format-version: 1.2 date: 03:10:2012 10:49 saved-by: lschriml auto-generated-by: OBO-Edit 2.1-beta6 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: zoonotic_infectious_disease "zoonotic infectious disease" default-namespace: disease_ontology remark: This is an alpha version and is only for experimental implementation. This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/. [Term] id: DOID:0000000 name: gallbladder disease xref: ICD9CM:575.9 xref: MSH:D005705 xref: NCI:C34631 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:0000405 name: vascular tissue disease is_a: DOID:178 ! vascular 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" EXACT [] 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 trasnmitted_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: OMIM mapping confirmed by DO. [SN]. synonym: "Haemophagocytic lymphohistiocytosis" EXACT [SNOMEDCT_2005_07_31:190958003] synonym: "haemophagocytic syndrome" EXACT [] synonym: "Hemophagocytic Lymphohistiocytosis" EXACT [NCI2004_11_17:C34792] synonym: "Hemophagocytic syndrome" EXACT [NCI2004_11_17:C35439] synonym: "HPS" EXACT [] xref: ICD9CM:288.4 xref: MSH:D051359 xref: NCI:C34792 xref: NCI:C35439 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 [] 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/] 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 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: 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_a: DOID:633 ! myositis [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, Clethrionomys glareolus. 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] 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 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_a: DOID:0060035 ! medical disorder [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 comment: OMIM 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:274400 xref: OMIM:274500 xref: OMIM:274900 xref: OMIM:275200 xref: OMIM:607200 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: "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 xref: MSH:D012148 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0050426 name: Stevens-Johnson syndrome xref: MSH:D013262 is_a: DOID:37 ! skin disease [Term] id: DOID:0050427 name: xeroderma pigmentosum 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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA" EXACT [] synonym: "Thost-Unna Syndrome" EXACT [] synonym: "Tylosis" EXACT [] synonym: "Unna-Thost Syndrome" EXACT [] xref: MSH:D015776 xref: OMIM:600962 xref: OMIM:613000 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: "multiple endocrine neoplasia II" EXACT [] synonym: "multiple endocrine neoplasia type 2a" RELATED [] synonym: "Sipple syndrome" EXACT [] xref: MSH:D018813 xref: OMIM:171400 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0050431 name: arrhythmogenic right ventricular dysplasia comment: OMIM mapping confirmed by DO. [SN]. synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [] synonym: "ARVD" EXACT [] xref: MSH:D019571 xref: OMIM:107970 xref: OMIM:600996 xref: OMIM:604400 xref: OMIM:607450 xref: OMIM:609040 xref: OMIM:610193 xref: OMIM:610476 xref: OMIM:611528 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: OMIM mapping confirmed by DO. [SN]. xref: MSH:D020817 xref: OMIM:300494 xref: OMIM:300497 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 comment: OMIM mapping confirmed by DO. [LS]. xref: MSH:D052245 xref: OMIM:276900 xref: OMIM:276901 xref: OMIM:276902 xref: OMIM:276904 xref: OMIM:601067 xref: OMIM:602083 xref: OMIM:605472 xref: OMIM:606943 xref: OMIM:611383 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0050440 name: familial partial lipodystrophy comment: OMIM mapping confirmed by DO. [SN]. synonym: "Dunnigan Syndrome" EXACT [] synonym: "Koberling-Dunnigan Syndrome" EXACT [] xref: MSH:D052496 xref: OMIM:151660 xref: OMIM:604367 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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "WHITE SPONGE NEVUS" EXACT [] synonym: "White Sponge Nevus of Cannon" EXACT [] xref: MSH:D053529 xref: OMIM:193900 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 characterised 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 comment: OMIM mapping confirmed by DO. [SN]. xref: MSH:D054082 xref: OMIM:257320 xref: OMIM:300067 xref: OMIM:300215 xref: OMIM:607432 xref: OMIM:611603 is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:0050454 name: periventricular nodular heterotopia comment: OMIM mapping confirmed by DO. [SN]. xref: MSH:D054091 xref: OMIM:300049 xref: OMIM:300537 xref: OMIM:608097 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 is_a: DOID:37 ! skin 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:3211 ! lysosomal storage disease 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: OMIM mapping confirmed by DO. [SN]. xref: MSH:D055947 xref: OMIM:608967 xref: OMIM:609192 xref: OMIM:610168 xref: OMIM:610380 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 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 comment: OMIM 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: MSH:D056733 xref: OMIM:160980 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 comment: OMIM 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: MSH:D056846 xref: OMIM:277600 xref: OMIM:608328 xref: OMIM:613195 is_a: DOID:0050739 ! autosomal genetic disease [Term] id: DOID:0050476 name: Barth syndrome 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:0050735 ! X-linked disease [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 comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:138800 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: OMIM mapping confirmed by DO. [SN]. synonym: "MASON-TYPE DIABETES" EXACT [] synonym: "MODY" EXACT [] xref: OMIM:125850 xref: OMIM:125851 xref: OMIM:137920 xref: OMIM:600496 xref: OMIM:606392 xref: OMIM:606394 xref: OMIM:609812 xref: OMIM:610508 xref: OMIM:612225 xref: OMIM:613370 xref: OMIM:613375 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 comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:163500 xref: OMIM:257270 xref: OMIM:300071 xref: OMIM:310500 xref: OMIM:610427 xref: OMIM:610444 xref: OMIM:610445 xref: OMIM:613216 is_a: DOID:8499 ! night blindness [Term] id: DOID:0050535 name: exudative vitreoretinopathy comment: OMIM mapping confirmed by DO. [SN]. synonym: "familial exudative vitreoretinopathy" EXACT [] xref: OMIM:133780 xref: OMIM:305390 xref: OMIM:601813 xref: OMIM:613310 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: OMIM mapping confirmed by DO. [SN]. 