT_2005_07_31:78580004]
xref: ICD9CM:072.0
xref: SNOMEDCT_2010_1_31:154353003
xref: SNOMEDCT_2010_1_31:78580004
xref: UMLS_CUI:C0153091
is_obsolete: true

[Term]
id: DOID:10307
name: Mumps virus polyneuritis
def: "A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness." [url:http\://www.merckmanuals.com/home/sec06/ch095/ch095h.html, url:http\://www.merckmanuals.com/professional/sec14/ch193/ch193d.html]
synonym: "Mumps polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:31524007]
synonym: "Polyneuropathy in mumps (disorder)" EXACT [SNOMEDCT_2005_07_31:193192002]
xref: ICD9CM:072.72
xref: SNOMEDCT_2010_1_31:193192002
xref: SNOMEDCT_2010_1_31:31524007
xref: UMLS_CUI:C0153097
is_obsolete: true

[Term]
id: DOID:10309
name: Mumps virus meningitis
def: "A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness." [url:http\://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784]
synonym: "Mumps meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:44201003]
xref: ICD9CM:072.1
xref: SNOMEDCT_2010_1_31:186645006
xref: SNOMEDCT_2010_1_31:44201003
xref: UMLS_CUI:C0153092
is_obsolete: true

[Term]
id: DOID:10310
name: viral meningitis
xref: ICD9CM:047.9
xref: MSH:D008587
xref: SNOMEDCT_2010_1_31:154321007
xref: SNOMEDCT_2010_1_31:154984006
xref: SNOMEDCT_2010_1_31:154985007
xref: SNOMEDCT_2010_1_31:186490006
xref: SNOMEDCT_2010_1_31:187403007
xref: SNOMEDCT_2010_1_31:192672003
xref: SNOMEDCT_2010_1_31:266097006
xref: SNOMEDCT_2010_1_31:266190006
xref: SNOMEDCT_2010_1_31:267575007
xref: SNOMEDCT_2010_1_31:267680008
xref: SNOMEDCT_2010_1_31:58170007
xref: UMLS_CUI:C0025297
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:10311
name: Mumps virus encephalitis
def: "A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5046780]
synonym: "Mumps encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:31646008]
xref: ICD9CM:072.2
xref: SNOMEDCT_2010_1_31:186646007
xref: SNOMEDCT_2010_1_31:31646008
xref: UMLS_CUI:C0153093
is_obsolete: true

[Term]
id: DOID:10312
name: Mumps virus pancreatitis
def: "A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting." [url:http\://emedicine.medscape.com/article/966678-overview]
synonym: "Mumps pancreatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:10665004]
xref: ICD9CM:072.3
xref: SNOMEDCT_2010_1_31:10665004
xref: UMLS_CUI:C0153094
is_obsolete: true

[Term]
id: DOID:10314
name: endocarditis
alt_id: DOID:14058
def: "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves." [url:http\://wn.wikipedia.org/wiki/Endocarditis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/endo/]
xref: MSH:D004696
xref: NCI:C34582
xref: SNOMEDCT_2010_1_31:194935007
xref: SNOMEDCT_2010_1_31:56819008
xref: SNOMEDCT_2010_1_31:91357005
xref: UMLS_CUI:C0014118
xref: UMLS_CUI:C0375268
is_a: DOID:0050825 ! endocardium disease

[Term]
id: DOID:10316
name: pneumoconiosis
def: "An interstitial lung disease that is caused by the inhalation of dust." [url:http\://en.wikipedia.org/wiki/Pneumoconiosis]
xref: ICD9CM:505
xref: MSH:D011009
xref: NCI:C26861
xref: SNOMEDCT_2010_1_31:155587002
xref: SNOMEDCT_2010_1_31:155591007
xref: SNOMEDCT_2010_1_31:196004000
xref: SNOMEDCT_2010_1_31:196016006
xref: SNOMEDCT_2010_1_31:266401007
xref: SNOMEDCT_2010_1_31:40122008
xref: UMLS_CUI:C0032273
is_a: DOID:3082 ! interstitial lung disease

[Term]
id: DOID:10319
name: mixed mineral dust pneumoconiosis
synonym: "mixed mineral dust pneumoconiosis (disorder)" EXACT [SNOMEDCT_2005_07_31:233759002]
xref: NCI:C27559
xref: SNOMEDCT_2010_1_31:233759002
xref: UMLS_CUI:C0340184
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10320
name: asbestosis
def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers." [url:http\://en.wikipedia.org/wiki/Asbestosis]
synonym: "Asbestosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196006003]
xref: CSP:2596-4484
xref: ICD10CM:J61
xref: ICD9CM:501
xref: MSH:D001195
xref: NCI:C84573
xref: SNOMEDCT_2010_1_31:155589004
xref: SNOMEDCT_2010_1_31:196006003
xref: SNOMEDCT_2010_1_31:22607003
xref: SNOMEDCT_2010_1_31:266400008
xref: UMLS_CUI:C0003949
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10321
name: baritosis
synonym: "Baritosis (disorder)" EXACT [SNOMEDCT_2005_07_31:50076003]
xref: MSH:C537080
xref: NCI:C34410
xref: SNOMEDCT_2010_1_31:50076003
xref: UMLS_CUI:C0340177
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10322
name: berylliosis
def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Berylliosis]
synonym: "Berylliosis (disorder)" EXACT [SNOMEDCT_2005_07_31:8247009]
synonym: "beryllium poisoning" EXACT [CSP2005:1858-2321]
xref: MSH:D001607
xref: SNOMEDCT_2010_1_31:8247009
xref: UMLS_CUI:C0005138
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10323
name: byssinosis
synonym: "Byssinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:85761009]
synonym: "cotton mill fever" EXACT [CSP2005:2596-2097]
synonym: "Flax-dressers' disease" EXACT [MTHICD9_2006:504]
synonym: "Flax-dressers' disease" EXACT [SNOMEDCT_2005_07_31:196014009]
synonym: "Stripper's asthma" EXACT [SNOMEDCT_2005_07_31:13151001]
xref: MSH:D002095
xref: NCI:C84605
xref: SNOMEDCT_2010_1_31:155589004
xref: SNOMEDCT_2010_1_31:233689004
xref: SNOMEDCT_2010_1_31:266400008
xref: SNOMEDCT_2010_1_31:85761009
xref: UMLS_CUI:C0006542
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10324
name: anthracosilicosis
xref: CSP:2596-4484
xref: MSH:D000874
xref: NCI:C34389
xref: SNOMEDCT_2010_1_31:33548005
xref: UMLS_CUI:C0003164
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10325
name: silicosis
alt_id: DOID:14007
def: "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Silicosis]
synonym: "Pneumoconiosis due to other silica or silicates" EXACT [ICD9CM_2006:502]
synonym: "Pneumoconiosis due to silica (disorder)" EXACT [SNOMEDCT_2005_07_31:805002]
synonym: "Pneumoconiosis due to silicates (disorder)" EXACT [SNOMEDCT_2005_07_31:83316006]
synonym: "Silica pneumoconiosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196010000]
synonym: "Silicotic fibrosis of lung" EXACT [MTHICD9_2006:502]
synonym: "silicotuberculosis" EXACT []
xref: ICD9CM:502
xref: MSH:D012829
xref: NCI:C3369
xref: SNOMEDCT_2010_1_31:155590008
xref: SNOMEDCT_2010_1_31:196010000
xref: SNOMEDCT_2010_1_31:805002
xref: UMLS_CUI:C0037116
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10326
name: Caplan's syndrome
def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis." [url:http\://en.wikipedia.org/wiki/Caplan%27s_syndrome, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000137.htm]
synonym: "Caplan syndrome" EXACT []
synonym: "Caplan's disease" EXACT []
synonym: "Caplans syndrome" EXACT [SNOMEDCT_2005_07_31:201813004]
synonym: "Rheumatoid pneumoconiosis" EXACT [SNOMEDCT_2005_07_31:111280008]
xref: MSH:D002205
xref: SNOMEDCT_2010_1_31:111280008
xref: SNOMEDCT_2010_1_31:201813004
xref: SNOMEDCT_2010_1_31:398640008
xref: UMLS_CUI:C0006915
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10327
name: anthracosis
synonym: "black lung" EXACT [CSP2005:2596-4484]
synonym: "Coal Miner's Pneumoconiosis" EXACT [NCI2004_11_17:C34390]
synonym: "Coal workers' lung" EXACT [MTHICD9_2006:500]
synonym: "Coal workers' pneumoconiosis" EXACT [ICD9CM_2006:500]
synonym: "Coal workers' pneumoconiosis" EXACT [SNOMEDCT_2005_07_31:155588007]
synonym: "Melanoedema" EXACT [SNOMEDCT_2005_07_31:29422001]
xref: ICD9CM:500
xref: MSH:D055008
xref: NCI:C34390
xref: SNOMEDCT_2010_1_31:155588007
xref: SNOMEDCT_2010_1_31:29422001
xref: UMLS_CUI:C0003165
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10328
name: siderosis
synonym: "pulmonary siderosis (disorder)" EXACT [SNOMEDCT_2005_07_31:62371005]
xref: MSH:D012806
xref: SNOMEDCT_2010_1_31:155591007
xref: SNOMEDCT_2010_1_31:266401007
xref: SNOMEDCT_2010_1_31:62371005
xref: UMLS_CUI:C0037061
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10329
name: pneumoconiosis due to talc
synonym: "Pneumoconiosis due to talc (disorder)" EXACT [SNOMEDCT_2005_07_31:73144008]
synonym: "Talc Pneumoconiosis" EXACT [NCI2004_11_17:C27026]
xref: NCI:C27026
xref: SNOMEDCT_2010_1_31:73144008
xref: UMLS_CUI:C0238377
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10330
name: slate pneumoconiosis
synonym: "Schistosis (disorder)" EXACT [SNOMEDCT_2005_07_31:1259003]
xref: NCI:C35397
xref: SNOMEDCT_2010_1_31:1259003
xref: UMLS_CUI:C0340186
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10331
name: kaolin pneumoconiosis
synonym: "Kaolinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:36696005]
xref: NCI:C35315
xref: SNOMEDCT_2010_1_31:36696005
xref: UMLS_CUI:C0264435
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10332
name: disorder of optic chiasm due to vascular disorder
synonym: "disorder of optic chiasm associated with vascular disorder" EXACT [ICD9CM_2006:377.53]
xref: ICD9CM:377.53
xref: SNOMEDCT_2010_1_31:194059004
xref: SNOMEDCT_2010_1_31:89654006
xref: UMLS_CUI:C0155310
is_obsolete: true

[Term]
id: DOID:10334
name: craniofacial abnormality
alt_id: DOID:1295
synonym: "Congenital abnormality of skull and face bones (disorder)" EXACT [SNOMEDCT_2005_07_31:268239009]
synonym: "Congenital anomalies of skull and face bones" EXACT [ICD9CM_2006:756.0]
synonym: "Skull and face &/or face bone anomalies" EXACT [SNOMEDCT_2005_07_31:205409008]
synonym: "Skull or face bone anomaly NOS" EXACT [SNOMEDCT_2005_07_31:205423005]
synonym: "Skull or face bone anomaly NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268269002]
xref: MSH:D019465
xref: SNOMEDCT_2010_1_31:205409008
xref: SNOMEDCT_2010_1_31:205423005
xref: SNOMEDCT_2010_1_31:268239009
xref: SNOMEDCT_2010_1_31:268269002
xref: UMLS_CUI:C0376634
xref: UMLS_CUI:C0495615
is_obsolete: true

[Term]
id: DOID:10337
name: glaucomatous atrophy of optic disc
synonym: "Glaucomatous atrophy [cupping] of optic disc" EXACT [ICD9CM_2006:377.14]
synonym: "Glaucomatous atrophy of optic disc (disorder)" EXACT [SNOMEDCT_2005_07_31:1207009]
synonym: "Glaucomatous cupping of optic disc" EXACT [MTHICD9_2006:377.14]
xref: ICD9CM:377.14
xref: SNOMEDCT_2010_1_31:1207009
xref: UMLS_CUI:C0271342
is_a: DOID:1686 ! glaucoma
is_a: DOID:5723 ! optic atrophy

[Term]
id: DOID:10338
name: subchronic schizophrenia
synonym: "subchronic Schizophrenia" EXACT [NCI2004_11_17:C35185]
synonym: "subchronic schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:16990005]
synonym: "Unspecified schizophrenia, subchronic state" EXACT [ICD9CM_2006:295.91]
xref: ICD9CM:295.91
xref: NCI:C35185
xref: SNOMEDCT_2010_1_31:16990005
xref: SNOMEDCT_2010_1_31:191529003
xref: UMLS_CUI:C0270381
is_obsolete: true

[Term]
id: DOID:10339
name: schizophrenia simplex
synonym: "simple schizophrenia" EXACT [CSP2005:2485-0932]
synonym: "simple schizophrenia" EXACT [SNOMEDCT_2005_07_31:154866008]
synonym: "simple schizophrenia" EXACT [SNOMEDCT_2005_07_31:192325006]
synonym: "simple schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191527001]
synonym: "simple schizophrenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191534004]
synonym: "simple type schizophrenia" EXACT [ICD9CM_2006:295.0]
synonym: "simple type Schizophrenia" EXACT [NCI2004_11_17:C35269]
synonym: "simple type schizophrenia, unspecified state" EXACT [ICD9CM_2006:295.00]
xref: ICD9CM:295.0
xref: ICD9CM:295.00
xref: NCI:C35269
xref: SNOMEDCT_2010_1_31:154866008
xref: SNOMEDCT_2010_1_31:191527001
xref: SNOMEDCT_2010_1_31:191534004
xref: SNOMEDCT_2010_1_31:192325006
xref: UMLS_CUI:C0221520
is_obsolete: true

[Term]
id: DOID:10340
name: residual subchronic schizophrenia
synonym: "Residual schizophrenia, subchronic state" EXACT [ICD9CM_2006:295.61]
synonym: "subchronic residual schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:76566000]
xref: ICD9CM:295.61
xref: NCI:C35183
xref: SNOMEDCT_2010_1_31:76566000
xref: UMLS_CUI:C0270406
is_obsolete: true

[Term]
id: DOID:10341
name: chronic meningitis
synonym: "chronic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:21664006]
xref: ICD9CM:322.2
xref: SNOMEDCT_2010_1_31:21664006
xref: UMLS_CUI:C0154653
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:10342
name: subchronic latent schizophrenia
synonym: "Latent schizophrenia, subchronic state" EXACT [ICD9CM_2006:295.51]
synonym: "Latent subchronic Schizophrenia" EXACT [NCI2004_11_17:C35181]
synonym: "subchronic latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191561004]
xref: ICD9CM:295.51
xref: NCI:C35181
xref: SNOMEDCT_2010_1_31:191561004
xref: UMLS_CUI:C0338810
is_obsolete: true

[Term]
id: DOID:10343
name: latent schizophrenia
synonym: "Latent schizophrenia" EXACT [SNOMEDCT_2005_07_31:192328008]
synonym: "Latent schizophrenia" EXACT [ICD9CM_2006:295.5]
synonym: "Latent Schizophrenia" EXACT [NCI2004_11_17:C34759]
synonym: "Latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191559008]
synonym: "Latent schizophrenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191566009]
synonym: "Latent schizophrenia, unspecified state" EXACT [ICD9CM_2006:295.50]
synonym: "Latent schizophrenic reaction" EXACT [MTHICD9_2006:295.5]
synonym: "Unspecified latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191560003]
xref: ICD9CM:295.5
xref: ICD9CM:295.50
xref: MSH:D012569
xref: NCI:C34759
xref: SNOMEDCT_2010_1_31:191559008
xref: SNOMEDCT_2010_1_31:191560003
xref: SNOMEDCT_2010_1_31:191566009
xref: SNOMEDCT_2010_1_31:192328008
xref: UMLS_CUI:C0023105
is_obsolete: true

[Term]
id: DOID:10348
name: blepharophimosis
xref: ICD9CM:374.46
xref: MSH:D016569
xref: UMLS_CUI:C0005744
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:10349
name: solitary cyst of breast
synonym: "Solitary cyst of breast" EXACT [ICD9CM_2006:610.0]
synonym: "Solitary cyst of breast" EXACT [SNOMEDCT_2005_07_31:198090005]
synonym: "Solitary cyst of breast" EXACT [SNOMEDCT_2005_07_31:270538000]
synonym: "Solitary cyst of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:266578003]
synonym: "Solitary Cyst of the breast" EXACT [NCI2004_11_17:C3378]
xref: ICD9CM:610.0
xref: NCI:C3378
xref: SNOMEDCT_2010_1_31:198090005
xref: SNOMEDCT_2010_1_31:266578003
xref: SNOMEDCT_2010_1_31:270538000
xref: UMLS_CUI:C0037619
is_a: DOID:10350 ! breast cyst

[Term]
id: DOID:1035
name: natural killer cell leukemia
synonym: "Aggressive NK-cell leukemia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128833001]
synonym: "large granular Lymphocyte Leukemia, NK-cell type" EXACT [NCI2004_11_17:C8647]
xref: NCI:C8647
xref: SNOMEDCT_2010_1_31:128833001
xref: UMLS_CUI:C1292777
is_a: DOID:1037 ! lymphoblastic leukemia

[Term]
id: DOID:10350
name: breast cyst
synonym: "Cyst of breast" EXACT [MTHICD9_2006:610.0]
synonym: "Cyst of breast" EXACT [SNOMEDCT_2005_07_31:270538000]
synonym: "Cyst of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:399294002]
synonym: "Cyst of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:56726003]
synonym: "Cyst of the breast" EXACT [NCI2004_11_17:C5315]
xref: MSH:D047688
xref: NCI:C5315
xref: SNOMEDCT_2010_1_31:270538000
xref: SNOMEDCT_2010_1_31:399294002
xref: SNOMEDCT_2010_1_31:56726003
xref: UMLS_CUI:C0006144
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:10351
name: mammary duct ectasia
synonym: "Comedomastitis" EXACT [MTHICD9_2006:610.4]
synonym: "Comedomastitis" EXACT [NCI2004_11_17:C3522]
synonym: "Mammary duct ectasia (disorder)" EXACT [SNOMEDCT_2005_07_31:22049009]
synonym: "Mammary duct ectasia [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:198093007]
xref: ICD9CM:610.4
xref: NCI:C3522
xref: SNOMEDCT_2010_1_31:198093007
xref: SNOMEDCT_2010_1_31:22049009
xref: UMLS_CUI:C0152442
is_obsolete: true

[Term]
id: DOID:10352
name: breast fibroadenosis
synonym: "Fibroadenosis - breast" EXACT [SNOMEDCT_2005_07_31:270893004]
synonym: "Fibroadenosis of breast" EXACT [ICD9CM_2006:610.2]
synonym: "Fibroadenosis of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:23260002]
synonym: "Fibroadenosis of breast NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198092002]
xref: ICD9CM:610.2
xref: SNOMEDCT_2010_1_31:198092002
xref: SNOMEDCT_2010_1_31:23260002
xref: SNOMEDCT_2010_1_31:270893004
xref: UMLS_CUI:C1305875
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:10353
name: fibrosclerosis of breast
synonym: "Fibrosclerosis of breast" EXACT [ICD9CM_2006:610.3]
synonym: "Fibrosclerosis of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:29070004]
synonym: "Fibrosis of the breast" EXACT [NCI2004_11_17:C3660]
xref: ICD9CM:610.3
xref: NCI:C3660
xref: SNOMEDCT_2010_1_31:29070004
xref: UMLS_CUI:C0156318
is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast

[Term]
id: DOID:10354
name: breast fibrocystic disease
synonym: "breast Fibrocystic Change" EXACT [NCI2004_11_17:C3039]
synonym: "Diffuse cystic mastopathy" EXACT [ICD9CM_2006:610.1]
synonym: "Diffuse cystic mastopathy" EXACT [SNOMEDCT_2005_07_31:237436008]
synonym: "Fibrocystic disease of breast" EXACT [MTH:119]
synonym: "FIBROcystic DISEASE OF breast" EXACT [MTH:302]
synonym: "Fibrocystic disease of breast" EXACT [MTHICD9_2006:610.1]
synonym: "Fibrocystic disease of breast" EXACT [SNOMEDCT_2005_07_31:198091009]
synonym: "Fibrocystic disease of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:27431007]
xref: ICD9CM:610.1
xref: MSH:D005348
xref: NCI:C3039
xref: SNOMEDCT_2010_1_31:198091009
xref: SNOMEDCT_2010_1_31:237436008
xref: SNOMEDCT_2010_1_31:27431007
xref: UMLS_CUI:C0016034
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:1036
name: chronic leukemia
def: "A leukemia that develops slowly." [url:http\://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html]
synonym: "adult chronic leukemia" RELATED []
synonym: "CLL" RELATED []
synonym: "CML" RELATED []
xref: UMLS_CUI:C0085670
is_a: DOID:1240 ! leukemia

[Term]
id: DOID:10361
name: eosinophilic meningitis
synonym: "Eosinophilic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:25671008]
xref: ICD9CM:322.1
xref: SNOMEDCT_2010_1_31:25671008
xref: UMLS_CUI:C0154652
is_a: DOID:10341 ! chronic meningitis

[Term]
id: DOID:10366
name: epididymis cancer
synonym: "malignant Epididymal tumor" EXACT [NCI2004_11_17:C3558]
synonym: "malignant neoplasm of epididymis" EXACT [ICD9CM_2006:187.5]
synonym: "malignant neoplasm of epididymis" EXACT [SNOMEDCT_2005_07_31:93783009]
synonym: "malignant tumor of epididymis (disorder)" EXACT [SNOMEDCT_2005_07_31:363452003]
xref: ICD9CM:187.5
xref: NCI:C3558
xref: SNOMEDCT_2010_1_31:363452003
xref: SNOMEDCT_2010_1_31:93783009
xref: UMLS_CUI:C0153602
is_a: DOID:3856 ! male reproductive organ cancer

[Term]
id: DOID:10367
name: metastatic tumor to the epididymis
synonym: "metastatic neoplasm to the Epididymis" EXACT [NCI2004_11_17:C8544]
synonym: "secondary malignant neoplasm of epididymis (disorder)" EXACT [SNOMEDCT_2005_07_31:94283001]
xref: NCI:C8544
xref: SNOMEDCT_2010_1_31:94283001
xref: UMLS_CUI:C0347004
is_obsolete: true

[Term]
id: DOID:10368
name: epididymis adenocarcinoma
def: "An epididymis cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]
synonym: "adenocarcinoma of the epididymis" RELATED []
xref: NCI:C39957
xref: UMLS_CUI:C1510784
is_a: DOID:10366 ! epididymis cancer

[Term]
id: DOID:1037
name: lymphoblastic leukemia
def: "A leukemia that has_material_basis_in lymphoblasts (immature white blood cells)." [url:http\://www.cancer.gov/dictionary?CdrID=616067]
subset: DO_cancer_slim
xref: ICD9CM:204
xref: ICD9CM:204.9
xref: MSH:D007945
xref: NCI:C7539
xref: SNOMEDCT_2010_1_31:154587007
xref: SNOMEDCT_2010_1_31:188725004
xref: SNOMEDCT_2010_1_31:188731001
xref: SNOMEDCT_2010_1_31:190033006
xref: SNOMEDCT_2010_1_31:269631008
xref: SNOMEDCT_2010_1_31:32280000
xref: SNOMEDCT_2010_1_31:93170002
xref: UMLS_CUI:C0023448
is_a: DOID:1240 ! leukemia

[Term]
id: DOID:10371
name: yaws
def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." [url:http\://en.wikipedia.org/wiki/Yaws, url:http\://www.who.int/mediacentre/factsheets/fs316/en/]
subset: gram-negative_bacterial_infectious_disease
synonym: "Bouba" EXACT []
synonym: "frambesia" EXACT []
synonym: "frambesia tropica" EXACT []
synonym: "frambosie" EXACT []
synonym: "polypapilloma tropicum" EXACT []
synonym: "thymosis" EXACT []
xref: ICD9CM:102
xref: ICD9CM:102.9
xref: MSH:D015001
xref: NCI:C41353
xref: SNOMEDCT_2010_1_31:154391003
xref: SNOMEDCT_2010_1_31:186974004
xref: SNOMEDCT_2010_1_31:187372000
xref: SNOMEDCT_2010_1_31:266213004
xref: SNOMEDCT_2010_1_31:70647001
xref: UMLS_CUI:C0043388
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:10375
name: suppression amblyopia
synonym: "Strabismic amblyopia" EXACT [ICD9CM_2006:368.01]
synonym: "Strabismic amblyopia (disorder)" EXACT [SNOMEDCT_2005_07_31:35600002]
synonym: "Suppression amblyopia" EXACT [MTHICD9_2006:368.01]
xref: ICD9CM:368.01
xref: MSH:D000550
xref: SNOMEDCT_2010_1_31:35600002
xref: UMLS_CUI:C0750903
is_a: DOID:10376 ! amblyopia

[Term]
id: DOID:10376
name: amblyopia
xref: CSP:1114-9655
xref: ICD9CM:368.00
xref: MSH:D000550
xref: SNOMEDCT_2010_1_31:111517004
xref: SNOMEDCT_2010_1_31:155145007
xref: SNOMEDCT_2010_1_31:193637007
xref: SNOMEDCT_2010_1_31:267627009
xref: SNOMEDCT_2010_1_31:267726008
xref: SNOMEDCT_2010_1_31:387742006
xref: UMLS_CUI:C0002418
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:10377
name: ametropic amblyopia
synonym: "Refractive amblyopia" EXACT [ICD9CM_2006:368.03]
synonym: "Refractive amblyopia (disorder)" EXACT [SNOMEDCT_2005_07_31:90927000]
xref: ICD9CM:368.03
xref: SNOMEDCT_2010_1_31:90927000
xref: UMLS_CUI:C0152190
is_a: DOID:10376 ! amblyopia

[Term]
id: DOID:10378
name: disuse amblyopia
synonym: "Deprivation amblyopia" EXACT [ICD9CM_2006:368.02]
synonym: "Deprivation amblyopia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:21457000]
xref: ICD9CM:368.02
xref: SNOMEDCT_2010_1_31:193638002
xref: SNOMEDCT_2010_1_31:21457000
xref: UMLS_CUI:C0152189
is_a: DOID:10376 ! amblyopia

[Term]
id: DOID:1038
name: mature T-cell neoplasm
xref: NCI:C27909
xref: UMLS_CUI:C1334640
is_obsolete: true

[Term]
id: DOID:10380
name: precipitate labor
alt_id: DOID:10379
alt_id: DOID:14438
synonym: "Precipitate labor, antepartum" EXACT []
synonym: "Precipitate labor, with delivery" EXACT []
xref: ICD9CM:661.30
xref: UMLS_CUI:C0157248
is_obsolete: true

[Term]
id: DOID:10381
name: staphylococcal meningitis
subset: gram-positive_bacterial_infectious_disease
synonym: "Staphylococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:12166008]
xref: ICD9CM:320.3
xref: SNOMEDCT_2010_1_31:12166008
xref: UMLS_CUI:C0154640
is_obsolete: true

[Term]
id: DOID:10383
name: amyotrophic neuralgia
comment: OMIM mapping confirmed by DO. [SN].
synonym: "neuralgic amyotrophy" EXACT [ICD9CM_2006:353.5]
synonym: "neuralgic amyotrophy" EXACT [SNOMEDCT_2005_07_31:193113006]
synonym: "neuralgic amyotrophy" EXACT [SNOMEDCT_2005_07_31:3548001]
synonym: "neuralgic amyotrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:26609002]
xref: ICD9CM:353.5
xref: MSH:D020968
xref: OMIM:162100
xref: SNOMEDCT_2010_1_31:193113006
xref: SNOMEDCT_2010_1_31:26609002
xref: SNOMEDCT_2010_1_31:3548001
xref: UMLS_CUI:C1510479
is_a: DOID:3690 ! brachial plexus neuropathy

[Term]
id: DOID:10384
name: papilledema associated with decreased ocular pressure
synonym: "Papilledema associated with decreased ocular pressure (disorder)" EXACT [SNOMEDCT_2005_07_31:79155000]
xref: UMLS_CUI:C0155289
is_obsolete: true

[Term]
id: DOID:1039
name: prolymphocytic leukemia
xref: MSH:D015463
xref: NCI:C3181
xref: SNOMEDCT_2010_1_31:10300002
xref: SNOMEDCT_2010_1_31:110006004
xref: SNOMEDCT_2010_1_31:128923008
xref: UMLS_CUI:C0023486
is_a: DOID:1040 ! chronic lymphocytic leukemia

[Term]
id: DOID:10393
name: secondary hypertrophic osteoarthropathy
synonym: "Bamberger-Marie disease" EXACT [MTHICD9_2006:731.2]
synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [SNOMEDCT_2005_07_31:203357004]
synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [ICD9CM_2006:731.2]
synonym: "hypertrophic pulmonary osteoarthropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:222712005]
synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:46922002]
synonym: "Marie Bamberger disease" EXACT [CSP2005:2715-1220]
xref: ICD9CM:731.2
xref: MSH:D010005
xref: SNOMEDCT_2010_1_31:203357004
xref: SNOMEDCT_2010_1_31:222712005
xref: SNOMEDCT_2010_1_31:46922002
xref: UMLS_CUI:C0029412
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:10398
name: pneumonic plague
alt_id: DOID:10401
alt_id: DOID:10402
def: "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing." [url:http\://emedicine.medscape.com/article/829233-overview#a0104, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "primary pneumonic plague" EXACT []
synonym: "secondary pneumonic plague" EXACT []
xref: ICD9CM:020.3
xref: SNOMEDCT_2010_1_31:186283004
xref: SNOMEDCT_2010_1_31:35339003
xref: SNOMEDCT_2010_1_31:38976008
xref: SNOMEDCT_2010_1_31:67525007
xref: UMLS_CUI:C0152937
xref: UMLS_CUI:C0152938
xref: UMLS_CUI:C0524688
is_a: DOID:3482 ! plague

[Term]
id: DOID:10399
name: seminal vesicle chronic gonorrhea
synonym: "chronic gonococcal seminal vesiculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:23975003]
synonym: "Gonococcal seminal vesiculitis, chronic" EXACT [ICD9CM_2006:098.34]
xref: ICD9CM:098.34
xref: SNOMEDCT_2010_1_31:23975003
xref: UMLS_CUI:C0153205
is_a: DOID:10400 ! gonococcal seminal vesiculitis

[Term]
id: DOID:104
name: bacterial infectious disease
def: "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria." [url:http\://en.wikipedia.org/wiki/Pathogenic_bacteria]
xref: MSH:D001424
xref: NCI:C2890
xref: SNOMEDCT_2010_1_31:154311004
xref: SNOMEDCT_2010_1_31:154317000
xref: SNOMEDCT_2010_1_31:154318005
xref: SNOMEDCT_2010_1_31:186335000
xref: SNOMEDCT_2010_1_31:186406007
xref: SNOMEDCT_2010_1_31:186470002
xref: SNOMEDCT_2010_1_31:186472005
xref: SNOMEDCT_2010_1_31:187314009
xref: SNOMEDCT_2010_1_31:187346009
xref: SNOMEDCT_2010_1_31:187347000
xref: SNOMEDCT_2010_1_31:266182006
xref: SNOMEDCT_2010_1_31:266187000
xref: SNOMEDCT_2010_1_31:301811001
xref: SNOMEDCT_2010_1_31:87628006
xref: UMLS_CUI:C0004623
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:1040
name: chronic lymphocytic leukemia
def: "A lymphoblastic leukemia characterized_by over production of B-cells and their accumulation in bone marrow and blood." [url:http\://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=346545]
comment: Xref MGI.
synonym: "B-cell chronic lymphocytic leukemia" EXACT []
synonym: "B-cell chronic lymphoid leukemia" RELATED []
synonym: "chronic lymphatic leukemia" EXACT []
synonym: "CLL" EXACT []
synonym: "lymphoplasmacytic leukemia" EXACT []
xref: EFO:0000095
xref: ICD10CM:C91.1
xref: MSH:D015451
xref: OMIM:109543
xref: OMIM:151400
xref: OMIM:609630
xref: OMIM:612557
xref: OMIM:612558
xref: OMIM:612559
xref: ORDO:67038
xref: UMLS_CUI:C0023458
is_a: DOID:1037 ! lymphoblastic leukemia

[Term]
id: DOID:10400
name: gonococcal seminal vesiculitis
synonym: "Gonococcal seminal vesiculitis (acute)" EXACT [ICD9CM_2006:098.14]
synonym: "Gonococcal seminal vesiculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:301990003]
synonym: "Gonorrhea of seminal vesicle" EXACT [MTHICD9_2006:098.14]
xref: ICD9CM:098.14
xref: SNOMEDCT_2010_1_31:301990003
xref: UMLS_CUI:C0578661
is_a: DOID:9365 ! vesiculitis

[Term]
id: DOID:1042
name: Generalized infection during labor
alt_id: DOID:10262
alt_id: DOID:1041
synonym: "antepartum generalized infection during labor" EXACT []
synonym: "Generalized infection during labor, delivered" EXACT []
xref: ICD9CM:659.3
xref: SNOMEDCT_2010_1_31:66844003
xref: UMLS_CUI:C0157179
is_obsolete: true

[Term]
id: DOID:10423
name: acute pericementitis
synonym: "acute pericementitis (disorder)" EXACT [SNOMEDCT_2005_07_31:196362006]
synonym: "acute periodontitis" EXACT [ICD9CM_2006:523.3]
synonym: "acute Periodontitis" EXACT [NCI2004_11_17:C34354]
synonym: "acute periodontitis" EXACT [SNOMEDCT_2005_07_31:155646007]
synonym: "acute periodontitis" EXACT [SNOMEDCT_2005_07_31:196361004]
synonym: "acute periodontitis (disorder)" EXACT [SNOMEDCT_2005_07_31:21638000]
synonym: "acute periodontitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196364007]
xref: ICD9CM:523.3
xref: ICD9CM:523.33
xref: NCI:C34354
xref: SNOMEDCT_2010_1_31:155646007
xref: SNOMEDCT_2010_1_31:196361004
xref: SNOMEDCT_2010_1_31:196362006
xref: SNOMEDCT_2010_1_31:196364007
xref: SNOMEDCT_2010_1_31:21638000
xref: UMLS_CUI:C0001342
is_a: DOID:824 ! periodontitis

[Term]
id: DOID:10426
name: Klippel-Feil syndrome
alt_id: DOID:14747
def: "A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra." [url:http\://emedicine.medscape.com/article/1264848-overview, url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, url:http\://www.healthline.com/galecontent/klippel-feil-syndrome, url:http\://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, url:http\://www.wheelessonline.com/ortho/klippel_feil_syndrome]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "autosomal dominant Klippel-Feil syndrome" EXACT []
synonym: "congenital dystrophia brevicollis" EXACT [SNOMEDCT_2005_07_31:388981000]
synonym: "congenital synostosis of cervical vertebrae" EXACT []
synonym: "Klippel-Feil and Turner syndrome" EXACT [SNOMEDCT_2005_07_31:129581007]
synonym: "Klippel-Feil deformity, deafness and facial asymmetry" EXACT []
xref: ICD10CM:Q76.1
xref: ICD9CM:756.16
xref: MSH:D007714
xref: OMIM:118100
xref: OMIM:214300
xref: OMIM:600156
xref: OMIM:606874
xref: OMIM:606875
xref: OMIM:608462
xref: OMIM:611644
xref: OMIM:613702
xref: ORDO:2345
xref: SNOMEDCT_2010_1_31:129581007
xref: SNOMEDCT_2010_1_31:157003009
xref: SNOMEDCT_2010_1_31:205441002
xref: SNOMEDCT_2010_1_31:268349005
xref: SNOMEDCT_2010_1_31:388981000
xref: SNOMEDCT_2010_1_31:5601008
xref: UMLS_CUI:C0022738
xref: UMLS_CUI:C0220688
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:10428
name: stable condition keratoconus
synonym: "Keratoconus, stable condition (disorder)" EXACT [SNOMEDCT_2005_07_31:193844000]
synonym: "Stable condition keratoconus (disorder)" EXACT [SNOMEDCT_2005_07_31:75253008]
xref: ICD9CM:371.61
xref: SNOMEDCT_2010_1_31:193844000
xref: SNOMEDCT_2010_1_31:75253008
xref: UMLS_CUI:C0155131
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:10435
name: purulent acute otitis media
def: "A suppurative otitis media with sudden onset and a short course." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false]
xref: ICD9CM:382.02
xref: UMLS_CUI:C0155439
is_a: DOID:11506 ! suppurative otitis media

[Term]
id: DOID:10437
name: metastasis to lymph node
xref: ICD9CM:196.0
xref: SNOMEDCT_2010_1_31:188380009
xref: SNOMEDCT_2010_1_31:188392009
xref: UMLS_CUI:C0153668
is_obsolete: true

[Term]
id: DOID:10439
name: Mooren's ulcer
synonym: "Mooren ulcer" EXACT []
synonym: "Mooren's ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:22440001]
xref: ICD9CM:370.07
xref: SNOMEDCT_2010_1_31:22440001
xref: UMLS_CUI:C0155072
is_a: DOID:8463 ! corneal ulcer

[Term]
id: DOID:1044
name: nontraumatic rupture of muscle
synonym: "Non-traumatic muscle tear" EXACT [SNOMEDCT_2005_07_31:156729009]
synonym: "Non-traumatic muscle tear" EXACT [SNOMEDCT_2005_07_31:268106003]
synonym: "Nontraumatic rupture of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:29191005]
synonym: "Rupture of muscle, nontraumatic" EXACT [ICD9CM_2006:728.83]
xref: ICD9CM:728.83
xref: SNOMEDCT_2010_1_31:156729009
xref: SNOMEDCT_2010_1_31:268106003
xref: SNOMEDCT_2010_1_31:29191005
xref: UMLS_CUI:C0158363
is_obsolete: true

[Term]
id: DOID:10440
name: mycotic corneal ulcer
synonym: "Mycotic corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:397977001]
synonym: "Mycotic corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:59939007]
xref: ICD9CM:370.05
xref: SNOMEDCT_2010_1_31:397977001
xref: SNOMEDCT_2010_1_31:59939007
xref: UMLS_CUI:C0155071
is_a: DOID:8463 ! corneal ulcer

[Term]
id: DOID:10441
name: marginal corneal ulcer
synonym: "Marginal corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:47398006]
xref: ICD9CM:370.01
xref: SNOMEDCT_2010_1_31:47398006
xref: UMLS_CUI:C0155067
is_a: DOID:8463 ! corneal ulcer

[Term]
id: DOID:10442
name: hypopyon ulcer
synonym: "Hypopyon ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:6395007]
xref: ICD9CM:370.04
xref: SNOMEDCT_2010_1_31:193762002
xref: SNOMEDCT_2010_1_31:267633000
xref: SNOMEDCT_2010_1_31:6395007
xref: UMLS_CUI:C0155070
is_a: DOID:10443 ! hypopyon
is_a: DOID:8463 ! corneal ulcer

[Term]
id: DOID:10443
name: hypopyon
synonym: "Hypopyon (disorder)" EXACT [SNOMEDCT_2005_07_31:87807004]
xref: ICD9CM:364.05
xref: NCI:C50593
xref: SNOMEDCT_2010_1_31:87807004
xref: UMLS_CUI:C0020641
is_a: DOID:9383 ! iridocyclitis

[Term]
id: DOID:10444
name: ring corneal ulcer
synonym: "Ring corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:111520007]
xref: ICD9CM:370.02
xref: SNOMEDCT_2010_1_31:111520007
xref: SNOMEDCT_2010_1_31:193760005
xref: UMLS_CUI:C0155068
is_a: DOID:8463 ! corneal ulcer

[Term]
id: DOID:10445
name: perforated corneal ulcer
synonym: "Perforated corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:46606001]
xref: ICD9CM:370.06
xref: SNOMEDCT_2010_1_31:46606001
xref: UMLS_CUI:C0151844
is_a: DOID:8463 ! corneal ulcer

[Term]
id: DOID:10447
name: thyroid dysfunction complicating pregnancy, childbirth, or the puerperium
alt_id: DOID:10446
alt_id: DOID:14076
alt_id: DOID:14077
synonym: "antepartum thyroid dysfunction" EXACT []
synonym: "postpartum thyroid dysfunction" EXACT []
synonym: "Thyroid dysfunction of mother, with delivery" EXACT []
xref: ICD9CM:648.10
xref: UMLS_CUI:C0156837
is_obsolete: true

[Term]
id: DOID:1045
name: fascia disease
xref: ICD9CM:728.7
xref: ICD9CM:728.79
xref: UMLS_CUI:C0079954
is_obsolete: true

[Term]
id: DOID:10456
name: tonsillitis
alt_id: DOID:10454
alt_id: DOID:13751
def: "An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur." [url:http\://en.wikipedia.org/wiki/Tonsillitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis]
synonym: "chronic tonsillitis" EXACT []
synonym: "chronic tonsillitis (disorder)" EXACT [SNOMEDCT_2005_07_31:90979004]
synonym: "Throat infection - tonsillitis" EXACT [SNOMEDCT_2005_07_31:195665006]
synonym: "Tonsillitis (disorder)" EXACT [SNOMEDCT_2005_07_31:90176007]
synonym: "Tonsillitis, NOS" EXACT [MTHICD9_2006:463]
xref: MSH:D014069
xref: SNOMEDCT_2010_1_31:155530006
xref: SNOMEDCT_2010_1_31:195665006
xref: SNOMEDCT_2010_1_31:195794009
xref: SNOMEDCT_2010_1_31:90176007
xref: SNOMEDCT_2010_1_31:90979004
xref: UMLS_CUI:C0040425
xref: UMLS_CUI:C0149517
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:10457
name: Legionnaires' disease
def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." [url:http\://en.wikipedia.org/wiki/Legionellosis]
subset: gram-negative_bacterial_infectious_disease
synonym: "(Legionella) or (Legionnaire's disease)" EXACT [SNOMEDCT_2005_07_31:266186009]
synonym: "Infection by Legionella pneumophilia (disorder)" EXACT [SNOMEDCT_2005_07_31:269574000]
synonym: "Legionella pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:195889001]
xref: ICD9CM:482.84
xref: MSH:D007877
xref: SNOMEDCT_2010_1_31:154315008
xref: SNOMEDCT_2010_1_31:195889001
xref: SNOMEDCT_2010_1_31:266186009
xref: SNOMEDCT_2010_1_31:269574000
xref: SNOMEDCT_2010_1_31:312403005
xref: SNOMEDCT_2010_1_31:74881002
xref: UMLS_CUI:C0023241
is_a: DOID:10458 ! legionellosis

[Term]
id: DOID:10458
name: legionellosis
def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." [url:http\://en.wikipedia.org/wiki/Legionellosis, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm]
subset: gram-negative_bacterial_infectious_disease
synonym: "Legionella infection (disorder)" EXACT [SNOMEDCT_2005_07_31:26726000]
xref: MSH:D007876
xref: SNOMEDCT_2010_1_31:26726000
xref: UMLS_CUI:C0023240
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:10459
name: common cold
def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold]
synonym: "acute coryza" EXACT []
synonym: "acute Nasopharyngitis" EXACT [NCI2004_11_17:C34500]
synonym: "acute nasopharyngitis [common cold]" EXACT [ICD9CM_2006:460]
synonym: "acute rhinitis" EXACT [SNOMEDCT_2005_07_31:232341009]
synonym: "Acute viral rhinopharyngitis" EXACT []
synonym: "Nasopharyngitis - acute" EXACT [SNOMEDCT_2005_07_31:266377009]
synonym: "Nasopharyngitis, acute" EXACT [MTHICD9_2006:460]
synonym: "rhino-sinusitis" EXACT []
xref: ICD9CM:460
xref: MSH:D003139
xref: NCI:C34500
xref: NCI:C78599
xref: SNOMEDCT_2010_1_31:155497009
xref: SNOMEDCT_2010_1_31:195648002
xref: SNOMEDCT_2010_1_31:232341009
xref: SNOMEDCT_2010_1_31:232342002
xref: SNOMEDCT_2010_1_31:266377009
xref: SNOMEDCT_2010_1_31:54150009
xref: SNOMEDCT_2010_1_31:82272006
xref: UMLS_CUI:C0009443
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:10460
name: nasopharyngitis
alt_id: DOID:11587
def: "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx." [url:http\://medical-dictionary.thefreedictionary.com/nasopharyngitis, url:http\://www.merriam-webster.com/medical/nasopharyngitis]
synonym: "chronic nasopharyngitis" EXACT []
synonym: "chronic nasopharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:47841006]
synonym: "Nasopharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:51476001]
synonym: "Nasopharyngitis NOS" EXACT [MTHICD9_2006:460]
xref: MSH:D009304
xref: NCI:C34837
xref: SNOMEDCT_2010_1_31:155524006
xref: SNOMEDCT_2010_1_31:47841006
xref: SNOMEDCT_2010_1_31:51476001
xref: UMLS_CUI:C0027441
xref: UMLS_CUI:C0155826
is_a: DOID:9561 ! nasopharyngeal disease

[Term]
id: DOID:10461
name: dentin caries
synonym: "Compound dental caries (disorder)" EXACT [SNOMEDCT_2005_07_31:50047001]
synonym: "Dental caries extending into dentine" EXACT [ICD9CM_2006:521.02]
synonym: "Dentin caries, NOS" EXACT [SNOMEDCT_2005_07_31:44828002]
xref: ICD9CM:521.02
xref: SNOMEDCT_2010_1_31:442551007
xref: SNOMEDCT_2010_1_31:44828002
xref: SNOMEDCT_2010_1_31:50047001
xref: UMLS_CUI:C0266846
is_a: DOID:216 ! dental caries

[Term]
id: DOID:10469
name: diabetes mellitus juvenile type, uncontrolled, with neurological manifestations
synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations" EXACT [ICD9CM_2006:250.63]
xref: ICD9CM:250.63
xref: UMLS_CUI:C0375140
is_obsolete: true

[Term]
id: DOID:1047
name: Mental disorder complicating pregnancy, childbirth, or the puerperium
alt_id: DOID:1046
alt_id: DOID:10663
alt_id: DOID:10664
alt_id: DOID:10665
alt_id: DOID:12734
alt_id: DOID:14128
alt_id: DOID:9701
synonym: "Mental disorder of mother, antepartum" EXACT []
synonym: "Mental disorder of mother, with delivery" EXACT []
synonym: "peripheral neuritis antepartum" EXACT []
synonym: "peripheral neuritis in pregnancy, with delivery" EXACT []
synonym: "peripheral neuritis postpartum" EXACT []
synonym: "postpartum edema or excessive weight gain" EXACT []
synonym: "postpartum mental disorder of mother" EXACT []
xref: ICD9CM:646.14
xref: UMLS_CUI:C0156733
is_obsolete: true

[Term]
id: DOID:10471
name: patellar tendinitis
synonym: "Patellar tendonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:37785001]
xref: ICD9CM:726.64
xref: SNOMEDCT_2010_1_31:156662006
xref: SNOMEDCT_2010_1_31:268089006
xref: SNOMEDCT_2010_1_31:37785001
xref: UMLS_CUI:C0158317
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:10472
name: candidal pneumonia
def: "A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/]
synonym: "Candidiasis of lung" EXACT [ICD9CM_2006:112.4]
xref: ICD9CM:112.4
xref: SNOMEDCT_2010_1_31:187019005
xref: SNOMEDCT_2010_1_31:3487004
xref: UMLS_CUI:C0153251
is_obsolete: true

[Term]
id: DOID:10473
name: wrist or carpus enthesopathy
synonym: "Enthesopathy of the wrist and carpus (disorder)" EXACT [SNOMEDCT_2005_07_31:202859000]
synonym: "Enthesopathy of wrist and carpus" EXACT [ICD9CM_2006:726.4]
synonym: "Enthesopathy of wrist and/or carpus (disorder)" EXACT [SNOMEDCT_2005_07_31:33439002]
synonym: "Wrist or carpus enthesopathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:202860005]
xref: ICD9CM:726.4
xref: SNOMEDCT_2010_1_31:202859000
xref: SNOMEDCT_2010_1_31:202860005
xref: SNOMEDCT_2010_1_31:33439002
xref: UMLS_CUI:C0158311
is_obsolete: true

[Term]
id: DOID:10480
name: diaphragmatic eventration
xref: MSH:D003965
xref: SNOMEDCT_2010_1_31:157006001
xref: SNOMEDCT_2010_1_31:268351009
xref: SNOMEDCT_2010_1_31:34168003
xref: UMLS_CUI:C0011981
is_a: DOID:10481 ! diaphragm disease

[Term]
id: DOID:10481
name: diaphragm disease
def: "A muscular disease that is located_in the diaphragm." [url:http\://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm]
xref: ICD9CM:519.4
xref: SNOMEDCT_2010_1_31:196182001
xref: SNOMEDCT_2010_1_31:48475001
xref: UMLS_CUI:C0152097
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:10483
name: hypertonic, incoordinate, or prolonged uterine contractions
alt_id: DOID:10482
alt_id: DOID:11860
xref: ICD9CM:661.40
xref: UMLS_CUI:C0157252
is_obsolete: true

[Term]
id: DOID:10485
name: esophageal atresia
synonym: "Congenital atresia of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:26179002]
synonym: "Congenital imperforate esophagus" EXACT [MTHICD9_2006:750.3]
synonym: "Imperforate esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:204656005]
synonym: "Oesophageal atresia" EXACT [SNOMEDCT_2005_07_31:156947007]
xref: MSH:D004933
xref: NCI:C87072
xref: SNOMEDCT_2010_1_31:156947007
xref: SNOMEDCT_2010_1_31:204656005
xref: SNOMEDCT_2010_1_31:26179002
xref: UMLS_CUI:C0014850
is_a: DOID:6050 ! esophageal disease

[Term]
id: DOID:10486
name: intestinal atresia
xref: MSH:D007409
xref: NCI:C84790
xref: UMLS_CUI:C0021828
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10487
name: Hirschsprung's disease
def: "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/, url:http\://en.wikipedia.org/wiki/Hirschsprung%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001140.htm, url:http\://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "aganglionic megacolon" EXACT [NCI2004_11_17:C34700]
synonym: "congenital megacolon" EXACT []
synonym: "Hirschsprung disease" EXACT []
synonym: "macrocolon" EXACT [SNOMEDCT_2005_07_31:204744001]
synonym: "pelvirectal achalasia" EXACT [CSP2005:0724-7702]
synonym: "total intestinal aganglionosis" EXACT []
xref: EFOpat_id:647
xref: ICD10CM:Q43.1
xref: ICD9CM:751.3
xref: MSH:D006627
xref: NCI:C34700
xref: OMIM:142623
xref: OMIM:202550
xref: OMIM:600155
xref: OMIM:613711
xref: OMIM:613712
xref: ORDO:388
xref: SNOMEDCT_2010_1_31:156957008
xref: SNOMEDCT_2010_1_31:204738000
xref: SNOMEDCT_2010_1_31:204739008
xref: SNOMEDCT_2010_1_31:204742002
xref: SNOMEDCT_2010_1_31:204744001
xref: SNOMEDCT_2010_1_31:360436002
xref: SNOMEDCT_2010_1_31:367495003
xref: SNOMEDCT_2010_1_31:6687001
xref: UMLS_CUI:C0019569
is_a: DOID:11372 ! megacolon

[Term]
id: DOID:10488
name: imperforate anus
comment: OMIM mapping confirmed by DO. [SN].
synonym: "anal atresia (disorder)" EXACT [SNOMEDCT_2005_07_31:204712000]
synonym: "Congenital atresia of anus (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:14118000]
synonym: "Congenital or infantile occlusion of anus" EXACT [MTHICD9_2006:751.2]
synonym: "Imperforate anus" EXACT [SNOMEDCT_2005_07_31:156956004]
synonym: "Imperforate anus (disorder)" EXACT [SNOMEDCT_2005_07_31:204731006]
synonym: "Imperforate anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204733009]
xref: MSH:D001006
xref: NCI:C84784
xref: OMIM:207500
xref: OMIM:301800
xref: SNOMEDCT_2010_1_31:14118000
xref: SNOMEDCT_2010_1_31:156956004
xref: SNOMEDCT_2010_1_31:204712000
xref: SNOMEDCT_2010_1_31:204731006
xref: SNOMEDCT_2010_1_31:204733009
xref: UMLS_CUI:C0003466
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:10489
name: transient disorder of initiating or maintaining wakefulness
xref: ICD9CM:307.43
xref: UMLS_CUI:C0154568
is_obsolete: true

[Term]
id: DOID:10493
name: adrenal cortical hypofunction
synonym: "Adrenal cortical hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:386584007]
synonym: "Adrenal cortical hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:68588005]
synonym: "Adrenal Cortical Insufficiency" EXACT [NCI2004_11_17:C27150]
synonym: "Corticoadrenal insufficiency" EXACT [ICD9CM_2006:255.4]
synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:154707007]
synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:267483004]
synonym: "Corticoadrenal insufficiency NOS" EXACT [SNOMEDCT_2005_07_31:190527008]
synonym: "Corticoadrenal insufficiency NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267398003]
xref: ICD9CM:255.4
xref: SNOMEDCT_2010_1_31:154707007
xref: SNOMEDCT_2010_1_31:190527008
xref: SNOMEDCT_2010_1_31:267398003
xref: SNOMEDCT_2010_1_31:267483004
xref: SNOMEDCT_2010_1_31:386584007
xref: SNOMEDCT_2010_1_31:68588005
xref: UMLS_CUI:C0405580
is_a: DOID:3952 ! adrenal cortex disease

[Term]
id: DOID:10494
name: pulmonary valve syphilitic endocarditis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic endocarditis of pulmonary valve (disorder)" EXACT [SNOMEDCT_2005_07_31:186878002]
xref: ICD9CM:093.24
xref: SNOMEDCT_2010_1_31:186878002
xref: UMLS_CUI:C0153163
is_obsolete: true

[Term]
id: DOID:10499
name: orbital granuloma
synonym: "orbital Granuloma" EXACT [NCI2004_11_17:C3653]
synonym: "orbital granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:72776003]
xref: ICD9CM:376.11
xref: NCI:C3653
xref: SNOMEDCT_2010_1_31:194008000
xref: SNOMEDCT_2010_1_31:72776003
xref: UMLS_CUI:C0155262
is_a: DOID:1397 ! chronic orbital inflammation

[Term]
id: DOID:10501
name: menopausal and postmenopausal disorder
xref: ICD9CM:627
xref: ICD9CM:627.9
xref: SNOMEDCT_2010_1_31:156050008
xref: SNOMEDCT_2010_1_31:156056002
xref: SNOMEDCT_2010_1_31:198433000
xref: SNOMEDCT_2010_1_31:198443002
xref: SNOMEDCT_2010_1_31:266677000
xref: UMLS_CUI:C0156407
is_obsolete: true

[Term]
id: DOID:10505
name: generalized nonconvulsive epilepsy disease
alt_id: DOID:10504
synonym: "generalized nonconvulsive epilepsy with intractable epilepsy" EXACT []
xref: ICD9CM:345.0
xref: MSH:D004829
xref: SNOMEDCT_2010_1_31:192979009
xref: SNOMEDCT_2010_1_31:192987005
xref: SNOMEDCT_2010_1_31:35796005
xref: UMLS_CUI:C0017332
xref: UMLS_CUI:C1112693
is_obsolete: true

[Term]
id: DOID:10507
name: Dressler's syndrome
def: "A pericarditis characterized_by inflammation, occurring after injury, located_in pericardium." [url:http\://en.wikipedia.org/wiki/Dressler%27s_syndrome, url:http\://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307]
synonym: "Dressler syndrome" EXACT []
synonym: "Postmyocardial infarction syndrome" EXACT [ICD9CM_2006:411.0]
synonym: "Postmyocardial infarction syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:66189004]
xref: ICD10CM:I24.1
xref: ICD9CM:411.0
xref: SNOMEDCT_2010_1_31:66189004
xref: UMLS_CUI:C0152107
is_a: DOID:1787 ! pericarditis

[Term]
id: DOID:10508
name: Bacillus anthracis pneumonia
def: "A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis." [url:http\://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/8460135]
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Anthrax pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:195902009]
synonym: "Pneumonia in anthrax" EXACT [ICD9CM_2006:484.5]
synonym: "Woolsorters' pneumonia" EXACT [SNOMEDCT_2005_07_31:11389007]
xref: ICD9CM:022.1
xref: ICD9CM:484.5
xref: MSH:C531621
xref: SNOMEDCT_2010_1_31:11389007
xref: SNOMEDCT_2010_1_31:17540007
xref: SNOMEDCT_2010_1_31:186301003
xref: SNOMEDCT_2010_1_31:195902009
xref: SNOMEDCT_2010_1_31:271424002
xref: SNOMEDCT_2010_1_31:30360006
xref: UMLS_CUI:C0155866
is_obsolete: true

[Term]
id: DOID:10510
name: influenza virus pneumonia
def: "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills." [url:http\://chestjournal.chestpubs.org/content/119/6/1717.full.pdf+html, url:http\://en.wikipedia.org/wiki/Pneumonia]
synonym: "influenza pneumonia" EXACT []
synonym: "influenzal pneumonia" EXACT []
xref: ICD9CM:480-488.99
xref: ICD9CM:487.0
xref: SNOMEDCT_2010_1_31:155548002
xref: SNOMEDCT_2010_1_31:155560001
xref: SNOMEDCT_2010_1_31:195878008
xref: SNOMEDCT_2010_1_31:195921001
xref: SNOMEDCT_2010_1_31:266391003
xref: SNOMEDCT_2010_1_31:42964004
xref: UMLS_CUI:C0155870
is_obsolete: true

[Term]
id: DOID:10516
name: malignant otitis externa
def: "A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." [url:http\://www.merck.com/mmhe/sec19/ch219/ch219c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000672.htm]
xref: ICD9CM:380.14
xref: SNOMEDCT_2010_1_31:194206006
xref: SNOMEDCT_2010_1_31:94146005
xref: UMLS_CUI:C0155395
is_a: DOID:9463 ! otitis externa

[Term]
id: DOID:10518
name: beach ear
def: "A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds." [url:http\://en.wikipedia.org/wiki/Otitis_externa, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000622.htm]
synonym: "acute bacterial inflammation of external ear (disorder)" EXACT [SNOMEDCT_2005_07_31:39149004]
synonym: "acute otitis externa, diffuse" EXACT [MTHICD9_2006:380.10]
synonym: "acute swimmer's ear" EXACT [SNOMEDCT_2005_07_31:30250000]
synonym: "acute swimmer's ear (disorder)" EXACT [SNOMEDCT_2005_07_31:194201001]
synonym: "acute swimmers' ear" EXACT [ICD9CM_2006:380.12]
synonym: "Tank ear" EXACT [MTHICD9_2006:380.12]
xref: ICD9CM:380.12
xref: SNOMEDCT_2010_1_31:194201001
xref: SNOMEDCT_2010_1_31:30250000
xref: SNOMEDCT_2010_1_31:39149004
xref: UMLS_CUI:C0155393
is_a: DOID:9463 ! otitis externa

[Term]
id: DOID:10519
name: chronic fungal otitis externa
def: "A otomycosis which is persistent and long-lasting or recurrent." [url:http\://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf]
synonym: "chronic mycotic otitis externa" EXACT [ICD9CM_2006:380.15]
synonym: "chronic mycotic otitis externa (disorder)" EXACT [SNOMEDCT_2005_07_31:111898002]
synonym: "chronic mycotic otitis externa NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194209004]
xref: ICD9CM:380.15
xref: SNOMEDCT_2010_1_31:111898002
xref: SNOMEDCT_2010_1_31:194209004
xref: UMLS_CUI:C0155396
is_a: DOID:0050147 ! otomycosis

[Term]
id: DOID:10520
name: acute infection of pinna
def: "A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." [url:http\://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false]
synonym: "acute infection of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:56663002]
xref: ICD9CM:380.11
xref: SNOMEDCT_2010_1_31:56663002
xref: UMLS_CUI:C0155392
is_a: DOID:9463 ! otitis externa

[Term]
id: DOID:10521
name: pinna disease
synonym: "disorder of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:41663005]
synonym: "disorder of pinna, unspecified" EXACT [ICD9CM_2006:380.30]
synonym: "Unspecified disorder of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:194226005]
xref: ICD9CM:380.30
xref: SNOMEDCT_2010_1_31:155209003
xref: SNOMEDCT_2010_1_31:194226005
xref: SNOMEDCT_2010_1_31:267751009
xref: SNOMEDCT_2010_1_31:41663005
xref: UMLS_CUI:C0155402
is_obsolete: true

[Term]
id: DOID:10525
name: double pterygium
synonym: "Double pterygium (disorder)" EXACT [SNOMEDCT_2005_07_31:41564009]
xref: ICD9CM:372.44
xref: SNOMEDCT_2010_1_31:193883003
xref: SNOMEDCT_2010_1_31:41564009
xref: UMLS_CUI:C0155157
is_a: DOID:0002116 ! pterygium

[Term]
id: DOID:10526
name: conjunctival pterygium
synonym: "Pterygium" EXACT [ICD9CM_2006:372.4]
synonym: "Pterygium" EXACT [MTH:U000135]
synonym: "Pterygium" EXACT [SNOMEDCT_2005_07_31:155165000]
synonym: "Pterygium NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193884009]
synonym: "Pterygium, unspecified" EXACT [ICD9CM_2006:372.40]
synonym: "Unspecified pterygium (disorder)" EXACT [SNOMEDCT_2005_07_31:193879003]
synonym: "Web eye" EXACT [SNOMEDCT_2005_07_31:77489003]
xref: UMLS_CUI:C0033998
is_a: DOID:0002116 ! pterygium
is_a: DOID:10139 ! conjunctival degeneration

[Term]
id: DOID:10527
name: Haemophilus influenzae pneumonia
def: "A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless." [url:http\://books.google.com/books?id=Bv68Qo6apvQC&pg=PA633&lpg#v=onepage&q=&f=false, url:http\://pedbase.org/p/pneumonia_haemophilus-influenzae-pneumonia/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf]
subset: gram-negative_bacterial_infectious_disease
synonym: "Haemophilus influenzae pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:70036007]
synonym: "Pneumonia due to H. influenzae" EXACT [MTHICD9_2006:482.2]
synonym: "pneumonia due to hemophilus influenzae" EXACT []
synonym: "Pneumonia due to Hemophilus influenzae [H. influenzae]" EXACT [ICD9CM_2006:482.2]
xref: ICD9CM:482.2
xref: SNOMEDCT_2010_1_31:70036007
xref: UMLS_CUI:C0276026
is_obsolete: true

[Term]
id: DOID:10528
name: Haemophilus influenzae infectious disease
subset: gram-negative_bacterial_infectious_disease
synonym: "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters" EXACT [SNOMEDCT_2005_07_31:186452000]
synonym: "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)" EXACT [SNOMEDCT_2005_07_31:187579008]
synonym: "Haemophilus influenzae infection (disorder)" EXACT [SNOMEDCT_2005_07_31:91428005]
synonym: "Haemophilus influenzae infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187344007]
synonym: "HEMOPHILUS INFLUENZA INFECTION" EXACT [MTH:NOCODE]
synonym: "Hemophilus Influenza Infection" EXACT [NCI2004_11_17:C34655]
xref: NCI:C34655
xref: SNOMEDCT_2010_1_31:186452000
xref: SNOMEDCT_2010_1_31:187344007
xref: SNOMEDCT_2010_1_31:187579008
xref: SNOMEDCT_2010_1_31:91428005
xref: UMLS_CUI:C0348321
is_obsolete: true

[Term]
id: DOID:10529
name: primary Haemophilus infectious disease
subset: gram-negative_bacterial_infectious_disease
synonym: "Haemophilus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:41659003]
synonym: "Hemophilus Infection" EXACT [NCI2004_11_17:C34654]
xref: MSH:D006192
xref: NCI:C34654
xref: SNOMEDCT_2010_1_31:41659003
xref: UMLS_CUI:C0018482
is_obsolete: true

[Term]
id: DOID:1053
name: developmental dislocation of joint
alt_id: DOID:1052
alt_id: DOID:11114
alt_id: DOID:11311
alt_id: DOID:12032
alt_id: DOID:12370
alt_id: DOID:13332
alt_id: DOID:13797
alt_id: DOID:1710
synonym: "Developmental dislocation of ankle and foot joint" EXACT []
synonym: "Developmental dislocation of forearm joint" EXACT []
synonym: "Developmental dislocation of hand joint" EXACT []
synonym: "Developmental dislocation of joint of multiple sites" EXACT []
synonym: "Developmental dislocation of joint of pelvic region and thigh" EXACT []
synonym: "Developmental dislocation of joint of shoulder region" EXACT []
synonym: "Developmental dislocation of lower leg joint" EXACT []
synonym: "Developmental dislocation of upper arm joint" EXACT []
xref: ICD9CM:718.7
xref: UMLS_CUI:C1145757
is_obsolete: true

[Term]
id: DOID:10531
name: pneumococcal pneumonia
def: "A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting." [url:http\://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm]
subset: gram-positive_bacterial_infectious_disease
synonym: "Chest infection - pneumococcal pneumonia" EXACT [SNOMEDCT_2005_07_31:195884006]
synonym: "Lobar -pneumococcal -pneumonia" EXACT [SNOMEDCT_2005_07_31:155550005]
synonym: "Lobar -pneumococcal -pneumonia" EXACT [SNOMEDCT_2005_07_31:266392005]
synonym: "Lobar pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:278516003]
synonym: "Pneumococcal lobar pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:266350000]
synonym: "Pneumococcal pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:233607000]
synonym: "Pneumococcal pneumonia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:54339004]
synonym: "Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]" EXACT [ICD9CM_2006:481]
synonym: "Streptococcus pneumoniae pneumonia" EXACT [MTHICD9_2006:481]
xref: MSH:D011014
xref: SNOMEDCT_2010_1_31:155550005
xref: SNOMEDCT_2010_1_31:266392005
xref: SNOMEDCT_2010_1_31:278516003
xref: SNOMEDCT_2010_1_31:54339004
xref: UMLS_CUI:C0032300
is_obsolete: true

[Term]
id: DOID:10532
name: streptococcal pneumonia
def: "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." [url:http\://en.wikipedia.org/wiki/Streptococcus]
subset: gram-positive_bacterial_infectious_disease
xref: ICD9CM:481
xref: ICD9CM:482.3
xref: ICD9CM:482.30
xref: MSH:D011018
xref: SNOMEDCT_2010_1_31:155550005
xref: SNOMEDCT_2010_1_31:195884006
xref: SNOMEDCT_2010_1_31:233607000
xref: SNOMEDCT_2010_1_31:266392005
xref: SNOMEDCT_2010_1_31:34020007
xref: SNOMEDCT_2010_1_31:54339004
xref: UMLS_CUI:C0155862
is_obsolete: true

[Term]
id: DOID:10533
name: viral pneumonia
alt_id: DOID:13167
def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." [url:http\://en.wikipedia.org/wiki/Pneumonia]
xref: ICD9CM:480
xref: ICD9CM:480.9
xref: MSH:D011024
xref: SNOMEDCT_2010_1_31:155549005
xref: SNOMEDCT_2010_1_31:195880002
xref: SNOMEDCT_2010_1_31:195883000
xref: SNOMEDCT_2010_1_31:75570004
xref: UMLS_CUI:C0032310
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:10534
name: stomach cancer
alt_id: DOID:10539
alt_id: DOID:10542
alt_id: DOID:10543
alt_id: DOID:4713
def: "A gastrointestinal system cancer that is located_in the stomach." [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Stomach]
comment: OMIM mapping confirmed by DO. [SN].
subset: DO_cancer_slim
subset: TopNodes_DOcancerslim
synonym: "Ca body - stomach" EXACT [SNOMEDCT_2005_07_31:154450001]
synonym: "ca greater curvature of stomach" EXACT []
synonym: "Ca lesser curvature - stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269530002]
synonym: "gastric neoplasm" EXACT [CSP2005:2010-1611, NCI2004_11_17:C3387, SNOMEDCT_2005_07_31:187731004]
synonym: "malignant neoplasm of body of stomach" EXACT []
synonym: "malignant neoplasm of lesser curve of stomach unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187743003]
synonym: "malignant tumor of body of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:187742008]
synonym: "malignant tumor of greater curve of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269460009]
synonym: "malignant tumor of lesser curve of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269459004]
xref: ICD9CM:151
xref: ICD9CM:151.9
xref: MSH:D013274
xref: NCI:C9331
xref: OMIM:137215
xref: OMIM:613659
xref: SNOMEDCT_2010_1_31:126824007
xref: SNOMEDCT_2010_1_31:154450001
xref: SNOMEDCT_2010_1_31:154451002
xref: SNOMEDCT_2010_1_31:154452009
xref: SNOMEDCT_2010_1_31:154453004
xref: SNOMEDCT_2010_1_31:187731004
xref: SNOMEDCT_2010_1_31:187742008
xref: SNOMEDCT_2010_1_31:187743003
xref: SNOMEDCT_2010_1_31:187744009
xref: SNOMEDCT_2010_1_31:187750004
xref: SNOMEDCT_2010_1_31:255080008
xref: SNOMEDCT_2010_1_31:269458007
xref: SNOMEDCT_2010_1_31:269459004
xref: SNOMEDCT_2010_1_31:269460009
xref: SNOMEDCT_2010_1_31:269529007
xref: SNOMEDCT_2010_1_31:269530002
xref: SNOMEDCT_2010_1_31:269531003
xref: SNOMEDCT_2010_1_31:269532005
xref: SNOMEDCT_2010_1_31:363349007
xref: SNOMEDCT_2010_1_31:93717002
xref: SNOMEDCT_2010_1_31:93818001
xref: SNOMEDCT_2010_1_31:93867004
xref: SNOMEDCT_2010_1_31:94074003
xref: UMLS_CUI:C0024623
xref: UMLS_CUI:C0038356
xref: UMLS_CUI:C0153421
xref: UMLS_CUI:C0153422
xref: UMLS_CUI:C0153423
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:10535
name: coxsackie myocarditis
def: "A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart." [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_]
xref: ICD9CM:074.23
xref: SNOMEDCT_2010_1_31:37217002
xref: UMLS_CUI:C0153106
is_obsolete: true

[Term]
id: DOID:10536
name: malignant gastric granular cell tumor
synonym: "malignant granular cell tumor of stomach" EXACT [NCI2004_11_17:C5484]
xref: NCI:C5484
xref: UMLS_CUI:C1334585
is_a: DOID:10534 ! stomach cancer

[Term]
id: DOID:10537
name: recurrent malignant gastric neoplasm
xref: NCI:C9354
xref: UMLS_CUI:C1335708
is_obsolete: true

[Term]
id: DOID:10538
name: gastric fundus cancer
synonym: "Ca fundus - stomach" EXACT [SNOMEDCT_2005_07_31:154449001]
synonym: "Ca fundus - stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269528004]
synonym: "malignant neoplasm of fundus of stomach" EXACT [ICD9CM_2006:151.3]
synonym: "malignant neoplasm of fundus of stomach" EXACT [SNOMEDCT_2005_07_31:93809003]
synonym: "malignant tumor of fundus of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:187741001]
xref: ICD9CM:151.3
xref: SNOMEDCT_2010_1_31:154449001
xref: SNOMEDCT_2010_1_31:187741001
xref: SNOMEDCT_2010_1_31:269528004
xref: SNOMEDCT_2010_1_31:93809003
xref: UMLS_CUI:C0153420
is_a: DOID:10534 ! stomach cancer

[Term]
id: DOID:1054
name: glaucoma associated with chamber angle anomalies
synonym: "Glaucoma associated with chamber angle anomalies (disorder)" EXACT [SNOMEDCT_2005_07_31:19039006]
xref: ICD9CM:365.41
xref: SNOMEDCT_2010_1_31:19039006
xref: UMLS_CUI:C0154953
is_obsolete: true

[Term]
id: DOID:10540
name: gastric lymphoma
synonym: "gastric lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:276811008]
synonym: "Lymphoma of the stomach" EXACT [NCI2004_11_17:C4636]
xref: MSH:C535648
xref: NCI:C4636
xref: SNOMEDCT_2010_1_31:276811008
xref: UMLS_CUI:C0349532
is_a: DOID:10534 ! stomach cancer

[Term]
id: DOID:10541
name: microinvasive gastric cancer
synonym: "early gastric cancer (disorder)" EXACT [SNOMEDCT_2005_07_31:276809004]
synonym: "Surface gastric cancer" EXACT [NCI2004_11_17:C27131]
xref: NCI:C27131
xref: SNOMEDCT_2010_1_31:276809004
xref: UMLS_CUI:C0349530
is_a: DOID:3717 ! gastric adenocarcinoma

[Term]
id: DOID:10544
name: pylorus cancer
synonym: "Ca pylorus - stomach" EXACT [SNOMEDCT_2005_07_31:154448009]
synonym: "Ca pylorus - stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269527009]
synonym: "malignant neoplasm of Prepylorus" EXACT [MTHICD9_2006:151.1]
synonym: "malignant neoplasm of pylorus of stomach NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187739002]
synonym: "malignant tumor of pylorus (disorder)" EXACT [SNOMEDCT_2005_07_31:187736009]
xref: ICD9CM:151.1
xref: SNOMEDCT_2010_1_31:154448009
xref: SNOMEDCT_2010_1_31:187736009
xref: SNOMEDCT_2010_1_31:187739002
xref: SNOMEDCT_2010_1_31:269527009
xref: UMLS_CUI:C0153418
is_a: DOID:10534 ! stomach cancer

[Term]
id: DOID:10545
name: coxsackievirus infectious disease
alt_id: DOID:10546
def: "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." [url:http\://en.wikipedia.org/wiki/Coxsackievirus]
xref: MSH:D003384
xref: SNOMEDCT_2010_1_31:154355005
xref: SNOMEDCT_2010_1_31:186658007
xref: SNOMEDCT_2010_1_31:186666003
xref: UMLS_CUI:C0010246
is_obsolete: true

[Term]
id: DOID:10547
name: pyloric antrum cancer
synonym: "malignant neoplasm of antrum of stomach NOS" EXACT [MTHICD9_2006:151.2]
synonym: "malignant tumor of pyloric antrum (disorder)" EXACT [SNOMEDCT_2005_07_31:187740000]
xref: ICD9CM:151.2
xref: SNOMEDCT_2010_1_31:187740000
xref: SNOMEDCT_2010_1_31:93976007
xref: UMLS_CUI:C0153419
is_a: DOID:10544 ! pylorus cancer

[Term]
id: DOID:10548
name: cardia cancer
synonym: "Ca cardia - stomach" EXACT [SNOMEDCT_2005_07_31:154447004]
synonym: "malignant neoplasm of cardia of stomach" EXACT [SNOMEDCT_2005_07_31:93738008]
xref: ICD9CM:151.0
xref: SNOMEDCT_2010_1_31:154447004
xref: SNOMEDCT_2010_1_31:187732006
xref: SNOMEDCT_2010_1_31:187735008
xref: SNOMEDCT_2010_1_31:269526000
xref: SNOMEDCT_2010_1_31:93738008
xref: UMLS_CUI:C0153417
is_a: DOID:10534 ! stomach cancer

[Term]
id: DOID:10549
name: diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations
synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations" EXACT [MTHICD9_2006:250.51]
synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations" EXACT [ICD9CM_2006:250.51]
xref: ICD9CM:250.51
xref: UMLS_CUI:C0375135
is_obsolete: true

[Term]
id: DOID:1055
name: glaucoma associated with congenital anomalies, dystrophies and systemic syndromes
synonym: "Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes" EXACT [ICD9CM_2006:365.4]
xref: ICD9CM:365.4
xref: UMLS_CUI:C0154952
is_obsolete: true

[Term]
id: DOID:10550
name: acute eustachian salpingitis
def: "A otosalpingitis with a sudden onset and a short course." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false]
synonym: "acute eustachian salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13043002]
synonym: "acute eustachian tube salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194268005]
xref: ICD9CM:381.51
xref: SNOMEDCT_2010_1_31:13043002
xref: SNOMEDCT_2010_1_31:194268005
xref: UMLS_CUI:C0155429
is_a: DOID:2000 ! otosalpingitis

[Term]
id: DOID:10551
name: cerebral toxoplasmosis
def: "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh]
synonym: "Encephalitis due to acquired toxoplasmosis" EXACT [MTHICD9_2006:130.0]
synonym: "Meningoencephalitis due to acquired toxoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:17949000]
synonym: "Meningoencephalitis due to toxoplasmosis" EXACT [ICD9CM_2006:130.0]
synonym: "Toxoplasma encephalitis" EXACT [SNOMEDCT_2005_07_31:187193005]
synonym: "Toxoplasma encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192701001]
xref: ICD9CM:130.0
xref: MSH:D016781
xref: SNOMEDCT_2010_1_31:17949000
xref: SNOMEDCT_2010_1_31:187193005
xref: SNOMEDCT_2010_1_31:192701001
xref: UMLS_CUI:C0085315
is_obsolete: true

[Term]
id: DOID:10554
name: meningoencephalitis
def: "A central nervous system disease that involves encephalitis which occurs along with meningitis." [url:http\://en.wikipedia.org/wiki/Encephalitis]
synonym: "Meningoencephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:7125002]
xref: MSH:D008590
xref: NCI:C34813
xref: SNOMEDCT_2010_1_31:7125002
xref: UMLS_CUI:C0025309
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:10556
name: supine hypotensive syndrome
alt_id: DOID:10555
alt_id: DOID:12413
def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22537582, url:http\://www.ncbi.nlm.nih.gov/pubmed/8164943]
synonym: "antepartum maternal hypotension syndrome" EXACT []
synonym: "postpartum maternal hypotension syndrome" EXACT []
xref: ICD9CM:669.20
xref: UMLS_CUI:C0157456
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:10557
name: maternal distress
xref: ICD9CM:669.00
xref: UMLS_CUI:C0157445
is_obsolete: true

[Term]
id: DOID:1056
name: oculocerebrorenal syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "LOWE OCULOCEREBRORENAL SYNDROME" EXACT []
synonym: "Lowe syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:79385002]
synonym: "oculocerebrorenal syndrome of Lowe" EXACT [CSP2005:1849-1861]
xref: MSH:D009800
xref: NCI:C84940
xref: OMIM:309000
xref: SNOMEDCT_2010_1_31:79385002
xref: UMLS_CUI:C0028860
is_a: DOID:0050735 ! X-linked disease

[Term]
id: DOID:10561
name: yaws hyperkeratosis
subset: gram-negative_bacterial_infectious_disease
synonym: "hyperkeratosis due to yaws" EXACT [ICD9CM_2006:102.3]
synonym: "hyperkeratosis due to yaws" EXACT [SNOMEDCT_2005_07_31:186967009]
synonym: "hyperkeratosis of yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:53734002]
xref: ICD9CM:102.3
xref: SNOMEDCT_2010_1_31:186967009
xref: SNOMEDCT_2010_1_31:53734002
xref: UMLS_CUI:C0276001
is_obsolete: true

[Term]
id: DOID:10564
name: gangosa of yaws
def: "A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue." [url:http\://en.wikipedia.org/wiki/Yaws]
subset: gram-negative_bacterial_infectious_disease
synonym: "Gangosa" EXACT [ICD9CM_2006:102.5]
synonym: "Gangosa of yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:24078009]
synonym: "Rhinopharyngitis mutilans" EXACT [MTHICD9_2006:102.5]
xref: ICD9CM:102.5
xref: SNOMEDCT_2010_1_31:24078009
xref: UMLS_CUI:C0276009
is_obsolete: true

[Term]
id: DOID:10567
name: late yaws
alt_id: DOID:10370
alt_id: DOID:10562
def: "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis." [url:http\://www.who.int/mediacentre/factsheets/fs316/en/]
subset: gram-negative_bacterial_infectious_disease
synonym: "Gummata and ulcers due to yaws" EXACT [ICD9CM_2006:102.4]
synonym: "Gummata of yaws" EXACT [SNOMEDCT_2005_07_31:22071004]
synonym: "gummatous frambeside" EXACT []
synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT []
synonym: "nodular late yaws" EXACT [MTHICD9_2006:102.4]
synonym: "nodular late yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:69008006]
synonym: "Ulcers of yaws" EXACT [SNOMEDCT_2005_07_31:57186002]
synonym: "Yaws gummata and ulcers (disorder)" EXACT [SNOMEDCT_2005_07_31:186968004]
xref: ICD9CM:102.1
xref: SNOMEDCT_2010_1_31:186968004
xref: SNOMEDCT_2010_1_31:22071004
xref: SNOMEDCT_2010_1_31:57186002
xref: SNOMEDCT_2010_1_31:68556002
xref: SNOMEDCT_2010_1_31:69008006
xref: UMLS_CUI:C0153234
xref: UMLS_CUI:C0276007
xref: UMLS_CUI:C1517744
is_a: DOID:10371 ! yaws

[Term]
id: DOID:10568
name: early yaws
alt_id: DOID:10563
alt_id: DOID:10565
def: "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur." [url:http\://www.who.int/mediacentre/factsheets/fs316/en/]
subset: gram-negative_bacterial_infectious_disease
synonym: "bone and joint lesions due to yaws" EXACT [ICD9CM_2006:102.6]
synonym: "bone and joint yaws lesion" EXACT []
synonym: "bone and joint yaws lesions (disorder)" EXACT [SNOMEDCT_2005_07_31:266147005]
synonym: "chancre of yaws" EXACT []
synonym: "early yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:23191004]
synonym: "Frambesia, initial or primary" EXACT [MTHICD9_2006:102.0]
synonym: "Initial frambesial ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:30283007]
synonym: "Initial lesion of yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:49442000]
synonym: "Initial lesions of yaws" EXACT [ICD9CM_2006:102.0]
synonym: "primary frambesia" EXACT [SNOMEDCT_2005_07_31:77912009]
xref: ICD9CM:102.0
xref: SNOMEDCT_2010_1_31:186969007
xref: SNOMEDCT_2010_1_31:23191004
xref: SNOMEDCT_2010_1_31:266147005
xref: SNOMEDCT_2010_1_31:30283007
xref: SNOMEDCT_2010_1_31:49442000
xref: SNOMEDCT_2010_1_31:59227007
xref: SNOMEDCT_2010_1_31:77912009
xref: UMLS_CUI:C0275990
xref: UMLS_CUI:C0275998
xref: UMLS_CUI:C0343834
is_a: DOID:10371 ! yaws

[Term]
id: DOID:10569
name: myopathy of critical illness
synonym: "Critical illness myopathy" EXACT [ICD9CM_2006:359.81]
xref: ICD9CM:359.81
xref: SNOMEDCT_2010_1_31:443819006
xref: UMLS_CUI:C1135188
is_obsolete: true

[Term]
id: DOID:1057
name: inborn amino acid transport disorder
xref: MSH:D020157
xref: UMLS_CUI:C0751746
is_obsolete: true

[Term]
id: DOID:10573
name: osteomalacia
def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone." [url:http\://en.wikipedia.org/wiki/Osteomalacia, url:http\://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx, url:http\://www.mayoclinic.com/health/osteomalacia/DS00935, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000376.htm, url:http\://www.umm.edu/ency/article/000376.htm, url:http\://www.wheelessonline.com/ortho/osteomalacia]
xref: ICD9CM:268.2
xref: MSH:D010018
xref: NCI:C26838
xref: SNOMEDCT_2010_1_31:154728003
xref: SNOMEDCT_2010_1_31:190639009
xref: SNOMEDCT_2010_1_31:190642003
xref: SNOMEDCT_2010_1_31:4598005
xref: UMLS_CUI:C0029442
is_a: DOID:0080005 ! bone remodeling disease

[Term]
id: DOID:10574
name: vitamin D deficiency
synonym: "Avitaminosis D" EXACT [MTHICD9_2006:268.9]
synonym: "Avitaminosis D NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190649007]
synonym: "deficiency of vitamin D (disorder)" EXACT [SNOMEDCT_2005_07_31:124886009]
synonym: "Unspecified vitamin D deficiency" EXACT [ICD9CM_2006:268.9]
synonym: "vitamin D deficiency" EXACT [CSP2005:2116-7610]
synonym: "vitamin D deficiency" EXACT [ICD9CM_2006:268]
synonym: "vitamin D deficiency" EXACT [SNOMEDCT_2005_07_31:154728003]
synonym: "vitamin D deficiency" EXACT [SNOMEDCT_2005_07_31:190639009]
synonym: "vitamin D deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:34713006]
xref: ICD9CM:268
xref: ICD9CM:268.9
xref: MSH:D014808
xref: OMIM:MTHU023608
xref: SNOMEDCT_2010_1_31:124886009
xref: SNOMEDCT_2010_1_31:154728003
xref: SNOMEDCT_2010_1_31:190639009
xref: SNOMEDCT_2010_1_31:190649007
xref: SNOMEDCT_2010_1_31:34713006
xref: UMLS_CUI:C0042870
is_obsolete: true

[Term]
id: DOID:10575
name: calcium metabolism disease
xref: ICD9CM:275.4
xref: ICD9CM:275.40
xref: MSH:D002128
xref: SNOMEDCT_2010_1_31:190863003
xref: SNOMEDCT_2010_1_31:190874007
xref: SNOMEDCT_2010_1_31:267442002
xref: SNOMEDCT_2010_1_31:71638002
xref: UMLS_CUI:C0006705
is_a: DOID:0050032 ! mineral metabolism disease

[Term]
id: DOID:10579
name: leukodystrophy
def: "A cerebral degeneration characterized by dysfunction of the white matter of the brain." [url:http\://en.wikipedia.org/wiki/Leukodystrophy]
xref: ICD9CM:330.0
xref: NCI:C61253
xref: SNOMEDCT_2010_1_31:192781003
xref: SNOMEDCT_2010_1_31:192785007
xref: SNOMEDCT_2010_1_31:5101009
xref: UMLS_CUI:C0023520
is_a: DOID:1443 ! cerebral degeneration

[Term]
id: DOID:1058
name: amino acid transport disease
synonym: "Disturbances of amino-acid transport" EXACT [ICD9CM_2006:270.0]
xref: ICD9CM:270.0
xref: SNOMEDCT_2010_1_31:123292000
xref: SNOMEDCT_2010_1_31:16784003
xref: SNOMEDCT_2010_1_31:190686008
xref: UMLS_CUI:C0268641
is_obsolete: true

[Term]
id: DOID:10581
name: metachromatic leukodystrophy
def: "A sphingolipidosis characterized_by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system." [url:http\://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, url:http\://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "arylsulfatase A deficiency" EXACT []
synonym: "deficiency of cerebroside-sulfatase" EXACT []
synonym: "MLD" EXACT []
synonym: "Scholz cerebral sclerosis" EXACT [SNOMEDCT_2005_07_31:44359008]
synonym: "sulfatide lipoidosis" EXACT [CSP2005:1849-5593]
xref: ICD10CM:E75.2
xref: ICD9CM:330.0
xref: MSH:D007966
xref: NCI:C61251
xref: OMIM:249900
xref: OMIM:250100
xref: ORDO:512
xref: SNOMEDCT_2010_1_31:192784006
xref: SNOMEDCT_2010_1_31:3621006
xref: SNOMEDCT_2010_1_31:396338004
xref: SNOMEDCT_2010_1_31:44359008
xref: UMLS_CUI:C0023522
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:10582
name: Refsum disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Heredopathia atactica polyneuritiformis" EXACT [MTHICD9_2006:356.3]
synonym: "HMSN type IV" EXACT [CSP2005:2042-7949]
synonym: "HSMN IV" EXACT [SNOMEDCT_2005_07_31:25362006]
synonym: "Refsum's disease" EXACT [ICD9CM_2006:356.3]
xref: ICD9CM:356.3
xref: MSH:D012035
xref: NCI:C85043
xref: OMIM:266500
xref: OMIM:266510
xref: SNOMEDCT_2010_1_31:25362006
xref: UMLS_CUI:C0034960
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:10584
name: retinitis pigmentosa
alt_id: DOID:14742
def: "A retinal degeneration characterized_by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." [url:http\://en.wikipedia.org/wiki/Retinitis_pigmentosa, url:http\://ghr.nlm.nih.gov/condition/retinitis-pigmentosa]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS].
synonym: "retinitis pigmentosa type 53 " EXACT []
synonym: "retinitis pigmentosa type 59" EXACT []
synonym: "retinitis pigmentosa-1" EXACT []
synonym: "RP" EXACT [CSP2005:1114-9526]
xref: ICD10CM:H35.5
xref: ICD9CM:362.74
xref: MSH:D012174
xref: NCI:C85045
xref: OMIM:120970
xref: OMIM:180100
xref: OMIM:180104
xref: OMIM:180105
xref: OMIM:268000
xref: OMIM:268025
xref: OMIM:300029
xref: OMIM:300424
xref: OMIM:300605
xref: OMIM:312600
xref: OMIM:312612
xref: OMIM:400004
xref: OMIM:600059
xref: OMIM:600105
xref: OMIM:600132
xref: OMIM:600138
xref: OMIM:600852
xref: OMIM:601414
xref: OMIM:601718
xref: OMIM:602594
xref: OMIM:602772
xref: OMIM:603809
xref: OMIM:606068
xref: OMIM:607921
xref: OMIM:608133
xref: OMIM:608380
xref: OMIM:609913
xref: OMIM:609923
xref: OMIM:610282
xref: OMIM:610359
xref: OMIM:610599
xref: OMIM:611131
xref: OMIM:612095
xref: OMIM:612165
xref: OMIM:612572
xref: OMIM:612712
xref: OMIM:612943
xref: OMIM:613194
xref: OMIM:613428
xref: OMIM:613464
xref: OMIM:613575
xref: OMIM:613581
xref: OMIM:613582
xref: OMIM:613617
xref: OMIM:613731
xref: OMIM:613750
xref: OMIM:613756
xref: OMIM:613758
xref: OMIM:613767
xref: OMIM:613769
xref: OMIM:613794
xref: OMIM:613801
xref: OMIM:613810
xref: OMIM:613827
xref: OMIM:613861
xref: OMIM:613862
xref: OMIM:613983
xref: OMIM:614180
xref: OMIM:614181
xref: OMIM:614494
xref: OMIM:615233
xref: OMIM:615434
xref: OMIM:615565
xref: OMIM:615725
xref: OMIM:615780
xref: OMIM:615922
xref: ORDO:791
xref: SNOMEDCT_2010_1_31:155113002
xref: SNOMEDCT_2010_1_31:28835009
xref: UMLS_CUI:C0035334
xref: UMLS_CUI:C0220701
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:10585
name: hereditary and idiopathic peripheral neuropathy
xref: ICD9CM:356
xref: SNOMEDCT_2010_1_31:193157005
xref: UMLS_CUI:C0154754
is_obsolete: true

[Term]
id: DOID:10587
name: Krabbe disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "beta galactocerebrosidase deficiency" EXACT [CSP2005:1849-5536]
synonym: "Diffuse globoid body sclerosis" EXACT [SNOMEDCT_2005_07_31:189979005]
synonym: "Galactosylceramide beta-galactosidase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:192782005]
synonym: "globoid cell leukodystrophy" EXACT []
synonym: "GLOBOID CELL LEUKOENCEPHALOPATHY" EXACT []
synonym: "Krabbe's disease" EXACT [MTHICD9_2006:330.0]
synonym: "Krabbe's leukodystrophy" EXACT [SNOMEDCT_2005_07_31:5710006]
xref: MSH:D007965
xref: NCI:C61254
xref: OMIM:245200
xref: SNOMEDCT_2010_1_31:189979005
xref: SNOMEDCT_2010_1_31:192782005
xref: SNOMEDCT_2010_1_31:5710006
xref: UMLS_CUI:C0023521
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:10588
name: adrenoleukodystrophy
alt_id: DOID:13451
def: "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death." [url:http\://en.wikipedia.org/wiki/Adrenoleukodystrophy, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/]
comment: MSH:D000326w added from NeuroDevNet [WAK].
synonym: "Adrenoleukodystrophy" EXACT [MSH:D000326]
synonym: "ALD" EXACT [CSP2005:4001-0003]
synonym: "Bronze Schilder disease" EXACT []
synonym: "diffuse cerebral sclerosis of Schilder" RELATED []
synonym: "diffuse sclerosis" EXACT [CSP2005:2042-2215]
synonym: "Encephalitis periaxialis concentrica" EXACT [SNOMEDCT_2005_07_31:44875002]
synonym: "Encephalitis periaxialis, Schilder's" EXACT [MTHICD9_2006:341.1]
synonym: "Schilder disease" EXACT []
synonym: "Schilder's disease" RELATED [SNOMEDCT_2005_07_31:155059003]
synonym: "Siemerling-Creutzfeldt Disease" EXACT []
synonym: "SUDANOPHILIC CEREBRAL SCLEROSIS" EXACT []
synonym: "X-linked adrenoleukodystrophy" EXACT [MTHICD9_2006:277.86]
xref: ICD9CM:341.1
xref: MSH:D000326
xref: MSH:D002549
xref: NCI:C84670
xref: OMIM:202370
xref: OMIM:300100
xref: SNOMEDCT_2010_1_31:155059003
xref: SNOMEDCT_2010_1_31:192932009
xref: SNOMEDCT_2010_1_31:267702006
xref: SNOMEDCT_2010_1_31:44875002
xref: SNOMEDCT_2010_1_31:49692006
xref: SNOMEDCT_2010_1_31:65389002
xref: UMLS_CUI:C0007795
xref: UMLS_CUI:C0162309
is_a: DOID:10579 ! leukodystrophy

[Term]
id: DOID:1059
name: intellectual disability
def: "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills." [url:http\://www.aamr.org/content_96.cfm?navID=20, url:http\://www.google.com/url?sa=t&source=web&cd=9&ved=0CGEQFjAI&url=http%3A%2F%2Fwww.nichcy.org%2FDisabilities%2FSpecific%2FPages%2FIntellectualDisability.aspx&rct=j&q=%20Search%20Intellectual%20Disability%3A%20Definition%2C%20Classification%2C%20and%20Systems%20of%20Supports%20&ei=_Y7dTJ-JKoX7lweUy837DA&usg=AFQjCNHf5WD4JW8kvTc901MQ6AUr_mRPpQ&sig2=sV1yzHR9plpkHZMXYtd8iA&cad=rja, url:http\://www.nichcy.org/disabilities/specific/pages/intellectualdisability.aspx#WhatisID.aspx]
comment: OMIM mapping submitted by NeuroDevNet. [LS].
synonym: "mental retardation" RELATED []
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15" EXACT []
xref: ICD9CM:317-319.99
xref: ICD9CM:319
xref: MSH:D008607
xref: NCI:C84392
xref: SNOMEDCT_2010_1_31:110359009
xref: SNOMEDCT_2010_1_31:154978008
xref: SNOMEDCT_2010_1_31:154979000
xref: SNOMEDCT_2010_1_31:1855002
xref: SNOMEDCT_2010_1_31:192157003
xref: SNOMEDCT_2010_1_31:192557008
xref: SNOMEDCT_2010_1_31:228156007
xref: SNOMEDCT_2010_1_31:268732001
xref: SNOMEDCT_2010_1_31:91138005
xref: UMLS_CUI:C0025362
is_a: DOID:0060038 ! specific developmental disorder

[Term]
id: DOID:10590
name: mild pre-eclampsia
xref: ICD9CM:642.40
xref: UMLS_CUI:C0156664
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:10591
name: pre-eclampsia
alt_id: DOID:12684
def: "A hypertension occurring during pregnancy also characterized_by large amounts of protein in the urine." [url:http\://en.wikipedia.org/wiki/Pre-eclampsia, url:http\://ghr.nlm.nih.gov/condition/preeclampsia]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "gestational hypertension" EXACT [MTHICD9_2006:642.3, SNOMEDCT_2005_07_31:30354006]
synonym: "hypertension induced by pregnancy" EXACT []
synonym: "pre-eclamptic toxaemia" EXACT [SNOMEDCT_2005_07_31:46764007]
synonym: "preeclampsia" EXACT [CSP2005:4001-0110]
synonym: "preeclampsia/eclampsia" EXACT []
synonym: "pregnancy associated hypertension" EXACT [NCI2004_11_17:C4371]
synonym: "pregnancy toxemia" EXACT [CSP2005:2404-7447]
synonym: "proteinuric hypertension of pregnancy" EXACT [SNOMEDCT_2005_07_31:199011002]
synonym: "toxaemia of pregnancy" EXACT [SNOMEDCT_2005_07_31:156106005]
xref: ICD10CM:Q11
xref: ICD9CM:642.4
xref: MSH:D011225
xref: NCI:C34943
xref: NCI:C85021
xref: OMIM:189800
xref: OMIM:609402
xref: OMIM:609403
xref: OMIM:609404
xref: OMIM:614592
xref: ORDO:275555
xref: SNOMEDCT_2010_1_31:15394000
xref: SNOMEDCT_2010_1_31:156106005
xref: SNOMEDCT_2010_1_31:156109003
xref: SNOMEDCT_2010_1_31:156112000
xref: SNOMEDCT_2010_1_31:198969004
xref: SNOMEDCT_2010_1_31:198972006
xref: SNOMEDCT_2010_1_31:198979002
xref: SNOMEDCT_2010_1_31:199011002
xref: SNOMEDCT_2010_1_31:237280005
xref: SNOMEDCT_2010_1_31:267306006
xref: SNOMEDCT_2010_1_31:267307002
xref: SNOMEDCT_2010_1_31:288201007
xref: SNOMEDCT_2010_1_31:30354006
xref: SNOMEDCT_2010_1_31:308551004
xref: SNOMEDCT_2010_1_31:398254007
xref: SNOMEDCT_2010_1_31:46764007
xref: SNOMEDCT_2010_1_31:48194001
xref: SNOMEDCT_2010_1_31:6758009
xref: UMLS_CUI:C0032914
xref: UMLS_CUI:C0340274
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:10593
name: idiopathic progressive polyneuropathy
synonym: "Idiopathic progressive polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:33209009]
xref: ICD9CM:356.4
xref: SNOMEDCT_2010_1_31:193164007
xref: SNOMEDCT_2010_1_31:33209009
xref: UMLS_CUI:C0154756
is_a: DOID:1389 ! polyneuropathy

[Term]
id: DOID:10594
name: idiopathic neuropathy
synonym: "Unspecified idiopathic peripheral neuropathy" EXACT [ICD9CM_2006:356.9]
xref: ICD9CM:356.9
xref: NCI:C35098
xref: UMLS_CUI:C0041848
is_obsolete: true

[Term]
id: DOID:10595
name: Charcot-Marie-Tooth disease
synonym: "Charcot Marie Tooth muscular atrophy" EXACT [CSP2005:2042-7637]
synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [SNOMEDCT_2005_07_31:193158000]
synonym: "Peroneal muscular atrophy" EXACT [ICD9CM_2006:356.1]
xref: ICD9CM:356.1
xref: MSH:D002607
xref: NCI:C75467
xref: SNOMEDCT_2010_1_31:128202008
xref: SNOMEDCT_2010_1_31:193158000
xref: SNOMEDCT_2010_1_31:193162006
xref: SNOMEDCT_2010_1_31:50548001
xref: UMLS_CUI:C0007959
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:10597
name: gonococcal meningitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Gonococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:151004]
xref: ICD9CM:098.82
xref: SNOMEDCT_2010_1_31:151004
xref: SNOMEDCT_2010_1_31:186935006
xref: UMLS_CUI:C0153225
is_obsolete: true

[Term]
id: DOID:106
name: pleural tuberculosis
alt_id: DOID:12624
def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17426219]
subset: gram-positive_bacterial_infectious_disease
synonym: "Pearly disease (disorder)" EXACT [SNOMEDCT_2005_07_31:170713008]
synonym: "Tuberculosis of pleura" EXACT [MTHICD9_2006:012.0]
synonym: "Tuberculosis of Pleura" EXACT [NCI2004_11_17:C26898]
synonym: "Tuberculosis of pleura" EXACT [SNOMEDCT_2005_07_31:186183008]
synonym: "Tuberculosis of pleura (disorder)" EXACT [SNOMEDCT_2005_07_31:186182003]
synonym: "Tuberculosis of pleura (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:68706009]
synonym: "Tuberculous pleurisy" EXACT [ICD9CM_2006:012.0]
synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT []
synonym: "Tuberculous pleurisy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186186000]
synonym: "Tuberculous pleurisy, unspecified examination" EXACT [ICD9CM_2006:012.00]
synonym: "Tuberculous pleuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:171699006]
xref: ICD9CM:012.0
xref: ICD9CM:012.00
xref: MSH:D014396
xref: NCI:C26898
xref: SNOMEDCT_2010_1_31:170713008
xref: SNOMEDCT_2010_1_31:171699006
xref: SNOMEDCT_2010_1_31:186172004
xref: SNOMEDCT_2010_1_31:186182003
xref: SNOMEDCT_2010_1_31:186183008
xref: SNOMEDCT_2010_1_31:186186000
xref: SNOMEDCT_2010_1_31:36379004
xref: SNOMEDCT_2010_1_31:68706009
xref: UMLS_CUI:C0041326
xref: UMLS_CUI:C0152531
is_a: DOID:0050598 ! extrapulmonary tuberculosis

[Term]
id: DOID:1060
name: Hartnup disease
def: "An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "deficiency of tryptophan oxygenase" EXACT [SNOMEDCT_2005_07_31:124208000]
synonym: "Neutral 1 amino acid transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:80902009]
synonym: "neutral amino acid transport defect" EXACT [CSP2005:1849-4235]
xref: MSH:D006250
xref: NCI:C84748
xref: OMIM:234500
xref: SNOMEDCT_2010_1_31:124208000
xref: SNOMEDCT_2010_1_31:80902009
xref: UMLS_CUI:C0018609
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:10600
name: chronic tic disorder
def: "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year." [url:http\://en.wikipedia.org/wiki/Tic_disorder]
synonym: "chronic motor or vocal tic disorder" EXACT [ICD9CM_2006:307.22]
xref: ICD9CM:307.22
xref: MSH:D013981
xref: SNOMEDCT_2010_1_31:192623005
xref: UMLS_CUI:C0008701
is_a: DOID:2769 ! tic disorder

[Term]
id: DOID:10602
name: steatorrhea
synonym: "Fatty stool (finding)" EXACT [SNOMEDCT_2005_07_31:66187002]
xref: MSH:D045602
xref: NCI:C86917
xref: SNOMEDCT_2010_1_31:66187002
xref: UMLS_CUI:C0038238
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10603
name: glucose intolerance
synonym: "Glucose: [intolerance] or [malabsorption]" EXACT [SNOMEDCT_2005_07_31:190752008]
synonym: "Malabsorption of glucose (disorder)" EXACT [SNOMEDCT_2005_07_31:267426009]
xref: MSH:D018149
xref: UMLS_CUI:C0017732
is_a: DOID:4195 ! hyperglycemia

[Term]
id: DOID:10604
name: lactose intolerance
comment: OMIM mapping confirmed by DO. [SN].
synonym: "LM - Lactose malabsorption" EXACT [SNOMEDCT_2005_07_31:190757002]
xref: MSH:D007787
xref: NCI:C3154
xref: OMIM:223100
xref: SNOMEDCT_2010_1_31:154736007
xref: SNOMEDCT_2010_1_31:190750000
xref: SNOMEDCT_2010_1_31:190757002
xref: SNOMEDCT_2010_1_31:267425008
xref: SNOMEDCT_2010_1_31:267497007
xref: UMLS_CUI:C0022951
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:10605
name: short bowel syndrome
synonym: "acquired short bowel syndrome" EXACT [SNOMEDCT_2005_07_31:235724004]
synonym: "short gut syndrome" EXACT [CSP2005:0724-8009]
xref: MSH:D012778
xref: SNOMEDCT_2010_1_31:204768009
xref: SNOMEDCT_2010_1_31:235724004
xref: SNOMEDCT_2010_1_31:26629001
xref: UMLS_CUI:C0036992
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10606
name: blind loop syndrome
synonym: "Bacterial overgrowth syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:66379009]
synonym: "Blind loop syndrome" EXACT [ICD9CM_2006:579.2]
synonym: "Blind loop syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:77225009]
xref: ICD9CM:579.2
xref: MSH:D001765
xref: NCI:C34431
xref: SNOMEDCT_2010_1_31:66379009
xref: SNOMEDCT_2010_1_31:77225009
xref: UMLS_CUI:C0005750
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10607
name: tropical sprue
synonym: "Sprue - tropical" EXACT [SNOMEDCT_2005_07_31:266547002]
synonym: "Tropical steatorrhea" EXACT [MTHICD9_2006:579.1]
xref: ICD9CM:579.1
xref: MSH:D013182
xref: NCI:C45428
xref: SNOMEDCT_2010_1_31:155846005
xref: SNOMEDCT_2010_1_31:266547002
xref: SNOMEDCT_2010_1_31:47384003
xref: UMLS_CUI:C0038054
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10608
name: celiac disease
def: "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/celiac/, url:http\://en.wikipedia.org/wiki/Coeliac_disease, url:http\://www.celiac.org/, url:http\://www.mayoclinic.com/health/celiac-disease/DS00319, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000233.htm]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "celiac sprue" EXACT [CSP2005:1248-3893]
synonym: "coeliac disease" EXACT [SNOMEDCT_2005_07_31:155842007]
synonym: "idiopathic steatorrhea" EXACT [MTHICD9_2006:579.0]
xref: EFO:0001060
xref: ICD10CM:K90.0
xref: ICD9CM:579.0
xref: MSH:D002446
xref: NCI:C26714
xref: OMIM:212750
xref: OMIM:607202
xref: OMIM:609753
xref: OMIM:609754
xref: OMIM:609755
xref: OMIM:611598
xref: OMIM:612005
xref: OMIM:612006
xref: OMIM:612007
xref: OMIM:612008
xref: OMIM:612009
xref: OMIM:612011
xref: OMIM:612110
xref: ORDO:555
xref: SNOMEDCT_2010_1_31:155842007
xref: SNOMEDCT_2010_1_31:197477005
xref: SNOMEDCT_2010_1_31:197481005
xref: SNOMEDCT_2010_1_31:23829007
xref: SNOMEDCT_2010_1_31:266478000
xref: SNOMEDCT_2010_1_31:275404008
xref: SNOMEDCT_2010_1_31:396331005
xref: SNOMEDCT_2010_1_31:45259000
xref: UMLS_CUI:C0007570
is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract

[Term]
id: DOID:10609
name: rickets
alt_id: DOID:11672
def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." [url:http\://emedicine.medscape.com/article/985510-overview, url:http\://en.wikipedia.org/wiki/Rickets, url:http\://www.mayoclinic.com/health/rickets/DS00813, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000344.htm, url:http\://www.umm.edu/ency/article/000344.htm]
comment: Xref MGI.
synonym: "active rickets" EXACT [SNOMEDCT_2005_07_31:190640006]
synonym: "vitamin D hydroxylation-deficient rickets" EXACT []
synonym: "vitamin D-dependent rickets" EXACT []
xref: ICD10CM:E55
xref: ICD9CM:268
xref: MSH:D012279
xref: NCI:C26878
xref: OMIM:264700
xref: OMIM:277440
xref: OMIM:600081
xref: OMIM:600785
xref: ORDO:289157
xref: SNOMEDCT_2010_1_31:154728003
xref: SNOMEDCT_2010_1_31:190639009
xref: SNOMEDCT_2010_1_31:190640006
xref: SNOMEDCT_2010_1_31:41345002
xref: SNOMEDCT_2010_1_31:68295002
xref: UMLS_CUI:C0035579
xref: UMLS_CUI:C0221468
is_a: DOID:0080005 ! bone remodeling disease

[Term]
id: DOID:1061
name: renal aminoaciduria
synonym: "inborn renal aminoaciduria" EXACT [CSP2005:1849-1462]
xref: MSH:D000608
xref: UMLS_CUI:C0002534
is_obsolete: true

[Term]
id: DOID:10610
name: pancreatic steatorrhea
synonym: "pancreatic steatorrhea (disorder)" EXACT [SNOMEDCT_2005_07_31:54576000]
synonym: "pancreatic steatorrhea [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:197487009]
synonym: "pancreatic steatorrhoea" EXACT [SNOMEDCT_2005_07_31:155845009]
xref: ICD9CM:579.4
xref: SNOMEDCT_2010_1_31:155845009
xref: SNOMEDCT_2010_1_31:197487009
xref: SNOMEDCT_2010_1_31:54576000
xref: UMLS_CUI:C0152166
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:10611
name: protein-losing enteropathy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Enteropathy, exudative" EXACT [MTHICD9_2006:579.8]
synonym: "Exudative enteropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:22542007]
synonym: "Protein-losing enteropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:66972006]
xref: MSH:D011504
xref: OMIM:226300
xref: SNOMEDCT_2010_1_31:22542007
xref: SNOMEDCT_2010_1_31:66972006
xref: UMLS_CUI:C0033680
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10612
name: allergic urticaria
synonym: "Allergic urticaria (disorder)" EXACT [SNOMEDCT_2005_07_31:40178009]
xref: ICD9CM:708.0
xref: SNOMEDCT_2010_1_31:156428000
xref: SNOMEDCT_2010_1_31:201260002
xref: SNOMEDCT_2010_1_31:40178009
xref: UMLS_CUI:C0149526
is_a: DOID:1555 ! urticaria

[Term]
id: DOID:10615
name: acute gonococcal cervicitis
synonym: "acute gonococcal cervicitis (disorder)" EXACT [SNOMEDCT_2005_07_31:20943002]
synonym: "acute gonorrhea of cervix" EXACT [MTHICD9_2006:098.15]
synonym: "Gonococcal cervicitis (acute)" EXACT [ICD9CM_2006:098.15]
xref: ICD9CM:098.15
xref: SNOMEDCT_2010_1_31:20943002
xref: UMLS_CUI:C0153195
is_a: DOID:10616 ! acute cervicitis

[Term]
id: DOID:10616
name: acute cervicitis
synonym: "acute cervicitis (disorder)" EXACT [SNOMEDCT_2005_07_31:19272000]
xref: NCI:C27056
xref: SNOMEDCT_2010_1_31:19272000
xref: UMLS_CUI:C0269061
is_a: DOID:2568 ! cervicitis

[Term]
id: DOID:10619
name: lymph node cancer
alt_id: DOID:10438
def: "A lymphatic system cancer that is located_in the lymph node." [url:http\://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer]
subset: TopNodes_DOcancerslim
synonym: "lymph node neoplasm" EXACT [NCI2004_11_17:C35497]
xref: NCI:C35497
xref: SNOMEDCT_2010_1_31:127232002
xref: UMLS_CUI:C0596869
is_a: DOID:0060073 ! lymphatic system cancer

[Term]
id: DOID:1062
name: Fanconi syndrome
alt_id: DOID:5956
def: "A renal tubular transport disease of the proximal renal tubes characterized_by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting." [url:http\://en.wikipedia.org/wiki/Fanconi_syndrome, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000333.htm]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "adult Fanconi Anemia" EXACT [NCI2004_11_17:C4377]
synonym: "adult Fanconi syndrome" EXACT []
synonym: "Congenital Fanconi syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:236466005]
synonym: "De Toni-Fanconi syndrome" EXACT [SNOMEDCT_2005_07_31:111398009]
synonym: "deToni Fanconi syndrome" EXACT [CSP2005:1849-2203]
synonym: "Fanconi-de Toni syndrome" EXACT [MTHICD9_2006:270.0]
synonym: "Fanconi-de-Toni syndrome" EXACT [SNOMEDCT_2005_07_31:190683000]
synonym: "Infantile nephropathic cystinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:62332007]
synonym: "Lignac-Fanconi syndrome" EXACT [SNOMEDCT_2005_07_31:367374009]
xref: ICD10CM:E72.0
xref: ICD9CM:270.0
xref: MSH:D005198
xref: NCI:C3034
xref: OMIM:134600
xref: OMIM:613388
xref: OMIM:615605
xref: ORDO:3337
xref: SNOMEDCT_2010_1_31:111398009
xref: SNOMEDCT_2010_1_31:190681003
xref: SNOMEDCT_2010_1_31:190683000
xref: SNOMEDCT_2010_1_31:236466005
xref: SNOMEDCT_2010_1_31:236468006
xref: SNOMEDCT_2010_1_31:253060009
xref: SNOMEDCT_2010_1_31:267415003
xref: SNOMEDCT_2010_1_31:367374009
xref: SNOMEDCT_2010_1_31:40488004
xref: SNOMEDCT_2010_1_31:62332007
xref: UMLS_CUI:C0015624
xref: UMLS_CUI:C0341703
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:10621
name: Fissure of nipple associated with childbirth
xref: ICD9CM:676.1
xref: SNOMEDCT_2010_1_31:35716006
xref: UMLS_CUI:C0157636
is_obsolete: true

[Term]
id: DOID:10626
name: insulin dependent type diabetes mellitus uncontrolled with ketoacidosis
synonym: "Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis" EXACT [MTHICD9_2006:250.13]
synonym: "type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis" EXACT [ICD9CM_2006:250.13]
xref: ICD9CM:250.13
xref: UMLS_CUI:C0375120
is_obsolete: true

[Term]
id: DOID:10627
name: primary optic atrophy
synonym: "primary optic atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:21098003]
xref: ICD9CM:377.11
xref: SNOMEDCT_2010_1_31:21098003
xref: UMLS_CUI:C0155291
is_a: DOID:5723 ! optic atrophy

[Term]
id: DOID:10629
name: microphthalmia
alt_id: DOID:10650
def: "An eye disease where one or both eyeballs are abnormally small." [url:http\://en.wikipedia.org/wiki/Microphthalmia, url:http\://ghr.nlm.nih.gov/condition/microphthalmia]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "microphthalmos" EXACT []
synonym: "nanophthalmia" EXACT []
synonym: "nanophthalmos" EXACT []
synonym: "simple microphthalmos" EXACT []
xref: ICD10CM:Q11.2
xref: ICD9CM:743.1
xref: ICD9CM:743.10
xref: MSH:D008850
xref: OMIM:206900
xref: OMIM:300166
xref: OMIM:309801
xref: OMIM:600165
xref: OMIM:601186
xref: OMIM:607932
xref: OMIM:609549
xref: OMIM:610093
xref: OMIM:610125
xref: OMIM:611038
xref: OMIM:611040
xref: OMIM:611897
xref: OMIM:613094
xref: OMIM:613704
xref: OMIM:615972
xref: ORDO:35612
xref: SNOMEDCT_2010_1_31:156902006
xref: SNOMEDCT_2010_1_31:204104003
xref: SNOMEDCT_2010_1_31:204107005
xref: SNOMEDCT_2010_1_31:204108000
xref: SNOMEDCT_2010_1_31:204110003
xref: SNOMEDCT_2010_1_31:268310007
xref: SNOMEDCT_2010_1_31:61142002
xref: UMLS_CUI:C0026010
xref: UMLS_CUI:C0158544
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:1063
name: interstitial nephritis
synonym: "renal tubulo-interstitial disease" EXACT [SNOMEDCT_2005_07_31:198506002]
xref: MSH:D009395
xref: NCI:C26834
xref: SNOMEDCT_2010_1_31:198506002
xref: SNOMEDCT_2010_1_31:264536006
xref: SNOMEDCT_2010_1_31:28689008
xref: UMLS_CUI:C0027707
is_a: DOID:10952 ! nephritis

[Term]
id: DOID:10630
name: optic atrophy associated with retinal dystrophy
synonym: "optic atrophy associated with retinal dystrophies" EXACT [ICD9CM_2006:377.13]
synonym: "optic atrophy associated with retinal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:19448008]
xref: ICD9CM:377.13
xref: SNOMEDCT_2010_1_31:19448008
xref: UMLS_CUI:C0155293
is_obsolete: true

[Term]
id: DOID:10631
name: partial optic atrophy
synonym: "Partial optic atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:111527005]
xref: ICD9CM:377.15
xref: SNOMEDCT_2010_1_31:111527005
xref: SNOMEDCT_2010_1_31:194044005
xref: UMLS_CUI:C0155295
is_a: DOID:5723 ! optic atrophy

[Term]
id: DOID:10632
name: Wolfram syndrome
def: "A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1)." [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome, url:http\://omim.org/entry/222300]
comment: OMIM mapping confirmed by DO. [LS].
synonym: "Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)" EXACT [SNOMEDCT_2005_07_31:70694009]
synonym: "DIDMOAD" EXACT []
xref: MSH:D014929
xref: NCI:C35133
xref: OMIM:222300
xref: OMIM:604928
xref: SNOMEDCT_2010_1_31:70694009
xref: UMLS_CUI:C0043207
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:1064
name: cystinosis
synonym: "cystine storage disease" EXACT [CSP2005:1849-0607]
synonym: "Cystine storage disease" EXACT [SNOMEDCT_2005_07_31:190683000]
synonym: "Cystinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:190681003]
synonym: "Cystinosis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:111398009]
synonym: "Cystinosis [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:367374009]
xref: MSH:C531663
xref: MSH:D003554
xref: NCI:C2976
xref: OMIM:219800
xref: SNOMEDCT_2010_1_31:111398009
xref: SNOMEDCT_2010_1_31:190681003
xref: SNOMEDCT_2010_1_31:190683000
xref: SNOMEDCT_2010_1_31:367374009
xref: UMLS_CUI:C0010690
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:10645
name: chronic state latent schizophrenia with acute exacerbation
xref: ICD9CM:295.54
xref: UMLS_CUI:C0154368
is_obsolete: true

[Term]
id: DOID:10646
name: schizotypal personality disorder
def: "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs." [url:http\://en.wikipedia.org/wiki/Schizotypal_personality_disorder]
xref: ICD9CM:301.22
xref: MSH:D012569
xref: SNOMEDCT_2010_1_31:231486008
xref: SNOMEDCT_2010_1_31:31027006
xref: UMLS_CUI:C0036363
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10648
name: acute inferoposterior infarction
xref: ICD9CM:410.30
xref: UMLS_CUI:C0155640
is_a: DOID:9408 ! acute myocardial infarction

[Term]
id: DOID:10649
name: acute inferolateral myocardial infarction
xref: ICD9CM:410.20
xref: UMLS_CUI:C0155636
is_a: DOID:9408 ! acute myocardial infarction

[Term]
id: DOID:10651
name: acute anterolateral myocardial infarction
xref: ICD9CM:410.0
xref: SNOMEDCT_2010_1_31:70211005
xref: UMLS_CUI:C0155627
is_a: DOID:9408 ! acute myocardial infarction

[Term]
id: DOID:10652
name: Alzheimer's disease
def: "A dementia and a tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Alzheimer%27s_disease, url:http\://www.merriam-webster.com/medical/alzheimer%27s%20disease, url:http\://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "AD" EXACT [CSP2005:0485-6737]
synonym: "Alzheimer disease" EXACT []
synonym: "Alzheimer disease, familial" RELATED [MSH:C536597]
synonym: "Alzheimers dementia" EXACT [NCI2004_11_17:C2866]
xref: EFO:0000249
xref: ICD10CM:G30
xref: ICD9CM:331.0
xref: KEGG:05010
xref: MSH:C536597
xref: MSH:D000544
xref: NCI:C2866
xref: NCI:C38778
xref: OMIM:104300
xref: OMIM:104310
xref: OMIM:300756
xref: OMIM:502500
xref: OMIM:602096
xref: OMIM:604154
xref: OMIM:605526
xref: OMIM:606187
xref: OMIM:606889
xref: OMIM:607116
xref: OMIM:607822
xref: OMIM:608907
xref: OMIM:609636
xref: OMIM:609790
xref: OMIM:611073
xref: OMIM:611152
xref: OMIM:611154
xref: OMIM:611155
xref: OMIM:615080
xref: OMIM:615590
xref: OMIM:615711
xref: SNOMEDCT_2010_1_31:154998003
xref: SNOMEDCT_2010_1_31:192160005
xref: SNOMEDCT_2010_1_31:192164001
xref: SNOMEDCT_2010_1_31:267688001
xref: SNOMEDCT_2010_1_31:26929004
xref: SNOMEDCT_2010_1_31:73768007
xref: UMLS_CUI:C0002395
is_a: DOID:1307 ! dementia
is_a: DOID:680 ! tauopathy

[Term]
id: DOID:10655
name: lipoma of colon
synonym: "Colonic Lipoma" EXACT [NCI2004_11_17:C5493]
xref: NCI:C5493
xref: UMLS_CUI:C0940607
is_a: DOID:6460 ! large intestine lipoma

[Term]
id: DOID:10656
name: colon leiomyoma
synonym: "Colonic leiomyoma" EXACT [NCI2004_11_17:C5492]
xref: NCI:C5492
xref: UMLS_CUI:C1333092
is_a: DOID:5143 ! large bowel leiomyoma

[Term]
id: DOID:10657
name: colonic lymphangioma
synonym: "Colonic Lymphangioma" EXACT [NCI2004_11_17:C5500]
synonym: "Lymphangioma of colon" EXACT []
xref: NCI:C5500
xref: UMLS_CUI:C1333094
is_a: DOID:235 ! colonic benign neoplasm

[Term]
id: DOID:10659
name: colonic ganglioneuroma
xref: NCI:C7042
xref: UMLS_CUI:C1333087
is_obsolete: true

[Term]
id: DOID:1066
name: residual stage of open angle glaucoma
synonym: "Open-angle glaucoma residual stage (disorder)" EXACT [SNOMEDCT_2005_07_31:193542007]
synonym: "Residual stage of open angle glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:66990007]
xref: ICD9CM:365.15
xref: SNOMEDCT_2010_1_31:193542007
xref: SNOMEDCT_2010_1_31:66990007
xref: UMLS_CUI:C0154944
is_a: DOID:1067 ! open-angle glaucoma

[Term]
id: DOID:10660
name: mediastinum neuroblastoma
def: "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells." [url:http\://www.cancer.gov/dictionary?CdrID=45418]
subset: DO_cancer_slim
synonym: "neuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6628]
xref: NCI:C6628
xref: UMLS_CUI:C1334673
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm

[Term]
id: DOID:10661
name: mediastinum ganglioneuroblastoma
synonym: "Ganglioneuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6627]
xref: NCI:C6627
xref: UMLS_CUI:C1334653
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm

[Term]
id: DOID:1067
name: open-angle glaucoma
def: "A glaucoma characterized_by optic nerve damage resulting in progressive loss of visual field and characterized_by increased pressure in the eye due to trabecular blockage." [url:http\://en.wikipedia.org/wiki/Glaucoma, url:http\://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html]
comment: Xref MGI.
synonym: "glaucoma simplex" EXACT [SNOMEDCT_2005_07_31:111513000]
synonym: "open angle glaucoma" EXACT [NCI2004_11_17:C34641]
synonym: "pigmentary glaucoma" EXACT [ICD9CM_2006:365.13, SNOMEDCT_2005_07_31:193539001]
synonym: "Wide-angle glaucoma NOS" EXACT [MTHICD9_2006:365.10]
xref: EFO:0004190
xref: ICD10CM:H40.1
xref: ICD9CM:365.1
xref: ICD9CM:365.10
xref: ICD9CM:365.13
xref: MSH:D005902
xref: NCI:C34641
xref: OMIM:137750
xref: OMIM:177700
xref: OMIM:601682
xref: OMIM:602429
xref: OMIM:603383
xref: OMIM:606689
xref: OMIM:608695
xref: OMIM:608696
xref: OMIM:609745
xref: OMIM:609887
xref: OMIM:610535
xref: OMIM:611274
xref: OMIM:611276
xref: OMIM:613100
xref: SNOMEDCT_2010_1_31:111513000
xref: SNOMEDCT_2010_1_31:193538009
xref: SNOMEDCT_2010_1_31:193539001
xref: SNOMEDCT_2010_1_31:193543002
xref: SNOMEDCT_2010_1_31:46168003
xref: SNOMEDCT_2010_1_31:84494001
xref: UMLS_CUI:C0017612
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:1068
name: juvenile glaucoma
synonym: "Glaucoma of childhood" EXACT [ICD9CM_2006:365.14]
synonym: "Glaucoma of childhood" EXACT [SNOMEDCT_2005_07_31:193541000]
synonym: "Glaucoma of childhood (disorder)" EXACT [SNOMEDCT_2005_07_31:71111008]
xref: UMLS_CUI:C0154943
is_a: DOID:1067 ! open-angle glaucoma

[Term]
id: DOID:10685
name: separation anxiety disorder
def: "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place." [url:http\://en.wikipedia.org/wiki/Separation_anxiety_disorder]
xref: UMLS_CUI:C1510447
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:10686
name: lactocele
synonym: "Galactocele" EXACT [ICD9CM_2006:611.5]
synonym: "Galactocele" EXACT [NCI2004_11_17:C3515]
synonym: "Lactocele (disorder)" EXACT [SNOMEDCT_2005_07_31:42385006]
xref: ICD9CM:611.5
xref: MSH:C535998
xref: NCI:C3515
xref: SNOMEDCT_2010_1_31:42385006
xref: UMLS_CUI:C0152243
is_a: DOID:10350 ! breast cyst

[Term]
id: DOID:10688
name: hypertrophy of breast
synonym: "breasts enlarged" EXACT [SNOMEDCT_2005_07_31:43336006]
synonym: "large breast" EXACT [SNOMEDCT_2005_07_31:248809000]
xref: ICD9CM:611.1
xref: NCI:C3125
xref: SNOMEDCT_2010_1_31:155963008
xref: SNOMEDCT_2010_1_31:198114003
xref: SNOMEDCT_2010_1_31:266646002
xref: SNOMEDCT_2010_1_31:372281005
xref: SNOMEDCT_2010_1_31:43336006
xref: UMLS_CUI:C0020565
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:10689
name: galactorrhea not associated with childbirth
synonym: "GALACTORRHEA" EXACT [MTH:NOCODE]
synonym: "Galactorrhea due to non-obstetric cause (disorder)" EXACT [SNOMEDCT_2005_07_31:198115002]
synonym: "Galactorrhea not associated with childbirth (disorder)" EXACT [SNOMEDCT_2005_07_31:78622004]
synonym: "Galactorrhoea" EXACT [SNOMEDCT_2005_07_31:155965001]
xref: ICD9CM:611.6
xref: MSH:C537072
xref: OMIM:230300
xref: SNOMEDCT_2010_1_31:155965001
xref: SNOMEDCT_2010_1_31:198115002
xref: SNOMEDCT_2010_1_31:78622004
xref: UMLS_CUI:C0235660
is_obsolete: true

[Term]
id: DOID:10690
name: mastitis
synonym: "breast inflammation NOS" EXACT [SNOMEDCT_2005_07_31:155955007]
synonym: "breast inflammation NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266644004]
synonym: "Inflammatory breast disease" EXACT [SNOMEDCT_2005_07_31:198099006]
synonym: "Inflammatory disease of breast" EXACT [ICD9CM_2006:611.0]
synonym: "Inflammatory disorder of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:266579006]
xref: ICD9CM:611.0
xref: MSH:D008413
xref: NCI:C53662
xref: SNOMEDCT_2010_1_31:155952005
xref: SNOMEDCT_2010_1_31:155955007
xref: SNOMEDCT_2010_1_31:198099006
xref: SNOMEDCT_2010_1_31:198110007
xref: SNOMEDCT_2010_1_31:266579006
xref: SNOMEDCT_2010_1_31:266641007
xref: SNOMEDCT_2010_1_31:266644004
xref: SNOMEDCT_2010_1_31:45198002
xref: UMLS_CUI:C0024894
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:10691
name: fat necrosis of breast
synonym: "breast Fat necrosis" EXACT [NCI2004_11_17:C3661]
synonym: "Fat necrosis of breast" EXACT [ICD9CM_2006:611.3]
synonym: "Fat necrosis of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:21381006]
xref: ICD9CM:611.3
xref: NCI:C3661
xref: SNOMEDCT_2010_1_31:21381006
xref: UMLS_CUI:C0156321
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:10697
name: chronic endophthalmitis
synonym: "chronic endophthalmitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13978000]
xref: ICD9CM:360.03
xref: SNOMEDCT_2010_1_31:13978000
xref: SNOMEDCT_2010_1_31:193269007
xref: UMLS_CUI:C0154774
is_a: DOID:9724 ! purulent endophthalmitis

[Term]
id: DOID:10699
name: paragonimiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm]
synonym: "Infection by Paragonimus (disorder)" EXACT [SNOMEDCT_2005_07_31:30369007]
synonym: "lung fluke disease" EXACT [MTHICD9_2006:121.2]
synonym: "lung fluke infection" EXACT [SNOMEDCT_2005_07_31:240807004]
synonym: "pulmonary paragonimiasis" EXACT [SNOMEDCT_2005_07_31:240808009]
xref: ICD9CM:121.2
xref: MSH:D010237
xref: NCI:C84995
xref: SNOMEDCT_2010_1_31:240807004
xref: SNOMEDCT_2010_1_31:240808009
xref: SNOMEDCT_2010_1_31:30369007
xref: UMLS_CUI:C0030424
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:1070
name: primary open angle glaucoma
comment: OMIM mapping confirmed by DO. [SN].
synonym: "chronic simple glaucoma" EXACT []
xref: ICD9CM:365.11
xref: NCI:C35394
xref: OMIM:137760
xref: SNOMEDCT_2010_1_31:155122001
xref: SNOMEDCT_2010_1_31:77075001
xref: UMLS_CUI:C0339573
is_a: DOID:1067 ! open-angle glaucoma

[Term]
id: DOID:10708
name: passive-aggressive personality disorder
synonym: "Passive-aggressive personality" EXACT [ICD9CM_2006:301.84]
synonym: "passive-aggressive personality disorder" RELATED []
xref: ICD9CM:301.84
xref: MSH:D010324
xref: NCI:C34904
xref: SNOMEDCT_2010_1_31:192493008
xref: SNOMEDCT_2010_1_31:44966003
xref: UMLS_CUI:C0030631
is_obsolete: true

[Term]
id: DOID:10717
name: meningococcal septicemia
subset: gram-negative_bacterial_infectious_disease
synonym: "Meningococcal septicaemia" EXACT [SNOMEDCT_2005_07_31:154308000]
synonym: "Meningococcemia" EXACT [ICD9CM_2006:036.2]
synonym: "Meningococcemia (disorder)" EXACT [SNOMEDCT_2005_07_31:4089001]
synonym: "Meningococcemia, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187326004]
xref: ICD9CM:036.2
xref: SNOMEDCT_2010_1_31:154308000
xref: SNOMEDCT_2010_1_31:187326004
xref: SNOMEDCT_2010_1_31:4089001
xref: UMLS_CUI:C0025306
is_obsolete: true

[Term]
id: DOID:10718
name: giardiasis
def: "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." [url:http\://en.wikipedia.org/wiki/Giardiasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm]
synonym: "beaver feaver" EXACT []
synonym: "Infection by Giardia lamblia" EXACT [MTHICD9_2006:007.1]
xref: ICD9CM:007.1
xref: MSH:D005873
xref: SNOMEDCT_2010_1_31:10679007
xref: SNOMEDCT_2010_1_31:154275004
xref: SNOMEDCT_2010_1_31:186124000
xref: SNOMEDCT_2010_1_31:266075009
xref: SNOMEDCT_2010_1_31:266176008
xref: SNOMEDCT_2010_1_31:58265007
xref: UMLS_CUI:C0017536
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:10719
name: toxic diffuse goiter
xref: ICD9CM:242.00
xref: UMLS_CUI:C0154138
is_a: DOID:7998 ! hyperthyroidism

[Term]
id: DOID:1073
name: renal hypertension
xref: MSH:D006977
xref: NCI:C3121
xref: SNOMEDCT_2010_1_31:194775007
xref: SNOMEDCT_2010_1_31:28119000
xref: UMLS_CUI:C0020544
is_a: DOID:11130 ! secondary hypertension

[Term]
id: DOID:10731
name: nodular lung tuberculosis
def: "A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf]
subset: gram-positive_bacterial_infectious_disease
xref: ICD9CM:011.1
xref: ICD9CM:011.10
xref: SNOMEDCT_2010_1_31:186176001
xref: SNOMEDCT_2010_1_31:80602006
xref: UMLS_CUI:C0152559
is_obsolete: true

[Term]
id: DOID:1074
name: kidney failure
synonym: "KIDNEY FAILURE" EXACT [MTH:647]
synonym: "renal failure" EXACT [CSP2005:1682-2744]
synonym: "renal Failure" EXACT [NCI2004_11_17:C4376]
synonym: "renal failure" EXACT [SNOMEDCT_2005_07_31:156092003]
synonym: "renal failure" EXACT [SNOMEDCT_2005_07_31:198524000]
synonym: "renal failure NOS" EXACT [SNOMEDCT_2005_07_31:266616000]
synonym: "renal failure syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:42399005]
synonym: "renal failure unspecified" EXACT [SNOMEDCT_2005_07_31:197656003]
synonym: "renal failure unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:266553002]
synonym: "renal failure, unspecified" EXACT [ICD9CM_2006:586]
xref: ICD9CM:586
xref: MSH:D051437
xref: NCI:C4376
xref: SNOMEDCT_2010_1_31:156092003
xref: SNOMEDCT_2010_1_31:197656003
xref: SNOMEDCT_2010_1_31:198524000
xref: SNOMEDCT_2010_1_31:266553002
xref: SNOMEDCT_2010_1_31:266616000
xref: SNOMEDCT_2010_1_31:42399005
xref: UMLS_CUI:C0035078
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:10742
name: cerebral lipidosis
synonym: "Cerebral lipidoses NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192789001]
synonym: "Cerebral lipidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:16517004]
xref: ICD9CM:330.1
xref: SNOMEDCT_2010_1_31:16517004
xref: SNOMEDCT_2010_1_31:192786008
xref: SNOMEDCT_2010_1_31:192789001
xref: UMLS_CUI:C0007788
is_a: DOID:1443 ! cerebral degeneration

[Term]
id: DOID:10744
name: broad ligament malignant neoplasm
synonym: "malignant neoplasm of broad ligament of uterus" EXACT [ICD9CM_2006:183.3]
xref: ICD9CM:183.3
xref: SNOMEDCT_2010_1_31:188202001
xref: SNOMEDCT_2010_1_31:93728003
xref: UMLS_CUI:C0346866
is_a: DOID:11747 ! uterine adnexa cancer

[Term]
id: DOID:10747
name: lymphoid leukemia
synonym: "subacute lymphoid leukemia" EXACT []
xref: ICD9CM:204.2
xref: MSH:D054198
xref: SNOMEDCT_2010_1_31:154590001
xref: SNOMEDCT_2010_1_31:188726003
xref: SNOMEDCT_2010_1_31:190035004
xref: SNOMEDCT_2010_1_31:33560006
xref: SNOMEDCT_2010_1_31:95274002
xref: UMLS_CUI:C0152271
is_a: DOID:1037 ! lymphoblastic leukemia

[Term]
id: DOID:1075
name: chronic pyelonephritis with lesion of renal medullary necrosis
xref: ICD9CM:590.01
xref: UMLS_CUI:C0156250
is_obsolete: true

[Term]
id: DOID:10754
name: otitis media
def: "A otitis which involves inflammation of the middle ear." [url:http\://en.wikipedia.org/wiki/Otitis_media]
xref: ICD9CM:382.9
xref: MSH:D010033
xref: NCI:C34885
xref: SNOMEDCT_2010_1_31:155222006
xref: SNOMEDCT_2010_1_31:194291009
xref: SNOMEDCT_2010_1_31:267669008
xref: SNOMEDCT_2010_1_31:65363002
xref: UMLS_CUI:C0029882
is_a: DOID:5100 ! middle ear disease

[Term]
id: DOID:10755
name: petrositis
alt_id: DOID:14013
alt_id: DOID:14014
def: "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone." [url:http\://medical-dictionary.thefreedictionary.com/petrositis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001254.htm]
synonym: "acute petrositis" EXACT []
synonym: "chronic petrositis" EXACT []
synonym: "inflammation of petrous bone" RELATED []
xref: ICD9CM:383.2
xref: ICD9CM:383.20
xref: SNOMEDCT_2010_1_31:155233009
xref: SNOMEDCT_2010_1_31:194300003
xref: SNOMEDCT_2010_1_31:194301004
xref: SNOMEDCT_2010_1_31:267760001
xref: SNOMEDCT_2010_1_31:28593007
xref: SNOMEDCT_2010_1_31:34997001
xref: SNOMEDCT_2010_1_31:51211002
xref: UMLS_CUI:C0155448
xref: UMLS_CUI:C0155449
xref: UMLS_CUI:C0155450
is_a: DOID:1019 ! osteomyelitis

[Term]
id: DOID:1076
name: chronic pyelonephritis
xref: ICD9CM:590.0
xref: SNOMEDCT_2010_1_31:123293005
xref: SNOMEDCT_2010_1_31:155861006
xref: SNOMEDCT_2010_1_31:197767009
xref: SNOMEDCT_2010_1_31:266619007
xref: SNOMEDCT_2010_1_31:63302006
xref: UMLS_CUI:C0085697
is_a: DOID:11400 ! pyelonephritis

[Term]
id: DOID:10760
name: choroidal rupture
synonym: "Choroidal rupture (disorder)" EXACT [SNOMEDCT_2005_07_31:2532009]
xref: ICD9CM:363.63
xref: SNOMEDCT_2010_1_31:2532009
xref: UMLS_CUI:C0154903
is_obsolete: true

[Term]
id: DOID:10762
name: portal hypertension
xref: ICD9CM:572.3
xref: MSH:D006975
xref: NCI:C3119
xref: SNOMEDCT_2010_1_31:155821005
xref: SNOMEDCT_2010_1_31:34742003
xref: UMLS_CUI:C0020541
is_a: DOID:272 ! hepatic vascular disease

[Term]
id: DOID:10763
name: hypertension
synonym: "High blood pressure (& [essential hypertension])" EXACT [SNOMEDCT_2005_07_31:194757006]
synonym: "HTN" EXACT [CSP2005:0571-5243]
synonym: "hyperpiesia" EXACT [CSP2005:4003-0017]
synonym: "hypertensive disease" RELATED [MTH:NOCODE]
synonym: "vascular hypertensive disorder" EXACT [NCI2004_11_17:C3117]
xref: EFO:0000537
xref: ICD9CM:401-405.99
xref: ICD9CM:997.91
xref: MSH:D006973
xref: NCI:C3117
xref: SNOMEDCT_2010_1_31:155295004
xref: SNOMEDCT_2010_1_31:155302005
xref: SNOMEDCT_2010_1_31:194756002
xref: SNOMEDCT_2010_1_31:194757006
xref: SNOMEDCT_2010_1_31:194760004
xref: SNOMEDCT_2010_1_31:194794002
xref: SNOMEDCT_2010_1_31:195537001
xref: SNOMEDCT_2010_1_31:266287006
xref: SNOMEDCT_2010_1_31:38341003
xref: UMLS_CUI:C0020538
is_a: DOID:0050828 ! artery disease

[Term]
id: DOID:10764
name: liver abscess and sequelae of chronic liver disease
xref: ICD9CM:572
xref: SNOMEDCT_2010_1_31:197324004
xref: SNOMEDCT_2010_1_31:197336005
xref: UMLS_CUI:C0156191
is_obsolete: true

[Term]
id: DOID:1077
name: Spirurida infectious disease
alt_id: DOID:11679
def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida." [url:http\://en.wikipedia.org/wiki/Spirurida]
synonym: "filarial infectious disease and dracontiasis" EXACT []
xref: ICD9CM:125.6
xref: SNOMEDCT_2010_1_31:187159006
xref: UMLS_CUI:C0029796
is_obsolete: true

[Term]
id: DOID:10772
name: thrombotic thrombocytopenic purpura
synonym: "Moschcowitz's syndrome" EXACT [MTHICD9_2006:446.6]
xref: MSH:D011697
xref: NCI:C78797
xref: SNOMEDCT_2010_1_31:155443009
xref: SNOMEDCT_2010_1_31:195358008
xref: SNOMEDCT_2010_1_31:195359000
xref: SNOMEDCT_2010_1_31:360402008
xref: SNOMEDCT_2010_1_31:78129009
xref: UMLS_CUI:C0034155
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:10773
name: bubonic plague
def: "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration." [url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "black death" EXACT [CSP2005:0368-3331]
synonym: "Black death" EXACT [SNOMEDCT_2005_07_31:58750007]
synonym: "Bubonic plague" EXACT [ICD9CM_2006:020.0]
synonym: "Bubonic plague (disorder)" EXACT [SNOMEDCT_2005_07_31:50797007]
xref: ICD9CM:020.0
xref: MSH:D010930
xref: SNOMEDCT_2010_1_31:50797007
xref: SNOMEDCT_2010_1_31:58750007
xref: UMLS_CUI:C0282312
is_a: DOID:3482 ! plague

[Term]
id: DOID:10774
name: cutaneous plague
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "cellulocutaneous plague" EXACT [ICD9CM_2006:020.1]
synonym: "cellulocutaneous plague (disorder)" EXACT [SNOMEDCT_2005_07_31:43484003]
xref: ICD9CM:020.1
xref: SNOMEDCT_2010_1_31:43484003
xref: UMLS_CUI:C0152935
is_obsolete: true

[Term]
id: DOID:10778
name: fiedler's myocarditis
synonym: "fiedler myocarditis" EXACT []
synonym: "Idiopathic myocarditis" EXACT [ICD9CM_2006:422.91]
synonym: "Isolated (Fiedler's) myocarditis" EXACT [SNOMEDCT_2005_07_31:194954007]
xref: ICD9CM:422.91
xref: SNOMEDCT_2010_1_31:194954007
xref: SNOMEDCT_2010_1_31:194955008
xref: SNOMEDCT_2010_1_31:266238009
xref: SNOMEDCT_2010_1_31:91025000
xref: UMLS_CUI:C0155689
is_a: DOID:3951 ! acute myocarditis

[Term]
id: DOID:10779
name: septic myocarditis
synonym: "Septic myocarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194959002]
synonym: "Septic myocarditis, NOS" EXACT [SNOMEDCT_2005_07_31:64043005]
xref: ICD9CM:422.92
xref: SNOMEDCT_2010_1_31:194959002
xref: SNOMEDCT_2010_1_31:64043005
xref: UMLS_CUI:C0155690
is_a: DOID:3951 ! acute myocarditis

[Term]
id: DOID:1078
name: Chromadorea infectious disease
alt_id: DOID:4192
def: "A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands." [url:http\://en.wikipedia.org/wiki/Chromadoria]
synonym: "secernentea infectious disease" EXACT []
xref: MSH:D017188
xref: UMLS_CUI:C0162623
is_obsolete: true

[Term]
id: DOID:10780
name: primary polycythemia
synonym: "familial erythrocytosis" EXACT []
synonym: "Familiar Polycythemia" EXACT [NCI2004_11_17:C26955]
xref: ICD9CM:289.6
xref: NCI:C26955
xref: SNOMEDCT_2010_1_31:154840005
xref: SNOMEDCT_2010_1_31:17342003
xref: SNOMEDCT_2010_1_31:267571003
xref: UMLS_CUI:C0152264
is_a: DOID:8432 ! polycythemia

[Term]
id: DOID:10782
name: mesenteric lymphadenitis
synonym: "Mesenteric adenitis" EXACT [SNOMEDCT_2005_07_31:154837005]
synonym: "Mesenteric adenitis" EXACT [SNOMEDCT_2005_07_31:191376006]
synonym: "Mesenteric lymphadenitis" EXACT [MTHICD9_2006:289.2]
synonym: "Mesenteric lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:44897000]
xref: ICD9CM:289.2
xref: MSH:D008640
xref: NCI:C26830
xref: SNOMEDCT_2010_1_31:154837005
xref: SNOMEDCT_2010_1_31:191376006
xref: SNOMEDCT_2010_1_31:191378007
xref: SNOMEDCT_2010_1_31:267548000
xref: SNOMEDCT_2010_1_31:44897000
xref: UMLS_CUI:C0025469
is_a: DOID:1602 ! lymphadenitis

[Term]
id: DOID:10783
name: methemoglobinemia
xref: ICD9CM:289.7
xref: MSH:D008708
xref: NCI:C34817
xref: SNOMEDCT_2010_1_31:191386007
xref: SNOMEDCT_2010_1_31:191393006
xref: SNOMEDCT_2010_1_31:267549008
xref: SNOMEDCT_2010_1_31:38959009
xref: UMLS_CUI:C0025637
is_a: DOID:2860 ! hemoglobinopathy

[Term]
id: DOID:10784
name: Queensland tick typhus
alt_id: DOID:0050038
def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Australian tick typhus " RELATED []
synonym: "North Queensland tick typhus" RELATED []
synonym: "Queensland tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:68981009]
synonym: "Rickettsia australis spotted fever" EXACT []
xref: UMLS_CUI:C0152064
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:10787
name: premature menopause
synonym: "Menopause - premature" EXACT [SNOMEDCT_2005_07_31:154713003]
synonym: "Menopause - premature" EXACT [SNOMEDCT_2005_07_31:267486007]
synonym: "Menopause praecox (qualifier value)" EXACT [SNOMEDCT_2005_07_31:74296006]
synonym: "Premature menopause" EXACT [ICD9CM_2006:256.31]
synonym: "Premature menopause (finding)" EXACT [SNOMEDCT_2005_07_31:373717006]
synonym: "Premature menopause NOS" EXACT [MTHICD9_2006:256.3]
synonym: "Premature menopause NOS" EXACT [SNOMEDCT_2005_07_31:190544007]
synonym: "Premature menopause NOS (qualifier value)" EXACT [SNOMEDCT_2005_07_31:237789005]
xref: ICD9CM:256.31
xref: MSH:D008594
xref: NCI:C80099
xref: SNOMEDCT_2010_1_31:154713003
xref: SNOMEDCT_2010_1_31:190544007
xref: SNOMEDCT_2010_1_31:237789005
xref: SNOMEDCT_2010_1_31:267486007
xref: SNOMEDCT_2010_1_31:373717006
xref: SNOMEDCT_2010_1_31:74296006
xref: UMLS_CUI:C0025322
is_a: DOID:1414 ! ovarian dysfunction

[Term]
id: DOID:10788
name: osteitis condensans
synonym: "Focal sclerosing osteomyelitis" EXACT [SNOMEDCT_2005_07_31:55413008]
synonym: "Sclerosing osteitis" EXACT [SNOMEDCT_2005_07_31:54691007]
xref: ICD9CM:733.5
xref: SNOMEDCT_2010_1_31:203488001
xref: SNOMEDCT_2010_1_31:268031000
xref: SNOMEDCT_2010_1_31:54691007
xref: SNOMEDCT_2010_1_31:55413008
xref: UMLS_CUI:C0152263
is_obsolete: true

[Term]
id: DOID:1079
name: setariasis
def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." [url:http\://www.jstor.org/stable/pdfplus/3277411.pdf]
subset: zoonotic_infectious_disease
synonym: "Infectious Disease by Setaria (disorder)" EXACT [SNOMEDCT_2005_07_31:4414005]
xref: MSH:D012719
xref: SNOMEDCT_2010_1_31:4414005
xref: UMLS_CUI:C0036850
is_a: DOID:1080 ! filariasis

[Term]
id: DOID:10790
name: chronic frontal sinusitis
def: "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm]
xref: ICD9CM:473.1
xref: NCI:C34473
xref: SNOMEDCT_2010_1_31:155527004
xref: SNOMEDCT_2010_1_31:195786002
xref: SNOMEDCT_2010_1_31:60130002
xref: UMLS_CUI:C0008683
is_a: DOID:10791 ! frontal sinusitis

[Term]
id: DOID:10791
name: frontal sinusitis
def: "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm]
synonym: "Frontal sinusitis" EXACT [SNOMEDCT_2005_07_31:275485006]
synonym: "Frontal sinusitis (& chronic)" EXACT [SNOMEDCT_2005_07_31:195786002]
synonym: "Frontal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:78737005]
xref: MSH:D015522
xref: NCI:C34626
xref: SNOMEDCT_2010_1_31:195786002
xref: SNOMEDCT_2010_1_31:275485006
xref: SNOMEDCT_2010_1_31:78737005
xref: UMLS_CUI:C0016735
is_a: DOID:0050127 ! sinusitis

[Term]
id: DOID:10792
name: chronic maxillary sinusitis
def: "A maxillary sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm]
synonym: "(maxillary sinusitis) or (chronic antritis)" EXACT [SNOMEDCT_2005_07_31:195785003]
synonym: "chronic antritis" EXACT [SNOMEDCT_2005_07_31:8299006]
xref: ICD9CM:473.0
xref: NCI:C34477
xref: SNOMEDCT_2010_1_31:155526008
xref: SNOMEDCT_2010_1_31:195785003
xref: SNOMEDCT_2010_1_31:35923002
xref: SNOMEDCT_2010_1_31:8299006
xref: UMLS_CUI:C0008698
is_a: DOID:2051 ! maxillary sinusitis

[Term]
id: DOID:10793
name: chronic sphenoidal sinusitis
def: "A sphenoid sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis]
synonym: "Sphenoidal sinus-chr." EXACT [SNOMEDCT_2005_07_31:266384001]
xref: ICD9CM:473.3
xref: NCI:C34480
xref: SNOMEDCT_2010_1_31:155528009
xref: SNOMEDCT_2010_1_31:266384001
xref: SNOMEDCT_2010_1_31:38961000
xref: UMLS_CUI:C0008712
is_a: DOID:10794 ! sphenoid sinusitis

[Term]
id: DOID:10794
name: sphenoid sinusitis
def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." [url:http\://en.wikipedia.org/wiki/sinusitis]
synonym: "Sphenoidal sinusitis" EXACT [NCI2004_11_17:C35031]
synonym: "Sphenoidal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13266007]
xref: MSH:D015524
xref: NCI:C35031
xref: SNOMEDCT_2010_1_31:13266007
xref: UMLS_CUI:C0037886
is_a: DOID:0050127 ! sinusitis

[Term]
id: DOID:10795
name: congenital syphilitic encephalitis
subset: gram-negative_bacterial_infectious_disease
synonym: "Congenital syphilitic encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:32735002]
synonym: "Encephalitis due to congenital syphilis" EXACT [SNOMEDCT_2005_07_31:192699001]
xref: ICD9CM:090.41
xref: SNOMEDCT_2010_1_31:192699001
xref: SNOMEDCT_2010_1_31:32735002
xref: UMLS_CUI:C0153133
is_obsolete: true

[Term]
id: DOID:1080
name: filariasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea." [url:http\://en.wikipedia.org/wiki/Filariasis]
synonym: "disease due to superfamily Filarioidea (disorder)" EXACT [SNOMEDCT_2005_07_31:105706003]
xref: ICD9CM:125.9
xref: MSH:D005368
xref: NCI:C34611
xref: SNOMEDCT_2010_1_31:105706003
xref: SNOMEDCT_2010_1_31:187161002
xref: SNOMEDCT_2010_1_31:187532008
xref: SNOMEDCT_2010_1_31:50342004
xref: UMLS_CUI:C0016085
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:10802
name: acute gonococcal epididymo-orchitis
synonym: "acute gonococcal epididymo-orchitis (disorder)" EXACT [SNOMEDCT_2005_07_31:30168008]
synonym: "Gonococcal epididymo-orchitis (acute)" EXACT [ICD9CM_2006:098.13]
xref: ICD9CM:098.13
xref: SNOMEDCT_2010_1_31:186912008
xref: SNOMEDCT_2010_1_31:30168008
xref: UMLS_CUI:C0153193
is_a: DOID:9401 ! epididymo-orchitis

[Term]
id: DOID:10803
name: Haemophilus influenzae meningitis
subset: gram-negative_bacterial_infectious_disease
synonym: "Haemophilus meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192643004]
synonym: "Hemophilus meningitis" EXACT [ICD9CM_2006:320.0]
xref: ICD9CM:320.0
xref: MSH:D008583
xref: SNOMEDCT_2010_1_31:192643004
xref: UMLS_CUI:C0025292
is_obsolete: true

[Term]
id: DOID:10808
name: gastric ulcer
alt_id: DOID:10807
alt_id: DOID:10809
alt_id: DOID:12047
alt_id: DOID:12057
alt_id: DOID:12068
alt_id: DOID:12069
alt_id: DOID:12806
alt_id: DOID:13124
alt_id: DOID:13125
alt_id: DOID:241
alt_id: DOID:242
synonym: "acute gastric ulcer with haemorrhage and perforation" EXACT [SNOMEDCT_2005_07_31:155684001]
synonym: "acute gastric ulcer with hemorrhage and obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:46708007]
synonym: "acute gastric ulcer with hemorrhage and perforation" EXACT [ICD9CM_2006:531.2]
synonym: "acute gastric ulcer with hemorrhage AND perforation" EXACT []
synonym: "acute gastric ulcer with hemorrhage AND perforation (disorder)" EXACT [SNOMEDCT_2005_07_31:48974009]
synonym: "acute gastric ulcer with hemorrhage AND perforation [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:196631003]
synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" EXACT [ICD9CM_2006:531.20]
synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:17067009]
synonym: "acute gastric ulcer with hemorrhage, with obstruction" EXACT [ICD9CM_2006:531.01]
synonym: "acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:53337006]
synonym: "acute gastric ulcer with perforation" EXACT []
synonym: "acute gastric ulcer with perforation AND obstruction" EXACT []
synonym: "acute gastric ulcer with perforation AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:43694004]
synonym: "acute gastric ulcer with perforation, with obstruction" EXACT [ICD9CM_2006:531.11]
synonym: "acute gastric ulcer without hemorrhage and without perforation" EXACT []
synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction" EXACT []
synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:54053008]
synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [ICD9CM_2006:531.30]
synonym: "bleeding acute gastric ulcer" EXACT []
synonym: "chronic gastric ulcer without hemorrhage AND without perforation" EXACT []
synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction" EXACT []
synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:60531007]
synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" EXACT [ICD9CM_2006:531.71]
xref: ICD9CM:531
xref: MSH:D013276
xref: NCI:C3388
xref: SNOMEDCT_2010_1_31:155681009
xref: SNOMEDCT_2010_1_31:155690002
xref: SNOMEDCT_2010_1_31:196627009
xref: SNOMEDCT_2010_1_31:196642007
xref: SNOMEDCT_2010_1_31:196649003
xref: SNOMEDCT_2010_1_31:196650003
xref: SNOMEDCT_2010_1_31:266436006
xref: SNOMEDCT_2010_1_31:397825006
xref: SNOMEDCT_2010_1_31:6034002
xref: UMLS_CUI:C0038358
is_a: DOID:750 ! peptic ulcer disease

[Term]
id: DOID:1081
name: mansonelliasis
def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." [url:http\://en.wikipedia.org/wiki/Mansonelliasis]
synonym: "Mansonelliasis (disorder)" EXACT [SNOMEDCT_2005_07_31:240849009]
xref: MSH:D008368
xref: NCI:C84882
xref: SNOMEDCT_2010_1_31:240849009
xref: UMLS_CUI:C0024759
is_a: DOID:1080 ! filariasis

[Term]
id: DOID:10810
name: tibialis tendinitis
synonym: "Tibialis tendinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:50127006]
xref: ICD9CM:726.72
xref: SNOMEDCT_2010_1_31:50127006
xref: UMLS_CUI:C0158321
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:10811
name: nasal cavity cancer
def: "A respiratory system cancer that is located_in the nasal cavity." [url:http\://en.wikipedia.org/wiki/Nasal_cavity]
subset: TopNodes_DOcancerslim
synonym: "malignant neoplasm of nasal cavities" EXACT [ICD9CM_2006:160.0]
synonym: "malignant tumor of the nasal cavity" EXACT [NCI2004_11_17:C4918]
xref: ICD9CM:160.0
xref: NCI:C4918
xref: SNOMEDCT_2010_1_31:187832001
xref: SNOMEDCT_2010_1_31:363422006
xref: SNOMEDCT_2010_1_31:93917007
xref: UMLS_CUI:C0728864
is_a: DOID:0050615 ! respiratory system cancer

[Term]
id: DOID:10812
name: nasal cavity olfactory neuroblastoma
synonym: "Olfactory neuroblastoma of the nasal cavity" EXACT [NCI2004_11_17:C7604]
xref: NCI:C7604
xref: UMLS_CUI:C1334923
is_a: DOID:10811 ! nasal cavity cancer

[Term]
id: DOID:10813
name: nasal cavity lymphoma
synonym: "lymphoma of nasal cavity" EXACT []
synonym: "Lymphoma of the nasal cavity" EXACT [NCI2004_11_17:C6074]
xref: NCI:C6074
xref: UMLS_CUI:C1334921
is_a: DOID:10811 ! nasal cavity cancer

[Term]
id: DOID:10815
name: recurrent duodenal cancer
synonym: "recurrent malignant Duodenal neoplasm" EXACT [NCI2004_11_17:C9263]
xref: NCI:C9263
xref: NCI:C9352
xref: UMLS_CUI:C0861834
is_obsolete: true

[Term]
id: DOID:10816
name: duodenum adenocarcinoma
def: "A duodenum cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]
synonym: "adenocarcinoma of duodenum" RELATED []
synonym: "adenocarcinoma of duodenum (disorder)" EXACT [SNOMEDCT_2005_07_31:408644002]
synonym: "Duodenal adenocarcinoma" EXACT [NCI2004_11_17:C7889]
xref: NCI:C7889
xref: SNOMEDCT_2010_1_31:408644002
xref: UMLS_CUI:C0278804
is_a: DOID:10021 ! duodenum cancer

[Term]
id: DOID:10817
name: sexual sadism
xref: ICD9CM:302.84
xref: MSH:D012448
xref: SNOMEDCT_2010_1_31:59394009
xref: UMLS_CUI:C0036913
is_a: DOID:0060043 ! sexual disorder

[Term]
id: DOID:10818
name: leptospiral meningitis
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Aseptic leptospiral meningitis" EXACT [MTHICD9_2006:100.81]
synonym: "Aseptic leptospiral meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:25957002]
synonym: "Leptospiral meningitis (aseptic)" EXACT [ICD9CM_2006:100.81]
synonym: "Leptospiral meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186956008]
xref: ICD9CM:100.81
xref: SNOMEDCT_2010_1_31:186956008
xref: SNOMEDCT_2010_1_31:192675001
xref: SNOMEDCT_2010_1_31:25957002
xref: UMLS_CUI:C0153232
is_obsolete: true

[Term]
id: DOID:1082
name: dirofilariasis
def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." [url:http\://emedicine.medscape.com/article/236698-overview]
subset: zoonotic_infectious_disease
synonym: "Dirofilaria infectious disease" EXACT [MTHICD9_2006:125.6]
synonym: "Infection by Dirofilaria (disorder)" EXACT [SNOMEDCT_2005_07_31:73328005]
xref: MSH:D004184
xref: SNOMEDCT_2010_1_31:73328005
xref: UMLS_CUI:C0012602
is_a: DOID:1080 ! filariasis

[Term]
id: DOID:10823
name: malignant essential hypertension
synonym: "Accelerated essential hypertension" EXACT [SNOMEDCT_2005_07_31:1218009]
synonym: "malignant Essential hypertension" EXACT [NCI2004_11_17:C34802]
synonym: "malignant essential hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:78975002]
xref: ICD9CM:401.0
xref: NCI:C34802
xref: SNOMEDCT_2010_1_31:1218009
xref: SNOMEDCT_2010_1_31:78975002
xref: UMLS_CUI:C0024588
is_a: DOID:10824 ! malignant hypertension
is_a: DOID:10825 ! essential hypertension

[Term]
id: DOID:10824
name: malignant hypertension
xref: MSH:D006974
xref: NCI:C3118
xref: SNOMEDCT_2010_1_31:155301003
xref: SNOMEDCT_2010_1_31:286951002
xref: SNOMEDCT_2010_1_31:70272006
xref: UMLS_CUI:C0020540
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:10825
name: essential hypertension
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Essential hypertension" EXACT [ICD9CM_2006:401]
synonym: "Essential hypertension" EXACT [SNOMEDCT_2005_07_31:155296003]
synonym: "Essential hypertension" EXACT [SNOMEDCT_2005_07_31:194757006]
synonym: "Essential hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:59621000]
synonym: "Essential hypertension NOS" EXACT [SNOMEDCT_2005_07_31:194760004]
synonym: "Essential hypertension NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266228004]
synonym: "idiopathic hypertension" EXACT [CSP2005:4003-0017]
synonym: "primary hypertension" EXACT [NCI2004_11_17:C3478]
synonym: "Unspecified essential hypertension" EXACT [ICD9CM_2006:401.9]
xref: ICD9CM:401
xref: ICD9CM:401.9
xref: NCI:C3478
xref: OMIM:145500
xref: SNOMEDCT_2010_1_31:155296003
xref: SNOMEDCT_2010_1_31:194757006
xref: SNOMEDCT_2010_1_31:194760004
xref: SNOMEDCT_2010_1_31:266228004
xref: SNOMEDCT_2010_1_31:59621000
xref: UMLS_CUI:C0085580
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:10827
name: gender identity disorder in adolescent or adult
xref: ICD9CM:302.85
xref: UMLS_CUI:C0154467
is_obsolete: true

[Term]
id: DOID:10834
name: voyeurism
xref: ICD9CM:302.82
xref: MSH:D014843
xref: SNOMEDCT_2010_1_31:192515002
xref: SNOMEDCT_2010_1_31:63835008
xref: UMLS_CUI:C0042979
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:10835
name: chylocele of tunica vaginalis
synonym: "Chylocele of tunica vaginalis (disorder)" EXACT [SNOMEDCT_2005_07_31:7864001]
xref: ICD9CM:608.84
xref: SNOMEDCT_2010_1_31:7864001
xref: UMLS_CUI:C0156315
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:10836
name: diabetes mellitus with hyperosmolarity
xref: ICD9CM:250.2
xref: UMLS_CUI:C0375121
is_obsolete: true

[Term]
id: DOID:10837
name: diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled
synonym: "Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled" EXACT [MTHICD9_2006:250.21]
synonym: "Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled" EXACT [ICD9CM_2006:250.21]
xref: ICD9CM:250.21
xref: UMLS_CUI:C0375123
is_obsolete: true

[Term]
id: DOID:10838
name: diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled
synonym: "Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled" EXACT [MTHICD9_2006:250.23]
synonym: "Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled" EXACT [ICD9CM_2006:250.23]
xref: ICD9CM:250.23
xref: UMLS_CUI:C0375125
is_obsolete: true

[Term]
id: DOID:10841
name: Eastern equine encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." [url:http\://www.cdc.gov/EasternEquineEncephalitis/index.html, url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.ncagr.gov/vet/FactSheets/EEE.htm]
subset: zoonotic_infectious_disease
synonym: "EEE" RELATED []
synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [SNOMEDCT_2005_07_31:417496004]
xref: ICD9CM:062.2
xref: MSH:D020242
xref: SNOMEDCT_2010_1_31:40177004
xref: SNOMEDCT_2010_1_31:416925005
xref: SNOMEDCT_2010_1_31:417496004
xref: UMLS_CUI:C0153065
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10842
name: Murray Valley encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness." [url:http\://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/13007862]
synonym: "Australian encephalitis" EXACT [ICD9CM_2006:062.4]
synonym: "Australian X disease" EXACT [MTHICD9_2006:062.4]
xref: ICD9CM:062.4
xref: SNOMEDCT_2010_1_31:66454007
xref: UMLS_CUI:C0153066
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10843
name: Western equine encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm]
subset: zoonotic_infectious_disease
synonym: "WEE" RELATED []
xref: ICD9CM:062.1
xref: MSH:D020241
xref: NCI:C85227
xref: SNOMEDCT_2010_1_31:47523006
xref: UMLS_CUI:C0153064
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10844
name: Japanese encephalitis
def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm]
synonym: "Japanese B encephalitis" EXACT [MTHICD9_2006:062.0]
xref: ICD9CM:062.0
xref: MSH:D004672
xref: NCI:C34577
xref: SNOMEDCT_2010_1_31:154345006
xref: SNOMEDCT_2010_1_31:266194002
xref: SNOMEDCT_2010_1_31:52947006
xref: UMLS_CUI:C0014057
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10845
name: St. Louis encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html]
synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [SNOMEDCT_2005_07_31:417607009]
xref: ICD9CM:062.3
xref: MSH:D004674
xref: SNOMEDCT_2010_1_31:10429004
xref: SNOMEDCT_2010_1_31:417192005
xref: SNOMEDCT_2010_1_31:417607009
xref: UMLS_CUI:C0014060
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10846
name: angiodysplasia of intestine
xref: ICD9CM:569.84
xref: SNOMEDCT_2010_1_31:235853006
xref: SNOMEDCT_2010_1_31:32868004
xref: UMLS_CUI:C0267367
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10848
name: intrauterine hypoxia and birth asphyxia
xref: SNOMEDCT_2010_1_31:85425003
xref: UMLS_CUI:C0270120
is_obsolete: true

[Term]
id: DOID:10849
name: sexual masochism
xref: ICD9CM:302.83
xref: MSH:D008398
xref: SNOMEDCT_2010_1_31:248104007
xref: SNOMEDCT_2010_1_31:51239001
xref: UMLS_CUI:C0036908
is_a: DOID:0060043 ! sexual disorder

[Term]
id: DOID:1085
name: Edwards syndrome
comment: OMIM mapping confirmed by DO. [LS].
synonym: "Complete trisomy 18 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:51500006]
synonym: "E3 Trisomy" EXACT [NCI2004_11_17:C36626]
synonym: "trisomy 18" EXACT []
xref: ICD9CM:758.2
xref: NCI:C36626
xref: SNOMEDCT_2010_1_31:157022000
xref: SNOMEDCT_2010_1_31:205626006
xref: SNOMEDCT_2010_1_31:254265001
xref: SNOMEDCT_2010_1_31:51500006
xref: UMLS_CUI:C0152096
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:10852
name: middle ear cholesterol granuloma
def: "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum." [url:http\://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16354369]
synonym: "Cholesterin granuloma" EXACT [SNOMEDCT_2005_07_31:28371001]
synonym: "Cholesterin granuloma of middle ear" EXACT [ICD9CM_2006:385.82]
synonym: "Cholesterin Granuloma of middle ear" EXACT [NCI2004_11_17:C3655]
xref: ICD9CM:385.82
xref: NCI:C3655
xref: SNOMEDCT_2010_1_31:28371001
xref: UMLS_CUI:C0155492
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:10854
name: salivary gland disease
alt_id: DOID:12898
synonym: "Non-neoplastic Salivary gland disease" EXACT [NCI2004_11_17:C27662]
synonym: "Salivary gland disease" EXACT []
xref: ICD9CM:527.8
xref: UMLS_CUI:C0029773
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:1086
name: congenital chromosomal disease
xref: ICD9CM:758
xref: ICD9CM:758.9
xref: MSH:D025063
xref: NCI:C34470
xref: SNOMEDCT_2010_1_31:157018005
xref: SNOMEDCT_2010_1_31:157023005
xref: SNOMEDCT_2010_1_31:205724000
xref: SNOMEDCT_2010_1_31:205729005
xref: SNOMEDCT_2010_1_31:409709004
xref: SNOMEDCT_2010_1_31:74345006
xref: UMLS_CUI:C0008626
is_obsolete: true

[Term]
id: DOID:10863
name: paralytic squint
synonym: "Incomitant dissociation" EXACT [SNOMEDCT_2005_07_31:155195008]
synonym: "Incomitant dissociation" EXACT [SNOMEDCT_2005_07_31:246745004]
synonym: "Incomitant dissociation (disorder)" EXACT [SNOMEDCT_2005_07_31:12942001]
synonym: "Paralytic squint NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194120005]
synonym: "Paralytic strabismus" EXACT [ICD9CM_2006:378.5]
synonym: "Paralytic strabismus (disorder)" EXACT [SNOMEDCT_2005_07_31:400942002]
synonym: "Paralytic strabismus, unspecified" EXACT [ICD9CM_2006:378.50]
synonym: "Unspecified paralytic strabismus (disorder)" EXACT [SNOMEDCT_2005_07_31:194117002]
xref: ICD9CM:378.5
xref: ICD9CM:378.50
xref: SNOMEDCT_2010_1_31:12942001
xref: SNOMEDCT_2010_1_31:194117002
xref: SNOMEDCT_2010_1_31:194120005
xref: SNOMEDCT_2010_1_31:400942002
xref: UMLS_CUI:C0152221
is_a: DOID:540 ! strabismus

[Term]
id: DOID:10864
name: partial third-nerve palsy
synonym: "Partial third nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:3171005]
synonym: "Third nerve palsy with pupil sparing" EXACT [SNOMEDCT_2005_07_31:194118007]
synonym: "Third or oculomotor nerve palsy, partial" EXACT [ICD9CM_2006:378.51]
xref: ICD9CM:378.51
xref: MSH:D015840
xref: SNOMEDCT_2010_1_31:194118007
xref: SNOMEDCT_2010_1_31:3171005
xref: SNOMEDCT_2010_1_31:420289002
xref: UMLS_CUI:C0271370
is_a: DOID:10863 ! paralytic squint

[Term]
id: DOID:10865
name: abducens nerve disease
synonym: "Abducens nerve disorder" EXACT [SNOMEDCT_2005_07_31:398925009]
synonym: "Abducens nerve weakness" EXACT [SNOMEDCT_2005_07_31:398963001]
synonym: "disorder of abducent nerve" EXACT [SNOMEDCT_2005_07_31:230533001]
synonym: "Lateral rectus muscle denervation paresis" EXACT [SNOMEDCT_2005_07_31:398760006]
synonym: "Lateral rectus muscle denervation paresis" EXACT [SNOMEDCT_2005_07_31:46587002]
synonym: "Lateral rectus muscle innervation disorder" EXACT [SNOMEDCT_2005_07_31:4892003]
synonym: "Sixth cranial nerve disorder, NOS" EXACT [SNOMEDCT_2005_07_31:82373004]
synonym: "Sixth nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:14720007]
synonym: "Sixth or abducens nerve palsy" EXACT [ICD9CM_2006:378.54]
synonym: "VIth nerve disorder" EXACT [NCI2004_11_17:C27593]
synonym: "VIth nerve Paralysis" EXACT [NCI2004_11_17:C27592]
xref: ICD9CM:378.54
xref: MSH:D020434
xref: NCI:C27592
xref: NCI:C27593
xref: SNOMEDCT_2010_1_31:14720007
xref: SNOMEDCT_2010_1_31:230533001
xref: SNOMEDCT_2010_1_31:398760006
xref: SNOMEDCT_2010_1_31:398925009
xref: SNOMEDCT_2010_1_31:398963001
xref: SNOMEDCT_2010_1_31:46587002
xref: SNOMEDCT_2010_1_31:4892003
xref: SNOMEDCT_2010_1_31:82373004
xref: UMLS_CUI:C0271355
is_a: DOID:3817 ! cranial nerve palsy

[Term]
id: DOID:10866
name: total third-nerve palsy
synonym: "Third nerve palsy with pupil involved" EXACT [SNOMEDCT_2005_07_31:194119004]
synonym: "Third or oculomotor nerve palsy, total" EXACT [ICD9CM_2006:378.52]
synonym: "Total third nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:85522003]
xref: ICD9CM:378.52
xref: MSH:D015840
xref: SNOMEDCT_2010_1_31:194119004
xref: SNOMEDCT_2010_1_31:85522003
xref: UMLS_CUI:C0271371
is_a: DOID:10863 ! paralytic squint

[Term]
id: DOID:10869
name: fourth cranial nerve palsy
synonym: "Fourth nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:20610004]
synonym: "Fourth or trochlear nerve palsy" EXACT [ICD9CM_2006:378.53]
xref: UMLS_CUI:C0152176
is_a: DOID:10863 ! paralytic squint

[Term]
id: DOID:10871
name: age related macular degeneration
def: "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision." [url:http\://en.wikipedia.org/wiki/Macular_degeneration, url:http\://www.nei.nih.gov/health/maculardegen/armd_facts.asp]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "age-related macular degeneration" EXACT []
synonym: "Senile macular degeneration" EXACT [SNOMEDCT_2005_07_31:193384000]
synonym: "Senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:302891003]
xref: EFO:0001365
xref: ICD9CM:362.50
xref: MSH:D008268
xref: NCI:C84391
xref: OMIM:153800
xref: OMIM:603075
xref: OMIM:608895
xref: OMIM:610149
xref: OMIM:610698
xref: OMIM:611378
xref: OMIM:611488
xref: OMIM:611953
xref: OMIM:613757
xref: OMIM:613761
xref: OMIM:613778
xref: OMIM:613784
xref: SNOMEDCT_2010_1_31:155112007
xref: SNOMEDCT_2010_1_31:18222007
xref: SNOMEDCT_2010_1_31:193384000
xref: SNOMEDCT_2010_1_31:193385004
xref: SNOMEDCT_2010_1_31:267718000
xref: UMLS_CUI:C0242383
is_a: DOID:2007 ! degeneration of macula and posterior pole

[Term]
id: DOID:10873
name: Kuhnt-Junius degeneration
synonym: "Exudative senile macular degeneration of retina" EXACT [ICD9CM_2006:362.52]
synonym: "Kuhnt-Junius degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:11290001]
synonym: "Neovascular age-related macular degeneration" EXACT [SNOMEDCT_2005_07_31:414173003]
synonym: "Senile macular degeneration, wet" EXACT [MTHICD9_2006:362.52]
synonym: "Wet senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:16018000]
xref: ICD9CM:362.52
xref: SNOMEDCT_2010_1_31:11290001
xref: SNOMEDCT_2010_1_31:16018000
xref: SNOMEDCT_2010_1_31:414173003
xref: UMLS_CUI:C0271084
is_a: DOID:2007 ! degeneration of macula and posterior pole

[Term]
id: DOID:10875
name: premature labor
synonym: "LABOR PREMATURE" EXACT [MTH:NOCODE]
synonym: "Labour - premature" EXACT [SNOMEDCT_2005_07_31:156118001]
synonym: "Labour - premature" EXACT [SNOMEDCT_2005_07_31:267310009]
synonym: "premature labor" EXACT [CSP2005:2401-7840]
synonym: "Premature labor (finding)" EXACT [SNOMEDCT_2005_07_31:6383007]
synonym: "Premature labour" EXACT [SNOMEDCT_2005_07_31:156120003]
synonym: "Premature labour" EXACT [SNOMEDCT_2005_07_31:199046005]
xref: MSH:D007752
xref: NCI:C50917
xref: OMIM:MTHU010515
xref: SNOMEDCT_2010_1_31:156118001
xref: SNOMEDCT_2010_1_31:156120003
xref: SNOMEDCT_2010_1_31:199046005
xref: SNOMEDCT_2010_1_31:267310009
xref: SNOMEDCT_2010_1_31:6383007
xref: UMLS_CUI:C0022876
is_obsolete: true

[Term]
id: DOID:10877
name: disorganized type schizophrenia chronic state with acute exacerbation
xref: ICD9CM:295.14
xref: UMLS_CUI:C0154347
is_obsolete: true

[Term]
id: DOID:1088
name: meningocele
synonym: "Meningocele (disorder)" EXACT [SNOMEDCT_2005_07_31:171131006]
synonym: "Meningocele [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:253121009]
synonym: "Meningocele, NOS" EXACT [SNOMEDCT_2005_07_31:32941003]
xref: MSH:D008588
xref: SNOMEDCT_2010_1_31:156890007
xref: SNOMEDCT_2010_1_31:171131006
xref: SNOMEDCT_2010_1_31:253121009
xref: SNOMEDCT_2010_1_31:268308005
xref: SNOMEDCT_2010_1_31:32941003
xref: UMLS_CUI:C0025299
is_a: DOID:0080016 ! spina bifida

[Term]
id: DOID:10880
name: iliac vein thrombophlebitis
synonym: "Phlebitis and thrombophlebitis of the iliac vein NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195429006]
xref: ICD9CM:451.81
xref: SNOMEDCT_2010_1_31:195429006
xref: UMLS_CUI:C0155772
is_a: DOID:3875 ! thrombophlebitis

[Term]
id: DOID:10881
name: hand, foot and mouth disease
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." [url:http\://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm]
synonym: "Vesicular stomatitis and exanthem" EXACT [MTHICD9_2006:074.3]
xref: ICD9CM:074.3
xref: MSH:D006232
xref: SNOMEDCT_2010_1_31:154357002
xref: SNOMEDCT_2010_1_31:175497008
xref: SNOMEDCT_2010_1_31:186664000
xref: SNOMEDCT_2010_1_31:266108008
xref: SNOMEDCT_2010_1_31:67171006
xref: UMLS_CUI:C0018572
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10882
name: epidemic pleurodynia
def: "A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." [url:http\://emedicine.medscape.com/article/300049-overview]
synonym: "Bamble disease" EXACT []
synonym: "Bornholm disease" EXACT []
synonym: "devil's grip" EXACT []
synonym: "epidemic myalgia" EXACT []
synonym: "Epidemic pleurisy" EXACT [SNOMEDCT_2005_07_31:154356006]
synonym: "Epidemic, myositis" EXACT [MTHICD9_2006:074.1]
xref: ICD9CM:074.1
xref: MSH:D011000
xref: SNOMEDCT_2010_1_31:154356006
xref: SNOMEDCT_2010_1_31:83264000
xref: UMLS_CUI:C0032238
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10883
name: herpangina
def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [url:http\://emedicine.medscape.com/article/218502-overview, url:http\://en.wikipedia.org/wiki/Herpangina, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000969.htm]
synonym: "Vesicular pharyngitis" EXACT [MTHICD9_2006:074.0]
xref: ICD9CM:074.0
xref: MSH:D006557
xref: SNOMEDCT_2010_1_31:154358007
xref: SNOMEDCT_2010_1_31:186659004
xref: SNOMEDCT_2010_1_31:266197009
xref: SNOMEDCT_2010_1_31:274102007
xref: SNOMEDCT_2010_1_31:37428001
xref: UMLS_CUI:C0019338
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10887
name: lepromatous leprosy
def: "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217]
subset: gram-positive_bacterial_infectious_disease
synonym: "Lepromatous leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:21560005]
synonym: "Lepromatous leprosy [type L]" EXACT [ICD9CM_2006:030.0]
synonym: "type L leprosy" EXACT [MTHICD9_2006:030.0]
xref: ICD9CM:030.0
xref: MSH:D015440
xref: SNOMEDCT_2010_1_31:21560005
xref: UMLS_CUI:C0023348
is_a: DOID:1024 ! leprosy

[Term]
id: DOID:1089
name: tethered spinal cord syndrome
comment: OMIM mapping confirmed by DO. [LS].
synonym: "spinal dysraphism" EXACT []
xref: ICD9CM:741
xref: MSH:D016135
xref: SNOMEDCT_2010_1_31:156888006
xref: SNOMEDCT_2010_1_31:204017003
xref: SNOMEDCT_2010_1_31:67531005
xref: UMLS_CUI:C0080178
is_a: DOID:319 ! spinal cord disease

[Term]
id: DOID:10892
name: hypospadias
def: "A physical disorder characterized_by an abnormally placed urethral opening on the underside of the penis or on the perineum." [url:http\://en.wikipedia.org/wiki/Hypospadias, url:http\://ghr.nlm.nih.gov/glossary=hypospadias]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "familial hypospadias" EXACT []
xref: EFOpat_id:3299
xref: ICD10CM:Q54
xref: ICD9CM:752.6
xref: MSH:D007021
xref: OMIM:146450
xref: OMIM:300633
xref: OMIM:300758
xref: OMIM:300856
xref: ORDO:440
xref: UMLS_CUI:C0020646
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:10901
name: leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
synonym: "Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb" EXACT [ICD9CM_2006:202.44]
synonym: "Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188648000]
synonym: "Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93147005]
xref: ICD9CM:202.44
xref: SNOMEDCT_2010_1_31:188648000
xref: SNOMEDCT_2010_1_31:93147005
xref: UMLS_CUI:C0153829
is_obsolete: true

[Term]
id: DOID:10902
name: pulmonary actinomycosis
def: "An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000074.htm]
subset: gram-positive_bacterial_infectious_disease
synonym: "pulmonary actinomycotic infection" EXACT [ICD9CM_2006:039.1]
synonym: "thoracic actinomycosis" EXACT []
xref: ICD9CM:039.1
xref: SNOMEDCT_2010_1_31:21846001
xref: UMLS_CUI:C0275566
is_obsolete: true

[Term]
id: DOID:10907
name: microcephaly
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Microcephalus" EXACT [ICD9CM_2006:742.1]
synonym: "microencephaly" EXACT [CSP2005:0723-5649]
xref: ICD9CM:742.1
xref: MSH:D008831
xref: NCI:C85874
xref: OMIM:251200
xref: OMIM:604321
xref: OMIM:604804
xref: OMIM:608393
xref: OMIM:608716
xref: OMIM:612703
xref: SNOMEDCT_2010_1_31:156893009
xref: SNOMEDCT_2010_1_31:1829003
xref: SNOMEDCT_2010_1_31:204030002
xref: SNOMEDCT_2010_1_31:204031003
xref: UMLS_CUI:C0025958
is_a: DOID:2490 ! congenital nervous system abnormality

[Term]
id: DOID:10908
name: hydrocephalus
def: "A cerebral degeneration characterized_by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head." [url:http\://en.wikipedia.org/wiki/Hydrocephalus, url:http\://ghr.nlm.nih.gov/glossary=hydrocephalus, url:http\://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "hydrocephalus, nonsyndromic, autosomal recessive" EXACT [OMIM:236600]
synonym: "hydrocephalus, X-linked" EXACT [MSH:C536078]
xref: ICD10CM:G91
xref: ICD10CM:Q03
xref: ICD9CM:331.3
xref: ICD9CM:331.4
xref: ICD9CM:741.0
xref: ICD9CM:742.3
xref: MSH:C536078
xref: MSH:D006849
xref: NCI:C3111
xref: OMIM:123155
xref: OMIM:236600
xref: OMIM:236635
xref: OMIM:307000
xref: OMIM:615219
xref: ORDO:2182
xref: ORDO:2185
xref: SNOMEDCT_2010_1_31:154995000
xref: SNOMEDCT_2010_1_31:154997008
xref: SNOMEDCT_2010_1_31:192807008
xref: SNOMEDCT_2010_1_31:230745008
xref: SNOMEDCT_2010_1_31:267687006
xref: UMLS_CUI:C0020255
is_a: DOID:1443 ! cerebral degeneration
is_a: DOID:9428 ! intracranial hypertension

[Term]
id: DOID:1091
name: tooth disease
synonym: "dental disorder" EXACT [CSP2005:0828-0533]
xref: MSH:D014076
xref: NCI:C35077
xref: SNOMEDCT_2010_1_31:155631000
xref: SNOMEDCT_2010_1_31:234947003
xref: SNOMEDCT_2010_1_31:266485001
xref: SNOMEDCT_2010_1_31:367503003
xref: SNOMEDCT_2010_1_31:72722003
xref: UMLS_CUI:C0040435
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:10910
name: echovirus meningitis
def: "A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf]
xref: ICD9CM:047.1
xref: SNOMEDCT_2010_1_31:186488005
xref: SNOMEDCT_2010_1_31:192667007
xref: UMLS_CUI:C0338388
is_obsolete: true

[Term]
id: DOID:10911
name: echovirus infectious disease
def: "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." [url:http\://en.wikipedia.org/wiki/Echovirus]
synonym: "Enteric cytopathic human orphan virus infection" RELATED []
xref: MSH:D004457
xref: SNOMEDCT_2010_1_31:154371005
xref: SNOMEDCT_2010_1_31:266203007
xref: SNOMEDCT_2010_1_31:271532008
xref: UMLS_CUI:C0013533
is_obsolete: true

[Term]
id: DOID:10913
name: benign essential hypertension
synonym: "benign Essential hypertension" EXACT [NCI2004_11_17:C3656]
synonym: "benign essential hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:1201005]
xref: ICD9CM:401.1
xref: NCI:C3656
xref: SNOMEDCT_2010_1_31:1201005
xref: SNOMEDCT_2010_1_31:194758001
xref: UMLS_CUI:C0155583
is_a: DOID:10825 ! essential hypertension

[Term]
id: DOID:10914
name: amnestic disorder
alt_id: DOID:4544
def: "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information." [url:http\://en.wikipedia.org/wiki/Amnesia, url:http\://www.minddisorders.com/A-Br/Amnestic-disorders.html]
synonym: "amnesia" EXACT []
synonym: "Amnestic syndrome" EXACT [NCI2004_11_17:C35764]
synonym: "Korsakoff's psychosis or syndrome" EXACT [MTHICD9_2006:294.0]
xref: MSH:D000647
xref: NCI:C2867
xref: SNOMEDCT_2010_1_31:162199006
xref: SNOMEDCT_2010_1_31:247606008
xref: SNOMEDCT_2010_1_31:3298001
xref: SNOMEDCT_2010_1_31:386807006
xref: SNOMEDCT_2010_1_31:48167000
xref: SNOMEDCT_2010_1_31:78461004
xref: UMLS_CUI:C0002622
xref: UMLS_CUI:C0002625
is_a: DOID:1561 ! cognitive disorder

[Term]
id: DOID:10915
name: Wernicke-Korsakoff syndrome
comment: OMIM mapping confirmed by DO. [LS].
synonym: "Korsakoff Syndrome" EXACT []
synonym: "Korsakoff's psychosis (disorder)" EXACT [SNOMEDCT_2005_07_31:69482004]
synonym: "Korsakoff's syndrome" EXACT [CSP2005:2042-6017]
synonym: "Korsakov psychosis" EXACT [SNOMEDCT_2005_07_31:191470004]
synonym: "Korsakov's psychosis" EXACT [SNOMEDCT_2005_07_31:268745002]
xref: MSH:D020915
xref: NCI:C35764
xref: NCI:C84803
xref: OMIM:277730
xref: SNOMEDCT_2010_1_31:154854002
xref: SNOMEDCT_2010_1_31:191470004
xref: SNOMEDCT_2010_1_31:191472007
xref: SNOMEDCT_2010_1_31:268745002
xref: SNOMEDCT_2010_1_31:69482004
xref: UMLS_CUI:C0349464
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:10918
name: transsexuality with asexual history
synonym: "Trans-sexualism with asexual history" EXACT [ICD9CM_2006:302.51]
synonym: "Transsexuality with asexual history (disorder)" EXACT [SNOMEDCT_2005_07_31:191783002]
xref: ICD9CM:302.51
xref: SNOMEDCT_2010_1_31:191783002
xref: UMLS_CUI:C0154462
is_obsolete: true

[Term]
id: DOID:10919
name: transsexualism
def: "A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex." [url:http\://en.wikipedia.org/wiki/Transsexualism]
xref: ICD9CM:302.50
xref: SNOMEDCT_2010_1_31:191782007
xref: UMLS_CUI:C0040630
is_a: DOID:1234 ! gender identity disorder

[Term]
id: DOID:10921
name: Siberian tick typhus
alt_id: DOID:0050054
alt_id: DOID:0050055
def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "manchurian typhus" EXACT []
synonym: "North Asian tick fever" EXACT [ICD9CM_2006:082.2]
synonym: "North Asian tick fever (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:7692008]
synonym: "North Asian tick fever NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186783000]
synonym: "North Asian tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:186781003]
synonym: "Rickettsia sibirica spotted fever" EXACT []
synonym: "Siberian tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:186782005]
xref: ICD9CM:082.2
xref: SNOMEDCT_2010_1_31:186781003
xref: SNOMEDCT_2010_1_31:186782005
xref: SNOMEDCT_2010_1_31:186783000
xref: SNOMEDCT_2010_1_31:7692008
xref: UMLS_CUI:C0549160
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:10922
name: sickle-cell crisis
synonym: "Hb-S disease with mention of crisis" EXACT [ICD9CM_2006:282.62]
synonym: "Hemoglobin S disease with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:72279006]
synonym: "Hemoglobin SS disease with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:417425009]
synonym: "Sickle cell anemia with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:191197002]
synonym: "sickle cell crisis" EXACT [CSP2005:1418-5715]
xref: ICD9CM:282.62
xref: SNOMEDCT_2010_1_31:191197002
xref: SNOMEDCT_2010_1_31:417425009
xref: SNOMEDCT_2010_1_31:72279006
xref: UMLS_CUI:C0238425
is_obsolete: true

[Term]
id: DOID:10923
name: sickle cell anemia
alt_id: DOID:12924
alt_id: DOID:13024
comment: OMIM mapping confirmed by DO. [LS].
synonym: "drepanocytosis" EXACT []
synonym: "Hb SC disease" EXACT [SNOMEDCT_2005_07_31:35434009]
synonym: "Hb-S/Hb-C disease" EXACT [MTHICD9_2006:282.63]
synonym: "Hb-SS disease without crisis" EXACT []
synonym: "Hemoglobin S disease without crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:21976009]
synonym: "hemoglobin SC disease" EXACT []
synonym: "Sickle-cell/Hb-C disease without crisis" EXACT [ICD9CM_2006:282.63]
xref: EFOpat_id:125
xref: ICD9CM:282.6
xref: ICD9CM:282.60
xref: MSH:D000755
xref: NCI:C34383
xref: OMIM:603903
xref: SNOMEDCT_2010_1_31:127040003
xref: SNOMEDCT_2010_1_31:154798006
xref: SNOMEDCT_2010_1_31:191194009
xref: SNOMEDCT_2010_1_31:191195005
xref: SNOMEDCT_2010_1_31:191199004
xref: SNOMEDCT_2010_1_31:276267006
xref: SNOMEDCT_2010_1_31:35434009
xref: SNOMEDCT_2010_1_31:417357006
xref: SNOMEDCT_2010_1_31:80046004
xref: UMLS_CUI:C0002895
xref: UMLS_CUI:C0019034
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:10924
name: catatonic type schizophrenia chronic state
xref: ICD9CM:295.22
xref: UMLS_CUI:C0154350
is_obsolete: true

[Term]
id: DOID:10925
name: catatonic schizophrenia
xref: ICD9CM:295.2
xref: MSH:D012560
xref: NCI:C35003
xref: SNOMEDCT_2010_1_31:154868009
xref: SNOMEDCT_2010_1_31:191542003
xref: SNOMEDCT_2010_1_31:191543008
xref: SNOMEDCT_2010_1_31:191550007
xref: SNOMEDCT_2010_1_31:192321002
xref: SNOMEDCT_2010_1_31:76839006
xref: UMLS_CUI:C0036344
is_obsolete: true

[Term]
id: DOID:10927
name: gastrojejunal ulcer
alt_id: DOID:10926
alt_id: DOID:10928
alt_id: DOID:10929
alt_id: DOID:12230
alt_id: DOID:12232
alt_id: DOID:14085
alt_id: DOID:14137
alt_id: DOID:9522
alt_id: DOID:9523
alt_id: DOID:9524
synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:72408002]
synonym: "acute gastrojejunal ulcer with hemorrhage AND perforation" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:58711008]
synonym: "acute gastrojejunal ulcer with perforation" EXACT []
synonym: "acute gastrojejunal ulcer with perforation AND obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with perforation AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:72219001]
synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [ICD9CM_2006:534.11]
synonym: "acute gastrojejunal ulcer without hemorrhage AND without perforation" EXACT []
synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT []
synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:77987006]
synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [ICD9CM_2006:534.30]
synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [ICD9CM_2006:534.01]
synonym: "chronic gastrojejunal ulcer without hemorrhage AND without perforation" EXACT []
synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT []
synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:41626001]
synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [ICD9CM_2006:534.70]
xref: ICD9CM:534.0
xref: SNOMEDCT_2010_1_31:196709002
xref: SNOMEDCT_2010_1_31:63954007
xref: UMLS_CUI:C0156042
is_a: DOID:750 ! peptic ulcer disease

[Term]
id: DOID:10930
name: borderline personality disorder
def: "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods." [url:http\://en.wikipedia.org/wiki/Borderline_personality_disorder]
xref: ICD9CM:301.83
xref: MSH:D001883
xref: SNOMEDCT_2010_1_31:192488005
xref: SNOMEDCT_2010_1_31:20010003
xref: UMLS_CUI:C0006012
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10931
name: dependent personality disorder
def: "A personality disorder that is characterized by a pervasive psychological dependence on other people." [url:http\://en.wikipedia.org/wiki/Dependent_personality_disorder]
xref: ICD9CM:301.6
xref: MSH:D003859
xref: SNOMEDCT_2010_1_31:191768007
xref: SNOMEDCT_2010_1_31:192492003
xref: SNOMEDCT_2010_1_31:84466009
xref: UMLS_CUI:C0011548
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10932
name: obsessive-compulsive personality disorder
def: "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency." [url:http\://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder]
synonym: "Anankastic personality disorder" RELATED [SNOMEDCT_2005_07_31:191762008]
synonym: "Obsessional personality" RELATED [MTHICD9_2006:301.4]
synonym: "OCPD" EXACT []
xref: ICD9CM:301.4
xref: MSH:D003193
xref: SNOMEDCT_2010_1_31:112091009
xref: SNOMEDCT_2010_1_31:1376001
xref: SNOMEDCT_2010_1_31:154899005
xref: SNOMEDCT_2010_1_31:191760000
xref: SNOMEDCT_2010_1_31:191761001
xref: SNOMEDCT_2010_1_31:191762008
xref: SNOMEDCT_2010_1_31:192490006
xref: SNOMEDCT_2010_1_31:271200007
xref: UMLS_CUI:C0009595
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10933
name: obsessive-compulsive disorder
def: "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)." [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001926/]
synonym: "Anancastic neurosis" EXACT [MTHICD9_2006:300.3]
synonym: "obsessive compulsive disorder" EXACT []
xref: ICD9CM:300.3
xref: MSH:D009771
xref: SNOMEDCT_2010_1_31:191736004
xref: SNOMEDCT_2010_1_31:191739006
xref: SNOMEDCT_2010_1_31:192406007
xref: SNOMEDCT_2010_1_31:192411009
xref: SNOMEDCT_2010_1_31:71478004
xref: UMLS_CUI:C0028768
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:10934
name: multiple personality disorder
def: "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities." [url:http\://en.wikipedia.org/wiki/Dissociative_identity_disorder]
synonym: "Dissociative identity disorder" EXACT [ICD9CM_2006:300.14]
xref: ICD9CM:300.14
xref: MSH:D009105
xref: SNOMEDCT_2010_1_31:192428007
xref: SNOMEDCT_2010_1_31:31611000
xref: UMLS_CUI:C0026773
is_a: DOID:10935 ! dissociative disorder

[Term]
id: DOID:10935
name: dissociative disorder
alt_id: DOID:4963
def: "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)." [url:http\://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html]
synonym: "dissociative disease" EXACT []
synonym: "dissociative reaction" EXACT [CSP2005:2483-7018]
xref: ICD9CM:300.15
xref: MSH:D004213
xref: SNOMEDCT_2010_1_31:154883004
xref: SNOMEDCT_2010_1_31:44376007
xref: UMLS_CUI:C0012746
xref: UMLS_CUI:C0041857
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:10936
name: schizoid personality disorder
def: "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world." [url:http\://en.wikipedia.org/wiki/Schizoid_personality_disorder]
xref: ICD9CM:301.2
xref: ICD9CM:301.20
xref: MSH:D012557
xref: SNOMEDCT_2010_1_31:191756003
xref: SNOMEDCT_2010_1_31:191758002
xref: SNOMEDCT_2010_1_31:192486009
xref: SNOMEDCT_2010_1_31:52954000
xref: UMLS_CUI:C0036339
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10937
name: impulse control disorder
def: "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others." [url:http\://www.forensicpsychiatry.ca/impulse/overview.htm]
xref: ICD9CM:312.30
xref: MSH:D007174
xref: NCI:C34723
xref: SNOMEDCT_2010_1_31:192095006
xref: SNOMEDCT_2010_1_31:192098008
xref: SNOMEDCT_2010_1_31:66347000
xref: UMLS_CUI:C0021122
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:10938
name: paranoid personality disorder
def: "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others." [url:http\://en.wikipedia.org/wiki/Paranoid_personality_disorder]
xref: ICD9CM:301.0
xref: MSH:D010260
xref: SNOMEDCT_2010_1_31:13601005
xref: SNOMEDCT_2010_1_31:154896003
xref: SNOMEDCT_2010_1_31:191750009
xref: SNOMEDCT_2010_1_31:192485008
xref: SNOMEDCT_2010_1_31:270529002
xref: UMLS_CUI:C0030477
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10939
name: antisocial personality disorder
def: "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood." [url:http\://en.wikipedia.org/wiki/Antisocial_personality_disorder]
synonym: "Asocial personality" EXACT [MTHICD9_2006:301.7]
synonym: "Dissocial personality disorder" EXACT [SNOMEDCT_2005_07_31:192487000]
synonym: "Psychopath.personality" EXACT [SNOMEDCT_2005_07_31:268759009]
synonym: "Psychopathic personality" EXACT [SNOMEDCT_2005_07_31:191777000]
synonym: "Psychopathic personality disorder" EXACT [MTHICD9_2006:301.9]
synonym: "sociopathic personality" EXACT [CSP2005:2483-7185]
xref: ICD9CM:301.7
xref: MSH:D000987
xref: SNOMEDCT_2010_1_31:191769004
xref: SNOMEDCT_2010_1_31:191777000
xref: SNOMEDCT_2010_1_31:192487000
xref: SNOMEDCT_2010_1_31:26665006
xref: SNOMEDCT_2010_1_31:268759009
xref: UMLS_CUI:C0003431
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:1094
name: attention deficit hyperactivity disorder
alt_id: DOID:1093
def: "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone\" and symptoms starting before seven years of age." [url:http\://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder]
comment: Xref MGI.
synonym: "ADHD" EXACT []
synonym: "attention deficit disorder" EXACT []
synonym: "hyperkinetic disorder" EXACT []
xref: EFO:0003888
xref: ICD10CM:F90
xref: ICD9CM:314.00
xref: MSH:D001289
xref: NCI:C35092
xref: OMIM:143465
xref: OMIM:608903
xref: OMIM:608904
xref: OMIM:608905
xref: OMIM:608906
xref: OMIM:612311
xref: OMIM:612312
xref: OMIM:613003
xref: SNOMEDCT_2010_1_31:23148009
xref: UMLS_CUI:C0041671
xref: UMLS_CUI:C0154629
is_a: DOID:0060038 ! specific developmental disorder

[Term]
id: DOID:10941
name: intracranial aneurysm
synonym: "brain aneurysm" EXACT []
xref: EFO:0003870
xref: MSH:D002532
xref: NCI:C34458
xref: SNOMEDCT_2010_1_31:128609009
xref: SNOMEDCT_2010_1_31:42994005
xref: UMLS_CUI:C0007766
is_a: DOID:3527 ! cerebral arterial disease

[Term]
id: DOID:10944
name: tongue disease
xref: ICD9CM:529.9
xref: MSH:D014060
xref: SNOMEDCT_2010_1_31:155533008
xref: SNOMEDCT_2010_1_31:155665004
xref: SNOMEDCT_2010_1_31:155667007
xref: SNOMEDCT_2010_1_31:196595001
xref: SNOMEDCT_2010_1_31:266496009
xref: SNOMEDCT_2010_1_31:69244009
xref: UMLS_CUI:C0040409
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:10952
name: nephritis
xref: MSH:D009393
xref: NCI:C26833
xref: SNOMEDCT_2010_1_31:155853001
xref: SNOMEDCT_2010_1_31:266615001
xref: SNOMEDCT_2010_1_31:274107001
xref: SNOMEDCT_2010_1_31:52845002
xref: UMLS_CUI:C0027697
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:10955
name: strongyloidiasis
alt_id: DOID:0050008
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." [url:http\://en.wikipedia.org/wiki/Strongyloidiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm]
synonym: "disseminated strongyloidiasis" EXACT []
synonym: "Infection by Strongyloides (disorder)" EXACT [SNOMEDCT_2005_07_31:1214006]
xref: ICD9CM:127.2
xref: MSH:D013322
xref: SNOMEDCT_2010_1_31:1214006
xref: SNOMEDCT_2010_1_31:187177001
xref: SNOMEDCT_2010_1_31:187537002
xref: UMLS_CUI:C0038463
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:10957
name: Enterobacter aerogenes intestinal infectious disease
def: "An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers." [url:http\://emedicine.medscape.com/article/216845-overview]
synonym: "intestinal infection due to aerobacter aerogenes" EXACT [ICD9CM_2006:008.2]
xref: ICD9CM:008.2
xref: SNOMEDCT_2010_1_31:9689002
xref: UMLS_CUI:C0276058
is_obsolete: true

[Term]
id: DOID:10958
name: Salmonella arizonae intestinal infectious disease
def: "A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14662995]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "intestinal infectious disease due to arizona group of paracolon bacilli" EXACT []
xref: ICD9CM:008.1
xref: UMLS_CUI:C0152511
is_obsolete: true

[Term]
id: DOID:10959
name: Escherichia coli intestinal infectious disease
def: "A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html, url:http\://www.who.int/mediacentre/factsheets/fs125/en/]
subset: gram-negative_bacterial_infectious_disease
synonym: "intestinal infectious disease due to Escherichia coli" EXACT []
xref: ICD9CM:008.0
xref: ICD9CM:008.00
xref: SNOMEDCT_2010_1_31:111839008
xref: UMLS_CUI:C0341558
is_obsolete: true

[Term]
id: DOID:10963
name: cholesteatoma of attic
xref: ICD9CM:385.31
xref: SNOMEDCT_2010_1_31:38708003
xref: UMLS_CUI:C0155489
is_a: DOID:10964 ! cholesteatoma of middle ear

[Term]
id: DOID:10964
name: cholesteatoma of middle ear
synonym: "Cholesteatoma of middle ear and mastoid" EXACT [ICD9CM_2006:385.3]
synonym: "Cholesteatoma of middle ear and mastoid" EXACT [ICD9CM_2006:385.33]
synonym: "Cholesteatoma of middle ear AND mastoid (disorder)" EXACT [SNOMEDCT_2005_07_31:194339007]
synonym: "Cholesteatoma of middle ear and mastoid NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194340009]
synonym: "Cholesteatoma of middle ear and/or mastoid" EXACT [SNOMEDCT_2005_07_31:360584008]
synonym: "Cholesteatoma of middle ear and/or mastoid" EXACT [SNOMEDCT_2005_07_31:39911004]
xref: ICD9CM:385.3
xref: ICD9CM:385.33
xref: SNOMEDCT_2010_1_31:194339007
xref: SNOMEDCT_2010_1_31:194340009
xref: SNOMEDCT_2010_1_31:360584008
xref: SNOMEDCT_2010_1_31:39911004
xref: UMLS_CUI:C0008374
is_a: DOID:869 ! cholesteatoma

[Term]
id: DOID:10965
name: spastic diplegia
alt_id: DOID:3778
def: "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk." [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic]
synonym: "cerebral spastic infantile paralysis" EXACT [CSP2005:0723-4729]
synonym: "Diplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.0]
synonym: "infantile diplegic cerebral palsy" EXACT []
synonym: "Infantile spastic cerebral palsy" EXACT [SNOMEDCT_2005_07_31:1178005]
synonym: "Little's disease" EXACT []
synonym: "Littles disease" EXACT [SNOMEDCT_2005_07_31:192947000]
synonym: "Spastic Diplegia" EXACT [NCI2004_11_17:C34781]
synonym: "Spastic diplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:281411007]
xref: MSH:D002547
xref: NCI:C34781
xref: SNOMEDCT_2010_1_31:1178005
xref: SNOMEDCT_2010_1_31:192947000
xref: SNOMEDCT_2010_1_31:281411007
xref: UMLS_CUI:C0023882
xref: UMLS_CUI:C0154695
is_a: DOID:0050669 ! spastic cerebral palsy

[Term]
id: DOID:10966
name: lipoid nephrosis
synonym: "Minimal change disease (disorder)" EXACT [SNOMEDCT_2005_07_31:44785005]
synonym: "Minimal Change Glomerulonephritis" EXACT [NCI2004_11_17:C34844]
synonym: "Nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [ICD9CM_2006:581.3]
synonym: "Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis" EXACT [NCI2004_11_17:C35540]
synonym: "Nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [MTHICD9_2006:581.3]
xref: MSH:D009402
xref: SNOMEDCT_2010_1_31:197592009
xref: SNOMEDCT_2010_1_31:44785005
xref: UMLS_CUI:C0027721
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:10967
name: spastic hemiplegia
def: "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally." [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic]
synonym: "Congenital hemiplegia" EXACT [MTHICD9_2006:343.1]
synonym: "hemiplegic cerebral palsy" EXACT []
synonym: "Hemiplegic cerebral palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:43486001]
synonym: "Hemiplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.1]
synonym: "spastic hemiplegic cerebral palsy" EXACT []
xref: ICD9CM:343.1
xref: SNOMEDCT_2010_1_31:258714003
xref: SNOMEDCT_2010_1_31:43486001
xref: UMLS_CUI:C0270805
is_a: DOID:0050669 ! spastic cerebral palsy

[Term]
id: DOID:10968
name: spastic monoplegia
def: "A spastic cerebral palsy that affects only one limb." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic]
synonym: "infantile monoplegic cerebral palsy" EXACT []
synonym: "Monoplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.3]
synonym: "spastic monoplegic cerebral palsy" EXACT []
xref: ICD9CM:343.3
xref: MSH:D002547
xref: UMLS_CUI:C0154698
is_a: DOID:0050669 ! spastic cerebral palsy

[Term]
id: DOID:10969
name: hemiplegia
synonym: "Infantile hemiplegia" EXACT [ICD9CM_2006:343.4]
synonym: "Infantile hemiplegia" EXACT [SNOMEDCT_2005_07_31:155024003]
synonym: "Infantile hemiplegia" EXACT [SNOMEDCT_2005_07_31:155025002]
synonym: "Infantile hemiplegia" EXACT [SNOMEDCT_2005_07_31:267696006]
synonym: "Infantile hemiplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:1593000]
synonym: "Infantile hemiplegia [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:192952005]
synonym: "Infantile hemiplegia NOS" EXACT [SNOMEDCT_2005_07_31:155026001]
synonym: "Infantile hemiplegia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192955007]
synonym: "Postnatal infantile hemiplegia NOS" EXACT [MTHICD9_2006:343.4]
xref: ICD9CM:343.4
xref: MSH:D006429
xref: SNOMEDCT_2010_1_31:155024003
xref: SNOMEDCT_2010_1_31:155025002
xref: SNOMEDCT_2010_1_31:155026001
xref: SNOMEDCT_2010_1_31:1593000
xref: SNOMEDCT_2010_1_31:192952005
xref: SNOMEDCT_2010_1_31:192955007
xref: SNOMEDCT_2010_1_31:267696006
xref: UMLS_CUI:C0392550
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:1097
name: hydrops fetalis
def: "Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis." [stedman:rlc, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis]
xref: MSH:D015160
xref: NCI:C84767
xref: OMIM:MTHU005373
xref: OMIM:MTHU009460
xref: SNOMEDCT_2010_1_31:157134005
xref: SNOMEDCT_2010_1_31:268879006
xref: SNOMEDCT_2010_1_31:276508000
xref: SNOMEDCT_2010_1_31:59928009
xref: UMLS_CUI:C0020305
is_obsolete: true

[Term]
id: DOID:10970
name: spastic quadriplegia
def: "A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking." [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic]
comment: Xref MGI.
synonym: "quadriplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.2]
synonym: "spastic quadriplegic cerebral palsy" EXACT []
synonym: "tetraplegic infantile cerebral palsy" EXACT [MTHICD9_2006:343.2]
xref: ICD10CM:Q80.0
xref: ICD9CM:343.2
xref: MSH:D002547
xref: OMIM:603513
xref: OMIM:612900
xref: ORDO:210141
xref: SNOMEDCT_2010_1_31:192953000
xref: SNOMEDCT_2010_1_31:275468009
xref: UMLS_CUI:C0154697
is_a: DOID:0050669 ! spastic cerebral palsy

[Term]
id: DOID:10971
name: acute salpingo-oophoritis
synonym: "acute salpingitis &/or oophoritis" EXACT [SNOMEDCT_2005_07_31:198132003]
synonym: "acute salpingitis and oophoritis" EXACT [ICD9CM_2006:614.0]
synonym: "acute salpingitis and oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198139007]
synonym: "acute salpingo-oophoritis (disorder)" EXACT [SNOMEDCT_2005_07_31:266581008]
xref: ICD9CM:614.0
xref: SNOMEDCT_2010_1_31:155969007
xref: SNOMEDCT_2010_1_31:198132003
xref: SNOMEDCT_2010_1_31:198134002
xref: SNOMEDCT_2010_1_31:198139007
xref: SNOMEDCT_2010_1_31:266581008
xref: UMLS_CUI:C0156327
is_a: DOID:10972 ! salpingo-oophoritis
is_a: DOID:10973 ! acute salpingitis

[Term]
id: DOID:10972
name: salpingo-oophoritis
synonym: "Salpingitis and oophoritis not specified as acute, subacute, or chronic" EXACT [ICD9CM_2006:614.2]
synonym: "Salpingitis and oophoritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198147007]
synonym: "Salpingitis/oophoritis NOS" EXACT [SNOMEDCT_2005_07_31:155971007]
synonym: "Salpingitis/oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266650009]
synonym: "Salpingo-oophoritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198150005]
synonym: "Tubo-ovarian inflammatory disease" EXACT [MTHICD9_2006:614.2]
synonym: "Tubo-ovarian inflammatory disease (disorder)" EXACT [SNOMEDCT_2005_07_31:46536000]
synonym: "Unspecified salpingitis and oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198153007]
xref: ICD9CM:614.2
xref: SNOMEDCT_2010_1_31:155971007
xref: SNOMEDCT_2010_1_31:198147007
xref: SNOMEDCT_2010_1_31:198150005
xref: SNOMEDCT_2010_1_31:198153007
xref: SNOMEDCT_2010_1_31:266650009
xref: SNOMEDCT_2010_1_31:46536000
xref: UMLS_CUI:C0036133
is_a: DOID:10974 ! oophoritis
is_a: DOID:5733 ! salpingitis

[Term]
id: DOID:10973
name: acute salpingitis
synonym: "acute Salpingitis" EXACT [NCI2004_11_17:C40120]
synonym: "acute salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:8912009]
xref: NCI:C40120
xref: SNOMEDCT_2010_1_31:8912009
xref: UMLS_CUI:C0269038
is_a: DOID:5733 ! salpingitis

[Term]
id: DOID:10974
name: oophoritis
synonym: "Oophoritis (disorder)" EXACT [SNOMEDCT_2005_07_31:76047005]
synonym: "Oophoritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198148002]
xref: MSH:D009869
xref: SNOMEDCT_2010_1_31:155968004
xref: SNOMEDCT_2010_1_31:198148002
xref: SNOMEDCT_2010_1_31:266648001
xref: SNOMEDCT_2010_1_31:76047005
xref: UMLS_CUI:C0029051
is_a: DOID:1100 ! ovarian disease

[Term]
id: DOID:10976
name: membranous glomerulonephritis
synonym: "Membranous Glomerulonephritis" EXACT [NCI2004_11_17:C34645]
synonym: "Membranous glomerulonephritis" EXACT [SNOMEDCT_2005_07_31:197710000]
synonym: "Membranous glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:77182004]
synonym: "membranous nephropathy" EXACT [CSP2005:4006-0062]
synonym: "Membranous nephropathy NOS" EXACT [MTHICD9_2006:583.1]
xref: EFO:0004254
xref: MSH:D015433
xref: NCI:C34645
xref: SNOMEDCT_2010_1_31:197710000
xref: SNOMEDCT_2010_1_31:77182004
xref: UMLS_CUI:C0017665
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:10978
name: poliovirus type III nonparalytic poliomyelitis
def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf]
synonym: "acute nonparalytic poliomyelitis poliovirus type III" EXACT []
xref: ICD9CM:045.23
xref: UMLS_CUI:C1112687
is_obsolete: true

[Term]
id: DOID:10979
name: poliovirus type I nonparalytic poliomyelitis
def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf]
synonym: "acute nonparalytic poliomyelitis poliovirus type I" EXACT []
xref: ICD9CM:045.21
xref: UMLS_CUI:C1112685
is_obsolete: true

[Term]
id: DOID:1098
name: fetal erythroblastosis
synonym: "(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)" EXACT [SNOMEDCT_2005_07_31:206430005]
synonym: "EF - Erythroblastosis foetalis" EXACT [SNOMEDCT_2005_07_31:387705004]
synonym: "erythroblastosis fetalis" EXACT [CSP2005:0441-2309]
xref: ICD9CM:773
xref: ICD9CM:773.2
xref: MSH:D004899
xref: NCI:C87115
xref: SNOMEDCT_2010_1_31:111468003
xref: SNOMEDCT_2010_1_31:123307003
xref: SNOMEDCT_2010_1_31:157130001
xref: SNOMEDCT_2010_1_31:206429000
xref: SNOMEDCT_2010_1_31:206430005
xref: SNOMEDCT_2010_1_31:206431009
xref: SNOMEDCT_2010_1_31:206436004
xref: SNOMEDCT_2010_1_31:268878003
xref: SNOMEDCT_2010_1_31:276577009
xref: SNOMEDCT_2010_1_31:33130007
xref: SNOMEDCT_2010_1_31:387705004
xref: UMLS_CUI:C0014761
is_a: DOID:11252 ! microcytic anemia

[Term]
id: DOID:10980
name: poliovirus type II nonparalytic poliomyelitis
def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf]
synonym: "acute nonparalytic poliomyelitis poliovirus type II" EXACT []
xref: ICD9CM:045.22
xref: UMLS_CUI:C1112686
is_obsolete: true

[Term]
id: DOID:10983
name: Alport syndrome
def: "A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss." [url:http\://en.wikipedia.org/wiki/Alport_syndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Hereditary Nephritis" EXACT [NCI2004_11_17:C34842]
xref: MSH:D009394
xref: OMIM:104200
xref: OMIM:203780
xref: OMIM:301050
xref: SNOMEDCT_2010_1_31:399340005
xref: SNOMEDCT_2010_1_31:57333009
xref: UMLS_CUI:C0027706
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:10986
name: discitis
synonym: "discitis (disorder)" EXACT [SNOMEDCT_2005_07_31:2304001]
xref: MSH:D015299
xref: SNOMEDCT_2010_1_31:2304001
xref: UMLS_CUI:C0012624
is_a: DOID:1222 ! cartilage disease

[Term]
id: DOID:10989
name: conjunctival vascular disease
synonym: "Conjunctival vascular abnormality NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193900004]
synonym: "vascular abnormalities of conjunctiva" EXACT [ICD9CM_2006:372.74]
synonym: "vascular abnormality of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:74100001]
xref: ICD9CM:372.74
xref: NCI:C35116
xref: SNOMEDCT_2010_1_31:193900004
xref: SNOMEDCT_2010_1_31:74100001
xref: UMLS_CUI:C0042370
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:1099
name: alpha thalassemia
def: "Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes." [url:http\://en.wikipedia.org/wiki/Alpha_Thalassemia]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Alpha thalassaemia" EXACT [SNOMEDCT_2005_07_31:191186002]
synonym: "alpha-Thalassemia" EXACT []
synonym: "Hemoglobin H disease" EXACT [NCI2004_11_17:C34368]
xref: MSH:D017085
xref: NCI:C34368
xref: OMIM:141750
xref: OMIM:141800
xref: OMIM:301040
xref: OMIM:604131
xref: OMIM:613978
xref: SNOMEDCT_2010_1_31:191186002
xref: SNOMEDCT_2010_1_31:48553001
xref: SNOMEDCT_2010_1_31:68913001
xref: UMLS_CUI:C0002312
is_a: DOID:10241 ! thalassemia

[Term]
id: DOID:10991
name: basal ganglia cerebrovascular disease
xref: MSH:D020144
xref: UMLS_CUI:C0751739
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:10992
name: acute hemorrhagic leukoencephalitis
def: "A very rare form of acute disseminated encephalomyelitis, characterized_by a brief but intense attack of inflammation and characterized_by necrotizing vasculitis of venules and hemorrhage, and edema." [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis, url:http\://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [SNOMEDCT_2005_07_31:72986009]
synonym: "acute hemorrhagic encephalomyelitis" EXACT []
synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT []
synonym: "AHL " EXACT [OMIM:606752]
synonym: "Weston-Hurst syndrome" EXACT []
xref: ICD10CM:G36.1
xref: ICD9CM:323.9
xref: MSH:D004684
xref: NCI:C84535
xref: OMIM:606752
xref: SNOMEDCT_2010_1_31:72986009
xref: UMLS_CUI:C0014077
is_a: DOID:639 ! acute disseminated encephalomyelitis

[Term]
id: DOID:10993
name: postinfectious encephalitis
synonym: "Post-infectious encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192727001]
synonym: "Post-infectious encephalitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192729003]
synonym: "Postinfective encephalitis" EXACT [SNOMEDCT_2005_07_31:154989001]
synonym: "Postinfective encephalitis" EXACT [SNOMEDCT_2005_07_31:267683005]
xref: SNOMEDCT_2010_1_31:154989001
xref: SNOMEDCT_2010_1_31:192727001
xref: SNOMEDCT_2010_1_31:192729003
xref: SNOMEDCT_2010_1_31:267683005
xref: UMLS_CUI:C0393459
is_obsolete: true

[Term]
id: DOID:10997
name: immature cataract
synonym: "Immature cataract NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193585003]
synonym: "Incipient cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:52421005]
synonym: "Incipient cataract NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193584004]
synonym: "Incipient senile cataract" EXACT [ICD9CM_2006:366.12]
synonym: "Water clefts" EXACT [MTHICD9_2006:366.12]
xref: ICD9CM:366.12
xref: SNOMEDCT_2010_1_31:193584004
xref: SNOMEDCT_2010_1_31:193585003
xref: SNOMEDCT_2010_1_31:52421005
xref: UMLS_CUI:C0271163
is_a: DOID:9669 ! senile cataract

[Term]
id: DOID:10998
name: chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis
xref: ICD9CM:582.2
xref: UMLS_CUI:C0008685
is_obsolete: true

[Term]
id: DOID:110
name: lens disease
synonym: "disorder of lens" EXACT [SNOMEDCT_2005_07_31:194613002]
synonym: "disorder of lens (disorder)" EXACT [SNOMEDCT_2005_07_31:10810001]
synonym: "lens disorder" EXACT [CSP2005:1114-9053]
synonym: "Lens disorder" EXACT [NCI2004_11_17:C26812]
synonym: "Lens disorder" EXACT [SNOMEDCT_2005_07_31:194158009]
xref: MSH:D007905
xref: NCI:C26812
xref: SNOMEDCT_2010_1_31:10810001
xref: SNOMEDCT_2010_1_31:194158009
xref: SNOMEDCT_2010_1_31:194613002
xref: UMLS_CUI:C0023308
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:1100
name: ovarian disease
synonym: "disorder of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:5552004]
synonym: "Ovarian disorder" EXACT [NCI2004_11_17:C26841]
synonym: "ovary disorder" EXACT [CSP2005:2587-6126]
xref: MSH:D010049
xref: NCI:C26841
xref: SNOMEDCT_2010_1_31:5552004
xref: UMLS_CUI:C0029928
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:11000
name: progressive iris atrophy
synonym: "Essential iris atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:25913001]
synonym: "Essential or progressive iris atrophy" EXACT [ICD9CM_2006:364.51]
xref: ICD9CM:364.51
xref: SNOMEDCT_2010_1_31:25913001
xref: UMLS_CUI:C0271111
is_obsolete: true

[Term]
id: DOID:11001
name: Iris and ciliary body degeneration
xref: ICD9CM:364.5
xref: SNOMEDCT_2010_1_31:193504001
xref: SNOMEDCT_2010_1_31:193509006
xref: SNOMEDCT_2010_1_31:5962000
xref: UMLS_CUI:C0154917
is_obsolete: true

[Term]
id: DOID:11002
name: Iridoschisis
synonym: "Iridoschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:5743005]
xref: ICD9CM:364.52
xref: SNOMEDCT_2010_1_31:5743005
xref: UMLS_CUI:C0154919
is_obsolete: true

[Term]
id: DOID:11003
name: pupillary margin miotic cyst
synonym: "Miotic cyst of pupillary margin (disorder)" EXACT [SNOMEDCT_2005_07_31:22681004]
synonym: "Miotic cysts of pupillary margin" EXACT [ICD9CM_2006:364.55]
xref: ICD9CM:364.55
xref: SNOMEDCT_2010_1_31:22681004
xref: UMLS_CUI:C0154922
is_obsolete: true

[Term]
id: DOID:11005
name: Atrophy of sphincter of iris
synonym: "degeneration of pupillary margin" EXACT [ICD9CM_2006:364.54]
synonym: "degeneration of pupillary margin (disorder)" EXACT [SNOMEDCT_2005_07_31:25859000]
xref: ICD9CM:364.54
xref: SNOMEDCT_2010_1_31:25859000
xref: UMLS_CUI:C0154921
is_obsolete: true

[Term]
id: DOID:11014
name: anorectal stricture
synonym: "Anorectal stricture (disorder)" EXACT [SNOMEDCT_2005_07_31:68627009]
synonym: "Stenosis of rectum and anus" EXACT [ICD9CM_2006:569.2]
synonym: "Stenosis of rectum and anus" EXACT [SNOMEDCT_2005_07_31:155803007]
synonym: "Stenosis of rectum and anus (disorder)" EXACT [SNOMEDCT_2005_07_31:197216007]
synonym: "Stenosis of rectum and anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197218008]
xref: ICD9CM:569.2
xref: MSH:C537771
xref: SNOMEDCT_2010_1_31:155803007
xref: SNOMEDCT_2010_1_31:197216007
xref: SNOMEDCT_2010_1_31:197218008
xref: SNOMEDCT_2010_1_31:68627009
xref: UMLS_CUI:C0156183
is_a: DOID:3128 ! anus disease

[Term]
id: DOID:11018
name: postsurgical testicular hypofunction
synonym: "Post-surgical testicular hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:190553000]
synonym: "Postablative testicular hypofunction" EXACT [ICD9CM_2006:257.1]
synonym: "Postablative testicular hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:190552005]
synonym: "Postablative testicular hypofunction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190556008]
synonym: "Postsurgical testicular hypofunction (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:60237007]
xref: ICD9CM:257.1
xref: SNOMEDCT_2010_1_31:190552005
xref: SNOMEDCT_2010_1_31:190553000
xref: SNOMEDCT_2010_1_31:190556008
xref: SNOMEDCT_2010_1_31:60237007
xref: UMLS_CUI:C0154216
is_obsolete: true

[Term]
id: DOID:11019
name: testicular dysfunction
xref: ICD9CM:257.8
xref: SNOMEDCT_2010_1_31:190562003
xref: SNOMEDCT_2010_1_31:190564002
xref: SNOMEDCT_2010_1_31:191065000
xref: SNOMEDCT_2010_1_31:267404008
xref: UMLS_CUI:C0029857
is_obsolete: true

[Term]
id: DOID:11020
name: chronic glomerulonephritis with lesion of proliferative glomerulonephritis
synonym: "chronic glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [ICD9CM_2006:582.0]
xref: ICD9CM:582.0
xref: NCI:C35217
xref: UMLS_CUI:C0156231
is_obsolete: true

[Term]
id: DOID:11027
name: chronic glomerulonephritis with lesion of membranous glomerulonephritis
synonym: "chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis" EXACT [NCI2004_11_17:C34475]
xref: ICD9CM:582.1
xref: NCI:C34475
xref: UMLS_CUI:C0008686
is_obsolete: true

[Term]
id: DOID:11028
name: pseudopterygium
xref: ICD9CM:372.52
xref: SNOMEDCT_2010_1_31:66139007
xref: UMLS_CUI:C0155161
is_a: DOID:10124 ! corneal disease
is_a: DOID:10139 ! conjunctival degeneration

[Term]
id: DOID:11029
name: pinguecula
synonym: "Pinguecula (disorder)" EXACT [SNOMEDCT_2005_07_31:87614000]
xref: ICD9CM:372.51
xref: SNOMEDCT_2010_1_31:155169006
xref: SNOMEDCT_2010_1_31:267735001
xref: SNOMEDCT_2010_1_31:87614000
xref: UMLS_CUI:C0152255
is_a: DOID:10139 ! conjunctival degeneration

[Term]
id: DOID:1103
name: malignant esophageal neoplasm by topographic region
xref: NCI:C7513
xref: UMLS_CUI:C1334579
is_obsolete: true

[Term]
id: DOID:11030
name: corneal edema
synonym: "cornea edema" EXACT [CSP2005:1114-8704]
synonym: "CORNEAL EDEMA" EXACT [MTH:NOCODE]
synonym: "Corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:27194006]
synonym: "Corneal edema NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193817005]
synonym: "Corneal edema, unspecified" EXACT [ICD9CM_2006:371.20]
synonym: "Corneal oedema" EXACT [SNOMEDCT_2005_07_31:155158008]
synonym: "Corneal oedema [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193811006]
synonym: "Unspecified corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:193812004]
xref: ICD9CM:371.2
xref: ICD9CM:371.20
xref: MSH:D015715
xref: NCI:C50508
xref: SNOMEDCT_2010_1_31:155158008
xref: SNOMEDCT_2010_1_31:193811006
xref: SNOMEDCT_2010_1_31:193812004
xref: SNOMEDCT_2010_1_31:193817005
xref: SNOMEDCT_2010_1_31:27194006
xref: UMLS_CUI:C0010037
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:11031
name: bullous keratopathy
synonym: "Bullous Keratopathy" EXACT [NCI2004_11_17:C26970]
synonym: "Bullous keratopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:57207003]
xref: ICD9CM:371.23
xref: NCI:C26970
xref: SNOMEDCT_2010_1_31:193815002
xref: SNOMEDCT_2010_1_31:57207003
xref: UMLS_CUI:C0155111
is_a: DOID:11030 ! corneal edema
is_a: DOID:2283 ! keratopathy

[Term]
id: DOID:11032
name: secondary corneal edema
synonym: "secondary corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:27536004]
synonym: "secondary corneal edema [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:193814003]
xref: ICD9CM:371.22
xref: SNOMEDCT_2010_1_31:193814003
xref: SNOMEDCT_2010_1_31:27536004
xref: UMLS_CUI:C0155110
is_a: DOID:11030 ! corneal edema

[Term]
id: DOID:11033
name: idiopathic corneal edema
synonym: "Idiopathic corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:1794009]
synonym: "Idiopathic corneal edema [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:193813009]
xref: ICD9CM:371.21
xref: SNOMEDCT_2010_1_31:1794009
xref: SNOMEDCT_2010_1_31:193813009
xref: UMLS_CUI:C0155109
is_a: DOID:11030 ! corneal edema

[Term]
id: DOID:11034
name: contact lens corneal edema
synonym: "Corneal edema due to wearing of contact lenses" EXACT [ICD9CM_2006:371.24]
xref: ICD9CM:371.24
xref: SNOMEDCT_2010_1_31:193816001
xref: SNOMEDCT_2010_1_31:49362009
xref: UMLS_CUI:C0474442
is_a: DOID:11030 ! corneal edema

[Term]
id: DOID:11036
name: chronic rapidly progressive glomerulonephritis
synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [ICD9CM_2006:582.4]
synonym: "chronic rapidly progressive glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:197614002]
xref: ICD9CM:582.4
xref: SNOMEDCT_2010_1_31:197614002
xref: UMLS_CUI:C0341694
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:11037
name: dissociative amnesia
def: "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress." [url:http\://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html]
synonym: "psychogenic amnesia" EXACT [CSP2005:2483-7018]
xref: ICD9CM:300.12
xref: MSH:D000647
xref: SNOMEDCT_2010_1_31:191716000
xref: SNOMEDCT_2010_1_31:192420000
xref: SNOMEDCT_2010_1_31:84209002
xref: UMLS_CUI:C0236795
is_a: DOID:10935 ! dissociative disorder

[Term]
id: DOID:11038
name: depersonalization disorder
def: "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization." [url:http\://en.wikipedia.org/wiki/Depersonalization_disorder]
synonym: "Neurotic derealization" EXACT [MTHICD9_2006:300.6]
xref: ICD9CM:300.6
xref: MSH:D003861
xref: SNOMEDCT_2010_1_31:70764005
xref: UMLS_CUI:C0683416
is_a: DOID:10935 ! dissociative disorder

[Term]
id: DOID:11042
name: Felty's syndrome
def: "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." [url:http\://emedicine.medscape.com/article/329734-overview, url:http\://en.wikipedia.org/wiki/Felty%27s_syndrome, url:http\://www.medicinenet.com/feltys_syndrome/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000445.htm]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Felty syndrome" EXACT []
synonym: "Rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [MTHICD9_2006:714.1]
xref: ICD10CM:M05.0
xref: ICD9CM:714.1
xref: MSH:D005258
xref: NCI:C84712
xref: OMIM:134750
xref: SNOMEDCT_2010_1_31:156482001
xref: SNOMEDCT_2010_1_31:57160007
xref: UMLS_CUI:C0015773
is_a: DOID:225 ! syndrome

[Term]
id: DOID:11044
name: gastroschisis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Gastroschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:72951007]
xref: ICD9CM:756.73
xref: MSH:D020139
xref: NCI:C84725
xref: OMIM:230750
xref: SNOMEDCT_2010_1_31:72951007
xref: UMLS_CUI:C0265706
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:11049
name: meconium aspiration syndrome
synonym: "meconium aspiration" EXACT []
synonym: "Neonatal aspiration of meconium (disorder)" EXACT [SNOMEDCT_2005_07_31:278927005]
xref: MSH:D008471
xref: NCI:C87093
xref: SNOMEDCT_2010_1_31:14608006
xref: SNOMEDCT_2010_1_31:157110000
xref: SNOMEDCT_2010_1_31:206292002
xref: SNOMEDCT_2010_1_31:278927005
xref: SNOMEDCT_2010_1_31:85779008
xref: UMLS_CUI:C0025048
is_a: DOID:850 ! lung disease

[Term]
id: DOID:1105
name: esophageal metastasis
synonym: "metastatic tumor to the esophagus" EXACT [NCI2004_11_17:C7479]
xref: UMLS_CUI:C0743577
is_obsolete: true

[Term]
id: DOID:11054
name: urinary bladder cancer
alt_id: DOID:5428
def: "An urinary system cancer that results_in malignant growth located_in the urinary bladder." [url:http\://en.wikipedia.org/wiki/Bladder_cancer]
comment: OMIM mapping confirmed by DO. [SN].
subset: TopNodes_DOcancerslim
synonym: "bladder cancer" EXACT []
synonym: "tumor of the bladder" EXACT [NCI2004_11_17:C2901]
xref: ICD9CM:188
xref: ICD9CM:188.9
xref: KEGG:05219
xref: MSH:D001749
xref: NCI:C9334
xref: OMIM:109800
xref: SNOMEDCT_2010_1_31:126885006
xref: SNOMEDCT_2010_1_31:154540000
xref: SNOMEDCT_2010_1_31:188248005
xref: SNOMEDCT_2010_1_31:269607003
xref: SNOMEDCT_2010_1_31:363455001
xref: SNOMEDCT_2010_1_31:399326009
xref: SNOMEDCT_2010_1_31:93689003
xref: UMLS_CUI:C0005684
xref: UMLS_CUI:C0005695
is_a: DOID:3996 ! urinary system cancer

[Term]
id: DOID:11055
name: pasteurellosis
def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." [url:http\://emedicine.medscape.com/article/224920-clinical#a0217, url:http\://en.wikipedia.org/wiki/Pasteurellosis]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Pasteurella infection" EXACT [SNOMEDCT_2005_07_31:276199008]
synonym: "Pasteurella infectious disease" EXACT []
xref: ICD9CM:027.2
xref: MSH:D010326
xref: SNOMEDCT_2010_1_31:186328008
xref: SNOMEDCT_2010_1_31:266086006
xref: SNOMEDCT_2010_1_31:276199008
xref: SNOMEDCT_2010_1_31:83172007
xref: UMLS_CUI:C0030636
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11056
name: Pasteurella hemorrhagic septicemia
subset: GOLD
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "hemorrhagic septicemia" EXACT []
xref: MSH:D006483
xref: UMLS_CUI:C0086973
is_obsolete: true

[Term]
id: DOID:1106
name: esophagus lymphoma
synonym: "Lymphoma of esophagus" EXACT [NCI2004_11_17:C5687]
xref: NCI:C5687
xref: UMLS_CUI:C1333459
is_a: DOID:5041 ! esophageal cancer

[Term]
id: DOID:11060
name: placenta praevia
def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." [url:http\://en.wikipedia.org/wiki/Placenta_previa]
xref: MSH:D010923
xref: NCI:C26858
xref: SNOMEDCT_2010_1_31:157059004
xref: SNOMEDCT_2010_1_31:198930005
xref: SNOMEDCT_2010_1_31:36813001
xref: UMLS_CUI:C0032046
is_a: DOID:780 ! placenta disease

[Term]
id: DOID:1107
name: esophageal carcinoma
def: "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Esophageal_cancer]
subset: DO_cancer_slim
synonym: "cancer of esophagus" EXACT [NCI2004_11_17:C3513]
synonym: "cancer of oesophagus" EXACT [SNOMEDCT_2005_07_31:93785002]
synonym: "carcinoma OF ESOPHAGUS" EXACT [MTH:NOCODE]
synonym: "carcinoma of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:255079005]
synonym: "carcinoma of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:372138000]
synonym: "carcinoma of oesophagus" EXACT [SNOMEDCT_2005_07_31:154441003]
xref: EFO:0002916
xref: NCI:C3513
xref: SNOMEDCT_2010_1_31:154441003
xref: SNOMEDCT_2010_1_31:255079005
xref: SNOMEDCT_2010_1_31:372138000
xref: SNOMEDCT_2010_1_31:93785002
xref: UMLS_CUI:C0152018
is_a: DOID:5041 ! esophageal cancer

[Term]
id: DOID:11074
name: cyst of thyroid
synonym: "Cyst of the Thyroid gland" EXACT [NCI2004_11_17:C3667]
synonym: "Cyst of thyroid" EXACT [ICD9CM_2006:246.2]
synonym: "Cyst of thyroid (disorder)" EXACT [SNOMEDCT_2005_07_31:72325004]
synonym: "Thyroid cyst" EXACT [SNOMEDCT_2005_07_31:154669004]
xref: ICD9CM:246.2
xref: NCI:C3667
xref: SNOMEDCT_2010_1_31:154669004
xref: SNOMEDCT_2010_1_31:72325004
xref: UMLS_CUI:C0162299
is_obsolete: true

[Term]
id: DOID:11076
name: Brucella suis brucellosis
def: "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
xref: UMLS_CUI:C0006306
is_a: DOID:11077 ! brucellosis

[Term]
id: DOID:11077
name: brucellosis
alt_id: DOID:0050060
def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Bang's disease" RELATED []
synonym: "Gibraltar fever" RELATED []
synonym: "Malta fever" RELATED []
synonym: "Maltese fever" EXACT []
synonym: "Mediterranean fever" RELATED []
synonym: "undulant fever" EXACT []
xref: ICD9CM:023
xref: ICD9CM:023.9
xref: MSH:C531637
xref: MSH:D002006
xref: NCI:C84602
xref: SNOMEDCT_2010_1_31:111804008
xref: SNOMEDCT_2010_1_31:154296006
xref: SNOMEDCT_2010_1_31:186310006
xref: SNOMEDCT_2010_1_31:187304000
xref: SNOMEDCT_2010_1_31:75702008
xref: UMLS_CUI:C0006309
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11079
name: leech infestation
def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream." [url:http\://en.wikipedia.org/wiki/Leech, url:http\://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057]
synonym: "Hirudiniasis" EXACT [ICD9CM_2006:134.2]
synonym: "Leech infestation (disorder)" EXACT [SNOMEDCT_2005_07_31:64351000]
synonym: "Leeches" EXACT [MTHICD9_2006:134.2]
xref: ICD9CM:134.2
xref: SNOMEDCT_2010_1_31:154423006
xref: SNOMEDCT_2010_1_31:266225001
xref: SNOMEDCT_2010_1_31:64351000
xref: UMLS_CUI:C0019575
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:1108
name: esophagus melanoma
synonym: "melanoma of esophagus" EXACT [NCI2004_11_17:C5707]
xref: NCI:C5707
xref: UMLS_CUI:C1333460
is_a: DOID:5041 ! esophageal cancer

[Term]
id: DOID:11080
name: myiasis
def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm]
synonym: "Infestation by fly larvae (disorder)" EXACT [SNOMEDCT_2005_07_31:60412004]
synonym: "Infestation by maggots" EXACT [MTHICD9_2006:134.0]
synonym: "Maggot infestation" EXACT [SNOMEDCT_2005_07_31:266225001]
synonym: "Myiasis, unspecified" EXACT [SNOMEDCT_2005_07_31:187224004]
synonym: "Myiasis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187547004]
xref: ICD9CM:134.0
xref: MSH:D009198
xref: SNOMEDCT_2010_1_31:154423006
xref: SNOMEDCT_2010_1_31:187224004
xref: SNOMEDCT_2010_1_31:187547004
xref: SNOMEDCT_2010_1_31:266225001
xref: SNOMEDCT_2010_1_31:60412004
xref: UMLS_CUI:C0027030
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:11086
name: chorioretinal scar
xref: ICD9CM:363.3
xref: ICD9CM:363.30
xref: SNOMEDCT_2010_1_31:193455005
xref: SNOMEDCT_2010_1_31:193460009
xref: SNOMEDCT_2010_1_31:53854005
xref: UMLS_CUI:C0008512
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:11088
name: asphyxia neonatorum
synonym: "Asphyxia - birth" EXACT [SNOMEDCT_2005_07_31:157098009]
synonym: "Asphyxia - birth" EXACT [SNOMEDCT_2005_07_31:268873007]
synonym: "Asphyxia NOS in liveborn infant" EXACT [MTHICD9_2006:768.9]
synonym: "Asphyxia, in liveborn infant (disorder)" EXACT [SNOMEDCT_2005_07_31:28314004]
synonym: "Birth asphyxia (disorder)" EXACT [SNOMEDCT_2005_07_31:413654009]
synonym: "Liveborn with birth asphyxia NOS" EXACT [SNOMEDCT_2005_07_31:206278008]
synonym: "Liveborn with birth asphyxia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268831004]
synonym: "postnatal asphyxia" EXACT [CSP2005:0726-3340]
synonym: "Unspecified severity of birth asphyxia in liveborn infant" EXACT [ICD9CM_2006:768.9]
xref: ICD9CM:768.9
xref: MSH:D001238
xref: SNOMEDCT_2010_1_31:157098009
xref: SNOMEDCT_2010_1_31:206278008
xref: SNOMEDCT_2010_1_31:268831004
xref: SNOMEDCT_2010_1_31:268873007
xref: SNOMEDCT_2010_1_31:28314004
xref: SNOMEDCT_2010_1_31:413654009
xref: UMLS_CUI:C0004045
is_a: DOID:1579 ! respiratory system disease

[Term]
id: DOID:1109
name: extracutaneous melanoma
xref: NCI:C8711
xref: UMLS_CUI:C1334974
is_obsolete: true

[Term]
id: DOID:11091
name: perinatal respiratory disorder
synonym: "Perinatal respiratory problems NOS" EXACT [SNOMEDCT_2005_07_31:157108002]
synonym: "Perinatal respiratory problems NOS" EXACT [SNOMEDCT_2005_07_31:157115005]
synonym: "Perinatal respiratory problems NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206327004]
synonym: "respiratory condition of fetus OR newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:17849001]
synonym: "Unspecified respiratory condition of fetus and newborn" EXACT [ICD9CM_2006:770.9]
xref: ICD9CM:770.9
xref: SNOMEDCT_2010_1_31:157108002
xref: SNOMEDCT_2010_1_31:157115005
xref: SNOMEDCT_2010_1_31:17849001
xref: SNOMEDCT_2010_1_31:206327004
xref: UMLS_CUI:C0270146
is_obsolete: true

[Term]
id: DOID:11092
name: Salmonella gastroenteritis
def: "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/12631900]
subset: GOLD
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Enteric paratyphosis" EXACT [SNOMEDCT_2005_07_31:170879007]
synonym: "Salmonella food poisoning" EXACT []
synonym: "Salmonella food poisoning (disorder)" EXACT [SNOMEDCT_2005_07_31:302229004]
synonym: "Salmonella gastroenteritis" EXACT [ICD9CM_2006:003.0]
synonym: "Salmonella gastroenteritis" EXACT [SNOMEDCT_2005_07_31:154271008]
synonym: "Salmonella gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:42338000]
synonym: "Salmonella gastroenteritis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:266072007]
synonym: "Salmonellosis" EXACT [MTHICD9_2006:003.0]
synonym: "Salmonellosis (& [gastroenteritis] or [food poisoning])" EXACT [SNOMEDCT_2005_07_31:186094005]
xref: ICD9CM:003.0
xref: MSH:D012478
xref: SNOMEDCT_2010_1_31:15025004
xref: SNOMEDCT_2010_1_31:154271008
xref: SNOMEDCT_2010_1_31:170879007
xref: SNOMEDCT_2010_1_31:186094005
xref: SNOMEDCT_2010_1_31:266072007
xref: SNOMEDCT_2010_1_31:302229004
xref: SNOMEDCT_2010_1_31:397503006
xref: SNOMEDCT_2010_1_31:42338000
xref: UMLS_CUI:C0036114
is_obsolete: true

[Term]
id: DOID:11093
name: bacterial gastroenteritis
alt_id: DOID:0050128
def: "A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000254.htm]
synonym: "bacterial diarrhea" EXACT []
synonym: "Bacterial gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:274080003]
synonym: "Gastroenteritis - bact." EXACT [SNOMEDCT_2005_07_31:154268000]
synonym: "Gastroenteritis - bact." EXACT [SNOMEDCT_2005_07_31:266173000]
xref: NCI:C35483
xref: SNOMEDCT_2010_1_31:154268000
xref: SNOMEDCT_2010_1_31:266173000
xref: SNOMEDCT_2010_1_31:274080003
xref: UMLS_CUI:C0558348
is_obsolete: true

[Term]
id: DOID:11096
name: renal syphilis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilis of kidney" EXACT [ICD9CM_2006:095.4]
synonym: "Syphilis of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:59530001]
xref: ICD9CM:095.4
xref: SNOMEDCT_2010_1_31:59530001
xref: UMLS_CUI:C0153180
is_obsolete: true

[Term]
id: DOID:11097
name: pulmonary syphilis
def: "A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever." [url:http\://sti.bmj.com/cgi/reprint/4/4/290.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf]
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilis of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:8555001]
xref: ICD9CM:095.1
xref: SNOMEDCT_2010_1_31:196139002
xref: SNOMEDCT_2010_1_31:8555001
xref: UMLS_CUI:C0153177
is_obsolete: true

[Term]
id: DOID:11099
name: primary Rickettsiaceae infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D012288
xref: UMLS_CUI:C0035592
is_obsolete: true

[Term]
id: DOID:1110
name: gastrointestinal melanoma
xref: NCI:C7091
xref: UMLS_CUI:C1333798
is_obsolete: true

[Term]
id: DOID:11100
name: Q fever
def: "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia." [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.cdc.gov/qfever/symptoms/index.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15021054]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Infection due to Coxiella burnetii (disorder)" EXACT [SNOMEDCT_2005_07_31:260588007]
xref: ICD9CM:083.0
xref: MSH:D011778
xref: NCI:C34970
xref: SNOMEDCT_2010_1_31:154375001
xref: SNOMEDCT_2010_1_31:186788009
xref: SNOMEDCT_2010_1_31:260588007
xref: SNOMEDCT_2010_1_31:266205000
xref: SNOMEDCT_2010_1_31:68981009
xref: SNOMEDCT_2010_1_31:86012006
xref: UMLS_CUI:C0034362
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11101
name: trench fever
def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." [url:http\://emedicine.medscape.com/article/230294-clinical, url:http\://en.wikipedia.org/wiki/Trench_fever]
subset: gram-negative_bacterial_infectious_disease
synonym: "His-Werner disease" EXACT []
synonym: "Quintan fever" EXACT []
synonym: "shin bone fever" EXACT []
synonym: "tibialgic fever" EXACT []
synonym: "Trench fever" EXACT [ICD9CM_2006:083.1]
synonym: "Trench fever (disorder)" EXACT [SNOMEDCT_2005_07_31:82214002]
synonym: "Wolhynian fever" EXACT [MTHICD9_2006:083.1]
xref: ICD9CM:083.1
xref: MSH:D014205
xref: SNOMEDCT_2010_1_31:82214002
xref: UMLS_CUI:C0040830
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11102
name: Bartonella infectious disease
subset: gram-negative_bacterial_infectious_disease
synonym: "bartonelliasis" EXACT [CSP2005:2623-6984]
synonym: "Bartonellosis" EXACT [ICD9CM_2006:088.0]
synonym: "Bartonellosis (disorder)" EXACT [SNOMEDCT_2005_07_31:266123003]
synonym: "Bartonellosis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:17116008]
synonym: "Bartonellosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187340003]
synonym: "Carrion's disease" EXACT [MTHICD9_2006:088.0]
synonym: "Carrion's disease" EXACT [SNOMEDCT_2005_07_31:186824002]
synonym: "Carrion's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:240454008]
synonym: "Rochalimaea infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240623002]
xref: ICD9CM:088.0
xref: MSH:D001474
xref: NCI:C84586
xref: SNOMEDCT_2010_1_31:17116008
xref: SNOMEDCT_2010_1_31:186824002
xref: SNOMEDCT_2010_1_31:187340003
xref: SNOMEDCT_2010_1_31:240454008
xref: SNOMEDCT_2010_1_31:240623002
xref: SNOMEDCT_2010_1_31:266123003
xref: UMLS_CUI:C0004771
is_obsolete: true

[Term]
id: DOID:11103
name: rickettsialpox
alt_id: DOID:0050037
def: "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash." [url:http\://emedicine.medscape.com/article/227956-overview#a0104, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Rickettsia akari spotted fever" EXACT []
synonym: "Vesicular rickettsiosis" EXACT [MTHICD9_2006:083.2]
xref: ICD9CM:083.2
xref: MSH:D012288
xref: SNOMEDCT_2010_1_31:75096007
xref: UMLS_CUI:C0035597
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:11104
name: spotted fever
def: "A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite." [url:http\://emedicine.medscape.com/article/785659-overview#a0104, url:http\://www.cdc.gov/otherspottedfever/index.html]
subset: gram-negative_bacterial_infectious_disease
synonym: "Spotted fever group rickettsial disease (disorder)" EXACT [SNOMEDCT_2005_07_31:186771002]
xref: ICD9CM:082.0
xref: SNOMEDCT_2010_1_31:186771002
xref: SNOMEDCT_2010_1_31:186773004
xref: SNOMEDCT_2010_1_31:187385002
xref: UMLS_CUI:C0038041
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11105
name: fundus albipunctatus
def: "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement." [url:http\://www.omim.org/entry/136880]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Pigmentary retinal dystrophy" EXACT [ICD9CM_2006:362.74]
synonym: "retinitis punctata albescens " EXACT []
xref: ICD9CM:362.74
xref: OMIM:136880
xref: SNOMEDCT_2010_1_31:68222009
xref: UMLS_CUI:C0311338
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:11106
name: glaucoma associated with anterior segment anomaly
synonym: "Glaucoma associated with anterior segment anomaly (disorder)" EXACT [SNOMEDCT_2005_07_31:45623002]
synonym: "Glaucoma associated with other anterior segment anomalies" EXACT [ICD9CM_2006:365.43]
xref: ICD9CM:365.43
xref: SNOMEDCT_2010_1_31:45623002
xref: UMLS_CUI:C0154955
is_obsolete: true

[Term]
id: DOID:11107
name: glaucoma associated with ocular disorder
xref: ICD9CM:365.60
xref: SNOMEDCT_2010_1_31:66747002
xref: UMLS_CUI:C0154961
is_obsolete: true

[Term]
id: DOID:1111
name: malignant neoplasm of cervical part of esophagus
synonym: "malignant neoplasm of cervical esophagus" EXACT [ICD9CM_2006:150.0]
synonym: "malignant neoplasm of cervical oesophagus" EXACT [SNOMEDCT_2005_07_31:93750002]
synonym: "malignant neoplasm of the cervical esophagus" EXACT [NCI2004_11_17:C4763]
synonym: "malignant tumor of cervical part of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:187722004]
xref: ICD9CM:150.0
xref: NCI:C4763
xref: SNOMEDCT_2010_1_31:187722004
xref: SNOMEDCT_2010_1_31:93750002
xref: UMLS_CUI:C0496773
is_obsolete: true

[Term]
id: DOID:11110
name: psychosexual dysfunction with female orgasmic disease
xref: ICD9CM:302.73
xref: UMLS_CUI:C1456318
is_obsolete: true

[Term]
id: DOID:11111
name: hydronephrosis
xref: ICD9CM:591
xref: MSH:D006869
xref: NCI:C26796
xref: SNOMEDCT_2010_1_31:155866001
xref: SNOMEDCT_2010_1_31:197791000
xref: SNOMEDCT_2010_1_31:43064006
xref: UMLS_CUI:C0020295
is_a: DOID:5200 ! urinary tract obstruction

[Term]
id: DOID:11118
name: syphilitic retrobulbar neuritis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic retrobulbar neuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:36276008]
xref: ICD9CM:094.85
xref: SNOMEDCT_2010_1_31:186891001
xref: SNOMEDCT_2010_1_31:36276008
xref: UMLS_CUI:C0153172
is_obsolete: true

[Term]
id: DOID:11119
name: Gilles de la Tourette syndrome
def: "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year." [url:http\://emedicine.medscape.com/article/1182258-overview, url:http\://en.wikipedia.org/wiki/Tic_disorder, url:http\://en.wikipedia.org/wiki/Tourette%27s_disorder]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Guinon's disease" EXACT [CSP2005:2042-5068]
synonym: "motor-verbal tic disorder" EXACT [MTHICD9_2006:307.23]
synonym: "Psychogenic tics" EXACT [SNOMEDCT_2005_07_31:268778009]
synonym: "Tourette syndrome" EXACT []
xref: EFO:0004895
xref: ICD9CM:307.23
xref: MSH:D005879
xref: NCI:C35078
xref: OMIM:137580
xref: SNOMEDCT_2010_1_31:154936002
xref: SNOMEDCT_2010_1_31:192624004
xref: SNOMEDCT_2010_1_31:268778009
xref: SNOMEDCT_2010_1_31:39098006
xref: SNOMEDCT_2010_1_31:5158005
xref: UMLS_CUI:C0040517
is_a: DOID:2769 ! tic disorder

[Term]
id: DOID:1112
name: neck cancer
synonym: "cancer of neck" RELATED []
synonym: "malignant neoplasm of neck" EXACT [SNOMEDCT_2005_07_31:93922007]
synonym: "malignant neoplasm of neck NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188358006]
synonym: "malignant tumor of neck (disorder)" EXACT [SNOMEDCT_2005_07_31:363489000]
synonym: "malignant tumor of the neck" EXACT [NCI2004_11_17:C4940]
synonym: "neck cancer" EXACT [CSP2005:2005-4325]
xref: MSH:D006258
xref: NCI:C4940
xref: SNOMEDCT_2010_1_31:188358006
xref: SNOMEDCT_2010_1_31:363489000
xref: SNOMEDCT_2010_1_31:93922007
xref: UMLS_CUI:C0746787
is_obsolete: true

[Term]
id: DOID:11120
name: psychologic dyspareunia
synonym: "Dyspareunia, psychogenic" EXACT [ICD9CM_2006:302.76]
synonym: "Non-organic dyspareunia" EXACT [SNOMEDCT_2005_07_31:192470002]
synonym: "Psychologic dyspareunia (disorder)" EXACT [SNOMEDCT_2005_07_31:41021005]
xref: ICD9CM:302.76
xref: SNOMEDCT_2010_1_31:154905005
xref: SNOMEDCT_2010_1_31:192470002
xref: SNOMEDCT_2010_1_31:268762007
xref: SNOMEDCT_2010_1_31:41021005
xref: UMLS_CUI:C0154466
is_a: DOID:10132 ! psychosexual disorder

[Term]
id: DOID:11121
name: pulpitis
synonym: "pulpitis (disorder)" EXACT [SNOMEDCT_2005_07_31:32620007]
synonym: "pulpitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196331007]
xref: ICD9CM:522.0
xref: MSH:D011671
xref: NCI:C52595
xref: SNOMEDCT_2010_1_31:155638006
xref: SNOMEDCT_2010_1_31:196331007
xref: SNOMEDCT_2010_1_31:32620007
xref: UMLS_CUI:C0034103
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:11123
name: Henoch-Schoenlein purpura
synonym: "Allergic purpura" EXACT [ICD9CM_2006:287.0]
synonym: "Allergic purpura" EXACT [SNOMEDCT_2005_07_31:191305009]
synonym: "Allergic purpura (disorder)" EXACT [SNOMEDCT_2005_07_31:21148002]
synonym: "Allergic purpura NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191308006]
synonym: "Autoimmune purpura (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:31912009]
synonym: "Henoch-Sch?nlein purpura" EXACT [SNOMEDCT_2005_07_31:246074004]
synonym: "Henoch-Sch@nlein purpura" EXACT [SNOMEDCT_2005_07_31:367437009]
synonym: "Henoch-Scholein purpura" EXACT [CSP2005:4006-0049]
synonym: "Henoch-Schonlein Purpura" EXACT [NCI2004_11_17:C34963]
synonym: "Henoch-Schonlein purpura (disorder)" EXACT [SNOMEDCT_2005_07_31:191306005]
synonym: "Purpura, autoimmune" EXACT [MTHICD9_2006:287.0]
synonym: "Purpura: [allergic] or [Henoch-Schonlein allergy]" EXACT [SNOMEDCT_2005_07_31:154823001]
synonym: "Purpura: [allergic] or [Henoch-Schonlein allergy]" EXACT [SNOMEDCT_2005_07_31:267565009]
xref: ICD9CM:287.0
xref: MSH:D011695
xref: NCI:C34963
xref: SNOMEDCT_2010_1_31:154823001
xref: SNOMEDCT_2010_1_31:191305009
xref: SNOMEDCT_2010_1_31:191306005
xref: SNOMEDCT_2010_1_31:191308006
xref: SNOMEDCT_2010_1_31:21148002
xref: SNOMEDCT_2010_1_31:246074004
xref: SNOMEDCT_2010_1_31:267565009
xref: SNOMEDCT_2010_1_31:31912009
xref: SNOMEDCT_2010_1_31:367437009
xref: UMLS_CUI:C0034152
is_a: DOID:9809 ! hypersensitivity vasculitis

[Term]
id: DOID:11125
name: qualitative platelet defect
synonym: "Qualitative platelet deficiency NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191311007]
xref: ICD9CM:287.1
xref: SNOMEDCT_2010_1_31:191309003
xref: SNOMEDCT_2010_1_31:191311007
xref: SNOMEDCT_2010_1_31:267532001
xref: UMLS_CUI:C0235604
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:11126
name: acquired thrombocytopenia
synonym: "acquired thrombocytopenia (disorder)" EXACT [SNOMEDCT_2005_07_31:74576004]
synonym: "secondary thrombocytopenia" EXACT [ICD9CM_2006:287.4]
synonym: "secondary thrombocytopenia" EXACT [SNOMEDCT_2005_07_31:154826009]
synonym: "secondary thrombocytopenia NOS" EXACT [SNOMEDCT_2005_07_31:191325008]
synonym: "secondary thrombocytopenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267537007]
xref: ICD9CM:287.4
xref: SNOMEDCT_2010_1_31:154826009
xref: SNOMEDCT_2010_1_31:191325008
xref: SNOMEDCT_2010_1_31:267537007
xref: SNOMEDCT_2010_1_31:74576004
xref: UMLS_CUI:C0154301
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:11129
name: dislocation of ear ossicle
xref: ICD9CM:385.23
xref: UMLS_CUI:C0155487
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:1113
name: malignant esophageal neoplasm by anatomic region
xref: NCI:C7512
xref: UMLS_CUI:C1334578
is_obsolete: true

[Term]
id: DOID:11130
name: secondary hypertension
xref: ICD9CM:405
xref: ICD9CM:405.9
xref: NCI:C3657
xref: SNOMEDCT_2010_1_31:155300002
xref: SNOMEDCT_2010_1_31:194789002
xref: SNOMEDCT_2010_1_31:194792003
xref: SNOMEDCT_2010_1_31:31992008
xref: UMLS_CUI:C0155616
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:11132
name: prostatic hypertrophy
xref: UMLS_CUI:C1260425
is_a: DOID:47 ! prostate disease

[Term]
id: DOID:11133
name: prostatic cyst
synonym: "Cyst of prostate" EXACT [ICD9CM_2006:600.3]
synonym: "Prostatic cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:409658007]
xref: ICD9CM:600.3
xref: SNOMEDCT_2010_1_31:409658007
xref: UMLS_CUI:C1443972
is_a: DOID:11132 ! prostatic hypertrophy

[Term]
id: DOID:11134
name: prolapse of lacrimal gland
synonym: "Dislocation of lacrimal gland" EXACT [ICD9CM_2006:375.16]
synonym: "Dislocation of lacrimal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:84777002]
xref: ICD9CM:375.16
xref: SNOMEDCT_2010_1_31:84777002
xref: UMLS_CUI:C0155231
is_a: DOID:1400 ! lacrimal apparatus disease

[Term]
id: DOID:1114
name: esophagus sarcoma
def: "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus." [url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.google.com/search?hl=en&client=firefox-a&hs=X3f&rls=org.mozilla\:en-US\:official&ei=wxHfS4jAC4a8NualnMwH&sa=X&oi=spell&resnum=0&ct=result&cd=1&ved=0CA0QBSgA&q=esophageal+sarcoma&spell=1]
synonym: "esophageal sarcoma" RELATED []
xref: NCI:C5341
xref: UMLS_CUI:C1333466
is_a: DOID:5041 ! esophageal cancer

[Term]
id: DOID:11144
name: anthrax septicemia
subset: GOLD
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Anthrax septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:14972006]
xref: ICD9CM:022.3
xref: SNOMEDCT_2010_1_31:14972006
xref: UMLS_CUI:C0152946
is_obsolete: true

[Term]
id: DOID:11145
name: Pars plana primary cyst
synonym: "primary cyst of pars plana" EXACT [ICD9CM_2006:364.63]
synonym: "primary cyst of pars plana (disorder)" EXACT [SNOMEDCT_2005_07_31:47269005]
xref: ICD9CM:364.63
xref: SNOMEDCT_2010_1_31:47269005
xref: UMLS_CUI:C0154930
is_obsolete: true

[Term]
id: DOID:11147
name: vascular lesions of cord complicating labor and delivery
alt_id: DOID:11146
alt_id: DOID:14083
synonym: "antepartum vascular lesions of cord complicating labor and delivery" EXACT []
synonym: "vascular lesions of cord complicating labor and delivery, delivered" EXACT []
xref: ICD9CM:663.6
xref: UMLS_CUI:C0157299
is_obsolete: true

[Term]
id: DOID:11148
name: hypersecretion glaucoma
synonym: "hypersecretion glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:29369005]
xref: ICD9CM:365.81
xref: SNOMEDCT_2010_1_31:29369005
xref: UMLS_CUI:C0154968
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:11149
name: aqueous misdirection
xref: ICD9CM:365.83
xref: UMLS_CUI:C1135189
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:1115
name: sarcoma
alt_id: DOID:3936
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm." [url:http\://cancergenome.nih.gov/cancersselected/Sarcoma, url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.cancer.gov/dictionary?CdrID=45562]
subset: DO_cancer_slim
subset: TopNodes_DOcancerslim
synonym: "connective and soft tissue neoplasm" EXACT []
synonym: "tumor of soft tissue and skeleton" EXACT [NCI2004_11_17:C3810]
xref: ICD9CM:171
xref: ICD9CM:171.9
xref: SNOMEDCT_2010_1_31:187985009
xref: SNOMEDCT_2010_1_31:93765001
xref: UMLS_CUI:C0153519
is_a: DOID:0050687 ! cell type cancer

[Term]
id: DOID:11150
name: glaucoma due to raised episcleral venous pressure
synonym: "Glaucoma with increased episcleral venous pressure" EXACT [ICD9CM_2006:365.82]
synonym: "Glaucoma with increased episcleral venous pressure (disorder)" EXACT [SNOMEDCT_2005_07_31:34623005]
xref: ICD9CM:365.82
xref: SNOMEDCT_2010_1_31:34623005
xref: UMLS_CUI:C0339596
is_obsolete: true

[Term]
id: DOID:11151
name: cholecystolithiasis
xref: MSH:D041761
xref: NCI:C34443
xref: SNOMEDCT_2010_1_31:197376000
xref: SNOMEDCT_2010_1_31:235919008
xref: SNOMEDCT_2010_1_31:266541001
xref: SNOMEDCT_2010_1_31:44900007
xref: UMLS_CUI:C0947622
is_a: DOID:0000000 ! gallbladder disease

[Term]
id: DOID:11153
name: miliaria rubra
synonym: "Miliaria crystallina (disorder)" EXACT [SNOMEDCT_2005_07_31:44279002]
synonym: "Miliaria rubra" EXACT [SNOMEDCT_2005_07_31:156415007]
synonym: "Miliaria rubra" EXACT [SNOMEDCT_2005_07_31:201194007]
synonym: "Miliaria rubra" EXACT [SNOMEDCT_2005_07_31:267813002]
synonym: "Prickly heat" EXACT [ICD9CM_2006:705.1]
synonym: "Prickly heat (disorder)" EXACT [SNOMEDCT_2005_07_31:72658003]
synonym: "Prickly heat - miliaria" EXACT [SNOMEDCT_2005_07_31:201190003]
synonym: "Prickly heat NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201197000]
synonym: "Sudamina" EXACT [MTHICD9_2006:705.1]
xref: ICD9CM:705.1
xref: MSH:D008883
xref: SNOMEDCT_2010_1_31:156415007
xref: SNOMEDCT_2010_1_31:201190003
xref: SNOMEDCT_2010_1_31:201194007
xref: SNOMEDCT_2010_1_31:201197000
xref: SNOMEDCT_2010_1_31:267813002
xref: SNOMEDCT_2010_1_31:44279002
xref: SNOMEDCT_2010_1_31:72658003
xref: UMLS_CUI:C0162423
is_a: DOID:1382 ! miliaria

[Term]
id: DOID:11155
name: hypohidrosis
synonym: "Hypohidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:45004005]
synonym: "Oligohidrosis" EXACT [MTHICD9_2006:705.0]
synonym: "Oligohidrosis" EXACT [SNOMEDCT_2005_07_31:201189007]
xref: MSH:D007007
xref: NCI:C34718
xref: SNOMEDCT_2010_1_31:201189007
xref: SNOMEDCT_2010_1_31:45004005
xref: UMLS_CUI:C0020620
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:11156
name: anhidrosis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "absence of sweating (finding)" EXACT [SNOMEDCT_2005_07_31:14662005]
synonym: "Adiaphoresis" EXACT [NCI2004_11_17:C34385]
synonym: "Anhidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:39659002]
xref: ICD9CM:705.0
xref: MSH:D007007
xref: NCI:C34385
xref: OMIM:206600
xref: SNOMEDCT_2010_1_31:14662005
xref: SNOMEDCT_2010_1_31:156414006
xref: SNOMEDCT_2010_1_31:201189007
xref: SNOMEDCT_2010_1_31:39659002
xref: UMLS_CUI:C0003028
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:11158
name: disorder of optic chiasm associated with non-pituitary neoplasm
synonym: "disorder of optic chiasm associated with non-pituitary neoplasm (disorder)" EXACT [SNOMEDCT_2005_07_31:64246009]
synonym: "disorder of optic chiasm associated with other neoplasm" EXACT [ICD9CM_2006:377.52]
xref: SNOMEDCT_2010_1_31:64246009
xref: UMLS_CUI:C0155309
is_obsolete: true

[Term]
id: DOID:1116
name: pertussis
alt_id: DOID:11333
alt_id: DOID:11751
def: "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)." [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800]
subset: gram-negative_bacterial_infectious_disease
synonym: "bordetella infection" EXACT []
synonym: "WC - Whooping cough" EXACT [SNOMEDCT_2005_07_31:27836007]
synonym: "whooping cough" EXACT [CSP2005:0368-3326]
xref: KEGG:05133
xref: MSH:D001885
xref: SNOMEDCT_2010_1_31:26484003
xref: UMLS_CUI:C0006015
is_a: DOID:0050339 ! commensal bacterial infectious disease

[Term]
id: DOID:11161
name: neonatal respiratory failure
synonym: "Neonatal respiratory failure (disorder)" EXACT [SNOMEDCT_2005_07_31:95619009]
synonym: "respiratory failure of newborn" EXACT [ICD9CM_2006:770.84]
synonym: "respiratory failure of newborn" EXACT [SNOMEDCT_2005_07_31:206317005]
xref: ICD9CM:770.84
xref: SNOMEDCT_2010_1_31:206317005
xref: SNOMEDCT_2010_1_31:95619009
xref: UMLS_CUI:C0521648
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:11162
name: respiratory failure
alt_id: DOID:11391
alt_id: DOID:11392
alt_id: DOID:11393
synonym: "acute and chronic respiratory failure" EXACT [ICD9CM_2006:518.84]
synonym: "acute respiratory Failure" EXACT [NCI2004_11_17:C27043]
synonym: "acute-on-chronic respiratory failure (disorder)" EXACT [SNOMEDCT_2005_07_31:67905004]
synonym: "chronic respiratory failure" EXACT []
synonym: "respiratory insufficiency/failure" EXACT [CSP2005:2596-8662]
xref: ICD9CM:518.81
xref: NCI:C27043
xref: SNOMEDCT_2010_1_31:65710008
xref: UMLS_CUI:C0264490
is_a: DOID:850 ! lung disease

[Term]
id: DOID:11163
name: apnea of prematurity
synonym: "primary apnea of newborn" EXACT []
xref: ICD9CM:770.81
xref: UMLS_CUI:C1135249
is_obsolete: true

[Term]
id: DOID:11164
name: band keratopathy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Band-shaped keratopathy" EXACT [ICD9CM_2006:371.43]
synonym: "Band-shaped keratopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:35055000]
xref: ICD9CM:371.43
xref: OMIM:217500
xref: SNOMEDCT_2010_1_31:35055000
xref: UMLS_CUI:C0155120
is_a: DOID:1237 ! corneal degeneration

[Term]
id: DOID:11165
name: common wart
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://en.wikipedia.org/wiki/Wart]
xref: ICD9CM:078.1
xref: MSH:D014860
xref: NCI:C27087
xref: NCI:C5028
xref: SNOMEDCT_2010_1_31:123201004
xref: SNOMEDCT_2010_1_31:154361008
xref: SNOMEDCT_2010_1_31:154362001
xref: SNOMEDCT_2010_1_31:186685000
xref: SNOMEDCT_2010_1_31:186686004
xref: SNOMEDCT_2010_1_31:266198004
xref: SNOMEDCT_2010_1_31:30285000
xref: SNOMEDCT_2010_1_31:367507002
xref: SNOMEDCT_2010_1_31:57019003
xref: SNOMEDCT_2010_1_31:75003008
xref: UMLS_CUI:C0043037
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:11166
name: papillomavirus infectious disease
alt_id: DOID:4146
def: "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." [url:http\://emedicine.medscape.com/article/219110-overview]
synonym: "Human papilloma Virus Infection" EXACT [NCI2004_11_17:C27851]
synonym: "Human papilloma virus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240532009]
synonym: "Human papilloma virus infection, NOS" EXACT [SNOMEDCT_2005_07_31:367507002, SNOMEDCT_2005_07_31:75003008]
synonym: "human papilloma virus infectious disease" EXACT []
synonym: "Tumor Virus Infections" RELATED []
xref: NCI:C27851
xref: SNOMEDCT_2010_1_31:154362001
xref: SNOMEDCT_2010_1_31:186751006
xref: SNOMEDCT_2010_1_31:240532009
xref: SNOMEDCT_2010_1_31:367507002
xref: SNOMEDCT_2010_1_31:75003008
xref: UMLS_CUI:C0343641
is_obsolete: true

[Term]
id: DOID:11167
name: uterine cervix condylomata acuminata
def: "An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts." [url:http\://emedicine.medscape.com/article/781735-overview]
subset: sexually_transmitted_infectious_disease
synonym: "Condyloma of the Cervix Uteri" EXACT [NCI2004_11_17:C8421]
xref: NCI:C8421
xref: SNOMEDCT_2010_1_31:419266001
xref: UMLS_CUI:C0742136
is_obsolete: true

[Term]
id: DOID:11168
name: anogenital venereal wart
alt_id: DOID:7877
def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194d.html]
subset: sexually_transmitted_infectious_disease
synonym: "Anogenital Human papilloma Virus Infectious Disease" EXACT [NCI2004_11_17:C4820]
synonym: "Anogenital warts (disorder)" EXACT [SNOMEDCT_2005_07_31:240542006]
synonym: "Condyloma acuminatum" RELATED [ICD9CM_2006:078.11]
synonym: "genital wart virus infectious disease" EXACT []
synonym: "Genital warts" EXACT [SNOMEDCT_2005_07_31:154365004]
synonym: "venereal wart" EXACT [CSP2005:2020-4312]
xref: ICD9CM:078.11
xref: MSH:D003218
xref: NCI:C2960
xref: SNOMEDCT_2010_1_31:123157002
xref: SNOMEDCT_2010_1_31:154361008
xref: SNOMEDCT_2010_1_31:154365004
xref: SNOMEDCT_2010_1_31:186688003
xref: SNOMEDCT_2010_1_31:22020001
xref: SNOMEDCT_2010_1_31:240542006
xref: SNOMEDCT_2010_1_31:266113007
xref: SNOMEDCT_2010_1_31:266198004
xref: SNOMEDCT_2010_1_31:302812006
xref: UMLS_CUI:C0009663
xref: UMLS_CUI:C0554632
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:11169
name: vaginal condylomata acuminata
def: "An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts." [url:http\://emedicine.medscape.com/article/781735-overview]
subset: sexually_transmitted_infectious_disease
synonym: "vaginal Condyloma Acuminatum" EXACT [NCI2004_11_17:C4947]
xref: NCI:C4947
xref: SNOMEDCT_2010_1_31:399599006
xref: UMLS_CUI:C1302539
is_obsolete: true

[Term]
id: DOID:11170
name: vulvar condylomata acuminata
def: "An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts." [url:http\://emedicine.medscape.com/article/781735-overview]
subset: sexually_transmitted_infectious_disease
synonym: "Condyloma acuminata of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:237110007]
synonym: "Vulvar Condyloma" EXACT [NCI2004_11_17:C4382]
xref: NCI:C4382
xref: SNOMEDCT_2010_1_31:237110007
xref: UMLS_CUI:C0341851
is_obsolete: true

[Term]
id: DOID:11171
name: urethral condylomata acuminata
def: "An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts." [url:http\://emedicine.medscape.com/article/781735-overview]
subset: sexually_transmitted_infectious_disease
synonym: "urethral Condylomata" EXACT [NCI2004_11_17:C6169]
xref: NCI:C6169
xref: UMLS_CUI:C1336883
is_obsolete: true

[Term]
id: DOID:11172
name: anal condylomata acuminata
def: "An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts." [url:http\://emedicine.medscape.com/article/781735-overview]
subset: sexually_transmitted_infectious_disease
synonym: "Condylomata of anus" EXACT [NCI2004_11_17:C4054]
xref: NCI:C4054
xref: UMLS_CUI:C0281779
is_obsolete: true

[Term]
id: DOID:11175
name: enophthalmos
synonym: "Enophthalmos (disorder)" EXACT [SNOMEDCT_2005_07_31:80093006]
synonym: "Enophthalmos NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194031000]
synonym: "Enophthalmos, unspecified as to cause" EXACT [ICD9CM_2006:376.50]
xref: ICD9CM:376.5
xref: ICD9CM:376.50
xref: MSH:D015841
xref: NCI:C79552
xref: SNOMEDCT_2010_1_31:155200004
xref: SNOMEDCT_2010_1_31:194031000
xref: SNOMEDCT_2010_1_31:267746003
xref: SNOMEDCT_2010_1_31:80093006
xref: UMLS_CUI:C0014306
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:11177
name: total internal ophthalmoplegia
synonym: "Total internal ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:86266009]
synonym: "Total or complete internal ophthalmoplegia" EXACT [ICD9CM_2006:367.52]
xref: ICD9CM:367.52
xref: SNOMEDCT_2010_1_31:193630009
xref: SNOMEDCT_2010_1_31:86266009
xref: UMLS_CUI:C0152197
is_a: DOID:10034 ! eye accommodation disease
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:11179
name: otitis media with effusion
def: "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion]
synonym: "Glue ear" EXACT [MTHICD9_2006:381.2]
synonym: "Glue ear" EXACT [SNOMEDCT_2005_07_31:194251006]
synonym: "Mucoid otitis media" EXACT [SNOMEDCT_2005_07_31:155220003]
synonym: "Mucoid otitis media" EXACT [SNOMEDCT_2005_07_31:267754001]
synonym: "Mucoid otitis media" EXACT [SNOMEDCT_2005_07_31:62450001]
synonym: "Mucoid otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194264007]
synonym: "Otitis media with effusion" EXACT [SNOMEDCT_2005_07_31:232255003]
synonym: "Otitis media with effusion - mucoid" EXACT [SNOMEDCT_2005_07_31:78868004]
synonym: "Otitis media, transudative" EXACT [MTHICD9_2006:381.4]
synonym: "Secretory Otitis Media" EXACT [NCI2004_11_17:C34886]
synonym: "Transudative otitis media" EXACT [SNOMEDCT_2005_07_31:43481006]
xref: MSH:D010034
xref: NCI:C34886
xref: SNOMEDCT_2010_1_31:155220003
xref: SNOMEDCT_2010_1_31:194251006
xref: SNOMEDCT_2010_1_31:194264007
xref: SNOMEDCT_2010_1_31:232255003
xref: SNOMEDCT_2010_1_31:267754001
xref: SNOMEDCT_2010_1_31:43481006
xref: SNOMEDCT_2010_1_31:62450001
xref: SNOMEDCT_2010_1_31:78868004
xref: UMLS_CUI:C0029883
is_obsolete: true

[Term]
id: DOID:11180
name: non-suppurative otitis media
def: "A otitis media which involves transudation of fluid in the middle ear without pus formation." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971]
synonym: "Non supp. otitis media" EXACT [SNOMEDCT_2005_07_31:267753007]
synonym: "Non-suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:275481002]
synonym: "Non-suppurative otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194265008]
synonym: "Nonsuppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:45935001]
synonym: "Nonsuppurative otitis media, not specified as acute or chronic" EXACT [ICD9CM_2006:381.4]
synonym: "Unspecified non-suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:194260003]
xref: ICD9CM:381.4
xref: SNOMEDCT_2010_1_31:194260003
xref: SNOMEDCT_2010_1_31:194265008
xref: SNOMEDCT_2010_1_31:267753007
xref: SNOMEDCT_2010_1_31:275481002
xref: SNOMEDCT_2010_1_31:45935001
xref: UMLS_CUI:C0271446
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:11181
name: serous glue ear
def: "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment." [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion]
xref: ICD9CM:381.1
xref: SNOMEDCT_2010_1_31:155219009
xref: SNOMEDCT_2010_1_31:194245001
xref: SNOMEDCT_2010_1_31:194250007
xref: SNOMEDCT_2010_1_31:81564005
xref: UMLS_CUI:C0155421
is_a: DOID:11180 ! non-suppurative otitis media

[Term]
id: DOID:11182
name: chronic otitis media with effusion
def: "A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
xref: ICD9CM:381.29
xref: UMLS_CUI:C0155426
is_obsolete: true

[Term]
id: DOID:11183
name: Haemophilus influenzae septicemia
subset: gram-negative_bacterial_infectious_disease
synonym: "Hemophilus influenzae septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:23863009]
synonym: "Septicemia due to H. influenzae" EXACT [MTHICD9_2006:038.41]
synonym: "Septicemia due to hemophilus influenzae [H. influenzae]" EXACT [ICD9CM_2006:038.41]
xref: ICD9CM:038.41
xref: SNOMEDCT_2010_1_31:23863009
xref: UMLS_CUI:C0276029
is_obsolete: true

[Term]
id: DOID:11184
name: acute conjunctivitis
xref: ICD9CM:372.03
xref: UMLS_CUI:C0029668
is_a: DOID:6195 ! conjunctivitis

[Term]
id: DOID:11186
name: allescheriosis
def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses." [url:http\://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/934264]
synonym: "Allescheriosis (disorder)" EXACT [SNOMEDCT_2005_07_31:80936003]
synonym: "Allescheriosis [Petriellidosis]" EXACT [ICD9CM_2006:117.6]
synonym: "Petriellidosis" EXACT [MTHICD9_2006:117.6]
xref: ICD9CM:117.6
xref: SNOMEDCT_2010_1_31:80936003
xref: UMLS_CUI:C0153285
is_a: DOID:0050292 ! primary systemic mycosis

[Term]
id: DOID:11189
name: pulp degeneration
xref: ICD9CM:522.2
xref: NCI:C34962
xref: SNOMEDCT_2010_1_31:196335003
xref: SNOMEDCT_2010_1_31:22361007
xref: UMLS_CUI:C0034100
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:1119
name: large for dates affecting management of mother
alt_id: DOID:10214
alt_id: DOID:1118
synonym: "antepartum excessive fetal growth affecting management of mother" EXACT []
synonym: "Excessive fetal growth affecting management of mother, delivered" EXACT []
synonym: "Excessive fetal growth, affecting management of mother, antepartum" EXACT [ICD9CM_2006:656.63]
synonym: "Excessive fetal growth, affecting management of mother, delivered" EXACT [ICD9CM_2006:656.61]
xref: ICD9CM:656.6
xref: SNOMEDCT_2010_1_31:22173004
xref: UMLS_CUI:C0157123
is_obsolete: true

[Term]
id: DOID:11190
name: pseudomembranous conjunctivitis
def: "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid." [url:http\://bjo.bmj.com/content/55/5/312.full.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/9400798]
synonym: "Pseudomembranous Conjunctivitis" EXACT [NCI2004_11_17:C35196]
synonym: "Pseudomembranous conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:72115001]
xref: ICD9CM:372.04
xref: NCI:C35196
xref: SNOMEDCT_2010_1_31:193862009
xref: SNOMEDCT_2010_1_31:267643002
xref: SNOMEDCT_2010_1_31:72115001
xref: UMLS_CUI:C0155144
is_a: DOID:11184 ! acute conjunctivitis

[Term]
id: DOID:11193
name: syndactyly
def: "A synostosis that results_in the fusion of two or more digits." [url:http\://emedicine.medscape.com/article/1244420-overview, url:http\://en.wikipedia.org/wiki/Syndactyly, url:http\://www.hmc.psu.edu/healthinfo/pq/poly.htm, url:http\://www.wheelessonline.com/ortho/syndactyly]
comment: Xref MGI.
synonym: "chromosome 2q35 duplication syndrome" EXACT [OMIM:185900]
synonym: "symphalangism" EXACT [SNOMEDCT_2005_07_31:253975004]
synonym: "symphalangy (disorder)" EXACT [SNOMEDCT_2005_07_31:75352001]
synonym: "webbing of digits" EXACT [MTHICD9_2006:755.1]
xref: ICD10CM:Q70
xref: ICD9CM:755.1
xref: MSH:D013576
xref: NCI:C87125
xref: OMIM:185900
xref: OMIM:186000
xref: OMIM:186100
xref: OMIM:186200
xref: OMIM:186300
xref: ORDO:295012
xref: ORDO:90025
xref: ORDO:93402
xref: ORDO:93403
xref: ORDO:93404
xref: ORDO:93406
xref: SNOMEDCT_2010_1_31:111313001
xref: SNOMEDCT_2010_1_31:156989004
xref: SNOMEDCT_2010_1_31:205151006
xref: SNOMEDCT_2010_1_31:253975004
xref: SNOMEDCT_2010_1_31:268252004
xref: SNOMEDCT_2010_1_31:373413006
xref: SNOMEDCT_2010_1_31:75352001
xref: UMLS_CUI:C0039075
is_a: DOID:11971 ! synostosis

[Term]
id: DOID:11195
name: acute laryngopharyngitis
def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis]
synonym: "acute laryngopharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:55355000]
xref: ICD9CM:465.0
xref: SNOMEDCT_2010_1_31:55355000
xref: UMLS_CUI:C0155817
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:11197
name: serous conjunctivitis except viral
synonym: "serous conjunctivitis, except viral (disorder)" EXACT [SNOMEDCT_2005_07_31:9824006]
xref: ICD9CM:372.01
xref: SNOMEDCT_2010_1_31:9824006
xref: UMLS_CUI:C0155142
is_a: DOID:11184 ! acute conjunctivitis

[Term]
id: DOID:11198
name: DiGeorge syndrome
def: "A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production." [url:http\://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "DiGeorge sequence (disorder)" EXACT [SNOMEDCT_2005_07_31:77128003]
synonym: "DiGeorge's syndrome" EXACT [NCI2004_11_17:C2989]
synonym: "Pharyngeal pouch syndrome" EXACT [MTHICD9_2006:279.11]
xref: ICD9CM:279.11
xref: MSH:D004062
xref: NCI:C2989
xref: OMIM:188400
xref: SNOMEDCT_2010_1_31:190991007
xref: SNOMEDCT_2010_1_31:77128003
xref: UMLS_CUI:C0012236
is_a: DOID:11200 ! T cell deficiency

[Term]
id: DOID:11199
name: hypoparathyroidism
def: "A parathyroid gland disease characterized_by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood." [url:http\://en.wikipedia.org/wiki/Hypoparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hypoparathyroidism, url:http\://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956]
comment: Xref MGI.
xref: ICD10CM:E20
xref: ICD9CM:252.1
xref: MSH:D007011
xref: NCI:C78350
xref: OMIM:146200
xref: OMIM:307700
xref: ORDO:2238
xref: SNOMEDCT_2010_1_31:154697005
xref: SNOMEDCT_2010_1_31:190457001
xref: SNOMEDCT_2010_1_31:267479004
xref: SNOMEDCT_2010_1_31:36976004
xref: UMLS_CUI:C0020626
is_a: DOID:11201 ! parathyroid gland disease
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:112
name: esophageal varix
alt_id: DOID:111
alt_id: DOID:13536
alt_id: DOID:14031
synonym: "Bleeding esophageal varices" EXACT []
synonym: "Bleeding esophageal varices (disorder)" EXACT [SNOMEDCT_2005_07_31:17709002]
synonym: "Bleeding oesophageal varices" EXACT [SNOMEDCT_2005_07_31:236067006]
synonym: "esophageal varices" EXACT []
synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [ICD9CM_2006:456.20]
synonym: "esophageal varices with bleeding" EXACT [ICD9CM_2006:456.0]
synonym: "esophageal varices with bleeding in disease EC (disorder)" EXACT [SNOMEDCT_2005_07_31:195475003]
synonym: "esophageal varices without bleeding" EXACT []
synonym: "esophageal varices without bleeding (disorder)" EXACT [SNOMEDCT_2005_07_31:14223005]
synonym: "esophageal varices without mention of bleeding" EXACT [ICD9CM_2006:456.1]
xref: ICD9CM:456.0
xref: NCI:C78282
xref: SNOMEDCT_2010_1_31:17709002
xref: SNOMEDCT_2010_1_31:195474004
xref: SNOMEDCT_2010_1_31:195475003
xref: SNOMEDCT_2010_1_31:195479009
xref: SNOMEDCT_2010_1_31:195643006
xref: SNOMEDCT_2010_1_31:236067006
xref: UMLS_CUI:C0155789
xref: UMLS_CUI:C0155791
xref: UMLS_CUI:C0155792
is_a: DOID:866 ! vein disease

[Term]
id: DOID:11200
name: T cell deficiency
xref: NCI:C27872
xref: UMLS_CUI:C1333147
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:11201
name: parathyroid gland disease
synonym: "disease of parathyroid glands" EXACT []
xref: ICD9CM:252
xref: ICD9CM:252.9
xref: MSH:D010279
xref: NCI:C26844
xref: SNOMEDCT_2010_1_31:190462000
xref: SNOMEDCT_2010_1_31:267478007
xref: SNOMEDCT_2010_1_31:73132005
xref: UMLS_CUI:C0030517
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:11202
name: primary hyperparathyroidism
alt_id: DOID:14790
comment: Xref MGI.
synonym: "familial benign hypercalcemia (disorder)" EXACT [SNOMEDCT_2005_07_31:190868007]
synonym: "familial primary hyperparathyroidism" EXACT []
synonym: "primary hyperparathyroidism (disorder)" EXACT [SNOMEDCT_2005_07_31:36348003]
xref: ICD10CM:E21.0
xref: ICD9CM:252.01
xref: MSH:D049950
xref: NCI:C48280
xref: OMIM:600166
xref: ORDO:99878
xref: SNOMEDCT_2010_1_31:190452007
xref: SNOMEDCT_2010_1_31:237653008
xref: SNOMEDCT_2010_1_31:36348003
xref: SNOMEDCT_2010_1_31:54920000
xref: UMLS_CUI:C0221002
xref: UMLS_CUI:C0271846
is_a: DOID:13543 ! hyperparathyroidism

[Term]
id: DOID:11203
name: Angelucci's syndrome
synonym: "acute atopic conjunctivitis" EXACT [ICD9CM_2006:372.05]
synonym: "acute Atopic Conjunctivitis" EXACT [NCI2004_11_17:C34353]
synonym: "acute atopic conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193863004]
synonym: "acute atopic conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:67678004]
synonym: "Angelucci syndrome" EXACT []
xref: ICD9CM:372.05
xref: NCI:C34353
xref: SNOMEDCT_2010_1_31:193863004
xref: SNOMEDCT_2010_1_31:67678004
xref: UMLS_CUI:C0001309
is_a: DOID:11204 ! allergic conjunctivitis

[Term]
id: DOID:11204
name: allergic conjunctivitis
def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_conjunctivitis]
xref: MSH:D003233
xref: NCI:C34506
xref: SNOMEDCT_2010_1_31:155168003
xref: SNOMEDCT_2010_1_31:193868008
xref: SNOMEDCT_2010_1_31:20212001
xref: SNOMEDCT_2010_1_31:231854006
xref: UMLS_CUI:C0009766
is_a: DOID:2475 ! chronic conjunctivitis

[Term]
id: DOID:11206
name: opioid abuse
def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Opioid]
xref: ICD9CM:305.5
xref: SNOMEDCT_2010_1_31:5602001
xref: UMLS_CUI:C0029095
is_a: DOID:302 ! substance abuse

[Term]
id: DOID:11211
name: buphthalmos
comment: OMIM mapping confirmed by DO. [LS].
synonym: "simple buphthalmos" EXACT [SNOMEDCT_2005_07_31:268157004]
xref: ICD9CM:743.21
xref: OMIM:231300
xref: SNOMEDCT_2010_1_31:13832009
xref: SNOMEDCT_2010_1_31:204116009
xref: SNOMEDCT_2010_1_31:268157004
xref: UMLS_CUI:C0311251
is_a: DOID:11212 ! hydrophthalmos

[Term]
id: DOID:11212
name: hydrophthalmos
xref: ICD9CM:365.14
xref: ICD9CM:743.2
xref: ICD9CM:743.20
xref: MSH:D006871
xref: NCI:C50648
xref: SNOMEDCT_2010_1_31:13832009
xref: SNOMEDCT_2010_1_31:156898000
xref: SNOMEDCT_2010_1_31:193541000
xref: SNOMEDCT_2010_1_31:204111004
xref: SNOMEDCT_2010_1_31:204112006
xref: SNOMEDCT_2010_1_31:204113001
xref: SNOMEDCT_2010_1_31:204114007
xref: SNOMEDCT_2010_1_31:204115008
xref: SNOMEDCT_2010_1_31:204121007
xref: SNOMEDCT_2010_1_31:392368005
xref: SNOMEDCT_2010_1_31:392371002
xref: SNOMEDCT_2010_1_31:413728006
xref: SNOMEDCT_2010_1_31:71111008
xref: UMLS_CUI:C0020302
is_a: DOID:0050593 ! primary congenital glaucoma

[Term]
id: DOID:11213
name: acute contagious conjunctivitis
synonym: "acute contagious conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:240066005]
synonym: "Contagious opthalmia" EXACT [SNOMEDCT_2005_07_31:399047004]
synonym: "Pink eye" EXACT [SNOMEDCT_2005_07_31:155162002]
synonym: "Pink eye" EXACT [SNOMEDCT_2005_07_31:267734002]
synonym: "Pinkeye" EXACT [NCI2004_11_17:C35704]
synonym: "Pinkeye" EXACT [SNOMEDCT_2005_07_31:399219006]
xref: NCI:C35704
xref: SNOMEDCT_2010_1_31:155162002
xref: SNOMEDCT_2010_1_31:240066005
xref: SNOMEDCT_2010_1_31:267734002
xref: SNOMEDCT_2010_1_31:399047004
xref: SNOMEDCT_2010_1_31:399219006
xref: UMLS_CUI:C1313983
is_a: DOID:11184 ! acute conjunctivitis

[Term]
id: DOID:11215
name: premature rupture of the fetal membranes
alt_id: DOID:12565
alt_id: DOID:14540
synonym: "antepartum premature rupture of membranes" EXACT []
synonym: "delivered premature rupture of membranes" EXACT []
synonym: "Premature rupture of membranes - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199658006]
xref: ICD9CM:658.1
xref: MSH:D005322
xref: NCI:C87113
xref: OMIM:MTHU009015
xref: SNOMEDCT_2010_1_31:156189000
xref: SNOMEDCT_2010_1_31:156191008
xref: SNOMEDCT_2010_1_31:157050000
xref: SNOMEDCT_2010_1_31:199657001
xref: SNOMEDCT_2010_1_31:199663005
xref: SNOMEDCT_2010_1_31:237266003
xref: SNOMEDCT_2010_1_31:267338001
xref: SNOMEDCT_2010_1_31:44223004
xref: UMLS_CUI:C0015944
is_obsolete: true

[Term]
id: DOID:11217
name: chronic tympanitis
synonym: "chronic myringitis without mention of otitis media" EXACT [ICD9CM_2006:384.1]
synonym: "chronic tympanitis (disorder)" EXACT [SNOMEDCT_2005_07_31:89723004]
xref: ICD9CM:384.1
xref: SNOMEDCT_2010_1_31:89723004
xref: UMLS_CUI:C0395849
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:11219
name: conjunctival folliculosis
synonym: "acute follicular conjunctivitis" EXACT [ICD9CM_2006:372.02]
synonym: "acute follicular conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:41308008]
xref: ICD9CM:372.02
xref: SNOMEDCT_2010_1_31:41308008
xref: UMLS_CUI:C0155143
is_a: DOID:11184 ! acute conjunctivitis

[Term]
id: DOID:1122
name: spinal enthesopathy
synonym: "Spinal enthesopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:10317009]
xref: ICD9CM:720.1
xref: SNOMEDCT_2010_1_31:10317009
xref: UMLS_CUI:C0152090
is_obsolete: true

[Term]
id: DOID:11223
name: small intestine diverticulitis
alt_id: DOID:11224
synonym: "Diverticulosis of small intestine with hemorrhage" EXACT []
xref: ICD9CM:562.02
xref: UMLS_CUI:C0156164
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:11227
name: acute hemorrhagic conjunctivitis
def: "A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5328a2.htm, url:http\://www.cdc.gov/ncidod/eid/vol5no2/maitreyi.htm, url:http\://www.doh.state.fl.us/disease_ctrl/epi/htopics/reports/ahcpres.pdf]
synonym: "Apollo disease" EXACT [MTHICD9_2006:077.4]
synonym: "Epidemic hemorrhagic conjunctivitis" EXACT [ICD9CM_2006:077.4]
synonym: "viral conjunctivitis" RELATED []
xref: ICD9CM:077.4
xref: MSH:D003232
xref: NCI:C34505
xref: SNOMEDCT_2010_1_31:186677009
xref: SNOMEDCT_2010_1_31:31502007
xref: SNOMEDCT_2010_1_31:398264003
xref: SNOMEDCT_2010_1_31:398273006
xref: UMLS_CUI:C0009765
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:1123
name: spondyloarthropathy
synonym: "spondarthropathy" EXACT [SNOMEDCT_2005_07_31:359173000]
synonym: "spondylarthrosis" EXACT []
xref: MSH:D025242
xref: OMIM:106300
xref: SNOMEDCT_2010_1_31:357182002
xref: SNOMEDCT_2010_1_31:359173000
xref: SNOMEDCT_2010_1_31:372109003
xref: SNOMEDCT_2010_1_31:8847002
xref: UMLS_CUI:C0949691
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:11230
name: acute orbital inflammation
synonym: "acute inflammation of orbit" EXACT [ICD9CM_2006:376.0]
synonym: "acute inflammation of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:20551005]
synonym: "acute inflammation of orbit NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194006001]
synonym: "acute inflammation of orbit, unspecified" EXACT [ICD9CM_2006:376.00]
synonym: "Unspecified acute orbit inflammation (disorder)" EXACT [SNOMEDCT_2005_07_31:194004003]
xref: ICD9CM:376.0
xref: ICD9CM:376.00
xref: SNOMEDCT_2010_1_31:194004003
xref: SNOMEDCT_2010_1_31:194006001
xref: SNOMEDCT_2010_1_31:20551005
xref: UMLS_CUI:C0155256
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:11231
name: orbital periostitis
synonym: "orbital periostitis (disorder)" EXACT [SNOMEDCT_2005_07_31:65974003]
xref: ICD9CM:376.02
xref: SNOMEDCT_2010_1_31:65974003
xref: UMLS_CUI:C0155257
is_a: DOID:11230 ! acute orbital inflammation
is_a: DOID:9957 ! periostitis

[Term]
id: DOID:11232
name: orbital osteomyelitis
synonym: "orbital osteomyelitis (disorder)" EXACT [SNOMEDCT_2005_07_31:65875003]
xref: ICD9CM:376.03
xref: SNOMEDCT_2010_1_31:65875003
xref: UMLS_CUI:C0155258
is_a: DOID:11230 ! acute orbital inflammation

[Term]
id: DOID:11233
name: orbital tenonitis
synonym: "Tenonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:8976003]
xref: ICD9CM:376.04
xref: SNOMEDCT_2010_1_31:8976003
xref: UMLS_CUI:C0155259
is_a: DOID:11230 ! acute orbital inflammation

[Term]
id: DOID:11234
name: orbital cellulitis
synonym: "orbital cellulitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194005002]
xref: ICD9CM:376.01
xref: MSH:D054517
xref: SNOMEDCT_2010_1_31:194005002
xref: UMLS_CUI:C0149507
is_a: DOID:11230 ! acute orbital inflammation

[Term]
id: DOID:11235
name: chronic adhesive otitis media
xref: ICD9CM:385.1
xref: ICD9CM:385.10
xref: SNOMEDCT_2010_1_31:194330006
xref: SNOMEDCT_2010_1_31:194331005
xref: SNOMEDCT_2010_1_31:7699004
xref: UMLS_CUI:C0155478
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:11239
name: appendix cancer
def: "A intestinal cancer that is located_in the appendix." [url:http\://en.wikipedia.org/wiki/Vermiform_appendix]
subset: TopNodes_DOcancerslim
synonym: "cancer of the appendix" EXACT [NCI2004_11_17:C9330]
synonym: "malignant neoplasm of appendix vermiformis" EXACT [ICD9CM_2006:153.5]
synonym: "malignant tumor of appendix (disorder)" EXACT [SNOMEDCT_2005_07_31:363411007]
synonym: "malignant tumor of the appendix" EXACT [NCI2004_11_17:C9333]
xref: ICD9CM:153.5
xref: MSH:D001063
xref: NCI:C9330
xref: NCI:C9333
xref: SNOMEDCT_2010_1_31:363411007
xref: SNOMEDCT_2010_1_31:93679002
xref: UMLS_CUI:C0496779
is_a: DOID:10155 ! intestinal cancer

[Term]
id: DOID:11240
name: appendiceal neoplasm
synonym: "appendix neoplasm" EXACT [NCI2004_11_17:C4434]
synonym: "neoplasm of appendix (disorder)" EXACT [SNOMEDCT_2005_07_31:126846004]
xref: MSH:D001063
xref: NCI:C4434
xref: SNOMEDCT_2010_1_31:126846004
xref: UMLS_CUI:C0003614
is_a: DOID:4610 ! intestinal benign neoplasm

[Term]
id: DOID:11241
name: appendix lymphoma
synonym: "Appendiceal Lymphoma" EXACT [NCI2004_11_17:C5513]
xref: NCI:C5513
xref: UMLS_CUI:C1332328
is_a: DOID:11239 ! appendix cancer

[Term]
id: DOID:11242
name: plethora of newborn
synonym: "Neonatal polycythemia (disorder)" EXACT [SNOMEDCT_2005_07_31:32984002]
xref: ICD9CM:776.4
xref: NCI:C27069
xref: SNOMEDCT_2010_1_31:206518001
xref: SNOMEDCT_2010_1_31:32984002
xref: SNOMEDCT_2010_1_31:9170001
xref: UMLS_CUI:C0272153
is_a: DOID:8432 ! polycythemia

[Term]
id: DOID:11243
name: anemia of prematurity
synonym: "Anemia of prematurity (disorder)" EXACT [SNOMEDCT_2005_07_31:47100003]
xref: ICD9CM:776.6
xref: SNOMEDCT_2010_1_31:47100003
xref: UMLS_CUI:C0158996
is_a: DOID:11244 ! neonatal anemia

[Term]
id: DOID:11244
name: neonatal anemia
synonym: "ANEMIA NEONATAL" EXACT [MTH:NOCODE]
synonym: "Neonatal anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:234350007]
synonym: "Neonatal anemia, NOS" EXACT [SNOMEDCT_2005_07_31:111468003]
synonym: "Neonatal anemia, NOS" EXACT [SNOMEDCT_2005_07_31:276577009]
synonym: "Neonatal anemia, NOS" EXACT [SNOMEDCT_2005_07_31:33130007]
xref: MSH:D000751
xref: SNOMEDCT_2010_1_31:111468003
xref: SNOMEDCT_2010_1_31:234350007
xref: SNOMEDCT_2010_1_31:276577009
xref: SNOMEDCT_2010_1_31:33130007
xref: UMLS_CUI:C0002891
is_a: DOID:2355 ! anemia

[Term]
id: DOID:11245
name: transient neonatal neutropenia
synonym: "Transient neonatal neutropenia (disorder)" EXACT [SNOMEDCT_2005_07_31:55444004]
synonym: "Transient neonatal neutropenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206520003]
xref: ICD9CM:776.7
xref: SNOMEDCT_2010_1_31:206520003
xref: SNOMEDCT_2010_1_31:55444004
xref: UMLS_CUI:C0158997
is_a: DOID:1227 ! neutropenia

[Term]
id: DOID:11246
name: DIC in newborn
synonym: "Disseminated intravascular coagulation in newborn" EXACT [ICD9CM_2006:776.2]
synonym: "Disseminated intravascular coagulation in newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:34417008]
xref: ICD9CM:776.2
xref: SNOMEDCT_2010_1_31:34417008
xref: UMLS_CUI:C0158992
is_a: DOID:11247 ! disseminated intravascular coagulation

[Term]
id: DOID:11247
name: disseminated intravascular coagulation
synonym: "Defibrination syndrome" EXACT [ICD9CM_2006:286.6]
synonym: "DIC" EXACT [NCI2004_11_17:C2992]
synonym: "Diffuse or disseminated intravascular coagulation" EXACT [MTHICD9_2006:286.6]
xref: ICD9CM:286.6
xref: MSH:D004211
xref: NCI:C2992
xref: SNOMEDCT_2010_1_31:267563002
xref: SNOMEDCT_2010_1_31:67406007
xref: UMLS_CUI:C0012739
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:11248
name: hemorrhagic disease of newborn
synonym: "Hemorrhagic diathesis of newborn" EXACT [MTHICD9_2006:776.0]
synonym: "hemorrhagic disease of newborn" EXACT [CSP2005:0427-5157]
synonym: "Hemorrhagic disease of newborn" EXACT [ICD9CM_2006:776.0]
synonym: "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:12546009]
xref: ICD9CM:776.0
xref: MSH:D006475
xref: SNOMEDCT_2010_1_31:12546009
xref: UMLS_CUI:C0019088
is_obsolete: true

[Term]
id: DOID:11249
name: vitamin K deficiency hemorrhagic disease
synonym: "deficiency of vitamin K" EXACT [ICD9CM_2006:269.0]
synonym: "deficiency of vitamin K (disorder)" EXACT [SNOMEDCT_2005_07_31:124892003]
synonym: "vitamin K deficiency" EXACT [CSP2005:2116-7764]
synonym: "vitamin K deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:52675005]
xref: ICD9CM:269.0
xref: MSH:D014813
xref: SNOMEDCT_2010_1_31:124892003
xref: SNOMEDCT_2010_1_31:52675005
xref: UMLS_CUI:C0042880
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:11252
name: microcytic anemia
comment: OMIM mapping confirmed by DO. [SN].
xref: NCI:C35141
xref: OMIM:206200
xref: SNOMEDCT_2010_1_31:154787005
xref: SNOMEDCT_2010_1_31:234349007
xref: SNOMEDCT_2010_1_31:267553005
xref: UMLS_CUI:C0085576
is_a: DOID:2355 ! anemia

[Term]
id: DOID:11254
name: Brill-Zinsser disease
def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." [url:http\://en.wikipedia.org/wiki/Epidemic_typhus]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Brill Zinsser disease" EXACT [CSP2005:2623-8052]
synonym: "Brill's disease" EXACT [ICD9CM_2006:081.1]
synonym: "Brill-Zinsser disease (disorder)" EXACT [SNOMEDCT_2005_07_31:47761007]
synonym: "Latent typhus" RELATED []
synonym: "Recrudescent typhus" EXACT [MTHICD9_2006:081.1]
synonym: "Sporadic typhus" RELATED []
xref: ICD9CM:081.1
xref: MSH:D014438
xref: SNOMEDCT_2010_1_31:47761007
xref: UMLS_CUI:C0006181
is_a: DOID:0050480 ! epidemic typhus

[Term]
id: DOID:11256
name: typhus
alt_id: DOID:11255
alt_id: DOID:12353
def: "A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites." [url:http\://emedicine.medscape.com/article/231374-overview#a0104]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Classical typhus (fever)" RELATED []
synonym: "endemic flea-borne typhus" EXACT []
synonym: "Endemic Typhus fever" EXACT [MTHICD9_2006:081.0]
synonym: "Epidemic (louse-borne) typhus" RELATED []
synonym: "epidemic louse-borne typhus" EXACT []
synonym: "Epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED []
synonym: "European typhus" RELATED []
synonym: "Exanthematic Typhus fever NOS" EXACT [MTHICD9_2006:080]
synonym: "Exanthematous typhus" RELATED []
synonym: "Famine fever" RELATED []
synonym: "Flea typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:414263007]
synonym: "Flea-borne rickettsiosis" RELATED []
synonym: "Flea-borne typhus" RELATED []
synonym: "Hospital fever" RELATED []
synonym: "Jail fever" RELATED []
synonym: "Louse-borne [epidemic] typhus" EXACT [ICD9CM_2006:080]
synonym: "Louse-borne rickettsiosis" RELATED []
synonym: "Louse-borne typhus" RELATED []
synonym: "Mexican typhus" RELATED []
synonym: "Moscow typhus " RELATED []
synonym: "Murine [endemic] typhus" EXACT [ICD9CM_2006:081.0]
synonym: "Murine typhus" RELATED []
synonym: "Petechial fever" RELATED []
synonym: "Prison fever" RELATED []
synonym: "Rat flea typhus" RELATED []
synonym: "Ship fever" RELATED []
synonym: "Shop typhus" RELATED []
synonym: "Typhus exanthematique" RELATED []
synonym: "Typhus fever (disorder)" EXACT [SNOMEDCT_2005_07_31:187383009]
synonym: "Urban typhus" RELATED []
xref: ICD9CM:081.9
xref: MSH:D014438
xref: SNOMEDCT_2010_1_31:154375001
xref: SNOMEDCT_2010_1_31:187383009
xref: SNOMEDCT_2010_1_31:25668000
xref: SNOMEDCT_2010_1_31:266205000
xref: SNOMEDCT_2010_1_31:39111003
xref: SNOMEDCT_2010_1_31:414263007
xref: SNOMEDCT_2010_1_31:83838002
xref: UMLS_CUI:C0041471
xref: UMLS_CUI:C0041472
xref: UMLS_CUI:C0041473
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11257
name: social phobia
def: "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people." [url:http\://en.wikipedia.org/wiki/Social_phobia]
xref: ICD9CM:300.23
xref: MSH:D010698
xref: NCI:C34927
xref: SNOMEDCT_2010_1_31:192395002
xref: SNOMEDCT_2010_1_31:25501002
xref: UMLS_CUI:C0031572
is_a: DOID:591 ! phobic disorder

[Term]
id: DOID:11258
name: cat-scratch disease
def: "A primary bacterial infectious disease that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." [url:http\://en.wikipedia.org/wiki/Cat_scratch_disease, url:http\://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "benign lymphoreticulosis" EXACT [MTHICD9_2006:078.3]
synonym: "cat scratch fever" EXACT []
synonym: "Debre's Syndrome" EXACT []
synonym: "Debre-Mollaret Syndrome" EXACT []
synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT []
xref: ICD9CM:078.3
xref: MSH:D002372
xref: NCI:C84620
xref: SNOMEDCT_2010_1_31:123319006
xref: SNOMEDCT_2010_1_31:154370006
xref: SNOMEDCT_2010_1_31:266202002
xref: SNOMEDCT_2010_1_31:79974007
xref: UMLS_CUI:C0007361
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11259
name: Cytomegalovirus infectious disease
def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions." [url:http\://en.wikipedia.org/wiki/Cytomegalovirus]
synonym: "Cytomagalovirus infection" EXACT [SNOMEDCT_2005_07_31:266203007]
synonym: "Cytomegaloviral disease" EXACT [ICD9CM_2006:078.5]
synonym: "Cytomegaloviral disease, unspecified" EXACT [SNOMEDCT_2005_07_31:186699001]
synonym: "Cytomegaloviral disease, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187456009]
synonym: "cytomegalovirus infection" EXACT [CSP2005:3099-9294]
synonym: "Cytomegalovirus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:28944009]
synonym: "Salivary gland virus disease" EXACT [MTHICD9_2006:078.5]
synonym: "Salivary gland virus disease" EXACT [SNOMEDCT_2005_07_31:186695007]
xref: ICD9CM:078.5
xref: MSH:D003586
xref: NCI:C53649
xref: SNOMEDCT_2010_1_31:154371005
xref: SNOMEDCT_2010_1_31:186695007
xref: SNOMEDCT_2010_1_31:186699001
xref: SNOMEDCT_2010_1_31:187456009
xref: SNOMEDCT_2010_1_31:243578002
xref: SNOMEDCT_2010_1_31:266203007
xref: SNOMEDCT_2010_1_31:28944009
xref: UMLS_CUI:C0010823
is_obsolete: true

[Term]
id: DOID:11260
name: rabies
def: "A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis." [url:http\://en.wikipedia.org/wiki/Rabies, url:http\://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx]
subset: zoonotic_infectious_disease
synonym: "Lyssa" EXACT [MTHICD9_2006:071]
xref: ICD9CM:071
xref: MSH:D011818
xref: NCI:C28182
xref: SNOMEDCT_2010_1_31:14168008
xref: SNOMEDCT_2010_1_31:186644005
xref: SNOMEDCT_2010_1_31:187393002
xref: SNOMEDCT_2010_1_31:275370001
xref: UMLS_CUI:C0034494
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:11261
name: foot and mouth disease
def: "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." [url:http\://www.aphis.usda.gov/publications/animal_health/content/printable_version/fs_foot_mouth_disease07.pdf]
synonym: "Epizootic stomatitis" EXACT [MTHICD9_2006:078.4]
xref: ICD9CM:078.4
xref: MSH:D005536
xref: SNOMEDCT_2010_1_31:83894002
xref: UMLS_CUI:C0016514
is_obsolete: true

[Term]
id: DOID:11262
name: ornithosis
def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." [url:http\://en.wikipedia.org/wiki/Psittacosis, url:http\://www.nyc.gov/html/doh/html/cd/cdpsit.shtml]
subset: gram-negative_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "psittacosis" EXACT []
xref: ICD9CM:073
xref: ICD9CM:073.9
xref: MSH:D009956
xref: NCI:C34873
xref: SNOMEDCT_2010_1_31:154367007
xref: SNOMEDCT_2010_1_31:154369005
xref: SNOMEDCT_2010_1_31:186653003
xref: SNOMEDCT_2010_1_31:186657002
xref: SNOMEDCT_2010_1_31:266200005
xref: SNOMEDCT_2010_1_31:75116005
xref: UMLS_CUI:C0029291
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11263
name: Chlamydia trachomatis infectious disease
def: "A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." [url:http\://en.wikipedia.org/wiki/Chlamydia_infection]
subset: gram-negative_bacterial_infectious_disease
synonym: "chlamydial disease" EXACT [CSP2005:0638-2797]
synonym: "Chlamydial Infection" EXACT [NCI2004_11_17:C34463]
xref: MSH:D002690
xref: NCI:C34463
xref: SNOMEDCT_2010_1_31:105629000
xref: SNOMEDCT_2010_1_31:186734004
xref: SNOMEDCT_2010_1_31:187381006
xref: UMLS_CUI:C0008149
is_obsolete: true

[Term]
id: DOID:11264
name: Chlamydophila infectious disease
subset: gram-negative_bacterial_infectious_disease
xref: MSH:D023521
xref: UMLS_CUI:C0887976
is_obsolete: true

[Term]
id: DOID:11265
name: trachoma
alt_id: DOID:13013
alt_id: DOID:13264
def: "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea." [url:http\://en.wikipedia.org/wiki/Trachoma, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm, url:http\://www.who.int/blindness/causes/priority/en/index2.html]
subset: gram-negative_bacterial_infectious_disease
synonym: "active stage trachoma" EXACT []
synonym: "trachoma dubium" EXACT []
xref: ICD9CM:076
xref: ICD9CM:076.9
xref: MSH:D014141
xref: SNOMEDCT_2010_1_31:154367007
xref: SNOMEDCT_2010_1_31:186671005
xref: SNOMEDCT_2010_1_31:186672003
xref: SNOMEDCT_2010_1_31:187379009
xref: SNOMEDCT_2010_1_31:2576002
xref: SNOMEDCT_2010_1_31:266200005
xref: SNOMEDCT_2010_1_31:29976007
xref: SNOMEDCT_2010_1_31:52812002
xref: UMLS_CUI:C0040592
xref: UMLS_CUI:C0153107
xref: UMLS_CUI:C0153108
is_a: DOID:0050339 ! commensal bacterial infectious disease

[Term]
id: DOID:11266
name: hemorrhagic fever with renal syndrome
def: "A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." [url:http\://emedicine.medscape.com/article/982142-overview, url:http\://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm]
subset: zoonotic_infectious_disease
synonym: "Hemorrhagic fever, Russian" EXACT [MTHICD9_2006:078.6]
synonym: "Hemorrhagic nephrosonephritis" EXACT [ICD9CM_2006:078.6]
synonym: "HFRS" EXACT []
synonym: "Puumala virus nephropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:364756009]
xref: ICD9CM:078.6
xref: MSH:D006480
xref: NCI:C84753
xref: SNOMEDCT_2010_1_31:102455002
xref: SNOMEDCT_2010_1_31:186701001
xref: SNOMEDCT_2010_1_31:364756009
xref: SNOMEDCT_2010_1_31:70826003
xref: UMLS_CUI:C0019101
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:11267
name: keratomalacia
xref: ICD9CM:371.45
xref: MSH:C536156
xref: SNOMEDCT_2010_1_31:193827004
xref: SNOMEDCT_2010_1_31:85149007
xref: UMLS_CUI:C0152455
is_a: DOID:1237 ! corneal degeneration

[Term]
id: DOID:11268
name: vitamin A deficiency with keratomalacia
synonym: "vitamin A deficiency with keratomalacia (disorder)" EXACT [SNOMEDCT_2005_07_31:42639000]
xref: ICD9CM:264.4
xref: SNOMEDCT_2010_1_31:190613006
xref: SNOMEDCT_2010_1_31:42639000
xref: UMLS_CUI:C0154235
is_obsolete: true

[Term]
id: DOID:11269
name: chronic apical periodontitis
synonym: "chronic apical periodontitis (disorder)" EXACT [SNOMEDCT_2005_07_31:87782002]
synonym: "chronic apical periodontitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196345001]
xref: ICD9CM:522.6
xref: SNOMEDCT_2010_1_31:196343008
xref: SNOMEDCT_2010_1_31:196345001
xref: SNOMEDCT_2010_1_31:87782002
xref: UMLS_CUI:C0392492
is_a: DOID:823 ! periapical periodontitis

[Term]
id: DOID:11271
name: hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium
alt_id: DOID:11270
alt_id: DOID:14011
alt_id: DOID:14012
synonym: "hypertension secondary to renal disease, antepartum" EXACT []
synonym: "hypertension secondary to renal disease, postpartum" EXACT []
synonym: "hypertension secondary to renal disease, with delivery" EXACT []
xref: ICD9CM:642.1
xref: UMLS_CUI:C0156647
is_obsolete: true

[Term]
id: DOID:11275
name: muscle syphilis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilis of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:88943008]
xref: ICD9CM:095.6
xref: SNOMEDCT_2010_1_31:88943008
xref: UMLS_CUI:C0153182
is_obsolete: true

[Term]
id: DOID:11277
name: Plummer's disease
synonym: "Plummer disease" EXACT []
synonym: "Toxic nodular Goiter" EXACT [NCI2004_11_17:C35171]
synonym: "Toxic nodular goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:57777000]
synonym: "Toxic nodular goiter NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190254005]
synonym: "Toxic nodular goiter unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190250001]
xref: ICD9CM:242.3
xref: NCI:C35171
xref: SNOMEDCT_2010_1_31:190250001
xref: SNOMEDCT_2010_1_31:190254005
xref: SNOMEDCT_2010_1_31:57777000
xref: UMLS_CUI:C0342127
is_a: DOID:7998 ! hyperthyroidism

[Term]
id: DOID:11282
name: solar retinopathy
synonym: "Solar retinitis" EXACT [SNOMEDCT_2005_07_31:1135000]
xref: ICD9CM:363.31
xref: SNOMEDCT_2010_1_31:1135000
xref: UMLS_CUI:C0152131
is_a: DOID:11086 ! chorioretinal scar

[Term]
id: DOID:11283
name: peripheral scars of retina
xref: ICD9CM:363.34
xref: UMLS_CUI:C0154888
is_a: DOID:11086 ! chorioretinal scar

[Term]
id: DOID:11284
name: disseminated scars of retina
xref: ICD9CM:363.35
xref: UMLS_CUI:C0154889
is_obsolete: true

[Term]
id: DOID:11285
name: tick paralysis
def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm, url:http\://www.journals.uchicago.edu/doi/pdf/10.1086/313502, url:http\://www.ncbi.nlm.nih.gov/pubmed/10428629]
synonym: "Tick paralysis" EXACT [MTHICD9_2006:989.5]
synonym: "Tick paralysis (disorder)" EXACT [SNOMEDCT_2005_07_31:74225001]
xref: MSH:D013985
xref: SNOMEDCT_2010_1_31:74225001
xref: UMLS_CUI:C0040197
is_a: DOID:4109 ! tick infestation

[Term]
id: DOID:11286
name: neuromuscular junction toxic disorder
synonym: "Toxic myoneural disorder" EXACT [ICD9CM_2006:358.2]
synonym: "Toxic myoneural junction disorder" EXACT [SNOMEDCT_2005_07_31:17940001]
xref: ICD9CM:358.2
xref: MSH:D020511
xref: SNOMEDCT_2010_1_31:17940001
xref: UMLS_CUI:C0393939
is_obsolete: true

[Term]
id: DOID:11287
name: conditions involving the integument and temperature regulation of fetus and newborn
xref: ICD9CM:778
xref: SNOMEDCT_2010_1_31:206693001
xref: UMLS_CUI:C0159009
is_obsolete: true

[Term]
id: DOID:11289
name: ventilation pneumonitis
def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf]
synonym: "Air-conditioner and humidifier lung (disorder)" EXACT [SNOMEDCT_2005_07_31:195990006]
synonym: "Humidifier lung (disorder)" EXACT [SNOMEDCT_2005_07_31:48347002]
xref: ICD9CM:495.7
xref: SNOMEDCT_2010_1_31:195990006
xref: SNOMEDCT_2010_1_31:48347002
xref: UMLS_CUI:C0155891
is_a: DOID:841 ! extrinsic allergic alveolitis

[Term]
id: DOID:1129
name: pituitary apoplexy
synonym: "Pituitary apoplexy (disorder)" EXACT [SNOMEDCT_2005_07_31:237701005]
xref: MSH:D010899
xref: NCI:C26853
xref: SNOMEDCT_2010_1_31:237701005
xref: UMLS_CUI:C0032001
is_a: DOID:1130 ! pituitary infarct

[Term]
id: DOID:11294
name: arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system." [HP:0100026, url:http\://en.wikipedia.org/wiki/Arteriovenous_malformation]
synonym: "Arteriovenous hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:403966009]
synonym: "Cirsoid aneurysm" EXACT [SNOMEDCT_2005_07_31:204480002]
synonym: "Racemose aneurysm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:14156004]
synonym: "Racemose Angioma" EXACT [NCI2004_11_17:C4297]
synonym: "Racemose hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:11071001]
xref: CSP:0571-2717
xref: HP:0100026
xref: NCI:C4297
xref: SNOMEDCT_2010_1_31:11071001
xref: SNOMEDCT_2010_1_31:14156004
xref: SNOMEDCT_2010_1_31:204480002
xref: SNOMEDCT_2010_1_31:233982006
xref: SNOMEDCT_2010_1_31:403966009
xref: UMLS_CUI:C0334533
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:11295
name: retinal microaneurysm
synonym: "Retinal microaneurysm (disorder)" EXACT [SNOMEDCT_2005_07_31:34037000]
synonym: "Retinal microaneurysms NOS" EXACT [ICD9CM_2006:362.14]
synonym: "Retinal microaneurysms NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193363005]
xref: ICD9CM:362.14
xref: SNOMEDCT_2010_1_31:193363005
xref: SNOMEDCT_2010_1_31:34037000
xref: UMLS_CUI:C0154834
is_a: DOID:2462 ! retinal vascular disease

[Term]
id: DOID:11299
name: vertebral artery occlusion
synonym: "Occlusion and stenosis of vertebral artery" EXACT []
xref: ICD9CM:433.2
xref: UMLS_CUI:C0155724
is_a: DOID:5976 ! occlusion precerebral artery

[Term]
id: DOID:113
name: pneumopericardium
xref: MSH:D011026
xref: SNOMEDCT_2010_1_31:389994007
xref: SNOMEDCT_2010_1_31:390745009
xref: SNOMEDCT_2010_1_31:82542004
xref: UMLS_CUI:C0032319
is_obsolete: true

[Term]
id: DOID:1130
name: pituitary infarct
synonym: "Pituitary infarction" EXACT [NCI2004_11_17:C27117]
synonym: "Pituitary infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:95830009]
xref: NCI:C27117
xref: SNOMEDCT_2010_1_31:95830009
xref: UMLS_CUI:C0342405
is_a: DOID:3646 ! necrosis of pituitary

[Term]
id: DOID:11302
name: cercarial dermatitis
def: "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection." [url:http\://www.cdc.gov/parasites/swimmersitch/, url:http\://www.dpd.cdc.gov/dpdx/HTML/CercarialDermatitis.htm]
synonym: "Cutaneous schistosomiasis" EXACT [ICD9CM_2006:120.3]
synonym: "Sea bather's eruption (disorder)" EXACT [SNOMEDCT_2005_07_31:238534006]
xref: ICD9CM:120.3
xref: NCI:C34457
xref: SNOMEDCT_2010_1_31:187115002
xref: SNOMEDCT_2010_1_31:238534006
xref: SNOMEDCT_2010_1_31:86711009
xref: UMLS_CUI:C0546996
is_a: DOID:1395 ! schistosomiasis

[Term]
id: DOID:11307
name: subchronic state latent schizophrenia with acute exacerbation
xref: ICD9CM:295.53
xref: UMLS_CUI:C0154367
is_obsolete: true

[Term]
id: DOID:11308
name: latent schizophrenia in remission
synonym: "Latent schizophrenia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191565008]
synonym: "Latent schizophrenia, in remission" EXACT [ICD9CM_2006:295.55]
xref: ICD9CM:295.55
xref: SNOMEDCT_2010_1_31:191565008
xref: UMLS_CUI:C0154369
is_obsolete: true

[Term]
id: DOID:11309
name: chronic latent schizophrenia
synonym: "chronic latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191562006]
synonym: "Latent chronic Schizophrenia" EXACT [NCI2004_11_17:C35182]
synonym: "Latent schizophrenia, chronic state" EXACT [ICD9CM_2006:295.52]
xref: ICD9CM:295.52
xref: NCI:C35182
xref: SNOMEDCT_2010_1_31:191562006
xref: UMLS_CUI:C0338811
is_obsolete: true

[Term]
id: DOID:11312
name: Mobitz type II atrioventricular block
synonym: "Mobitz (type) II atrioventricular block" EXACT [ICD9CM_2006:426.12]
synonym: "Mobitz II atrioventricular block" EXACT [MTHICD9_2006:426.12]
synonym: "Mobitz type II atrioventricular block (disorder)" EXACT [SNOMEDCT_2005_07_31:28189009]
xref: ICD9CM:426.12
xref: NCI:C62018
xref: SNOMEDCT_2010_1_31:28189009
xref: UMLS_CUI:C0155700
is_a: DOID:0050822 ! second-degree atrioventricular block

[Term]
id: DOID:11314
name: Histoplasma duboisii retinitis
def: "An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1945308]
synonym: "Histoplasma duboisii with retinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187049007]
xref: ICD9CM:115.12
xref: SNOMEDCT_2010_1_31:187049007
xref: UMLS_CUI:C0153272
is_obsolete: true

[Term]
id: DOID:11315
name: African histoplasmosis
def: "A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions." [url:http\://www.cdc.gov/eid/content/13/11/1647.htm]
xref: ICD9CM:115.10
xref: UMLS_CUI:C0153270
is_a: DOID:1731 ! histoplasmosis

[Term]
id: DOID:11316
name: histoplasmosis retinitis
synonym: "Histoplasmosis with retinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187058000]
xref: ICD9CM:115.92
xref: SNOMEDCT_2010_1_31:187058000
xref: UMLS_CUI:C0153278
is_a: DOID:3612 ! retinitis

[Term]
id: DOID:11320
name: Kyasanur forest disease
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm]
subset: tick-borne_infectious_disease
xref: ICD9CM:065.2
xref: MSH:D007733
xref: SNOMEDCT_2010_1_31:23097003
xref: UMLS_CUI:C0022810
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:11327
name: acute schizophrenic episode subchronic state with acute exacerbation
xref: ICD9CM:295.43
xref: UMLS_CUI:C0154362
is_obsolete: true

[Term]
id: DOID:11328
name: schizophreniform disorder
def: "A psychotic disorder that involves schizophrenia symptoms over time period of one month." [url:http\://en.wikipedia.org/wiki/Schizophreniform_disorder]
xref: ICD9CM:295.4
xref: MSH:D011618
xref: SNOMEDCT_2010_1_31:88975006
xref: UMLS_CUI:C0036358
is_a: DOID:2468 ! psychotic disorder

[Term]
id: DOID:11329
name: ainhum
def: "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later." [url:http\://en.wikipedia.org/wiki/Ainhum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Ainhum (disorder)" EXACT [SNOMEDCT_2005_07_31:38528001]
synonym: "Dactylolysis spontanea" EXACT [MTHICD9_2006:136.0]
xref: ICD9CM:136.0
xref: MSH:D000387
xref: NCI:C84544
xref: OMIM:103400
xref: SNOMEDCT_2010_1_31:38528001
xref: SNOMEDCT_2010_1_31:51404004
xref: UMLS_CUI:C0001860
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:11330
name: erysipelas
subset: gram-positive_bacterial_infectious_disease
synonym: "Erysipelas (disorder)" EXACT [SNOMEDCT_2005_07_31:266005008]
synonym: "Erysipelas (disorder)" EXACT [SNOMEDCT_2005_07_31:44653001]
xref: ICD9CM:035
xref: MSH:D004886
xref: SNOMEDCT_2010_1_31:154305002
xref: SNOMEDCT_2010_1_31:266005008
xref: SNOMEDCT_2010_1_31:44653001
xref: UMLS_CUI:C0014733
is_a: DOID:2723 ! dermatitis

[Term]
id: DOID:11335
name: sarcoidosis
def: "A hypersensitivity reaction type IV disease characterized_by the growth of collections of inflammatory cells (granulomas) in multiple organs." [url:http\://en.wikipedia.org/wiki/Sarcoidosis, url:http\://ghr.nlm.nih.gov/glossary=sarcoidosis, url:http\://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956]
comment: Xref MGI.
synonym: "Boeck sarcoid" EXACT []
synonym: "lymphogranulomatosis" EXACT [CSP2005:2024-3715]
xref: ICD10CM:D86.0
xref: ICD9CM:135
xref: MSH:D012507
xref: NCI:C34995
xref: OMIM:181000
xref: OMIM:609464
xref: OMIM:612387
xref: OMIM:612388
xref: ORDO:797
xref: SNOMEDCT_2010_1_31:154425004
xref: SNOMEDCT_2010_1_31:31541009
xref: UMLS_CUI:C0036202
is_a: DOID:2916 ! hypersensitivity reaction type IV disease

[Term]
id: DOID:11336
name: rhinoscleroma
def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." [url:http\://en.wikipedia.org/wiki/Rhinoscleroma, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma]
subset: gram-negative_bacterial_infectious_disease
synonym: "Rhinoscleroma (disorder)" EXACT [SNOMEDCT_2005_07_31:72409005]
xref: ICD9CM:040.1
xref: MSH:D012226
xref: SNOMEDCT_2010_1_31:72409005
xref: UMLS_CUI:C0035468
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11337
name: Lemierre's syndrome
def: "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling." [url:http\://en.wikipedia.org/wiki/Fusobacterium_necrophorum, url:http\://www.bsac.org.uk/pyxis/head_and_Neck_Infections/Necrobacillosis/NecrobacillosisF.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis]
subset: gram-negative_bacterial_infectious_disease
synonym: "acute sore throat" RELATED []
synonym: "human necrobacillosis" EXACT []
synonym: "Lemierre syndrome" EXACT []
synonym: "postanginal sepsis" EXACT []
xref: ICD9CM:040.3
xref: MSH:D005674
xref: SNOMEDCT_2010_1_31:52542005
xref: UMLS_CUI:C0027537
is_a: DOID:0050339 ! commensal bacterial infectious disease

[Term]
id: DOID:11338
name: tetanus
def: "A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." [url:http\://emedicine.medscape.com/article/786414-overview#a0104, url:http\://en.wikipedia.org/wiki/Tetanus]
subset: gram-positive_bacterial_infectious_disease
synonym: "clostridial tetanus" EXACT [CSP2005:0368-2622]
synonym: "Infection due to Clostridium tetani (disorder)" EXACT [SNOMEDCT_2005_07_31:276202003]
synonym: "Tetanus (disorder)" EXACT [SNOMEDCT_2005_07_31:76902006]
xref: ICD9CM:037
xref: MSH:D013742
xref: NCI:C85185
xref: SNOMEDCT_2010_1_31:154312006
xref: SNOMEDCT_2010_1_31:276202003
xref: SNOMEDCT_2010_1_31:76902006
xref: UMLS_CUI:C0039614
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11339
name: pneumocystosis
def: "An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia]
synonym: "Pneumocystis carinii pneumonia" EXACT [SNOMEDCT_2005_07_31:155557008]
synonym: "Pneumocystis jirovecii pneumonia" EXACT []
synonym: "Pneumocystis pneumonia" EXACT [CSP2005:2596-6076]
synonym: "Pneumocystosis" EXACT [ICD9CM_2006:136.3]
synonym: "Pneumocystosis pneumonia" EXACT [SNOMEDCT_2005_07_31:415125002]
synonym: "pulmonary pneumocystosis (disorder)" EXACT [SNOMEDCT_2005_07_31:57541005]
xref: ICD9CM:136.3
xref: MSH:D011020
xref: NCI:C3334
xref: SNOMEDCT_2010_1_31:155557008
xref: SNOMEDCT_2010_1_31:415125002
xref: SNOMEDCT_2010_1_31:57541005
xref: SNOMEDCT_2010_1_31:88860002
xref: UMLS_CUI:C0032305
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:1134
name: gingival recession
alt_id: DOID:1133
alt_id: DOID:13280
alt_id: DOID:13901
alt_id: DOID:2405
synonym: "Gingival recession" EXACT [ICD9CM_2006:523.2]
synonym: "Gingival recession" EXACT [SNOMEDCT_2005_07_31:155645006]
synonym: "Gingival recession (disorder)" EXACT [SNOMEDCT_2005_07_31:4356008]
synonym: "Gingival recession NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196360003]
synonym: "Gingival recession, localized" EXACT [ICD9CM_2006:523.24]
synonym: "Gingival recession, unspecified" EXACT [ICD9CM_2006:523.20]
synonym: "localized gingival recession" EXACT []
synonym: "localized gingival recession (disorder)" EXACT [SNOMEDCT_2005_07_31:59898000]
synonym: "minimal gingival recession" EXACT []
synonym: "moderate gingival recession" EXACT []
synonym: "severe gingival recession" EXACT []
xref: ICD9CM:523.2
xref: ICD9CM:523.20
xref: MSH:D005889
xref: NCI:C82068
xref: SNOMEDCT_2010_1_31:155645006
xref: SNOMEDCT_2010_1_31:196360003
xref: SNOMEDCT_2010_1_31:4356008
xref: SNOMEDCT_2010_1_31:59898000
xref: UMLS_CUI:C0017572
xref: UMLS_CUI:C0266916
xref: UMLS_CUI:C1456171
xref: UMLS_CUI:C1456172
xref: UMLS_CUI:C1456173
is_a: DOID:1483 ! gingival disease

[Term]
id: DOID:11340
name: Pneumocystis infectious disease
def: "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." [url:http\://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm]
synonym: "Infection by Pneumocystis carinii (disorder)" EXACT [SNOMEDCT_2005_07_31:111918002]
xref: MSH:D016720
xref: SNOMEDCT_2010_1_31:111918002
xref: UMLS_CUI:C0851886
is_obsolete: true

[Term]
id: DOID:11341
name: fungal lung infectious disease
def: "A lung disease that is a mycosis caused by fungal growth in the lungs." [url:http\://en.wikipedia.org/wiki/Fungal_infection]
xref: MSH:D008172
xref: UMLS_CUI:C0024116
is_obsolete: true

[Term]
id: DOID:11342
name: arcus senilis
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Arcus of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:231924000]
synonym: "corneal arcus" EXACT []
xref: MSH:D001112
xref: OMIM:107800
xref: SNOMEDCT_2010_1_31:111522004
xref: SNOMEDCT_2010_1_31:155159000
xref: SNOMEDCT_2010_1_31:231924000
xref: UMLS_CUI:C0003742
is_a: DOID:11343 ! scleral disease
is_a: DOID:1237 ! corneal degeneration

[Term]
id: DOID:11343
name: scleral disease
synonym: "disorder of sclera (disorder)" EXACT [SNOMEDCT_2005_07_31:33064008]
xref: MSH:D015422
xref: NCI:C79717
xref: SNOMEDCT_2010_1_31:33064008
xref: UMLS_CUI:C0036412
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:11346
name: congenital osteodystrophy
xref: ICD9CM:756.59
xref: UMLS_CUI:C0029559
is_obsolete: true

[Term]
id: DOID:11347
name: Meniere's disease in remission
synonym: "Inactive Meniere's disease" EXACT [ICD9CM_2006:386.04]
synonym: "Mnire's disease in remission" EXACT [SNOMEDCT_2005_07_31:194351009]
xref: ICD9CM:386.04
xref: SNOMEDCT_2010_1_31:194351009
xref: SNOMEDCT_2010_1_31:39957002
xref: UMLS_CUI:C0155499
is_obsolete: true

[Term]
id: DOID:11349
name: epilepsia partialis continua
xref: ICD9CM:345.7
xref: MSH:D017036
xref: SNOMEDCT_2010_1_31:193017009
xref: SNOMEDCT_2010_1_31:241006
xref: SNOMEDCT_2010_1_31:423086004
xref: UMLS_CUI:C0085543
is_obsolete: true

[Term]
id: DOID:11350
name: grand mal status epilepticus
synonym: "Grand mal status" EXACT [SNOMEDCT_2005_07_31:192998006]
synonym: "Grand mal status (disorder)" EXACT [SNOMEDCT_2005_07_31:13973009]
synonym: "Grand mal status, epileptic" EXACT [ICD9CM_2006:345.3]
xref: ICD9CM:345.3
xref: MSH:D013226
xref: SNOMEDCT_2010_1_31:13973009
xref: SNOMEDCT_2010_1_31:192998006
xref: UMLS_CUI:C0311335
is_obsolete: true

[Term]
id: DOID:11352
name: epilepsia partialis continua with intractable epilepsy
xref: ICD9CM:345.71
xref: UMLS_CUI:C0154718
is_obsolete: true

[Term]
id: DOID:11353
name: bladder diverticulum
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Diverticulum - bladder" EXACT [SNOMEDCT_2005_07_31:156977001]
synonym: "Diverticulum - bladder" EXACT [SNOMEDCT_2005_07_31:268335001]
synonym: "Diverticulum of bladder" EXACT [ICD9CM_2006:596.3]
synonym: "Diverticulum of bladder" EXACT [SNOMEDCT_2005_07_31:155888001]
synonym: "Diverticulum of bladder" EXACT [SNOMEDCT_2005_07_31:252004007]
synonym: "Diverticulum of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:197866008]
synonym: "Diverticulum of bladder (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:21853005]
synonym: "Diverticulum of bladder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197869001]
xref: ICD9CM:596.3
xref: OMIM:109820
xref: SNOMEDCT_2010_1_31:155888001
xref: SNOMEDCT_2010_1_31:156977001
xref: SNOMEDCT_2010_1_31:197866008
xref: SNOMEDCT_2010_1_31:197869001
xref: SNOMEDCT_2010_1_31:21853005
xref: SNOMEDCT_2010_1_31:252004007
xref: SNOMEDCT_2010_1_31:268335001
xref: UMLS_CUI:C0156273
is_a: DOID:365 ! bladder disease

[Term]
id: DOID:11354
name: stone in bladder diverticulum
synonym: "calculus in diverticulum of bladder" EXACT [ICD9CM_2006:594.0]
synonym: "calculus in diverticulum of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:18109005]
xref: ICD9CM:594.0
xref: SNOMEDCT_2010_1_31:18109005
xref: UMLS_CUI:C0156265
is_a: DOID:11353 ! bladder diverticulum
is_a: DOID:11355 ! bladder calculus

[Term]
id: DOID:11355
name: bladder calculus
xref: MSH:D001744
xref: NCI:C26707
xref: SNOMEDCT_2010_1_31:155879005
xref: SNOMEDCT_2010_1_31:197830007
xref: SNOMEDCT_2010_1_31:70650003
xref: UMLS_CUI:C0005683
is_a: DOID:365 ! bladder disease
is_a: DOID:9590 ! lower urinary tract calculus

[Term]
id: DOID:11360
name: Phlebotomus fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." [url:http\://en.wikipedia.org/wiki/Pappataci_fever, url:http\://www.bjbms.org/archives/2009-1/current%20issue6.pdf]
subset: zoonotic_infectious_disease
synonym: "pappataci fever" EXACT []
synonym: "Sandfly fever" EXACT [SNOMEDCT_2005_07_31:186605002]
synonym: "Sandfly-borne arboviral fever" EXACT [SNOMEDCT_2005_07_31:240517002]
synonym: "Sandfly-borne bunyavirus fever (disorder)" EXACT [SNOMEDCT_2005_07_31:240518007]
synonym: "Sandfly-borne phleboviral disease" EXACT [SNOMEDCT_2005_07_31:407476002]
xref: ICD9CM:066.0
xref: MSH:D010217
xref: SNOMEDCT_2010_1_31:186605002
xref: SNOMEDCT_2010_1_31:186606001
xref: SNOMEDCT_2010_1_31:240517002
xref: SNOMEDCT_2010_1_31:240518007
xref: SNOMEDCT_2010_1_31:33670001
xref: SNOMEDCT_2010_1_31:407476002
xref: UMLS_CUI:C0030372
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:11361
name: tickborne fever
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
synonym: "pasture fever" EXACT []
synonym: "tick-borne fever" EXACT []
synonym: "Tick-borne fever (disorder)" EXACT [SNOMEDCT_2005_07_31:25495004]
synonym: "Tick-borne fever NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186608000]
xref: ICD9CM:066.1
xref: SNOMEDCT_2010_1_31:186608000
xref: SNOMEDCT_2010_1_31:25495004
xref: UMLS_CUI:C0040199
is_obsolete: true

[Term]
id: DOID:11364
name: lens subluxation
synonym: "Lens subluxation" EXACT [SNOMEDCT_2005_07_31:155203002]
synonym: "Lens subluxation" EXACT [SNOMEDCT_2005_07_31:267748002]
synonym: "Subluxation of lens" EXACT [ICD9CM_2006:379.32]
synonym: "Subluxation of lens (disorder)" EXACT [SNOMEDCT_2005_07_31:65814009]
xref: ICD9CM:379.32
xref: MSH:D007906
xref: NCI:C34772
xref: SNOMEDCT_2010_1_31:155203002
xref: SNOMEDCT_2010_1_31:267748002
xref: SNOMEDCT_2010_1_31:65814009
xref: UMLS_CUI:C0023316
is_a: DOID:110 ! lens disease

[Term]
id: DOID:11367
name: congenital aphakia
comment: OMIM mapping confirmed by DO. [SN].
synonym: "APHAKIA, CONGENITAL PRIMARY" EXACT []
synonym: "Congenital absence of lens" EXACT []
synonym: "Congenital aphakia" EXACT [ICD9CM_2006:743.35]
synonym: "Congenital Aphakia" EXACT [NCI2004_11_17:C35172]
synonym: "Congenital aphakia (disorder)" EXACT [SNOMEDCT_2005_07_31:35387008]
xref: ICD9CM:743.35
xref: NCI:C35172
xref: OMIM:610256
xref: SNOMEDCT_2010_1_31:35387008
xref: UMLS_CUI:C0152422
is_a: DOID:110 ! lens disease

[Term]
id: DOID:11371
name: functional diarrhea
synonym: "Functional diarrhea (disorder)" EXACT [SNOMEDCT_2005_07_31:47812002]
xref: ICD9CM:564.5
xref: SNOMEDCT_2010_1_31:47812002
xref: UMLS_CUI:C0156173
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:11372
name: megacolon
alt_id: DOID:1771
def: "A colonic disease that is characterized by an abnormal dilation of the colon." [url:http\://en.wikipedia.org/wiki/Megacolon]
synonym: "Dilatation of colon" EXACT [MTHICD9_2006:564.7, SNOMEDCT_2005_07_31:197138002, SNOMEDCT_2005_07_31:33995003]
synonym: "Megacolon" EXACT []
synonym: "Megacolon excluding Hirschsprung's disease" EXACT [SNOMEDCT_2005_07_31:155789001]
synonym: "Megacolon excluding Hirschsprung's disease" EXACT [SNOMEDCT_2005_07_31:197138002]
synonym: "Megacolon excluding Hirschsprung's disease" EXACT [SNOMEDCT_2005_07_31:266528000]
synonym: "Megacolon excluding Hirschsprung's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:266459000]
synonym: "Megacolon NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197144003]
synonym: "Megacolon, not Hirschsprung's (disorder)" EXACT [SNOMEDCT_2005_07_31:33995003]
synonym: "Megacolon, other than Hirschsprung's" EXACT [ICD9CM_2006:564.7]
xref: MSH:D008531
xref: NCI:C34810
xref: SNOMEDCT_2010_1_31:197138002
xref: SNOMEDCT_2010_1_31:197144003
xref: SNOMEDCT_2010_1_31:33995003
xref: UMLS_CUI:C0025160
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:11374
name: anal spasm
synonym: "anal spasm (disorder)" EXACT [SNOMEDCT_2005_07_31:17440005]
synonym: "anal spasm NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197137007]
xref: ICD9CM:564.6
xref: SNOMEDCT_2010_1_31:17440005
xref: SNOMEDCT_2010_1_31:197136003
xref: SNOMEDCT_2010_1_31:197137007
xref: UMLS_CUI:C0152167
is_a: DOID:3128 ! anus disease

[Term]
id: DOID:11377
name: calculus of gallbladder and bile duct with acute cholecystitis
alt_id: DOID:11376
synonym: "calculus of gallbladder and bile duct with acute cholecystitis, with obstruction" EXACT []
xref: ICD9CM:574.6
xref: UMLS_CUI:C0375365
is_obsolete: true

[Term]
id: DOID:11379
name: gnathomiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm]
synonym: "Gnathostomiasis" EXACT [ICD9CM_2006:128.1]
synonym: "Infectious Disease by Gnathostoma (disorder)" EXACT [SNOMEDCT_2005_07_31:44086001]
xref: ICD9CM:128.1
xref: MSH:D058429
xref: SNOMEDCT_2010_1_31:44086001
xref: UMLS_CUI:C0018013
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:1138
name: spinal meningioma
synonym: "Spinal Cord meningioma" EXACT [NCI2004_11_17:C6935]
synonym: "Spinal meningioma (disorder)" EXACT [SNOMEDCT_2005_07_31:189167009]
xref: MSH:D008579
xref: NCI:C6935
xref: SNOMEDCT_2010_1_31:189167009
xref: UMLS_CUI:C0347515
is_a: DOID:1140 ! spinal canal and spinal cord meningioma

[Term]
id: DOID:11382
name: corneal neovascularization
synonym: "Corneal neovascularization" EXACT [ICD9CM_2006:370.6]
synonym: "Corneal neovascularization (disorder)" EXACT [SNOMEDCT_2005_07_31:19161004]
synonym: "Corneal neovascularization NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193791004]
synonym: "Corneal neovascularization, unspecified" EXACT [ICD9CM_2006:370.60]
synonym: "Unspecified corneal neovascularization (disorder)" EXACT [SNOMEDCT_2005_07_31:193789007]
xref: ICD9CM:370.6
xref: ICD9CM:370.60
xref: MSH:D016510
xref: SNOMEDCT_2010_1_31:19161004
xref: SNOMEDCT_2010_1_31:193789007
xref: SNOMEDCT_2010_1_31:193791004
xref: UMLS_CUI:C0085109
is_a: DOID:4677 ! keratitis

[Term]
id: DOID:11383
name: cryptorchidism
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Cryptorchism" EXACT [MTHICD9_2006:752.51]
synonym: "Undescended testicle" EXACT [SNOMEDCT_2005_07_31:156967003]
synonym: "undescended testicles" EXACT [NCI2004_11_17:C12326]
synonym: "Undescended testis" EXACT [ICD9CM_2006:752.51]
xref: ICD9CM:752.51
xref: MSH:D003456
xref: NCI:C12326
xref: OMIM:219050
xref: SNOMEDCT_2010_1_31:127907005
xref: SNOMEDCT_2010_1_31:156967003
xref: SNOMEDCT_2010_1_31:204878001
xref: SNOMEDCT_2010_1_31:204879009
xref: SNOMEDCT_2010_1_31:204882004
xref: SNOMEDCT_2010_1_31:268226005
xref: SNOMEDCT_2010_1_31:367721002
xref: SNOMEDCT_2010_1_31:37501009
xref: UMLS_CUI:C0010417
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:11385
name: expressive language disorder
def: "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits." [url:http\://en.wikipedia.org/wiki/Expressive_language_disorder]
synonym: "Developmental expressive language disorder" EXACT [SNOMEDCT_2005_07_31:268734000]
xref: ICD9CM:315.31
xref: SNOMEDCT_2010_1_31:192565006
xref: SNOMEDCT_2010_1_31:229733002
xref: SNOMEDCT_2010_1_31:268734000
xref: SNOMEDCT_2010_1_31:80360005
xref: UMLS_CUI:C0236826
is_a: DOID:93 ! language disorder

[Term]
id: DOID:11387
name: epidural abscess
def: "Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001416.htm]
synonym: "abscess epidural" EXACT [SNOMEDCT_2005_07_31:192752004]
synonym: "Epidural abscess" EXACT [SNOMEDCT_2005_07_31:310671007]
synonym: "Epidural abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:61974008]
xref: MSH:D020802
xref: SNOMEDCT_2010_1_31:192752004
xref: SNOMEDCT_2010_1_31:310671007
xref: SNOMEDCT_2010_1_31:61974008
xref: UMLS_CUI:C0270629
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:11389
name: subdural empyema
synonym: "Subdural abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:37660004]
xref: MSH:D013354
xref: SNOMEDCT_2010_1_31:37660004
xref: UMLS_CUI:C0038539
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:11390
name: cerebral arteritis
synonym: "Cerebral arteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:28366008]
xref: ICD9CM:437.4
xref: SNOMEDCT_2010_1_31:28366008
xref: UMLS_CUI:C0007773
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:11394
name: adult respiratory distress syndrome
def: "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome]
synonym: "acute respiratory Distress syndrome" EXACT [NCI2004_11_17:C4928]
synonym: "adult RDS" EXACT [NCI2004_11_17:C3353]
synonym: "ARDS" EXACT [CSP2005:2596-8861]
synonym: "Non-cardiogenic pulmonary edema (disorder)" EXACT [SNOMEDCT_2005_07_31:95437004]
synonym: "Respirat distress synd-adult" EXACT [SNOMEDCT_2005_07_31:155627006]
synonym: "Respirat distress synd-adult" EXACT [SNOMEDCT_2005_07_31:266411000]
synonym: "Shock lung" EXACT [MTHICD9_2006:518.5]
xref: MSH:D012128
xref: NCI:C3353
xref: SNOMEDCT_2010_1_31:155627006
xref: SNOMEDCT_2010_1_31:196150004
xref: SNOMEDCT_2010_1_31:196154008
xref: SNOMEDCT_2010_1_31:266411000
xref: SNOMEDCT_2010_1_31:67782005
xref: SNOMEDCT_2010_1_31:95437004
xref: UMLS_CUI:C0035222
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:11396
name: pulmonary edema
alt_id: DOID:13472
xref: MSH:D011654
xref: NCI:C26868
xref: SNOMEDCT_2010_1_31:19242006
xref: SNOMEDCT_2010_1_31:196119001
xref: SNOMEDCT_2010_1_31:266408001
xref: UMLS_CUI:C0034063
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:114
name: heart disease
def: "A cardiovascular system disease that involves the heart." [url:http\://en.wikipedia.org/wiki/Heart_disease]
xref: ICD9CM:429.9
xref: MSH:D006331
xref: NCI:C3079
xref: SNOMEDCT_2010_1_31:155263000
xref: SNOMEDCT_2010_1_31:194707003
xref: SNOMEDCT_2010_1_31:195152001
xref: SNOMEDCT_2010_1_31:266275004
xref: SNOMEDCT_2010_1_31:266311004
xref: SNOMEDCT_2010_1_31:56265001
xref: UMLS_CUI:C0018799
is_a: DOID:1287 ! cardiovascular system disease

[Term]
id: DOID:1140
name: spinal canal and spinal cord meningioma
xref: NCI:C5134
xref: UMLS_CUI:C1334264
is_a: DOID:5612 ! spinal cancer

[Term]
id: DOID:11400
name: pyelonephritis
xref: ICD9CM:590.80
xref: MSH:D011704
xref: NCI:C34965
xref: SNOMEDCT_2010_1_31:197779009
xref: SNOMEDCT_2010_1_31:197784003
xref: SNOMEDCT_2010_1_31:45816000
xref: UMLS_CUI:C0034186
is_a: DOID:2744 ! pyelitis

[Term]
id: DOID:11401
name: xanthogranulomatous pyelonephritis
synonym: "Xanthogranulomatous pyelonephritis" EXACT [SNOMEDCT_2005_07_31:197777006]
synonym: "Xanthogranulomatous pyelonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:38898003]
xref: MSH:D011705
xref: SNOMEDCT_2010_1_31:197777006
xref: SNOMEDCT_2010_1_31:38898003
xref: UMLS_CUI:C0034188
is_a: DOID:1076 ! chronic pyelonephritis

[Term]
id: DOID:11403
name: depressive state induced by drug
synonym: "Drug-induced depressive state (disorder)" EXACT [SNOMEDCT_2005_07_31:191495003]
synonym: "Drug-induced mood disorder" EXACT [ICD9CM_2006:292.84]
xref: ICD9CM:292.84
xref: SNOMEDCT_2010_1_31:191495003
xref: UMLS_CUI:C0338715
is_obsolete: true

[Term]
id: DOID:11404
name: diphtheritic laryngotracheitis
def: "A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf, url:http\://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf]
subset: gram-positive_bacterial_infectious_disease
synonym: "laryngeal diphtheria" EXACT [ICD9CM_2006:032.3]
synonym: "laryngeal Diphtheria" EXACT [NCI2004_11_17:C34546]
synonym: "laryngeal diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:50215002]
xref: ICD9CM:032.3
xref: NCI:C34546
xref: SNOMEDCT_2010_1_31:50215002
xref: UMLS_CUI:C0012557
is_obsolete: true

[Term]
id: DOID:11405
name: diphtheria
alt_id: DOID:4132
def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." [url:http\://en.wikipedia.org/wiki/Diphtheria]
subset: gram-positive_bacterial_infectious_disease
synonym: "corynebacterium infection" EXACT []
xref: MSH:D003354
xref: SNOMEDCT_2010_1_31:397434007
xref: UMLS_CUI:C0010153
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11406
name: choroiditis
xref: MSH:D002833
xref: SNOMEDCT_2010_1_31:16553002
xref: SNOMEDCT_2010_1_31:193449000
xref: UMLS_CUI:C0008526
is_a: DOID:1417 ! choroid disease

[Term]
id: DOID:11409
name: syphilitic disseminated chorioretinitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic disseminated retinochoroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:77939001]
xref: ICD9CM:094.83
xref: SNOMEDCT_2010_1_31:186889009
xref: SNOMEDCT_2010_1_31:77939001
xref: UMLS_CUI:C0153170
is_obsolete: true

[Term]
id: DOID:1141
name: alternating exotropia with V pattern
synonym: "Alternating exotropia with V pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:57805002]
xref: ICD9CM:378.17
xref: SNOMEDCT_2010_1_31:194095007
xref: SNOMEDCT_2010_1_31:57805002
xref: UMLS_CUI:C0155332
is_obsolete: true

[Term]
id: DOID:11418
name: Trichomonas urethritis
def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm]
synonym: "trichomonal urethritis" EXACT []
synonym: "Trichomonal urethritis (disorder)" EXACT [SNOMEDCT_2005_07_31:30116001]
xref: ICD9CM:131.02
xref: SNOMEDCT_2010_1_31:30116001
xref: UMLS_CUI:C0153314
is_obsolete: true

[Term]
id: DOID:1142
name: alternating exotropia
xref: ICD9CM:378.15
xref: MSH:D005099
xref: SNOMEDCT_2010_1_31:194093000
xref: SNOMEDCT_2010_1_31:37214009
xref: UMLS_CUI:C0152207
is_a: DOID:1143 ! exotropia

[Term]
id: DOID:11421
name: acquired cavovarus foot deformity
synonym: "acquired cavovarus deformity of foot (disorder)" EXACT [SNOMEDCT_2005_07_31:65362007]
synonym: "Cavovarus deformity of foot, acquired" EXACT [ICD9CM_2006:736.75]
xref: ICD9CM:736.75
xref: SNOMEDCT_2010_1_31:65362007
xref: UMLS_CUI:C0158493
is_obsolete: true

[Term]
id: DOID:11424
name: fallopian tube endometriosis
synonym: "Endometriosis of fallopian tube" EXACT [ICD9CM_2006:617.2]
synonym: "Endometriosis of fallopian tube (disorder)" EXACT [SNOMEDCT_2005_07_31:22611009]
xref: ICD9CM:617.2
xref: NCI:C26763
xref: SNOMEDCT_2010_1_31:22611009
xref: UMLS_CUI:C0014177
is_a: DOID:1962 ! fallopian tube disease
is_a: DOID:289 ! endometriosis

[Term]
id: DOID:11427
name: endosalpingiosis
synonym: "Endosalpingiosis (disorder)" EXACT [SNOMEDCT_2005_07_31:55850004]
xref: NCI:C40121
xref: SNOMEDCT_2010_1_31:55850004
xref: UMLS_CUI:C0269106
is_a: DOID:289 ! endometriosis

[Term]
id: DOID:11428
name: endometriosis of intestine
xref: ICD9CM:617.5
xref: SNOMEDCT_2010_1_31:198255005
xref: SNOMEDCT_2010_1_31:5562006
xref: UMLS_CUI:C0156347
is_a: DOID:289 ! endometriosis
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:11429
name: endometriosis of pelvic peritoneum
synonym: "Endometriosis of pelvic peritoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:198251001]
synonym: "Endometriosis of the pelvic peritoneum NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198252008]
xref: ICD9CM:617.3
xref: SNOMEDCT_2010_1_31:198251001
xref: SNOMEDCT_2010_1_31:198252008
xref: UMLS_CUI:C0156345
is_a: DOID:289 ! endometriosis

[Term]
id: DOID:1143
name: exotropia
synonym: "Divergent concomitant strabismus" EXACT [MTHICD9_2006:378.1]
synonym: "Divergent concomitant strabismus (disorder)" EXACT [SNOMEDCT_2005_07_31:399252000]
synonym: "Divergent Strabismus" EXACT [NCI2004_11_17:C34601]
synonym: "Exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:399054005]
synonym: "Exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:75400001]
synonym: "Exotropia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194098009]
synonym: "Exotropia, unspecified" EXACT [ICD9CM_2006:378.10]
synonym: "Unspecified exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194086004]
xref: ICD9CM:378.1
xref: ICD9CM:378.10
xref: MSH:D005099
xref: NCI:C34601
xref: SNOMEDCT_2010_1_31:155194007
xref: SNOMEDCT_2010_1_31:194086004
xref: SNOMEDCT_2010_1_31:194098009
xref: SNOMEDCT_2010_1_31:399054005
xref: SNOMEDCT_2010_1_31:399252000
xref: SNOMEDCT_2010_1_31:75400001
xref: UMLS_CUI:C0015310
is_a: DOID:540 ! strabismus

[Term]
id: DOID:11430
name: endometriosis in scar of skin
synonym: "Endometriosis in scar of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:53913001]
xref: ICD9CM:617.6
xref: SNOMEDCT_2010_1_31:53913001
xref: UMLS_CUI:C0156348
is_a: DOID:289 ! endometriosis

[Term]
id: DOID:11431
name: endometriosis of rectovaginal septum and vagina
synonym: "Endometriosis of rectovaginal septum and vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:198253003]
synonym: "Endometriosis of the rectovaginal septum and vagina NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198254009]
xref: ICD9CM:617.4
xref: SNOMEDCT_2010_1_31:198253003
xref: SNOMEDCT_2010_1_31:198254009
xref: UMLS_CUI:C0156346
is_a: DOID:289 ! endometriosis

[Term]
id: DOID:11432
name: endometriosis of ovary
alt_id: DOID:11426
synonym: "ovarian endometriosis" EXACT []
xref: ICD9CM:617.1
xref: NCI:C27628
xref: SNOMEDCT_2010_1_31:198250000
xref: SNOMEDCT_2010_1_31:266589005
xref: SNOMEDCT_2010_1_31:31007005
xref: UMLS_CUI:C0156344
xref: UMLS_CUI:C1335160
is_a: DOID:1100 ! ovarian disease
is_a: DOID:289 ! endometriosis

[Term]
id: DOID:11433
name: middle ear cholesteatoma
synonym: "Cholesteatoma of middle ear" EXACT [ICD9CM_2006:385.32]
synonym: "Cholesteatoma of middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:87688009]
synonym: "Cholesteatoma of the middle ear" EXACT [NCI2004_11_17:C3654]
synonym: "Cholesterolosis of middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:21461006]
synonym: "Epidermosis of ear" EXACT [MTHICD9_2006:385.3]
synonym: "Epidermosis of middle ear" EXACT [SNOMEDCT_2005_07_31:39911004]
synonym: "Unspecified cholesteatoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:194338004]
xref: ICD9CM:385.32
xref: MSH:D018424
xref: NCI:C3654
xref: SNOMEDCT_2010_1_31:194338004
xref: SNOMEDCT_2010_1_31:21461006
xref: SNOMEDCT_2010_1_31:39911004
xref: SNOMEDCT_2010_1_31:87688009
xref: UMLS_CUI:C0155490
is_a: DOID:10964 ! cholesteatoma of middle ear

[Term]
id: DOID:11436
name: recurrent cholesteatoma post-mastoidectomy
synonym: "recurrent cholesteatoma of postmastoidectomy cavity" EXACT [ICD9CM_2006:383.32]
synonym: "recurrent cholesteatoma of postmastoidectomy cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:55417009]
xref: ICD9CM:383.32
xref: SNOMEDCT_2010_1_31:55417009
xref: UMLS_CUI:C0155454
is_obsolete: true

[Term]
id: DOID:11441
name: macrodactylia of toes
synonym: "Macrodactylia of toes (disorder)" EXACT [SNOMEDCT_2005_07_31:4136000]
xref: ICD9CM:755.65
xref: SNOMEDCT_2010_1_31:4136000
xref: UMLS_CUI:C0158768
is_obsolete: true

[Term]
id: DOID:11442
name: malignant mast cell tumors involving lymph node of head
synonym: "malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93204001]
synonym: "malignant mast cell tumors involving lymph nodes of head, face, and neck" EXACT [ICD9CM_2006:202.61]
synonym: "Mast cell malignancy of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188662007]
xref: ICD9CM:202.61
xref: SNOMEDCT_2010_1_31:188662007
xref: SNOMEDCT_2010_1_31:93204001
xref: UMLS_CUI:C0686574
is_obsolete: true

[Term]
id: DOID:11446
name: Sciatic Neuropathy
synonym: "Sciatic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:52585001]
xref: MSH:D020426
xref: SNOMEDCT_2010_1_31:52585001
xref: UMLS_CUI:C0149940
is_a: DOID:12528 ! lesion of sciatic nerve

[Term]
id: DOID:11450
name: allergic cutaneous vasculitis
def: "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin." [sn:IEDB]
synonym: "Allergic Cutaneous Angiitis" EXACT [NCI2004_11_17:C35119]
synonym: "Autoimmune Hypersensitivity angiitis" EXACT []
xref: UMLS_CUI:C0042385
is_a: DOID:9809 ! hypersensitivity vasculitis

[Term]
id: DOID:11451
name: secondary syphilitic meningitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "acute secondary syphilitic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186863009]
synonym: "acute syphilitic meningitis (secondary)" EXACT [ICD9CM_2006:091.81]
synonym: "secondary acute syphilitic meningitis" EXACT []
xref: ICD9CM:091.81
xref: SNOMEDCT_2010_1_31:186863009
xref: UMLS_CUI:C0851315
is_obsolete: true

[Term]
id: DOID:11452
name: perinatal jaundice due to hepatocellular damage
synonym: "Perinatal jaundice due to hepatocellular damage (disorder)" EXACT [SNOMEDCT_2005_07_31:10877007]
synonym: "Perinatal jaundice due to hepatocellular damage NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206467002]
xref: ICD9CM:774.4
xref: SNOMEDCT_2010_1_31:10877007
xref: SNOMEDCT_2010_1_31:206463003
xref: SNOMEDCT_2010_1_31:206467002
xref: UMLS_CUI:C0158976
is_a: DOID:2383 ! neonatal jaundice

[Term]
id: DOID:11457
name: brain compression
synonym: "Compression of brain" EXACT [ICD9CM_2006:348.4]
synonym: "Compression of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:46963008]
synonym: "Compression of brain NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193053006]
xref: ICD9CM:348.4
xref: SNOMEDCT_2010_1_31:193053006
xref: SNOMEDCT_2010_1_31:46963008
xref: UMLS_CUI:C0009592
is_a: DOID:936 ! brain disease

[Term]
id: DOID:11459
name: pseudotumor cerebri
comment: OMIM mapping confirmed by DO. [SN].
synonym: "benign intracran. hypt." EXACT [SNOMEDCT_2005_07_31:155052007]
synonym: "benign intracran. hypt." EXACT [SNOMEDCT_2005_07_31:267701004]
synonym: "benign intracranial hypertension" EXACT [ICD9CM_2006:348.2]
synonym: "benign intracranial hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:68267002]
synonym: "idiopathic intracranial hypertension" EXACT []
synonym: "Pseudotumor cerebri" EXACT [MTHICD9_2006:348.2]
xref: ICD9CM:348.2
xref: MSH:D011559
xref: NCI:C85035
xref: OMIM:243200
xref: SNOMEDCT_2010_1_31:155052007
xref: SNOMEDCT_2010_1_31:267701004
xref: SNOMEDCT_2010_1_31:68267002
xref: UMLS_CUI:C0033845
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9428 ! intracranial hypertension

[Term]
id: DOID:11465
name: autonomic nervous system disease
synonym: "autonomic nervous system disorder" EXACT []
xref: ICD9CM:337.1
xref: MSH:D001342
xref: UMLS_CUI:C0154691
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:11472
name: subglottis cancer
synonym: "Ca larynx - subglottis" EXACT [SNOMEDCT_2005_07_31:154483008]
synonym: "Ca larynx - subglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:269559002]
synonym: "malignant Subglottic tumor" EXACT [NCI2004_11_17:C3546]
synonym: "malignant tumor of subglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:363430007]
xref: ICD9CM:161.2
xref: NCI:C3546
xref: SNOMEDCT_2010_1_31:154483008
xref: SNOMEDCT_2010_1_31:269559002
xref: SNOMEDCT_2010_1_31:363430007
xref: SNOMEDCT_2010_1_31:94075002
xref: UMLS_CUI:C0153485
is_a: DOID:2596 ! larynx cancer

[Term]
id: DOID:11476
name: osteoporosis
def: "A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density." [url:http\://en.wikipedia.org/wiki/Osteoporosis, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00232, url:http\://www.emedicinehealth.com/osteoporosis/article_em.htm, url:http\://www.mayoclinic.com/health/osteoporosis/DS00128, url:http\://www.medicinenet.com/osteoporosis/article.htm, url:http\://www.niams.nih.gov/Health_Info/Bone/default.asp, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000360.htm, url:http\://www.nof.org/]
comment: Xref MGI.
xref: EFO:0003882
xref: ICD9CM:733.0
xref: ICD9CM:733.00
xref: MSH:D010024
xref: NCI:C3298
xref: OMIM:166710
xref: SNOMEDCT_2010_1_31:156825006
xref: SNOMEDCT_2010_1_31:203428004
xref: SNOMEDCT_2010_1_31:203440004
xref: SNOMEDCT_2010_1_31:64859006
xref: UMLS_CUI:C0029456
is_a: DOID:0080011 ! bone resorption disease

[Term]
id: DOID:1148
name: polydactyly
alt_id: DOID:14779
synonym: "postaxial polydactyly" EXACT []
synonym: "Supernumerary digit" RELATED [SNOMEDCT_2005_07_31:205119005]
xref: ICD9CM:755.0
xref: ICD9CM:755.00
xref: MSH:D017689
xref: NCI:C87110
xref: OMIM:174200
xref: OMIM:174500
xref: OMIM:174700
xref: OMIM:603596
xref: SNOMEDCT_2010_1_31:156988007
xref: SNOMEDCT_2010_1_31:205119005
xref: SNOMEDCT_2010_1_31:205120004
xref: SNOMEDCT_2010_1_31:205136002
xref: SNOMEDCT_2010_1_31:367506006
xref: SNOMEDCT_2010_1_31:403562000
xref: SNOMEDCT_2010_1_31:74537000
xref: UMLS_CUI:C0152427
xref: UMLS_CUI:C0220697
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:11481
name: constrictive pericarditis
synonym: "Constrictive pericarditis" EXACT [ICD9CM_2006:423.2]
synonym: "Constrictive pericarditis" EXACT [SNOMEDCT_2005_07_31:155340008]
synonym: "Constrictive pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:85598007]
synonym: "Constrictive pericarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194969008]
xref: ICD9CM:423.2
xref: MSH:D010494
xref: NCI:C78246
xref: SNOMEDCT_2010_1_31:155340008
xref: SNOMEDCT_2010_1_31:194969008
xref: SNOMEDCT_2010_1_31:85598007
xref: UMLS_CUI:C0031048
is_a: DOID:1787 ! pericarditis

[Term]
id: DOID:11482
name: hemopericardium
def: "A pericardial effusion that results from blood in the pericardial sac." [url:http\://en.wikipedia.org/wiki/Hemopericardium]
synonym: "Haemopericardium" EXACT [SNOMEDCT_2005_07_31:155339006]
xref: ICD9CM:423.0
xref: MSH:D010490
xref: SNOMEDCT_2010_1_31:155339006
xref: SNOMEDCT_2010_1_31:23412002
xref: UMLS_CUI:C0019064
is_a: DOID:118 ! pericardial effusion

[Term]
id: DOID:11486
name: Horner's syndrome
synonym: "Bernard Horner syndrome" EXACT [CSP2005:1114-9021]
synonym: "cervical sympathetic paralysis" EXACT [SNOMEDCT_2005_07_31:12731000]
synonym: "Horner syndrome" EXACT []
xref: MSH:D006732
xref: NCI:C28155
xref: SNOMEDCT_2010_1_31:12731000
xref: SNOMEDCT_2010_1_31:192915005
xref: SNOMEDCT_2010_1_31:192922002
xref: UMLS_CUI:C0019937
is_a: DOID:11504 ! autonomic neuropathy

[Term]
id: DOID:11488
name: idiopathic peripheral autonomic neuropathy
synonym: "Idiopathic peripheral autonomic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:86489003]
synonym: "Idiopathic peripheral autonomic neuropathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192916006]
xref: ICD9CM:337.0
xref: SNOMEDCT_2010_1_31:192914009
xref: SNOMEDCT_2010_1_31:192916006
xref: SNOMEDCT_2010_1_31:86489003
xref: UMLS_CUI:C0154690
is_a: DOID:11465 ! autonomic nervous system disease

[Term]
id: DOID:11489
name: vitamin A deficiency with conjunctival xerosis and Bitot's spot
synonym: "vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:49340009]
synonym: "vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:190610009]
xref: ICD9CM:264.1
xref: SNOMEDCT_2010_1_31:190610009
xref: SNOMEDCT_2010_1_31:49340009
xref: UMLS_CUI:C0154232
is_obsolete: true

[Term]
id: DOID:11490
name: vitamin A deficiency with night blindness
synonym: "vitamin A deficiency with night blindness (disorder)" EXACT [SNOMEDCT_2005_07_31:15509004]
xref: ICD9CM:264.5
xref: SNOMEDCT_2010_1_31:15509004
xref: SNOMEDCT_2010_1_31:190614000
xref: UMLS_CUI:C0154236
is_obsolete: true

[Term]
id: DOID:11491
name: acquired night blindness
synonym: "acquired night blindness (disorder)" EXACT [SNOMEDCT_2005_07_31:53808001]
xref: ICD9CM:368.62
xref: SNOMEDCT_2010_1_31:53808001
xref: UMLS_CUI:C0152202
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:115
name: cardiac tamponade
def: "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch." [url:http\://en.wikipedia.org/wiki/Cardiac_tamponade, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000194.htm]
synonym: "pericardial tamponade" EXACT []
synonym: "Rose's tamponade" EXACT [CSP2005:1393-3373]
xref: ICD9CM:423.3
xref: MSH:D002305
xref: NCI:C50481
xref: SNOMEDCT_2010_1_31:155341007
xref: SNOMEDCT_2010_1_31:194975004
xref: SNOMEDCT_2010_1_31:266295005
xref: SNOMEDCT_2010_1_31:35304003
xref: UMLS_CUI:C0007177
is_a: DOID:118 ! pericardial effusion

[Term]
id: DOID:1150
name: bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium
alt_id: DOID:11173
alt_id: DOID:1149
alt_id: DOID:1292
synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, antepartum" EXACT []
synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, postpartum" EXACT []
synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, with delivery" EXACT []
synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum" EXACT [ICD9CM_2006:648.73]
synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum" EXACT [ICD9CM_2006:648.74]
synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery" EXACT [ICD9CM_2006:648.71]
xref: ICD9CM:648.7
xref: UMLS_CUI:C0156872
is_obsolete: true

[Term]
id: DOID:11502
name: mitral valve insufficiency
alt_id: DOID:11737
alt_id: DOID:13947
synonym: "Congenital insufficiency of mitral valve (disorder)" EXACT [SNOMEDCT_2005_07_31:29928006]
synonym: "congenital mitral insufficiency" EXACT [SNOMEDCT_2005_07_31:233857005]
synonym: "congenital mitral regurgitation" EXACT []
synonym: "mitral regurgitation" EXACT [CSP2005:1393-3923]
synonym: "Mitral valve incompetence" EXACT [SNOMEDCT_2005_07_31:194977007]
xref: ICD9CM:746.6
xref: MSH:D008944
xref: NCI:C50852
xref: NCI:C50888
xref: SNOMEDCT_2010_1_31:194736003
xref: SNOMEDCT_2010_1_31:194977007
xref: SNOMEDCT_2010_1_31:233857005
xref: SNOMEDCT_2010_1_31:29928006
xref: SNOMEDCT_2010_1_31:48724000
xref: SNOMEDCT_2010_1_31:59464004
xref: UMLS_CUI:C0026266
xref: UMLS_CUI:C0158619
xref: UMLS_CUI:C0264774
is_a: DOID:61 ! mitral valve disease

[Term]
id: DOID:11503
name: diabetic autonomic neuropathy
synonym: "Diabetic autonomic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:50620007]
xref: MSH:D003929
xref: NCI:C27068
xref: SNOMEDCT_2010_1_31:50620007
xref: UMLS_CUI:C0271686
is_a: DOID:11504 ! autonomic neuropathy
is_a: DOID:9743 ! diabetic neuropathy

[Term]
id: DOID:11504
name: autonomic neuropathy
xref: CSP:2042-2001
xref: CSP:2049-9000
xref: NCI:C27033
xref: SNOMEDCT_2010_1_31:277879009
xref: UMLS_CUI:C0259749
is_a: DOID:11465 ! autonomic nervous system disease

[Term]
id: DOID:11506
name: suppurative otitis media
def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false]
synonym: "Otitis media with effusion - purulent" EXACT [SNOMEDCT_2005_07_31:194258000]
synonym: "Otitis media with effusion - purulent" EXACT [SNOMEDCT_2005_07_31:38394007]
synonym: "Purulent otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:39288006]
synonym: "Purulent otitis media NOS" EXACT [MTHICD9_2006:382.4]
synonym: "Purulent otitis media NOS" EXACT [SNOMEDCT_2005_07_31:155229002]
synonym: "Purulent otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194285007]
synonym: "Suppurative and unspecified otitis media" EXACT [ICD9CM_2006:382]
synonym: "Suppurative and unspecified otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:194280002]
synonym: "Suppurative otitis med." EXACT [SNOMEDCT_2005_07_31:267758003]
synonym: "Suppurative otitis media" EXACT [MTH:NOCODE]
synonym: "Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media" EXACT [SNOMEDCT_2005_07_31:155225008]
synonym: "Unspecified suppurative otitis media" EXACT [ICD9CM_2006:382.4]
xref: ICD9CM:382
xref: ICD9CM:382.4
xref: MSH:D010035
xref: SNOMEDCT_2010_1_31:155229002
xref: SNOMEDCT_2010_1_31:194258000
xref: SNOMEDCT_2010_1_31:194280002
xref: SNOMEDCT_2010_1_31:194285007
xref: SNOMEDCT_2010_1_31:267758003
xref: SNOMEDCT_2010_1_31:38394007
xref: SNOMEDCT_2010_1_31:39288006
xref: UMLS_CUI:C0029888
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:11507
name: rumination disorder
def: "An eating disorder that is characterized by effortless regurgitation of most meals following consumption." [url:http\://en.wikipedia.org/wiki/Rumination_syndrome]
synonym: "Psychogenic rumination (disorder)" EXACT [SNOMEDCT_2005_07_31:192014006]
xref: ICD9CM:307.53
xref: MSH:D019959
xref: SNOMEDCT_2010_1_31:192014006
xref: SNOMEDCT_2010_1_31:37941009
xref: UMLS_CUI:C0154575
is_a: DOID:8670 ! eating disorder

[Term]
id: DOID:11512
name: hepatic vein thrombosis
synonym: "Budd-Chiari syndrome" EXACT [ICD9CM_2006:453.0]
xref: MSH:D006502
xref: SNOMEDCT_2010_1_31:195436007
xref: SNOMEDCT_2010_1_31:38739001
xref: UMLS_CUI:C0019154
is_a: DOID:272 ! hepatic vascular disease

[Term]
id: DOID:11514
name: fissured tongue
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Congenital fissure of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:3803006]
synonym: "Congenital plicated tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:204631004]
synonym: "Fissure of tongue" EXACT [SNOMEDCT_2005_07_31:204627005]
synonym: "Fissure of tongue, congenital" EXACT [ICD9CM_2006:750.13]
synonym: "Furrowed tongue" EXACT [MTHICD9_2006:529.5]
synonym: "GEOGRAPHIC TONGUE AND FISSURED TONGUE" EXACT []
synonym: "lingua plicata" EXACT []
synonym: "Plicated tongue" EXACT [ICD9CM_2006:529.5]
synonym: "Plicated tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:52368004]
synonym: "scrotal tongue" EXACT []
synonym: "Tongue, Fissured" EXACT []
xref: ICD9CM:529.5
xref: MSH:D014063
xref: OMIM:137400
xref: SNOMEDCT_2010_1_31:204627005
xref: SNOMEDCT_2010_1_31:52368004
xref: UMLS_CUI:C0040412
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:11516
name: hypertensive heart disease
def: "A heart disease that is caused by high blood presure." [url:http\://en.wikipedia.org/wiki/Heart_disease, url:http\://en.wikipedia.org/wiki/Hypertensive_heart_disease]
xref: ICD9CM:402
xref: ICD9CM:402.9
xref: SNOMEDCT_2010_1_31:155297007
xref: SNOMEDCT_2010_1_31:194769003
xref: SNOMEDCT_2010_1_31:194772005
xref: SNOMEDCT_2010_1_31:64715009
xref: UMLS_CUI:C0152105
is_a: DOID:10763 ! hypertension
is_a: DOID:114 ! heart disease

[Term]
id: DOID:11518
name: abnormal pupillary function
xref: ICD9CM:379.49
xref: UMLS_CUI:C0155376
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:11520
name: benign hypertensive renal disease
synonym: "benign hypertensive renal disease (disorder)" EXACT [SNOMEDCT_2005_07_31:193003]
synonym: "hypertensive renal disease, benign" EXACT [ICD9CM_2006:403.1]
synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [ICD9CM_2006:403.10]
xref: ICD9CM:403.1
xref: ICD9CM:403.10
xref: SNOMEDCT_2010_1_31:193003
xref: UMLS_CUI:C0155596
is_a: DOID:1073 ! renal hypertension

[Term]
id: DOID:11523
name: Clostridium perfringens gastroenteritis
def: "A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm, url:http\://www.merck.com/mmpe/sec14/ch178/ch178g.html]
subset: gram-positive_bacterial_infectious_disease
synonym: "Clostridium perfringens food poisoning" EXACT [SNOMEDCT_2005_07_31:186111000]
synonym: "Food poisoning due to C. welchii" EXACT [MTHICD9_2006:005.2]
synonym: "food poisoning due to clostridium perfringens" EXACT []
synonym: "Food poisoning due to Clostridium perfringens (disorder)" EXACT [SNOMEDCT_2005_07_31:70014009]
synonym: "Food poisoning due to Clostridium perfringens [C. welchii]" EXACT [ICD9CM_2006:005.2]
xref: ICD9CM:005.2
xref: SNOMEDCT_2010_1_31:186111000
xref: SNOMEDCT_2010_1_31:70014009
xref: UMLS_CUI:C0275590
is_obsolete: true

[Term]
id: DOID:11524
name: Hyphema of iris and ciliary body
xref: ICD9CM:364.41
xref: UMLS_CUI:C0020582
is_obsolete: true

[Term]
id: DOID:11525
name: Iris and ciliary body vascular disorder
synonym: "vascular disorder of iris and ciliary body" EXACT [ICD9CM_2006:364.4]
xref: ICD9CM:364.4
xref: SNOMEDCT_2010_1_31:193501009
xref: SNOMEDCT_2010_1_31:193503007
xref: SNOMEDCT_2010_1_31:8065004
xref: UMLS_CUI:C0154915
is_obsolete: true

[Term]
id: DOID:11527
name: laryngostenosis
synonym: "Stenosis of larynx" EXACT [ICD9CM_2006:478.74]
synonym: "Stenosis of larynx" EXACT [SNOMEDCT_2005_07_31:195864007]
synonym: "Stenosis of larynx (disorder)" EXACT [SNOMEDCT_2005_07_31:75547007]
xref: ICD9CM:478.74
xref: MSH:D007829
xref: NCI:C79608
xref: SNOMEDCT_2010_1_31:195864007
xref: SNOMEDCT_2010_1_31:75547007
xref: UMLS_CUI:C0023075
is_a: DOID:786 ! laryngeal disease

[Term]
id: DOID:11533
name: hereditary sensory and autonomic neuropathy
synonym: "Hereditary sensory and autonomic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:128205005]
xref: MSH:D009477
xref: SNOMEDCT_2010_1_31:128205005
xref: UMLS_CUI:C0027889
is_obsolete: true

[Term]
id: DOID:11535
name: dysplasia of prostate
xref: ICD9CM:602.3
xref: UMLS_CUI:C0949136
is_obsolete: true

[Term]
id: DOID:11541
name: recurrent corneal erosion
synonym: "recurrent erosion of cornea" EXACT [ICD9CM_2006:371.42]
synonym: "recurrent erosion syndrome" EXACT [SNOMEDCT_2005_07_31:2055003]
xref: ICD9CM:371.42
xref: SNOMEDCT_2010_1_31:155157003
xref: SNOMEDCT_2010_1_31:2055003
xref: SNOMEDCT_2010_1_31:267732003
xref: UMLS_CUI:C0155119
is_a: DOID:1237 ! corneal degeneration

[Term]
id: DOID:11543
name: corneal abscess
synonym: "Corneal abscess" EXACT [NCI2004_11_17:C26969]
synonym: "Corneal abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:64366002]
xref: ICD9CM:370.55
xref: NCI:C26969
xref: SNOMEDCT_2010_1_31:64366002
xref: UMLS_CUI:C0155091
is_a: DOID:9858 ! deep keratitis

[Term]
id: DOID:11547
name: corneal deposit
synonym: "Corneal deposit (disorder)" EXACT [SNOMEDCT_2005_07_31:74460005]
synonym: "Corneal deposit, unspecified" EXACT [ICD9CM_2006:371.10]
synonym: "Deposits - cornea" EXACT [SNOMEDCT_2005_07_31:193803001]
synonym: "Unspecified corneal deposit (disorder)" EXACT [SNOMEDCT_2005_07_31:193804007]
xref: ICD9CM:371.10
xref: SNOMEDCT_2010_1_31:193803001
xref: SNOMEDCT_2010_1_31:193804007
xref: SNOMEDCT_2010_1_31:74460005
xref: UMLS_CUI:C0162281
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:11549
name: Adie syndrome
def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." [url:http\://en.wikipedia.org/wiki/Adie_syndrome, url:http\://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Adie's pupil or syndrome" EXACT [MTHICD9_2006:379.46]
synonym: "Adie's pupil syndrome" EXACT [SNOMEDCT_2005_07_31:24225004]
synonym: "Adie's syndrome" EXACT []
synonym: "Holmes-Adie syndrome" EXACT [NCI2004_11_17:C34357]
xref: ICD10CM:H57.0
xref: ICD9CM:379.46
xref: MSH:D000270
xref: NCI:C34357
xref: OMIM:103100
xref: SNOMEDCT_2010_1_31:123051004
xref: SNOMEDCT_2010_1_31:24225004
xref: UMLS_CUI:C0001519
is_a: DOID:225 ! syndrome

[Term]
id: DOID:11550
name: oculomotor nerve paralysis
synonym: "III nerve palsy" EXACT [SNOMEDCT_2005_07_31:12900003]
synonym: "III nerve palsy" EXACT [SNOMEDCT_2005_07_31:388980004]
synonym: "IIIrd nerve Paralysis" EXACT [NCI2004_11_17:C27597]
synonym: "Third cranial nerve paralysis, NOS" EXACT [SNOMEDCT_2005_07_31:30764004]
xref: MSH:D015840
xref: NCI:C27597
xref: SNOMEDCT_2010_1_31:12900003
xref: SNOMEDCT_2010_1_31:30764004
xref: SNOMEDCT_2010_1_31:388980004
xref: UMLS_CUI:C0028866
is_a: DOID:562 ! third cranial nerve disease

[Term]
id: DOID:11552
name: Bowman's membrane folds or rupture
synonym: "Bowman membrane folds or rupture" EXACT []
xref: ICD9CM:371.31
xref: SNOMEDCT_2010_1_31:193820002
xref: SNOMEDCT_2010_1_31:45382000
xref: UMLS_CUI:C0155115
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:11554
name: Chandler syndrome
synonym: "Chandler syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:392481002]
synonym: "Chandler's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:404632009]
synonym: "Dystrophy of corneal endothelium" EXACT [SNOMEDCT_2005_07_31:416960004]
synonym: "Endothelial corneal dystrophy" EXACT [ICD9CM_2006:371.57]
synonym: "Endothelial corneal dystrophy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:16949007]
synonym: "Posterior membrane corneal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:231935005]
xref: ICD9CM:371.57
xref: MSH:D057129
xref: SNOMEDCT_2010_1_31:16949007
xref: SNOMEDCT_2010_1_31:231935005
xref: SNOMEDCT_2010_1_31:392481002
xref: SNOMEDCT_2010_1_31:404632009
xref: SNOMEDCT_2010_1_31:416960004
xref: UMLS_CUI:C0544008
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:11555
name: Fuchs' endothelial dystrophy
def: "A corneal dystrophy characterized_by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision." [url:http\://en.wikipedia.org/wiki/Fuchs%27_dystrophy, url:http\://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy, url:http\://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1, url:http\://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956]
comment: Xref MGI.
synonym: "FCED" EXACT []
synonym: "Fuchs' corneal dystrophy" EXACT [SNOMEDCT_2005_07_31:393581005]
synonym: "Fuchs' endothelial corneal dystrophy" EXACT [SNOMEDCT_2005_07_31:193839007]
xref: EFO:0003946
xref: ICD10CM:H18.5
xref: ICD9CM:371.57
xref: MSH:D005642
xref: NCI:C84721
xref: OMIM:136800
xref: OMIM:610158
xref: OMIM:613267
xref: OMIM:613268
xref: OMIM:613269
xref: OMIM:613270
xref: OMIM:613271
xref: OMIM:615523
xref: ORDO:98974
xref: SNOMEDCT_2010_1_31:16949007
xref: SNOMEDCT_2010_1_31:193839007
xref: SNOMEDCT_2010_1_31:393581005
xref: UMLS_CUI:C0016781
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:11557
name: acute serous otitis media
def: "A acute transudative otitis media with thin, watery and sterile effusion." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
synonym: "acute non-suppurative otitis media - serous (disorder)" EXACT [SNOMEDCT_2005_07_31:194240006]
synonym: "acute serous otitis media (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:11957006]
xref: ICD9CM:381.01
xref: SNOMEDCT_2010_1_31:11957006
xref: SNOMEDCT_2010_1_31:194240006
xref: UMLS_CUI:C0155415
is_a: DOID:3697 ! acute transudative otitis media

[Term]
id: DOID:11558
name: acute allergic serous otitis media
def: "A acute serous otitis media caused by an allergen." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306]
synonym: "acute allergic serous otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:59275002]
xref: ICD9CM:381.04
xref: SNOMEDCT_2010_1_31:194241005
xref: SNOMEDCT_2010_1_31:59275002
xref: UMLS_CUI:C0155418
is_a: DOID:11557 ! acute serous otitis media

[Term]
id: DOID:1156
name: pseudogout
alt_id: DOID:11303
alt_id: DOID:1155
alt_id: DOID:12090
alt_id: DOID:12102
alt_id: DOID:12945
alt_id: DOID:13298
alt_id: DOID:13299
alt_id: DOID:13301
alt_id: DOID:13302
alt_id: DOID:13303
alt_id: DOID:13304
alt_id: DOID:14143
alt_id: DOID:14220
alt_id: DOID:14513
alt_id: DOID:1834
alt_id: DOID:1945
alt_id: DOID:2486
def: "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint." [url:http\://en.wikipedia.org/wiki/Chondrocalcinosis, url:http\://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx, url:http\://www.mayoclinic.com/health/pseudogout/DS00717, url:http\://www.merckmanuals.com/professional/sec04/ch035/ch035c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000421.htm, url:http\://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp]
synonym: "calcium pyrophosphate deposition disease" EXACT []
synonym: "chondrocalcinosis" EXACT []
xref: MSH:D002805
xref: NCI:C34955
xref: SNOMEDCT_2010_1_31:156881000
xref: SNOMEDCT_2010_1_31:201624004
xref: SNOMEDCT_2010_1_31:201625003
xref: SNOMEDCT_2010_1_31:201636005
xref: SNOMEDCT_2010_1_31:239834007
xref: SNOMEDCT_2010_1_31:268142006
xref: SNOMEDCT_2010_1_31:60782007
xref: UMLS_CUI:C0033802
xref: UMLS_CUI:C0157852
is_a: DOID:1222 ! cartilage disease
is_a: DOID:848 ! arthritis

[Term]
id: DOID:11561
name: hypertensive retinopathy
xref: ICD9CM:362.11
xref: MSH:D058437
xref: NCI:C3514
xref: SNOMEDCT_2010_1_31:155108001
xref: SNOMEDCT_2010_1_31:193356005
xref: SNOMEDCT_2010_1_31:193358006
xref: SNOMEDCT_2010_1_31:6962006
xref: UMLS_CUI:C0152132
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:11563
name: retinal vasculitis
synonym: "Retinal vasculitis" EXACT [ICD9CM_2006:362.18]
synonym: "Retinal vasculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:77628002]
synonym: "Retinal vasculitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193367006]
xref: ICD9CM:362.18
xref: MSH:D031300
xref: SNOMEDCT_2010_1_31:193367006
xref: SNOMEDCT_2010_1_31:77628002
xref: UMLS_CUI:C0152026
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:11569
name: neurocirculatory asthenia
def: "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities." [url:http\://en.wikipedia.org/wiki/Da_Costa%27s_syndrome, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/]
synonym: "Cardiovascular malfunction arising from mental factors" EXACT [ICD9CM_2006:306.2]
synonym: "Cardiovascular neurosis" EXACT [MTHICD9_2006:306.2]
synonym: "Da Costa's syndrome" EXACT [SNOMEDCT_2005_07_31:46219009]
synonym: "Krishaber's disease" EXACT [SNOMEDCT_2005_07_31:72994002]
xref: ICD9CM:306.2
xref: MSH:D009449
xref: SNOMEDCT_2010_1_31:154922007
xref: SNOMEDCT_2010_1_31:191960008
xref: SNOMEDCT_2010_1_31:191961007
xref: SNOMEDCT_2010_1_31:191962000
xref: SNOMEDCT_2010_1_31:191963005
xref: SNOMEDCT_2010_1_31:192434000
xref: SNOMEDCT_2010_1_31:46219009
xref: SNOMEDCT_2010_1_31:72994002
xref: UMLS_CUI:C0027821
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:11572
name: Listeria meningitis
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
xref: MSH:D008584
xref: SNOMEDCT_2010_1_31:230151007
xref: SNOMEDCT_2010_1_31:31568009
xref: UMLS_CUI:C0025293
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:11573
name: listeriosis
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." [url:http\://emedicine.medscape.com/article/965841-overview#a0104, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001380.htm]
subset: gram-positive_bacterial_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Infection by Listeria monocytogenes" EXACT [MTHICD9_2006:027.0]
synonym: "Infection due to Listeria monocytogenes (disorder)" EXACT [SNOMEDCT_2005_07_31:406591006]
synonym: "Listeria infection" EXACT [CSP2005:0368-3200]
synonym: "Listeriosis (disorder)" EXACT [SNOMEDCT_2005_07_31:4241002]
synonym: "Listeriosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186320001]
synonym: "Listeriosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187320005]
xref: ICD9CM:027.0
xref: MSH:D008088
xref: NCI:C82994
xref: SNOMEDCT_2010_1_31:186315001
xref: SNOMEDCT_2010_1_31:186320001
xref: SNOMEDCT_2010_1_31:187320005
xref: SNOMEDCT_2010_1_31:406591006
xref: SNOMEDCT_2010_1_31:4241002
xref: UMLS_CUI:C0023860
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11574
name: streptococcal meningitis
synonym: "Streptococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:4510004]
xref: ICD9CM:320.2
xref: SNOMEDCT_2010_1_31:4510004
xref: UMLS_CUI:C0154639
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:11575
name: pneumococcal meningitis
subset: gram-positive_bacterial_infectious_disease
synonym: "Pneumococcal meningitis" EXACT [ICD9CM_2006:320.1]
synonym: "Pneumococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:51169003]
xref: ICD9CM:320.1
xref: MSH:D008586
xref: SNOMEDCT_2010_1_31:51169003
xref: UMLS_CUI:C0025295
is_obsolete: true

[Term]
id: DOID:11577
name: Cauda equina syndrome
def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." [url:http\://en.wikipedia.org/wiki/Cauda_equina_syndrome]
xref: ICD10CM:G83.4
xref: ICD9CM:344.6
xref: MSH:D011128
xref: NCI:C35436
xref: SNOMEDCT_2010_1_31:155032006
xref: SNOMEDCT_2010_1_31:192970008
xref: SNOMEDCT_2010_1_31:192972000
xref: SNOMEDCT_2010_1_31:192973005
xref: SNOMEDCT_2010_1_31:89356000
xref: UMLS_CUI:C0392548
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:11578
name: Escherichia coli meningitis
subset: gram-negative_bacterial_infectious_disease
synonym: "Escherichia coli meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192655005]
synonym: "Meningitis due to E. coli" EXACT [MTHICD9_2006:320.82]
xref: MSH:D020814
xref: SNOMEDCT_2010_1_31:192655005
xref: UMLS_CUI:C0338395
is_obsolete: true

[Term]
id: DOID:11581
name: phlyctenulosis
synonym: "Phlyctenular keratoconjunctivitis" EXACT [ICD9CM_2006:370.31]
synonym: "Phlyctenular keratoconjunctivitis" EXACT [SNOMEDCT_2005_07_31:193773009]
synonym: "Strumous ophthalmia" EXACT [SNOMEDCT_2005_07_31:67895005]
xref: ICD9CM:370.31
xref: SNOMEDCT_2010_1_31:193773009
xref: SNOMEDCT_2010_1_31:67895005
xref: UMLS_CUI:C0155080
is_a: DOID:9368 ! keratoconjunctivitis

[Term]
id: DOID:11582
name: syphilitic aortitis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic aortitis" EXACT [ICD9CM_2006:093.1]
synonym: "Syphilitic aortitis" EXACT [SNOMEDCT_2005_07_31:186872001]
synonym: "Syphilitic aortitis (disorder)" EXACT [SNOMEDCT_2005_07_31:20735004]
xref: ICD9CM:093.1
xref: MSH:D013589
xref: SNOMEDCT_2010_1_31:186872001
xref: SNOMEDCT_2010_1_31:20735004
xref: UMLS_CUI:C0003511
is_obsolete: true

[Term]
id: DOID:11584
name: acute schizophrenic episode in remission
xref: ICD9CM:295.45
xref: UMLS_CUI:C0154364
is_obsolete: true

[Term]
id: DOID:11589
name: Riley-Day syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "familial autonomic nervous dysfunction" EXACT [CSP2005:0725-5371]
synonym: "familial dysautonomia" EXACT [SNOMEDCT_2005_07_31:204087006]
synonym: "HSAN III" EXACT [SNOMEDCT_2005_07_31:29159009]
xref: MSH:D004402
xref: NCI:C84706
xref: OMIM:223900
xref: SNOMEDCT_2010_1_31:204087006
xref: SNOMEDCT_2010_1_31:29159009
xref: UMLS_CUI:C0013364
is_a: DOID:0050548 ! hereditary sensory neuropathy

[Term]
id: DOID:1159
name: functional gastric disease
xref: ICD9CM:536.8
xref: UMLS_CUI:C0013396
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:11593
name: bladder lateral wall cancer
synonym: "Lateral Wall of bladder" EXACT [NCI2004_11_17:C12333]
synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [ICD9CM_2006:188.2]
synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [SNOMEDCT_2005_07_31:93863000]
synonym: "malignant neoplasm of lateral wall of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188241004]
xref: ICD9CM:188.2
xref: NCI:C12333
xref: SNOMEDCT_2010_1_31:188241004
xref: SNOMEDCT_2010_1_31:93863000
xref: UMLS_CUI:C0496828
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11594
name: ring staphyloma
synonym: "Ring staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:5299007]
xref: ICD9CM:379.15
xref: SNOMEDCT_2010_1_31:5299007
xref: UMLS_CUI:C0155363
is_a: DOID:11595 ! scleral staphyloma

[Term]
id: DOID:11595
name: scleral staphyloma
synonym: "Scleral ectasia" EXACT [ICD9CM_2006:379.11]
synonym: "Scleral staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:111534007]
xref: ICD9CM:379.11
xref: SNOMEDCT_2010_1_31:111534007
xref: UMLS_CUI:C0155359
is_a: DOID:11343 ! scleral disease

[Term]
id: DOID:11597
name: cold injury syndrome of newborn
synonym: "Cold injury syndrome of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:26746005]
xref: ICD9CM:778.2
xref: SNOMEDCT_2010_1_31:26746005
xref: UMLS_CUI:C0159011
is_obsolete: true

[Term]
id: DOID:11599
name: Frey Syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Baillarger Syndrome" EXACT []
synonym: "Gustatory hyperhidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:238758008]
synonym: "gustatory sweating" EXACT []
synonym: "Gustatory sweating (finding)" EXACT [SNOMEDCT_2005_07_31:56046002]
xref: MSH:D013547
xref: OMIM:144100
xref: SNOMEDCT_2010_1_31:238758008
xref: SNOMEDCT_2010_1_31:56046002
xref: UMLS_CUI:C0038994
is_a: DOID:11465 ! autonomic nervous system disease

[Term]
id: DOID:116
name: pericardium cancer
alt_id: DOID:5780
synonym: "malignant neoplasm of pericardium" EXACT []
synonym: "malignant tumor of Pericardium" EXACT [NCI2004_11_17:C4567]
synonym: "Pericardial tumor" EXACT [NCI2004_11_17:C4651]
xref: NCI:C4567
xref: SNOMEDCT_2010_1_31:126734005
xref: SNOMEDCT_2010_1_31:187884007
xref: SNOMEDCT_2010_1_31:93957005
xref: SNOMEDCT_2010_1_31:94997003
xref: UMLS_CUI:C0346609
xref: UMLS_CUI:C0349574
is_a: DOID:117 ! heart cancer

[Term]
id: DOID:11600
name: secondary malignant neoplasm of lymph nodes of multiple site
synonym: "secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)" EXACT [SNOMEDCT_2005_07_31:190144001]
synonym: "secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188430004]
synonym: "secondary and unspecified malignant neoplasm of lymph nodes of multiple sites" EXACT [ICD9CM_2006:196.8]
synonym: "secondary malignant neoplasm of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:94396003]
xref: ICD9CM:196.8
xref: SNOMEDCT_2010_1_31:188430004
xref: SNOMEDCT_2010_1_31:190144001
xref: SNOMEDCT_2010_1_31:94396003
xref: UMLS_CUI:C0348382
is_obsolete: true

[Term]
id: DOID:11603
name: infant gynecomastia
synonym: "breast engorgement in newborn" EXACT [ICD9CM_2006:778.7]
synonym: "breast engorgement in newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:34831003]
synonym: "Neonatal gynaecomastia" EXACT [SNOMEDCT_2005_07_31:157159001]
xref: ICD9CM:778.7
xref: MSH:D006177
xref: SNOMEDCT_2010_1_31:157159001
xref: SNOMEDCT_2010_1_31:34831003
xref: UMLS_CUI:C1449721
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:11604
name: idiopathic hydrops fetalis
synonym: "Hydrops fetalis not due to isoimmunization" EXACT [ICD9CM_2006:778.0]
synonym: "Idiopathic hydrops fetalis (disorder)" EXACT [SNOMEDCT_2005_07_31:206538000]
synonym: "Idiopathic hydrops fetalis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:59928009]
synonym: "Non-immune hydrops fetalis" EXACT [SNOMEDCT_2005_07_31:206551005]
synonym: "Non-immune hydrops fetalis (disorder)" EXACT [SNOMEDCT_2005_07_31:276509008]
synonym: "Perinatal skin prob. NOS" EXACT [SNOMEDCT_2005_07_31:157160006]
synonym: "Perinatal skin prob. NOS" EXACT [SNOMEDCT_2005_07_31:268886003]
xref: ICD9CM:778.0
xref: MSH:C531708
xref: MSH:D015160
xref: OMIM:236750
xref: OMIM:MTHU002168
xref: OMIM:MTHU002593
xref: OMIM:MTHU009834
xref: SNOMEDCT_2010_1_31:157160006
xref: SNOMEDCT_2010_1_31:206538000
xref: SNOMEDCT_2010_1_31:206551005
xref: SNOMEDCT_2010_1_31:268886003
xref: SNOMEDCT_2010_1_31:276509008
xref: SNOMEDCT_2010_1_31:59928009
xref: UMLS_CUI:C0455988
is_obsolete: true

[Term]
id: DOID:11606
name: ileal disease
xref: MSH:D007077
xref: UMLS_CUI:C0020875
is_obsolete: true

[Term]
id: DOID:11607
name: candidal meningitis
def: "A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf]
synonym: "Candida meningitis" EXACT []
synonym: "Candidal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:45021001]
xref: ICD9CM:112.83
xref: SNOMEDCT_2010_1_31:45021001
xref: UMLS_CUI:C0153256
is_obsolete: true

[Term]
id: DOID:11608
name: fungal meningitis
synonym: "Fungal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:24321005]
xref: MSH:D016921
xref: SNOMEDCT_2010_1_31:24321005
xref: UMLS_CUI:C0085438
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:11612
name: polycystic ovary syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Multicystic ovaries" EXACT [SNOMEDCT_2005_07_31:190549002]
synonym: "Multicystic ovaries" EXACT [SNOMEDCT_2005_07_31:237792009]
synonym: "PCOS" EXACT [CSP2005:2587-6155]
synonym: "Polycystic Ovarian disease" EXACT [NCI2004_11_17:C27086]
synonym: "Polycystic ovaries" EXACT [ICD9CM_2006:256.4]
synonym: "Polycystic ovaries (disorder)" EXACT [SNOMEDCT_2005_07_31:69878008]
synonym: "polycystic ovary" EXACT [CSP2005:2587-6111]
synonym: "Polycystic ovary syndrome" EXACT [SNOMEDCT_2005_07_31:237055002]
synonym: "Stein-Leventhal synd." EXACT [SNOMEDCT_2005_07_31:154714009]
synonym: "Stein-Leventhal synd." EXACT [SNOMEDCT_2005_07_31:271199009]
synonym: "Stein-Leventhal syndrome" EXACT [MTHICD9_2006:256.4]
synonym: "Stein-Leventhal syndrome" EXACT [NCI2004_11_17:C26862]
xref: EFO:0000660
xref: ICD9CM:256.4
xref: MSH:D011085
xref: NCI:C26862
xref: OMIM:184700
xref: SNOMEDCT_2010_1_31:154714009
xref: SNOMEDCT_2010_1_31:190549002
xref: SNOMEDCT_2010_1_31:237055002
xref: SNOMEDCT_2010_1_31:237792009
xref: SNOMEDCT_2010_1_31:271199009
xref: SNOMEDCT_2010_1_31:69878008
xref: UMLS_CUI:C0032460
is_a: DOID:225 ! syndrome

[Term]
id: DOID:11613
name: hyperandrogenism
synonym: "hyperandrogenization syndrome" EXACT [SNOMEDCT_2005_07_31:237793004]
xref: MSH:D017588
xref: SNOMEDCT_2010_1_31:237793004
xref: UMLS_CUI:C0206081
is_a: DOID:1923 ! sex differentiation disease

[Term]
id: DOID:11615
name: penile cancer
alt_id: DOID:11614
subset: TopNodes_DOcancerslim
synonym: "Ca penis" EXACT [SNOMEDCT_2005_07_31:154536009]
synonym: "Ca penis (disorder)" EXACT [SNOMEDCT_2005_07_31:269605006]
synonym: "malignant neoplasm of body of penis" EXACT []
synonym: "malignant neoplasm of penis, part unspecified" EXACT [ICD9CM_2006:187.4]
synonym: "malignant neoplasm of penis, part unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:188231002]
synonym: "malignant Penile tumor" EXACT [NCI2004_11_17:C7547]
synonym: "malignant tumor of body of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:188230001]
synonym: "malignant tumor of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:363516004]
synonym: "Penile Ca" EXACT [SNOMEDCT_2005_07_31:93954003]
xref: ICD9CM:187.3
xref: SNOMEDCT_2010_1_31:154536009
xref: SNOMEDCT_2010_1_31:188230001
xref: SNOMEDCT_2010_1_31:188231002
xref: SNOMEDCT_2010_1_31:269605006
xref: SNOMEDCT_2010_1_31:363516004
xref: SNOMEDCT_2010_1_31:93716006
xref: SNOMEDCT_2010_1_31:93954003
xref: UMLS_CUI:C0153600
xref: UMLS_CUI:C0153601
is_a: DOID:3856 ! male reproductive organ cancer

[Term]
id: DOID:11623
name: dental pulp necrosis
synonym: "necrosis of the pulp" EXACT [ICD9CM_2006:522.1]
synonym: "necrosis of the pulp NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196334004]
synonym: "necrotic pulp" EXACT [SNOMEDCT_2005_07_31:42711005]
synonym: "pulp necrosis" EXACT [SNOMEDCT_2005_07_31:196332000]
xref: ICD9CM:522.1
xref: MSH:D003790
xref: SNOMEDCT_2010_1_31:196332000
xref: SNOMEDCT_2010_1_31:196334004
xref: SNOMEDCT_2010_1_31:42711005
xref: UMLS_CUI:C0011407
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:11624
name: penile neoplasm
synonym: "neoplasm of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:126896003]
synonym: "Penile tumor" EXACT [NCI2004_11_17:C3317]
xref: MSH:D010412
xref: NCI:C3317
xref: SNOMEDCT_2010_1_31:126896003
xref: UMLS_CUI:C0030849
is_a: DOID:0060087 ! male reproductive organ benign neoplasm

[Term]
id: DOID:11629
name: pelvic muscle wasting
xref: ICD9CM:618.83
xref: UMLS_CUI:C1456255
is_a: DOID:1284 ! prolapse of female genital organ

[Term]
id: DOID:11633
name: thyroid hormone resistance syndrome
comment: OMIM mapping confirmed by DO. [LS].
synonym: "Generalized thyroid hormone resistance (disorder)" EXACT [SNOMEDCT_2005_07_31:237560005]
synonym: "Refetoff syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:111567006]
synonym: "thyroid hormone resistance" EXACT [CSP2005:2928-9974]
synonym: "thyroid hormone resistance" EXACT [CSP2005:4008-0047]
synonym: "Thyroid hormone resistance syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:237559000]
synonym: "Thyroid hormone responsiveness defect (disorder)" EXACT [SNOMEDCT_2005_07_31:50375007]
xref: NCI:C85191
xref: OMIM:188570
xref: OMIM:274300
xref: SNOMEDCT_2010_1_31:111567006
xref: SNOMEDCT_2010_1_31:237559000
xref: SNOMEDCT_2010_1_31:237560005
xref: SNOMEDCT_2010_1_31:50375007
xref: UMLS_CUI:C0242604
is_a: DOID:1459 ! hypothyroidism

[Term]
id: DOID:11634
name: myxedema
comment: OMIM mapping confirmed by DO. [SN].
synonym: "MYXEDEMA" EXACT [MTH:NOCODE]
synonym: "Myxedema (disorder)" EXACT [SNOMEDCT_2005_07_31:43153006]
synonym: "myxoedema" EXACT [CSP2005:2928-6930]
synonym: "Myxoedema" EXACT [SNOMEDCT_2005_07_31:154660000]
synonym: "Myxoedema" EXACT [SNOMEDCT_2005_07_31:190274003]
synonym: "Myxoedema" EXACT [SNOMEDCT_2005_07_31:267465007]
xref: MSH:D009230
xref: NCI:C34834
xref: OMIM:255900
xref: SNOMEDCT_2010_1_31:154660000
xref: SNOMEDCT_2010_1_31:190274003
xref: SNOMEDCT_2010_1_31:267465007
xref: SNOMEDCT_2010_1_31:43153006
xref: UMLS_CUI:C0027145
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:3141 ! mucinoses

[Term]
id: DOID:11637
name: accommodative spasm
synonym: "Spasm of accommodation" EXACT [ICD9CM_2006:367.53]
synonym: "Spasm of accommodation (disorder)" EXACT [SNOMEDCT_2005_07_31:30069002]
xref: ICD9CM:367.53
xref: SNOMEDCT_2010_1_31:30069002
xref: UMLS_CUI:C0152196
is_a: DOID:10034 ! eye accommodation disease

[Term]
id: DOID:11638
name: presbyopia
synonym: "Presbyopia (disorder)" EXACT [SNOMEDCT_2005_07_31:41256004]
xref: ICD9CM:367.4
xref: MSH:D011305
xref: SNOMEDCT_2010_1_31:155135005
xref: SNOMEDCT_2010_1_31:41256004
xref: UMLS_CUI:C0033075
is_a: DOID:10034 ! eye accommodation disease
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11649
name: transitory tachypnea of newborn
synonym: "Idiopathic tachypnea of newborn" EXACT [MTHICD9_2006:770.6]
synonym: "Transitory tachypnea of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:7550008]
xref: ICD9CM:770.6
xref: SNOMEDCT_2010_1_31:7550008
xref: UMLS_CUI:C0158940
is_obsolete: true

[Term]
id: DOID:11650
name: bronchopulmonary dysplasia
alt_id: DOID:11651
synonym: "Bronchopulmonary dysplasia of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:67569000]
synonym: "neonatal chronic respiratory disease" EXACT []
synonym: "Perinatal bronchopulmonary dysplasia" EXACT [MTHICD9_2006:770.7]
xref: MSH:D001997
xref: SNOMEDCT_2010_1_31:67569000
xref: UMLS_CUI:C0006287
is_obsolete: true

[Term]
id: DOID:11653
name: conjunctival deposit
synonym: "Conjunctival deposit (disorder)" EXACT [SNOMEDCT_2005_07_31:62660000]
synonym: "Conjunctival deposits" EXACT [ICD9CM_2006:372.56]
xref: ICD9CM:372.56
xref: SNOMEDCT_2010_1_31:62660000
xref: UMLS_CUI:C0162280
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:11654
name: nevus of ota
synonym: "Naevus fuscocerulophthalmomaxillaris" EXACT [SNOMEDCT_2005_07_31:414929001]
synonym: "Naevus fusoceruleus ophthalmomaxillaris" EXACT [SNOMEDCT_2005_07_31:254817005]
synonym: "nevus of Ota (disorder)" EXACT [SNOMEDCT_2005_07_31:254212008]
synonym: "Oculocutaneous melanocytic nevus" EXACT [NCI2004_11_17:C7583]
synonym: "Oculodermal malanocytosis" EXACT [SNOMEDCT_2005_07_31:27486008]
synonym: "primary acquired melanosis" EXACT [SNOMEDCT_2005_07_31:415172002]
synonym: "primary acquired melanosis of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:415173007]
xref: MSH:D009507
xref: NCI:C7583
xref: SNOMEDCT_2010_1_31:254212008
xref: SNOMEDCT_2010_1_31:254817005
xref: SNOMEDCT_2010_1_31:27486008
xref: SNOMEDCT_2010_1_31:414929001
xref: SNOMEDCT_2010_1_31:415172002
xref: SNOMEDCT_2010_1_31:415173007
xref: UMLS_CUI:C0027961
is_obsolete: true

[Term]
id: DOID:11656
name: cicatricial pemphigoid
alt_id: DOID:11655
def: "A bullous skin disease characterized_by skin lesions and scaring and located_in mucous membranes and located_in skin." [url:http\://en.wikipedia.org/wiki/Cicatricial_pemphigoid, url:http\://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html]
synonym: "benign mucous membrane pemphigoid" EXACT []
synonym: "benign mucous membrane pemphigoid with ocular involvement" EXACT [ICD9CM_2006:694.61]
synonym: "Cicatricial pemphigoid with ocular involvement" EXACT [SNOMEDCT_2005_07_31:76092003]
synonym: "Ocular pemphigoid" EXACT [SNOMEDCT_2005_07_31:193905009, SNOMEDCT_2005_07_31:194590009, SNOMEDCT_2005_07_31:200914001, SNOMEDCT_2005_07_31:34250006]
synonym: "ocular pemphigus" EXACT []
xref: ICD10CM:L12.1
xref: ICD9CM:694.6
xref: MSH:D010390
xref: NCI:C34907
xref: SNOMEDCT_2010_1_31:193905009
xref: SNOMEDCT_2010_1_31:194590009
xref: SNOMEDCT_2010_1_31:200913007
xref: SNOMEDCT_2010_1_31:200914001
xref: SNOMEDCT_2010_1_31:200915000
xref: SNOMEDCT_2010_1_31:34250006
xref: SNOMEDCT_2010_1_31:76092003
xref: UMLS_CUI:C0030804
xref: UMLS_CUI:C0157721
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:8502 ! bullous skin disease

[Term]
id: DOID:1166
name: palindromic rheumatism
alt_id: DOID:1165
alt_id: DOID:1177
alt_id: DOID:1178
alt_id: DOID:1179
alt_id: DOID:12951
alt_id: DOID:13354
alt_id: DOID:13355
alt_id: DOID:13771
def: "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms." [url:http\://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, url:http\://en.wikipedia.org/wiki/Palindromic_rheumatism, url:http\://www.palindromicrheumatism.org/]
synonym: "Hench's syndrome" EXACT []
synonym: "Hench-Rosenberg syndrome" EXACT []
xref: ICD10CM:M12.3
xref: ICD9CM:719.3
xref: ICD9CM:719.30
xref: MSH:C538103
xref: SNOMEDCT_2010_1_31:202455001
xref: SNOMEDCT_2010_1_31:202456000
xref: SNOMEDCT_2010_1_31:202457009
xref: SNOMEDCT_2010_1_31:202466008
xref: SNOMEDCT_2010_1_31:50442003
xref: UMLS_CUI:C0085574
xref: UMLS_CUI:C0158178
is_a: DOID:225 ! syndrome

[Term]
id: DOID:11661
name: blue color blindness
def: "A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function." [url:http\://www.ncbi.nlm.nih.gov/pubmed/2788922, url:http\://www.omim.org/entry/190900, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Tritan defect" EXACT [ICD9CM_2006:368.53]
synonym: "Tritanopia" EXACT [MTHICD9_2006:368.53]
xref: ICD9CM:368.53
xref: MSH:C536238
xref: MSH:C538165
xref: MSH:D003117
xref: OMIM:190900
xref: SNOMEDCT_2010_1_31:51886007
xref: SNOMEDCT_2010_1_31:85049009
xref: UMLS_CUI:C0155017
is_a: DOID:13399 ! color blindness

[Term]
id: DOID:11662
name: color vision defect
xref: MSH:D003117
xref: OMIM:MTHU006100
xref: UMLS_CUI:C0009398
is_obsolete: true

[Term]
id: DOID:11664
name: nephrosclerosis
synonym: "renal sclerosis" EXACT [CSP2005:4003-0020]
xref: ICD9CM:587
xref: MSH:D009400
xref: SNOMEDCT_2010_1_31:194773000
xref: SNOMEDCT_2010_1_31:197658002
xref: SNOMEDCT_2010_1_31:197662008
xref: SNOMEDCT_2010_1_31:32916005
xref: UMLS_CUI:C0027719
is_a: DOID:1073 ! renal hypertension

[Term]
id: DOID:11665
name: Patau syndrome
comment: OMIM mapping confirmed by DO. [LS].
synonym: "D1 Trisomy " EXACT [NCI2004_11_17:C36529]
synonym: "Patau's syndrome" RELATED [ICD9CM_2006:758.1]
synonym: "trisomy 13" EXACT []
xref: ICD9CM:758.1
xref: MSH:C536305
xref: NCI:C36529
xref: SNOMEDCT_2010_1_31:156995003
xref: SNOMEDCT_2010_1_31:157021007
xref: SNOMEDCT_2010_1_31:205622008
xref: SNOMEDCT_2010_1_31:21111006
xref: SNOMEDCT_2010_1_31:254267009
xref: SNOMEDCT_2010_1_31:268344000
xref: SNOMEDCT_2010_1_31:268357008
xref: UMLS_CUI:C0152095
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:11668
name: hypopigmentation of eyelid
synonym: "Hypopigmentation of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:68210006]
synonym: "Hypopigmentation of eyelid [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193958004]
xref: ICD9CM:374.53
xref: SNOMEDCT_2010_1_31:193958004
xref: SNOMEDCT_2010_1_31:68210006
xref: UMLS_CUI:C0155212
is_a: DOID:10120 ! eyelid degenerative disease
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:11669
name: hypertrichosis of eyelid
synonym: "hypertrichosis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:79830009]
xref: ICD9CM:374.54
xref: SNOMEDCT_2010_1_31:79830009
xref: UMLS_CUI:C0155213
is_a: DOID:10120 ! eyelid degenerative disease
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:11671
name: hypotrichosis of eyelid
synonym: "Hypotrichosis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:70738004]
synonym: "Hypotrichosis of eyelid [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193959007]
xref: ICD9CM:374.55
xref: SNOMEDCT_2010_1_31:193959007
xref: SNOMEDCT_2010_1_31:70738004
xref: UMLS_CUI:C0155214
is_a: DOID:10120 ! eyelid degenerative disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:11678
name: onchocerciasis
def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm]
synonym: "Infection by Onchocerca volvulus (disorder)" EXACT [SNOMEDCT_2005_07_31:38539003]
synonym: "Onchocerca volvulus infection" EXACT [MTHICD9_2006:125.3]
synonym: "volvulosis" EXACT [CSP2005:2214-3590]
xref: ICD9CM:125.3
xref: MSH:D009855
xref: NCI:C34861
xref: SNOMEDCT_2010_1_31:38539003
xref: UMLS_CUI:C0029001
is_a: DOID:1080 ! filariasis

[Term]
id: DOID:1168
name: familial hyperlipidemia
alt_id: DOID:3147
synonym: "familial hyperlipoproteinemia" EXACT []
synonym: "hyperlipemia" EXACT [CSP2005:1744-2444]
synonym: "hyperlipidaemia" RELATED [SNOMEDCT_2005_07_31:154739000]
xref: MSH:D006949
xref: MSH:D006951
xref: NCI:C34707
xref: NCI:C34709
xref: SNOMEDCT_2010_1_31:154739000
xref: SNOMEDCT_2010_1_31:154743001
xref: SNOMEDCT_2010_1_31:190782002
xref: SNOMEDCT_2010_1_31:267499005
xref: SNOMEDCT_2010_1_31:3744001
xref: SNOMEDCT_2010_1_31:55822004
xref: UMLS_CUI:C0020473
xref: UMLS_CUI:C0020476
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:11680
name: ocular onchocerciasis
def: "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." [url:http\://en.wikipedia.org/wiki/Onchocerciasis]
synonym: "Ocular Onchocerciasis" EXACT [NCI2004_11_17:C34862]
synonym: "Ocular onchocerciasis (disorder)" EXACT [SNOMEDCT_2005_07_31:240842000]
synonym: "river blindness" EXACT [CSP2005:2214-3590]
xref: MSH:D015827
xref: NCI:C34862
xref: SNOMEDCT_2010_1_31:240842000
xref: UMLS_CUI:C0029002
is_obsolete: true

[Term]
id: DOID:11683
name: glaucoma associated with systemic syndromes
synonym: "Glaucoma associated with systemic syndromes (disorder)" EXACT [SNOMEDCT_2005_07_31:53667005]
xref: ICD9CM:365.44
xref: SNOMEDCT_2010_1_31:53667005
xref: UMLS_CUI:C0154956
is_obsolete: true

[Term]
id: DOID:11684
name: melanoacanthoma
synonym: "Melanoacanthoma (disorder)" EXACT [SNOMEDCT_2005_07_31:394727000]
xref: NCI:C27548
xref: SNOMEDCT_2010_1_31:201096007
xref: SNOMEDCT_2010_1_31:394727000
xref: UMLS_CUI:C1321683
is_a: DOID:6498 ! seborrheic keratosis

[Term]
id: DOID:11685
name: inflamed seborrheic keratosis
xref: ICD9CM:702.11
xref: SNOMEDCT_2010_1_31:442348004
xref: UMLS_CUI:C0376117
is_a: DOID:6498 ! seborrheic keratosis

[Term]
id: DOID:11693
name: acute apical periodontitis
synonym: "acute apical periodontitis of pulpal origin" EXACT [ICD9CM_2006:522.4]
synonym: "acute apical periodontitis of pulpal origin (disorder)" EXACT [SNOMEDCT_2005_07_31:88071000]
xref: ICD9CM:522.4
xref: SNOMEDCT_2010_1_31:109605000
xref: SNOMEDCT_2010_1_31:196338001
xref: SNOMEDCT_2010_1_31:88071000
xref: UMLS_CUI:C0155934
is_a: DOID:823 ! periapical periodontitis

[Term]
id: DOID:11695
name: portal vein thrombosis
def: "A vein disease that is characterized by a blood clot that forms within the hepatic portal vein." [url:http\://en.wikipedia.org/wiki/Portal_vein_thrombosis]
xref: ICD9CM:452
xref: NCI:C78565
xref: SNOMEDCT_2010_1_31:155455003
xref: SNOMEDCT_2010_1_31:17920008
xref: UMLS_CUI:C0155773
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:866 ! vein disease

[Term]
id: DOID:11696
name: chronic hypomanic disorder
synonym: "chronic hypomanic personality disorder" EXACT [ICD9CM_2006:301.11]
xref: ICD9CM:301.11
xref: SNOMEDCT_2010_1_31:442245003
xref: UMLS_CUI:C0154459
is_obsolete: true

[Term]
id: DOID:11699
name: intrathoracic lymph node tuberculosis
def: "A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe." [url:http\://ep.bmjjournals.com/cgi/reprint/91/1/ep1]
subset: gram-positive_bacterial_infectious_disease
synonym: "Tuberculosis of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:78436002]
synonym: "Tuberculosis of intrathoracic lymph nodes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186187009]
synonym: "Tuberculosis of intrathoracic lymph nodes, unspecified examination" EXACT [ICD9CM_2006:012.10]
xref: ICD9CM:012.1
xref: ICD9CM:012.10
xref: SNOMEDCT_2010_1_31:186187009
xref: SNOMEDCT_2010_1_31:78436002
xref: UMLS_CUI:C0152627
is_obsolete: true

[Term]
id: DOID:117
name: heart cancer
alt_id: DOID:9918
def: "A cardiovascular cancer located_in the heart." [url:http\://en.wikipedia.org/wiki/Heart_cancer]
synonym: "Cardiac tumor" EXACT [NCI2004_11_17:C3081]
synonym: "malignant Cardiac tumor" EXACT [NCI2004_11_17:C3548]
synonym: "malignant neoplasm of heart" EXACT []
synonym: "Tumour of heart" EXACT [SNOMEDCT_2005_07_31:126730001]
xref: MSH:D006338
xref: NCI:C3081
xref: SNOMEDCT_2010_1_31:126730001
xref: SNOMEDCT_2010_1_31:154555009
xref: SNOMEDCT_2010_1_31:187886009
xref: SNOMEDCT_2010_1_31:269615000
xref: SNOMEDCT_2010_1_31:363435002
xref: SNOMEDCT_2010_1_31:387842002
xref: SNOMEDCT_2010_1_31:93825008
xref: UMLS_CUI:C0018809
xref: UMLS_CUI:C0153500
is_a: DOID:176 ! cardiovascular cancer

[Term]
id: DOID:11701
name: selective IgA deficiency disease
def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." [url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency]
synonym: "Immunoglobulin A deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:29260007]
synonym: "Selective IgA immunodeficiency" EXACT [ICD9CM_2006:279.01]
synonym: "Selective IgA Immunodeficiency" EXACT [NCI2004_11_17:C26964]
synonym: "Selective immunoglobulin A deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:190979003]
xref: MSH:D017098
xref: SNOMEDCT_2010_1_31:190979003
xref: SNOMEDCT_2010_1_31:29260007
xref: UMLS_CUI:C0162538
is_a: DOID:11702 ! dysgammaglobulinemia

[Term]
id: DOID:11702
name: dysgammaglobulinemia
def: "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins." [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia]
synonym: "Dysgammaglobulinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:123782009]
synonym: "Dysgammaglobulinemia (finding)" EXACT [SNOMEDCT_2005_07_31:127389001]
xref: MSH:D004406
xref: SNOMEDCT_2010_1_31:123782009
xref: SNOMEDCT_2010_1_31:127389001
xref: UMLS_CUI:C0013374
is_a: DOID:6025 ! selective immunoglobulin deficiency disease

[Term]
id: DOID:11705
name: impaired renal function disease
xref: ICD9CM:588.8
xref: ICD9CM:588.89
xref: UMLS_CUI:C0029791
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:1171
name: hyperlipoproteinemia type V
comment: OMIM mapping confirmed by DO. [SN].
synonym: "familial hyperlipoproteinemia type V" EXACT [CSP2005:1849-4520]
synonym: "familial type 5 hyperlipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:34349009]
synonym: "Fredrickson type V lipaemia" EXACT [SNOMEDCT_2005_07_31:190781009]
xref: MSH:C538379
xref: MSH:D006954
xref: OMIM:144650
xref: SNOMEDCT_2010_1_31:190781009
xref: SNOMEDCT_2010_1_31:34349009
xref: UMLS_CUI:C0020481
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:11711
name: Pregnancy in Diabetics
synonym: "Diabetes in Pregnancy" EXACT [NCI2004_11_17:C34942]
synonym: "Diabetes mellitus, antepartum" EXACT [ICD9CM_2006:648.03]
synonym: "pregnancy diabetes" EXACT [CSP2005:0862-6650]
xref: ICD9CM:648.03
xref: MSH:D011254
xref: UMLS_CUI:C0032969
is_obsolete: true

[Term]
id: DOID:11712
name: lipoatrophic diabetes
def: "A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." [url:http\://en.wikipedia.org/wiki/Lipoatrophic_diabetes]
xref: MSH:C538560
xref: MSH:D003923
xref: NCI:C34537
xref: SNOMEDCT_2010_1_31:127012008
xref: SNOMEDCT_2010_1_31:408543001
xref: SNOMEDCT_2010_1_31:71325002
xref: UMLS_CUI:C0011859
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:11713
name: diabetic angiopathy
synonym: "Diabetic vascular disorder" EXACT [NCI2004_11_17:C35610]
xref: MSH:D003925
xref: NCI:C35610
xref: UMLS_CUI:C0011875
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:11714
name: gestational diabetes
synonym: "GDM" EXACT [CSP2005:0862-6650]
synonym: "Gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:199232003]
synonym: "Gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:237629002]
synonym: "Gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:393568003]
synonym: "Maternal gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:11687002]
synonym: "Maternal gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:359964007]
xref: EFO:0004593
xref: MSH:D016640
xref: NCI:C34942
xref: SNOMEDCT_2010_1_31:11687002
xref: SNOMEDCT_2010_1_31:199232003
xref: SNOMEDCT_2010_1_31:237629002
xref: SNOMEDCT_2010_1_31:359964007
xref: SNOMEDCT_2010_1_31:393568003
xref: UMLS_CUI:C0085207
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:11716
name: prediabetes syndrome
synonym: "Prediabetes" EXACT [SNOMEDCT_2005_07_31:15777000]
synonym: "Prediabetes" EXACT [SNOMEDCT_2005_07_31:9414007]
synonym: "prediabetic state" EXACT [CSP2005:0862-7400]
xref: MSH:D011236
xref: SNOMEDCT_2010_1_31:15777000
xref: SNOMEDCT_2010_1_31:9414007
xref: UMLS_CUI:C0362046
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:11717
name: neonatal diabetes mellitus
synonym: "diabetes mellitus syndrome in newborn infant" EXACT []
xref: ICD9CM:775.1
xref: SNOMEDCT_2010_1_31:49817004
xref: UMLS_CUI:C0158981
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:11718
name: antidepressant type abuse
def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Antidepressant]
xref: ICD9CM:305.8
xref: UMLS_CUI:C0154540
is_a: DOID:302 ! substance abuse

[Term]
id: DOID:11719
name: oculopharyngeal muscular dystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Muscular dystrophy, oculopharyngeal" EXACT [MTHICD9_2006:359.1]
synonym: "Oculopharyngeal muscular dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:77097004]
xref: MSH:D039141
xref: NCI:C84942
xref: OMIM:164300
xref: SNOMEDCT_2010_1_31:77097004
xref: UMLS_CUI:C0270952
is_a: DOID:929 ! myopathy of extraocular muscle
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:1172
name: hyperlipoproteinemia type IV
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Endogenous hyperlipidaemia" EXACT [SNOMEDCT_2005_07_31:129589009]
synonym: "Fredrickson type IV hyperlipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:238085009]
synonym: "Fredrickson type IV lipidaemia" EXACT [SNOMEDCT_2005_07_31:190779007]
synonym: "Fredrickson type IV Lipidemia" EXACT [NCI2004_11_17:C34711]
synonym: "VLDL hyperlipoproteinemia" EXACT [MTHICD9_2006:272.1]
xref: ICD9CM:272.1
xref: MSH:D006953
xref: NCI:C34711
xref: OMIM:144600
xref: SNOMEDCT_2010_1_31:129589009
xref: SNOMEDCT_2010_1_31:154741004
xref: SNOMEDCT_2010_1_31:190779007
xref: SNOMEDCT_2010_1_31:238085009
xref: SNOMEDCT_2010_1_31:267433009
xref: SNOMEDCT_2010_1_31:34528009
xref: UMLS_CUI:C0020480
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:11720
name: distal muscular dystrophy
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "distal myopathy" EXACT []
synonym: "Miyoshi muscular dystrophy" EXACT []
xref: MSH:D049310
xref: NCI:C84675
xref: OMIM:160300
xref: OMIM:160500
xref: OMIM:254130
xref: OMIM:606768
xref: OMIM:607569
xref: OMIM:610099
xref: OMIM:613318
xref: OMIM:613319
xref: OMIM:614065
xref: OMIM:614321
xref: ORDO:399086
xref: ORDO:399096
xref: ORDO:5448
xref: ORDO:59135
xref: ORDO:63273
xref: SNOMEDCT_2010_1_31:58795000
xref: UMLS_CUI:C0751336
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11721
name: glycogen storage disease VII
comment: OMIM mapping confirmed by DO. [SN].
synonym: "glycogen storage disease type VII" EXACT []
synonym: "Glycogen storage disease, type VII (disorder)" EXACT [SNOMEDCT_2005_07_31:89597008]
synonym: "Muscle phosphofructokinase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:234406005]
synonym: "phosphofructokinase myopathy" EXACT [CSP2005:1849-4121]
xref: MSH:D006014
xref: OMIM:232800
xref: SNOMEDCT_2010_1_31:234406005
xref: SNOMEDCT_2010_1_31:89597008
xref: UMLS_CUI:C0017926
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:11722
name: myotonic dystrophy type 1
def: "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region." [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/160900, url:http\://www.genome.gov/25521207, url:http\://www.ncbi.nlm.nih.gov/books/NBK1165/]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "congenital myotonic dystrophy" EXACT []
synonym: "Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:267713009]
synonym: "myotonic dystrophy of Steinert" EXACT []
synonym: "Steinert disease" EXACT []
xref: ICD9CM:359.22
xref: MSH:D009223
xref: NCI:C84914
xref: OMIM:160900
xref: SNOMEDCT_2010_1_31:155096007
xref: SNOMEDCT_2010_1_31:267713009
xref: SNOMEDCT_2010_1_31:77956009
xref: UMLS_CUI:C0027126
is_a: DOID:450 ! myotonic disease

[Term]
id: DOID:11723
name: Duchenne muscular dystrophy
def: "A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy." [url:http\://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, url:http\://omim.org/entry/300377, url:http\://www.genome.gov/19518854]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Muscular dystrophy, Duchenne" EXACT [MTHICD9_2006:359.1]
xref: ICD10CM:G71.0
xref: ICD9CM:359.1
xref: MSH:D020388
xref: NCI:C75482
xref: OMIM:310200
xref: SNOMEDCT_2010_1_31:129619006
xref: SNOMEDCT_2010_1_31:155095006
xref: SNOMEDCT_2010_1_31:267712004
xref: SNOMEDCT_2010_1_31:387732009
xref: SNOMEDCT_2010_1_31:76670001
xref: UMLS_CUI:C0013264
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11724
name: limb-girdle muscular dystrophy
def: "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles." [url:http\://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1408/]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Erb's muscular dystrophy" EXACT []
synonym: "Leyden-Mbius muscular dystrophy" EXACT [SNOMEDCT_2005_07_31:93153005]
synonym: "limb girdle muscular dystrophy" EXACT [CSP2005:1849-6662]
xref: ICD10CM:G71.0
xref: ICD9CM:359.1
xref: MSH:D049288
xref: NCI:C84828
xref: OMIM:159000
xref: OMIM:159001
xref: OMIM:253600
xref: OMIM:253601
xref: OMIM:253700
xref: OMIM:254110
xref: OMIM:601287
xref: OMIM:601954
xref: OMIM:603511
xref: OMIM:604286
xref: OMIM:607155
xref: OMIM:607801
xref: OMIM:608099
xref: OMIM:608423
xref: OMIM:608807
xref: OMIM:609115
xref: OMIM:609308
xref: OMIM:611307
xref: OMIM:611588
xref: OMIM:613157
xref: OMIM:613158
xref: OMIM:613530
xref: OMIM:613723
xref: OMIM:613818
xref: OMIM:615325
xref: OMIM:615352
xref: OMIM:615356
xref: ORDO:263
xref: SNOMEDCT_2010_1_31:56096001
xref: SNOMEDCT_2010_1_31:93153005
xref: UMLS_CUI:C0686353
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11725
name: Cornelia de Lange syndrome
def: "A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features." [url:http\://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome, url:http\://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, url:http\://www.omim.org/entry/122470, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "Brachmann de Lange syndrome" EXACT [CSP2005:2403-8925]
synonym: "De Lange syndrome" EXACT []
xref: ICD10CM:Q78.1
xref: MSH:C536441
xref: MSH:D003635
xref: NCI:C75016
xref: OMIM:122470
xref: OMIM:300590
xref: OMIM:300882
xref: OMIM:610759
xref: OMIM:614701
xref: ORDO:199
xref: SNOMEDCT_2010_1_31:40354009
xref: UMLS_CUI:C0270972
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:11726
name: Emery-Dreifuss muscular dystrophy
def: "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle." [url:http\://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "EDMD" EXACT []
xref: ICD10CM:G71.0
xref: MSH:D020389
xref: NCI:C84685
xref: OMIM:181350
xref: OMIM:300696
xref: OMIM:310300
xref: OMIM:612998
xref: OMIM:612999
xref: OMIM:614302
xref: ORDO:261
xref: ORDO:98853
xref: ORDO:98855
xref: ORDO:98863
xref: SNOMEDCT_2010_1_31:111508004
xref: SNOMEDCT_2010_1_31:129620000
xref: SNOMEDCT_2010_1_31:193233004
xref: UMLS_CUI:C0410189
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11727
name: facioscapulohumeral muscular dystrophy
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Landouzy Dejerine muscular dystrophy" EXACT [CSP2005:1849-6662]
synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [SNOMEDCT_2005_07_31:399091004]
synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [SNOMEDCT_2005_07_31:56096001]
synonym: "Muscular dystrophy, Landouzy-Dejerine" EXACT [MTHICD9_2006:359.1]
xref: MSH:D020391
xref: NCI:C84704
xref: OMIM:158900
xref: SNOMEDCT_2010_1_31:399091004
xref: SNOMEDCT_2010_1_31:56096001
xref: UMLS_CUI:C0238288
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11729
name: Lyme disease
alt_id: DOID:12233
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system." [url:http\://www.cdc.gov/lyme/transmission/index.html]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Bannwarth syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:48982009]
synonym: "Bannworth's syndrome" EXACT [SNOMEDCT_2005_07_31:23502006]
synonym: "Lyme borreliosis" EXACT [CSP2005:0368-3340]
synonym: "lyme neuroborreliosis" EXACT []
synonym: "neuroborreliosis" EXACT []
synonym: "Neurological Lyme disease" EXACT [SNOMEDCT_2005_07_31:240672009]
xref: ICD9CM:088.81
xref: MSH:D008193
xref: NCI:C45161
xref: SNOMEDCT_2010_1_31:154376000
xref: SNOMEDCT_2010_1_31:23502006
xref: SNOMEDCT_2010_1_31:240672009
xref: SNOMEDCT_2010_1_31:48982009
xref: UMLS_CUI:C0024198
xref: UMLS_CUI:C0752235
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:1173
name: polycystic liver disease
synonym: "(Congenital cystic liver disease) or (congenital hepatic cyst)" EXACT [SNOMEDCT_2005_07_31:204784005]
synonym: "Congenital cystic disease of liver" EXACT [ICD9CM_2006:751.62]
synonym: "Congenital cystic disease of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:72925005]
synonym: "Congenital cystic liver disease (disorder)" EXACT [SNOMEDCT_2005_07_31:268214000]
synonym: "Congenital cystic liver disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204786007]
synonym: "Fibrocystic disease of liver" EXACT [MTHICD9_2006:751.62]
synonym: "Fibrocystic liver disease" EXACT [SNOMEDCT_2005_07_31:204785006]
xref: ICD9CM:751.62
xref: MSH:C536330
xref: NCI:C82833
xref: OMIM:174050
xref: OMIM:MTHU014343
xref: SNOMEDCT_2010_1_31:204784005
xref: SNOMEDCT_2010_1_31:204785006
xref: SNOMEDCT_2010_1_31:204786007
xref: SNOMEDCT_2010_1_31:268214000
xref: SNOMEDCT_2010_1_31:72925005
xref: UMLS_CUI:C0158683
is_obsolete: true

[Term]
id: DOID:11730
name: Borrelia infectious disease
subset: gram-negative_bacterial_infectious_disease
synonym: "borreliosis" EXACT [CSP2005:0368-3338]
synonym: "Borreliosis (disorder)" EXACT [SNOMEDCT_2005_07_31:240668005]
synonym: "Borreliosis, NOS" EXACT [SNOMEDCT_2005_07_31:46107006]
xref: MSH:D001899
xref: SNOMEDCT_2010_1_31:240668005
xref: SNOMEDCT_2010_1_31:46107006
xref: UMLS_CUI:C0006035
is_obsolete: true

[Term]
id: DOID:11732
name: syphilitic myocarditis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:4082005]
xref: ICD9CM:093.82
xref: SNOMEDCT_2010_1_31:186881007
xref: SNOMEDCT_2010_1_31:4082005
xref: UMLS_CUI:C0153165
is_obsolete: true

[Term]
id: DOID:11733
name: syphilitic aortic aneurysm
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Aneurysm of aorta, specified as syphilitic" EXACT [ICD9CM_2006:093.0]
synonym: "Syphilitic aneurysm of aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:12232008]
xref: ICD9CM:093.0
xref: SNOMEDCT_2010_1_31:12232008
xref: SNOMEDCT_2010_1_31:186871008
xref: UMLS_CUI:C0275844
is_obsolete: true

[Term]
id: DOID:11734
name: syphilitic pericarditis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:3589003]
xref: ICD9CM:093.81
xref: SNOMEDCT_2010_1_31:3589003
xref: UMLS_CUI:C0153164
is_obsolete: true

[Term]
id: DOID:11735
name: single manic episode in full remission
synonym: "Manic disorder, single episode, in full remission" EXACT [ICD9CM_2006:296.06]
synonym: "Single manic episode in full remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191588009]
xref: ICD9CM:296.06
xref: SNOMEDCT_2010_1_31:191588009
xref: UMLS_CUI:C0338844
is_obsolete: true

[Term]
id: DOID:11736
name: odontoclasia
synonym: "Odontoclasia (disorder)" EXACT [SNOMEDCT_2005_07_31:196305005]
xref: ICD9CM:521.05
xref: SNOMEDCT_2010_1_31:196305005
xref: UMLS_CUI:C0341004
is_a: DOID:216 ! dental caries

[Term]
id: DOID:11741
name: Chlamydophila pneumoniae pneumonia
def: "A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress." [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm, url:http\://www.merck.com/mmpe/sec19/ch279/ch279l.html]
subset: gram-negative_bacterial_infectious_disease
synonym: "Chlamydial pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:233609002]
synonym: "Pneumonia due to Chlamydia" EXACT [ICD9CM_2006:483.1]
xref: ICD9CM:483.1
xref: SNOMEDCT_2010_1_31:195897008
xref: SNOMEDCT_2010_1_31:233609002
xref: UMLS_CUI:C0339959
is_obsolete: true

[Term]
id: DOID:11746
name: parametrium malignant neoplasm
xref: ICD9CM:183.4
xref: SNOMEDCT_2010_1_31:188203006
xref: SNOMEDCT_2010_1_31:93942003
xref: UMLS_CUI:C0153581
is_a: DOID:11747 ! uterine adnexa cancer

[Term]
id: DOID:11747
name: uterine adnexa cancer
alt_id: DOID:9596
xref: ICD9CM:183
xref: SNOMEDCT_2010_1_31:154527005
xref: SNOMEDCT_2010_1_31:188201008
xref: SNOMEDCT_2010_1_31:188206003
xref: SNOMEDCT_2010_1_31:190123001
xref: SNOMEDCT_2010_1_31:269601002
xref: SNOMEDCT_2010_1_31:428322007
xref: SNOMEDCT_2010_1_31:94126000
xref: UMLS_CUI:C0153577
xref: UMLS_CUI:C0153584
is_a: DOID:363 ! uterine cancer

[Term]
id: DOID:11748
name: round ligament malignant neoplasm
synonym: "malignant neoplasm of round ligament (disorder)" EXACT [SNOMEDCT_2005_07_31:188204000]
synonym: "malignant neoplasm of round ligament of uterus" EXACT [ICD9CM_2006:183.5]
synonym: "malignant neoplasm of round ligament of uterus" EXACT [SNOMEDCT_2005_07_31:93994001]
xref: ICD9CM:183.5
xref: SNOMEDCT_2010_1_31:188204000
xref: SNOMEDCT_2010_1_31:93994001
xref: UMLS_CUI:C0346867
is_a: DOID:11747 ! uterine adnexa cancer
is_a: DOID:1725 ! peritoneum cancer

[Term]
id: DOID:11750
name: Bordetella parapertussis whooping cough
def: "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose ." [url:http\://en.wikipedia.org/wiki/Pertussis]
subset: gram-negative_bacterial_infectious_disease
xref: ICD9CM:033.1
xref: SNOMEDCT_2010_1_31:77116006
xref: UMLS_CUI:C0275742
is_a: DOID:1116 ! pertussis

[Term]
id: DOID:11752
name: acute endophthalmitis
synonym: "acute endophthalmitis (disorder)" EXACT [SNOMEDCT_2005_07_31:1493002]
xref: ICD9CM:360.01
xref: SNOMEDCT_2010_1_31:1493002
xref: SNOMEDCT_2010_1_31:193268004
xref: UMLS_CUI:C0154773
is_a: DOID:9724 ! purulent endophthalmitis

[Term]
id: DOID:11753
name: biliary calculus with acute cholecystitis
xref: ICD9CM:574.0
xref: SNOMEDCT_2010_1_31:59771005
xref: UMLS_CUI:C0156199
is_obsolete: true

[Term]
id: DOID:11754
name: siderosis of eye
synonym: "Siderosis of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:25277000]
synonym: "Siderosis of globe" EXACT [ICD9CM_2006:360.23]
xref: ICD9CM:360.23
xref: SNOMEDCT_2010_1_31:25277000
xref: UMLS_CUI:C0271001
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:11755
name: choledocholithiasis
xref: MSH:D042883
xref: SNOMEDCT_2010_1_31:197376000
xref: SNOMEDCT_2010_1_31:197397004
xref: SNOMEDCT_2010_1_31:49910001
xref: UMLS_CUI:C0701818
is_a: DOID:0000000 ! gallbladder disease
is_a: DOID:4137 ! common bile duct disease

[Term]
id: DOID:11756
name: calculus of bile duct with acute cholecystitis
alt_id: DOID:13666
synonym: "bile duct calculus with acute cholecystitis and obstruction" EXACT []
synonym: "bile duct calculus with acute cholecystitis and obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:197391003]
synonym: "bile duct calculus with acute cholecystitis and obstruction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197392005]
synonym: "calculus of bile duct with acute cholecystitis with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:43479009]
synonym: "calculus of bile duct with acute cholecystitis, with obstruction" EXACT [ICD9CM_2006:574.31]
xref: ICD9CM:574.3
xref: SNOMEDCT_2010_1_31:197389006
xref: SNOMEDCT_2010_1_31:82478007
xref: UMLS_CUI:C0156206
is_obsolete: true

[Term]
id: DOID:11758
name: iron deficiency anemia
xref: ICD9CM:280.8
xref: MSH:D018798
xref: SNOMEDCT_2010_1_31:191129007
xref: SNOMEDCT_2010_1_31:191131003
xref: SNOMEDCT_2010_1_31:267514001
xref: UMLS_CUI:C0029810
is_a: DOID:11252 ! microcytic anemia
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:11759
name: hypochromic anemia
synonym: "ANEMIA HYPOCHROMIC" EXACT [MTH:NOCODE]
xref: MSH:D000747
xref: NCI:C34380
xref: SNOMEDCT_2010_1_31:44452003
xref: UMLS_CUI:C0002884
is_a: DOID:2355 ! anemia

[Term]
id: DOID:1176
name: bronchial disease
alt_id: DOID:1175
alt_id: DOID:12322
def: "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11685087]
synonym: "bronchial disorder" EXACT [CSP2005:2596-0903]
synonym: "Bronchospasm" EXACT [NCI2004_11_17:C34439, SNOMEDCT_2005_07_31:140179000, SNOMEDCT_2005_07_31:196175000, SNOMEDCT_2005_07_31:269012003]
xref: MSH:D001982
xref: SNOMEDCT_2010_1_31:41427001
xref: UMLS_CUI:C0006261
is_a: DOID:0050161 ! lower respiratory tract disease

[Term]
id: DOID:11760
name: Kohler's disease
def: "An osteochondrosis that results_in death and collapse located_in navicular bone of foot." [url:http\://en.wikipedia.org/wiki/K%C3%B6hler_disease, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/k/kohlers_disease.aspx]
synonym: "Juvenile osteochondrosis of foot" EXACT [ICD9CM_2006:732.5]
synonym: "Kohler disease" EXACT []
xref: ICD9CM:732.5
xref: SNOMEDCT_2010_1_31:203392007
xref: SNOMEDCT_2010_1_31:203393002
xref: SNOMEDCT_2010_1_31:203397001
xref: SNOMEDCT_2010_1_31:32491009
xref: UMLS_CUI:C0158444
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:11766
name: blind hypotensive eye
synonym: "Blind hypotensive eye (disorder)" EXACT [SNOMEDCT_2005_07_31:23360000]
xref: ICD9CM:360.41
xref: SNOMEDCT_2010_1_31:193291000
xref: SNOMEDCT_2010_1_31:23360000
xref: SNOMEDCT_2010_1_31:4229009
xref: UMLS_CUI:C0154788
is_a: DOID:790 ! ocular hypotension
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:11770
name: hypersecretion of testicular hormones
synonym: "testicular hyperfunction" EXACT [ICD9CM_2006:257.0]
synonym: "testicular hyperfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:29206004]
xref: ICD9CM:257.0
xref: SNOMEDCT_2010_1_31:237803004
xref: SNOMEDCT_2010_1_31:29206004
xref: UMLS_CUI:C0154215
is_obsolete: true

[Term]
id: DOID:11771
name: spontaneous ocular nystagmus
synonym: "Ocular nystagmus" EXACT [SNOMEDCT_2005_07_31:39771000]
synonym: "Searching eye movements" EXACT [SNOMEDCT_2005_07_31:246784009]
synonym: "visual deprivation nystagmus" EXACT [ICD9CM_2006:379.53]
synonym: "visual deprivation nystagmus (disorder)" EXACT [SNOMEDCT_2005_07_31:45339001]
xref: ICD9CM:379.53
xref: MSH:D009759
xref: SNOMEDCT_2010_1_31:246784009
xref: SNOMEDCT_2010_1_31:39771000
xref: SNOMEDCT_2010_1_31:45339001
xref: UMLS_CUI:C0271384
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:11772
name: leukocoria
synonym: "Leucocoria" EXACT [ICD9CM_2006:360.44]
synonym: "Leukocoria (disorder)" EXACT [SNOMEDCT_2005_07_31:1361009]
xref: ICD9CM:360.44
xref: SNOMEDCT_2010_1_31:1361009
xref: SNOMEDCT_2010_1_31:193288000
xref: UMLS_CUI:C0152458
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:11775
name: hereditary trophedema
synonym: "Hereditary edema of legs" EXACT [ICD9CM_2006:757.0]
synonym: "Hereditary edema of legs [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:205542007]
synonym: "Hereditary edema of legs NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:205546005]
synonym: "Hereditary trophedema (disorder)" EXACT [SNOMEDCT_2005_07_31:205543002]
synonym: "Hereditary trophoedeme" EXACT [SNOMEDCT_2005_07_31:75127007]
xref: ICD9CM:757.0
xref: SNOMEDCT_2010_1_31:205542007
xref: SNOMEDCT_2010_1_31:205543002
xref: SNOMEDCT_2010_1_31:205546005
xref: SNOMEDCT_2010_1_31:75127007
xref: UMLS_CUI:C1313885
is_obsolete: true

[Term]
id: DOID:11776
name: blind hypertensive eye
synonym: "Blind hypertensive eye (disorder)" EXACT [SNOMEDCT_2005_07_31:264008]
xref: ICD9CM:360.42
xref: SNOMEDCT_2010_1_31:193286001
xref: SNOMEDCT_2010_1_31:264008
xref: UMLS_CUI:C0154789
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:11781
name: regular astigmatism
synonym: "Regular astigmatism (disorder)" EXACT [SNOMEDCT_2005_07_31:68905002]
xref: ICD9CM:367.21
xref: SNOMEDCT_2010_1_31:68905002
xref: UMLS_CUI:C0152193
is_a: DOID:11782 ! astigmatism

[Term]
id: DOID:11782
name: astigmatism
def: "A refractive error characterized_by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision." [url:http\://en.wikipedia.org/wiki/Astigmatism_%28eye%29]
comment: OMIM mapping confirmed by DO. [SN].
xref: CSP:1116-1831
xref: EFO:0004222
xref: HP:0000483
xref: ICD10CM:H52.2
xref: ICD9CM:367.2
xref: MSH:D001251
xref: OMIM:603047
xref: SNOMEDCT_2010_1_31:155134009
xref: SNOMEDCT_2010_1_31:193626006
xref: SNOMEDCT_2010_1_31:193627002
xref: SNOMEDCT_2010_1_31:82649003
xref: UMLS_CUI:C0004106
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11783
name: necrosis of ear ossicle
synonym: "partial loss or necrosis of ear ossicles" EXACT []
xref: ICD9CM:385.24
xref: UMLS_CUI:C0155488
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:11786
name: splenic sequestration
xref: ICD9CM:289.52
xref: UMLS_CUI:C1260402
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:11787
name: chronic congestive splenomegaly
synonym: "chronic congestive splenomegaly (disorder)" EXACT [SNOMEDCT_2005_07_31:191382009]
xref: ICD9CM:289.51
xref: SNOMEDCT_2010_1_31:191382009
xref: UMLS_CUI:C0398661
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:11793
name: phthisical cornea
synonym: "Phthisical cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:28143002]
xref: ICD9CM:371.05
xref: SNOMEDCT_2010_1_31:193801004
xref: SNOMEDCT_2010_1_31:28143002
xref: UMLS_CUI:C0155102
is_a: DOID:1237 ! corneal degeneration

[Term]
id: DOID:11797
name: chronic laryngitis
def: "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease." [url:http\://en.wikipedia.org/wiki/Laryngitis, url:http\://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263]
xref: ICD9CM:476.0
xref: NCI:C26975
xref: SNOMEDCT_2010_1_31:155535001
xref: SNOMEDCT_2010_1_31:195815004
xref: SNOMEDCT_2010_1_31:195816003
xref: SNOMEDCT_2010_1_31:29951006
xref: UMLS_CUI:C0155836
is_a: DOID:3437 ! laryngitis

[Term]
id: DOID:118
name: pericardial effusion
def: "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity." [url:http\://en.wikipedia.org/wiki/Pericardial_effusion]
xref: MSH:D010490
xref: NCI:C3319
xref: SNOMEDCT_2010_1_31:373945007
xref: SNOMEDCT_2010_1_31:70370001
xref: UMLS_CUI:C0031039
is_a: DOID:0050829 ! pericardium disease

[Term]
id: DOID:11801
name: protein-energy malnutrition
xref: ICD9CM:263.9
xref: MSH:D011502
xref: NCI:C34952
xref: SNOMEDCT_2010_1_31:190608007
xref: SNOMEDCT_2010_1_31:238105005
xref: SNOMEDCT_2010_1_31:238107002
xref: SNOMEDCT_2010_1_31:267411007
xref: SNOMEDCT_2010_1_31:272588001
xref: SNOMEDCT_2010_1_31:273491005
xref: SNOMEDCT_2010_1_31:72608005
xref: UMLS_CUI:C0033677
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:11802
name: protein deficiency
synonym: "protein deficiency" EXACT [CSP2005:2116-8149]
xref: MSH:D011488
xref: UMLS_CUI:C0033626
is_obsolete: true

[Term]
id: DOID:11806
name: macrodactylia of fingers
synonym: "Macrodactylia" EXACT [MTHICD9_2006:755.57]
synonym: "Macrodactylia (fingers)" EXACT [ICD9CM_2006:755.57]
synonym: "Macrodactylia of fingers (disorder)" EXACT [SNOMEDCT_2005_07_31:69381005]
xref: ICD9CM:755.57
xref: SNOMEDCT_2010_1_31:69381005
xref: UMLS_CUI:C0158763
is_obsolete: true

[Term]
id: DOID:11809
name: bladder neck cancer
synonym: "malignant neoplasm of urinary bladder neck" EXACT [SNOMEDCT_2005_07_31:94124002]
synonym: "malignant tumor of bladder neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188244007]
xref: ICD9CM:188.5
xref: SNOMEDCT_2010_1_31:188244007
xref: SNOMEDCT_2010_1_31:94124002
xref: UMLS_CUI:C0153613
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11810
name: metastatic neoplasm to the bladder
synonym: "metastatic tumor to the urinary bladder" EXACT [NCI2004_11_17:C7650]
synonym: "secondary malignant neoplasm of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:94186002]
xref: NCI:C7650
xref: SNOMEDCT_2010_1_31:94186002
xref: UMLS_CUI:C0347011
is_obsolete: true

[Term]
id: DOID:11811
name: urinary bladder posterior wall cancer
synonym: "malignant neoplasm of posterior wall of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188243001]
xref: ICD9CM:188.4
xref: SNOMEDCT_2010_1_31:188243001
xref: SNOMEDCT_2010_1_31:93972009
xref: UMLS_CUI:C0153612
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11812
name: bladder sarcoma
def: "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder." [url:http\://emedicine.medscape.com/article/438262-overview]
synonym: "sarcoma of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:278046008]
synonym: "sarcoma of the urinary bladder" EXACT [NCI2004_11_17:C4669]
xref: NCI:C4669
xref: SNOMEDCT_2010_1_31:278046008
xref: UMLS_CUI:C0349666
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11813
name: bladder trigone cancer
synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [ICD9CM_2006:188.0]
synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [SNOMEDCT_2005_07_31:94109006]
synonym: "malignant tumor of trigone of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:254931006]
synonym: "malignant tumor of trigone of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188239000]
xref: ICD9CM:188.0
xref: SNOMEDCT_2010_1_31:188239000
xref: SNOMEDCT_2010_1_31:254931006
xref: SNOMEDCT_2010_1_31:94109006
xref: UMLS_CUI:C0496826
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11814
name: urinary bladder anterior wall cancer
synonym: "malignant neoplasm of anterior wall of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188242006]
xref: ICD9CM:188.3
xref: SNOMEDCT_2010_1_31:188242006
xref: SNOMEDCT_2010_1_31:93675008
xref: UMLS_CUI:C0153611
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11815
name: recurrent malignant bladder neoplasm
xref: NCI:C9266
xref: UMLS_CUI:C0862326
is_obsolete: true

[Term]
id: DOID:11816
name: vitreous syneresis
synonym: "Vitreous degeneration" EXACT [ICD9CM_2006:379.21]
synonym: "Vitreous degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:60189009]
synonym: "Vitreous syneresis (finding)" EXACT [SNOMEDCT_2005_07_31:247090008]
xref: ICD9CM:379.21
xref: SNOMEDCT_2010_1_31:247090008
xref: SNOMEDCT_2010_1_31:60189009
xref: UMLS_CUI:C0155366
is_a: DOID:9720 ! vitreous disease
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:11817
name: urachus cancer
synonym: "malignant tumor of urachus (disorder)" EXACT [SNOMEDCT_2005_07_31:363456000]
xref: ICD9CM:188.7
xref: SNOMEDCT_2010_1_31:363456000
xref: SNOMEDCT_2010_1_31:94120006
xref: UMLS_CUI:C0153615
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11818
name: ureteric orifice cancer
synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [SNOMEDCT_2005_07_31:94122003]
synonym: "malignant tumor of ureteric orifice (disorder)" EXACT [SNOMEDCT_2005_07_31:188245008]
synonym: "Orifice of the Ureter" EXACT [NCI2004_11_17:C12337]
xref: ICD9CM:188.6
xref: NCI:C12337
xref: SNOMEDCT_2010_1_31:188245008
xref: SNOMEDCT_2010_1_31:94122003
xref: UMLS_CUI:C0153614
is_a: DOID:11054 ! urinary bladder cancer
is_a: DOID:11819 ! ureter cancer

[Term]
id: DOID:11819
name: ureter cancer
def: "A urinary system cancer that is located_in the ureter." [url:http\://en.wikipedia.org/wiki/Ureter_cancer]
comment: OMIM mapping confirmed by DO. [SN].
subset: TopNodes_DOcancerslim
synonym: "malignant tumour of ureter" EXACT [SNOMEDCT_2005_07_31:154543003]
synonym: "malignant ureteral tumor" EXACT [NCI2004_11_17:C7543]
xref: ICD9CM:189.2
xref: MSH:D014516
xref: NCI:C7543
xref: OMIM:191600
xref: SNOMEDCT_2010_1_31:154543003
xref: SNOMEDCT_2010_1_31:363458004
xref: SNOMEDCT_2010_1_31:94121005
xref: UMLS_CUI:C0153619
is_a: DOID:3996 ! urinary system cancer

[Term]
id: DOID:11820
name: bladder dome cancer
synonym: "malignant neoplasm of apex of urinary bladder" EXACT [SNOMEDCT_2005_07_31:93678005]
synonym: "malignant neoplasm of dome of urinary bladder" EXACT [ICD9CM_2006:188.1]
synonym: "malignant tumor of vault of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188240003]
synonym: "Superior Surface of bladder" EXACT [NCI2004_11_17:C12332]
xref: ICD9CM:188.1
xref: NCI:C12332
xref: SNOMEDCT_2010_1_31:188240003
xref: SNOMEDCT_2010_1_31:93678005
xref: UMLS_CUI:C0496827
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11821
name: bladder lymphoma
synonym: "Lymphoma of the urinary bladder" EXACT [NCI2004_11_17:C6164]
xref: NCI:C6164
xref: UMLS_CUI:C1332561
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11823
name: hepatorenal syndrome
synonym: "Hepatorenal syndrome" EXACT [ICD9CM_2006:572.4]
synonym: "Hepatorenal syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:51292008]
xref: ICD9CM:572.4
xref: MSH:D006530
xref: SNOMEDCT_2010_1_31:51292008
xref: UMLS_CUI:C0019212
is_a: DOID:3021 ! acute kidney failure
is_a: DOID:409 ! liver disease

[Term]
id: DOID:11824
name: multicentric reticulohistiocytosis
def: "A rare systemic granulomatous syndrome characterized_by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis." [PMID:23130232, url:http\://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis]
synonym: "Lipoid dermatoarthritis (disorder)" EXACT [SNOMEDCT_2005_07_31:84241008]
synonym: "Multicentric reticulohistiocytosis" EXACT [SNOMEDCT_2005_07_31:190801003]
xref: NCI:C27896
xref: ORDO:139436
xref: SNOMEDCT_2010_1_31:190801003
xref: SNOMEDCT_2010_1_31:84241008
xref: UMLS_CUI:C0311284
is_a: DOID:225 ! syndrome

[Term]
id: DOID:11828
name: visual cortex disorder due to vascular disorder
xref: ICD9CM:377.72
xref: SNOMEDCT_2010_1_31:194069005
xref: SNOMEDCT_2010_1_31:57441008
xref: UMLS_CUI:C0155318
is_obsolete: true

[Term]
id: DOID:11829
name: degenerative myopia
synonym: "degenerative progressive high myopia (disorder)" EXACT [SNOMEDCT_2005_07_31:32022003]
synonym: "malignant myopia (disorder)" EXACT [SNOMEDCT_2005_07_31:193276002]
synonym: "pathological myopia" EXACT []
synonym: "Pathological myopia" EXACT [SNOMEDCT_2005_07_31:193625005]
synonym: "progressive high (degenerative) myopia" EXACT [ICD9CM_2006:360.21]
synonym: "progressive high myopia" EXACT [MTHICD9_2006:360.21]
xref: EFO:0004207
xref: ICD9CM:360.21
xref: MSH:D047728
xref: SNOMEDCT_2010_1_31:193276002
xref: SNOMEDCT_2010_1_31:193278001
xref: SNOMEDCT_2010_1_31:193625005
xref: SNOMEDCT_2010_1_31:32022003
xref: UMLS_CUI:C0154778
is_a: DOID:11830 ! myopia
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:1183
name: nephrotic syndrome with lesion of membranoproliferative glomerulonephritis
synonym: "Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis" EXACT [ICD9CM_2006:581.2]
xref: ICD9CM:581.2
xref: NCI:C35216
xref: UMLS_CUI:C0156229
is_obsolete: true

[Term]
id: DOID:11830
name: myopia
def: "A refractive error characterized_by the inability to see farther objects clearly." [url:http\://en.wikipedia.org/wiki/Myopia, url:http\://ghr.nlm.nih.gov/glossary=myopia, url:http\://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548]
comment: Xref MGI.
synonym: "near vision" EXACT [CSP2005:1116-2455]
synonym: "near-sightedness" EXACT [MTHICD9_2006:367.1]
synonym: "short-sightedness" EXACT []
xref: EFO:0003927
xref: ICD10CM:H52.1
xref: ICD9CM:367.1
xref: MSH:D009216
xref: OMIM:160700
xref: OMIM:255500
xref: OMIM:300613
xref: OMIM:310460
xref: OMIM:603221
xref: OMIM:608367
xref: OMIM:608474
xref: OMIM:608908
xref: OMIM:609256
xref: OMIM:609257
xref: OMIM:609258
xref: OMIM:609259
xref: OMIM:609994
xref: OMIM:609995
xref: OMIM:610320
xref: OMIM:612554
xref: OMIM:612717
xref: OMIM:613959
xref: OMIM:614166
xref: OMIM:614167
xref: OMIM:615420
xref: OMIM:615431
xref: OMIM:615946
xref: SNOMEDCT_2010_1_31:155133003
xref: SNOMEDCT_2010_1_31:57190000
xref: UMLS_CUI:C0027092
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11831
name: cortical blindness
synonym: "Cortical blindness" EXACT [ICD9CM_2006:377.75]
synonym: "Cortical blindness (disorder)" EXACT [SNOMEDCT_2005_07_31:68574006]
xref: ICD9CM:377.75
xref: MSH:D019575
xref: SNOMEDCT_2010_1_31:68574006
xref: UMLS_CUI:C0155320
is_a: DOID:5691 ! visual cortex disease

[Term]
id: DOID:11832
name: visual epilepsy
synonym: "epilepsy, visual" EXACT [MTHICD9_2006:345.5]
xref: MSH:D012640
xref: NCI:C3980
xref: SNOMEDCT_2010_1_31:39194005
xref: UMLS_CUI:C0270824
is_a: DOID:1826 ! epilepsy syndrome
is_a: DOID:5691 ! visual cortex disease

[Term]
id: DOID:11836
name: clubfoot
alt_id: DOID:0001874
comment: OMIM mapping confirmed by DO. [SN].
synonym: "congenital clubfoot" EXACT []
synonym: "Congenital equinovarus" EXACT [MTHICD9_2006:754.51]
synonym: "congenital talipes equinovarus" EXACT []
synonym: "Equinovarus deformity of foot (finding)" EXACT [SNOMEDCT_2005_07_31:249808002]
xref: ICD9CM:754.51
xref: MSH:C538680
xref: MSH:D003025
xref: NCI:C84641
xref: OMIM:119800
xref: SNOMEDCT_2010_1_31:15169008
xref: SNOMEDCT_2010_1_31:156985005
xref: SNOMEDCT_2010_1_31:156987002
xref: SNOMEDCT_2010_1_31:205089003
xref: SNOMEDCT_2010_1_31:249808002
xref: SNOMEDCT_2010_1_31:253957000
xref: SNOMEDCT_2010_1_31:268340009
xref: SNOMEDCT_2010_1_31:268341008
xref: SNOMEDCT_2010_1_31:33163000
xref: SNOMEDCT_2010_1_31:397932003
xref: UMLS_CUI:C0009081
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:11837
name: malignant neoplasm of scapula and long bones of upper limb
xref: ICD9CM:170.4
xref: UMLS_CUI:C0153514
is_obsolete: true

[Term]
id: DOID:11838
name: penis sarcoma
def: "A sarcoma and malignant neoplasm of penis that is located_in the penis." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20penis&c=pc&ss=]
synonym: "sarcoma of penis" EXACT [NCI2004_11_17:C7730]
xref: NCI:C7730
xref: UMLS_CUI:C0238352
is_a: DOID:11615 ! penile cancer

[Term]
id: DOID:11839
name: glans penis cancer
synonym: "malignant neoplasm of glans penis" EXACT [ICD9CM_2006:187.2]
synonym: "malignant tumor of glans penis (disorder)" EXACT [SNOMEDCT_2005_07_31:363451005]
synonym: "malignant tumour of glans penis" EXACT [SNOMEDCT_2005_07_31:93813005]
xref: ICD9CM:187.2
xref: SNOMEDCT_2010_1_31:363451005
xref: SNOMEDCT_2010_1_31:93813005
xref: UMLS_CUI:C0153599
is_a: DOID:11615 ! penile cancer

[Term]
id: DOID:1184
name: nephrotic syndrome
comment: Xref MGI.
synonym: "finnish congenital nephrosis" EXACT []
xref: ICD10CM:N04
xref: ICD9CM:581
xref: MSH:D009404
xref: NCI:C34845
xref: OMIM:256300
xref: OMIM:256370
xref: OMIM:600995
xref: OMIM:610725
xref: OMIM:614196
xref: OMIM:614199
xref: OMIM:615008
xref: OMIM:615244
xref: OMIM:615573
xref: OMIM:615861
xref: SNOMEDCT_2010_1_31:155851004
xref: SNOMEDCT_2010_1_31:197611005
xref: SNOMEDCT_2010_1_31:52254009
xref: UMLS_CUI:C0027726
is_a: DOID:2527 ! nephrosis

[Term]
id: DOID:11840
name: coronary artery vasospasm
synonym: "Coronary artery spasm (disorder)" EXACT [SNOMEDCT_2005_07_31:23687008]
synonym: "Coronary Vasospasm" EXACT [NCI2004_11_17:C34515]
xref: MSH:D003329
xref: NCI:C34515
xref: SNOMEDCT_2010_1_31:23687008
xref: UMLS_CUI:C0010073
is_a: DOID:3393 ! coronary artery disease

[Term]
id: DOID:11843
name: coronary artery anomaly
synonym: "Congenital anomaly of coronary artery (disorder)" EXACT [SNOMEDCT_2005_07_31:28574005]
synonym: "Coronary artery abnormality (disorder)" EXACT [SNOMEDCT_2005_07_31:361215006]
synonym: "Coronary artery abnormality [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:204373000]
synonym: "Coronary artery anomaly NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204380003]
synonym: "Coronary artery anomaly, congenital" EXACT [ICD9CM_2006:746.85]
xref: ICD9CM:746.85
xref: SNOMEDCT_2010_1_31:204373000
xref: SNOMEDCT_2010_1_31:204380003
xref: SNOMEDCT_2010_1_31:28574005
xref: SNOMEDCT_2010_1_31:361215006
xref: UMLS_CUI:C0158623
is_a: DOID:3393 ! coronary artery disease

[Term]
id: DOID:11847
name: coronary thrombosis
synonym: "Coronary artery thrombosis (disorder)" EXACT [SNOMEDCT_2005_07_31:66514008]
xref: MSH:D003328
xref: SNOMEDCT_2010_1_31:155304006
xref: SNOMEDCT_2010_1_31:194796000
xref: SNOMEDCT_2010_1_31:266288001
xref: SNOMEDCT_2010_1_31:398274000
xref: SNOMEDCT_2010_1_31:66514008
xref: UMLS_CUI:C0010072
is_a: DOID:3393 ! coronary artery disease

[Term]
id: DOID:11849
name: degenerative changes of ciliary body
synonym: "Ciliary body degenerative changes (disorder)" EXACT [SNOMEDCT_2005_07_31:193508003]
synonym: "degenerative changes of ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:40153005]
xref: ICD9CM:364.57
xref: SNOMEDCT_2010_1_31:193508003
xref: SNOMEDCT_2010_1_31:40153005
xref: UMLS_CUI:C0154924
is_obsolete: true

[Term]
id: DOID:11850
name: transient refractive change
synonym: "Transient refractive change (disorder)" EXACT [SNOMEDCT_2005_07_31:81519008]
xref: ICD9CM:367.81
xref: SNOMEDCT_2010_1_31:81519008
xref: UMLS_CUI:C0155000
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11851
name: indeterminate leprosy
def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217]
subset: gram-positive_bacterial_infectious_disease
synonym: "Indeterminate leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:14386001]
synonym: "Indeterminate leprosy [group I]" EXACT [ICD9CM_2006:030.2]
synonym: "Uncharacteristic leprosy" EXACT [MTHICD9_2006:030.2]
xref: ICD9CM:030.2
xref: SNOMEDCT_2010_1_31:14386001
xref: UMLS_CUI:C0021192
is_a: DOID:1024 ! leprosy

[Term]
id: DOID:11852
name: aortic valve syphilitic endocarditis
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "Syphilitic endocarditis of aortic valve (disorder)" EXACT [SNOMEDCT_2005_07_31:278480000]
xref: ICD9CM:093.22
xref: SNOMEDCT_2010_1_31:186876003
xref: SNOMEDCT_2010_1_31:278480000
xref: UMLS_CUI:C0153161
is_obsolete: true

[Term]
id: DOID:11853
name: monocular exotropia
xref: ICD9CM:378.11
xref: MSH:D005099
xref: SNOMEDCT_2010_1_31:194087008
xref: SNOMEDCT_2010_1_31:5725006
xref: UMLS_CUI:C0152206
is_a: DOID:1143 ! exotropia

[Term]
id: DOID:11854
name: monocular exotropia with A pattern
synonym: "Monocular exotropia with A pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:45062007]
xref: ICD9CM:378.12
xref: SNOMEDCT_2010_1_31:194088003
xref: SNOMEDCT_2010_1_31:45062007
xref: UMLS_CUI:C0155328
is_obsolete: true

[Term]
id: DOID:11855
name: intermittent monocular exotropia
synonym: "Intermittent exotropia, monocular" EXACT [ICD9CM_2006:378.23]
synonym: "Intermittent monocular exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194103006]
synonym: "Monocular intermittent exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:67028000]
xref: ICD9CM:378.23
xref: SNOMEDCT_2010_1_31:194103006
xref: SNOMEDCT_2010_1_31:67028000
xref: UMLS_CUI:C0152213
is_obsolete: true

[Term]
id: DOID:11856
name: monocular exotropia with V pattern
synonym: "Monocular exotropia with V pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:111529008]
xref: ICD9CM:378.13
xref: SNOMEDCT_2010_1_31:111529008
xref: SNOMEDCT_2010_1_31:194089006
xref: UMLS_CUI:C0155329
is_obsolete: true

[Term]
id: DOID:11861
name: prolonged pregnancy
xref: ICD9CM:645.1
xref: ICD9CM:645.2
xref: MSH:D011273
xref: SNOMEDCT_2010_1_31:156122006
xref: SNOMEDCT_2010_1_31:199061006
xref: SNOMEDCT_2010_1_31:199062004
xref: SNOMEDCT_2010_1_31:199065002
xref: SNOMEDCT_2010_1_31:199066001
xref: SNOMEDCT_2010_1_31:90968009
xref: UMLS_CUI:C0032993
is_obsolete: true

[Term]
id: DOID:11862
name: late pregnancy
xref: ICD9CM:645
xref: UMLS_CUI:C0878751
is_obsolete: true

[Term]
id: DOID:11864
name: peripheral focal chorioretinitis
synonym: "Focal choroiditis and chorioretinitis, peripheral" EXACT [ICD9CM_2006:363.04]
synonym: "peripheral focal choroiditis AND chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:56787009]
xref: ICD9CM:363.04
xref: SNOMEDCT_2010_1_31:56787009
xref: UMLS_CUI:C0339394
is_a: DOID:1979 ! focal chorioretinitis

[Term]
id: DOID:11868
name: chronic erythremia
xref: ICD9CM:207.1
xref: SNOMEDCT_2010_1_31:188753004
xref: SNOMEDCT_2010_1_31:190042004
xref: SNOMEDCT_2010_1_31:269478004
xref: SNOMEDCT_2010_1_31:48292007
xref: SNOMEDCT_2010_1_31:92810002
xref: UMLS_CUI:C0152272
is_a: DOID:1240 ! leukemia

[Term]
id: DOID:1187
name: tibial neuropathy
synonym: "Posterior tibial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:399364006]
synonym: "Tibial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:359842002]
synonym: "Tibial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:399076001]
synonym: "Tibial neuropathy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:35062009]
xref: MSH:D020429
xref: SNOMEDCT_2010_1_31:35062009
xref: SNOMEDCT_2010_1_31:359842002
xref: SNOMEDCT_2010_1_31:399076001
xref: SNOMEDCT_2010_1_31:399364006
xref: UMLS_CUI:C0751932
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:11870
name: Pick's disease
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Dementia in Pick's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:192174003]
synonym: "LOBAR ATROPHY OF BRAIN" EXACT []
synonym: "Pick disease" EXACT []
synonym: "PICK DISEASE OF BRAIN" EXACT []
xref: ICD9CM:331.11
xref: MSH:C531778
xref: MSH:D020774
xref: NCI:C85008
xref: OMIM:172700
xref: SNOMEDCT_2010_1_31:13092008
xref: SNOMEDCT_2010_1_31:154998003
xref: SNOMEDCT_2010_1_31:192174003
xref: SNOMEDCT_2010_1_31:267688001
xref: UMLS_CUI:C0236642
is_a: DOID:1289 ! neurodegenerative disease

[Term]
id: DOID:11871
name: macular keratitis
synonym: "Macular keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:2853006]
synonym: "Macular keratitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193769006]
xref: ICD9CM:370.22
xref: SNOMEDCT_2010_1_31:193769006
xref: SNOMEDCT_2010_1_31:2853006
xref: UMLS_CUI:C0155076
is_a: DOID:4677 ! keratitis

[Term]
id: DOID:11872
name: Staphylococcus aureus septicemia
subset: gram-positive_bacterial_infectious_disease
synonym: "Septicemia due to Staphylococcus aureus (disorder)" EXACT [SNOMEDCT_2005_07_31:186385009]
xref: SNOMEDCT_2010_1_31:186385009
xref: UMLS_CUI:C0349006
is_obsolete: true

[Term]
id: DOID:11873
name: staphylococcal septicemia
subset: gram-positive_bacterial_infectious_disease
xref: ICD9CM:038.1
xref: ICD9CM:038.10
xref: SNOMEDCT_2010_1_31:111821004
xref: UMLS_CUI:C0152965
is_obsolete: true

[Term]
id: DOID:11874
name: abnormal threshold of rods
synonym: "abnormal dark adaptation curve" EXACT [ICD9CM_2006:368.63]
synonym: "abnormal dark adaptation curve (disorder)" EXACT [SNOMEDCT_2005_07_31:50455002]
synonym: "abnormal dark adaptive curve NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193692003]
xref: ICD9CM:368.63
xref: SNOMEDCT_2010_1_31:193692003
xref: SNOMEDCT_2010_1_31:50455002
xref: UMLS_CUI:C0155019
is_a: DOID:8499 ! night blindness

[Term]
id: DOID:11875
name: denture stomatitis
synonym: "Denture sore mouth" EXACT [MTHICD9_2006:528.9]
synonym: "Denture stomatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:69254008]
synonym: "Denture stomatitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:196576008]
xref: MSH:D013282
xref: SNOMEDCT_2010_1_31:196576008
xref: SNOMEDCT_2010_1_31:69254008
xref: UMLS_CUI:C0038364
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:1188
name: mononeuropathy
synonym: "Mononeuropathy" EXACT [SNOMEDCT_2005_07_31:304595001]
synonym: "Mononeuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:128189008]
xref: MSH:D020422
xref: SNOMEDCT_2010_1_31:128189008
xref: SNOMEDCT_2010_1_31:304595001
xref: UMLS_CUI:C0494491
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:11885
name: ureteral benign neoplasm
synonym: "neoplasm of ureter (disorder)" EXACT [SNOMEDCT_2005_07_31:126882009]
synonym: "ureteral tumor" EXACT [NCI2004_11_17:C3427]
xref: MSH:D014516
xref: NCI:C3427
xref: SNOMEDCT_2010_1_31:126882009
xref: UMLS_CUI:C0041955
is_a: DOID:731 ! urinary system benign neoplasm

[Term]
id: DOID:11887
name: ureter leiomyoma
synonym: "ureteral leiomyoma" EXACT [NCI2004_11_17:C6161]
xref: NCI:C6161
xref: UMLS_CUI:C1336875
is_a: DOID:11885 ! ureteral benign neoplasm

[Term]
id: DOID:11888
name: Schwannoma of ureter
synonym: "ureteral Schwannoma" EXACT [NCI2004_11_17:C6162]
xref: NCI:C6162
xref: UMLS_CUI:C1336877
is_a: DOID:956 ! peripheral nerve schwannoma

[Term]
id: DOID:11889
name: female breast nipple and areola cancer
synonym: "malignant neoplasm of nipple and areola of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188147009]
synonym: "malignant neoplasm of nipple or areola of female breast NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188150007]
xref: ICD9CM:174.0
xref: SNOMEDCT_2010_1_31:188147009
xref: SNOMEDCT_2010_1_31:188150007
xref: UMLS_CUI:C0024621
is_a: DOID:0050671 ! female breast cancer

[Term]
id: DOID:11892
name: Amoebozoa infectious disease
def: "A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa." [url:http\://en.wikipedia.org/wiki/Amoebozoa]
synonym: "sarcodina" RELATED []
xref: UMLS_CUI:C0085312
is_obsolete: true

[Term]
id: DOID:11893
name: cutaneous amebiasis
def: "An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16780468]
synonym: "Amebic skin ulceration" EXACT [ICD9CM_2006:006.6]
synonym: "amebic ulcer of skin" EXACT []
synonym: "Amebic ulcer of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:400086005]
synonym: "Amoebic skin ulceration" EXACT [SNOMEDCT_2005_07_31:54065007]
xref: ICD9CM:006.6
xref: SNOMEDCT_2010_1_31:400086005
xref: SNOMEDCT_2010_1_31:54065007
xref: UMLS_CUI:C1318565
is_obsolete: true

[Term]
id: DOID:11896
name: Acanthamoeba keratitis
def: "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." [url:http\://www.cdc.gov/acanthamoeba/disease.html]
synonym: "Acanthameba keratitis" EXACT [SNOMEDCT_2005_07_31:187243004]
synonym: "Acanthamoeba keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:231896005]
xref: MSH:D015823
xref: NCI:C50450
xref: SNOMEDCT_2010_1_31:187243004
xref: SNOMEDCT_2010_1_31:231896005
xref: UMLS_CUI:C0000880
is_obsolete: true

[Term]
id: DOID:11897
name: Blastocystis hominis infectious disease
alt_id: DOID:0050248
def: "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Blastocystis.htm]
xref: MSH:D016776
xref: SNOMEDCT_2010_1_31:421204004
xref: UMLS_CUI:C0085313
is_obsolete: true

[Term]
id: DOID:119
name: vaginal cancer
alt_id: DOID:1902
def: "A female reproductive system cancer that is located_in the vagina." [url:http\://www.cancer.gov/dictionary?CdrID=523460]
subset: TopNodes_DOcancerslim
synonym: "malignant neoplasm of vagina" EXACT [ICD9CM_2006:184.0]
synonym: "malignant tumor of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:363445000]
synonym: "malignant vaginal tumor" EXACT [NCI2004_11_17:C7410]
synonym: "neoplasm of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:126921000]
synonym: "vagina neoplasm" EXACT [CSP2005:2016-2004]
synonym: "vaginal tumor" EXACT [NCI2004_11_17:C3437]
xref: ICD9CM:184.0
xref: MSH:D014625
xref: NCI:C7410
xref: SNOMEDCT_2010_1_31:126921000
xref: SNOMEDCT_2010_1_31:154534007
xref: SNOMEDCT_2010_1_31:188210000
xref: SNOMEDCT_2010_1_31:363445000
xref: UMLS_CUI:C0042237
xref: UMLS_CUI:C0042258
is_a: DOID:120 ! female reproductive organ cancer

[Term]
id: DOID:11902
name: cerebral amebiasis
def: "An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses." [url:http\://emedicine.medscape.com/article/996092-overview, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8126521]
synonym: "amebic abscess of brain" EXACT []
synonym: "Amebic brain abscess" EXACT [ICD9CM_2006:006.5]
synonym: "Amebic brain abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:27908001]
xref: ICD9CM:006.5
xref: SNOMEDCT_2010_1_31:27908001
xref: UMLS_CUI:C0152503
is_obsolete: true

[Term]
id: DOID:11905
name: labium majus cancer
synonym: "malignant neoplasm of labia majora" EXACT [ICD9CM_2006:184.1]
synonym: "malignant neoplasm of labia majora" EXACT [SNOMEDCT_2005_07_31:93850006]
synonym: "malignant neoplasm of labia majora (disorder)" EXACT [SNOMEDCT_2005_07_31:363446004]
synonym: "malignant neoplasm of labia majora NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188212008]
synonym: "malignant tumor of Labia Majora" EXACT [NCI2004_11_17:C7638]
xref: ICD9CM:184.1
xref: NCI:C7638
xref: SNOMEDCT_2010_1_31:188212008
xref: SNOMEDCT_2010_1_31:363446004
xref: SNOMEDCT_2010_1_31:93850006
xref: UMLS_CUI:C0496814
is_a: DOID:1245 ! vulva cancer

[Term]
id: DOID:11907
name: ecthyma
subset: gram-positive_bacterial_infectious_disease
synonym: "Ecthyma (disorder)" EXACT [SNOMEDCT_2005_07_31:85791004]
xref: MSH:D004473
xref: SNOMEDCT_2010_1_31:85791004
xref: UMLS_CUI:C0013568
is_a: DOID:8504 ! impetigo

[Term]
id: DOID:11914
name: gastroparesis
synonym: "gastric atonia (disorder)" EXACT [SNOMEDCT_2005_07_31:196753007]
synonym: "Gastroparalysis" EXACT [MTHICD9_2006:536.3]
synonym: "Gastroparesis syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:77164002]
xref: ICD9CM:536.3
xref: MSH:D018589
xref: NCI:C80512
xref: SNOMEDCT_2010_1_31:196753007
xref: SNOMEDCT_2010_1_31:235675006
xref: SNOMEDCT_2010_1_31:77164002
xref: UMLS_CUI:C0152020
is_a: DOID:1159 ! functional gastric disease

[Term]
id: DOID:11917
name: tinea cruris
def: "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze." [url:http\://en.wikipedia.org/wiki/Tinea_cruris]
synonym: "(Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris)" EXACT [SNOMEDCT_2005_07_31:186989008]
synonym: "Dermatophytosis of Groin and Perianal Area" EXACT [NCI2004_11_17:C34535]
synonym: "Dermatophytosis of groin and perianal area (disorder)" EXACT [SNOMEDCT_2005_07_31:266150008]
synonym: "Dermatophytosis of groin and perianal area NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186992007]
xref: ICD9CM:110.3
xref: NCI:C34535
xref: SNOMEDCT_2010_1_31:186989008
xref: SNOMEDCT_2010_1_31:186992007
xref: SNOMEDCT_2010_1_31:266150008
xref: SNOMEDCT_2010_1_31:59089002
xref: UMLS_CUI:C0011638
is_a: DOID:8913 ! dermatophytosis

[Term]
id: DOID:1192
name: peripheral nervous system neoplasm
alt_id: DOID:3194
def: "A nervous system cancer that is located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Peripheral_nervous_system]
subset: TopNodes_DOcancerslim
synonym: "neoplasm of peripheral nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126980002]
synonym: "nerve sheath neoplasm" EXACT [CSP2005:2012-6947]
synonym: "nerve sheath tumors" EXACT []
synonym: "tumor of PNS" EXACT [NCI2004_11_17:C3321]
xref: MSH:D010524
xref: NCI:C3321
xref: SNOMEDCT_2010_1_31:115242003
xref: SNOMEDCT_2010_1_31:126980002
xref: SNOMEDCT_2010_1_31:134214003
xref: SNOMEDCT_2010_1_31:189946005
xref: SNOMEDCT_2010_1_31:189953001
xref: UMLS_CUI:C0031118
xref: UMLS_CUI:C0206727
is_a: DOID:3093 ! nervous system cancer

[Term]
id: DOID:11920
name: tracheal cancer
def: "A respiratory system cancer that is located_in the trachea." [url:http\://en.wikipedia.org/wiki/Lung_cancer]
subset: TopNodes_DOcancerslim
synonym: "Ca trachea" EXACT [SNOMEDCT_2005_07_31:269562004]
synonym: "malignant neoplasm of trachea" EXACT [MTH:NOCODE]
synonym: "malignant Tracheal tumor" EXACT [NCI2004_11_17:C9346]
synonym: "malignant tumor of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:363432004]
xref: ICD9CM:162.0
xref: NCI:C9346
xref: SNOMEDCT_2010_1_31:187855003
xref: SNOMEDCT_2010_1_31:269562004
xref: SNOMEDCT_2010_1_31:363432004
xref: UMLS_CUI:C0153489
is_a: DOID:0050615 ! respiratory system cancer

[Term]
id: DOID:11934
name: head and neck cancer
def: "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." [url:http\://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=257519, url:http\://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb9/index.php]
subset: TopNodes_DOcancerslim
synonym: "head and neck neoplasm" EXACT [MTH:NOCODE]
synonym: "head and neck tumours" EXACT []
synonym: "head/neck neoplasm" EXACT [CSP2005:2005-4325]
synonym: "tumor of head and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:255055008]
xref: MSH:D006258
xref: NCI:C3077
xref: SNOMEDCT_2010_1_31:255055008
xref: UMLS_CUI:C0018671
is_a: DOID:0050686 ! organ system cancer

[Term]
id: DOID:11939
name: schizo-affective type schizophrenia subchronic state
xref: ICD9CM:295.71
xref: UMLS_CUI:C0154375
is_obsolete: true

[Term]
id: DOID:11943
name: Trichomonas vaginitis
def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm]
synonym: "Leukorrhoea vaginalis - trichomonal" EXACT [SNOMEDCT_2005_07_31:187201006]
synonym: "Trichomonal leukorrhoea" EXACT [SNOMEDCT_2005_07_31:266165009]
synonym: "Trichomonal vaginitis &/or vulvovaginitis" EXACT [SNOMEDCT_2005_07_31:187202004]
synonym: "Trichomonal vaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:276877003]
synonym: "Trichomonal vulvovaginitis" EXACT [ICD9CM_2006:131.01]
synonym: "Trichomonal vulvovaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:81598001]
synonym: "vaginal trichomoniasis (disorder)" EXACT [SNOMEDCT_2005_07_31:500000]
xref: MSH:D014247
xref: NCI:C35083
xref: SNOMEDCT_2010_1_31:187201006
xref: SNOMEDCT_2010_1_31:187202004
xref: SNOMEDCT_2010_1_31:266165009
xref: SNOMEDCT_2010_1_31:276877003
xref: SNOMEDCT_2010_1_31:500000
xref: SNOMEDCT_2010_1_31:81598001
xref: UMLS_CUI:C0040923
is_obsolete: true

[Term]
id: DOID:11944
name: Trichomonas prostatitis
def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm]
synonym: "Trichomonal prostatitis" EXACT [ICD9CM_2006:131.03]
synonym: "Trichomonal prostatitis" EXACT [SNOMEDCT_2005_07_31:187203009]
synonym: "Trichomonal prostatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:71590000]
xref: ICD9CM:131.03
xref: NCI:C35176
xref: SNOMEDCT_2010_1_31:187203009
xref: SNOMEDCT_2010_1_31:71590000
xref: UMLS_CUI:C0153315
is_obsolete: true

[Term]
id: DOID:11945
name: Trichomonas cystitis
def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color." [url:http\://www.merck.com/mmpe/sec14/ch194/ch194j.html]
synonym: "Trichomonal cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:197850006]
xref: NCI:C35405
xref: SNOMEDCT_2010_1_31:197850006
xref: UMLS_CUI:C0341733
is_obsolete: true

[Term]
id: DOID:11946
name: habitual abortion
synonym: "Aborter - recurrent" EXACT [SNOMEDCT_2005_07_31:146811001]
synonym: "Aborter - recurrent" EXACT [SNOMEDCT_2005_07_31:268574009]
synonym: "chronic spontaneous abortion" EXACT [CSP2005:2404-4533]
synonym: "Habitual aborter" EXACT [SNOMEDCT_2005_07_31:54726000]
synonym: "Habitual aborter - unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:199086002]
synonym: "Habitual aborter NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:199090000]
synonym: "recurrent abortion (disorder)" EXACT [SNOMEDCT_2005_07_31:102878001]
synonym: "recurrent miscarriage" EXACT [SNOMEDCT_2005_07_31:156126009]
xref: MSH:D000026
xref: SNOMEDCT_2010_1_31:102878001
xref: SNOMEDCT_2010_1_31:146811001
xref: SNOMEDCT_2010_1_31:156126009
xref: SNOMEDCT_2010_1_31:199086002
xref: SNOMEDCT_2010_1_31:199090000
xref: SNOMEDCT_2010_1_31:268574009
xref: SNOMEDCT_2010_1_31:54726000
xref: UMLS_CUI:C0000809
is_obsolete: true

[Term]
id: DOID:11947
name: recurrent major depression in complete remission
synonym: "Major depressive disorder, recurrent episode, in full remission" EXACT [ICD9CM_2006:296.36]
synonym: "recurrent major depression in complete remission (disorder)" EXACT [SNOMEDCT_2005_07_31:46244001]
synonym: "recurrent major depressive episodes, in full remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191615005]
xref: ICD9CM:296.36
xref: SNOMEDCT_2010_1_31:191615005
xref: SNOMEDCT_2010_1_31:46244001
xref: UMLS_CUI:C0154415
is_obsolete: true

[Term]
id: DOID:11949
name: Creutzfeldt-Jakob disease
comment: OMIM mapping confirmed by DO. [SN].
subset: zoonotic_infectious_disease
synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [CSP2005:2042-5006]
synonym: "Creutzfeldt Jacob syndrome" EXACT []
synonym: "Creutzfeldt Jakob disease" EXACT []
synonym: "Creutzfeldt-Jacob disease" EXACT [NCI2004_11_17:C26802]
synonym: "Jakob-Creutzfeldt disease" EXACT [ICD9CM_2006:046.1]
synonym: "Subacute spongiform encephalopathy" EXACT [MTHICD9_2006:046.1]
synonym: "Transmissible virus dementia (disorder)" EXACT [SNOMEDCT_2005_07_31:79358009]
xref: EFO:0004226
xref: ICD9CM:046.1
xref: MSH:D007562
xref: NCI:C26802
xref: OMIM:123400
xref: SNOMEDCT_2010_1_31:155061007
xref: SNOMEDCT_2010_1_31:792004
xref: SNOMEDCT_2010_1_31:79358009
xref: UMLS_CUI:C0022336
is_a: DOID:649 ! prion disease

[Term]
id: DOID:1195
name: ischemic neuropathy
synonym: "Ischemic Neuropathy" EXACT [NCI2004_11_17:C27025]
synonym: "Ischemic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:230599000]
synonym: "Ischemic peripheral neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:129611009]
xref: NCI:C27025
xref: SNOMEDCT_2010_1_31:129611009
xref: SNOMEDCT_2010_1_31:230599000
xref: UMLS_CUI:C0238309
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:11950
name: Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium
alt_id: DOID:11951
alt_id: DOID:11953
synonym: "antepartum congenital cardiovascular disorder of mother" EXACT []
synonym: "postpartum congenital cardiovascular disorder of mother" EXACT []
xref: ICD9CM:648.5
xref: UMLS_CUI:C0156860
is_obsolete: true

[Term]
id: DOID:11952
name: Congenital cardiovascular disorder of mother, with delivery
xref: ICD9CM:648.51
xref: UMLS_CUI:C0156862
is_obsolete: true

[Term]
id: DOID:11954
name: psychosexual dysfunction with inhibited sexual excitement
synonym: "Psychosexual Dysfunction with Inhibited Sexual Excitement" EXACT [NCI2004_11_17:C34960]
xref: ICD9CM:302.72
xref: NCI:C34960
xref: UMLS_CUI:C0033950
is_obsolete: true

[Term]
id: DOID:11955
name: malnutrition of moderate degree
xref: ICD9CM:263.0
xref: UMLS_CUI:C0154227
is_obsolete: true

[Term]
id: DOID:11963
name: esophagitis
alt_id: DOID:11962
synonym: "acute esophagitis" EXACT []
synonym: "acute esophagitis (disorder)" EXACT [SNOMEDCT_2005_07_31:409656006]
xref: ICD9CM:530.1
xref: ICD9CM:530.10
xref: MSH:D004941
xref: NCI:C9224
xref: SNOMEDCT_2010_1_31:155673008
xref: SNOMEDCT_2010_1_31:16761005
xref: SNOMEDCT_2010_1_31:196605000
xref: SNOMEDCT_2010_1_31:266498005
xref: UMLS_CUI:C0014868
is_a: DOID:6050 ! esophageal disease

[Term]
id: DOID:11964
name: Histoplasma capsulatum retinitis
def: "An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1945308]
synonym: "Histoplasma capsulatum with retinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187039009]
xref: ICD9CM:115.02
xref: SNOMEDCT_2010_1_31:187039009
xref: UMLS_CUI:C0153264
is_obsolete: true

[Term]
id: DOID:11968
name: postmenopausal atrophic vaginitis
synonym: "atrophic vaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:52441000]
synonym: "Senile vaginitis" EXACT [MTHICD9_2006:627.3]
xref: ICD9CM:627.3
xref: SNOMEDCT_2010_1_31:156054004
xref: SNOMEDCT_2010_1_31:52441000
xref: UMLS_CUI:C0156409
is_a: DOID:2170 ! vaginitis

[Term]
id: DOID:11970
name: symptomatic menopausal or female climacteric state
xref: ICD9CM:627.2
xref: UMLS_CUI:C1135336
is_obsolete: true

[Term]
id: DOID:11971
name: synostosis
def: "A dysostosis that results_in abnormal fusing of adjacent bones." [url:http\://en.wikipedia.org/wiki/Synostosis, url:http\://medical-dictionary.thefreedictionary.com/synostosis]
xref: MSH:D013580
xref: UMLS_CUI:C0039093
is_a: DOID:1934 ! dysostosis

[Term]
id: DOID:11975
name: coloboma of optic nerve
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Coloboma of optic disc (disorder)" EXACT [SNOMEDCT_2005_07_31:17541006]
xref: ICD9CM:377.23
xref: MSH:C535970
xref: OMIM:120430
xref: SNOMEDCT_2010_1_31:155191004
xref: SNOMEDCT_2010_1_31:17541006
xref: SNOMEDCT_2010_1_31:267744000
xref: UMLS_CUI:C0155299
is_a: DOID:1393 ! visual pathway disease

[Term]
id: DOID:11976
name: botulism
def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." [url:http\://emedicine.medscape.com/article/325451-overview, url:http\://en.wikipedia.org/wiki/Botulism, url:http\://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html, url:http\://pathema.jcvi.org/pathema/botulinum_resources.shtml, url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf, url:http\://www.who.int/mediacentre/factsheets/fs270/en/]
subset: gram-positive_bacterial_infectious_disease
synonym: "Botulism poisoning" EXACT []
synonym: "Food poisoning due to Clostridium botulinum" EXACT [MTHICD9_2006:005.1]
synonym: "Foodborne botulism" EXACT [SNOMEDCT_2005_07_31:398523009]
synonym: "Infection due to clostridium botulinum" EXACT [SNOMEDCT_2005_07_31:398565003]
synonym: "Intoxication with Clostridium botulinum toxin" EXACT [SNOMEDCT_2005_07_31:414531002]
xref: CSP:5000-0060
xref: MSH:D001906
xref: NCI:C84599
xref: SNOMEDCT_2010_1_31:154276003
xref: SNOMEDCT_2010_1_31:186110004
xref: SNOMEDCT_2010_1_31:266177004
xref: SNOMEDCT_2010_1_31:398523009
xref: SNOMEDCT_2010_1_31:398530003
xref: SNOMEDCT_2010_1_31:398565003
xref: SNOMEDCT_2010_1_31:414531002
xref: SNOMEDCT_2010_1_31:49248004
xref: UMLS_CUI:C0006057
is_a: DOID:0050338 ! primary bacterial infectious disease

[Term]
id: DOID:11977
name: disorder of magnesium metabolism
synonym: "disorder of magnesium metabolism" EXACT [ICD9CM_2006:275.2]
synonym: "disorder of magnesium metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:60853003]
synonym: "disorder of magnesium metabolism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190857007]
synonym: "Magnesium disorder" EXACT [SNOMEDCT_2005_07_31:154751003]
synonym: "Magnesium disorder" EXACT [SNOMEDCT_2005_07_31:267504005]
xref: ICD9CM:275.2
xref: SNOMEDCT_2010_1_31:190857007
xref: SNOMEDCT_2010_1_31:60853003
xref: UMLS_CUI:C0012716
is_obsolete: true

[Term]
id: DOID:11978
name: chronic pyelonephritis without lesion of renal medullary necrosis
xref: ICD9CM:590.00
xref: UMLS_CUI:C0156249
is_obsolete: true

[Term]
id: DOID:11981
name: morbid obesity
synonym: "Morbid obesity" EXACT [ICD9CM_2006:278.01]
synonym: "Morbid Obesity" EXACT [NCI2004_11_17:C34858]
synonym: "Morbid obesity" EXACT [SNOMEDCT_2005_07_31:190967003]
synonym: "Morbid obesity" EXACT [SNOMEDCT_2005_07_31:389986000]
synonym: "Morbid obesity (disorder)" EXACT [SNOMEDCT_2005_07_31:238136002]
synonym: "Severe obesity" EXACT [MTHICD9_2006:278.01]
xref: ICD9CM:278.01
xref: MSH:D009767
xref: NCI:C34858
xref: SNOMEDCT_2010_1_31:190967003
xref: SNOMEDCT_2010_1_31:238136002
xref: SNOMEDCT_2010_1_31:389986000
xref: UMLS_CUI:C0028756
is_a: DOID:9970 ! obesity

[Term]
id: DOID:11983
name: Prader-Willi syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Prader Willi syndrome" EXACT [CSP2005:1849-7731]
xref: ICD9CM:759.81
xref: MSH:D011218
xref: NCI:C75463
xref: OMIM:176270
xref: SNOMEDCT_2010_1_31:205794007
xref: SNOMEDCT_2010_1_31:89392001
xref: UMLS_CUI:C0032897
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:11984
name: hypertrophic cardiomyopathy
alt_id: DOID:11986
def: "An intrinsic cardiomyopathy that is characterized by abnormal  thickening (hypertrophy) of the heart without any obvious cause." [url:http\://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, url:http\://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy, url:http\://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/]
comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].
synonym: "familial hypertrophic cardiomyopathy" EXACT []
synonym: "hypertrophic obstructive cardiomyopathy" EXACT [SNOMEDCT_2005_07_31:389999002]
xref: ICD10CM:I42.2
xref: ICD9CM:425.1
xref: KEGG:05410
xref: MSH:D002312
xref: MSH:D024741
xref: NCI:C34449
xref: NCI:C84773
xref: OMIM:115195
xref: OMIM:115196
xref: OMIM:115197
xref: OMIM:192600
xref: OMIM:600858
xref: OMIM:608751
xref: OMIM:608758
xref: OMIM:612098
xref: OMIM:612124
xref: OMIM:613243
xref: OMIM:613251
xref: OMIM:613255
xref: OMIM:613690
xref: OMIM:613765
xref: OMIM:613838
xref: OMIM:613873
xref: OMIM:613874
xref: OMIM:613875
xref: OMIM:613876
xref: OMIM:614676
xref: ORDO:155
xref: SNOMEDCT_2010_1_31:15471000
xref: SNOMEDCT_2010_1_31:155351008
xref: SNOMEDCT_2010_1_31:233873004
xref: SNOMEDCT_2010_1_31:266301006
xref: SNOMEDCT_2010_1_31:389998005
xref: SNOMEDCT_2010_1_31:389999002
xref: SNOMEDCT_2010_1_31:45227007
xref: UMLS_CUI:C0007194
xref: UMLS_CUI:C0949658
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060036 ! intrinsic cardiomyopathy

[Term]
id: DOID:11987
name: anorectal gonorrhea
subset: gram-negative_bacterial_infectious_disease
subset: sexually_transmitted_infectious_disease
synonym: "gonococcal infectious disease of anus and rectum" EXACT []
synonym: "gonococcal proctitis" EXACT []
xref: ICD9CM:098.7
xref: UMLS_CUI:C0153222
is_obsolete: true

[Term]
id: DOID:11988
name: conjunctival concretion
synonym: "Conjunctival concretion (disorder)" EXACT [SNOMEDCT_2005_07_31:13706005]
synonym: "Conjunctival concretions" EXACT [ICD9CM_2006:372.54]
xref: ICD9CM:372.54
xref: SNOMEDCT_2010_1_31:13706005
xref: UMLS_CUI:C0155162
is_a: DOID:11653 ! conjunctival deposit

[Term]
id: DOID:11990
name: ulceroglandular tularemia
def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion." [url:http\://emedicine.medscape.com/article/230923-clinical, url:http\://www.cdc.gov/tularemia/signssymptoms/]
subset: gram-negative_bacterial_infectious_disease
subset: tick-borne_infectious_disease
subset: zoonotic_infectious_disease
synonym: "Ulceroglandular tularemia (disorder)" EXACT [SNOMEDCT_2005_07_31:37722001]
xref: ICD9CM:021.0
xref: SNOMEDCT_2010_1_31:37722001
xref: UMLS_CUI:C0152941
is_a: DOID:2123 ! tularemia

[Term]
id: DOID:11991
name: osteopoikilosis
def: "An osteosclerosis that results_in numerous bone islands located_in skeleton." [url:http\://en.wikipedia.org/wiki/Osteopoikilosis, url:http\://www.bonetumor.org/unknown-tumor-type-bone/osteopoikilosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteopoikilosis.aspx]
xref: ICD9CM:756.53
xref: MSH:D010023
xref: NCI:C84985
xref: SNOMEDCT_2010_1_31:9147009
xref: UMLS_CUI:C0029455
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:11994
name: atrophy of testis
synonym: "Atrophy of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:17585008]
xref: ICD9CM:608.3
xref: SNOMEDCT_2010_1_31:155938008
xref: SNOMEDCT_2010_1_31:17585008
xref: SNOMEDCT_2010_1_31:249242001
xref: UMLS_CUI:C0156312
is_a: DOID:2519 ! testicular disease

[Term]
id: DOID:11996
name: spermatic cord torsion
synonym: "testicular Torsion" EXACT [NCI2004_11_17:C26885]
synonym: "Torsion of spermatic cord" EXACT [SNOMEDCT_2005_07_31:198046000]
synonym: "Torsion of spermatic cord (disorder)" EXACT [SNOMEDCT_2005_07_31:49198006]
synonym: "Torsion of testicle" EXACT [MTHICD9_2006:608.2]
synonym: "Torsion of testis" EXACT [ICD9CM_2006:608.2]
synonym: "Torsion of testis" EXACT [SNOMEDCT_2005_07_31:155937003]
synonym: "Torsion of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:81996005]
synonym: "Torsion of testis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198048004]
synonym: "Torsion of testis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198045001]
xref: ICD9CM:608.2
xref: ICD9CM:608.20
xref: MSH:D013086
xref: NCI:C26885
xref: OMIM:187400
xref: SNOMEDCT_2010_1_31:155937003
xref: SNOMEDCT_2010_1_31:198045001
xref: SNOMEDCT_2010_1_31:198046000
xref: SNOMEDCT_2010_1_31:198048004
xref: SNOMEDCT_2010_1_31:49198006
xref: SNOMEDCT_2010_1_31:81996005
xref: UMLS_CUI:C0037856
is_a: DOID:2519 ! testicular disease

[Term]
id: DOID:11997
name: spermatocele
synonym: "Spermatocele (disorder)" EXACT [SNOMEDCT_2005_07_31:49263001]
xref: ICD9CM:608.1
xref: MSH:D013088
xref: NCI:C3865
xref: SNOMEDCT_2010_1_31:155936007
xref: SNOMEDCT_2010_1_31:155941004
xref: SNOMEDCT_2010_1_31:43077002
xref: SNOMEDCT_2010_1_31:49263001
xref: UMLS_CUI:C0037859
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:120
name: female reproductive organ cancer
alt_id: DOID:1244
alt_id: DOID:1281
def: "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva." [url:http\://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm]
synonym: "female reproductive cancer" EXACT []
synonym: "malignant Gynecologic tumor" EXACT [NCI2004_11_17:C4913]
synonym: "malignant neoplasm of female genital organ" EXACT []
xref: MSH:D005833
xref: NCI:C3053
xref: SNOMEDCT_2010_1_31:126907002
xref: SNOMEDCT_2010_1_31:188207007
xref: UMLS_CUI:C0017416
xref: UMLS_CUI:C0153585
xref: UMLS_CUI:C0699889
is_a: DOID:193 ! reproductive organ cancer

[Term]
id: DOID:12000
name: secondary malignant neoplasm of trachea
synonym: "metastatic tumor to the Trachea" EXACT [NCI2004_11_17:C4887]
synonym: "secondary malignant neoplasm of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:94641004]
xref: NCI:C4887
xref: SNOMEDCT_2010_1_31:94641004
xref: UMLS_CUI:C0685016
is_obsolete: true

[Term]
id: DOID:12001
name: tracheal lymphoma
synonym: "lymphoma of the trachea" EXACT []
synonym: "Lymphoma of Trachea" EXACT [NCI2004_11_17:C6248]
xref: NCI:C6248
xref: UMLS_CUI:C1336773
is_a: DOID:11920 ! tracheal cancer

[Term]
id: DOID:12002
name: trachea sarcoma
def: "A sarcoma and malignant tumor of trachea that is located_in the trachea." [url:http\://en.wikipedia.org/wiki/Lung_cancer]
synonym: "sarcoma of the trachea" EXACT [NCI2004_11_17:C6050]
xref: NCI:C6050
xref: UMLS_CUI:C1336774
is_a: DOID:11920 ! tracheal cancer

[Term]
id: DOID:12003
name: trachea squamous cell carcinoma
synonym: "squamous cell carcinoma of trachea" RELATED []
synonym: "squamous cell carcinoma of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:254620000]
synonym: "Tracheal Epidermoid carcinoma" EXACT [NCI2004_11_17:C4448]
xref: NCI:C4448
xref: SNOMEDCT_2010_1_31:254620000
xref: UMLS_CUI:C0345946
is_a: DOID:4876 ! trachea carcinoma

[Term]
id: DOID:1201
name: trigeminal nerve neoplasm
synonym: "neoplasm of trigeminal nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126971002]
synonym: "tumor of Trigeminal nerve" EXACT [NCI2004_11_17:C5122]
xref: NCI:C5122
xref: SNOMEDCT_2010_1_31:126971002
xref: UMLS_CUI:C1263897
is_a: DOID:338 ! cranial nerve neoplasm

[Term]
id: DOID:12010
name: anterior ischemic optic neuropathy
synonym: "Ischemic optic neuropathy" EXACT [ICD9CM_2006:377.41]
xref: ICD9CM:377.41
xref: MSH:D018917
xref: SNOMEDCT_2010_1_31:14357004
xref: UMLS_CUI:C0155305
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:12016
name: frontal lobe neoplasm
alt_id: DOID:12015
synonym: "malignant neoplasm of frontal lobe" EXACT [ICD9CM_2006:191.1, SNOMEDCT_2005_07_31:93807001]
synonym: "malignant neoplasm of frontal lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:363467004]
synonym: "neoplasm of frontal lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:126954003]
synonym: "tumor of Frontal Lobe" EXACT [NCI2004_11_17:C5572]
xref: ICD9CM:191.1
xref: SNOMEDCT_2010_1_31:126954003
xref: SNOMEDCT_2010_1_31:363467004
xref: SNOMEDCT_2010_1_31:93807001
xref: UMLS_CUI:C0153635
xref: UMLS_CUI:C1263886
is_a: DOID:368 ! cerebrum cancer

[Term]
id: DOID:12017
name: group B streptococcal pneumonia
def: "A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly." [url:http\://en.wikipedia.org/wiki/Streptococcus#Group_B, url:http\://www.ncbi.nlm.nih.gov/pubmed/11462195]
subset: gram-positive_bacterial_infectious_disease
synonym: "Group B" EXACT [ICD9CM_2006:482.32]
synonym: "Group B streptococcal pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:195886008]
synonym: "Pneumonia due to Streptococcus Group B" EXACT [MTHICD9_2006:482.32]
xref: ICD9CM:482.32
xref: SNOMEDCT_2010_1_31:195886008
xref: UMLS_CUI:C0348801
is_obsolete: true

[Term]
id: DOID:12019
name: group A streptococcal pneumonia
def: "A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false]
subset: gram-positive_bacterial_infectious_disease
synonym: "pneumonia due to streptococcus group A" EXACT []
xref: ICD9CM:482.31
xref: UMLS_CUI:C0375324
is_obsolete: true

[Term]
id: DOID:12020
name: malignant neoplasm of corpus uteri, except isthmus
synonym: "malignant neoplasm of corpus uteri, excluding isthmus (disorder)" EXACT [SNOMEDCT_2005_07_31:188189001]
xref: ICD9CM:182.0
xref: SNOMEDCT_2010_1_31:188189001
xref: UMLS_CUI:C1279258
is_obsolete: true

[Term]
id: DOID:12021
name: leukemic reticuloendotheliosis of intrathoracic lymph nodes
synonym: "Leukemic reticuloendotheliosis involving intrathoracic lymph nodes" EXACT [ICD9CM_2006:202.42]
synonym: "Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93146001]
synonym: "Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188646001]
xref: ICD9CM:202.42
xref: SNOMEDCT_2010_1_31:188646001
xref: SNOMEDCT_2010_1_31:93146001
xref: UMLS_CUI:C0153827
is_obsolete: true

[Term]
id: DOID:12022
name: spontaneous abortion complicated by genital tract and pelvic infectious disease
synonym: "spontaneous abortion, unspecified, complicated by genital tract and pelvic infection" EXACT [ICD9CM_2006:634.00]
xref: ICD9CM:634.0
xref: ICD9CM:634.00
xref: UMLS_CUI:C0156424
is_obsolete: true

[Term]
id: DOID:12028
name: Conn's syndrome
def: "An adrenal admenoma characterized by over production of aldosterone." [url:http\://en.wikipedia.org/wiki/Conn%27s_syndrome]
synonym: "Conn syndrome" EXACT []
synonym: "primary aldosteronism" EXACT [ICD9CM_2006:255.10]
synonym: "primary hyperaldosteronism" EXACT [NCI2004_11_17:C34510]
xref: ICD9CM:255.12
xref: MSH:D006929
xref: NCI:C34510
xref: SNOMEDCT_2010_1_31:13536004
xref: SNOMEDCT_2010_1_31:154709005
xref: SNOMEDCT_2010_1_31:190506003
xref: SNOMEDCT_2010_1_31:190507007
xref: SNOMEDCT_2010_1_31:258117004
xref: SNOMEDCT_2010_1_31:267484005
xref: UMLS_CUI:C1384514
is_a: DOID:656 ! adrenal adenoma

[Term]
id: DOID:12029
name: sympathetic ophthalmia
synonym: "Sympathetic uveitis" EXACT [ICD9CM_2006:360.11]
synonym: "Sympathetic uveitis (disorder)" EXACT [SNOMEDCT_2005_07_31:75315001]
xref: ICD9CM:360.11
xref: MSH:D009879
xref: SNOMEDCT_2010_1_31:75315001
xref: UMLS_CUI:C0029077
is_a: DOID:12030 ! panuveitis
is_a: DOID:417 ! hypersensitivity reaction type II disease

[Term]
id: DOID:1203
name: drug-induced mental disorder
xref: ICD9CM:292.8
xref: ICD9CM:292.89
xref: UMLS_CUI:C0154325
is_a: DOID:8646 ! substance-induced psychosis

[Term]
id: DOID:12030
name: panuveitis
synonym: "Diffuse uveitis" EXACT [SNOMEDCT_2005_07_31:75614007]
xref: ICD9CM:360.12
xref: MSH:D015864
xref: NCI:C84989
xref: SNOMEDCT_2010_1_31:75614007
xref: UMLS_CUI:C0030343
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:1204
name: arthropathy due to hypersensitivity reaction
synonym: "Arthropathy associated with a hypersensitivity reaction (disorder)" EXACT [SNOMEDCT_2005_07_31:53338001]
synonym: "Arthropathy associated with hypersensitivity reaction" EXACT [ICD9CM_2006:713.6]
xref: ICD9CM:713.6
xref: SNOMEDCT_2010_1_31:53338001
xref: UMLS_CUI:C0263730
is_obsolete: true

[Term]
id: DOID:12040
name: immune hydrops fetalis
synonym: "Hydrops fetalis - due to isoim" EXACT [SNOMEDCT_2005_07_31:157134005]
synonym: "Hydrops fetalis - due to isoim" EXACT [SNOMEDCT_2005_07_31:268879006]
synonym: "Hydrops fetalis due to isoimmunization" EXACT [ICD9CM_2006:773.3]
synonym: "Hydrops fetalis due to isoimmunization (disorder)" EXACT [SNOMEDCT_2005_07_31:15539009]
synonym: "Hydrops fetalis due to isoimmunization [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:206432002]
xref: ICD9CM:773.3
xref: MSH:D015160
xref: SNOMEDCT_2010_1_31:15539009
xref: SNOMEDCT_2010_1_31:157134005
xref: SNOMEDCT_2010_1_31:206432002
xref: SNOMEDCT_2010_1_31:268879006
xref: UMLS_CUI:C0455990
is_obsolete: true

[Term]
id: DOID:12043
name: kernicterus due to isoimmunization
synonym: "Kernicterus - due to isoimm." EXACT [SNOMEDCT_2005_07_31:157135006]
synonym: "Kernicterus - due to isoimm." EXACT [SNOMEDCT_2005_07_31:268880009]
synonym: "Kernicterus due to isoimmunization (disorder)" EXACT [SNOMEDCT_2005_07_31:359007]
synonym: "Kernicterus due to isoimmunization [dup] (disorder)" EXACT [SNOMEDCT_200