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:608673 xref: OMIM:609260 xref: OMIM:613287 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: OMIM 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:609311 xref: OMIM:611228 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050542 name: Charcot-Marie-Tooth disease type X comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:302800 xref: OMIM:311070 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050543 name: Charcot-Marie-Tooth disease intermediate type comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:606482 xref: OMIM:607791 xref: OMIM:608323 xref: OMIM:608340 xref: OMIM:613641 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: OMIM mapping confirmed by DO. [SN]. synonym: "HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY" EXACT [] xref: OMIM:613752 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050545 name: visceral heterotaxy comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:306955 xref: OMIM:605376 xref: OMIM:613751 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 [Term] id: DOID:0050548 name: hereditary sensory neuropathy comment: OMIM 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:608654 xref: OMIM:613115 xref: OMIM:613640 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-Kaji syndrome 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 receessive 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: OMIM mapping confirmed by DO. [SN]. xref: OMIM:602771 xref: OMIM:606612 xref: OMIM:607855 xref: OMIM:608840 xref: OMIM:613204 xref: OMIM:613205 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: OMIM mapping confirmed by DO. [SN]. xref: OMIM:600625 xref: OMIM:608864 xref: OMIM:608874 xref: OMIM:613705 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: OMIM mapping confirmed by DO. [SN]. synonym: "JARCHO-LEVIN SYNDROME" EXACT [] synonym: "SPONDYLOTHORACIC DYSOSTOSIS" EXACT [] synonym: "SPONDYLOTHORACIC DYSPLASIA" EXACT [] xref: OMIM:277300 xref: OMIM:608681 xref: OMIM:609813 xref: OMIM:613686 is_a: DOID:1934 ! dysostosis [Term] id: DOID:0050569 name: Seckel syndrome comment: OMIM 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: OMIM:210600 xref: OMIM:613676 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]. 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 involve involve 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]. 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: OMIM mapping confirmed by DO. [SN]. synonym: "cone-rod retinal dystrophy" EXACT [] xref: OMIM:120970 xref: OMIM:304020 xref: OMIM:600977 xref: OMIM:601777 xref: OMIM:602093 xref: OMIM:603649 xref: OMIM:604116 xref: OMIM:608194 xref: OMIM:610283 xref: OMIM:610381 xref: OMIM:612657 xref: OMIM:612775 xref: OMIM:613660 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: OMIM mapping confirmed by DO. [SN]. synonym: "Loken Senior syndrome" EXACT [] synonym: "renal-retinal syndrome" EXACT [] xref: OMIM:266900 xref: OMIM:606996 xref: OMIM:609254 xref: OMIM:610189 xref: OMIM:613615 is_a: DOID:0050569 ! Seckel syndrome [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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "Milroy's disease" EXACT [] synonym: "Nonne-Milroy lymphedema" EXACT [] xref: OMIM:153100 xref: OMIM:613480 is_a: DOID:4977 ! lymphedema [Term] id: DOID:0050581 name: brachydactyly comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:112500 xref: OMIM:112600 xref: OMIM:113000 xref: OMIM:113100 xref: OMIM:113200 xref: OMIM:113300 xref: OMIM:611377 xref: OMIM:613382 is_a: DOID:0080015 ! physical disorder [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 xref: OMIM:613150 xref: OMIM:613151 xref: OMIM:613152 xref: OMIM:613153 xref: OMIM:613154 xref: OMIM:613155 xref: OMIM:613156 is_a: DOID:0050557 ! congenital muscular dystrophy [Term] id: DOID:0050589 name: inflammatory bowel disease comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:266600 xref: OMIM:611081 xref: OMIM:612244 xref: OMIM:612245 xref: OMIM:612261 xref: OMIM:612567 xref: OMIM:613148 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0050590 name: severe congenital neutropenia comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:202700 xref: OMIM:300299 xref: OMIM:610738 xref: OMIM:612541 xref: OMIM:613107 is_a: DOID:1227 ! neutropenia [Term] id: DOID:0050591 name: tooth agenesis synonym: "familial tooth agenesis" EXACT [] synonym: "HYPODONTIA/OLIGODONTIA" EXACT [] synonym: "selective tooth agenesis" EXACT [] xref: OMIM:106600 xref: OMIM:313500 xref: OMIM:604625 xref: OMIM:613097 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 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0050593 name: primary congenital glaucoma 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] 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: 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 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: "adenocarcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6017] synonym: "adenocarcinoma of paranasal sinus" RELATED [] synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6019] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [] synonym: "carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6014] synonym: "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 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 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 cancer 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 tah 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] synonym: "familial advanced sleep-phase syndrome" EXACT [] xref: OMIM:604348 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: OMIM mapping confirmed by DO. [SN]. synonym: "Cree encephalitis" EXACT [] synonym: "pseudo-TORCH syndrome" EXACT [] xref: OMIM:225750 xref: OMIM:610181 xref: OMIM:610329 xref: OMIM:610333 xref: OMIM:612952 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 comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:203100 xref: OMIM:203200 xref: OMIM:203290 xref: OMIM:606574 xref: OMIM:606952 is_a: DOID:0050736 ! autosomal dominant 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 comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:104290 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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "Amyloidosis, hereditary, transthyretin-related" EXACT [] xref: OMIM:105210 is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0050639 name: primary cutaneous amyloidosis comment: OMIM mapping confirmed by DO. [SN]. synonym: "familial primary localized cutaneous amyloidosis" EXACT [] xref: OMIM:105250 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 comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:206100 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: generalized arterial calcification of infancy comment: OMIM mapping confirmed by DO. [SN]. synonym: "IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION" EXACT [] xref: OMIM:208000 is_a: DOID:178 ! vascular disease [Term] id: DOID:0050645 name: arterial tortuosity syndrome comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:208050 is_a: DOID:178 ! vascular disease [Term] id: DOID:0050646 name: distal arthrogryposis comment: OMIM mapping confirmed by DO. [SN]. synonym: "Arthrogryposis Multiplex Congenita" EXACT [] synonym: "SHELDON-HALL SYNDROME" EXACT [] xref: OMIM:108120 xref: OMIM:193700 xref: OMIM:601680 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:0050647 name: Arts syndrome comment: OMIM mapping confirmed by DO. [SN]. 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] xref: OMIM:607554 xref: OMIM:611493 xref: OMIM:612201 xref: OMIM:612240 is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0050651 name: atrioventricular septal defect comment: OMIM mapping confirmed by DO. [SN]. synonym: "Atrioventricular canal defect" EXACT [] xref: OMIM:600309 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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "Best disease" EXACT [] synonym: "Best macular dystrophy" EXACT [] synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [] xref: OMIM:153700 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: OMIM mapping confirmed by DO. [SN]. xref: OMIM:214950 xref: OMIM:235555 xref: OMIM:607765 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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "ARTHROCUTANEOUVEAL GRANULOMATOSIS" EXACT [] synonym: "Jabs syndrome" EXACT [] xref: OMIM:186580 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0050679 name: blue cone monochromacy comment: OMIM mapping confirmed by DO. [SN]. synonym: "blue cone monochromatism" EXACT [] xref: OMIM:303700 is_a: DOID:0050735 ! X-linked disease [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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "BORJESON SYNDROME" EXACT [] 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 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 comment: OMIM mapping confirmed by DO. [SN]. synonym: "BRACHYRACHIA" EXACT [] xref: OMIM:113500 is_a: DOID:2256 ! osteochondrodysplasia created_by: snadendla creation_date: 2011-06-17T04:00:27Z [Term] id: DOID:0050691 name: branchiooculofacial syndrome comment: OMIM mapping confirmed by DO. [SN]. xref: OMIM:113620 is_a: DOID:0080015 ! physical disorder 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:9917 ! pleural cancer created_by: snadendla creation_date: 2011-06-27T09:57:44Z [Term] id: DOID:0050696 name: fetal alcohol spectrum disorder def: "A physical disorder that involves 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: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: is_obsolete: true created_by: lschriml creation_date: 2012-01-03T01:30:35Z [Term] id: DOID:0050700 name: cardiomyopathy def: "A heart disease that is characterized by deterioration of the funciton of the heart muscle." [url:http\://en.wikipedia.org/wiki/Cardiomyopathy] is_a: DOID:114 ! heart disease 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: neonatoal 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 occurrance of typical absence seizures startign 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 synonym: "Early Infantile Epileptic Encephalopathy " EXACT [] xref: OMIM:308350 is_a: DOID:0050702 ! neonatoal 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 [] xref: OMIM:612718 is_a: DOID:9252 ! amino acid metabolic disorder 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] synonym: "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT [] synonym: "fatal infantile Cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [] xref: OMIM:604377 is_a: DOID:700 ! mitochondrial metabolism disease created_by: lschriml creation_date: 2012-05-22T01:03:41Z [Term] id: DOID:0050714 name: alcaptonuria def: "An organic acidemia that has_material_basis_in an autosomal recessive mutation in the HGD (homogentisate 1,2-dioxygenase gene ) gene affecting the production of the homogentisate 1,2-dioxygenase enzyme resulting in the accumulation of homogentisic acid in the blood." [url:http\://en.wikipedia.org/wiki/Alcaptonuria] synonym: "alkaptonuria" EXACT [] xref: OMIM:203500 is_a: DOID:0060159 ! organic acidemia created_by: lschriml creation_date: 2012-05-23T03:00:40Z [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\: