# Disease(DOID) Name Definition Synonym DOID:0001816 angiosarcoma 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, url:http\://en.wikipedia.org/wiki/Hemangiosarcoma, url:http\://www.ncbi.nlm.nih.gov/pubmed/23327728] hemangiosarcoma EXACT [] DOID:0002116 pterygium surfer's eye EXACT [] DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules. [url:http\://www.ncbi.nlm.nih.gov/books/NBK22259/] metabolic disease EXACT [SNOMEDCT_2005_07_31:75934005] DOID:0050001 Actinomadura madurae infectious disease DOID:0050002 Actinomadura pelletieri infectious disease DOID:0050003 Streptomyces somaliensis infectious disease DOID:0050004 seminal vesicle acute gonorrhea DOID:0050007 cutaneous strongyloidiasis 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] DOID:0050009 intestinal strongyloidiasis 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] DOID:0050010 Mansonella perstans infectious disease 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] DOID:0050011 Mansonella streptocerca infectious disease 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] DOID:0050012 chikungunya 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] Chikungunya fever EXACT [] DOID:0050013 carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. [url:http\://www.nlm.nih.gov/medlineplus/metabolicdisorders.html] DOID:0050014 epizootic hemorrhagic disease 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] EHD RELATED [] DOID:0050015 Rocio virus encephalitis 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] DOID:0050024 Ehrlichia ewingii ehrlichiosis DOID:0050025 human granulocytic anaplasmosis 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] human granulocytic ehrlichiosis EXACT [] DOID:0050026 human monocytic ehrlichiosis 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] Ehrlichiosis chafeensis RELATED [] DOID:0050032 mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism. [url:http\://www.nlm.nih.gov/medlineplus/metabolicdisorders.html] DOID:0050035 African tick-bite fever 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] south african tick-bite fever EXACT [] DOID:0050041 Astrakhan spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [url:http\://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/otherspottedfever/index.html] DOID:0050042 Indian tick typhus 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] DOID:0050043 Israeli tick typhus 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] Israeli spotted fever RELATED [] DOID:0050046 Far Eastern spotted fever 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] Rickettsia heilongjiangensis spotted fever EXACT [] DOID:0050047 Flinders Island spotted fever 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] Thai tick typhus EXACT [] DOID:0050050 Japanese spotted fever 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] Rickettsia japonica spotted fever EXACT [] DOID:0050051 Rickettsia parkeri spotted fever 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] maculatum infection EXACT [] DOID:0050052 Rocky Mountain spotted fever 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] Tobia fever RELATED [] DOID:0050053 Rickettsia honei spotted fever DOID:0050059 oropharyngeal anthrax 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] DOID:0050061 erysipeloid 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/] DOID:0050063 abortive plague DOID:0050065 cutaneous listeriosis DOID:0050066 Listeria meningoencephalitis DOID:0050067 Listeria septicaemia DOID:0050068 pestis minor 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] DOID:0050069 Yersinia pestis infectious disease DOID:0050070 plague meningitis DOID:0050072 adiaspiromycosis 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] DOID:0050073 invasive aspergillosis 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] DOID:0050074 tonsillar aspergillosis An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. [url:http\://www.ncbi.nlm.nih.gov/pubmed/792373] DOID:0050075 pulmonary blastomycosis 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] DOID:0050078 cervix tuberculosis DOID:0050079 niacin deficiency DOID:0050080 iodine deficiency DOID:0050082 hepatic Torque teno virus infectious disease 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] TT virus liver infection EXACT [] DOID:0050083 Keshan disease DOID:0050084 obsolete rhinotracheitis 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] Feline viral rhinotracheitis EXACT [] DOID:0050085 entomophthoromycosis 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] DOID:0050086 cutaneous mucormycosis 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] DOID:0050088 gastrointestinal mucormycosis 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] DOID:0050089 pulmonary mucormycosis 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] DOID:0050090 rhinocerebral mucormycosis 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] DOID:0050091 disseminated paracoccidioidomycosis 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/] DOID:0050092 pulmonary paracoccidioidomycosis 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/] DOID:0050093 disseminated sporotrichosis 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] DOID:0050094 lymphocutaneous sporotrichosis 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/] DOID:0050095 pulmonary sporotrichosis 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] DOID:0050096 tinea barbae 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] dermatophytosis of beard EXACT [] DOID:0050097 ectothrix infectious disease 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] DOID:0050098 Microsporum audouinii tinea capitis 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] DOID:0050099 Microsporum canis tinea capitis 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] DOID:0050100 Microsporum distortum tinea capitis 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] DOID:0050101 Microsporum ferrugineum tinea capitis 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] DOID:0050102 Microsporum gypseum tinea capitis 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] DOID:0050103 Microsporum nanum tinea capitis 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] DOID:0050104 Trichophyton verrucosum tinea capitis 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] DOID:0050105 endothrix infectious disease 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/] DOID:0050106 Trichophyton soudanense tinea capitis 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] DOID:0050107 Trichophyton tonsurans tinea capitis 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] DOID:0050108 Trichophyton violaceum tinea capitis 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] DOID:0050110 Trichophyton schoenleinii tinea capitis 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] DOID:0050111 Microsporum fulvum tinea capitis 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] DOID:0050112 Trichophyton megninii tinea capitis 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] DOID:0050113 Trichophyton equinum tinea capitis 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] DOID:0050115 Trichophyton yaoundei tinea capitis 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] DOID:0050116 tinea imbricata 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] DOID:0050117 disease by infectious agent 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, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726] infectious disease EXACT [] DOID:0050118 La Crosse encephalitis 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] Neuroinvasive California encephalitis virus infection EXACT [SNOMEDCT_2005_07_31:417075004] DOID:0050119 West Nile virus neurological syndrome 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] WNNS EXACT [] DOID:0050120 hemophagocytic lymphohistiocytosis 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] HPS EXACT [] DOID:0050123 tuberculous encephalitis DOID:0050125 dengue shock syndrome 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] DSS EXACT [] DOID:0050126 Tahyna virus encephalitis 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/] valtice fever EXACT [] DOID:0050127 sinusitis 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, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null] DOID:0050129 secretory diarrhea 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] DOID:0050130 osmotic diarrhea 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] DOID:0050131 motility-related diarrhea 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] DOID:0050132 inflammatory diarrhea 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] DOID:0050133 superficial mycosis 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/] Steroid-modified tinea infection EXACT [SNOMEDCT_2005_07_31:238435009] DOID:0050134 cutaneous mycosis 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] DOID:0050135 subcutaneous mycosis 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/] DOID:0050136 systemic mycosis 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] DOID:0050138 podoconiosis DOID:0050139 Opisthorchis felineus infectious disease 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] DOID:0050140 acute diarrhea 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] DOID:0050141 intestinal botulism 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/] DOID:0050143 asymptomatic dengue 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] DOID:0050144 Kartagener syndrome A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. [url:http\://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797, url:http\://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/19529061, url:http\://www.ncbi.nlm.nih.gov/pubmed/23243352, url:http\://www.ncbi.nlm.nih.gov/pubmed/24019633, url:http\://www.ncbi.nlm.nih.gov/pubmed/25633235] Kartagener's syndrome EXACT [] DOID:0050145 adenoiditis 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] chronic adenoiditis EXACT [] DOID:0050146 autoimmune glomerulonephritis DOID:0050147 otomycosis 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] Singapore ear EXACT [] DOID:0050148 laryngotracheitis 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] DOID:0050150 Pontiac fever 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] DOID:0050151 tracheobronchial tuberculosis 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] DOID:0050152 aspiration pneumonia 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] DOID:0050153 pulmonary aspergilloma 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] DOID:0050154 mycoplasmal pneumonia A bacterial pneumonia caused by the genus Mycoplasma. [url:http\://en.wikipedia.org/wiki/Mycoplasma] DOID:0050155 sensory system disease A nervous 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] DOID:0050156 idiopathic pulmonary fibrosis An 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] IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL EXACT [] DOID:0050157 cryptogenic organizing pneumonia An 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\://chestjournal.chestpubs.org/content/102/1_Supplement/2S.long, 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] idiopathic bronchiolitis obliterans with organizing pneumonia EXACT [] DOID:0050158 desquamative interstitial pneumonia An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288, 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, url:http\://www.ncbi.nlm.nih.gov/pubmed/16142185, url:http\://www.ncbi.nlm.nih.gov/pubmed/16456642, url:http\://www.ncbi.nlm.nih.gov/pubmed/23001799] respiratory bronchiolitis-associated interstitial lung disease EXACT [] DOID:0050159 lymphoid interstitial pneumonia An 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] DOID:0050160 inhalation anthrax 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] woolsorters' disease EXACT [] DOID:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract. [url:http\://en.wikipedia.org/wiki/lower_respiratory_tract] DOID:0050162 influenza encephalopathy DOID:0050163 influenza myocarditis DOID:0050164 influenza myositis DOID:0050165 tuberculous mesenteric gland 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] DOID:0050166 tuberculous salpingitis 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] DOID:0050167 autoimmune polyendocrine syndrome type 1 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] Whitaker syndrom EXACT [] DOID:0050168 autoimmune polyendocrine syndrome type 2 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] Schmidt syndrome EXACT [] DOID:0050169 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. [sn:IEDB] DOID:0050170 Jamestown Canyon encephalitis 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] DOID:0050171 snowshoe hare encephalitis 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] DOID:0050172 trivittatus encephalitis 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] DOID:0050173 inkoo encephalitis 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] DOID:0050174 Kunjin encephalitis 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] DOID:0050175 tick-borne encephalitis 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] Western European tick-borne encephalitis EXACT [SNOMEDCT_2005_07_31:16901001] DOID:0050177 monogenic disease 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] DOID:0050178 complex genetic disease 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] DOID:0050179 Powassan encephalitis 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] DOID:0050180 Colorado tick fever encephalitis 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] DOID:0050181 Herpes simplex virus encephalitis 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] DOID:0050182 Varicella-zoster virus encephalitis 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] Varicella Zoster Encephalitis EXACT [MTH:NOCODE] DOID:0050183 Epstein-Barr virus encephalitis 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] DOID:0050184 Measles virus encephalitis 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/] postmeasles encephalitis EXACT [] DOID:0050185 erythema multiforme 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] DOID:0050186 Cytomegalovirus encephalitis 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] DOID:0050187 Rubella virus encephalitis 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] DOID:0050188 coxsackievirus encephalitis 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] DOID:0050189 polioencephalitis 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] DOID:0050190 adenovirus encephalitis 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] DOID:0050191 influenza virus encephalitis 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] DOID:0050192 Nipah virus encephalitis 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/] DOID:0050193 Lymphocytic choriomeningitis virus encephalitis 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] DOID:0050194 Argentine hemorrhagic fever 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] DOID:0050195 Bolivian hemorrhagic fever 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] DOID:0050196 Venezuelan hemorrhagic fever 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] DOID:0050197 Brazilian hemorrhagic fever 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] DOID:0050198 Chapare hemorrhagic fever 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] DOID:0050199 Whitewater Arroyo hemorrhagic fever 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] DOID:0050200 Korean hemorrhagic fever 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] DOID:0050201 nephropathia epidemica A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1349231, url:http\://www.ncbi.nlm.nih.gov/pubmed/2574903, url:http\://www.ncbi.nlm.nih.gov/pubmed/2902106] DOID:0050202 lujo hemorrhagic fever 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] DOID:0050203 Cytomegalovirus hepatitis 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] DOID:0050204 Epstein-Barr virus hepatitis 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] DOID:0050205 Herpes simplex virus hepatitis 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] DOID:0050206 adenovirus hepatitis 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] DOID:0050207 Rubella virus hepatitis 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] DOID:0050208 yellow fever hepatitis 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] DOID:0050209 Measles virus hepatitis 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] DOID:0050210 Varicella-zoster virus hepatitis 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] DOID:0050211 swine influenza 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] DOID:0050212 Campylobacter jejuni gastroenteritis 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] Campylobacter Gastroenteritis EXACT [NCI2004_11_17:C35162] DOID:0050213 Vibrio gastroenteritis 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] DOID:0050214 Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. [url:http\://emedicine.medscape.com/article/1170810-overview, url:http\://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome] LEMS EXACT [] DOID:0050215 Staphylococcus gastroenteritis 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/] Staphylococcus Aureus Gastroenteritis EXACT [NCI2004_11_17:C35036] DOID:0050216 Bacillus cereus gastroenteritis 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] DOID:0050217 Sapovirus gastroenteritis 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] DOID:0050218 polycystic echinococcosis 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] neotropical echinococcosis EXACT [] DOID:0050219 Hepeviridae infectious disease 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] DOID:0050220 Coxiella burnetii pneumonia 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] Q fever pneumonia EXACT [] DOID:0050221 Coxiella burnetii hepatitis 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] Q fever hepatitis EXACT [] DOID:0050222 selective IgM deficiency disease 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] DOID:0050223 candidal gastritis 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] DOID:0050224 Helicobacter heilmannii infectious disease 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] DOID:0050225 Histoplasma capsulatum gastritis 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] DOID:0050226 Morganella morganii intestinal infectious disease 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] DOID:0050227 Vibrio cholerae O139 cholera 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] DOID:0050228 amebic dysentery 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] Entamoeba histolytica dysentery EXACT [] DOID:0050229 Escherichia coli dysentery 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] DOID:0050230 intestinal capillariasis 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] DOID:0050231 hepatic capillariasis 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] DOID:0050232 pulmonary capillariasis 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] DOID:0050233 Balamuthia mandrillaris infectious disease 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] DOID:0050234 Acanthamoeba infectious disease 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] free-living ameba infectious disease EXACT [] DOID:0050235 Alveolata infectious disease A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. [url:http\://en.wikipedia.org/wiki/Alveolata] DOID:0050236 Heterolobosea infectious disease 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] DOID:0050237 Euglenozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. [url:http\://en.wikipedia.org/wiki/Euglenozoa] DOID:0050238 Parabasalia infectious disease A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. [url:http\://en.wikipedia.org/wiki/Parabasalid] DOID:0050239 Fornicata infectious disease 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] DOID:0050240 Trichomonadida infectious disease 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] DOID:0050241 Tritrichomonadida infectious disease 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] DOID:0050242 primary amebic meningoencephalitis 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] Naegleria fowleri infection EXACT [] DOID:0050243 Apicomplexa infectious disease 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] DOID:0050244 Coccidia infectious disease 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] DOID:0050245 Aconoidasida infectious disease An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. [url:http\://en.wikipedia.org/wiki/Aconoidasida] DOID:0050246 granulomatous amebic encephalitis 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] granulomatous amoebic encephalitis EXACT [] DOID:0050247 parasitic stramenopiles infectious disease 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] DOID:0050249 Brugia timori filariasis 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] DOID:0050250 philophthalmiasis 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] DOID:0050251 coenurosis 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] DOID:0050252 Dipylidium caninum infectious disease 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] DOID:0050253 mesocestoidiasis 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] DOID:0050254 acanthocephaliasis 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] DOID:0050255 Uncinaria stenocephala infectious disease 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] DOID:0050256 angiostrongyliasis 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] DOID:0050257 Angiostrongylus cantonensis infectious disease 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] DOID:0050258 Angiostrongylus costaricensis infectious disease 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] DOID:0050259 baylisascariasis 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] DOID:0050260 dioctophymiasis 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] DOID:0050261 thelaziasis 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] DOID:0050262 Acoelomata infectious disease 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] DOID:0050263 Pseudocoelomata infectious disease 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] DOID:0050264 Acanthocephala infectious disease 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] DOID:0050265 tick paralysis DOID:0050266 tungiasis 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] DOID:0050267 Ancylostoma caninum ancylostomiasis 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] DOID:0050268 ophthalmomyiasis 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] DOID:0050269 Trichomonas vaginalis trichomoniasis 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] urogenital trichomonas EXACT [] DOID:0050270 Trichomonas tenax trichomoniasis 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] DOID:0050271 cutaneous ascomycota mycosis 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] DOID:0050272 cutaneous basidiomycota mycosis 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] DOID:0050273 Neoscytalidium dimidiatum infectious disease 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] DOID:0050274 Scopulariopsis infectious disease 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] DOID:0050275 onychomycosis 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] DOID:0050276 subcutaneous ascomycota mycosis 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] DOID:0050277 subcutaneous fungi incertae sedis mycosis 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] DOID:0050278 basidiobolomycosis 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/] DOID:0050279 conidiobolomycosis 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/] DOID:0050280 superficial ascomycota mycosis 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] DOID:0050281 superficial basidiomycota mycosis 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] DOID:0050282 primary systemic ascomycota mycosis 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/] DOID:0050283 Stachybotrys infectious disease 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] DOID:0050284 opportunistic ascomycota mycosis 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/] DOID:0050285 opportunistic basidiomycota mycosis 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/] DOID:0050286 opportunistic fungi incertae sedis mycosis 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] DOID:0050287 opportunistic microsporidia mycosis 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/] DOID:0050288 penicilliosis 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] DOID:0050289 fusariosis 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] DOID:0050290 trichosporonosis 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] DOID:0050291 parasitic Ichthyosporea infectious disease 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] DOID:0050292 primary systemic mycosis 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/] DOID:0050293 Scopulariopsis brevicaulis infectious disease 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] DOID:0050294 Scytalidium hyalinum infectious disease 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] DOID:0050295 cutaneous sporotrichosis 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] plaque sporotrichosis EXACT [] DOID:0050296 Asfarviridae infectious disease 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] DOID:0050297 primary Francisellaceae infectious disease DOID:0050298 adenovirus infectious disease 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] Adenoviridae infectious disease EXACT [] DOID:0050299 Simplexvirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. [url:http\://en.wikipedia.org/wiki/Simplexvirus] DOID:0050300 Deltavirus infectious disease 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] DOID:0050301 Polyomaviridae infectious disease 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] DOID:0050302 Varicellovirus infectious disease 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] DOID:0050303 Hepacivirus infectious disease 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] DOID:0050304 aniseikonia DOID:0050305 Arteriviridae infectious disease 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] DOID:0050306 familial abdominal aortic aneurysm DOID:0050307 Bornaviridae infectious disease 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] DOID:0050308 Alkhurma hemorrhagic fever 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] DOID:0050309 Measles virus infectious disease 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] DOID:0050310 primary Listeriaceae infectious disease DOID:0050311 primary Helicobacteraceae infectious disease DOID:0050312 primary Campylobacteraceae infectious disease DOID:0050313 primary Brucellaceae infectious disease DOID:0050314 primary Erysipelotrichaceae infectious disease DOID:0050315 commensal Clostridiaceae infectious disease DOID:0050316 commensal Staphylococcaceae infectious disease DOID:0050317 commensal Streptococcaceae infectious disease DOID:0050318 primary Burkholderiaceae infectious disease DOID:0050319 primary Legionellaceae infectious disease DOID:0050320 commensal Alcaligenaceae infectious disease DOID:0050321 opportunistic Pseudomonadaceae infectious disease DOID:0050322 primary Vibrionaceae infectious disease DOID:0050323 primary Coxiellaceae infectious disease DOID:0050324 physical disorder OBSOLETED TERM 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] DOID:0050325 genetic disorder 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] DOID:0050327 peripheral dysostosis Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation EXACT [] DOID:0050328 congenital hypothyroidism A hypothyroidism that is present at birth. [url:http\://en.wikipedia.org/wiki/Congenital_hypothyroidism, url:http\://ghr.nlm.nih.gov/condition/congenital-hypothyroidism] cretinism EXACT [CSP2005:2928-6883] DOID:0050329 mental disorder 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] DOID:0050331 LADD syndrome 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] LEVY-HOLLISTER SYNDROME EXACT [] DOID:0050332 enlarged vestibular aqueduct DOID:0050333 congenital anosmia DOID:0050334 thiourea tasting PROPYLTHIOURACIL TASTING, INCLUDED EXACT [] DOID:0050335 bradyopsia A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes. [PMID:17826834, url:http\://ghr.nlm.nih.gov/condition/bradyopsia] prolonged electroretinal response suppression EXACT [] DOID:0050336 hypophosphatemia DOID:0050337 Burkholderia cepacia infectious disease DOID:0050338 primary bacterial infectious disease 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] DOID:0050339 commensal bacterial infectious disease 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] DOID:0050340 opportunistic bacterial infectious disease 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] DOID:0050341 opportunistic Actinomycetales infectious disease DOID:0050342 commensal Actinomycetales infectious disease 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] DOID:0050343 Gardnerella vaginalis vaginosis DOID:0050344 commensal Bifidobacteriaceae infectious disease DOID:0050345 primary Thermomonosporaceae infectious disease DOID:0050346 primary Corynebacteriaceae infectious disease DOID:0050347 primary Mycobacteriaceae infectious disease DOID:0050348 primary Streptomycetaceae infectious disease DOID:0050349 opportunistic Nocardiaceae infectious disease DOID:0050350 primary Clostridiaceae infectious disease DOID:0050351 primary Clostridium infectious disease DOID:0050352 foodborne botulism 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] DOID:0050353 wound botulism 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/] DOID:0050354 infant botulism 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] DOID:0050355 opportunistic Burkholderiaceae infectious disease DOID:0050357 Burkholderia cenocepacia infectious disease DOID:0050358 commensal Chlamydiaceae infectious disease DOID:0050359 Bilophila wadsworthia necrotizing fasciitis DOID:0050360 commensal Enterobacteriaceae infectious disease DOID:0050361 opportunistic Enterobacteriaceae infectious disease DOID:0050362 Elizabethkingia meningoseptica infectious disease DOID:0050363 Capnocytophaga canimorsus infectious disease DOID:0050364 opportunistic Flavobacteriaceae infectious disease DOID:0050365 Chryseobacterium indologenes infectious disease DOID:0050366 Empedobacter brevis endophthalmitis DOID:0050367 Myroides odoratus necrotizing fasciitis DOID:0050368 commensal Fusobacteriaceae infectious disease DOID:0050369 primary Mycoplasmataceae infectious disease DOID:0050370 commensal Neisseriaceae infectious disease DOID:0050371 commensal Pasteurellaceae infectious disease DOID:0050372 commensal Haemophilus infectious disease DOID:0050373 Leptospiraceae infectious disease DOID:0050374 Spirochaetaceae infectious disease DOID:0050375 primary Spirillaceae infectious disease DOID:0050376 anaplasmosis DOID:0050377 Burkholderia cepacia complex infectious disease DOID:0050378 opportunistic Campylobacteraceae infectious disease DOID:0050379 Campylobacter fetus infectious disease DOID:0050380 Campylobacter coli infectious disease DOID:0050381 Chlamydia trachomatis epididymitis DOID:0050382 glandular tularemia A tularemia that results_in swelling of regional lymph glands. [url:http\://www.cdc.gov/tularemia/signssymptoms/] DOID:0050383 typhoidal tularemia 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] DOID:0050384 commensal Helicobacteraceae infectious disease DOID:0050385 commensal Helicobacter infectious disease DOID:0050386 Acinetobacter baumannii pneumonia DOID:0050387 nonpapillary renal cell carcinoma DOID:0050388 Bacteroides fragilis peritonitis DOID:0050389 Capnocytophaga canimorsus meningitis DOID:0050390 Capnocytophaga canimorsus endocarditis DOID:0050391 Elizabethkingia meningoseptica meningitis DOID:0050392 streptococcal necrotizing fasciitis DOID:0050393 Chryseobacterium indologenes pneumonia DOID:0050394 nocardial pneumonia DOID:0050395 nocardial cellulitis DOID:0050396 nocardial keratitis DOID:0050397 cerebral Bilophila wadsworthia infectious disease DOID:0050398 Carrion's Disease A bartonellosis 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] oroya fever EXACT [] DOID:0050399 Bordetella pertussis whooping cough DOID:0050400 Pseudomonas urinary tract infectious disease DOID:0050401 Pseudomonas endocarditis DOID:0050402 Pseudomonas keratitis DOID:0050403 commensal Mycoplasmatales infectious disease DOID:0050404 commensal Mycoplasmataceae infectious disease DOID:0050405 Mycoplasma genitalium urethritis DOID:0050406 Yersinia pseudotuberculosis mesenteric lymphadenitis DOID:0050407 commensal Mycoplasma infectious disease DOID:0050408 Staphylococcus aureus ecthyma DOID:0050409 Streptococcus pyogenes ecthyma DOID:0050410 streptococcal erysipelas DOID:0050411 Staphylococcus aureus erysipelas DOID:0050412 Streptococcus impetigo DOID:0050413 Staphylococcus aureus impetigo DOID:0050414 Streptococcus lymphangitis DOID:0050415 Staphylococcus aureus lymphangitis DOID:0050416 Streptococcus agalactiae meningitis DOID:0050417 Streptococcus equisimilis meningitis Streptococcus dysgalactiae subsp. equisimilis meningitis EXACT [] DOID:0050418 Streptococcus zooepidemicus meningitis Streptococcus equi subsp. zooepidemicus meningitis EXACT [] DOID:0050419 complement factor I deficiency COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY EXACT [] DOID:0050420 primary Streptococcaceae infectious disease DOID:0050421 primary streptococcal infectious disease DOID:0050422 Yersinia pseudotuberculosis gastroenteritis DOID:0050423 enteroaggregative Escherichia coli infectious disease enteroaggregative E.coli infection EXACT [] DOID:0050424 familial adenomatous polyposis 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] adenomatous polyposis of the colon EXACT [] DOID:0050425 restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. [url:http\://en.wikipedia.org/wiki/Restless_legs_syndrome, url:http\://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm] Wittmaack-Ekbom syndrome EXACT [] DOID:0050426 Stevens-Johnson syndrome DOID:0050427 xeroderma pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. [url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract] DOID:0050428 nonepidermolytic palmoplantar keratoderma A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma] Unna-Thost Syndrome EXACT [] DOID:0050429 Hailey-Hailey disease Pemphigus, Benign Familial EXACT [] DOID:0050430 multiple endocrine neoplasia type 2A An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. [url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract] Sipple syndrome EXACT [] DOID:0050431 arrhythmogenic right ventricular cardiomyopathy An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. [url:http\://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia, url:http\://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy, url:http\://my.clevelandclinic.org/services/heart/disorders/arvd, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html] ARVD EXACT [] DOID:0050432 Asperger syndrome 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] DOID:0050433 fatal familial insomnia DOID:0050434 Andersen-Tawil syndrome 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] Long QT syndrome 7 EXACT [] DOID:0050436 mulibrey nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE EXACT [] DOID:0050437 Danon disease PSEUDOGLYCOGENOSIS II EXACT [] DOID:0050438 Frasier syndrome DOID:0050439 Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment. [url:http\://en.wikipedia.org/wiki/Usher_syndrome] DOID:0050440 familial partial lipodystrophy A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. [url:http\://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, url:http\://omim.org/entry/608600] Koberling-Dunnigan Syndrome EXACT [] DOID:0050441 mucosulfatidosis Sulfatidosis, Juvenile, Austin Type EXACT [] DOID:0050444 infantile refsum disease INFANTILE PHYTANIC ACID STORAGE DISEASE EXACT [] DOID:0050445 X-linked hypophosphatemic rickets A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [url:http\://emedicine.medscape.com/article/922305-overview, url:http\://en.wikipedia.org/wiki/X-linked_hypophosphatemia, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11911&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&title=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&search=Disease_Search_Simple] X-linked hypophosphatemia EXACT [] DOID:0050448 hereditary mucosal leukokeratosis A skin disease characterized by a defect in the normal process of keratinization of the mucosa. [url:http\://en.wikipedia.org/wiki/White_sponge_nevus, url:http\://omim.org/entry/193900] white sponge nevus of Cannon EXACT [] DOID:0050449 pachyonychia congenita PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE EXACT [] DOID:0050450 Gitelman syndrome HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA EXACT [] DOID:0050451 Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [url:http\://en.wikipedia.org/wiki/Brugada_syndrome] DOID:0050452 mevalonic aciduria Mevalonate Kinase Deficiency EXACT [] DOID:0050453 lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. [url:http\://en.wikipedia.org/wiki/Lissencephaly, url:http\://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm] DOID:0050454 periventricular nodular heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. [url:http\://ghr.nlm.nih.gov/condition/periventricular-heterotopia] periventricular heterotopia EXACT [] DOID:0050455 arachnodactyly DOID:0050456 Buruli ulcer disease 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/] Searle's ulcer EXACT [] DOID:0050457 Sertoli cell-only syndrome Germinal Cell Aplasia EXACT [] DOID:0050458 juvenile myelomonocytic leukemia DOID:0050459 hyperphosphatemia DOID:0050460 Wolf-Hirschhorn syndrome Pitt-Rogers-Danks Syndrome EXACT [] DOID:0050461 aspartylglucosaminuria GLYCOSYLASPARAGINASE DEFICIENCY EXACT [] DOID:0050462 Antley-Bixler syndrome 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] trapezoidocephaly-synostosis syndrome EXACT [] DOID:0050463 campomelic dysplasia 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] Acampomelic Campomelic Dysplasia EXACT [] DOID:0050464 Farber lipogranulomatosis N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY EXACT [] DOID:0050465 Muir-Torre syndrome DOID:0050466 Loeys-Dietz syndrome DOID:0050467 erythrokeratodermia variabilis Greither Disease EXACT [] DOID:0050468 yellow nail syndrome A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. [url:http\://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract] DOID:0050469 Costello syndrome FCS SYNDROME EXACT [] DOID:0050470 Donohue Syndrome Leprechaunism EXACT [] DOID:0050471 Carney complex An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [url:http\://en.wikipedia.org/wiki/Carney_complex, url:http\://ghr.nlm.nih.gov/condition/carney-complex] NAME Syndrome EXACT [] DOID:0050472 monilethrix DOID:0050473 Alstrom syndrome 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] DOID:0050474 Netherton syndrome DOID:0050475 Weill-Marchesani syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome] Spherophakia Brachymorphia Syndrome EXACT [] DOID:0050476 Barth syndrome A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [url:http\://en.wikipedia.org/wiki/Barth_syndrome, url:http\://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, url:http\://www.ninds.nih.gov/disorders/barth/barth.htm, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract] MGA type II EXACT [] DOID:0050477 Liddle syndrome Pseudoaldosteronism EXACT [] DOID:0050478 primary Escherichia coli infectious disease DOID:0050479 commensal Klebsiella infectious disease Klebsiella infection EXACT [CSP2005:0368-2705] DOID:0050480 epidemic typhus 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] sylvatic typhus EXACT [] DOID:0050481 endemic typhus 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] Urban Typhus of Malaya EXACT [] DOID:0050482 lymphangitis-associated rickettsiosis DOID:0050483 Rickettsia aeschlimannii spotted fever DOID:0050484 aneruptive fever 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] Rickettsia helvetica spotted fever EXACT [] DOID:0050485 sennetsu fever 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] Sennetsu ehrlichiosis EXACT [] DOID:0050486 exanthem Rash EXACT [] DOID:0050487 bacterial exanthem DOID:0050488 early congenital syphilis 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] DOID:0050489 multinodular goiter A goiter characterized by a multinodular enlargement of the thyroid gland. [url:http\://en.wikipedia.org/wiki/Multinodular_goitre] DOID:0050490 parenchymatous neurosyphilis 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] DOID:0050491 meningovascular neurosyphilis 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] DOID:0050492 tertiary syphilitic encephalitis DOID:0050493 tertiary syphilitic meningitis DOID:0050494 Papillomaviridae infectious disease 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] DOID:0050495 exanthema subitum 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] Sixth Disease EXACT [] DOID:0050496 Banna virus encephalitis 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] DOID:0050497 Anelloviridae infectious disease A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. [url:http\://en.wikipedia.org/wiki/Anelloviridae] DOID:0050498 dsDNA virus infectious disease 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] dsDNA virus infection EXACT [] DOID:0050499 ssDNA virus infectious disease 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] ssDNA virus infection EXACT [] DOID:0050500 dsDNA-RT virus infectious disease 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] dsDNA-RT virus infection EXACT [] DOID:0050501 dsRNA virus infectious disease 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] dsRNA virus infection EXACT [] DOID:0050502 (+)ssRNA virus infectious disease 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] positive-sense ssRNA virus infectious disease EXACT [] DOID:0050503 (-)ssRNA virus infectious disease 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] negative-sense ssRNA virus infectious disease EXACT [] DOID:0050504 ssRNA-RT virus infectious disease 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] ssRNA-RT virus infection EXACT [] DOID:0050505 human papilloma virus related anal squamous cell carcinoma 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] DOID:0050506 human papilloma virus related vaginal squamous cell carcinoma 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] DOID:0050507 AIDS-related cryptosporidiosis DOID:0050508 variola major 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/] DOID:0050509 AIDS-related toxoplasmosis DOID:0050510 AIDS-related cystoisosporiasis AIDS-related isosporiasis EXACT [] DOID:0050511 Human torovirus gastroenteritis 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] DOID:0050512 Saffold virus gastroenteritis 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] DOID:0050513 spinal polio 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] DOID:0050514 bulbospinal polio 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] DOID:0050515 paralytic poliomyelitis 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] DOID:0050516 O'nyong'nyong fever 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] DOID:0050517 Barmah Forest virus disease 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] DOID:0050518 Ross River fever 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] Ross River virus disease EXACT [] DOID:0050519 Lymphocytic choriomeningitis virus meningitis 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] DOID:0050520 Lymphocytic choriomeningitis virus meningoencephalitis 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] DOID:0050521 Oropouche fever 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] DOID:0050522 Balkan hemorrhagic fever 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] DOID:0050523 adult T-cell leukemia 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, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184] Adult T-cell leukemia/lymphoma EXACT [] DOID:0050524 maturity-onset diabetes of the young 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] MODY EXACT [] DOID:0050525 acroosteolysis Acroosteolysis syndrome RELATED [SNOMEDCT_2005_07_31:27201004] DOID:0050526 Gamstorp-Wohlfart syndrome A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia] myokymia, myotonia and muscle wasting EXACT [] DOID:0050527 familial hypertriglyceridemia 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] Pure hyperglyceridemia EXACT [] DOID:0050528 nonphotosensitive trichothiodystrophy HAIR-BRAIN SYNDROME EXACT [] DOID:0050529 adult spinal muscular atrophy SPINAL MUSCULAR ATROPHY, TYPE IV EXACT [] DOID:0050530 intermediate spinal muscular atrophy MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE EXACT [] DOID:0050531 lentiginosis profusa LENTIGINOSIS, INHERITED PATTERNED EXACT [] DOID:0050532 epidermal nevus PIGMENTED MOLES EXACT [] DOID:0050533 soldiers heart ORTHOSTATIC INTOLERANCE EXACT [] DOID:0050534 congenital stationary night blindness A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215] congenital essential nyctalopia EXACT [] DOID:0050535 exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. [url:http\://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy, url:http\://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy] FEVR EXACT [] DOID:0050536 SC phocomelia syndrome SC PSEUDOTHALIDOMIDE SYNDROME EXACT [] DOID:0050537 posterior polar cataract CATARACT, POSTERIOR POLAR EXACT [] DOID:0050538 Charcot-Marie-Tooth disease type 1 A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] hereditary motor and sensory neuropathy type 1 EXACT [] DOID:0050539 Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [url:http\://www.ncbi.nlm.nih.gov/pubmed/25098539, url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] hereditary motor and sensory neuropathy type 2 EXACT [] DOID:0050540 Charcot-Marie-Tooth disease type 3 DEJERINE-SOTTAS SYNDROME EXACT [] DOID:0050541 Charcot-Marie-Tooth disease type 4 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] spinal CMT EXACT [] DOID:0050542 Charcot-Marie-Tooth disease type X A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] COWCK EXACT [] DOID:0050543 Charcot-Marie-Tooth disease intermediate type A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16775371, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114] Charcot-Marie-Tooth disease recessive intermediate EXACT [] DOID:0050544 hypermethioninemia 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] hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency EXACT [] DOID:0050545 visceral heterotaxy A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. [url:http\://en.wikipedia.org/wiki/Situs_ambiguus] situs ambiguus EXACT [] DOID:0050546 congenital adrenal insufficiency P450scc DEFICIENCY EXACT [] DOID:0050547 familial medullary thyroid carcinoma A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance. [] THYROID CARCINOMA, FAMILIAL MEDULLARY EXACT [] DOID:0050548 hereditary sensory neuropathy A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [url:http\://omim.org/entry/616488?search=616488&highlight=616488] hereditary sensory and autonomic neuropathy EXACT [] DOID:0050549 Saldino-Noonan syndrome type I short rib polydactyly syndrome EXACT [] DOID:0050550 Majewski syndrome type II short rib-polydactyly syndrome EXACT [] DOID:0050551 Verma-Naumoff syndrome type III short rib-polydactyly syndrome EXACT [] DOID:0050553 JMP syndrome An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. [url:http\://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf, url:http\://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php] JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY EXACT [] DOID:0050554 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia and ataxia EXACT [] DOID:0050556 infantile onset spinocerebellar ataxia OHAHA SYNDROME EXACT [] DOID:0050557 congenital muscular dystrophy 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] DOID:0050558 Ullrich congenital muscular dystrophy Ullrich scleroatonic muscular dystrophy EXACT [] DOID:0050559 Fukuyama congenital muscular dystrophy DOID:0050560 Walker-Warburg syndrome HARD syndrome EXACT [] DOID:0050561 Lennox-Gastaut syndrome Lennox syndrome EXACT [] DOID:0050562 West syndrome DOID:0050563 nonsyndromic deafness 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] nonsyndromic hereditary hearing loss EXACT [] DOID:0050564 autosomal dominant nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] autosomal dominant deafness EXACT [] DOID:0050565 autosomal recessive nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] autosomal recessive deafness EXACT [] DOID:0050566 X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] X-linked deafness EXACT [] DOID:0050567 orofacial cleft DOID:0050568 spondylocostal dysostosis 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] spondylothoracic dysplasia EXACT [] DOID:0050569 Seckel syndrome An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [url:http\://en.wikipedia.org/wiki/Seckel_syndrome] Virchow-Seckel dwarfism EXACT [] DOID:0050570 congenital disorder of glycosylation type I 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] SRD5A3-CDG (CDG-1q) EXACT [] DOID:0050571 congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] MOGS-CDG (CDG-2b) EXACT [] DOID:0050572 cone-rod dystrophy A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. [url:http\://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy] cone-rod retinal dystrophy EXACT [] DOID:0050573 2-hydroxyglutaric aciduria 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] DOID:0050574 L-2-hydroxyglutaric aciduria 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] L-2-HYDROXYGLUTARIC ACIDEMIA EXACT [] DOID:0050575 D-2-hydroxyglutaric aciduria 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] DOID:0050576 Senior-Loken syndrome 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] renal-retinal syndrome EXACT [] DOID:0050577 Sensenbrenner syndrome Levin syndrome EXACT [] DOID:0050578 occult macular dystrophy 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] DOID:0050579 glycogen storage disease XV glycogen storage disease type XV EXACT [] DOID:0050580 hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. [url:http\://en.wikipedia.org/wiki/Milroy%27s_disease] Nonne-Milroy lymphedema EXACT [] DOID:0050581 brachydactyly A bone development disease characterized by short fingers and toes. [url:http\://en.wikipedia.org/wiki/Brachydactyly] DOID:0050583 Chlamydophila pneumoniae infectious disease DOID:0050584 gummatous syphilis 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] DOID:0050585 congenital generalized lipodystrophy Beradinelli-Seip syndrome EXACT [] DOID:0050587 trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair. [url:http\://www.forensicpsychiatry.ca/impulse/trich.htm] DOID:0050588 muscular dystrophy-dystroglycanopathy CMD due to dystroglycanopathy EXACT [ORDO:370953] DOID:0050589 inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract. [url:http\://en.wikipedia.org/wiki/Inflammatory_bowel_disease, url:http\://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908] DOID:0050590 severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. [url:http\://www.ncbi.nlm.nih.gov/pubmed/17133096] DOID:0050591 tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth. [url:http\://en.wikipedia.org/wiki/Hypodontia] selective tooth agenesis EXACT [] DOID:0050592 asphyxiating thoracic dystrophy Jeune syndrome EXACT [] DOID:0050593 primary congenital glaucoma DOID:0050594 glycogen storage disease IX DOID:0050595 mucormycosis DOID:0050596 taeniasis 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] Taenia saginata infectious disease RELATED [] DOID:0050597 intestinal schistosomiasis 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] schistosomiasis japonica EXACT [] DOID:0050598 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] DOID:0050599 abdominal tuberculosis 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] DOID:0050600 ABCD syndrome 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] ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS EXACT [] DOID:0050601 ADULT syndrome 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] acro-dermato-ungual-lacrimal-tooth syndrome EXACT [] DOID:0050602 triple-A syndrome Allgrove Syndrome EXACT [] DOID:0050603 acheiropody Horn-Kolb Syndrome EXACT [] DOID:0050604 acrocapitofemoral dysplasia DOID:0050605 acrodermatitis enteropathica DOID:0050606 acrokeratosis verruciformis Hopf disease EXACT [] DOID:0050608 Askin's tumor Askin tumor EXACT [] DOID:0050610 oral cavity carcinoma in situ DOID:0050611 pharynx carcinoma in situ DOID:0050612 gall bladder carcinoma in situ DOID:0050613 bile duct carcinoma in situ DOID:0050614 bronchus carcinoma in situ DOID:0050615 respiratory system cancer 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] DOID:0050616 malignant Leydig cell tumor malignant Leydig cell neoplasm EXACT [NCI2004_11_17:C4213] DOID:0050617 malignant Sertoli cell tumor DOID:0050618 malignant Sertoli-Leydig cell tumor DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1] squamous cell carcinoma of paranasal sinus RELATED [] DOID:0050620 infiltrating renal pelvis transitional cell carcinoma DOID:0050621 respiratory system benign neoplasm 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] DOID:0050622 reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs. [url:http\://en.wikipedia.org/wiki/Reproductive_system] DOID:0050623 bladder benign neoplasm DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] DOID:0050625 biliary tract neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract] tumor of the extrahepatic bile duct EXACT [NCI2004_11_17:C4441] DOID:0050626 gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. [url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] malignant gastrointestinal neuroendocrine tumor EXACT [] DOID:0050628 advanced sleep phase syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [url:http\://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome] familial advanced sleep-phase syndrome EXACT [] DOID:0050629 Aicardi-Goutieres syndrome 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/] Cree encephalitis EXACT [] DOID:0050630 Aland Island eye disease FORSIUS-ERIKSSON TYPE OCULAR ALBINISM EXACT [] DOID:0050631 Allan-Herndon-Dudley syndrome 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] ALLAN-HERNDON SYNDROME EXACT [] DOID:0050632 oculocutaneous albinism An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. [url:en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism] DOID:0050633 ocular albinism DOID:0050634 alopecia universalis ALOPECIA UNIVERSALIS CONGENITA EXACT [] DOID:0050635 alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. [url:http\://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood, url:http\://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood] AHC EXACT [] DOID:0050636 familial visceral amyloidosis systemic nonneuropathic amyloidosis EXACT [] DOID:0050637 Finnish type amyloidosis AMYLOIDOSIS, MERETOJA TYPE EXACT [] DOID:0050638 transthyretin amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [url:http\://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, url:http\://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=19372706, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451] TTR amyloidosis EXACT [] DOID:0050639 primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. [url:http\://www.ncbi.nlm.nih.gov/pubmed/19663869] PCA EXACT [] DOID:0050640 anauxetic dysplasia DOID:0050641 Rh deficiency syndrome DOID:0050642 hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells. [url:http\://en.wikipedia.org/wiki/Hypochromic_anemia] DOID:0050643 anonychia congenita HYPONYCHIA CONGENITA EXACT [] DOID:0050644 arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. [url:http\://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification, url:http\://www.omim.org/entry/208000] infantile arteriosclerosis EXACT [] DOID:0050645 arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome] DOID:0050646 distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. [url:http\://en.wikipedia.org/wiki/Arthrogryposis] Sheldon-Hall syndrome EXACT [] DOID:0050647 Arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [url:http\://ghr.nlm.nih.gov/condition/arts-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK2591/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301738, url:http\://www.omim.org/entry/301835, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN] Lethal ataxia with deafness and optic atrophy EXACT [] DOID:0050648 atelosteogenesis DOID:0050649 atransferrinemia familial hypotransferrinemia EXACT [] DOID:0050650 familial atrial fibrillation An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. [url:http\://en.wikipedia.org/wiki/Familial_atrial_fibrillation] ATFB EXACT [] DOID:0050651 atrioventricular septal defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html] endocardial cushion defect EXACT [] DOID:0050652 soft tissue cancer DOID:0050653 dysplastic nevus nevus of Clark EXACT [] DOID:0050654 Baller-Gerold syndrome A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. [url:http\://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome, url:http\://ghr.nlm.nih.gov/condition/baller-gerold-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1204/] DOID:0050655 Bamforth-Lazarus syndrome HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE EXACT [] DOID:0050656 pseudo-TORCH syndrome band-like calcification with simplified gyration and polymicrogyria EXACT [] DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome RUVALCABA-MYHRE-SMITH SYNDROME EXACT [] DOID:0050658 Bart-Pumphrey syndrome KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS EXACT [] DOID:0050659 biotin-responsive basal ganglia disease DOID:0050660 Beare-Stevenson cutis gyrata syndrome DOID:0050661 vitelliform macular dystrophy A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. [url:http\://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy] juvenile-onset vitelliform macular dystrophy EXACT [] DOID:0050662 bestrophinopathy autosomal recessive bestrophinopathy EXACT [] DOID:0050663 Bethlem myopathy benign congenital muscular dystrophy EXACT [] DOID:0050664 Bietti crystalline corneoretinal dystrophy Bietti's crystalline dystrophy EXACT [] DOID:0050665 fetal alcohol syndrome 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] DOID:0050666 partial fetal alcohol syndrome 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] DOID:0050667 alcohol-related neurodevelopmental disorder 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] static encephalopathy EXACT [] DOID:0050668 alcohol-related birth defect 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] ARBD EXACT [] DOID:0050669 spastic cerebral palsy 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] DOID:0050670 ataxic cerebral palsy 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] hypotonic cerebral palsy EXACT [] DOID:0050671 female breast cancer DOID:0050672 dyskinetic cerebral palsy 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] Athetoid Dyskinetic Cerebral Palsy EXACT [] DOID:0050673 mixed cerebral palsy 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] DOID:0050674 congenital bile acid synthesis defect cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency EXACT [] DOID:0050675 Birk-Barel syndrome BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME EXACT [] DOID:0050676 Birt-Hogg-Dube syndrome DOID:0050677 Bjornstad syndrome DOID:0050678 Blau syndrome An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. [url:http\://en.wikipedia.org/wiki/Blau_syndrome, url:http\://www.omim.org/entry/186580?search=186580&highlight=186580] Jabs syndrome EXACT [] DOID:0050679 blue cone monochromacy An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. [url:http\://omim.org/entry/303700, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16] DOID:0050680 Boomerang dysplasia DOID:0050681 Borjeson-Forssman-Lehmann syndrome An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [url:http\://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, url:http\://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html] BORJESON SYNDROME EXACT [] DOID:0050682 Athabaskan brainstem dysgenesis syndrome NAVAJO BRAINSTEM SYNDROME EXACT [] DOID:0050683 Bothnia retinal dystrophy Vasterbotten dystrophy EXACT [] DOID:0050684 Bowen-Conradi syndrome DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. [url:http\://en.wikipedia.org/wiki/Small_cell_carcinoma] Small cell carcinoma, intermediate cell (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:5958006] DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in. [url:http\://cancerguide.org/basic.html] DOID:0050687 cell type cancer 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] DOID:0050688 anal canal cancer A large intestine cancer that is located_in the terminal part of the large intestine. [url:http\://en.wikipedia.org/wiki/Anal_canal] DOID:0050689 brachydactyly-syndactyly syndrome DOID:0050690 brachyolmia An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. [url:http\://www.ncbi.nlm.nih.gov/pubmed/10968486] brachyrachia EXACT [] DOID:0050691 branchiooculofacial syndrome An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. [url:http\://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK55063/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract] DOID:0050692 Brody myopathy DOID:0050693 Brooke-Spiegler syndrome DOID:0050694 Brown-Vialetto-Van Laere syndrome DOID:0050695 malignant pleural solitary fibrous tumor DOID:0050696 fetal alcohol spectrum disorder A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://www.cdc.gov/ncbddd/fasd/facts.html] DOID:0050697 chorioamnionitis 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] DOID:0050698 funisitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. [url:http\://en.wikipedia.org/wiki/Funisitis] DOID:0050699 Dent disease A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. [url:http\://en.wikipedia.org/wiki/Dent%27s_disease, url:http\://ghr.nlm.nih.gov/condition/dent-disease, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652] Dent's disease EXACT [] DOID:0050700 cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/] Cardiomyopathies EXACT [MSH:D009202] DOID:0050701 electroclinical syndrome 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] electro-clinical syndrome EXACT [] DOID:0050702 neonatal period electroclinical syndrome 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] DOID:0050703 infancy electroclinical syndrome 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] DOID:0050704 childhood electroclinical syndrome 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] DOID:0050705 adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood. [JA:Epilepsy_Genetics_Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795] DOID:0050706 variable age at onset electroclinical syndrome DOID:0050707 nonsyndromic epilepsy DOID:0050708 early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org] DOID:0050709 Ohtahara syndrome A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. [url:http\://en.wikipedia.org/wiki/Ohtahara_syndrome, url:http\://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm] EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 EXACT [] DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency 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] BMCC deficiency EXACT [] DOID:0050711 aceruloplasminemia 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] DOID:0050712 AGAT deficiency 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] CEREBRAL CREATINE DEFICIENCY SYNDROME 3 EXACT [] DOID:0050713 fatal infantile encephalocardiomyopathy 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] fatal infantile COX deficiency EXACT [] DOID:0050715 methylmalonic aciduria and homocystinuria type cblC 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] Cobalamin C deficiency EXACT [] DOID:0050716 methylmalonic aciduria and homocystinuria type cblD 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] Cobalamin D deficiency EXACT [] DOID:0050717 methylmalonic aciduria and homocystinuria type cblF 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] Cobalamin F deficiency EXACT [] DOID:0050718 vitamin metabolic disorder 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] DOID:0050719 cerebral folate receptor alpha deficiency 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] DOID:0050720 ornithine translocase deficiency 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] Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome EXACT [] DOID:0050721 serine deficiency 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] DOID:0050722 PHGDH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. [url:http\://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, url:http\://www.ncbi.nlm.nih.gov/pubmed?term=18296366, url:http\://www.omim.org/entry/601815] PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY EXACT [] DOID:0050723 PSAT deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, url:http\://www.omim.org/entry/610992?search=610992&highlight=610992, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417] Phosphoserine aminotransferase deficiency EXACT [] DOID:0050724 PSPH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. [url:http\://en.wikipedia.org/wiki/PSPH, url:http\://www.omim.org/entry/614023, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350] PSPHD EXACT [] DOID:0050725 tyrosinemia type II A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. [url:http\://en.wikipedia.org/wiki/Tyrosinemia_type_II, url:http\://www.omim.org/entry/276600?search=276600&highlight=276600] Richner-Hanhart syndrome EXACT [] DOID:0050726 tyrosinemia type I A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. [url:http\://en.wikipedia.org/wiki/Type_I_tyrosinemia] hepatorenal tyrosinemia EXACT [] DOID:0050727 tyrosinemia type III A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. [url:http\://en.wikipedia.org/wiki/Type_III_tyrosinemia, url:http\://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia] DOID:0050728 glycogen metabolism disorder A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism] DOID:0050729 neutral lipid storage disease A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [url:http\://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome] Chanarin-Dorfman syndrome EXACT [] DOID:0050730 coenzyme Q10 deficiency disease A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. [url:http\://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity] COENZYME Q10 DEFICIENCY, PRIMARY EXACT [] DOID:0050731 vitamin B12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12. [url:http\://en.wikipedia.org/wiki/B12_deficiency] hypocobalaminemia EXACT [] DOID:0050732 methylmalonic aciduria and homocystinuria type cblE DOID:0050733 methylmalonic aciduria and homocystinuria type cblG DOID:0050734 congenital intrinsic factor deficiency A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [url:http\://omim.org/entry/261000?search=261000&highlight=261000, url:http\://www.ncbi.nlm.nih.gov/pubmed/14695536, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332] hereditary intrinsic factor deficiency EXACT [] DOID:0050735 X-linked disease A monogenic disease that has_material_basis_in muations in genes on the X chromosome. [url:http\://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002049.htm] DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. [url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002052.htm] DOID:0050738 Y-linked disease A monogenic disease that has_material_basis_in muations on the Y chromosome. [url:http\://en.wikipedia.org/wiki/Genetic_disorder#Y-linked] DOID:0050739 autosomal genetic disease A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] DOID:0050740 Qazi Markouizos syndrome A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. [url:http\://omim.org/entry/600096, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010] Qazi-Markouizos syndrome EXACT [] DOID:0050741 alcohol dependence alcoholism EXACT [] DOID:0050742 nicotine dependence tobacco use disorder EXACT [NSH:D014029] DOID:0050743 mature T-cell and NK-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. [url:http\://www.cancer.gov/dictionary?CdrID=393800, url:http\://www.cancer.gov/dictionary?CdrID=44062, url:http\://www.ncbi.nlm.nih.gov/pubmed/21919697] NK-T cell lymphoma EXACT [] DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells. [url:http\://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology] DOID:0050745 diffuse large B-cell lymphoma A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. [url:http\://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma] DOID:0050746 mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. [url:http\://en.wikipedia.org/wiki/Mantle_cell_lymphoma] DOID:0050747 lymphoplasmacytic lymphoma A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. [url:http\://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma] Waldenström's macroglobulinemia EXACT [] DOID:0050748 marginal zone B-cell lymphoma A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. [url:http\://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=562554] marginal zone lymphoma EXACT [] DOID:0050749 peripheral T-cell lymphoma A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. [url:http\://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma] DOID:0050750 splenic marginal zone lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. [url:http\://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma] DOID:0050751 T-cell large granular lymphocyte leukemia A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. [url:http\://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia] Large granular lymphocytic leukemia EXACT [] DOID:0050752 amyotrophic lateral sclerosis type 8 A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. [url:http\://omim.org/entry/608627, utl:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] amyotrophic lateral sclerosis 8 EXACT [OMIM:608627] DOID:0050753 cerebellar ataxia A cerebellar disease characterized by ataxia originating in the cerebellum. [url:http\://en.wikipedia.org/wiki/Cerebellar_ataxia] DOID:0050754 ataxia with oculomotor apraxia type 1 DOID:0050755 ataxia with oculomotor apraxia type 2 DOID:0050756 Batten disease juvenile neuronal ceroid lipofuscinosis EXACT [] DOID:0050757 deafness dystonia syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. [url:http\://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, url:http\://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, url:http\://omim.org/entry/304700, url:http\://www.ncbi.nlm.nih.gov/books/NBK1216/] Mohr-Tranebjaerg Syndrome EXACT [] DOID:0050758 metabolic acidosis A lactic acidosis that has_material_basis_in high levels of acid. [url:http\://en.wikipedia.org/wiki/Metabolic_acidosis] DOID:0050759 myotonic dystrophy type 2 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. [url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/602668, url:http\://www.ncbi.nlm.nih.gov/books/NBK1466/, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple] proximal myotonic myopathy EXACT [] DOID:0050760 X-linked myopathy with excessive autophagy XMEA EXACT [] DOID:0050761 paramyloidosis DOID:0050762 adenylosuccinase lyase deficiency DOID:0050763 ARC syndrome A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.. [url:http\://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, url:http\://omim.org/entry/208085, url:http\://omim.org/entry/613404, url:http\://www.ncbi.nlm.nih.gov/pubmed/16896922, url:http\://www.ncbi.nlm.nih.gov/pubmed/22753090, url:http\://www.ncbi.nlm.nih.gov/pubmed/24415890, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697] Arthrogryposis-renal dysfunction-cholestasis EXACT [] DOID:0050764 Armfield syndrome MRXSA EXACT [OMIM:300261] DOID:0050765 neuroacanthocytosis DOID:0050766 chorea-acanthocytosis DOID:0050767 midface dysplasia DOID:0050768 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. [url:http\://omim.org/entry/604273] MC5DN1 EXACT [] DOID:0050769 N syndrome NSX EXACT [OMIM:310465] DOID:0050770 polycystic liver disease DOID:0050771 phaeochromocytoma DOID:0050772 spastic ataxia 1 DOID:0050773 paraganglioma chemodectoma EXACT [] DOID:0050774 rapadilino syndrome DOID:0050775 schneckenbecken dysplasia DOID:0050776 non-syndromic X-linked intellectual disability A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. [url:http\://www.ncbi.nlm.nih.gov/pubmed/7011032] non-specific X-linked mental retardation EXACT [] DOID:0050777 Joubert syndrome A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple] JBTS EXACT [] DOID:0050778 Meckel syndrome A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. [url:http\://en.wikipedia.org/wiki/Meckel_syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract] Meckel-Gruber syndrome EXACT [] DOID:0050779 hydrolethalus syndrome An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:http\://www.ncbi.nlm.nih.gov/pubmed/15843405] Salonen-Herva-Norio syndrome EXACT [] DOID:0050780 Opitz-GBBB syndrome A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:http\://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb] Opitz G/BBB Syndrome EXACT [] DOID:0050781 Ogden syndrome An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. [url:http\://en.wikipedia.org/wiki/N-acetyltransferase, url:http\://en.wikipedia.org/wiki/NatA_Acetyltransferase, url:http\://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1, url:http\://repository.cshl.edu/id/eprint/27483, url:http\://www.nature.com/news/2011/110623/full/news.2011.382.html, url:http\://www.ncbi.nlm.nih.gov/gene/8260, url:http\://www.ncbi.nlm.nih.gov/pubmed/21700266, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432, url:www.omim.org/entry/300855?search=300855] X-linked Malformation and Infantile Lethality Syndrome EXACT [] DOID:0050782 Zollinger-Ellison Syndrome A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/, url:http\://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract] DOID:0050783 secondary progressive multiple sclerosis A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms] SPMS EXACT [] DOID:0050784 primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx] Primary-progressive MS EXACT [] DOID:0050785 progressive relapsing multiple sclerosis A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx] Progressive-relapsing MS EXACT [] DOID:0050786 iridogoniodysgenesis syndrome An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. [url:http\://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, url:http\://rarediseases.info.nih.gov/gard/3026/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/19175065] iridogoniodysgenesis type 2 EXACT [] DOID:0050787 juvenile polyposis syndrome An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/] DOID:0050788 proximal symphalangism An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. [url:http\://omim.org/entry/185800?search=185800&highlight=185800, url:http\://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250] Cushing's symphalangism EXACT [] DOID:0050789 tarsal-carpal coalition syndrome An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:http\://omim.org/entry/186570?search=186570&highlight=186570, url:http\://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/22326510, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412] DOID:0050790 fibular hypoplasia and complex brachydactyly An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. [url:http\://omim.org/entry/228900?search=228900&highlight=228900, url:http\://www.ncbi.nlm.nih.gov/pubmed/16222676, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple] Du Pan syndrome EXACT [] DOID:0050791 persistent mullerian duct syndrome A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. [url:http\://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome, url:http\://omim.org/entry/261550?search=261550&highlight=261550, url:http\://www.ncbi.nlm.nih.gov/pubmed/20352001, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856] DOID:0050792 multiple cutaneous and mucosal venous malformations An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. [url:http\://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations, url:http\://omim.org/entry/600195?search=600195&highlight=600195, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301733] DOID:0050793 short QT syndrome An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. [url:http\://en.wikipedia.org/wiki/Short_QT_syndrome, url:http\://ghr.nlm.nih.gov/condition/short-qt-syndrome, url:http\://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083] DOID:0050794 multiple synostoses syndrome A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. [url:http\://rarediseases.info.nih.gov/gard/3836/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237] DOID:0050795 cone dystrophy A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/] retinal cone dystrophy EXACT [] DOID:0050796 achalasia microcephaly syndrome An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). [url:http\://omim.org/entry/200450, url:http\://rarediseases.info.nih.gov/gard/456/disease/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN] ACHALASIA-MICROCEPHALY SYNDROME EXACT [] DOID:0050797 peroxisomal acyl-CoA oxidase deficiency A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. [url:http\://www.ncbi.nlm.nih.gov/pubmed/11815777, url:http\://www.ncbi.nlm.nih.gov/pubmed/17458872, url:http\://www.ncbi.nlm.nih.gov/pubmed/18536048, url:http\://www.omim.org/entry/264470, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971] Peroxisomal acyl-coenzyme A oxidase EXACT [] DOID:0050798 cerebral creatine deficiency syndrome DOID:0050799 guanidinoacetate methyltransferase deficiency GAMT deficiency EXACT [] DOID:0050800 creatine transporter deficiency SLC6A8 deficiency EXACT [] DOID:0050801 androgenic alopecia androgenetic alopecia EXACT [] DOID:0050802 Ehlers-Danlos syndrome progeroid type An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001468.htm, url:http\://www.omim.org/entry/615349?search=130070&highlight=130070, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type] xylosylprotein 4-beta-galactosyltransferase deficiency RELATED [] DOID:0050803 glioblastoma classical subtype A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475] DOID:0050804 glioblastoma proneural subtype A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] DOID:0050805 glioblastoma mesenchymal subtype A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] DOID:0050806 glioblastoma neural subtype A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] DOID:0050807 Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. [url:http\://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972] DOID:0050808 mucopolysaccharidosis IV DOID:0050809 mucopolysaccharidosis IX A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII] DOID:0050810 biotin deficiency A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. [url:http\://en.wikipedia.org/wiki/Biotin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html] B7 deficiency EXACT [] DOID:0050811 congenital adrenal hyperplasia A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. [url:http\://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&, url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0] lipoid CAH EXACT [] DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. [url:http\://omim.org/entry/612847, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282] spondyloepimetaphyseal dysplasia Pakistani type EXACT [] DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [url:http\://omim.org/entry/143095?search=143095&highlight=143095, url:http\://www.informatics.jax.org/disease/143095, url:http\://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/, url:http\://www.uniprot.org/diseases/DI-01753] Spondyloepiphyseal Dysplasia EXACT [] DOID:0050814 temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21129728, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, url:http\://www.sciencedirect.com/science/article/pii/S1769721213002449] PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE EXACT [] DOID:0050815 eye adnexa disease An eye and adnexa disease that is located_in the adnexa of the eye. [url:http\://en.wikipedia.org/wiki/Accessory_visual_structures] DOID:0050816 urofacial syndrome An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. [url:http\://en.wikipedia.org/wiki/Urofacial_syndrome, url:http\://omim.org/entry/236730, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704] Ochoa syndrome EXACT [] DOID:0050817 Stargardt disease An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. [url:http\://en.wikipedia.org/wiki/Stargardt_disease] STARGARDT DISEASE 1 EXACT [] DOID:0050818 transcobalamin II deficiency A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. [url:http\://omim.org/entry/275350, url:https\://www.orpha.net/data/patho/GB/uk-TCII.pdf] TCN2 deficiency EXACT [] DOID:0050819 Matthew-Wood syndrome An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. [url:http\://omim.org/entry/601186?search=%22syndromic%20MICROPHTHALMIa%22&highlight=%22%28syndrome|syndromic%29%20microphthalmia%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/17236193, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470] microphthalmia syndromic type 9 EXACT [] DOID:0050820 atrioventricular block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. [url:http\://en.wikipedia.org/wiki/Atrioventricular_block] AV block EXACT [] DOID:0050821 first-degree atrioventricular block DOID:0050822 second-degree atrioventricular block second-degree heart block EXACT [] DOID:0050823 third-degree atrioventricular block complete AV block EXACT [] DOID:0050824 sinoatrial node disease A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. [url:http\://en.wikipedia.org/wiki/Sinoatrial_node] sinuatrial node EXACT [] DOID:0050825 endocardium disease A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. [url:http\://en.wikipedia.org/wiki/Endocardium, url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCkQFjAA&url=http%3A%2F%2Fpeople.upei.ca%2Flmiller%2F2009_CV_Endocardial_Pathology%2FENDOCARDIUM-2009.pdf&ei=SsP7UsjSH8Tx0gGbgYHQAw&usg=AFQjCNH2MScGQBlPP4MG_tL5dAiBiQY_YA&sig2=nbNfx77zxOxnTA9O875QeQ&bvm=bv.61190604\,d.dmQ&cad=rja] DOID:0050826 tricuspid valve disease Tricuspid disease EXACT [MTHICD9_2006:397.0] DOID:0050827 rheumatic heart disease A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. [url:http\://en.wikipedia.org/wiki/Rheumatic_heart_disease] DOID:0050828 artery disease A vascular disease that is located_in an artery. [url:http\://en.wikipedia.org/wiki/Artery#Pathology] DOID:0050829 pericardium disease A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. [url:http\://en.wikipedia.org/wiki/Pericardium] DOID:0050830 peripheral artery disease An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000170.htm, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/pad/] DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. [url:http\://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, url:http\://www.jbc.org/content/277/19/17367, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport] FENIB EXACT [] DOID:0050832 pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. [url:http\://en.wikipedia.org/wiki/Pyrimidine_metabolism, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9] DOID:0050833 orotic aciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. [url:http\://en.wikipedia.org/wiki/Orotic_aciduria, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9, url:http\://www.omim.org/entry/258900] DOID:0050834 CHARGE syndrome A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract] CHARGE association EXACT [] DOID:0050835 generalized dystonia A dystonia that affects most or all of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] Symptomatic torsion dystonia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:192858005] DOID:0050836 focal dystonia A dystonia that is localized to a specific part of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] DOID:0050837 multifocal dystonia A dystonia that involves two or more unrelated body parts. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] DOID:0050838 segmental dystonia A dystonia that affects two or more adjacent parts of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] DOID:0050839 anismus DOID:0050840 cervical dystonia A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. [url:http\://en.wikipedia.org/wiki/Spasmodic_torticollis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1155/] spasmodic torticollis EXACT [] DOID:0050841 focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. [url:http\://en.wikipedia.org/wiki/Dystonia] organic writer's cramp EXACT [] DOID:0050842 oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. [url:http\://en.wikipedia.org/wiki/Oculogyric_crisis] DOID:0050843 oromandibular dystonia A focal dystonia that is characterized by distortions of the mouth and tongue. [url:http\://en.wikipedia.org/wiki/Oromandibular_dystonia] DOID:0050844 spasmodic dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. [url:http\://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx] laryngeal dystonia EXACT [] DOID:0050845 cranio-facial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] DOID:0050846 hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] DOID:0050847 sleep apnea A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. [url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] DOID:0050848 obstructive sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. [url:http\://en.wikipedia.org/wiki/Obstructive_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000811.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1] obstructive sleep apnea syndrome EXACT [] DOID:0050849 periampullary adenoma DOID:0050850 diabetic encephalopathy DOID:0050851 glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. [url:http\://en.wikipedia.org/wiki/Glomerulosclerosis] DOID:0050852 limb ischemia DOID:0050853 chronic venous insufficiency DOID:0050854 Muckle-Wells syndrome DOID:0050855 renal fibrosis DOID:0050856 oppositional defiant disorder DOID:0050857 Perrault syndrome An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. [url:http\://ghr.nlm.nih.gov/gene/LARS2, url:http\://www.ncbi.nlm.nih.gov/pubmed/23541340] DOID:0050858 Marshall-Smith syndrome A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [url:http\://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, url:http\://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1] DOID:0050859 hemorrhagic cystitis DOID:0050860 colorectal adenoma DOID:0050861 colorectal adenocarcinoma A colorectal cancer that derives_from epithelial cells of glandular origin. [url:http\://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma] DOID:0050862 pyometritis DOID:0050863 arteritic anterior ischemic optic neuropathy DOID:0050864 non-arteritic anterior ischemic optic neuropathy nonarteritic anterior ischemic optic neuropathy EXACT [] DOID:0050865 tongue squamous cell carcinoma A tongue cancer that is located_in the squamous cells of the tongue. [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] squamous-cell carcinoma EXACT [] DOID:0050866 oral squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] mouth squamous cell carcinoma EXACT [] DOID:0050867 Jensen syndrome A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. [url:http\://omim.org/entry/311150, url:http\://www.ncbi.nlm.nih.gov/pubmed/3425626, url:http\://www.ncbi.nlm.nih.gov/pubmed/7195649, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple] OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA EXACT [] DOID:0050868 hepatocellular adenoma DOID:0050869 villous adenoma DOID:0050870 in situ pulmonary adenocarcinoma A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. [url:http\://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma] bronchioalveolar carcinoma EXACT [] DOID:0050871 fibroma DOID:0050872 large cell neuroendocrine carcinoma DOID:0050873 follicular lymphoma A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). [url:http\://en.wikipedia.org/wiki/Follicular_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=428287] DOID:0050875 small cell neuroendocrine carcinoma DOID:0050876 Caroli disease A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. [url:http\://en.wikipedia.org/wiki/Caroli_disease, url:http\://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract] DOID:0050877 pancreatic agenesis A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. [url:http\://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805] partial pancreatic agenesis EXACT [] DOID:0050878 CLONE OF congenital afibrinogenemia Fibrinogen deficiency EXACT [SNOMEDCT_2005_07_31:29718007] DOID:0050879 fragile X-associated tremor/ataxia syndrome A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.ncbi.nlm.nih.gov/pubmed/18195136, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256] FXTAS syndrome EXACT [] DOID:0050880 Koolen de Vries syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. [url:http\://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, url:http\://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, url:http\://omim.org/entry/610443, url:http\://www.17q21.com/en/, url:http\://www.ncbi.nlm.nih.gov/books/NBK24676/, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544363, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544367, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169] Koolen-De Vries syndrome EXACT [] DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP). [url:http\://omim.org/entry/167320, url:http\://www.ncbi.nlm.nih.gov/pubmed/19380227, url:http\://www.ncbi.nlm.nih.gov/pubmed/21892620, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=21304887, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple] inclusion body myopathy with Paget's disease of bone and frontotemporal dementia EXACT [] DOID:0050882 spinocerebellar ataxia type 5 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene. [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=20368622, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766] DOID:0050883 infantile cerebellar-retinal degeneration A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. [url:http\://omim.org/entry/614559, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=22405087, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23438437, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, url:http\://www.uniprot.org/diseases/DI-03409] DOID:0050884 triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. [url:http\://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, url:http\://omim.org/entry/615512, url:http\://www.ncbi.nlm.nih.gov/pubmed/16980388, url:http\://www.ncbi.nlm.nih.gov/pubmed/17424909, url:http\://www.ncbi.nlm.nih.gov/pubmed/23318931, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport] Triose phosphate-isomerase deficiency EXACT [] DOID:0050885 IMAGe syndrome A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. [url:http\://omim.org/entry/614732, url:http\://www.ncbi.nlm.nih.gov/pubmed/14760276, url:http\://www.ncbi.nlm.nih.gov/pubmed/22634751, url:http\://www.ncbi.nlm.nih.gov/pubmed/23719190, url:http\://www.ncbi.nlm.nih.gov/pubmed/24065356, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173] intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities EXACT [] DOID:0050886 Troyer syndrome A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301556, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple] spastic paraplegia type 20 EXACT [] DOID:0050887 Townes-Brocks syndrome An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. [url:http\://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome, url:http\://ghr.nlm.nih.gov/condition/townes-brocks-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=12925729, url:http\://www.omim.org/entry/107480, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple] DOID:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. [url:http\://en.wikipedia.org/wiki/Intellectual_disability] DOID:0050889 non-syndromic intellectual disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. [url:http\://en.wikipedia.org/wiki/Intellectual_disability, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/] DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http\://en.wikipedia.org/wiki/Synucleinopathies] Synucleinopathies RELATED [] DOID:0050891 adrenal cortical adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex. [url:http\://en.wikipedia.org/wiki/Adrenocortical_adenoma] adrenocortical adenoma EXACT [] DOID:0050892 adrenal gland pheochromocytoma An adrenal medulla cancer that is characterized by overproduction of adrenaline. [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma, url:http\://en.wikipedia.org/wiki/Pheochromocytoma, url:http\://www.cancer.gov/cancertopics/types/pheochromocytoma] DOID:0050893 gallbladder adenoma A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Adenoma] DOID:0050894 ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. [url:http\://en.wikipedia.org/wiki/Ameloblastoma] DOID:0050895 bone ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. [url:http\://en.wikipedia.org/wiki/Ameloblastoma] DOID:0050896 bone squamous cell carcinoma A bone carcinoma that derives_from squamous epithelial cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] DOID:0050897 bone chondrosarcoma A chondrosarcoma that is located_in bone. [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] DOID:0050898 phalanx chondroma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. [url:http\://en.wikipedia.org/wiki/Chondroma] DOID:0050899 brain stem medulloblastoma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. [url:http\://en.wikipedia.org/wiki/Medulloblastoma] DOID:0050900 sacrum chordoma A spinal chordoma that is located_in the sacrum. [url:http\://en.wikipedia.org/wiki/Sacrum, url:http\://www.cancer.gov/dictionary?CdrID=45297] DOID:0050901 corpus callosum oligodendroglioma A brain oligodendroglioma located_in the corpus callosum. [url:http\://en.wikipedia.org/wiki/Corpus_callosum, url:http\://en.wikipedia.org/wiki/Oligodendroglioma, url:http\://www.cancer.gov/dictionary?CdrID=46257] DOID:0050902 medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780] localized primitive neuroectodermal tumor EXACT [] DOID:0050903 parietal lobe ependymoma A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. [url:http\://www.cancer.gov/dictionary?CdrID=46432] DOID:0050904 salivary gland carcinoma A salivary gland cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Salivary_gland_neoplasm, url:http\://www.cancer.gov/dictionary?CdrID=45963] DOID:0050905 inflammatory myofibroblastic tumor A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23091756] DOID:0050906 conjunctival nevus A sensory organ benign neoplasm that is located in the eye conjunctiva. [url:http\://en.wikipedia.org/wiki/Conjunctiva, url:http\://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors] DOID:0050907 mixed extragonadal germ cell cancer A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, url:http\://www.cancer.gov/dictionary?CdrID=444993] DOID:0050908 myelodysplastic syndrome A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. [url:http\://en.wikipedia.org/wiki/Myelodysplastic_syndrome, url:http\://www.cancer.gov/dictionary?CdrID=45266] DOID:0050909 MALT lymphoma A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. [url:http\://www.cancer.gov/dictionary?CdrID=45774] mucosa-associated lymphoid tissue lymphoma EXACT [] DOID:0050910 cecum adenoma A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [url:http\://en.wikipedia.org/wiki/Adenoma] caecum adenoma EXACT [] DOID:0050911 appendix carcinoid tumor An appendix cancer that has_material_basis_in neurodendocrine cells. [url:http\://en.wikipedia.org/wiki/Carcinoid, url:http\://www.cancer.gov/dictionary?CdrID=44233] appendix carcinoid endocrine tumour EXACT [] DOID:0050912 colon adenoma A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [url:http\://en.wikipedia.org/wiki/Colorectal_adenoma, url:http\://www.cancer.gov/dictionary?CdrID=46217] DOID:0050913 large intestine adenocarcinoma A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. [url:http\://www.cancer.gov/dictionary?CdrID=46216] DOID:0050914 large intestine adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. [url:http\://en.wikipedia.org/wiki/Adenoma] DOID:0050915 rectum adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum. [url:http\://en.wikipedia.org/wiki/Adenoma] DOID:0050916 bronchus mucoepidermoid carcinoma A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma, url:http\://oralcancerfoundation.org/facts/rare/mc/] DOID:0050917 lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45327, url:http\://www.cancer.gov/dictionary?CdrID=46216] DOID:0050918 vaginal carcinoma A vaginal cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] DOID:0050919 trachea mucoepidermoid carcinoma A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] DOID:0050920 tonsil squamous cell carcinoma A tonsil cancer that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] DOID:0050921 pharynx squamous cell carcinoma A pharynx cancer that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] DOID:0050922 gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. [url:http\://www.ncbi.nlm.nih.gov/pubmed/19417583, url:http\://www.ncbi.nlm.nih.gov/pubmed/2050369, url:http\://www.pathologyoutlines.com/topic/thyroidsettle.html, url:http\://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext] SETTLE tumor EXACT [] DOID:0050924 striated muscle rhabdoid tumor A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. [url:http\://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour, url:http\://www.cancer.gov/dictionary?CdrID=46139] DOID:0050925 small intestine carcinoid neuroendocrine tumor A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. [url:http\://en.wikipedia.org/wiki/Carcinoid] DOID:0050926 jejunal adenocarcinoma A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] DOID:0050927 duodenum adenoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [url:http\://en.wikipedia.org/wiki/Adenoma] DOID:0050928 ovarian melanoma An ovarian cancer that has_material_basis_in melanoctyes. [url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/, url:http\://www.ncbi.nlm.nih.gov/pubmed/15166669] DOID:0050929 mucosal melanoma A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic] DOID:0050930 sublingual gland adenoid cystic carcinoma A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] DOID:0050931 parotid gland adenoid cystic carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:http\://en.wikipedia.org/wiki/Parotid_gland] DOID:0050932 lung mucoepidermoid carcinoma A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] DOID:0050933 ovarian serous carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. [url:http\://en.wikipedia.org/wiki/Serous_carcinoma] DOID:0050934 ovarian clear cell carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. [url:http\://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma] clear-cell ovarian carcinoma EXACT [] DOID:0050935 cervical neuroblastoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://link.springer.com/article/10.1007%2Fs12070-007-0083-5, url:http\://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487, url:http\://www.ncbi.nlm.nih.gov/pubmed/15390353, url:http\://www.ncbi.nlm.nih.gov/pubmed/9262064] DOID:0050936 extra-adrenal pheochromocytoma An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. [url:http\://en.wikipedia.org/wiki/Pheochromocytoma] DOID:0050937 retroperitoneal neuroblastoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://en.wiktionary.org/wiki/retroperitoneal] DOID:0050938 breast lobular carcinoma A breast carcinoma that derives_from breast lobules (milk glands). [url:http\://cancergenome.nih.gov/cancersselected/breastlobular, url:http\://www.cancer.gov/dictionary?CdrID=426416] DOID:0050939 uterine corpus endometrial carcinoma A uterine corpus cancer that is derived_from the inner lining of the uterus. [url:http\://cancergenome.nih.gov/cancersselected/endometrial] DOID:0050940 endocervical adenocarcinoma An endocervical carcinoma that derives_from epithelial cells of glandular origin. [url:http\://www.ncbi.nlm.nih.gov/pubmed/12207781] DOID:0050941 spastic ataxia 2 DOID:0050942 spastic ataxia 3 DOID:0050943 spastic ataxia 4 DOID:0050944 spastic ataxia 5 DOID:0050945 spastic ataxia 7 DOID:0050946 Charlevoix-Saguenay spastic ataxia DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. [url:http\://www.omim.org/entry/241530?search=241530&highlight=241530, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple] DOID:0050948 autosomal dominant hypophosphatemic rickets A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. [url:http\://www.ncbi.nlm.nih.gov/pubmed/26365554, url:http\://www.omim.org/entry/193100?search=193100&highlight=193100] DOID:0050949 autosomal recessive hypophosphatemic rickets A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. [url:http\://www.omim.org/entry/241520?search=241520&highlight=241520, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple] DOID:0050950 autosomal recessive cerebellar ataxia A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/] DOID:0050951 hereditary ataxia A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138] DOID:0050952 spastic ataxia DOID:0050953 X-linked hereditary ataxia DOID:0050954 spinocerebellar ataxia type 1 DOID:0050955 spinocerebellar ataxia type 2 DOID:0050956 spinocerebellar ataxia type 6 DOID:0050957 spinocerebellar ataxia type 4 DOID:0050958 spinocerebellar ataxia type 7 DOID:0050959 spinocerebellar ataxia type 8 DOID:0050960 spinocerebellar ataxia type 10 DOID:0050961 spinocerebellar ataxia type 11 DOID:0050962 spinocerebellar ataxia type 12 DOID:0050963 spinocerebellar ataxia type 13 DOID:0050964 spinocerebellar ataxia type 14 DOID:0050965 spinocerebellar ataxia type 15 DOID:0050966 spinocerebellar ataxia type 16 DOID:0050967 spinocerebellar ataxia type 17 DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy DOID:0050969 spinocerebellar ataxia type 18 DOID:0050970 spinocerebellar ataxia type 19/22 DOID:0050971 spinocerebellar ataxia type 20 DOID:0050972 spinocerebellar ataxia type 21 DOID:0050973 spinocerebellar ataxia type 23 DOID:0050974 spinocerebellar ataxia type 25 DOID:0050975 spinocerebellar ataxia type 26 DOID:0050976 spinocerebellar ataxia type 27 DOID:0050977 spinocerebellar ataxia type 28 DOID:0050978 spinocerebellar ataxia type 29 DOID:0050979 spinocerebellar ataxia type 30 DOID:0050980 spinocerebellar ataxia type 31 DOID:0050981 spinocerebellar ataxia type 34 DOID:0050982 spinocerebellar ataxia type 35 DOID:0050983 spinocerebellar ataxia type 36 DOID:0050984 spinocerebellar ataxia type 37 DOID:0050985 spinocerebellar ataxia type 38 DOID:0050986 spinocerebellar ataxia type 40 DOID:0050987 hypomyelinating leukoencephalopathy DOID:0050988 GRID2-related spinocerebellar ataxia DOID:0050989 episodic ataxia type 1 DOID:0050990 episodic ataxia type 2 DOID:0050991 episodic ataxia type 3 DOID:0050992 episodic ataxia type 4 DOID:0050993 episodic ataxia type 5 DOID:0050994 episodic ataxia type 6 DOID:0050995 episodic ataxia type 7 DOID:0050996 episodic ataxia type 8 DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.omim.org/entry/224050?search=224050&highlight=224050, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1777&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1766&Disease(s)/group%20of%20diseases=CAMRQ-syndrome&title=CAMRQ-syndrome&search=Disease_Search_Simple] CAMRQ EXACT [] DOID:0050998 nonprogressive cerebellar atxia with mental retardation DOID:0050999 autosomal recessive spinocerebellar ataxia 10 SCAR10 EXACT [] DOID:0060000 infective endocarditis An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. [url:http\://en.wikipedia.org/wiki/Infective_endocarditis, url:http\://wn.wikipedia.org/wiki/Endocarditis] DOID:0060001 withdrawal disorder A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. [url:http\://en.wikipedia.org/wiki/Withdrawal] DOID:0060002 C1 inhibitor deficiency A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. [ls:IEDB, url:http\://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease] Quincke edema EXACT [] DOID:0060004 autoimmune disease of central nervous system An autoimmune disease of the central nervous system. [ls:IEDB] DOID:0060005 autoimmune disease of endocrine system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. [ls:IEDB] DOID:0060006 artemis deficiency A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. [url:http\://en.wikipedia.org/wiki/DCLRE1C] DOID:0060007 CD3zeta deficiency A severe combined immunodeficiency that affects the development and function of T cells. [url:http\://bioinf.uta.fi/CD247base/] DOID:0060008 janus kinase-3 deficiency DOID:0060009 MHC class I deficiency HLA CLASS I DEFICIENCY EXACT [] DOID:0060010 Omenn syndrome A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells. [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency] DOID:0060011 recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. [url:http\://bioinf.uta.fi/RAG1base/, url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] DOID:0060012 recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. [url:http\://bioinf.uta.fi/RAG2base/, url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] DOID:0060013 gamma chain deficiency A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency] XSCID EXACT [] DOID:0060014 CD45 deficiency A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. [url:http\://bioinf.uta.fi/xml/idr/ff/FF6.xml] DOID:0060015 interleukin-7 receptor alpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. [url:http\://bioinf.uta.fi/IL7Rbase/] IL7R RELATED [] DOID:0060016 CD3delta deficiency A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. [url:http\://bioinf.uta.fi/CD3Dbase/] CD3D EXACT [] DOID:0060017 CD3epsilon deficiency A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. [url:http\://bioinf.uta.fi/CD3Ebase/] DOID:0060018 CD3gamma deficiency A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. [url:http\://bioinf.uta.fi/CD3Gbase/] DOID:0060019 coronin-1A deficiency A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed] DOID:0060020 reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/gene/204?] De Vaal disease EXACT [] DOID:0060021 DNA ligase IV deficiency A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. [url:http\://omim.org/entry/606593, url:http\://www.ncbi.nlm.nih.gov/gene/3981] LIG4 Syndrome EXACT [] DOID:0060022 CD40 ligand deficiency A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [url:http\://bioinf.uta.fi/CD40Lbase/, url:http\://content.karger.com/ProdukteDB/produkte.asp?Doi=236923] X-linked hyper-IgM syndrome EXACT [] DOID:0060023 CD40 deficiency A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. [url:http\://bioinf.uta.fi/CD40base/] type 3 hyper-IgM immunodeficiency EXACT [] DOID:0060024 lambda 5 deficiency A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. [url:http\://bioinf.uta.fi/IGLL1base/, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770, url:http\://www.ncbi.nlm.nih.gov/gene/3543?] DOID:0060025 immunoglobulin alpha deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. [url:http\://bioinf.uta.fi/CD79Abase/, url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205, url:http\://www.ncbi.nlm.nih.gov/gene/973?] IgA deficiency EXACT [] DOID:0060026 immunoglobulin beta deficiency IgB deficiency RELATED [] DOID:0060027 B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. [url:http\://bioinf.uta.fi/BLNKbase/, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515, url:http\://www.ncbi.nlm.nih.gov/gene/2] BLNK deficiency EXACT [] DOID:0060028 Good syndrome An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. [url:http\://en.wikipedia.org/wiki/Good_syndrome, url:http\://icvts.ctsnetjournals.org/cgi/reprint/9/4/750] thymoma with hypogammaglobulinemia EXACT [] DOID:0060029 autoimmune disease of exocrine system An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. [ls:IEDB] DOID:0060030 autoimmune disease of eyes, ear, nose and throat A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. [ls:IEDB] DOID:0060031 autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. [ls:IEDB] DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. [ls:IEDB] DOID:0060033 autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. [ls:IEDB] DOID:0060035 medical disorder A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. [url:http\://en.wikipedia.org/wiki/Diseases#Disorder, url:http\://www.medilexicon.com/medicaldictionary.php?t=25959] DOID:0060036 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. [url:http\://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html] DOID:0060037 developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. [url:http\://en.wikipedia.org/wiki/Developmental_disorders] DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. [url:http\://en.wikipedia.org/wiki/Specific_developmental_disorder] DOID:0060039 autoimmune disease of skin and connective tissue A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. [ls:IEDB] DOID:0060040 pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. [url:http\://www.ninds.nih.gov/disorders/pdd/pdd.htm] pervasive development disorder EXACT [] DOID:0060041 autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. [url:http\://en.wikipedia.org/wiki/Autism_spectrum_disorder, url:www.neurodevnet.ca] DOID:0060042 atypical autism An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. [url:http\://counsellingresource.com/distress/autistic/autism-atypical.html, url:http\://www.wisegeek.com/what-is-atypical-autism.htm, url:www.neurodevnet.ca] PDD NOS EXACT [] DOID:0060043 sexual disorder A disease of mental health that involves the impairment in normal sexual functioning. [url:http\://allpsych.com/disorders/sexual/index.html] DOID:0060044 paraphilia disorder DOID:0060045 Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. [url:http\://en.wikipedia.org/wiki/Munchausen_by_proxy] DOID:0060046 aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. [url:http\://en.wikipedia.org/wiki/Aphasia] DOID:0060047 writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities] DOID:0060048 nosophobia A specific phobia that involves an irrational fear of contracting a disease. [url:http\://en.wikipedia.org/wiki/Nosophobia] DOID:0060049 autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. [ls:IEDB] DOID:0060050 autoimmune disease of blood A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. [ls:IEDB] DOID:0060051 autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. [ls:IEDB] DOID:0060052 neurological disorder A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. [ls:IEDB] DOID:0060053 peripheral neuropathy A neuropathy that is located_in nerves of the peripheral nervous system. [url:http\://en.wikipedia.org/wiki/Sensory_neuropathy] DOID:0060054 autonomic peripheral neuropathy DOID:0060055 popliteal pterygium syndrome An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1. [ISBN:0-7216-2921-0, PMID:2352260, PMID:4384166, url:http\://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome, url:https\://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome] popliteal web syndrome EXACT [] DOID:0060056 hypersensitivity reaction disease An immune system disease that is caused by abnormal immune responses. [url:http\://en.wikipedia.org/wiki/Hypersensitivity, url:http\://physio.ucsf.edu/GEMS/courses/Immunology/materials/fa13_essential_immunology/090313_hypersensitivity_defranco.pdf, url:http\://www.ncbi.nlm.nih.gov/books/NBK27136/] DOID:0060057 gluten allergy gluten allergic reaction EXACT [] DOID:0060058 lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. [url:http\://en.wikipedia.org/wiki/Lymphoma, url:http\://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161, url:http\://www.nlm.nih.gov/medlineplus/lymphoma.html] lymphoid cancer EXACT [] DOID:0060060 non-Hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. [url:http\://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45148] DOID:0060061 cutaneous T cell lymphoma A non-Hodgkin's lymphoma that is caused by a mutation of T cells. [url:http\://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma] DOID:0060062 familial juvenile hyperuricemic nephropathy A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21060763] DOID:0060063 X-linked sideroblastic anemia XLSA EXACT [] DOID:0060064 sideroblastic anemia with spinocerebellar ataxia ASAT EXACT [] DOID:0060065 pyridoxine-refractory autosomal recessive sideroblastic anemia DOID:0060066 pyridoxine-responsive sideroblastic anemia DOID:0060067 Pearson syndrome A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. [url:http\://en.wikipedia.org/wiki/Pearson_syndrome] Pearson Marrow-Pancreas Syndrome EXACT [] DOID:0060068 marantic endocarditis An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. [url:http\://en.wikipedia.org/wiki/Marantic_endocarditis] non-bacterial thrombotic endocarditis EXACT [] DOID:0060069 Bacillus cereus pneumonia DOID:0060071 pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. [url:http\://en.wikipedia.org/wiki/Neoplasm] DOID:0060072 benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. [url:http\://en.wikipedia.org/wiki/Benign_neoplasm, url:http\://www.nlm.nih.gov/medlineplus/benigntumors.html] DOID:0060073 lymphatic system cancer An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. [url:http\://en.wikipedia.org/wiki/Lymphatic_system] DOID:0060074 ductal carcinoma in situ DOID:0060075 estrogen-receptor positive breast cancer DOID:0060076 estrogen-receptor negative breast cancer DOID:0060077 progesterone-receptor positive breast cancer DOID:0060078 progesterone-receptor negative breast cancer DOID:0060079 Her2-receptor positive breast cancer DOID:0060080 Her2-receptor negative breast cancer DOID:0060081 triple-receptor negative breast cancer DOID:0060082 breast benign neoplasm DOID:0060083 immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. [url:http\://en.wikipedia.org/wiki/Immune_system] DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived. [url:http\://en.wikipedia.org/wiki/Benign_tumor] DOID:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from. [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367] DOID:0060086 female reproductive organ benign neoplasm DOID:0060087 male reproductive organ benign neoplasm DOID:0060088 vestibular gland benign neoplasm DOID:0060089 endocrine organ benign neoplasm An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. [url:http\://en.wikipedia.org/wiki/Endocrine_system] DOID:0060090 central nervous system organ benign neoplasm DOID:0060091 cardiovascular organ benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. [url:http\://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system] DOID:0060092 immune system organ benign neoplasm An organ system benign neoplasm located_in the immune system organs. [url:http\://en.wikipedia.org/wiki/Immune_system] DOID:0060094 bone benign neoplasm A connective tissue benign neoplasm that is located_in bone. [url:http\://en.wikipedia.org/wiki/Bone_tumor] DOID:0060095 uterine benign neoplasm DOID:0060096 sensory organ benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ. [url:http\://en.wikipedia.org/wiki/Sensory_system] DOID:0060097 thoracic benign neoplasm An organ system benign neoplam that is located_in the thoracic cavity. [url:http\://en.wikipedia.org/wiki/Thoracic_cavity] DOID:0060098 osteoblastoma DOID:0060099 musculoskeletal system benign neoplasm An organ system benign neoplasm that is located_in the muscular and skeletal organs. [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system] DOID:0060100 musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders] skeletal system cancer EXACT [] DOID:0060101 benign glioma A cell type benign neoplasm that has_material_basis_in glial cells. [url:http\://www.cancer.gov/dictionary?CdrID=45700] DOID:0060102 cartilage cancer DOID:0060103 central nervous system primitive neuroectodermal neoplasm DOID:0060104 cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. [url:http\://en.wikipedia.org/wiki/Medulloblastoma] DOID:0060106 brain meningioma DOID:0060108 brain glioma A brain cancer that has_material_basis_in glial cells. [url:http\://cancergenome.nih.gov/cancersselected/lowergradeglioma, url:http\://www.cancer.gov/dictionary?CdrID=45700] lower grade glioma EXACT [] DOID:0060109 vulvar benign neoplasm DOID:0060110 cervical benign neoplasm DOID:0060111 fallopian tube benign neoplasm DOID:0060112 ovarian benign neoplasm DOID:0060114 vaginal benign neoplasm DOID:0060115 nervous system benign neoplasm An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. [url:http\://en.wikipedia.org/wiki/Nervous_system] DOID:0060116 sensory system cancer A nervous system cancer that is located_in the sensory system. [url:http\://en.wikipedia.org/wiki/Sensory_system] DOID:0060117 peritoneal benign neoplasm An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. [url:http\://en.wikipedia.org/wiki/Peritoneal] DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity. [url:http\://en.wikipedia.org/wiki/Thoracic_cavity] DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx. [url:http\://en.wikipedia.org/wiki/Pharynx] pharynx neoplasm EXACT [] DOID:0060120 skeletal system benign neoplasm DOID:0060121 integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs. [url:http\://en.wikipedia.org/wiki/Integumentary_system] DOID:0060122 integumentary system cancer An organ system cancer that is located_in the skin, hair and nails. [url:http\://en.wikipedia.org/wiki/Integumentary_system] DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue. [url:http\://en.wikipedia.org/wiki/Connective_tissue_neoplasm] tumor of the soft tissue EXACT [NCI2004_11_17:C3377] DOID:0060125 heavy chain disease A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] DOID:0060126 alpha chain disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] Seligmann's disease EXACT [] DOID:0060127 gamma heavy chain disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). [url:http\://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx] Franklin's disease EXACT [] DOID:0060128 mu chain disease A heavy chain disease that results from an overproduction of mu antibody (IgM). [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] DOID:0060129 delta chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] DOID:0060130 akinetopsia An agnosia that is a loss of motion perception. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060131 alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060132 amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. [url:http\://en.wikipedia.org/wiki/Agnosia] receptive amusia EXACT [] DOID:0060133 anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060134 apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060135 apraxia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060136 associative agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060137 auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060138 autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060139 color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060140 cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060141 finger agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060142 form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060143 integrative agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060144 mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060145 pain agnosia An agnosia that is a loss of the ability to perceive and process pain. [url:http\://en.wikipedia.org/wiki/Agnosia] analgesia EXACT [] DOID:0060146 phonagnosia An agnosia that is a loss of the ability to recognize familiar voices. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060147 semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060148 simultanagnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060149 social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. [url:http\://en.wikipedia.org/wiki/Agnosia] expressive agnosia EXACT [] DOID:0060150 astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. [url:http\://en.wikipedia.org/wiki/Agnosia] somatosensory agnosia EXACT [] DOID:0060151 tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060152 time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060153 topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060154 verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060155 visual agnosia An agnosia that is a loss of the ability to visually recognize objects. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060156 visual verbal agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:0060157 diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. [url:http\://en.wikipedia.org/wiki/Alopecia_areata] DOID:0060158 acquired metabolic disease A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659] DOID:0060159 organic acidemia An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. [url:http\://en.wikipedia.org/wiki/Aciduria] organic aciduria EXACT [] DOID:0060160 survival motor neuron spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein. [url:http\://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy] spinal muscular atrophies of childhood EXACT [] DOID:0060161 Kennedy's disease A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor. [url:http\://en.wikipedia.org/wiki/Kennedy_disease] X-linked Spinal and Bulbar Muscular Atrophy EXACT [] DOID:0060162 dentatorubral-pallidoluysian atrophy An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. [url:http\://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy] Naito-Oyanagi disease EXACT [] DOID:0060163 body dysmorphic disorder A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). [url:http\://en.wikipedia.org/wiki/Body_dysmorphic_disorder] dysmorphophobia EXACT [] DOID:0060164 pain disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. [url:http\://en.wikipedia.org/wiki/Pain_disorder] DOID:0060165 Kleine-Levin syndrome A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. [url:http\://en.wikipedia.org/wiki/Kleine-Levin_syndrome] DOID:0060166 bipolar ll disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. [url:http\://en.wikipedia.org/wiki/Bipolar_II] DOID:0060167 seasonal affective disorder A mental depression that involves presentation of depressive symptoms only during a specific season of the year. [url:http\://en.wikipedia.org/wiki/Seasonal_affective_disorder] winter depression EXACT [] DOID:0060168 histidinemia A histidine metabolism disease that involves a deficiency of the enzyme histidase. [url:http\://en.wikipedia.org/wiki/Histidinemia] histidinuria EXACT [] DOID:0060169 benign familial infantile epilepsy An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. [url:http\://www.ncbi.nlm.nih.gov/pubmed/12503648] BFIE EXACT [] DOID:0060170 generalized epilepsy with febrile seizures plus An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22011963] GEFS+ EXACT [] DOID:0060171 Dravet Syndrome An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. [url:http\://dravet.org/about-dravet/smei, url:http\://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm] SMEI EXACT [] DOID:0060172 juvenile absence epilepsy An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org] DOID:0060173 Timothy syndrome An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1403/] DOID:0060174 GABA aminotransferase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. [url:http\://pathman.smpdb.ca/pathways/SMP00351/pathway, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf] gamma-aminobutyric acid transaminase deficiency EXACT [] DOID:0060175 succinic semialdehyde dehydrogenase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. [url:http\://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism] SSADH EXACT [] DOID:0060176 gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. [url:http\://www.ncbi.nlm.nih.gov/pubmed/12891648] DOID:0060177 homocarnosinosis A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. [url:http\://en.wikipedia.org/wiki/Carnosinemia, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf] DOID:0060178 familial hemiplegic migraine A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. [url:http\://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine] DOID:0060179 Renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [url:http\://en.wikipedia.org/wiki/Renpenning%27s_syndrome] DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon. [url:http\://en.wikipedia.org/wiki/Colitis] DOID:0060181 ischemic colitis A colitis caused_by inadequate blood supply to the colon. [url:http\://en.wikipedia.org/wiki/Ischemic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677] DOID:0060182 microscopic colitis A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Microscopic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232] DOID:0060183 collagenous colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Collagenous_colitis] DOID:0060184 lymphocytic colitis A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Lymphocytic_colitis] DOID:0060185 Clostridium difficile colitis A colitis characterized by an overgrowth of Clostridium difficile bacteria. [url:http\://en.wikipedia.org/wiki/Clostridium_difficile_colitis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000259.htm] Pseudomembranous colitis EXACT [MSH:D004761] DOID:0060186 chemical colitis A colitis caused_by introduction of various chemicals. [url:http\://en.wikipedia.org/wiki/Chemical_colitis, url:http\://www.ncbi.nlm.nih.gov/pubmed/18209577] DOID:0060187 diversion colitis A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. [url:http\://en.wikipedia.org/wiki/Diversion_colitis, url:http\://www.ncbi.nlm.nih.gov/pubmed/1916483] DOID:0060188 jejunoileitis An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15973125] DOID:0060189 ileitis An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. [url:http\://en.wikipedia.org/wiki/Ileitis, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] Crohn's ileitis EXACT [] DOID:0060190 ileocolitis An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. [url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] DOID:0060191 gastroduodenal Crohn's disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/12769447] upper GI Crohn's disease EXACT [] DOID:0060192 Crohn's colitis An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] DOID:0060193 amyotrophic lateral sclerosis type 1 The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] amyotrophic lateral sclerosis 1 EXACT [OMIM:105400] DOID:0060194 amyotrophic lateral sclerosis type 2 A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/205100] amyotrophic lateral sclerosis 2, juvenile EXACT [OMIM:205100] DOID:0060195 amyotrophic lateral sclerosis type 3 A type of ALS with loci associated with the disease located_in chromosome 18. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/606640] amyotrophic lateral sclerosis 3 EXACT [OMIM:606640] DOID:0060196 amyotrophic lateral sclerosis type 4 A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602433] distal hereditary motor neuropathy with upper motor neuron signs EXACT [ORDO:357043] DOID:0060197 amyotrophic lateral sclerosis type 5 A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602099] amyotrophic lateral sclerosis 5 EXACT [OMIM:602099] DOID:0060198 amyotrophic lateral sclerosis type 6 A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608030] autosomal recessive amyotrophic lateral sclerosis 6 EXACT [OMIM:608030] DOID:0060199 amyotrophic lateral sclerosis type 7 A type of ALS with loci associated with the disease located_in chromosome 20. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608031] amyotrophic lateral sclerosis 7 EXACT [OMIM:608031] DOID:0060200 amyotrophic lateral sclerosis type 9 A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/611895] amyotrophic lateral sclerosis 9 EXACT [OMIM:611895] DOID:0060201 amyotrophic lateral sclerosis type 10 A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612069] TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions EXACT [OMIM:612069] DOID:0060202 amyotrophic lateral sclerosis type 11 A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612577] amyotrophic lateral sclerosis 11 EXACT [OMIM:612577] DOID:0060203 amyotrophic lateral sclerosis type 12 A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613435] amyotrophic lateral sclerosis 12 EXACT [OMIM:613435] DOID:0060204 amyotrophic lateral sclerosis type 13 A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/183090] amyotrophic lateral sclerosis 13 EXACT [OMIM:183090] DOID:0060205 amyotrophic lateral sclerosis type 14 A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613954] amyotrophic lateral sclerosis, with or without frontotemporal dementia EXACT [OMIM:613954] DOID:0060206 amyotrophic lateral sclerosis type 15 A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/300857] amyotrophic lateral sclerosis 15, with or without frontotemporal dementia EXACT [OMIM:300857] DOID:0060207 amyotrophic lateral sclerosis type 16 A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614373] amyotrophic lateral sclerosis 16, juvenile RELATED [OMIM:614373] DOID:0060208 amyotrophic lateral sclerosis type 17 A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614696] CHMP2B-related amyotrophic lateral sclerosis EXACT [OMIM:614696] DOID:0060209 amyotrophic lateral sclerosis type 18 A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614808] amyotrophic lateral sclerosis 18 EXACT [OMIM:614808] DOID:0060210 amyotrophic lateral sclerosis type 19 A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615515] amyotrophic lateral sclerosis 19 EXACT [OMIM:615515] DOID:0060211 amyotrophic lateral sclerosis type 20 A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615426] amyotrophic lateral sclerosis 20 EXACT [OMIM:615426] DOID:0060212 amyotrophic lateral sclerosis type 21 A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5. [url:http\://omim.org/entry/606070] ALS21 EXACT [OMIM:606070] DOID:0060213 FTDALS1 A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [url:http\://omim.org/entry/105550] FTDMND EXACT [OMIM:105550] DOID:0060214 FTDALS2 A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [url:http\://omim.org/entry/615911, url:http\://www.ncbi.nlm.nih.gov/pubmed/24934289] frontotemporal dementia and/or amyotrophic lateral sclerosis 2 EXACT [OMIM:615911] DOID:0060215 Balo concentric sclerosis A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. [url:http\://en.wikipedia.org/wiki/Balo_concentric_sclerosis] Balo's concentric sclerosis EXACT [] DOID:0060216 Cogan syndrome An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [url:http\://en.wikipedia.org/wiki/Cogan_syndrome] diffuse interstitual keratitis EXACT [ICD10CM:H16.32] DOID:0060217 Cogan-Reese syndrome An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. [url:http\://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome, url:http\://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1] DOID:0060218 CREST syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [url:http\://en.wikipedia.org/wiki/CREST_syndrome] DOID:0060219 lymph node adenoid cystic carcinoma A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. [url:http\://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109, url:http\://www.oralcancerfoundation.org/facts/rare/ac/] lymph node adenoid cystic cancer EXACT [] DOID:0060220 physical urticaria An urticaria induced by external physical influences. [ISBN:1416029990, url:http\://en.wikipedia.org/wiki/Physical_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html] DOID:0060221 Maffucci syndrome A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. [url:http\://en.wikipedia.org/wiki/Maffucci_syndrome, url:http\://ghr.nlm.nih.gov/condition/maffucci-syndrome] DOID:0060222 Scheie syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [url:http\://en.wikipedia.org/wiki/Scheie_syndrome] mucopolysaccharidosis type V EXACT [] DOID:0060223 agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. [url:http\://en.wikipedia.org/wiki/Agraphia, url:http\://www.ncbi.nlm.nih.gov/pubmed/21507544] DOID:0060224 atrial fibrillation 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 symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. [url:http\://en.wikipedia.org/wiki/Atrial_fibrillation, url:http\://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/af] A-fib EXACT [] DOID:0060225 3MC syndrome A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16096999] oculopalatoskeletal syndrome EXACT [] DOID:0060226 acrofrontofacionasal dysostosis A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. [url:http\://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis, url:http\://www.ncbi.nlm.nih.gov/pubmed/2986457] Richieri-Costa-Colletto syndrome EXACT [] DOID:0060227 Adams-Oliver syndrome A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [PMID:18000904, url:http\://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome, url:http\://ghr.nlm.nih.gov/condition/adams-oliver-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract] Adams Oliver syndrome EXACT [] DOID:0060228 intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [url:http\://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, url:http\://radiopaedia.org/articles/saccular-cerebral-aneurysm, url:http\://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/] saccular cerebral aneurysm EXACT [] DOID:0060229 Baraitser-Winter syndrome A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. [url:http\://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome] DOID:0060230 basal ganglia calcification A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [url:http\://en.wikipedia.org/wiki/Fahr%27s_syndrome, url:http\://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract] idiopathic basal ganglia calcification EXACT [] DOID:0060231 Bruck syndrome A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [url:http\://en.wikipedia.org/wiki/Bruck_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/9129737] osteogenesis imperfecta with congenital joint contractures EXACT [] DOID:0060232 branchiootic syndrome A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22901925, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract] branchiootic dysplasia EXACT [] DOID:0060233 cardiofaciocutaneous syndrome A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. [url:http\://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, url:http\://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract] CFC syndrome EXACT [] DOID:0060234 Carpenter syndrome An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [url:http\://en.wikipedia.org/wiki/Carpenter_syndrome, url:http\://ghr.nlm.nih.gov/condition/carpenter-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract] acrocephalopolysyndactyly type II EXACT [] DOID:0060235 carnitine palmitoyltransferase II deficiency A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [url:http\://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency, url:http\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency] lethal neonatal carnitine palmitoyltransferase II deficiency EXACT [] DOID:0060236 xanthinuria A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. [url:http\://en.wikipedia.org/wiki/Xanthinuria, url:http\://www.ncbi.nlm.nih.gov/pubmed/4369449] xanthine oxidase deficiency EXACT [] DOID:0060237 Warburg micro syndrome An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. [url:http\://en.wikipedia.org/wiki/Micro_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/22768674] Warburg-Sjo-Fledelius syndrome EXACT [] DOID:0060238 Van Maldergem syndrome A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1633641] cerebro-facio-articular syndrome EXACT [] DOID:0060239 Van der Woude syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. [url:http\://en.wikipedia.org/wiki/Van_der_Woude_syndrome, url:http\://ghr.nlm.nih.gov/condition/van-der-woude-syndrome] lip-pit syndrome RELATED [] DOID:0060240 UV-sensitive syndrome An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). [url:http\://en.wikipedia.org/wiki/UV-sensitive_syndrome, url:http\://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome] DOID:0060241 3-M syndrome An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [url:http\://en.wikipedia.org/wiki/3-M_syndrome, url:http\://ghr.nlm.nih.gov/condition/3-m-syndrome] Yakut short stature syndrome EXACT [] DOID:0060242 synpolydactyly A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene. [url:http\://en.wikipedia.org/wiki/Synpolydactyly, url:http\://www.ncbi.nlm.nih.gov/pubmed/18177473, url:http\://www.ncbi.nlm.nih.gov/pubmed/8817328] syndactyly type 2 EXACT [] DOID:0060243 stuttering An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. [url:http\://en.wikipedia.org/wiki/Stuttering, url:http\://www.asha.org/public/speech/disorders/stuttering.htm, url:http\://www.merriam-webster.com/dictionary/stutter] stammering EXACT [] DOID:0060244 specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. [url:http\://en.wikipedia.org/wiki/Specific_language_impairment, url:http\://www.ncbi.nlm.nih.gov/pubmed/19646677] DOID:0060245 Mast syndrome A hereditary spastic paraplegia associated with dementia. [url:http\://ghr.nlm.nih.gov/gene/SPG21, url:http\://www.ncbi.nlm.nih.gov/pubmed/6024251] autosomal recessive spastic paraplegia 21 EXACT [] DOID:0060246 MASA syndrome A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [url:http\://en.wikipedia.org/wiki/MASA_syndrome, url:http\://ghr.nlm.nih.gov/condition/l1-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract] X-linked corpus callosum agenesis EXACT [] DOID:0060247 Smith-McCort dysplasia An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1216821] DOID:0060248 Simpson-Golabi-Behmel syndrome An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. [url:http\://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, url:http\://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/982/viewAbstract] X-linked dysplasia gigantism syndrome EXACT [] DOID:0060249 scoliosis A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. [url:http\://en.wikipedia.org/wiki/Scoliosis, url:http\://ghr.nlm.nih.gov/glossary=scoliosis, url:http\://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140] DOID:0060250 idiopathic scoliosis A scoliosis with no known cause. [url:http\://en.wikipedia.org/wiki/Scoliosis] DOID:0060251 sclerosteosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. [url:http\://en.wikipedia.org/wiki/Sclerostin#Clinical_significance, url:http\://www.ncbi.nlm.nih.gov/pubmed/11836356] DOID:0060252 sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. [url:http\://en.wikipedia.org/wiki/Sclerocornea, url:http\://www.ncbi.nlm.nih.gov/pubmed/3994576] isolated congenital sclerocornea EXACT [] DOID:0060253 scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. [url:http\://www.ncbi.nlm.nih.gov/pubmed/28179901] DOID:0060254 Robinow syndrome A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [url:http\://en.wikipedia.org/wiki/Robinow_syndrome, url:http\://ghr.nlm.nih.gov/condition/robinow-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract] Robinow dwarfism EXACT [] DOID:0060255 rippling muscle disease A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. [url:http\://ghr.nlm.nih.gov/condition/rippling-muscle-disease] DOID:0060256 Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. [url:http\://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, url:http\://ghr.nlm.nih.gov/condition/dowling-degos-disease] reticular pigment anomaly of flexures EXACT [] DOID:0060257 dyschromatosis symmetrica hereditaria A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. [url:http\://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria, url:http\://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15, url:http\://www.ncbi.nlm.nih.gov/pubmed/22974014] reticulate acropigmentation of Dohi EXACT [] DOID:0060258 reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22808308] RAPK EXACT [] DOID:0060259 renal-hepatic-pancreatic dysplasia A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. [url:http\://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia, url:http\://www.ncbi.nlm.nih.gov/pubmed/17605805] Ivemark's syndrome EXACT [] DOID:0060260 ptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid. [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29] drooping eyelid EXACT [] DOID:0060261 congenital ptosis A ptosis characterized by eyelid drop present at birth. [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29, url:http\://eyewiki.aao.org/Ptosis\,_Congenital] DOID:0060262 gallbladder disease A gastrointestinal system disease that is located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Gallbladder_disease, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null] DOID:0060263 porencephaly DOID:0060264 pontocerebellar hypoplasia PCH EXACT [] DOID:0060265 pontocerebellar hypoplasia type 1A DOID:0060266 pontocerebellar hypoplasia type 1B DOID:0060267 pontocerebellar hypoplasia type 2A DOID:0060268 pontocerebellar hypoplasia type 2B DOID:0060269 pontocerebellar hypoplasia type 2C DOID:0060270 pontocerebellar hypoplasia type 2D DOID:0060271 pontocerebellar hypoplasia type 2E DOID:0060272 pontocerebellar hypoplasia type 3 DOID:0060273 pontocerebellar hypoplasia type 4 DOID:0060274 pontocerebellar hypoplasia type 5 DOID:0060275 pontocerebellar hypoplasia type 6 DOID:0060276 pontocerebellar hypoplasia type 7 DOID:0060277 pontocerebellar hypoplasia type 8 DOID:0060278 pontocerebellar hypoplasia type 9 DOID:0060279 pontocerebellar hypoplasia type 10 DOID:0060280 primary pigmented nodular adrenocortical disease An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. [url:http\://www.ncbi.nlm.nih.gov/pubmed/2212318] DOID:0060281 photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. [url:http\://en.wikipedia.org/wiki/Photosensitive_epilepsy] photoparoxysmal response EXACT [] DOID:0060282 persistent hyperplastic primary vitreous DOID:0060283 peeling skin syndrome DOID:0060284 paroxysmal nocturnal hemoglobinuria DOID:0060285 parietal foramina hereditary cranium bifidum EXACT [] DOID:0060286 combined oxidative phosphorylation deficiency DOID:0060287 cornea plana flat cornea EXACT [] DOID:0060288 omodysplasia DOID:0060289 Ohdo syndrome A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. [url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple] Ohdo blepharophimosis syndrome EXACT [] DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type SBBYSS RELATED [] DOID:0060291 oculodentodigital dysplasia A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. [PMID:12021949, url:http\://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia, url:https\://en.wikipedia.org/wiki/Oculodentodigital_dysplasia] ODD syndrome EXACT [] DOID:0060292 X-linked chondrodysplasia punctata chondrodystrophia calcificans congenita EXACT [] DOID:0060293 autosomal dominant chondrodysplasia punctata DOID:0060294 cold-induced sweating syndrome An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. [url:http\://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/] Sohar-Crisponi syndrome EXACT [] DOID:0060295 complement component 2 deficiency DOID:0060296 congenital secretory chloride diarrhea 1 A secretory diarrhea caused_by mutation in the SLC26A3 gene. [OMIM:214700] congenital chloridorrhea EXACT [] DOID:0060297 complement component 4a deficiency DOID:0060298 complement component 4b deficiency DOID:0060299 complement component 6 deficiency DOID:0060300 complement component 7 deficiency DOID:0060301 type I complement component 8 deficiency DOID:0060302 type II complement component 8 deficiency DOID:0060303 complement component 9 deficiency DOID:0060304 dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. [url:http\://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, url:http\://www.ncbi.nlm.nih.gov/pubmed/12372090] DOID:0060305 megalocornea A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene. [url:http\://en.wikipedia.org/wiki/Megalocornea, url:http\://ghr.nlm.nih.gov/gene/CHRDL1, url:http\://www.ncbi.nlm.nih.gov/pubmed/6849653] congenital anterior megalophthalmia EXACT [] DOID:0060306 Meier-Gorlin syndrome An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. [url:http\://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome, url:http\://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/14564153] ear-patella-short stature syndrome EXACT [] DOID:0060307 autosomal dominant non-syndromic intellectual disability A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21124998] autosomal dominant non-syndromic mental retardation EXACT [] DOID:0060308 autosomal recessive non-syndromic intellectual disability A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21124998] autosomal recessive non-syndromic mental retardation EXACT [] DOID:0060309 syndromic X-linked intellectual disability A syndromic intellectual characterized by an X-linked inheritance pattern. [url:http\://en.wikipedia.org/wiki/X-linked_intellectual_disability] syndromic X-linked mental retardation EXACT [] DOID:0060310 uvulitis An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. [url:http\://en.wikipedia.org/wiki/Palatine_uvula#Inflammation, url:http\://www.ncbi.nlm.nih.gov/pubmed/8285973] acute uvulitis EXACT [] DOID:0060311 adenoid hypertrophy An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing. [url:http\://en.wikipedia.org/wiki/Adenoid_hypertrophy, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/21126775, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001649.htm] enlarged adenoids EXACT [] DOID:0060312 angular cheilitis A cheilitis characterized by inflammation of one or both of the corners of the mouth. [url:http\://en.wikipedia.org/wiki/Angular_cheilitis] commissural cheilitis EXACT [] DOID:0060313 tracheomalacia A tracheal disease characterized by flaccidity of the tracheal support cartilage. [url:http\://en.wikipedia.org/wiki/Tracheomalacia] congenital tracheomalacia EXACT [] DOID:0060314 persistent generalized lymphadenopathy A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. [ISBN:978-0-443-06839-3, url:http\://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy] PGL EXACT [] DOID:0060315 oral hairy leukoplakia A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. [url:http\://en.wikipedia.org/wiki/Hairy_leukoplakia] hairy leukoplakia EXACT [] DOID:0060316 orofaciodigital syndrome I An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene. [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1] Papillon-Leage-Psaume syndrome EXACT [] DOID:0060317 lung abscess A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. [url:http\://en.wikipedia.org/wiki/Lung_abscess] DOID:0060318 acute promyelocytic leukemia An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. [url:http\://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia, url:http\://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia] APL EXACT [] DOID:0060319 cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. [ISBN:0-07-140235-7, url:http\://en.wikipedia.org/wiki/Cardiac_arrest, url:http\://www.nlm.nih.gov/medlineplus/cardiacarrest.html] circulatory arrest EXACT [] DOID:0060320 inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. [url:http\://en.wikipedia.org/wiki/Inguinal_hernia] DOID:0060321 umbilical hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. [url:en.wikipedia.org/wiki/Umbilical_hernia, url:http\://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630] DOID:0060322 mastoiditis A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. [url:http\://en.wikipedia.org/wiki/Mastoiditis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001034.htm] DOID:0060323 breast abscess A breast disease characterized by a collection of pus in the breast. [url:http\://en.wikipedia.org/wiki/Mastitis#Breast_abscess] DOID:0060324 dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. [url:http\://en.wikipedia.org/wiki/Dental_abscess] DOID:0060325 cervical polyp A cervix disease characterized by a benign polyp on the surface of the cervical canal. [ISBN:3-7186-5857-7, url:http\://en.wikipedia.org/wiki/Cervical_polyp] DOID:0060326 myelomeningocele A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. [url:http\://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001558.htm] DOID:0060327 omphalocele A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. [url:http\://en.wikipedia.org/wiki/Omphalocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000994.htm] omphalocoele EXACT [] DOID:0060328 anal fistula An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. [url:http\://en.wikipedia.org/wiki/Anal_fistula] DOID:0060329 ectopic pregnancy A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. [url:http\://en.wikipedia.org/wiki/Ectopic_pregnancy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000895.htm] eccyesis EXACT [] DOID:0060330 Rapp-Hodgkin syndrome An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [url:http\://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1] anhidrotic ectodermal dysplasia with cleft lip/palate EXACT [] DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21. [url:http\://omim.org/entry/614052] neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency EXACT [] DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13. [url:http\://omim.org/entry/614053] MC5DN3 EXACT [] DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q. [url:http\://omim.org/entry/615228] MC5DN4 EXACT [] DOID:0060334 transient neonatal diabetes mellitus A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. [PMID:17349054, url:http\://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus] DOID:0060335 autosomal dominant sideroblastic anemia A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia] DOID:0060336 3-methylglutaconic aciduria DOID:0060337 CEDNIK syndrome An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. [PMID:21073448] cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome EXACT [OMIM:609528] DOID:0060338 parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. [PMID:10717216, PMID:23021437] DOID:0060339 chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). [PMID:25282101] CAID syndrome EXACT [PMID:25282101] DOID:0060340 ciliopathy A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. [PMID:18178628, PMID:21210154, url:http\://en.wikipedia.org/wiki/Ciliopathy] DOID:0060341 agnathia-otocephaly complex A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [PMID:17438667] otocephaly EXACT [OMIM:202650] DOID:0060342 acromelic frontonasal dysostosis A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. [PMID:15264282] DOID:0060343 glucocorticoid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. [PMID:17566815, PMID:22870429] steroid-induced osteoporosis EXACT [] DOID:0060344 acrodermatitis chronica atrophicans An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [url:http\://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, url:www.dermis.net/dermisroot/en/35111/diagnose.htm] primary diffuse atrophy EXACT [] DOID:0060345 bacillary angiomatosis A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. [PMID:9407154, url:http\://en.wikipedia.org/wiki/Bacillary_angiomatosis] DOID:0060346 Native American myopathy A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13. [OMIM:255995, PMID:18553514] DOID:0060347 acrorenal syndrome A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. [PMID:26019842] DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. [PMID:15645691, PMID:24339556] Sanjad-Sakati syndrome EXACT [] DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [PMID:10482868, PMID:11302131, PMID:5936364] microcephaly, lymphedema, chorioretinal dysplasia syndrome EXACT [] DOID:0060350 adenine phosphoribosyltransferase deficiency An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. [PMID:20150536, url:http\://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, url:https\://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency] APRT deficiency EXACT [] DOID:0060351 mitochondrial complex III deficiency nuclear type 2 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. [PMID:21278747, url:http\://www.omim.org/entry/615157] MC3DN2 EXACT [] DOID:0060352 Kleefstra syndrome A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. [PMID:15264279, PMID:21245904, url:http\://ghr.nlm.nih.gov/condition/kleefstra-syndrome, url:https\://en.wikipedia.org/wiki/9q34_deletion_syndrome] 9q34 deletion syndrome EXACT [] DOID:0060353 acrofacial dysostosis Cincinnati type An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11. [PMID:25913037] DOID:0060354 Stormorken syndrome A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern. [PMID:24619930, PMID:25577287, url:http\://ghr.nlm.nih.gov/condition/stormorken-syndrome] thrombocytopathy, asplenia and miosis EXACT [] DOID:0060355 amyotrohpic lateral sclerosis type 22 An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35. [url:http\://omim.org/entry/616208] amyotrophic lateral sclerosis 22 EXACT [] DOID:0060356 Vici syndrome An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined\nimmunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3. [PMID:21965116, PMID:23222957, url:https\://en.wikipedia.org/wiki/Vici_syndrome] immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum EXACT [] DOID:0060357 chylomicron retention disease A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1. [PMID:10521380, PMID:20920215, PMID:3430059, PMID:3792776, url:https\://en.wikipedia.org/wiki/Chylomicron_retention_disease] CMRD EXACT [] DOID:0060358 multiple acyl-CoA dehydrogenase deficiency An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [PMID:12815589, PMID:22580358, url:http\://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii, url:https\://en.wikipedia.org/wiki/Glutaric_acidemia_type_2] MADD EXACT [] DOID:0060359 Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [url:https\://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome] Sakati-Nyhan-Tisdale syndrome EXACT [] DOID:0060360 hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. [PMID:16409913] DOID:0060361 punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a \raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." [url:https\://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate] punctate palmoplantar hyperkeratosis EXACT [] DOID:0060362 punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma type 3 EXACT [] DOID:0060363 glycerol kinase deficiency An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21. [PMID:22427807, url:https\://en.wikipedia.org/wiki/Glycerol_kinase_deficiency] DOID:0060364 Galloway-Mowat syndrome An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. [PMID:20083416, PMID:26123727, url:https\://en.wikipedia.org/wiki/Galloway_Mowat_syndrome] nephrosis-neuronal dysmigration syndrome EXACT [] DOID:0060365 mandibulofacial dysostosis with alopecia A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. [PMID:25772936] MFDA EXACT [] DOID:0060366 Hennekam syndrome A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. [PMID:14564208, PMID:24870712, PMID:2624276, url:http\://ghr.nlm.nih.gov/condition/hennekam-syndrome, url:https\://en.wikipedia.org/wiki/Hennekam_syndrome] lymphedem-lymphangiectasia-intellectual disability syndrome EXACT [] DOID:0060367 autosomal dominant Parkinson disease 1 A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1. [PMID:22315721, url:http\://www.omim.org/entry/168601] PARK1 EXACT [] DOID:0060368 autosomal recessive juvenile Parkinson disease 2 A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27. [PMID:22315721] PARK2 EXACT [] DOID:0060369 early-onset Parkinson disease 6 A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12. [PMID:22315721] PARK6 EXACT [] DOID:0060370 autosomal recessive early-onset Parkinson disease 7 A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [PMID:22315721] PARK7 EXACT [] DOID:0060371 autosomal dominant Parkinson disease 8 A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12. [PMID:22315721] PARK8 EXACT [] DOID:0060372 autosomal recessive early-onset Parkinson disease 15 A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3. [PMID:22315721] Parkinsonian-pyramidal syndrome EXACT [] DOID:0060373 orofaciodigital syndrome III Sugarman syndrome EXACT [] DOID:0060374 orofaciodigital syndrome IV OFD4 EXACT [] DOID:0060375 orofaciodigital syndrome V polydactyly, postaxial, with median cleft of upper lip EXACT [] DOID:0060376 Joubert syndrome with orofaciodigital defect A Joubert syndrome subtype with orofaciodigital defect. [PMID:23716954] Varadi-Papp syndrome EXACT [] DOID:0060377 orofaciodigital syndrome VII Whelan syndrome EXACT [] DOID:0060378 orofaciodigital syndrome VIII OFD8 EXACT [] DOID:0060379 acrofacial dysostosis DOID:0060380 orofaciodigital syndrome X orofaciodigital syndrome with fibular aplasia EXACT [] DOID:0060381 orofaciodigital syndrome XI DOID:0060382 orofaciodigital syndrome IX orofaciodigital syndrome with retinal abnormalities EXACT [] DOID:0060383 acrofacial dysostosis Rodriguez type acrofacial dysostosis, syndrome of Rodriguez EXACT [] DOID:0060384 acrofacial dysostosis, Catania type Opitz-Caltabiano syndrome EXACT [] DOID:0060385 acrofacial dysostosis, Patagonia type DOID:0060386 Chilblain lupus DOID:0060387 chondrodysplasia Blomstrand type Blomstrand lethal chondrodysplasia EXACT [] DOID:0060388 chromosomal deletion syndrome DOID:0060389 chromosome 10q23 deletion syndrome DOID:0060390 distal 10q deletion syndrome terminal chromosome 10q26 deletion syndrome EXACT [] DOID:0060391 chromosome 13q14 deletion syndrome deletion 13q14 EXACT [] DOID:0060392 chromosome 14q11-q22 deletion syndrome 14q11.2 microdeletion syndrome EXACT [] DOID:0060393 chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion syndrome EXACT [] DOID:0060394 chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion syndrome EXACT [] DOID:0060395 chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome EXACT [] DOID:0060396 chromosome 15q25 deletion syndrome DOID:0060397 chromosome 15q26-qter deletion syndrome telomeric 15q deletion syndrome EXACT [] DOID:0060398 chromosome 16p11.2 deletion syndrome, 220kb distal 16p11.2 microdeletion syndrome EXACT [] DOID:0060399 chromosome 16p12.1 deletion syndrome, 520kb DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome 16p11.2p12.2 microdeletion syndrome EXACT [] DOID:0060401 chromosome 16q22 deletion syndrome DOID:0060402 chromosome 17p13.1 deletion syndrome DOID:0060403 chromosome 17q11.2 deletion syndrome, 1.4Mb Van Asperen syndrome EXACT [] DOID:0060404 chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome EXACT [] DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome 17q23.1q23.2 microdeletion syndrome EXACT [] DOID:0060406 chromosome 18p deletion syndrome monosomy 18p EXACT [] DOID:0060407 chromosome 18q deletion syndrome monosomy 18q EXACT [] DOID:0060408 chromosome 19q13.11 deletion syndrome monosomy 19q13.11 EXACT [] DOID:0060409 chromosome 1p32-p31 deletion syndrome 1p31p32 microdeletion syndrome EXACT [] DOID:0060410 chromosome 1p36 deletion syndrome subtelomeric 1p36 deletion RELATED [] DOID:0060411 chromosome 1q21.1 deletion syndrome monosomy 1q21.1 RELATED [] DOID:0060412 chromosome 1q41-q42 deletion syndrome 1q41q42 microdeletion syndrome EXACT [] DOID:0060413 chromosome 22q11.2 deletion syndrome, distal distal 22q11.2 microdeletion syndrome EXACT [] DOID:0060414 chromosome 2p12-p11.2 deletion syndrome DOID:0060415 chromosome 2p16.1-p15 deletion syndrome 2p15p16.1 microdeletion syndrome EXACT [] DOID:0060416 chromosome 2q31.2 deletion syndrome DOID:0060417 3p- syndrome distal monosomy 3p EXACT [] DOID:0060418 chromosome 3q13.31 deletion syndrome monosomy 3q13 EXACT [] DOID:0060419 chromosome 3q29 microdeletion syndrome 3qter deletion EXACT [] DOID:0060420 chromosome 4q21 deletion syndrome monosomy 4q21 EXACT [] DOID:0060421 chromosome 5q12 deletion syndrome DOID:0060422 chromosome 6pter-p24 deletion syndrome distal monosomy 6p EXACT [] DOID:0060423 chromosome 6q11-q14 deletion syndrome DOID:0060424 chromosome 6q24-q25 deletion syndrome monosomy 6q25 EXACT [] DOID:0060425 chromosome 8q21.11 deletion syndrome 8q21.11 microdeletion syndrome EXACT [] DOID:0060426 chromosome 19p13.13 deletion syndrome DOID:0060427 chromosome Xp21 deletion syndrome Xp21 microdeletion syndrome EXACT [] DOID:0060428 chromosome 2q32-q33 deletion syndrome monosomy 2q32q33 EXACT [] DOID:0060429 chromosomal duplication syndrome DOID:0060430 chromosome 16p11.2 duplication syndrome proximal trisomy 16p11.2 EXACT [] DOID:0060431 chromosome 16p13.3 duplication syndrome telomeric duplication 16p EXACT [] DOID:0060432 chromosome 17p13.3 duplication syndrome trisomy 17p13.3 EXACT [] DOID:0060433 chromosome 17q12 duplication syndrome trisomy 17q12 EXACT [] DOID:0060434 chromosome 17q21.31 duplication syndrome trisomy 17q21.31 EXACT [] DOID:0060435 chromosome 1q21.1 duplication syndrome trisomy 1q21.1 EXACT [] DOID:0060436 chromosome 22q11.2 microduplication syndrome trisomy 22q11.2 EXACT [] DOID:0060437 chromosome 22q13 duplication syndrome DOID:0060438 Cole-Carpenter syndrome An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. [PMID:10842295] DOID:0060439 lysinuric protein intolerance An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [PMID:1155480, url:http\://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, url:http\://www.ncbi.nlm.nih.gov/books/NBK1361/, url:https\://en.wikipedia.org/wiki/Lysinuric_protein_intolerance] LPI EXACT [] DOID:0060440 epithelial and subepithelial dystrophy DOID:0060441 epithelial-stromal TGFBI dystrophy DOID:0060442 stromal dystrophy DOID:0060443 endothelial dystrophy DOID:0060444 granular corneal dystrophy type II granular corneal dystrophy type 2 EXACT [] DOID:0060445 congenital stromal corneal dystrophy CSCD EXACT [] DOID:0060446 X-linked endothelial corneal dystrophy XECD EXACT [] DOID:0060447 epithelial basement membrane dystrophy microcystic corneal dystrophy EXACT [] DOID:0060448 Fleck corneal dystrophy Francois-Neetens speckled corneal dystrophy EXACT [] DOID:0060449 gelatinous drop-like corneal dystrophy subepithelial amyloidosis of the cornea EXACT [] DOID:0060450 Lisch epithelial corneal dystrophy LECD EXACT [] DOID:0060451 Meesmann corneal dystrophy Stocker-Holt dystrophy EXACT [] DOID:0060452 posterior amorphous corneal dystrophy PACD EXACT [] DOID:0060453 Reis-Bucklers corneal dystrophy RBCD EXACT [] DOID:0060454 subepithelial mucinous corneal dystrophy SMCD EXACT [] DOID:0060455 Thiel-Behnke corneal dystrophy Waardenburg-Jonker corneal dystrophy EXACT [] DOID:0060456 Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy EXACT [] DOID:0060457 posterior polymorphous corneal dystrophy Schlichting dystrophy EXACT [] DOID:0060458 chromosome 2q31.1 duplication syndrome DOID:0060459 chromosome 3q29 microduplication syndrome trisomy 3q29 EXACT [] DOID:0060460 chromosome 5p13 duplication syndrome trisomy 5p13 EXACT [] DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome trisomy Xp11.22-p11.23 EXACT [] DOID:0060462 Desbuquois dysplasia An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [PMID:19853239, PMID:21037275] micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification EXACT [] DOID:0060463 NUT midline carcinoma A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. [PMID:21221870, PMID:25685583, PMID:26378054, PMID:26402248, url:https\://en.wikipedia.org/wiki/NUT_midline_carcinoma, url:https\://omim.org/entry/608749, url:https\://omim.org/entry/608963] nuclear protein in testis midline carcinoma EXACT [] DOID:0060464 Feingold syndrome An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [PMID:14518066, PMID:16906565, url:http\://ghr.nlm.nih.gov/condition/feingold-syndrome, url:https\://en.wikipedia.org/wiki/Feingold_syndrome] ODED syndrome EXACT [] DOID:0060465 fibrochondrogenesis DOID:0060466 gingival fibromatosis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. [PMID:11868160, PMID:17385395] hereditary gingival hyperplasia EXACT [] DOID:0060467 humeroradial synostosis humero-radial fusion RELATED [] DOID:0060468 Holt-Oram syndrome An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. [PMID:12223419, PMID:12436037, url:http\://ghr.nlm.nih.gov/condition/holt-oram-syndrome, url:https\://en.wikipedia.org/wiki/Holt-Oram_syndrome] heart-hand syndrome EXACT [] DOID:0060469 Miller-Dieker lissencephaly syndrome A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. [PMID:21239872, PMID:9473821, url:http\://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, url:https\://en.wikipedia.org/wiki/Miller-Dieker_syndrome] Miller-Dieker syndrome EXACT [] DOID:0060470 salt and pepper syndrome An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. [PMID:24026681] salt-and-pepper syndrome EXACT [] DOID:0060471 fetal valproate syndrome A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. [PMID:17090909, PMID:25400349] fetal valproic acid syndrome EXACT [] DOID:0060472 Kindler syndrome A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [PMID:12668616, url:https\://en.wikipedia.org/wiki/Kindler_syndrome] poikiloderma of Kindler EXACT [] DOID:0060473 Kabuki syndrome A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [PMID:25281733, PMID:25972376, PMID:26512256, url:http\://ghr.nlm.nih.gov/condition/kabuki-syndrome, url:https\://en.wikipedia.org/wiki/Kabuki_syndrome] Niikawa-Kuroki syndrome EXACT [] DOID:0060474 Chuvash polycythemia Chuvash type polycythemia EXACT [] DOID:0060475 childhood onset epileptic encephalopathy An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. [PMID:23708187, PMID:24207121, url:http\://omim.org/entry/615369] EEOC EXACT [] DOID:0060476 Perlman syndrome A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. [PMID:18780370, PMID:22306653, url:https\://en.wikipedia.org/wiki/Perlman_syndrome] renal hamartomas, nephroblastomatosis and fetal gigantism EXACT [] DOID:0060478 Zika fever A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes. [url: http\://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx, url: https\://en.wikipedia.org/wiki/Zika_fever] DOID:0060479 Shwachman-Diamond syndrome A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [PMID:18356737, PMID:22201042, url:http\://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome, url:https\://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome] Shwachman-Bodian-Diamond syndrome EXACT [] DOID:0060480 left ventricular noncompaction An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. [PMID:16567565] left ventricular hypertrabeculation EXACT [] DOID:0060481 Goldberg-Shprintzen syndrome A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. [PMID:15883926, PMID:23427148, url:https\://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome] Goldberg-Shprintzen megacolon syndrome EXACT [] DOID:0060482 oculoauricular syndrome A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. [PMID:18423520, PMID:25574057] DOID:0060483 MEDNIK syndrome A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. [PMID:23423674, PMID:24754424] mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia EXACT [] DOID:0060484 EAST syndrome A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [PMID:19289823, PMID:19420365, PMID:23471908] SeSAME syndrome EXACT [] DOID:0060485 Mowat-Wilson syndrome A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [PMID:17958891, PMID:23466526] microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease EXACT [] DOID:0060486 Perry syndrome A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. [url:http\://www.ncbi.nlm.nih.gov/books/NBK47027/] parkinsonism with alveolar hypoventilation and mental depression EXACT [] DOID:0060488 Pitt-Hopkins syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. [PMID:17436255, PMID:26621827, PMID:728011, url:http\://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, url:https\://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome] DOID:0060490 Schimke immuno-osseous dysplasia A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules and an unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It is caused by mutations in the SMARCAL1 gene. [ISBN:0124058604, PMID:10653321, url:http\://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1376/] spondyloepiphyseal dysplasia - nephrotic syndrome EXACT [] DOID:0060491 SPOAN syndrome A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It is caused by homozygous mutation in the KLC2 gene on chromosome 11q13.2. [PMID:15852396, PMID:26385635] spastic paraplegia, optic atropy, and neuropathy syndrome EXACT [] DOID:0060492 chicken egg allergy An egg allergy triggered by Gallus gallus eggs. [] Gallus gallus egg allergy EXACT [] DOID:0060495 shellfish allergy A food allergy triggered by Crustacea or Mollusca. [] DOID:0060496 respiratory allergy A hypersensitivity reaction type I disease located in the respiratory tract. [] airway allergy EXACT [] DOID:0060497 pollen allergy A respiratory allergy triggered by pollen. [] DOID:0060498 Timothy grass allergy A pollen allergy triggered by Phleum pratense pollen. [] DOID:0060499 autoimmune neuropathy An autoimmune disease of centreal nervous system caused by an autoimmune response. [] DOID:0060500 drug allergy A hypersensitivity reaction type I disease triggered by a drug. [] DOID:0060501 metal allergy A hypersensitivity reaction type I disease triggered by a metal. [] DOID:0060502 gastrointestinal allergy A hypersensitivity reaction type I disease located in the gastrointestinal tract. [] DOID:0060503 fruit allergy A food allergy triggered by a plant fruit product. [] DOID:0060504 apple allergy A fruit allergy triggered by Malus domestica plant fruit food product. [] Malus domestica fruit allergy EXACT [] DOID:0060505 apricot allergy A fruit allergy triggered by Prunus armeniaca plant fruit food product. [] Prunus armeniaca fruit allergy EXACT [] DOID:0060506 cherry allergy A fruit allergy triggered by Prunus avium plant fruit food product. [] Prunus avium fruit allergy EXACT [] DOID:0060507 Indian plum allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. [] Ziziphus mauritiana fruit allergy EXACT [] DOID:0060508 orange allery A fruit allergy triggered by Citrus sinensis plant fruit food product. [] Citrus sinensis fruit allergy EXACT [] DOID:0060509 melon allergy A fruit allergy triggered by Cucumis melo plant fruit food product. [] Cucumis melo fruit allergy EXACT [] DOID:0060510 peach allergy A fruit allergy triggered by Prunus persica plant fruit food product. [] Prunus persica fruit allergy EXACT [] DOID:0060511 plum allergy A fruit allergy triggered by Prunus domestica plant fruit food product. [] Prunus domestica fruit allergy EXACT [] DOID:0060512 tomato allergy A fruit allergy triggered by Solanum lycopersicum plant fruit food product. [] Solanum lycopersicum fruit allergy EXACT [] DOID:0060513 fish allergy A food allergy triggered by fish. [] DOID:0060514 Atlantic cod allergy A fish allergy triggered by Gadus morhua. [] Gadus morhua fish allergy EXACT [] DOID:0060515 Atlantic salmon allergy A fish allergy triggered by Salmo salar. [] Salmo salar fish allergy EXACT [] DOID:0060516 carp allergy A fish allergy triggered by Cyprinus carpio. [] Cyprinus carpio fish allergy EXACT [] DOID:0060517 zebrafish allergy A fish allergy triggered by Danio rerio. [] Danio rerio allergy EXACT [] DOID:0060518 rainbow trout allergy A fish allergy triggered by Oncorhynchus mykiss. [] Oncorhynchus mykiss allergy EXACT [] DOID:0060519 beta-lactam allergy A drug allergy triggered by a beta-lactam (β-lactam). [] DOID:0060520 penicillin allergy A beta-lactam allergy triggered by penicillin. [] DOID:0060521 cow milk allergy A milk allergy triggered by Bos taurus milk. [] Bos taurus milk allergy EXACT [] DOID:0060522 goat milk allergy A milk allergy triggered by Capra hircus milk. [] Capra hircus milk allergy EXACT [] DOID:0060523 mollusc allergy A shellfish allergy triggered by Mollusca. [] DOID:0060524 crustacean allergy A shellfish allergy triggered by Crustacea. [] DOID:0060525 brown shrimp allergy A crustacean allergy triggered by Farfantepenaeus aztecus. [] Farfantepenaeus aztecus allergy EXACT [] DOID:0060526 green mud crab allergy A crustacean allergy triggered by Scylla paramamosain. [] Scylla paramamosain allergy EXACT [] DOID:0060527 Indian prawn allergy A crustacean allergy triggered by Fenneropenaeus indicus. [] Fenneropenaeus indicus allergy EXACT [] DOID:0060528 tiger prawn allergy A crustacean allergy triggered by Penaeus monodon. [] Penaeus monodon allergy EXACT [] DOID:0060529 white shrimp allergy A crustacean allergy triggered by Litopenaeus vannamei. [] Litopenaeus vannamei allergy EXACT [] DOID:0060530 snail allergy A mollusc allergy triggered by snails. [] DOID:0060531 horned turban snail allergy A snail allergy triggered by Turbo cornutus. [] Turbo cornutus allergy EXACT [] DOID:0060532 latex allergy A hypersensitivity reaction type I disease triggered by latex. [] DOID:0060534 hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. [ISBN:9789283224327] DOID:0060535 Warsaw breakage syndrome A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It is caused by homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. [PMID:20137776, PMID:21490908, PMID:23033317, PMID:26089203] WABS EXACT [] DOID:0060536 mitochondrial complex I deficiency A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can be caused by mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. [ORDO:2609, url:http\://www.omim.org/entry/252010] isolated NADH-ubiquinone reductase deficiency EXACT [] DOID:0060537 mitochondrial complex II deficiency A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It s caused by homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. [PMID:23322652] isolated succinate-ubiquinone reductase deficiency EXACT [] DOID:0060538 purpura fulminans A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal. [ORDO:49566, PMID:26955583, url:https\://en.wikipedia.org/wiki/Purpura_fulminans] purpura gangrenosa EXACT [] DOID:0070001 neoplastic disease A disease of cellular proliferation that results in an abnormal mass of tissue. [url:http\://en.wikipedia.org/wiki/Neoplasm] DOID:0070003 blastoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells. [url:en.wikipedia.org/wiki/Blastoma] DOID:0070004 myeloma A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body. [url:http\://www.merck.com/mmhe/sec14/ch175/ch175c.html#sec14-ch175-ch175c-328] DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles. [url:http\://www.nlm.nih.gov/medlineplus/muscledisorders.html] DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. [url:http\://en.wikipedia.org/wiki/Bone_disease, url:http\://www.dsls.usra.edu/meetings/bonehealth_2005/information/factsheet1.pdf] skeletal disease RELATED [] DOID:0080002 autosomal dominant disease DOID:0080003 autosomal recessive disease DOID:0080005 bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone. [url:http\://en.wikipedia.org/wiki/Bone_remodeling] DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. [url:http\://en.wikipedia.org/wiki/Dysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx] DOID:0080007 bone deterioration disease A bone structure disease that results_in change or damage of structure located_in bone. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/004015.htm] DOID:0080008 ischemic bone disease A bone disease that results_in an interruption of blood supply located_in bone. [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm] DOID:0080009 X-linked dominant disease DOID:0080010 bone structure disease A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. [url:http\://en.wikipedia.org/wiki/Human_skeleton] DOID:0080011 bone resorption disease A bone remodeling disease that results in an abnormal decrease of bone density or mass. [url:http\://en.wikipedia.org/wiki/Bone_resorption, url:http\://www.ncbi.nlm.nih.gov/pubmed/11277085] DOID:0080012 X-linked recessive disease DOID:0080013 mitochondrial disease DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. [url:http\://en.wikipedia.org/wiki/Chromosome_abnormality, url:http\://www.genome.gov/11508982#al-5, url:http\://www.rarechromo.org/html/chromosomesanddisorders.asp] DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. [url:http\://en.wikipedia.org/wiki/Congenital_disorder] DOID:0080016 spina bifida DOID:0080017 olivopontocerebellar atrophy V OPCA with dementia and extrapyramidal signs EXACT [] DOID:0080018 dysbaric osteonecrosis An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. [url:http\://en.wikipedia.org/wiki/Dysbaric_osteonecrosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/d/dysbaric_osteonecrosis.aspx] DON EXACT [] DOID:0080019 metaphyseal dysplasia An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. [url:http\://en.wikipedia.org/wiki/Metaphyseal_dysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx] Pyle-Cohn syndrome EXACT [] DOID:0080020 Jansen's metaphyseal chondrodysplasia A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. [url:http\://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype] Murk Jansen Type Metaphyseal Chondrodysplasia EXACT [] DOID:0080021 Schmid metaphyseal chondrodysplasia A metaphyseal dysplasia that results_in dwarfism and bowed legs. [url:http\://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia, url:http\://www.cigna.com/healthinfo/nord960.html, url:http\://www.ncbi.nlm.nih.gov/omim/156500] Schmid type metaphyseal dysplasia EXACT [] DOID:0080022 McKusick type metaphyseal dysplasia A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair. [url:http\://children.webmd.com/mckusick-type-metaphyseal-chondrodysplasia, url:http\://www.cigna.com/healthinfo/nord636.html, url:http\://www.medterms.com/script/main/art.asp?articlekey=15730, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=McKusick%20Type%20Metaphyseal%20Chondrodysplasia] Cartilage-Hair Hypoplasia EXACT [] DOID:0080023 Shwachman-Diamond type metaphyseal dysplasia DOID:0080024 Pyles dysplasia DOID:0080025 spondyloepiphyseal dysplasia congenita DOID:0080026 otospondylomegaepiphyseal dysplasia An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. [url:http\://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, url:http\://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, url:http\://www.ncbi.nlm.nih.gov/omim/215150] NANCE-SWEENEY CHONDRODYSPLASIA EXACT [] DOID:0080027 spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252] DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, url:http\://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346] DOID:0080029 autosomal recessive spinocerebellar ataxia 16 DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. [url:http\://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/602111, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple] DOID:0080031 fibrous dysplasia A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. [url:http\://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00083, url:http\://www.fibrousdysplasia.org/, url:http\://www.mayoclinic.com/health/fibrous-dysplasia/DS00991, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001234.htm] DOID:0080032 craniodiaphyseal dysplasia An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. [url:http\://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513] DOID:0080033 craniometaphyseal dysplasia An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. [url:http\://children.webmd.com/craniometaphyseal-dysplasia, url:http\://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia] DOID:0080034 endosteal hyperostosis A hyperostosis of endosteal bone. [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx] DOID:0080036 SOST-related sclerosing bone dysplasia A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. [url:http\://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx, url:http\://www.healthline.com/galecontent/sclerosing-bone-dysplasias, url:http\://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785, url:http\://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/269500, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152] van Buchem disease EXACT [] DOID:0080037 Worth's syndrome A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. [url:http\://en.wikipedia.org/wiki/Worth_syndrome, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/144750] Worth syndrome EXACT [] DOID:0080038 pycnodysostosis An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. [url:http\://en.wikipedia.org/wiki/Pycnodysostosis, url:http\://rarediseases.info.nih.gov/GARD/Condition/4611/Pycnodysostosis.aspx, url:http\://www.medicinenet.com/pycnodysostosis/article.htm, url:http\://www.ncbi.nlm.nih.gov/omim/265800, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=571&Disease_Disease_Search_diseaseGroup=Pycnodysostosis&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Pycnodysostosis&title=Pycnodysostosis&search=Disease_Search_Simple] DOID:0080039 axial osteomalacia An osteosclerosis that results_in coarsening located_in trabecular bone. [url:http\://en.wikipedia.org/wiki/Axial_osteomalacia, url:http\://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/109130] DOID:0080040 fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/7559718] Baker's disease EXACT [] DOID:0080041 hypochondroplasia An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. [url:http\://en.wikipedia.org/wiki/Hypochondroplasia, url:http\://ghr.nlm.nih.gov/condition/hypochondroplasia, url:http\://www.healthline.com/galecontent/hypochondroplasia, url:http\://www.mcllr.com/sinaibody.cfm?id=1523, url:http\://www.medterms.com/script/main/art.asp?articlekey=9068, url:http\://www.ncbi.nlm.nih.gov/books/NBK1477/, url:http\://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro.html, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hypochondroplasia] DOID:0080042 autosomal recessive spinocerebellar ataxia 18 DOID:0080043 achondrogenesis An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. [url:http\://en.wikipedia.org/wiki/Achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, url:http\://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis] DOID:0080044 hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. [url:http\://en.wikipedia.org/wiki/Hypochondrogenesis, url:http\://ghr.nlm.nih.gov/condition/hypochondrogenesis, url:http\://www.healthline.com/galecontent/hypochondrogenesis] DOID:0080045 Kniest dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. [url:http\://ghr.nlm.nih.gov/condition/kniest-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6841, url:http\://www.ksginfo.org/kniest.html] DOID:0080046 Stickler syndrome DOID:0080047 pseudoachondroplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. [url:http\://en.wikipedia.org/wiki/Pseudoachondroplasia, url:http\://ghr.nlm.nih.gov/condition/pseudoachondroplasia, url:http\://www.healthline.com/galecontent/pseudoachondroplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, url:http\://www.wheelessonline.com/ortho/pseudoachondroplasia] SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC EXACT [] DOID:0080048 trichorhinophalangeal syndrome I A [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/gene/TRPS1, url:http\://trpsa.org/trpsa_wp/] DOID:0080049 acromesomelic dysplasia An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. [url:http\://www.cigna.com/healthinfo/nord1087.html, url:http\://www.questdiagnostics.com/kbase/nord/nord1087.htm, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia, url:http\://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia] DOID:0080050 acromesomelic dysplasia, Maroteaux type An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. [pdf:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507, url:http\://www.ncbi.nlm.nih.gov/omim/602875] DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. [pdf:http\://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506, url:http\://www.ncbi.nlm.nih.gov/omim/201250] acromesomelic dwarfism EXACT [] DOID:0080052 acromesomelic dysplasia, Grebe type An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. [pdf:http\://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:http\://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098] GREBE CHONDRODYSPLASIA EXACT [] DOID:0080053 Albright's hereditary osteodystrophy An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. [pdf:http\://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf, url:http\://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770] pseudohypoparathyroidism type 1a EXACT [] DOID:0080054 achondrogenesis type IA An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. [url:http\://emedicine.medscape.com/article/941176-overview, url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1A, url:http\://www.healthline.com/galecontent/achondrogenesis] achondrogenesis Houston-Harris type EXACT [] DOID:0080055 achondrogenesis type IB An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1B, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1516/] achondrogenesis Fraccaro type EXACT [] DOID:0080056 achondrogenesis type II An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis] DOID:0080057 autosomal recessive spinocerebellar ataxia 15 DOID:0080058 autosomal recessive spinocerebellar ataxia 14 DOID:0080059 autosomal recessive spinocerebellar ataxia 7 DOID:0080060 autosomal recessive spinocerebellar ataxia 12 DOID:0080061 autosomal recessive spinocerebellar ataxia 2 DOID:0080062 autosomal recessive spinocerebellar ataxia 13 DOID:0080063 autosomal recessive spinocerebellar ataxia 11 DOID:0080064 autosomal recessive spinocerebellar ataxia 17 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080066 autosomal recessive spinocerebellar ataxia 20 DOID:0080067 Charcot-Marie-Tooth disease type 5 A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. [url:http\://www.ncbi.nlm.nih.gov/pubmed/12601114, url:https\://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications] hereditary motor and sensory neuropathy with pyramidal features EXACT [] DOID:0080068 Charcot-Marie-Tooth disease type 6 A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. [url:http\://www.ncbi.nlm.nih.gov/pubmed/26168012, url:https\://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications] hereditary motor and sensory neuropathy type 6 EXACT [] DOID:0080069 Charcot-Marie-Tooth disease type 7 A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa. [url:http\://www.ncbi.nlm.nih.gov/pubmed/25491489] DOID:0080070 inclusion-cell disease mucolipidosis II EXACT [] DOID:0080071 pseudo-Hurler polydystrophy mucolipidosis III EXACT [] DOID:0080072 neuronal intestinal dysplasia DOID:0080073 spina bifida occulta DOID:0080074 neural tube defect DOID:0080075 Neu-Laxova syndrome 2 DOID:0080076 Neu-Laxova syndrome 1 DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 DOID:0080079 nonsyndromic congenital nail disorder 1 twenty-nail dystrophy EXACT [] DOID:0080080 nonsyndromic congenital nail disorder 2 DOID:0080081 nonsyndromic congenital nail disorder 3 DOID:0080082 nonsyndromic congenital nail disorder 4 DOID:0080083 nonsyndromic congenital nail disorder 5 DOID:0080084 nonsyndromic congenital nail disorder 6 DOID:0080085 nonsyndromic congenital nail disorder 7 DOID:0080086 nonsyndromic congenital nail disorder 8 DOID:0080087 nonsyndromic congenital nail disorder 9 DOID:0080088 nonsyndromic congenital nail disorder 10 DOID:0080089 tubular aggregate myopathy DOID:0080090 reducing body myopathy DOID:0080091 spheroid body myopathy DOID:0080092 myofibrillar myopathy 1 desminopathy EXACT [] DOID:0080093 myofibrillar myopathy 2 alpha-b crystallinopathy EXACT [] DOID:0080094 myofibrillar myopathy 3 myotilinopathy EXACT [] DOID:0080095 myofibrillar myopathy 4 zaspopathy EXACT [] DOID:0080096 myofibrillar myopathy 5 filaminopathy EXACT [] DOID:0080097 myofibrillar myopathy 6 BAG3-related myofibrillar myopathy RELATED [] DOID:0080098 myofibrillar myopathy 7 alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy EXACT [] DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia DOID:0080100 congenital myopathy DOID:0080101 Compton-North congenital myopathy DOID:0080102 congenital fiber-type disproportion DOID:0080103 cylindrical spirals myopathy DOID:0080105 microcephaly and chorioretinopathy 1 A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. [] DOID:0080106 microcephaly and chorioretinopathy 2 A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. [] DOID:0080107 microcephaly and chorioretinopathy 3 A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. [] DOID:0080108 myoglobinuria DOID:0080109 infantile myofibromatosis A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. [] DOID:0080110 multiple pterygium syndrome A genetic disease that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. [] DOID:100 intestinal infectious disease An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites. [url:http\://en.wikipedia.org/wiki/Intestine] bacterial enteritis EXACT [] DOID:10000 visual cortex disorder due to neoplasm DOID:10003 sensorineural hearing loss Sensory hearing loss EXACT [ICD9CM_2006:389.11] DOID:10007 respiratory syncytial virus bronchiolitis A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. [url:http\://en.wikipedia.org/wiki/Bronchiolitis, url:http\://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf] viral bronchiolitis EXACT [] DOID:1001 labor complications Labour complications EXACT [SNOMEDCT_2005_07_31:267342003] DOID:10011 thyroid lymphoma DOID:10012 metastatic malignant neoplasm to the thyroid secondary malignant neoplasm of thyroid gland EXACT [SNOMEDCT_2005_07_31:94634005] DOID:10013 polyglandular activity in multiple endocrine adenomatosis DOID:10015 polyglandular dysfunction DOID:10016 multiple endocrine neoplasia type 2B An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract] Wagenmann-Froboese syndrome EXACT [] DOID:10017 multiple endocrine neoplasia type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.ncbi.nlm.nih.gov/pubmed/25509899, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000398.htm] Wermer's syndrome EXACT [MTHICD9_2006:258.0] DOID:10018 papilledema associated with increased intracranial pressure DOID:1002 endometritis DOID:10020 ampulla of Vater cancer malignant tumour of ampulla of vater EXACT [SNOMEDCT_2005_07_31:93668007] DOID:10021 duodenum cancer A small intestine cancer that is located_in the beginning section of the small intestine. [url:http\://en.wikipedia.org/wiki/Duodenal_cancer] duodenal neoplasm EXACT [] DOID:10022 ampulla of vater neoplasm tumor of the ampulla of vater EXACT [NCI2004_11_17:C4443] DOID:10024 migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404] classic migraine EXACT [] DOID:10027 tabes dorsalis A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm] Tabes dorsalis - neurosyphilis EXACT [SNOMEDCT_2005_07_31:186885003] DOID:1003 pelvic inflammatory disease PID EXACT [MTHICD9_2006:614.9] DOID:10030 interstitial emphysema DOID:10031 compensatory emphysema DOID:10032 hyperlucent lung DOID:10033 cycloplegia Paresis of accommodation EXACT [ICD9CM_2006:367.51] DOID:10034 eye accommodation disease DOID:10035 asymptomatic neurosyphilis A tertiary neurosyphilis that results_in mild meningitis. [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] DOID:10038 old burn scar-related melanoma of skin DOID:10039 late congenital syphilis A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. [url:http\://en.wikipedia.org/wiki/Late_congenital_syphilis, url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] juvenile neurosyphilis EXACT [] DOID:10040 malignant eyelid melanoma DOID:10041 dysplastic nevus syndrome FAMM syndrome EXACT [NCI2004_11_17:C27264] DOID:10042 regressing skin melanoma regressing malignant melanoma of the skin EXACT [NCI2004_11_17:C7089] DOID:10044 balloon cell malignant melanoma DOID:10045 malignant giant pigmented nevus melanoma skin melanoma in Giant Pigmented nevus EXACT [NCI2004_11_17:C4235] DOID:10047 nodular malignant melanoma A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. [url:http\://en.wikipedia.org/wiki/Nodular_melanoma, url:http\://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/] nodular melanoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:2142002] DOID:10048 malignant junctional nevus melanoma melanoma in Junctional nevus EXACT [NCI2004_11_17:C4232] DOID:10049 desmoplastic melanoma A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. [url:http\://www.cancer.gov/dictionary/?CdrID=321367] DOID:1005 endometrial disease DOID:10053 malignant skin blue nevus Blue nevus-Like melanoma EXACT [NCI2004_11_17:C4240] DOID:10054 skin amelanotic melanoma skin amelanotic malignant melanoma EXACT [] DOID:10059 Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium DOID:10066 syphilitic acoustic neuritis A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. [url:http\://archotol.ama-assn.org/cgi/content/summary/40/4/261] DOID:10069 subglottis neoplasm Subglottic tumor EXACT [NCI2004_11_17:C4426] DOID:10070 larynx leiomyoma DOID:10071 larynx squamous papilloma DOID:10073 syphilitic meningitis DOID:10074 hymenolepiasis A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. [url:http\://en.wikipedia.org/wiki/Hymenolepiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001378.htm] Hymenolepis infectious disease EXACT [MTHICD9_2006:123.6] DOID:10075 diphyllobothriasis A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. [url:http\://en.wikipedia.org/wiki/Diphyllobothrium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm] fish tapeworm EXACT [] DOID:10079 cysticercosis A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. [url:http\://en.wikipedia.org/wiki/Cysticercosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Cysticercosis.htm] tenia solium infectious disease EXACT [] DOID:10080 sparganosis A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. [url:http\://en.wikipedia.org/wiki/Sparganosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm] Sparganosis [larval diphyllobothriasis] EXACT [ICD9CM_2006:123.5] DOID:10081 syphilitic encephalitis Syphilis encephalitis EXACT [SNOMEDCT_2005_07_31:192699001] DOID:10087 gastric leiomyoma leiomyoma of the stomach EXACT [NCI2004_11_17:C3876] DOID:10095 intracranial abscess DOID:10111 Congenital or acquired abnormality of vagina, with delivery DOID:10112 sleeping sickness A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. [url:http\://en.wikipedia.org/wiki/African_trypanosomiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001362.htm, url:http\://www.who.int/mediacentre/factsheets/fs259/en/] African trypanosomiasis EXACT [MTH:NOCODE] DOID:10113 trypanosomiasis A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. [url:http\://en.wikipedia.org/wiki/Trypanosomiasis] DOID:10114 Trypanosoma brucei rhodesiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm] trypanosoma rhodesiense infectious disease EXACT [] DOID:10116 Trypanosoma brucei gambiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm] West African trypanosomiasis EXACT [] DOID:10120 eyelid degenerative disease DOID:10121 degenerative disorder of eyelid and periocular area DOID:10122 hyperpigmentation of eyelid dyspigmentation of eyelid EXACT [] DOID:10123 pigmentation disease DOID:10124 corneal disease DOID:10125 acute hydrops keratoconus Keratoconus, acute hydrops EXACT [ICD9CM_2006:371.62] DOID:10126 keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. [url:http\://en.wikipedia.org/wiki/Keratoconus, url:http\://ghr.nlm.nih.gov/glossary=keratoconus] conical cornea EXACT [] DOID:10127 cerebral artery occlusion DOID:10128 venous insufficiency A vein disease that is characterized by impaired flow of blood through the veins. [url:http\://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000203.htm] peripheral venous insufficiency EXACT [SNOMEDCT_2005_07_31:20696009] DOID:10131 psychologic vaginismus Psychogenic Vaginismus EXACT [NCI2004_11_17:C35113] DOID:10132 psychosexual disorder DOID:10138 xerophthalmia Conjunctival xerosis EXACT [ICD9CM_2006:372.53] DOID:10139 conjunctival degeneration DOID:10140 dry eye syndrome Tear film insufficiency EXACT [SNOMEDCT_2005_07_31:193980001] DOID:10141 asthenopia Accommodative strain EXACT [SNOMEDCT_2005_07_31:193645002] DOID:10142 Chlamydia trachomatis peritonitis venereal disease of peritoneum due to Chlamydia trachomatis EXACT [] DOID:10144 secondary malignant neoplasm to the thymus metastatic tumor to the Thymus EXACT [NCI2004_11_17:C4903] DOID:10145 metastases to mediastinum secondary malignant neoplasm of mediastinum EXACT [ICD9CM_2006:197.1] DOID:10146 thymus lymphoma DOID:10149 long bones of lower limb cancer A bone cancer that is manifested in the long bones of the lower limb. [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm] malignant neoplasm of long bones of leg EXACT [SNOMEDCT_2005_07_31:187959005] DOID:10150 lower limb cancer A malignant neoplasm that is manifested in the lower limb. [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm] malignant neoplasm of lower limb EXACT [ICD9CM_2006:195.5] DOID:10151 malignant neoplasm of short bones of lower limb malignant neoplasm of short bones of leg EXACT [SNOMEDCT_2005_07_31:187964009] DOID:10152 Meckel's diverticulum cancer Meckel diverticulum cancer EXACT [] DOID:10153 ileum cancer A small intestine cancer that is located_in the ileum. [url:http\://en.wikipedia.org/wiki/Ileum] malignant neoplasm of ileum EXACT [ICD9CM_2006:152.2] DOID:10154 small intestine cancer An intestinal cancer that is located_in the small intestine. [url:http\://en.wikipedia.org/wiki/Small_intestine] DOID:10155 intestinal cancer A gastrointestinal system cancer that is located_in the intestine. [url:http\://en.wikipedia.org/wiki/Intestine] malignant neoplasm of intestine EXACT [SNOMEDCT_2005_07_31:93838000] DOID:10156 ileal neoplasm tumor of ileum (disorder) EXACT [SNOMEDCT_2005_07_31:254576003] DOID:10159 osteonecrosis An ischemic bone disease that results_in necrosis located_in bone. [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm] bone necrosis EXACT [CSP2005:2715-1650] DOID:1016 primary tuberculosis DOID:10173 tuberculous myelitis Tuberculous abscess of spinal cord EXACT [ICD9CM_2006:013.5] DOID:10174 lacrimal passage granuloma Granuloma of lacrimal passages EXACT [ICD9CM_2006:375.81] DOID:10175 optic papillitis papillitis EXACT [CSP2005:2042-6609] DOID:10176 neuroretinitis Papilloretinitis EXACT [SNOMEDCT_2005_07_31:410471004] DOID:10177 malignant hypertensive renal disease DOID:10182 diabetic peripheral angiopathy DOID:10183 endobronchial lipoma DOID:10184 spindle cell lipoma A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. [url:http\://en.wikipedia.org/wiki/Lipoma] spindle cell lipoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:27313007] DOID:10187 esophageal lipoma Lipoma of esophagus EXACT [NCI2004_11_17:C5701] DOID:10188 skin lipoma Lipomatous tumor of skin EXACT [NCI2004_11_17:C5566] DOID:1019 osteomyelitis A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. [url:http\://en.wikipedia.org/wiki/Osteomyelitis, url:http\://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx, url:http\://www.mayoclinic.com/health/osteomyelitis/DS00759, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000437.htm] DOID:10190 liver lipoma Lipoma of the Liver EXACT [NCI2004_11_17:C5750] DOID:10191 autosomal deletion syndrome DOID:10192 pleomorphic lipoma A lipoma that is characterized by floret giant cells with overlapping nuclei. [url:http\://en.wikipedia.org/wiki/Pleomorphic_lipoma] Pleomorphic lipoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:21396005] DOID:10193 classic type lipoma DOID:10194 kidney lipoma Lipoma of kidney EXACT [NCI2004_11_17:C5101] DOID:10195 pleural lipoma Lipoma of Pleura EXACT [NCI2004_11_17:C6644] DOID:10199 breast lipoma Lipoma of breast (disorder) EXACT [SNOMEDCT_2005_07_31:276891009] DOID:10200 chest wall lipoma Lipoma of the Chest Wall EXACT [NCI2004_11_17:C6719] DOID:10201 gallbladder lipoma Lipoma of the gallbladder EXACT [NCI2004_11_17:C5835] DOID:10202 lipoma of intrathoracic organ Lipoma of intrathoracic organs (disorder) EXACT [SNOMEDCT_2005_07_31:93158001] DOID:10203 external auditory meatus lipoma Lipoma of the External ear EXACT [NCI2004_11_17:C4618] DOID:10204 lipoma of intra-abdominal organ Lipoma of intra-abdominal organs (disorder) EXACT [SNOMEDCT_2005_07_31:93157006] DOID:10205 axillary lipoma An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. [url:http\://en.wikipedia.org/wiki/Axilla, url:http\://en.wikipedia.org/wiki/Lipoma] Lipoma of axilla (disorder) EXACT [SNOMEDCT_2005_07_31:188993006] DOID:10206 lipoma of spermatic cord Spermatic Cord Lipoma EXACT [NCI2004_11_17:C3606] DOID:10207 paratesticular lipoma DOID:10208 chondroid lipoma A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. [url:http\://en.wikipedia.org/wiki/Lipoma] Chondroid lipoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128746001] DOID:10209 extrahepatic bile duct lipoma Lipoma of the extrahepatic bile duct EXACT [NCI2004_11_17:C5854] DOID:10210 calculus of gallbladder and bile duct without cholecystitis calculus of gallbladder and bile duct without cholecystitis, with obstruction EXACT [] DOID:10211 cholelithiasis DOID:1022 pinta disease A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. [url:http\://emedicine.medscape.com/article/225576-overview#a0104] DOID:10220 failed induction Failed mechanical induction of labor, antepartum EXACT [] DOID:10222 polymyositis DOID:10223 dermatomyositis A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. [url:http\://en.wikipedia.org/wiki/Dermatomyositis, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis] Polymyositis with skin involvement EXACT [MTHICD9_2006:710.3] DOID:10226 single episode manic disorder DOID:10229 partial epilepsy, with impairment of consciousness, with intractable epilepsy DOID:1023 borderline leprosy A leprosy that results in small numerous red irregularly shaped plaques. [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Borderline_leprosy] Midborderline leprosy (disorder) EXACT [SNOMEDCT_2005_07_31:400154003] DOID:10230 aortic atherosclerosis Atherosclerosis of aorta (disorder) EXACT [SNOMEDCT_2005_07_31:81817003] DOID:10233 Histoplasma capsulatum pericarditis An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16924162] Histoplasma capsulatum with pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:187040006] DOID:10234 histoplasmosis pericarditis Histoplasmosis with pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:187059008] DOID:10235 Brown's tendon sheath syndrome Brown's sheath syndrome EXACT [MTHICD9_2006:378.61] DOID:10236 exhibitionism DOID:10237 pelvic cancer A malignant neoplasm that is manifested in the pelvic region. [url:http\://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm] pelvis neoplasm EXACT [CSP2005:2005-4862] DOID:10238 malignant neoplasm of rectum, rectosigmoid junction and anus malignant neoplasm of rectum, rectosigmoid junction, and anus EXACT [ICD9CM_2006:154] DOID:10239 malignant neoplasm of pelvic bones, sacrum and coccyx malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder) EXACT [SNOMEDCT_2005_07_31:187958002] DOID:1024 leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Leprosy] DOID:10240 malignant neoplasm of pelvis malignant tumor of pelvis (disorder) EXACT [SNOMEDCT_2005_07_31:363484005] DOID:10241 thalassemia thalassemia Hb-S disease without crisis EXACT [] DOID:10242 ehrlichiosis A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. [url:http\://emedicine.medscape.com/article/235839-overview, url:http\://en.wikipedia.org/wiki/Ehrlichiosis] human ehrlichiosis EXACT [] DOID:10245 delayed separation of umbilical cord DOID:10247 pleurisy A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. [url:http\://en.wikipedia.org/wiki/Pleurisy, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2] DOID:1025 tuberculoid leprosy A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Tuberculoid_leprosy] type T leprosy EXACT [MTHICD9_2006:030.1] DOID:10250 louping ill A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. [url:http\://www.defra.gov.uk/foodfarm/farmanimal/diseases/vetsurveillance/profiles/documents/sp-loupingill.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/15606630] Louping ill EXACT [ICD9CM_2006:063.1] DOID:10254 strawberry gallbladder Cholesterolosis of gallbladder (disorder) EXACT [SNOMEDCT_2005_07_31:61565001] DOID:10255 conjunctival degenerations and deposits Conjunctival degenerations and deposits (disorder) EXACT [SNOMEDCT_2005_07_31:193885005] DOID:10256 vitamin A deficiency with conjunctival xerosis vitamin A deficiency with conjunctival xerosis (disorder) EXACT [SNOMEDCT_2005_07_31:27796003] DOID:10257 vitamin A deficiency DOID:10261 discharging ear DOID:10263 Mumps virus hepatitis A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. [url:url\:http\://www.ncbi.nlm.nih.gov/pubmed/13361586] Mumps hepatitis (disorder) EXACT [SNOMEDCT_2005_07_31:89231008] DOID:10264 mumps A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. [url:http\://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf] DOID:10265 hairy cell leukemia of spleen Leukemic reticuloendotheliosis of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:188651007] DOID:10266 subendocardial infarction acute myocardial infarction DOID:10272 left bundle branch hemiblock Left bundle branch hemiblock NOS (disorder) EXACT [SNOMEDCT_2005_07_31:195045000] DOID:10273 heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system. [url:http\://en.wikipedia.org/wiki/Conduction_system_of_the_heart] heart rhythm disease EXACT [] DOID:10274 schizo-affective type schizophrenia in remission DOID:10277 Pseudomonas intestinal infectious disease A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. [url:http\://emedicine.medscape.com/article/970904-overview] intestinal infectious disease due to pseudomonas EXACT [] DOID:10278 Vasa previa complicating labor and delivery Vasa previa complicating labor and delivery, unspecified as to episode of care EXACT [ICD9CM_2006:663.50] DOID:10279 Vasa previa Vasa previa unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:199894008] DOID:10280 Vasa previa complicating labor and delivery, delivered DOID:10283 prostate cancer A male reproductive organ cancer that is located_in the prostate. [url:http\://www.cancer.gov/dictionary?CdrID=445079] tumor of the prostate EXACT [NCI2004_11_17:C3343] DOID:10286 prostate carcinoma A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of prostate (disorder) EXACT [SNOMEDCT_2005_07_31:254900004] DOID:10287 prostate squamous cell carcinoma squamous cell carcinoma of the prostate EXACT [NCI2004_11_17:C5536] DOID:10288 metastasis to prostate secondary malignant neoplasm of prostate (disorder) EXACT [SNOMEDCT_2005_07_31:94503003] DOID:10289 prostate malignant phyllodes tumor malignant Phyllodes neoplasm of the prostate EXACT [NCI2004_11_17:C5531] DOID:1029 familial periodic paralysis DOID:10290 prostate lymphoma Lymphoma of the prostate EXACT [NCI2004_11_17:C5533] DOID:10293 monocular esotropia DOID:10294 intermittent monocular esotropia Monocular intermittent esotropia (disorder) EXACT [SNOMEDCT_2005_07_31:31447006] DOID:10295 monocular esotropia with A pattern Monocular esotropia with A pattern (disorder) EXACT [SNOMEDCT_2005_07_31:58409000] DOID:10296 monocular esotropia with V pattern Monocular esotropia with V pattern (disorder) EXACT [SNOMEDCT_2005_07_31:65215002] DOID:10300 Raynaud disease Raynaud's syndrome NOS (disorder) EXACT [SNOMEDCT_2005_07_31:195297003] DOID:10301 parotitis A parotid disease characterized by the inflammation of one or both parotid glands. [url:http\://en.wikipedia.org/wiki/Parotitis] DOID:10302 parotid disease DOID:10303 sialadenitis Sialoadenitis EXACT [SNOMEDCT_2005_07_31:266494007] DOID:10304 Mumps virus infectious disease A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. [url:http\://www.expasy.org/viralzone/all_by_species/88.html] Rubulavirus infectious disease EXACT [] DOID:10305 Mumps virus orchitis A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001280.htm] Mumps orchitis (disorder) EXACT [SNOMEDCT_2005_07_31:78580004] DOID:10307 Mumps virus polyneuritis A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. [url:http\://www.merckmanuals.com/home/sec06/ch095/ch095h.html, url:http\://www.merckmanuals.com/professional/sec14/ch193/ch193d.html] Polyneuropathy in mumps (disorder) EXACT [SNOMEDCT_2005_07_31:193192002] DOID:10309 Mumps virus meningitis A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. [url:http\://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784] Mumps meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:44201003] DOID:10310 viral meningitis DOID:10311 Mumps virus encephalitis A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5046780] Mumps encephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:31646008] DOID:10312 Mumps virus pancreatitis A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. [url:http\://emedicine.medscape.com/article/966678-overview] Mumps pancreatitis (disorder) EXACT [SNOMEDCT_2005_07_31:10665004] DOID:10314 endocarditis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. [url:http\://wn.wikipedia.org/wiki/Endocarditis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/endo/] DOID:10316 pneumoconiosis An interstitial lung disease that is caused by the inhalation of dust. [url:http\://en.wikipedia.org/wiki/Pneumoconiosis] DOID:10319 mixed mineral dust pneumoconiosis DOID:10320 asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers. [url:http\://en.wikipedia.org/wiki/Asbestosis] DOID:10321 baritosis DOID:10322 berylliosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. [sn:IEDB, url:http\://en.wikipedia.org/wiki/Berylliosis] beryllium poisoning EXACT [CSP2005:1858-2321] DOID:10323 byssinosis Stripper's asthma EXACT [SNOMEDCT_2005_07_31:13151001] DOID:10324 anthracosilicosis DOID:10325 silicosis A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Silicosis] silicotuberculosis EXACT [] DOID:10326 Caplan's syndrome A pneumoconiosis that results_in humans that also have rheumatoid arthritis. [url:http\://en.wikipedia.org/wiki/Caplan%27s_syndrome, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000137.htm] Rheumatoid pneumoconiosis EXACT [SNOMEDCT_2005_07_31:111280008] DOID:10327 anthracosis Melanoedema EXACT [SNOMEDCT_2005_07_31:29422001] DOID:10328 siderosis pulmonary siderosis EXACT [SNOMEDCT_2005_07_31:62371005] DOID:10329 pneumoconiosis due to talc Talc Pneumoconiosis EXACT [NCI2004_11_17:C27026] DOID:10330 slate pneumoconiosis Schistosis EXACT [SNOMEDCT_2005_07_31:1259003] DOID:10331 kaolin pneumoconiosis Kaolinosis EXACT [SNOMEDCT_2005_07_31:36696005] DOID:10332 disorder of optic chiasm due to vascular disorder disorder of optic chiasm associated with vascular disorder EXACT [ICD9CM_2006:377.53] DOID:10334 craniofacial abnormality Skull or face bone anomaly NOS (disorder) EXACT [SNOMEDCT_2005_07_31:268269002] DOID:10337 glaucomatous atrophy of optic disc Glaucomatous atrophy [cupping] of optic disc EXACT [ICD9CM_2006:377.14] DOID:10338 subchronic schizophrenia Unspecified schizophrenia, subchronic state EXACT [ICD9CM_2006:295.91] DOID:10339 schizophrenia simplex simple type schizophrenia, unspecified state EXACT [ICD9CM_2006:295.00] DOID:10340 residual subchronic schizophrenia subchronic residual schizophrenia (disorder) EXACT [SNOMEDCT_2005_07_31:76566000] DOID:10341 chronic meningitis chronic meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:21664006] DOID:10342 subchronic latent schizophrenia subchronic latent schizophrenia (disorder) EXACT [SNOMEDCT_2005_07_31:191561004] DOID:10343 latent schizophrenia Unspecified latent schizophrenia (disorder) EXACT [SNOMEDCT_2005_07_31:191560003] DOID:10348 blepharophimosis DOID:10349 solitary cyst of breast Solitary Cyst of the breast EXACT [NCI2004_11_17:C3378] DOID:1035 natural killer cell leukemia large granular Lymphocyte Leukemia, NK-cell type EXACT [NCI2004_11_17:C8647] DOID:10350 breast cyst Cyst of the breast EXACT [NCI2004_11_17:C5315] DOID:10351 mammary duct ectasia Mammary duct ectasia [Ambiguous] EXACT [SNOMEDCT_2005_07_31:198093007] DOID:10352 breast fibroadenosis Fibroadenosis of breast NOS (disorder) EXACT [SNOMEDCT_2005_07_31:198092002] DOID:10353 fibrosclerosis of breast Fibrosis of the breast EXACT [NCI2004_11_17:C3660] DOID:10354 breast fibrocystic disease Fibrocystic disease of breast (disorder) EXACT [SNOMEDCT_2005_07_31:27431007] DOID:1036 chronic leukemia A leukemia that develops slowly. [url:http\://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html] CML RELATED [] DOID:10361 eosinophilic meningitis Eosinophilic meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:25671008] DOID:10366 epididymis cancer malignant tumor of epididymis (disorder) EXACT [SNOMEDCT_2005_07_31:363452003] DOID:10367 metastatic tumor to the epididymis secondary malignant neoplasm of epididymis (disorder) EXACT [SNOMEDCT_2005_07_31:94283001] DOID:10368 epididymis adenocarcinoma An epididymis cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the epididymis RELATED [] DOID:1037 lymphoblastic leukemia A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). [url:http\://www.cancer.gov/dictionary?CdrID=616067] DOID:10371 yaws A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. [url:http\://en.wikipedia.org/wiki/Yaws, url:http\://www.who.int/mediacentre/factsheets/fs316/en/] thymosis EXACT [] DOID:10375 suppression amblyopia Strabismic amblyopia EXACT [ICD9CM_2006:368.01] DOID:10376 amblyopia DOID:10377 ametropic amblyopia Refractive amblyopia EXACT [ICD9CM_2006:368.03] DOID:10378 disuse amblyopia Deprivation amblyopia EXACT [ICD9CM_2006:368.02] DOID:1038 mature T-cell neoplasm DOID:10380 precipitate labor Precipitate labor, with delivery EXACT [] DOID:10381 staphylococcal meningitis Staphylococcal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:12166008] DOID:10383 amyotrophic neuralgia neuralgic amyotrophy (disorder) EXACT [SNOMEDCT_2005_07_31:26609002] DOID:10384 papilledema associated with decreased ocular pressure Papilledema associated with decreased ocular pressure (disorder) EXACT [SNOMEDCT_2005_07_31:79155000] DOID:1039 prolymphocytic leukemia DOID:10393 secondary hypertrophic osteoarthropathy Marie Bamberger disease EXACT [CSP2005:2715-1220] DOID:10398 pneumonic plague A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. [url:http\://emedicine.medscape.com/article/829233-overview#a0104, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area] secondary pneumonic plague EXACT [] DOID:10399 seminal vesicle chronic gonorrhea Gonococcal seminal vesiculitis, chronic EXACT [ICD9CM_2006:098.34] DOID:104 bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. [url:http\://en.wikipedia.org/wiki/Pathogenic_bacteria] DOID:1040 chronic lymphocytic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. [url:http\://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=346545] lymphoplasmacytic leukemia EXACT [] DOID:10400 gonococcal seminal vesiculitis Gonorrhea of seminal vesicle EXACT [MTHICD9_2006:098.14] DOID:1042 Generalized infection during labor Generalized infection during labor, delivered EXACT [] DOID:10423 acute pericementitis acute periodontitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196364007] DOID:10426 Klippel-Feil syndrome A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. [url:http\://emedicine.medscape.com/article/1264848-overview, url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, url:http\://www.healthline.com/galecontent/klippel-feil-syndrome, url:http\://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, url:http\://www.wheelessonline.com/ortho/klippel_feil_syndrome] Klippel-Feil deformity, deafness and facial asymmetry EXACT [] DOID:10428 stable condition keratoconus Keratoconus, stable condition EXACT [SNOMEDCT_2005_07_31:193844000] DOID:10435 purulent acute otitis media A suppurative otitis media with sudden onset and a short course. [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false] DOID:10437 metastasis to lymph node DOID:10439 Mooren's ulcer Mooren ulcer EXACT [] DOID:1044 nontraumatic rupture of muscle Rupture of muscle, nontraumatic EXACT [ICD9CM_2006:728.83] DOID:10440 mycotic corneal ulcer DOID:10441 marginal corneal ulcer DOID:10442 hypopyon ulcer DOID:10443 hypopyon DOID:10444 ring corneal ulcer DOID:10445 perforated corneal ulcer DOID:10447 thyroid dysfunction complicating pregnancy, childbirth, or the puerperium Thyroid dysfunction of mother, with delivery EXACT [] DOID:1045 fascia disease DOID:10456 tonsillitis An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. [url:http\://en.wikipedia.org/wiki/Tonsillitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis] Throat infection - tonsillitis EXACT [SNOMEDCT_2005_07_31:195665006] DOID:10457 Legionnaires' disease A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. [url:http\://en.wikipedia.org/wiki/Legionellosis] Legionella pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:195889001] DOID:10458 legionellosis A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. [url:http\://en.wikipedia.org/wiki/Legionellosis, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm] Legionella infection (disorder) EXACT [SNOMEDCT_2005_07_31:26726000] DOID:10459 common cold An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold] rhino-sinusitis EXACT [] DOID:10460 nasopharyngitis A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. [url:http\://medical-dictionary.thefreedictionary.com/nasopharyngitis, url:http\://www.merriam-webster.com/medical/nasopharyngitis] chronic nasopharyngitis EXACT [] DOID:10461 dentin caries Dentin caries, NOS EXACT [SNOMEDCT_2005_07_31:44828002] DOID:10469 diabetes mellitus juvenile type, uncontrolled, with neurological manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations EXACT [ICD9CM_2006:250.63] DOID:1047 Mental disorder complicating pregnancy, childbirth, or the puerperium postpartum mental disorder of mother EXACT [] DOID:10471 patellar tendinitis Patellar tendonitis (disorder) EXACT [SNOMEDCT_2005_07_31:37785001] DOID:10472 candidal pneumonia A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] Candidiasis of lung EXACT [ICD9CM_2006:112.4] DOID:10473 wrist or carpus enthesopathy Wrist or carpus enthesopathy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:202860005] DOID:10480 diaphragmatic eventration DOID:10481 diaphragm disease A muscular disease that is located_in the diaphragm. [url:http\://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm] DOID:10483 hypertonic, incoordinate, or prolonged uterine contractions DOID:10485 esophageal atresia Oesophageal atresia EXACT [SNOMEDCT_2005_07_31:156947007] DOID:10486 intestinal atresia DOID:10487 Hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/, url:http\://en.wikipedia.org/wiki/Hirschsprung%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001140.htm, url:http\://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease] total intestinal aganglionosis EXACT [] DOID:10488 imperforate anus Imperforate anus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:204733009] DOID:10489 transient disorder of initiating or maintaining wakefulness DOID:10493 adrenal cortical hypofunction Corticoadrenal insufficiency NOS (disorder) EXACT [SNOMEDCT_2005_07_31:267398003] DOID:10494 pulmonary valve syphilitic endocarditis Syphilitic endocarditis of pulmonary valve (disorder) EXACT [SNOMEDCT_2005_07_31:186878002] DOID:10499 orbital granuloma DOID:10501 menopausal and postmenopausal disorder DOID:10505 generalized nonconvulsive epilepsy disease generalized nonconvulsive epilepsy with intractable epilepsy EXACT [] DOID:10507 Dressler's syndrome A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. [url:http\://en.wikipedia.org/wiki/Dressler%27s_syndrome, url:http\://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307] Postmyocardial infarction syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:66189004] DOID:10508 Bacillus anthracis pneumonia A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. [url:http\://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/8460135] Woolsorters' pneumonia EXACT [SNOMEDCT_2005_07_31:11389007] DOID:10510 influenza virus pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. [url:http\://chestjournal.chestpubs.org/content/119/6/1717.full.pdf+html, url:http\://en.wikipedia.org/wiki/Pneumonia] influenzal pneumonia EXACT [] DOID:10516 malignant otitis externa A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. [url:http\://www.merck.com/mmhe/sec19/ch219/ch219c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000672.htm] DOID:10518 beach ear A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. [url:http\://en.wikipedia.org/wiki/Otitis_externa, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000622.htm] Tank ear EXACT [MTHICD9_2006:380.12] DOID:10519 chronic fungal otitis externa A otomycosis which is persistent and long-lasting or recurrent. [url:http\://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf] chronic mycotic otitis externa NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194209004] DOID:10520 acute infection of pinna A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. [url:http\://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false] acute infection of pinna (disorder) EXACT [SNOMEDCT_2005_07_31:56663002] DOID:10521 pinna disease Unspecified disorder of pinna (disorder) EXACT [SNOMEDCT_2005_07_31:194226005] DOID:10525 double pterygium DOID:10526 conjunctival pterygium Web eye EXACT [SNOMEDCT_2005_07_31:77489003] DOID:10527 Haemophilus influenzae pneumonia A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. [url:http\://books.google.com/books?id=Bv68Qo6apvQC&pg=PA633&lpg#v=onepage&q=&f=false, url:http\://pedbase.org/p/pneumonia_haemophilus-influenzae-pneumonia/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf] Pneumonia due to Hemophilus influenzae [H. influenzae] EXACT [ICD9CM_2006:482.2] DOID:10528 Haemophilus influenzae infectious disease Hemophilus Influenza Infection EXACT [NCI2004_11_17:C34655] DOID:10529 primary Haemophilus infectious disease Hemophilus Infection EXACT [NCI2004_11_17:C34654] DOID:1053 developmental dislocation of joint Developmental dislocation of upper arm joint EXACT [] DOID:10531 pneumococcal pneumonia A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. [url:http\://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm] Streptococcus pneumoniae pneumonia EXACT [MTHICD9_2006:481] DOID:10532 streptococcal pneumonia A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. [url:http\://en.wikipedia.org/wiki/Streptococcus] DOID:10533 viral pneumonia A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. [url:http\://en.wikipedia.org/wiki/Pneumonia] DOID:10534 stomach cancer A gastrointestinal system cancer that is located_in the stomach. [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Stomach] malignant tumor of lesser curve of stomach (disorder) EXACT [SNOMEDCT_2005_07_31:269459004] DOID:10535 coxsackie myocarditis A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] DOID:10536 malignant gastric granular cell tumor malignant granular cell tumor of stomach EXACT [NCI2004_11_17:C5484] DOID:10537 recurrent malignant gastric neoplasm DOID:10538 gastric fundus cancer malignant tumor of fundus of stomach (disorder) EXACT [SNOMEDCT_2005_07_31:187741001] DOID:1054 glaucoma associated with chamber angle anomalies Glaucoma associated with chamber angle anomalies (disorder) EXACT [SNOMEDCT_2005_07_31:19039006] DOID:10540 gastric lymphoma Lymphoma of the stomach EXACT [NCI2004_11_17:C4636] DOID:10541 microinvasive gastric cancer Surface gastric cancer EXACT [NCI2004_11_17:C27131] DOID:10544 pylorus cancer malignant tumor of pylorus (disorder) EXACT [SNOMEDCT_2005_07_31:187736009] DOID:10545 coxsackievirus infectious disease An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. [url:http\://en.wikipedia.org/wiki/Coxsackievirus] DOID:10547 pyloric antrum cancer malignant tumor of pyloric antrum (disorder) EXACT [SNOMEDCT_2005_07_31:187740000] DOID:10548 cardia cancer malignant neoplasm of cardia of stomach EXACT [SNOMEDCT_2005_07_31:93738008] DOID:10549 diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations EXACT [ICD9CM_2006:250.51] DOID:1055 glaucoma associated with congenital anomalies, dystrophies and systemic syndromes Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes EXACT [ICD9CM_2006:365.4] DOID:10550 acute eustachian salpingitis A otosalpingitis with a sudden onset and a short course. [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] acute eustachian tube salpingitis EXACT [SNOMEDCT_2005_07_31:194268005] DOID:10551 cerebral toxoplasmosis A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] Toxoplasma encephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:192701001] DOID:10554 meningoencephalitis A central nervous system disease that involves encephalitis which occurs along with meningitis. [url:http\://en.wikipedia.org/wiki/Encephalitis] Meningoencephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:7125002] DOID:10556 supine hypotensive syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22537582, url:http\://www.ncbi.nlm.nih.gov/pubmed/8164943] postpartum maternal hypotension syndrome EXACT [] DOID:10557 maternal distress DOID:1056 oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe EXACT [CSP2005:1849-1861] DOID:10561 yaws hyperkeratosis hyperkeratosis of yaws (disorder) EXACT [SNOMEDCT_2005_07_31:53734002] DOID:10564 gangosa of yaws A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. [url:http\://en.wikipedia.org/wiki/Yaws] Rhinopharyngitis mutilans EXACT [MTHICD9_2006:102.5] DOID:10567 late yaws A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. [url:http\://www.who.int/mediacentre/factsheets/fs316/en/] Yaws gummata and ulcers (disorder) EXACT [SNOMEDCT_2005_07_31:186968004] DOID:10568 early yaws A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. [url:http\://www.who.int/mediacentre/factsheets/fs316/en/] primary frambesia EXACT [SNOMEDCT_2005_07_31:77912009] DOID:10569 myopathy of critical illness Critical illness myopathy EXACT [ICD9CM_2006:359.81] DOID:1057 inborn amino acid transport disorder DOID:10573 osteomalacia A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. [url:http\://en.wikipedia.org/wiki/Osteomalacia, url:http\://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx, url:http\://www.mayoclinic.com/health/osteomalacia/DS00935, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000376.htm, url:http\://www.umm.edu/ency/article/000376.htm, url:http\://www.wheelessonline.com/ortho/osteomalacia] DOID:10574 vitamin D deficiency vitamin D deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:34713006] DOID:10575 calcium metabolism disease DOID:10579 leukodystrophy A cerebral degeneration characterized by dysfunction of the white matter of the brain. [url:http\://en.wikipedia.org/wiki/Leukodystrophy] DOID:1058 amino acid transport disease Disturbances of amino-acid transport EXACT [ICD9CM_2006:270.0] DOID:10581 metachromatic leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. [url:http\://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, url:http\://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy] sulfatide lipoidosis EXACT [CSP2005:1849-5593] DOID:10582 Refsum disease Refsum's disease EXACT [ICD9CM_2006:356.3] DOID:10584 retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. [url:http\://en.wikipedia.org/wiki/Retinitis_pigmentosa, url:http\://ghr.nlm.nih.gov/condition/retinitis-pigmentosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/] RP EXACT [CSP2005:1114-9526] DOID:10585 hereditary and idiopathic peripheral neuropathy DOID:10587 Krabbe disease Krabbe's leukodystrophy EXACT [SNOMEDCT_2005_07_31:5710006] DOID:10588 adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. [url:http\://en.wikipedia.org/wiki/Adrenoleukodystrophy, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/] X-linked adrenoleukodystrophy EXACT [MTHICD9_2006:277.86] DOID:1059 intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. [url:http\://www.aamr.org/content_96.cfm?navID=20, url:http\://www.google.com/url?sa=t&source=web&cd=9&ved=0CGEQFjAI&url=http%3A%2F%2Fwww.nichcy.org%2FDisabilities%2FSpecific%2FPages%2FIntellectualDisability.aspx&rct=j&q=%20Search%20Intellectual%20Disability%3A%20Definition%2C%20Classification%2C%20and%20Systems%20of%20Supports%20&ei=_Y7dTJ-JKoX7lweUy837DA&usg=AFQjCNHf5WD4JW8kvTc901MQ6AUr_mRPpQ&sig2=sV1yzHR9plpkHZMXYtd8iA&cad=rja, url:http\://www.nichcy.org/disabilities/specific/pages/intellectualdisability.aspx#WhatisID.aspx] MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 EXACT [] DOID:10590 mild pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. [url:http\://emedicine.medscape.com/article/1476919-overview] DOID:10591 pre-eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. [PMID:24400024, url:http\://en.wikipedia.org/wiki/Pre-eclampsia, url:http\://ghr.nlm.nih.gov/condition/preeclampsia] toxaemia of pregnancy EXACT [SNOMEDCT_2005_07_31:156106005] DOID:10593 idiopathic progressive polyneuropathy Idiopathic progressive polyneuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:33209009] DOID:10594 idiopathic neuropathy Unspecified idiopathic peripheral neuropathy EXACT [ICD9CM_2006:356.9] DOID:10595 Charcot-Marie-Tooth disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. [url:https\://www.genome.gov/11009201] Peroneal muscular atrophy EXACT [ICD9CM_2006:356.1] DOID:10597 gonococcal meningitis Gonococcal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:151004] DOID:106 pleural tuberculosis An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. [url:http\://www.ncbi.nlm.nih.gov/pubmed/17426219] Tuberculous pleuritis (disorder) EXACT [SNOMEDCT_2005_07_31:171699006] DOID:1060 Hartnup disease An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup] neutral amino acid transport defect EXACT [CSP2005:1849-4235] DOID:10600 chronic tic disorder A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. [url:http\://en.wikipedia.org/wiki/Tic_disorder] chronic motor or vocal tic disorder EXACT [ICD9CM_2006:307.22] DOID:10602 steatorrhea Fatty stool (finding) EXACT [SNOMEDCT_2005_07_31:66187002] DOID:10603 glucose intolerance Malabsorption of glucose (disorder) EXACT [SNOMEDCT_2005_07_31:267426009] DOID:10604 lactose intolerance LM - Lactose malabsorption EXACT [SNOMEDCT_2005_07_31:190757002] DOID:10605 short bowel syndrome short gut syndrome EXACT [CSP2005:0724-8009] DOID:10606 blind loop syndrome An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. [PMID:20572300, url:https\://en.wikipedia.org/wiki/Blind_loop_syndrome] Blind loop syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:77225009] DOID:10607 tropical sprue Tropical steatorrhea EXACT [MTHICD9_2006:579.1] DOID:10608 celiac disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/celiac/, url:http\://en.wikipedia.org/wiki/Coeliac_disease, url:http\://www.celiac.org/, url:http\://www.mayoclinic.com/health/celiac-disease/DS00319, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000233.htm] idiopathic steatorrhea EXACT [MTHICD9_2006:579.0] DOID:10609 rickets A bone remodeling disease that has_material_basis_in \nimpaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. [url:http\://emedicine.medscape.com/article/985510-overview, url:http\://en.wikipedia.org/wiki/Rickets, url:http\://www.mayoclinic.com/health/rickets/DS00813, url:http\://www.ncbi.nlm.nih.gov/pubmed/26365554, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000344.htm, url:http\://www.umm.edu/ency/article/000344.htm, url:https\://en.wikipedia.org/wiki/Rickets#Types] vitamin D-dependent rickets EXACT [] DOID:1061 renal aminoaciduria inborn renal aminoaciduria EXACT [CSP2005:1849-1462] DOID:10610 pancreatic steatorrhea pancreatic steatorrhoea EXACT [SNOMEDCT_2005_07_31:155845009] DOID:10611 protein-losing enteropathy Protein-losing enteropathy (disorder) EXACT [SNOMEDCT_2005_07_31:66972006] DOID:10612 allergic urticaria Allergic urticaria (disorder) EXACT [SNOMEDCT_2005_07_31:40178009] DOID:10615 acute gonococcal cervicitis Gonococcal cervicitis (acute) EXACT [ICD9CM_2006:098.15] DOID:10616 acute cervicitis DOID:10619 lymph node cancer A lymphatic system cancer that is located_in the lymph node. [url:http\://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer] lymph node neoplasm EXACT [NCI2004_11_17:C35497] DOID:1062 Fanconi syndrome A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. [url:http\://en.wikipedia.org/wiki/Fanconi_syndrome, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000333.htm] Lignac-Fanconi syndrome EXACT [SNOMEDCT_2005_07_31:367374009] DOID:10621 Fissure of nipple associated with childbirth DOID:10626 insulin dependent type diabetes mellitus uncontrolled with ketoacidosis type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis EXACT [ICD9CM_2006:250.13] DOID:10627 primary optic atrophy primary optic atrophy (disorder) EXACT [SNOMEDCT_2005_07_31:21098003] DOID:10629 microphthalmia An eye disease where one or both eyeballs are abnormally small. [url:http\://en.wikipedia.org/wiki/Microphthalmia, url:http\://ghr.nlm.nih.gov/condition/microphthalmia] simple microphthalmos EXACT [] DOID:1063 interstitial nephritis renal tubulo-interstitial disease EXACT [SNOMEDCT_2005_07_31:198506002] DOID:10630 optic atrophy associated with retinal dystrophy optic atrophy associated with retinal dystrophy (disorder) EXACT [SNOMEDCT_2005_07_31:19448008] DOID:10631 partial optic atrophy Partial optic atrophy (disorder) EXACT [SNOMEDCT_2005_07_31:111527005] DOID:10632 Wolfram syndrome An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome, url:http\://omim.org/entry/222300] DIDMOAD EXACT [] DOID:1064 cystinosis A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17. [PMID:12110740, url:http\://ghr.nlm.nih.gov/condition/cystinosis, url:https\://en.wikipedia.org/wiki/Cystinosis] Cystinosis [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:367374009] DOID:10645 chronic state latent schizophrenia with acute exacerbation DOID:10646 schizotypal personality disorder A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. [url:http\://en.wikipedia.org/wiki/Schizotypal_personality_disorder] DOID:10648 acute inferoposterior infarction DOID:10649 acute inferolateral myocardial infarction DOID:10651 acute anterolateral myocardial infarction DOID:10652 Alzheimer's disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Alzheimer%27s_disease, url:http\://www.merriam-webster.com/medical/alzheimer%27s%20disease, url:http\://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet] Alzheimers dementia EXACT [NCI2004_11_17:C2866] DOID:10655 lipoma of colon Colonic Lipoma EXACT [NCI2004_11_17:C5493] DOID:10656 colon leiomyoma Colonic leiomyoma EXACT [NCI2004_11_17:C5492] DOID:10657 colonic lymphangioma Lymphangioma of colon EXACT [] DOID:10659 colonic ganglioneuroma DOID:1066 residual stage of open angle glaucoma Residual stage of open angle glaucoma EXACT [SNOMEDCT_2005_07_31:66990007] DOID:10660 mediastinum neuroblastoma A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. [url:http\://www.cancer.gov/dictionary?CdrID=45418] neuroblastoma of mediastinum EXACT [NCI2004_11_17:C6628] DOID:10661 mediastinum ganglioneuroblastoma Ganglioneuroblastoma of mediastinum EXACT [NCI2004_11_17:C6627] DOID:1067 open-angle glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. [url:http\://en.wikipedia.org/wiki/Glaucoma, url:http\://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html] Wide-angle glaucoma EXACT [MTHICD9_2006:365.10] DOID:1068 juvenile glaucoma Glaucoma of childhood EXACT [ICD9CM_2006:365.14] DOID:10685 separation anxiety disorder An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. [url:http\://en.wikipedia.org/wiki/Separation_anxiety_disorder] DOID:10686 lactocele Lactocele (disorder) EXACT [SNOMEDCT_2005_07_31:42385006] DOID:10688 hypertrophy of breast large breast EXACT [SNOMEDCT_2005_07_31:248809000] DOID:10689 galactorrhea not associated with childbirth Galactorrhoea EXACT [SNOMEDCT_2005_07_31:155965001] DOID:10690 mastitis Inflammatory disease of breast EXACT [ICD9CM_2006:611.0] DOID:10691 fat necrosis of breast breast Fat necrosis EXACT [NCI2004_11_17:C3661] DOID:10697 chronic endophthalmitis DOID:10699 paragonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm] pulmonary paragonimiasis EXACT [SNOMEDCT_2005_07_31:240808009] DOID:1070 primary open angle glaucoma chronic simple glaucoma EXACT [] DOID:10708 passive-aggressive personality disorder passive-aggressive personality disorder RELATED [] DOID:10717 meningococcal septicemia Meningococcemia, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187326004] DOID:10718 giardiasis A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. [url:http\://en.wikipedia.org/wiki/Giardiasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm] Infection by Giardia lamblia EXACT [MTHICD9_2006:007.1] DOID:10719 toxic diffuse goiter DOID:1073 renal hypertension DOID:10731 nodular lung tuberculosis A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf] DOID:1074 kidney failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. [url:http\://en.wikipedia.org/wiki/Renal_failure, url:http\://www.nlm.nih.gov/medlineplus/kidneyfailure.html] renal failure EXACT [SNOMEDCT_2005_07_31:198524000] DOID:10742 cerebral lipidosis Cerebral lipidosis (disorder) EXACT [SNOMEDCT_2005_07_31:16517004] DOID:10744 broad ligament malignant neoplasm malignant neoplasm of broad ligament of uterus EXACT [ICD9CM_2006:183.3] DOID:10747 lymphoid leukemia subacute lymphoid leukemia EXACT [] DOID:1075 chronic pyelonephritis with lesion of renal medullary necrosis DOID:10754 otitis media A otitis which involves inflammation of the middle ear. [url:http\://en.wikipedia.org/wiki/Otitis_media] DOID:10755 petrositis An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. [url:http\://medical-dictionary.thefreedictionary.com/petrositis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001254.htm] inflammation of petrous bone RELATED [] DOID:1076 chronic pyelonephritis DOID:10760 choroidal rupture Choroidal rupture (disorder) EXACT [SNOMEDCT_2005_07_31:2532009] DOID:10762 portal hypertension DOID:10763 hypertension An artery disease characterized by chronic elevated blood pressure in the arteries. [PMID:24352797, url:https\://en.wikipedia.org/wiki/Hypertension] vascular hypertensive disorder EXACT [NCI2004_11_17:C3117] DOID:10764 liver abscess and sequelae of chronic liver disease DOID:1077 Spirurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. [url:http\://en.wikipedia.org/wiki/Spirurida] filarial infectious disease and dracontiasis EXACT [] DOID:10772 thrombotic thrombocytopenic purpura Moschcowitz's syndrome EXACT [MTHICD9_2006:446.6] DOID:10773 bubonic plague A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. [url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area] Bubonic plague (disorder) EXACT [SNOMEDCT_2005_07_31:50797007] DOID:10774 cutaneous plague cellulocutaneous plague (disorder) EXACT [SNOMEDCT_2005_07_31:43484003] DOID:10778 fiedler's myocarditis Isolated (Fiedler's) myocarditis EXACT [SNOMEDCT_2005_07_31:194954007] DOID:10779 septic myocarditis Septic myocarditis, NOS EXACT [SNOMEDCT_2005_07_31:64043005] DOID:1078 Chromadorea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. [url:http\://en.wikipedia.org/wiki/Chromadoria] secernentea infectious disease EXACT [] DOID:10780 primary polycythemia Familiar Polycythemia EXACT [NCI2004_11_17:C26955] DOID:10782 mesenteric lymphadenitis Mesenteric lymphadenitis (disorder) EXACT [SNOMEDCT_2005_07_31:44897000] DOID:10783 methemoglobinemia DOID:10784 Queensland tick typhus A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html] Rickettsia australis spotted fever EXACT [] DOID:10787 premature menopause Menopause praecox EXACT [SNOMEDCT_2005_07_31:74296006] DOID:10788 osteitis condensans Sclerosing osteitis EXACT [SNOMEDCT_2005_07_31:54691007] DOID:1079 setariasis A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. [url:http\://www.jstor.org/stable/pdfplus/3277411.pdf] Infectious Disease by Setaria (disorder) EXACT [SNOMEDCT_2005_07_31:4414005] DOID:10790 chronic frontal sinusitis A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] DOID:10791 frontal sinusitis A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] DOID:10792 chronic maxillary sinusitis A maxillary sinusitis which lasts for 12 weeks or more. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] chronic antritis EXACT [SNOMEDCT_2005_07_31:8299006] DOID:10793 chronic sphenoidal sinusitis A sphenoid sinusitis which lasts for 12 weeks or more. [url:http\://en.wikipedia.org/wiki/sinusitis] Sphenoidal sinus-chr. EXACT [SNOMEDCT_2005_07_31:266384001] DOID:10794 sphenoid sinusitis A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. [url:http\://en.wikipedia.org/wiki/sinusitis] Sphenoidal sinusitis EXACT [NCI2004_11_17:C35031] DOID:10795 congenital syphilitic encephalitis Encephalitis due to congenital syphilis EXACT [SNOMEDCT_2005_07_31:192699001] DOID:1080 filariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. [url:http\://en.wikipedia.org/wiki/Filariasis] disease due to superfamily Filarioidea (disorder) EXACT [SNOMEDCT_2005_07_31:105706003] DOID:10802 acute gonococcal epididymo-orchitis Gonococcal epididymo-orchitis (acute) EXACT [ICD9CM_2006:098.13] DOID:10803 Haemophilus influenzae meningitis Hemophilus meningitis EXACT [ICD9CM_2006:320.0] DOID:10808 gastric ulcer chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction EXACT [ICD9CM_2006:531.71] DOID:1081 mansonelliasis A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. [url:http\://en.wikipedia.org/wiki/Mansonelliasis] Mansonelliasis (disorder) EXACT [SNOMEDCT_2005_07_31:240849009] DOID:10810 tibialis tendinitis Tibialis tendinitis (disorder) EXACT [SNOMEDCT_2005_07_31:50127006] DOID:10811 nasal cavity cancer A respiratory system cancer that is located_in the nasal cavity. [url:http\://en.wikipedia.org/wiki/Nasal_cavity] malignant tumor of the nasal cavity EXACT [NCI2004_11_17:C4918] DOID:10812 nasal cavity olfactory neuroblastoma Olfactory neuroblastoma of the nasal cavity EXACT [NCI2004_11_17:C7604] DOID:10813 nasal cavity lymphoma Lymphoma of the nasal cavity EXACT [NCI2004_11_17:C6074] DOID:10815 recurrent duodenal cancer recurrent malignant Duodenal neoplasm EXACT [NCI2004_11_17:C9263] DOID:10816 duodenum adenocarcinoma A duodenum cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Duodenal adenocarcinoma EXACT [NCI2004_11_17:C7889] DOID:10817 sexual sadism DOID:10818 leptospiral meningitis Leptospiral meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:186956008] DOID:1082 dirofilariasis A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. [url:http\://emedicine.medscape.com/article/236698-overview] Infection by Dirofilaria (disorder) EXACT [SNOMEDCT_2005_07_31:73328005] DOID:10823 malignant essential hypertension malignant essential hypertension (disorder) EXACT [SNOMEDCT_2005_07_31:78975002] DOID:10824 malignant hypertension DOID:10825 essential hypertension A hypertension with no known cause. It is the most common type of hypertension. [url:http\://en.wikipedia.org/wiki/Essential_hypertension, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html] primary hypertension EXACT [NCI2004_11_17:C3478] DOID:10827 gender identity disorder in adolescent or adult DOID:10834 voyeurism DOID:10835 chylocele of tunica vaginalis DOID:10836 diabetes mellitus with hyperosmolarity DOID:10837 diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled EXACT [ICD9CM_2006:250.21] DOID:10838 diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled EXACT [ICD9CM_2006:250.23] DOID:10841 Eastern equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. [url:http\://www.cdc.gov/EasternEquineEncephalitis/index.html, url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.ncagr.gov/vet/FactSheets/EEE.htm] Neuroinvasive Eastern equine encephalitis virus infection EXACT [SNOMEDCT_2005_07_31:417496004] DOID:10842 Murray Valley encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. [url:http\://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/13007862] Australian X disease EXACT [MTHICD9_2006:062.4] DOID:10843 Western equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] WEE RELATED [] DOID:10844 Japanese encephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm] Japanese B encephalitis EXACT [MTHICD9_2006:062.0] DOID:10845 St. Louis encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html] Neuroinvasive St. Louis encephalitis virus infection EXACT [SNOMEDCT_2005_07_31:417607009] DOID:10846 angiodysplasia of intestine DOID:10848 intrauterine hypoxia and birth asphyxia DOID:10849 sexual masochism DOID:1085 Edwards syndrome trisomy 18 EXACT [] DOID:10852 middle ear cholesterol granuloma A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. [url:http\://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16354369] Cholesterin granuloma of middle ear EXACT [ICD9CM_2006:385.82] DOID:10854 salivary gland disease Salivary gland disease EXACT [] DOID:1086 congenital chromosomal disease DOID:10863 paralytic squint Paralytic strabismus EXACT [ICD9CM_2006:378.5] DOID:10864 partial third-nerve palsy Third or oculomotor nerve palsy, partial EXACT [ICD9CM_2006:378.51] DOID:10865 abducens nerve disease VIth nerve Paralysis EXACT [NCI2004_11_17:C27592] DOID:10866 total third-nerve palsy Total third nerve palsy EXACT [SNOMEDCT_2005_07_31:85522003] DOID:10869 fourth cranial nerve palsy Fourth or trochlear nerve palsy EXACT [ICD9CM_2006:378.53] DOID:10871 age related macular degeneration A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. [url:http\://en.wikipedia.org/wiki/Macular_degeneration, url:http\://www.nei.nih.gov/health/maculardegen/armd_facts.asp] Senile macular retinal degeneration EXACT [SNOMEDCT_2005_07_31:302891003] DOID:10873 Kuhnt-Junius degeneration Wet senile macular retinal degeneration EXACT [SNOMEDCT_2005_07_31:16018000] DOID:10875 premature labor Premature labour EXACT [SNOMEDCT_2005_07_31:199046005] DOID:10877 disorganized type schizophrenia chronic state with acute exacerbation DOID:1088 meningocele Meningocele, NOS EXACT [SNOMEDCT_2005_07_31:32941003] DOID:10880 iliac vein thrombophlebitis Phlebitis and thrombophlebitis of the iliac vein NOS (disorder) EXACT [SNOMEDCT_2005_07_31:195429006] DOID:10881 hand, foot and mouth disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. [url:http\://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm] Vesicular stomatitis and exanthem EXACT [MTHICD9_2006:074.3] DOID:10882 epidemic pleurodynia A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. [url:http\://emedicine.medscape.com/article/300049-overview] Epidemic, myositis EXACT [MTHICD9_2006:074.1] DOID:10883 herpangina A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. [url:http\://emedicine.medscape.com/article/218502-overview, url:http\://en.wikipedia.org/wiki/Herpangina, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000969.htm] Vesicular pharyngitis EXACT [MTHICD9_2006:074.0] DOID:10887 lepromatous leprosy A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217] type L leprosy EXACT [MTHICD9_2006:030.0] DOID:1089 tethered spinal cord syndrome spinal dysraphism EXACT [] DOID:10892 hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. [url:http\://en.wikipedia.org/wiki/Hypospadias, url:http\://ghr.nlm.nih.gov/glossary=hypospadias] familial hypospadias EXACT [] DOID:10901 leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:93147005] DOID:10902 pulmonary actinomycosis An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000074.htm] thoracic actinomycosis EXACT [] DOID:10907 microcephaly microencephaly EXACT [CSP2005:0723-5649] DOID:10908 hydrocephalus A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. [url:http\://en.wikipedia.org/wiki/Hydrocephalus, url:http\://ghr.nlm.nih.gov/glossary=hydrocephalus, url:http\://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956] hydrocephalus, X-linked EXACT [MSH:C536078] DOID:1091 tooth disease dental disorder EXACT [CSP2005:0828-0533] DOID:10910 echovirus meningitis A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf] DOID:10911 echovirus infectious disease An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. [url:http\://en.wikipedia.org/wiki/Echovirus] Enteric cytopathic human orphan virus infection RELATED [] DOID:10913 benign essential hypertension benign essential hypertension (disorder) EXACT [SNOMEDCT_2005_07_31:1201005] DOID:10914 amnestic disorder A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. [url:http\://en.wikipedia.org/wiki/Amnesia, url:http\://www.minddisorders.com/A-Br/Amnestic-disorders.html] Korsakoff's psychosis or syndrome EXACT [MTHICD9_2006:294.0] DOID:10915 Wernicke-Korsakoff syndrome Korsakov's psychosis EXACT [SNOMEDCT_2005_07_31:268745002] DOID:10918 transsexuality with asexual history Transsexuality with asexual history (disorder) EXACT [SNOMEDCT_2005_07_31:191783002] DOID:10919 transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. [url:http\://en.wikipedia.org/wiki/Transsexualism] DOID:10921 Siberian tick typhus A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. [url:http\://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html] Siberian tick typhus (disorder) EXACT [SNOMEDCT_2005_07_31:186782005] DOID:10922 sickle-cell crisis sickle cell crisis EXACT [CSP2005:1418-5715] DOID:10923 sickle cell anemia Sickle-cell/Hb-C disease without crisis EXACT [ICD9CM_2006:282.63] DOID:10924 catatonic type schizophrenia chronic state DOID:10925 catatonic schizophrenia DOID:10927 gastrojejunal ulcer chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction EXACT [ICD9CM_2006:534.70] DOID:10930 borderline personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. [url:http\://en.wikipedia.org/wiki/Borderline_personality_disorder] DOID:10931 dependent personality disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. [url:http\://en.wikipedia.org/wiki/Dependent_personality_disorder] DOID:10932 obsessive-compulsive personality disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. [url:http\://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder] OCPD EXACT [] DOID:10933 obsessive-compulsive disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001926/] obsessive compulsive disorder EXACT [] DOID:10934 multiple personality disorder A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. [url:http\://en.wikipedia.org/wiki/Dissociative_identity_disorder] Dissociative identity disorder EXACT [ICD9CM_2006:300.14] DOID:10935 dissociative disorder A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). [url:http\://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html] dissociative reaction EXACT [CSP2005:2483-7018] DOID:10936 schizoid personality disorder A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. [url:http\://en.wikipedia.org/wiki/Schizoid_personality_disorder] DOID:10937 impulse control disorder A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. [url:http\://www.forensicpsychiatry.ca/impulse/overview.htm] DOID:10938 paranoid personality disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. [url:http\://en.wikipedia.org/wiki/Paranoid_personality_disorder] DOID:10939 antisocial personality disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. [url:http\://en.wikipedia.org/wiki/Antisocial_personality_disorder] sociopathic personality EXACT [CSP2005:2483-7185] DOID:1094 attention deficit hyperactivity disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone\ and symptoms starting before seven years of age." [url:http\://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder] hyperkinetic disorder EXACT [] DOID:10941 intracranial aneurysm brain aneurysm EXACT [] DOID:10944 tongue disease DOID:10952 nephritis DOID:10955 strongyloidiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. [url:http\://en.wikipedia.org/wiki/Strongyloidiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm] Infection by Strongyloides (disorder) EXACT [SNOMEDCT_2005_07_31:1214006] DOID:10957 Enterobacter aerogenes intestinal infectious disease An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. [url:http\://emedicine.medscape.com/article/216845-overview] intestinal infection due to aerobacter aerogenes EXACT [ICD9CM_2006:008.2] DOID:10958 Salmonella arizonae intestinal infectious disease A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14662995] intestinal infectious disease due to arizona group of paracolon bacilli EXACT [] DOID:10959 Escherichia coli intestinal infectious disease A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html, url:http\://www.who.int/mediacentre/factsheets/fs125/en/] intestinal infectious disease due to Escherichia coli EXACT [] DOID:10963 cholesteatoma of attic DOID:10964 cholesteatoma of middle ear Unspecified cholesteatoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:194338004] DOID:10965 spastic diplegia A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic] Spastic diplegia (disorder) EXACT [SNOMEDCT_2005_07_31:281411007] DOID:10966 lipoid nephrosis Nephrotic syndrome with lesion of minimal change nephrotic syndrome EXACT [MTHICD9_2006:581.3] DOID:10967 spastic hemiplegia A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic] spastic hemiplegic cerebral palsy EXACT [] DOID:10968 spastic monoplegia A spastic cerebral palsy that affects only one limb. [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic] spastic monoplegic cerebral palsy EXACT [] DOID:10969 hemiplegia Postnatal infantile hemiplegia NOS EXACT [MTHICD9_2006:343.4] DOID:1097 hydrops fetalis Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. [stedman:rlc, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis] DOID:10970 spastic quadriplegia A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic] tetraplegic infantile cerebral palsy EXACT [MTHICD9_2006:343.2] DOID:10971 acute salpingo-oophoritis acute salpingitis and oophoritis EXACT [ICD9CM_2006:614.0] DOID:10972 salpingo-oophoritis Tubo-ovarian inflammatory disease EXACT [MTHICD9_2006:614.2] DOID:10973 acute salpingitis DOID:10974 oophoritis DOID:10976 membranous glomerulonephritis membranous nephropathy EXACT [CSP2005:4006-0062] DOID:10978 poliovirus type III nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] acute nonparalytic poliomyelitis poliovirus type III EXACT [] DOID:10979 poliovirus type I nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] acute nonparalytic poliomyelitis poliovirus type I EXACT [] DOID:1098 fetal erythroblastosis erythroblastosis fetalis EXACT [CSP2005:0441-2309] DOID:10980 poliovirus type II nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] acute nonparalytic poliomyelitis poliovirus type II EXACT [] DOID:10983 Alport syndrome A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. [url:http\://en.wikipedia.org/wiki/Alport_syndrome] Hereditary Nephritis EXACT [NCI2004_11_17:C34842] DOID:10986 discitis discitis (disorder) EXACT [SNOMEDCT_2005_07_31:2304001] DOID:10989 conjunctival vascular disease vascular abnormalities of conjunctiva EXACT [ICD9CM_2006:372.74] DOID:1099 alpha thalassemia Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. [url:http\://en.wikipedia.org/wiki/Alpha_Thalassemia] Hemoglobin H disease EXACT [NCI2004_11_17:C34368] DOID:10991 basal ganglia cerebrovascular disease DOID:10992 acute hemorrhagic leukoencephalitis A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis, url:http\://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1] Weston-Hurst syndrome EXACT [] DOID:10993 postinfectious encephalitis Postinfective encephalitis EXACT [SNOMEDCT_2005_07_31:154989001] DOID:10997 immature cataract Water clefts EXACT [MTHICD9_2006:366.12] DOID:10998 chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis DOID:110 lens disease DOID:1100 ovarian disease DOID:11000 progressive iris atrophy Essential or progressive iris atrophy EXACT [ICD9CM_2006:364.51] DOID:11001 Iris and ciliary body degeneration DOID:11002 Iridoschisis Iridoschisis (disorder) EXACT [SNOMEDCT_2005_07_31:5743005] DOID:11003 pupillary margin miotic cyst Miotic cysts of pupillary margin EXACT [ICD9CM_2006:364.55] DOID:11005 Atrophy of sphincter of iris degeneration of pupillary margin (disorder) EXACT [SNOMEDCT_2005_07_31:25859000] DOID:11014 anorectal stricture Stenosis of rectum and anus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197218008] DOID:11018 postsurgical testicular hypofunction Postsurgical testicular hypofunction (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:60237007] DOID:11019 testicular dysfunction DOID:11020 chronic glomerulonephritis with lesion of proliferative glomerulonephritis chronic glomerulonephritis with lesion of proliferative glomerulonephritis EXACT [ICD9CM_2006:582.0] DOID:11027 chronic glomerulonephritis with lesion of membranous glomerulonephritis chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis EXACT [NCI2004_11_17:C34475] DOID:11028 pseudopterygium DOID:11029 pinguecula DOID:1103 malignant esophageal neoplasm by topographic region DOID:11030 corneal edema Corneal oedema EXACT [SNOMEDCT_2005_07_31:155158008] DOID:11031 bullous keratopathy DOID:11032 secondary corneal edema DOID:11033 idiopathic corneal edema DOID:11034 contact lens corneal edema DOID:11036 chronic rapidly progressive glomerulonephritis chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis EXACT [ICD9CM_2006:582.4] DOID:11037 dissociative amnesia A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. [url:http\://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html] psychogenic amnesia EXACT [CSP2005:2483-7018] DOID:11038 depersonalization disorder A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. [url:http\://en.wikipedia.org/wiki/Depersonalization_disorder] Neurotic derealization EXACT [MTHICD9_2006:300.6] DOID:11042 Felty's syndrome A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. [url:http\://emedicine.medscape.com/article/329734-overview, url:http\://en.wikipedia.org/wiki/Felty%27s_syndrome, url:http\://www.medicinenet.com/feltys_syndrome/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000445.htm] Rheumatoid arthritis with splenoadenomegaly and leukopenia EXACT [MTHICD9_2006:714.1] DOID:11044 gastroschisis Gastroschisis (disorder) EXACT [SNOMEDCT_2005_07_31:72951007] DOID:11049 meconium aspiration syndrome Neonatal aspiration of meconium EXACT [SNOMEDCT_2005_07_31:278927005] DOID:1105 esophageal metastasis metastatic tumor to the esophagus EXACT [NCI2004_11_17:C7479] DOID:11054 urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder. [url:http\://en.wikipedia.org/wiki/Bladder_cancer] tumor of the bladder EXACT [NCI2004_11_17:C2901] DOID:11055 pasteurellosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. [url:http\://emedicine.medscape.com/article/224920-clinical#a0217, url:http\://en.wikipedia.org/wiki/Pasteurellosis] Pasteurella infectious disease EXACT [] DOID:11056 Pasteurella hemorrhagic septicemia hemorrhagic septicemia EXACT [] DOID:1106 esophagus lymphoma Lymphoma of esophagus EXACT [NCI2004_11_17:C5687] DOID:11060 placenta praevia A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. [url:http\://en.wikipedia.org/wiki/Placenta_previa] DOID:1107 esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Esophageal_cancer] carcinoma of oesophagus EXACT [SNOMEDCT_2005_07_31:154441003] DOID:11074 cyst of thyroid Thyroid cyst EXACT [SNOMEDCT_2005_07_31:154669004] DOID:11076 Brucella suis brucellosis A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm] DOID:11077 brucellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm] undulant fever EXACT [] DOID:11079 leech infestation A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. [url:http\://en.wikipedia.org/wiki/Leech, url:http\://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057] Leeches EXACT [MTHICD9_2006:134.2] DOID:1108 esophagus melanoma melanoma of esophagus EXACT [NCI2004_11_17:C5707] DOID:11080 myiasis A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] Myiasis, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187547004] DOID:11086 chorioretinal scar DOID:11088 asphyxia neonatorum postnatal asphyxia EXACT [CSP2005:0726-3340] DOID:1109 extracutaneous melanoma DOID:11091 perinatal respiratory disorder Unspecified respiratory condition of fetus and newborn EXACT [ICD9CM_2006:770.9] DOID:11092 Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/12631900] Salmonellosis (& [gastroenteritis] or [food poisoning]) EXACT [SNOMEDCT_2005_07_31:186094005] DOID:11093 bacterial gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000254.htm] Gastroenteritis - bact. EXACT [SNOMEDCT_2005_07_31:266173000] DOID:11096 renal syphilis Syphilis of kidney (disorder) EXACT [SNOMEDCT_2005_07_31:59530001] DOID:11097 pulmonary syphilis A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. [url:http\://sti.bmj.com/cgi/reprint/4/4/290.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf] Syphilis of lung (disorder) EXACT [SNOMEDCT_2005_07_31:8555001] DOID:11099 primary Rickettsiaceae infectious disease DOID:1110 gastrointestinal melanoma DOID:11100 Q fever A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.cdc.gov/qfever/symptoms/index.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15021054] Infection due to Coxiella burnetii (disorder) EXACT [SNOMEDCT_2005_07_31:260588007] DOID:11101 trench fever A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. [url:http\://emedicine.medscape.com/article/230294-clinical, url:http\://en.wikipedia.org/wiki/Trench_fever] Wolhynian fever EXACT [MTHICD9_2006:083.1] DOID:11102 bartonellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. [url:http\://en.wikipedia/org/wiki/Bartonellosis] Rochalimaea infection (disorder) EXACT [SNOMEDCT_2005_07_31:240623002] DOID:11103 rickettsialpox A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. [url:http\://emedicine.medscape.com/article/227956-overview#a0104, url:http\://www.cdc.gov/otherspottedfever/index.html] Vesicular rickettsiosis EXACT [MTHICD9_2006:083.2] DOID:11104 spotted fever A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. [url:http\://emedicine.medscape.com/article/785659-overview#a0104, url:http\://www.cdc.gov/otherspottedfever/index.html] Spotted fever group rickettsial disease (disorder) EXACT [SNOMEDCT_2005_07_31:186771002] DOID:11105 fundus albipunctatus A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. [url:http\://www.omim.org/entry/136880] retinitis punctata albescens EXACT [] DOID:11106 glaucoma associated with anterior segment anomaly Glaucoma associated with other anterior segment anomalies EXACT [ICD9CM_2006:365.43] DOID:11107 glaucoma associated with ocular disorder DOID:1111 malignant neoplasm of cervical part of esophagus malignant tumor of cervical part of esophagus (disorder) EXACT [SNOMEDCT_2005_07_31:187722004] DOID:11110 psychosexual dysfunction with female orgasmic disease DOID:11111 hydronephrosis DOID:11118 syphilitic retrobulbar neuritis Syphilitic retrobulbar neuritis (disorder) EXACT [SNOMEDCT_2005_07_31:36276008] DOID:11119 Gilles de la Tourette syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. [url:http\://emedicine.medscape.com/article/1182258-overview, url:http\://en.wikipedia.org/wiki/Tic_disorder, url:http\://en.wikipedia.org/wiki/Tourette%27s_disorder] Tourette syndrome EXACT [] DOID:1112 neck cancer neck cancer EXACT [CSP2005:2005-4325] DOID:11120 psychologic dyspareunia Psychologic dyspareunia (disorder) EXACT [SNOMEDCT_2005_07_31:41021005] DOID:11121 pulpitis pulpitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196331007] DOID:11123 Henoch-Schoenlein purpura Purpura: [allergic] or [Henoch-Schonlein allergy] EXACT [SNOMEDCT_2005_07_31:267565009] DOID:11125 qualitative platelet defect Qualitative platelet deficiency NOS (disorder) EXACT [SNOMEDCT_2005_07_31:191311007] DOID:11126 acquired thrombocytopenia secondary thrombocytopenia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:267537007] DOID:11129 dislocation of ear ossicle DOID:1113 malignant esophageal neoplasm by anatomic region DOID:11130 secondary hypertension DOID:11132 prostatic hypertrophy DOID:11133 prostatic cyst Cyst of prostate EXACT [ICD9CM_2006:600.3] DOID:11134 prolapse of lacrimal gland Dislocation of lacrimal gland EXACT [ICD9CM_2006:375.16] DOID:1114 esophagus sarcoma An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. [url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.google.com/search?hl=en&client=firefox-a&hs=X3f&rls=org.mozilla\:en-US\:official&ei=wxHfS4jAC4a8NualnMwH&sa=X&oi=spell&resnum=0&ct=result&cd=1&ved=0CA0QBSgA&q=esophageal+sarcoma&spell=1] esophageal sarcoma RELATED [] DOID:11144 anthrax septicemia Anthrax septicemia (disorder) EXACT [SNOMEDCT_2005_07_31:14972006] DOID:11145 Pars plana primary cyst primary cyst of pars plana (disorder) EXACT [SNOMEDCT_2005_07_31:47269005] DOID:11147 vascular lesions of cord complicating labor and delivery vascular lesions of cord complicating labor and delivery, delivered EXACT [] DOID:11148 hypersecretion glaucoma DOID:11149 aqueous misdirection DOID:1115 sarcoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm. [url:http\://cancergenome.nih.gov/cancersselected/Sarcoma, url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.cancer.gov/dictionary?CdrID=45562] tumor of soft tissue and skeleton EXACT [NCI2004_11_17:C3810] DOID:11150 glaucoma due to raised episcleral venous pressure Glaucoma with increased episcleral venous pressure (disorder) EXACT [SNOMEDCT_2005_07_31:34623005] DOID:11151 cholecystolithiasis DOID:11153 miliaria rubra Sudamina EXACT [MTHICD9_2006:705.1] DOID:11155 hypohidrosis Oligohidrosis EXACT [SNOMEDCT_2005_07_31:201189007] DOID:11156 anhidrosis Anhidrosis (disorder) EXACT [SNOMEDCT_2005_07_31:39659002] DOID:11158 disorder of optic chiasm associated with non-pituitary neoplasm disorder of optic chiasm associated with other neoplasm EXACT [ICD9CM_2006:377.52] DOID:1116 pertussis A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800] whooping cough EXACT [CSP2005:0368-3326] DOID:11161 neonatal respiratory failure respiratory failure of newborn EXACT [ICD9CM_2006:770.84] DOID:11162 respiratory failure A lung disease characterized by inadequate gas exchange by the respiratory system. [url:http\://en.wikipedia.org/wiki/Respiratory_failure] respiratory insufficiency/failure EXACT [CSP2005:2596-8662] DOID:11163 apnea of prematurity primary apnea of newborn EXACT [] DOID:11164 band keratopathy Band-shaped keratopathy EXACT [ICD9CM_2006:371.43] DOID:11165 common wart A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://en.wikipedia.org/wiki/Wart] DOID:11166 papillomavirus infectious disease A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. [url:http\://emedicine.medscape.com/article/219110-overview] Tumor Virus Infections RELATED [] DOID:11167 uterine cervix condylomata acuminata An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. [url:http\://emedicine.medscape.com/article/781735-overview] Condyloma of the Cervix Uteri EXACT [NCI2004_11_17:C8421] DOID:11168 anogenital venereal wart A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194d.html] venereal wart EXACT [CSP2005:2020-4312] DOID:11169 vaginal condylomata acuminata An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. [url:http\://emedicine.medscape.com/article/781735-overview] vaginal Condyloma Acuminatum EXACT [NCI2004_11_17:C4947] DOID:11170 vulvar condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. [url:http\://emedicine.medscape.com/article/781735-overview] Vulvar Condyloma EXACT [NCI2004_11_17:C4382] DOID:11171 urethral condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. [url:http\://emedicine.medscape.com/article/781735-overview] urethral Condylomata EXACT [NCI2004_11_17:C6169] DOID:11172 anal condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. [url:http\://emedicine.medscape.com/article/781735-overview] Condylomata of anus EXACT [NCI2004_11_17:C4054] DOID:11175 enophthalmos DOID:11177 total internal ophthalmoplegia DOID:11179 otitis media with effusion A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion] Transudative otitis media EXACT [SNOMEDCT_2005_07_31:43481006] DOID:11180 non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] Nonsuppurative otitis media EXACT [SNOMEDCT_2005_07_31:45935001] DOID:11181 serous glue ear A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion] DOID:11182 chronic otitis media with effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] DOID:11183 Haemophilus influenzae septicemia Septicemia due to hemophilus influenzae [H. influenzae] EXACT [ICD9CM_2006:038.41] DOID:11184 acute conjunctivitis DOID:11186 allescheriosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. [url:http\://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/934264] Petriellidosis EXACT [MTHICD9_2006:117.6] DOID:11189 pulp degeneration DOID:1119 large for dates affecting management of mother Excessive fetal growth, affecting management of mother, delivered EXACT [ICD9CM_2006:656.61] DOID:11190 pseudomembranous conjunctivitis A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. [url:http\://bjo.bmj.com/content/55/5/312.full.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/9400798] DOID:11193 syndactyly A synostosis that results_in the fusion of two or more digits. [url:http\://emedicine.medscape.com/article/1244420-overview, url:http\://en.wikipedia.org/wiki/Syndactyly, url:http\://www.hmc.psu.edu/healthinfo/pq/poly.htm, url:http\://www.wheelessonline.com/ortho/syndactyly] webbing of digits EXACT [MTHICD9_2006:755.1] DOID:11195 acute laryngopharyngitis An upper respiratory tract disease which involves inflammation of both larynx and pharynx. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis] DOID:11197 serous conjunctivitis except viral serous conjunctivitis, except viral EXACT [SNOMEDCT_2005_07_31:9824006] DOID:11198 DiGeorge syndrome A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. [url:http\://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome] Pharyngeal pouch syndrome EXACT [MTHICD9_2006:279.11] DOID:11199 hypoparathyroidism A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. [url:http\://en.wikipedia.org/wiki/Hypoparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hypoparathyroidism, url:http\://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956] DOID:112 esophageal varix esophageal varices without mention of bleeding EXACT [ICD9CM_2006:456.1] DOID:11200 T cell deficiency DOID:11201 parathyroid gland disease An endocrine system disease that is located_in the parathyroid gland. [url:http\://en.wikipedia.org/wiki/Parathyroid_disease] disease of parathyroid glands EXACT [] DOID:11202 primary hyperparathyroidism primary hyperparathyroidism (disorder) EXACT [SNOMEDCT_2005_07_31:36348003] DOID:11203 Angelucci's syndrome Angelucci syndrome EXACT [] DOID:11204 allergic conjunctivitis A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_conjunctivitis] DOID:11206 opioid abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. [url:http\://en.wikipedia.org/wiki/Opioid] DOID:11211 buphthalmos simple buphthalmos EXACT [SNOMEDCT_2005_07_31:268157004] DOID:11212 hydrophthalmos DOID:11213 acute contagious conjunctivitis Pinkeye EXACT [SNOMEDCT_2005_07_31:399219006] DOID:11215 premature rupture of the fetal membranes Premature rupture of membranes - delivered (disorder) EXACT [SNOMEDCT_2005_07_31:199658006] DOID:11217 chronic tympanitis DOID:11219 conjunctival folliculosis acute follicular conjunctivitis EXACT [ICD9CM_2006:372.02] DOID:1122 spinal enthesopathy Spinal enthesopathy (disorder) EXACT [SNOMEDCT_2005_07_31:10317009] DOID:11223 small intestine diverticulitis Diverticulosis of small intestine with hemorrhage EXACT [] DOID:11227 acute hemorrhagic conjunctivitis A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5328a2.htm, url:http\://www.cdc.gov/ncidod/eid/vol5no2/maitreyi.htm, url:http\://www.doh.state.fl.us/disease_ctrl/epi/htopics/reports/ahcpres.pdf] viral conjunctivitis RELATED [] DOID:1123 spondyloarthropathy spondylarthrosis EXACT [] DOID:11230 acute orbital inflammation acute inflammation of orbit EXACT [ICD9CM_2006:376.0] DOID:11231 orbital periostitis orbital periostitis EXACT [SNOMEDCT_2005_07_31:65974003] DOID:11232 orbital osteomyelitis orbital osteomyelitis EXACT [SNOMEDCT_2005_07_31:65875003] DOID:11233 orbital tenonitis Tenonitis EXACT [SNOMEDCT_2005_07_31:8976003] DOID:11234 orbital cellulitis orbital cellulitis EXACT [SNOMEDCT_2005_07_31:194005002] DOID:11235 chronic adhesive otitis media DOID:11239 appendix cancer A intestinal cancer that is located_in the appendix. [url:http\://en.wikipedia.org/wiki/Vermiform_appendix] malignant tumor of the appendix EXACT [NCI2004_11_17:C9333] DOID:11240 appendiceal neoplasm neoplasm of appendix (disorder) EXACT [SNOMEDCT_2005_07_31:126846004] DOID:11241 appendix lymphoma Appendiceal Lymphoma EXACT [NCI2004_11_17:C5513] DOID:11242 plethora of newborn Neonatal polycythemia (disorder) EXACT [SNOMEDCT_2005_07_31:32984002] DOID:11243 anemia of prematurity Anemia of prematurity (disorder) EXACT [SNOMEDCT_2005_07_31:47100003] DOID:11244 neonatal anemia Neonatal anemia, NOS EXACT [SNOMEDCT_2005_07_31:33130007] DOID:11245 transient neonatal neutropenia Transient neonatal neutropenia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:206520003] DOID:11246 DIC in newborn Disseminated intravascular coagulation in newborn (disorder) EXACT [SNOMEDCT_2005_07_31:34417008] DOID:11247 disseminated intravascular coagulation Diffuse or disseminated intravascular coagulation EXACT [MTHICD9_2006:286.6] DOID:11248 hemorrhagic disease of newborn Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:12546009] DOID:11249 vitamin K deficiency hemorrhagic disease vitamin K deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:52675005] DOID:11252 microcytic anemia DOID:11254 Brill-Zinsser disease An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. [url:http\://en.wikipedia.org/wiki/Epidemic_typhus] Sporadic typhus RELATED [] DOID:11256 typhus A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. [url:http\://emedicine.medscape.com/article/231374-overview#a0104] Urban typhus RELATED [] DOID:11257 social phobia A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. [url:http\://en.wikipedia.org/wiki/Social_phobia] DOID:11258 cat-scratch disease A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. [url:http\://en.wikipedia.org/wiki/Cat_scratch_disease, url:http\://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#] Foshay-Mollaret Cat Scratch Fever EXACT [] DOID:11259 Cytomegalovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. [url:http\://en.wikipedia.org/wiki/Cytomegalovirus] Salivary gland virus disease EXACT [SNOMEDCT_2005_07_31:186695007] DOID:11260 rabies A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. [url:http\://en.wikipedia.org/wiki/Rabies, url:http\://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx] Lyssa EXACT [MTHICD9_2006:071] DOID:11261 foot and mouth disease A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. [url:http\://www.aphis.usda.gov/publications/animal_health/content/printable_version/fs_foot_mouth_disease07.pdf] Epizootic stomatitis EXACT [MTHICD9_2006:078.4] DOID:11262 ornithosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. [url:http\://en.wikipedia.org/wiki/Psittacosis, url:http\://www.nyc.gov/html/doh/html/cd/cdpsit.shtml] psittacosis EXACT [] DOID:11263 chlamydia A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. [url:http\://en.wikipedia.org/wiki/Chlamydia_infection] Chlamydial Infection EXACT [NCI2004_11_17:C34463] DOID:11264 Chlamydophila infectious disease DOID:11265 trachoma A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. [url:http\://en.wikipedia.org/wiki/Trachoma, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm, url:http\://www.who.int/blindness/causes/priority/en/index2.html] trachoma dubium EXACT [] DOID:11266 hemorrhagic fever with renal syndrome A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. [url:http\://emedicine.medscape.com/article/982142-overview, url:http\://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm] Puumala virus nephropathy (disorder) EXACT [SNOMEDCT_2005_07_31:364756009] DOID:11267 keratomalacia DOID:11268 vitamin A deficiency with keratomalacia vitamin A deficiency with keratomalacia (disorder) EXACT [SNOMEDCT_2005_07_31:42639000] DOID:11269 chronic apical periodontitis chronic apical periodontitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196345001] DOID:11271 hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium hypertension secondary to renal disease, with delivery EXACT [] DOID:11275 muscle syphilis Syphilis of muscle (disorder) EXACT [SNOMEDCT_2005_07_31:88943008] DOID:11277 Plummer's disease Toxic nodular goiter unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:190250001] DOID:11282 solar retinopathy Solar retinitis EXACT [SNOMEDCT_2005_07_31:1135000] DOID:11283 peripheral scars of retina DOID:11284 disseminated scars of retina DOID:11285 tick paralysis A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm, url:http\://www.journals.uchicago.edu/doi/pdf/10.1086/313502, url:http\://www.ncbi.nlm.nih.gov/pubmed/10428629] Tick paralysis (disorder) EXACT [SNOMEDCT_2005_07_31:74225001] DOID:11286 neuromuscular junction toxic disorder Toxic myoneural junction disorder EXACT [SNOMEDCT_2005_07_31:17940001] DOID:11287 conditions involving the integument and temperature regulation of fetus and newborn DOID:11289 ventilation pneumonitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf] Humidifier lung EXACT [SNOMEDCT_2005_07_31:48347002] DOID:1129 pituitary apoplexy Pituitary apoplexy (disorder) EXACT [SNOMEDCT_2005_07_31:237701005] DOID:11294 arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. [HP:0100026, url:http\://en.wikipedia.org/wiki/Arteriovenous_malformation] Racemose hemangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:11071001] DOID:11295 retinal microaneurysm DOID:11299 vertebral artery occlusion Occlusion and stenosis of vertebral artery EXACT [] DOID:113 pneumopericardium DOID:1130 pituitary infarct Pituitary infarction (disorder) EXACT [SNOMEDCT_2005_07_31:95830009] DOID:11302 cercarial dermatitis A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. [url:http\://www.cdc.gov/parasites/swimmersitch/, url:http\://www.dpd.cdc.gov/dpdx/HTML/CercarialDermatitis.htm] Sea bather's eruption (disorder) EXACT [SNOMEDCT_2005_07_31:238534006] DOID:11307 subchronic state latent schizophrenia with acute exacerbation DOID:11308 latent schizophrenia in remission Latent schizophrenia, in remission EXACT [ICD9CM_2006:295.55] DOID:11309 chronic latent schizophrenia Latent schizophrenia, chronic state EXACT [ICD9CM_2006:295.52] DOID:11312 Mobitz type II atrioventricular block Mobitz type II atrioventricular block (disorder) EXACT [SNOMEDCT_2005_07_31:28189009] DOID:11314 Histoplasma duboisii retinitis An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1945308] Histoplasma duboisii with retinitis (disorder) EXACT [SNOMEDCT_2005_07_31:187049007] DOID:11315 African histoplasmosis A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. [url:http\://www.cdc.gov/eid/content/13/11/1647.htm] DOID:11316 histoplasmosis retinitis Histoplasmosis with retinitis EXACT [SNOMEDCT_2005_07_31:187058000] DOID:11320 Kyasanur forest disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm] DOID:11327 acute schizophrenic episode subchronic state with acute exacerbation DOID:11328 schizophreniform disorder A psychotic disorder that involves schizophrenia symptoms over time period of one month. [url:http\://en.wikipedia.org/wiki/Schizophreniform_disorder] DOID:11329 ainhum A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. [url:http\://en.wikipedia.org/wiki/Ainhum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum] Dactylolysis spontanea EXACT [MTHICD9_2006:136.0] DOID:11330 erysipelas Erysipelas (disorder) EXACT [SNOMEDCT_2005_07_31:266005008] DOID:11335 sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. [url:http\://en.wikipedia.org/wiki/Sarcoidosis, url:http\://ghr.nlm.nih.gov/glossary=sarcoidosis, url:http\://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956] lymphogranulomatosis EXACT [CSP2005:2024-3715] DOID:11336 rhinoscleroma A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. [url:http\://en.wikipedia.org/wiki/Rhinoscleroma, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma] Rhinoscleroma (disorder) EXACT [SNOMEDCT_2005_07_31:72409005] DOID:11337 Lemierre's syndrome A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. [url:http\://en.wikipedia.org/wiki/Fusobacterium_necrophorum, url:http\://www.bsac.org.uk/pyxis/head_and_Neck_Infections/Necrobacillosis/NecrobacillosisF.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis] postanginal sepsis EXACT [] DOID:11338 tetanus A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. [url:http\://emedicine.medscape.com/article/786414-overview#a0104, url:http\://en.wikipedia.org/wiki/Tetanus] Tetanus (disorder) EXACT [SNOMEDCT_2005_07_31:76902006] DOID:11339 pneumocystosis An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia] pulmonary pneumocystosis (disorder) EXACT [SNOMEDCT_2005_07_31:57541005] DOID:1134 gingival recession severe gingival recession EXACT [] DOID:11340 Pneumocystis infectious disease An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. [url:http\://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm] Infection by Pneumocystis carinii (disorder) EXACT [SNOMEDCT_2005_07_31:111918002] DOID:11341 fungal lung infectious disease A lung disease that is a mycosis caused by fungal growth in the lungs. [url:http\://en.wikipedia.org/wiki/Fungal_infection] DOID:11342 arcus senilis corneal arcus EXACT [] DOID:11343 scleral disease DOID:11346 congenital osteodystrophy DOID:11347 Meniere's disease in remission Mnire's disease in remission EXACT [SNOMEDCT_2005_07_31:194351009] DOID:11349 epilepsia partialis continua DOID:11350 grand mal status epilepticus Grand mal status, epileptic EXACT [ICD9CM_2006:345.3] DOID:11352 epilepsia partialis continua with intractable epilepsy DOID:11353 bladder diverticulum Diverticulum of bladder EXACT [SNOMEDCT_2005_07_31:155888001] DOID:11354 stone in bladder diverticulum calculus in diverticulum of bladder EXACT [ICD9CM_2006:594.0] DOID:11355 bladder calculus DOID:11360 Phlebotomus fever A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. [url:http\://en.wikipedia.org/wiki/Pappataci_fever, url:http\://www.bjbms.org/archives/2009-1/current%20issue6.pdf] Sandfly-borne phleboviral disease EXACT [SNOMEDCT_2005_07_31:407476002] DOID:11361 tickborne fever Tick-borne fever NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186608000] DOID:11364 lens subluxation Subluxation of lens EXACT [ICD9CM_2006:379.32] DOID:11367 congenital aphakia Congenital absence of lens EXACT [] DOID:11371 functional diarrhea Functional diarrhea (disorder) EXACT [SNOMEDCT_2005_07_31:47812002] DOID:11372 megacolon A colonic disease that is characterized by an abnormal dilation of the colon. [url:http\://en.wikipedia.org/wiki/Megacolon] Megacolon, other than Hirschsprung's EXACT [ICD9CM_2006:564.7] DOID:11374 anal spasm anal spasm NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197137007] DOID:11377 calculus of gallbladder and bile duct with acute cholecystitis calculus of gallbladder and bile duct with acute cholecystitis, with obstruction EXACT [] DOID:11379 gnathomiasis A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm] Infectious Disease by Gnathostoma (disorder) EXACT [SNOMEDCT_2005_07_31:44086001] DOID:1138 spinal meningioma Spinal meningioma (disorder) EXACT [SNOMEDCT_2005_07_31:189167009] DOID:11382 corneal neovascularization DOID:11383 cryptorchidism Undescended testis EXACT [ICD9CM_2006:752.51] DOID:11385 expressive language disorder A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. [url:http\://en.wikipedia.org/wiki/Expressive_language_disorder] Developmental expressive language disorder EXACT [SNOMEDCT_2005_07_31:268734000] DOID:11387 epidural abscess Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001416.htm] Epidural abscess (disorder) EXACT [SNOMEDCT_2005_07_31:61974008] DOID:11389 subdural empyema Subdural abscess (disorder) EXACT [SNOMEDCT_2005_07_31:37660004] DOID:11390 cerebral arteritis Cerebral arteritis (disorder) EXACT [SNOMEDCT_2005_07_31:28366008] DOID:11394 adult respiratory distress syndrome A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome] Shock lung EXACT [MTHICD9_2006:518.5] DOID:11396 pulmonary edema DOID:114 heart disease A cardiovascular system disease that involves the heart. [url:http\://en.wikipedia.org/wiki/Heart_disease] DOID:1140 spinal canal and spinal cord meningioma DOID:11400 pyelonephritis DOID:11401 xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis (disorder) EXACT [SNOMEDCT_2005_07_31:38898003] DOID:11403 depressive state induced by drug Drug-induced mood disorder EXACT [ICD9CM_2006:292.84] DOID:11404 diphtheritic laryngotracheitis A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf, url:http\://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf] laryngeal diphtheria (disorder) EXACT [SNOMEDCT_2005_07_31:50215002] DOID:11405 diphtheria A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. [url:http\://en.wikipedia.org/wiki/Diphtheria] corynebacterium infection EXACT [] DOID:11406 choroiditis DOID:11409 syphilitic disseminated chorioretinitis Syphilitic disseminated retinochoroiditis (disorder) EXACT [SNOMEDCT_2005_07_31:77939001] DOID:1141 alternating exotropia with V pattern Alternating exotropia with V pattern (disorder) EXACT [SNOMEDCT_2005_07_31:57805002] DOID:11418 Trichomonas urethritis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] Trichomonal urethritis (disorder) EXACT [SNOMEDCT_2005_07_31:30116001] DOID:1142 alternating exotropia DOID:11421 acquired cavovarus foot deformity Cavovarus deformity of foot, acquired EXACT [ICD9CM_2006:736.75] DOID:11424 fallopian tube endometriosis Endometriosis of fallopian tube EXACT [ICD9CM_2006:617.2] DOID:11427 endosalpingiosis DOID:11428 endometriosis of intestine DOID:11429 endometriosis of pelvic peritoneum DOID:1143 exotropia Divergent Strabismus EXACT [NCI2004_11_17:C34601] DOID:11430 endometriosis in scar of skin DOID:11431 endometriosis of rectovaginal septum and vagina DOID:11432 endometriosis of ovary ovarian endometriosis EXACT [] DOID:11436 recurrent cholesteatoma post-mastoidectomy recurrent cholesteatoma of postmastoidectomy cavity (disorder) EXACT [SNOMEDCT_2005_07_31:55417009] DOID:11441 macrodactylia of toes Macrodactylia of toes (disorder) EXACT [SNOMEDCT_2005_07_31:4136000] DOID:11442 malignant mast cell tumors involving lymph node of head Mast cell malignancy of lymph nodes of head, face and neck (disorder) EXACT [SNOMEDCT_2005_07_31:188662007] DOID:11446 sciatic neuropathy DOID:11450 allergic cutaneous vasculitis A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. [sn:IEDB] Autoimmune Hypersensitivity angiitis EXACT [] DOID:11451 secondary syphilitic meningitis secondary acute syphilitic meningitis EXACT [] DOID:11452 perinatal jaundice due to hepatocellular damage Perinatal jaundice due to hepatocellular damage NOS (disorder) EXACT [SNOMEDCT_2005_07_31:206467002] DOID:11457 brain compression Compression of brain NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193053006] DOID:11459 pseudotumor cerebri Pseudotumor cerebri EXACT [MTHICD9_2006:348.2] DOID:11465 autonomic nervous system disease autonomic nervous system disorder EXACT [] DOID:11472 subglottis cancer malignant tumor of subglottis (disorder) EXACT [SNOMEDCT_2005_07_31:363430007] DOID:11476 osteoporosis A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. [url:http\://en.wikipedia.org/wiki/Osteoporosis, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00232, url:http\://www.emedicinehealth.com/osteoporosis/article_em.htm, url:http\://www.mayoclinic.com/health/osteoporosis/DS00128, url:http\://www.medicinenet.com/osteoporosis/article.htm, url:http\://www.niams.nih.gov/Health_Info/Bone/default.asp, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000360.htm, url:http\://www.nof.org/] DOID:1148 polydactyly Supernumerary digit RELATED [SNOMEDCT_2005_07_31:205119005] DOID:11481 constrictive pericarditis Constrictive pericarditis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194969008] DOID:11482 hemopericardium A pericardial effusion that results from blood in the pericardial sac. [url:http\://en.wikipedia.org/wiki/Hemopericardium] Haemopericardium EXACT [SNOMEDCT_2005_07_31:155339006] DOID:11486 Horner's syndrome Horner syndrome EXACT [] DOID:11488 idiopathic peripheral autonomic neuropathy Idiopathic peripheral autonomic neuropathy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:192916006] DOID:11489 vitamin A deficiency with conjunctival xerosis and Bitot's spot vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:190610009] DOID:11490 vitamin A deficiency with night blindness vitamin A deficiency with night blindness (disorder) EXACT [SNOMEDCT_2005_07_31:15509004] DOID:11491 acquired night blindness acquired night blindness (disorder) EXACT [SNOMEDCT_2005_07_31:53808001] DOID:115 cardiac tamponade A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. [url:http\://en.wikipedia.org/wiki/Cardiac_tamponade, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000194.htm] Rose's tamponade EXACT [CSP2005:1393-3373] DOID:1150 bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery EXACT [ICD9CM_2006:648.71] DOID:11502 mitral valve insufficiency Mitral valve incompetence EXACT [SNOMEDCT_2005_07_31:194977007] DOID:11503 diabetic autonomic neuropathy Diabetic autonomic neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:50620007] DOID:11504 autonomic neuropathy DOID:11506 suppurative otitis media A otitis media which involves inflammation of the middle ear with infected effusion containing pus. [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false] Purulent otitis media EXACT [MTHICD9_2006:382.4] DOID:11507 rumination disorder An eating disorder that is characterized by effortless regurgitation of most meals following consumption. [url:http\://en.wikipedia.org/wiki/Rumination_syndrome] Psychogenic rumination (disorder) EXACT [SNOMEDCT_2005_07_31:192014006] DOID:11512 hepatic vein thrombosis Budd-Chiari syndrome EXACT [ICD9CM_2006:453.0] DOID:11514 fissured tongue Tongue, Fissured EXACT [] DOID:11516 hypertensive heart disease A heart disease that is caused by high blood pressure. [url:http\://en.wikipedia.org/wiki/Heart_disease, url:http\://en.wikipedia.org/wiki/Hypertensive_heart_disease] DOID:11518 abnormal pupillary function DOID:11520 benign hypertensive renal disease hypertensive renal disease, benign, without mention of renal failure EXACT [ICD9CM_2006:403.10] DOID:11523 Clostridium perfringens gastroenteritis A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm, url:http\://www.merck.com/mmpe/sec14/ch178/ch178g.html] Food poisoning due to Clostridium perfringens [C. welchii] EXACT [ICD9CM_2006:005.2] DOID:11524 Hyphema of iris and ciliary body DOID:11525 Iris and ciliary body vascular disorder vascular disorder of iris and ciliary body EXACT [ICD9CM_2006:364.4] DOID:11527 laryngostenosis Stenosis of larynx EXACT [SNOMEDCT_2005_07_31:195864007] DOID:11535 dysplasia of prostate DOID:11541 recurrent corneal erosion recurrent erosion syndrome EXACT [SNOMEDCT_2005_07_31:2055003] DOID:11543 corneal abscess DOID:11547 corneal deposit Deposits - cornea EXACT [SNOMEDCT_2005_07_31:193803001] DOID:11549 Adie syndrome A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. [url:http\://en.wikipedia.org/wiki/Adie_syndrome, url:http\://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome] Holmes-Adie syndrome EXACT [NCI2004_11_17:C34357] DOID:11550 oculomotor nerve paralysis Third cranial nerve paralysis, NOS EXACT [SNOMEDCT_2005_07_31:30764004] DOID:11552 Bowman's membrane folds or rupture Bowman membrane folds or rupture EXACT [] DOID:11554 Chandler syndrome Posterior membrane corneal dystrophy EXACT [SNOMEDCT_2005_07_31:231935005] DOID:11555 Fuchs' endothelial dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. [url:http\://en.wikipedia.org/wiki/Fuchs%27_dystrophy, url:http\://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy, url:http\://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1, url:http\://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956] Fuchs' endothelial corneal dystrophy EXACT [SNOMEDCT_2005_07_31:193839007] DOID:11557 acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] acute non-suppurative otitis media - serous EXACT [SNOMEDCT_2005_07_31:194240006] DOID:11558 acute allergic serous otitis media A acute serous otitis media caused by an allergen. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306] DOID:1156 chondrocalcinosis An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. [url:http\://en.wikipedia.org/wiki/Chondrocalcinosis, url:http\://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx, url:http\://www.mayoclinic.com/health/pseudogout/DS00717, url:http\://www.merckmanuals.com/professional/sec04/ch035/ch035c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000421.htm, url:http\://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp] pseudogout EXACT [] DOID:11561 hypertensive retinopathy DOID:11563 retinal vasculitis Retinal vasculitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193367006] DOID:11569 neurocirculatory asthenia A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. [url:http\://en.wikipedia.org/wiki/Da_Costa%27s_syndrome, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/] Krishaber's disease EXACT [SNOMEDCT_2005_07_31:72994002] DOID:11572 Listeria meningitis DOID:11573 listeriosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. [url:http\://emedicine.medscape.com/article/965841-overview#a0104, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001380.htm] Listeriosis, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187320005] DOID:11574 streptococcal meningitis Streptococcal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:4510004] DOID:11575 pneumococcal meningitis Pneumococcal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:51169003] DOID:11577 Cauda equina syndrome A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. [url:http\://en.wikipedia.org/wiki/Cauda_equina_syndrome] DOID:11578 Escherichia coli meningitis Meningitis due to E. coli EXACT [MTHICD9_2006:320.82] DOID:11581 phlyctenulosis Strumous ophthalmia EXACT [SNOMEDCT_2005_07_31:67895005] DOID:11582 syphilitic aortitis Syphilitic aortitis (disorder) EXACT [SNOMEDCT_2005_07_31:20735004] DOID:11584 acute schizophrenic episode in remission DOID:11589 Riley-Day syndrome HSAN III EXACT [SNOMEDCT_2005_07_31:29159009] DOID:1159 functional gastric disease DOID:11593 bladder lateral wall cancer malignant neoplasm of lateral wall of urinary bladder (disorder) EXACT [SNOMEDCT_2005_07_31:188241004] DOID:11594 ring staphyloma DOID:11595 scleral staphyloma Scleral ectasia EXACT [ICD9CM_2006:379.11] DOID:11597 cold injury syndrome of newborn Cold injury syndrome of newborn (disorder) EXACT [SNOMEDCT_2005_07_31:26746005] DOID:11599 Frey Syndrome Gustatory sweating (finding) EXACT [SNOMEDCT_2005_07_31:56046002] DOID:116 pericardium cancer Pericardial tumor EXACT [NCI2004_11_17:C4651] DOID:11600 secondary malignant neoplasm of lymph nodes of multiple site secondary malignant neoplasm of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:94396003] DOID:11603 infant gynecomastia Neonatal gynaecomastia EXACT [SNOMEDCT_2005_07_31:157159001] DOID:11604 idiopathic hydrops fetalis Perinatal skin prob. NOS EXACT [SNOMEDCT_2005_07_31:157160006] DOID:11606 ileal disease DOID:11607 candidal meningitis A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf] Candidal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:45021001] DOID:11608 fungal meningitis Fungal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:24321005] DOID:11612 polycystic ovary syndrome A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. [PMID:20591140, url:http\://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome, url:https\://en.wikipedia.org/wiki/Polycystic_ovary_syndrome] Stein-Leventhal syndrome EXACT [NCI2004_11_17:C26862] DOID:11613 hyperandrogenism hyperandrogenization syndrome EXACT [SNOMEDCT_2005_07_31:237793004] DOID:11615 penile cancer penile neoplasm EXACT [] DOID:11623 dental pulp necrosis pulp necrosis EXACT [SNOMEDCT_2005_07_31:196332000] DOID:11624 penile neoplasm Penile tumor EXACT [NCI2004_11_17:C3317] DOID:11629 pelvic muscle wasting DOID:11633 thyroid hormone resistance syndrome Thyroid hormone responsiveness defect (disorder) EXACT [SNOMEDCT_2005_07_31:50375007] DOID:11634 myxedema myxoedema EXACT [CSP2005:2928-6930] DOID:11637 accommodative spasm Spasm of accommodation EXACT [ICD9CM_2006:367.53] DOID:11638 presbyopia DOID:11649 transitory tachypnea of newborn Transitory tachypnea of newborn (disorder) EXACT [SNOMEDCT_2005_07_31:7550008] DOID:11650 bronchopulmonary dysplasia Perinatal bronchopulmonary dysplasia EXACT [MTHICD9_2006:770.7] DOID:11653 conjunctival deposit DOID:11654 nevus of ota primary acquired melanosis of conjunctiva (disorder) EXACT [SNOMEDCT_2005_07_31:415173007] DOID:11656 cicatricial pemphigoid A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. [url:http\://en.wikipedia.org/wiki/Cicatricial_pemphigoid, url:http\://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html] ocular pemphigus EXACT [] DOID:1166 palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. [url:http\://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, url:http\://en.wikipedia.org/wiki/Palindromic_rheumatism, url:http\://www.palindromicrheumatism.org/] Hench-Rosenberg syndrome EXACT [] DOID:11661 blue color blindness A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. [url:http\://www.ncbi.nlm.nih.gov/pubmed/2788922, url:http\://www.omim.org/entry/190900, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629] Tritanopia EXACT [MTHICD9_2006:368.53] DOID:11662 color vision defect DOID:11664 nephrosclerosis renal sclerosis EXACT [CSP2005:4003-0020] DOID:11665 Patau syndrome trisomy 13 EXACT [] DOID:11668 hypopigmentation of eyelid DOID:11669 hypertrichosis of eyelid DOID:11671 hypotrichosis of eyelid DOID:11678 onchocerciasis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] volvulosis EXACT [CSP2005:2214-3590] DOID:1168 familial hyperlipidemia hyperlipidaemia RELATED [SNOMEDCT_2005_07_31:154739000] DOID:11680 ocular onchocerciasis A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. [url:http\://en.wikipedia.org/wiki/Onchocerciasis] river blindness EXACT [CSP2005:2214-3590] DOID:11683 glaucoma associated with systemic syndromes Glaucoma associated with systemic syndromes (disorder) EXACT [SNOMEDCT_2005_07_31:53667005] DOID:11684 melanoacanthoma Melanoacanthoma (disorder) EXACT [SNOMEDCT_2005_07_31:394727000] DOID:11685 inflamed seborrheic keratosis DOID:11693 acute apical periodontitis acute apical periodontitis of pulpal origin (disorder) EXACT [SNOMEDCT_2005_07_31:88071000] DOID:11695 portal vein thrombosis A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. [url:http\://en.wikipedia.org/wiki/Portal_vein_thrombosis] DOID:11696 chronic hypomanic disorder chronic hypomanic personality disorder EXACT [ICD9CM_2006:301.11] DOID:11699 intrathoracic lymph node tuberculosis A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. [url:http\://ep.bmjjournals.com/cgi/reprint/91/1/ep1] Tuberculosis of intrathoracic lymph nodes, unspecified examination EXACT [ICD9CM_2006:012.10] DOID:117 heart cancer A cardiovascular cancer located_in the heart. [url:http\://en.wikipedia.org/wiki/Heart_cancer] Tumour of heart EXACT [SNOMEDCT_2005_07_31:126730001] DOID:11701 selective IgA deficiency disease A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. [url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency] Selective immunoglobulin A deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:190979003] DOID:11702 dysgammaglobulinemia A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia] Dysgammaglobulinemia (finding) EXACT [SNOMEDCT_2005_07_31:127389001] DOID:11705 impaired renal function disease DOID:1171 hyperlipoproteinemia type V Fredrickson type V lipaemia EXACT [SNOMEDCT_2005_07_31:190781009] DOID:11711 Pregnancy in Diabetics pregnancy diabetes EXACT [CSP2005:0862-6650] DOID:11712 lipoatrophic diabetes A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes. [url:http\://en.wikipedia.org/wiki/Lipoatrophic_diabetes] DOID:11713 diabetic angiopathy Diabetic vascular disorder EXACT [NCI2004_11_17:C35610] DOID:11714 gestational diabetes Maternal gestational diabetes mellitus EXACT [SNOMEDCT_2005_07_31:11687002] DOID:11716 prediabetes syndrome prediabetic state EXACT [CSP2005:0862-7400] DOID:11717 neonatal diabetes mellitus diabetes mellitus syndrome in newborn infant EXACT [] DOID:11718 antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. [url:http\://en.wikipedia.org/wiki/Antidepressant] DOID:11719 oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (disorder) EXACT [SNOMEDCT_2005_07_31:77097004] DOID:1172 hyperlipoproteinemia type IV VLDL hyperlipoproteinemia EXACT [MTHICD9_2006:272.1] DOID:11720 distal muscular dystrophy Miyoshi muscular dystrophy EXACT [] DOID:11721 glycogen storage disease VII phosphofructokinase myopathy EXACT [CSP2005:1849-4121] DOID:11722 myotonic dystrophy type 1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/160900, url:http\://www.genome.gov/25521207, url:http\://www.ncbi.nlm.nih.gov/books/NBK1165/] Steinert disease EXACT [] DOID:11723 Duchenne muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. [url:http\://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, url:http\://omim.org/entry/300377, url:http\://www.genome.gov/19518854] Muscular dystrophy, Duchenne EXACT [MTHICD9_2006:359.1] DOID:11724 limb-girdle muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. [url:http\://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1408/] limb girdle muscular dystrophy EXACT [CSP2005:1849-6662] DOID:11725 Cornelia de Lange syndrome A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. [url:http\://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome, url:http\://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, url:http\://www.omim.org/entry/122470, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract] De Lange syndrome EXACT [] DOID:11726 Emery-Dreifuss muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. [url:http\://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy] EDMD EXACT [] DOID:11727 facioscapulohumeral muscular dystrophy Muscular dystrophy, Landouzy-Dejerine EXACT [MTHICD9_2006:359.1] DOID:11729 Lyme disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. [url:http\://www.cdc.gov/lyme/transmission/index.html] Neurological Lyme disease EXACT [SNOMEDCT_2005_07_31:240672009] DOID:1173 polycystic liver disease Fibrocystic liver disease EXACT [SNOMEDCT_2005_07_31:204785006] DOID:11730 Borrelia infectious disease Borreliosis, NOS EXACT [SNOMEDCT_2005_07_31:46107006] DOID:11732 syphilitic myocarditis Syphilitic myocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:4082005] DOID:11733 syphilitic aortic aneurysm Syphilitic aneurysm of aorta (disorder) EXACT [SNOMEDCT_2005_07_31:12232008] DOID:11734 syphilitic pericarditis Syphilitic pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:3589003] DOID:11735 single manic episode in full remission Single manic episode in full remission (disorder) EXACT [SNOMEDCT_2005_07_31:191588009] DOID:11736 odontoclasia Odontoclasia (disorder) EXACT [SNOMEDCT_2005_07_31:196305005] DOID:11741 Chlamydophila pneumoniae pneumonia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm, url:http\://www.merck.com/mmpe/sec19/ch279/ch279l.html] Pneumonia due to Chlamydia EXACT [ICD9CM_2006:483.1] DOID:11746 parametrium malignant neoplasm DOID:11747 uterine adnexa cancer DOID:11748 round ligament malignant neoplasm malignant neoplasm of round ligament of uterus EXACT [ICD9CM_2006:183.5] DOID:11750 Bordetella parapertussis whooping cough A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . [url:http\://en.wikipedia.org/wiki/Pertussis] DOID:11752 acute endophthalmitis DOID:11753 biliary calculus with acute cholecystitis DOID:11754 siderosis of eye Siderosis of globe EXACT [ICD9CM_2006:360.23] DOID:11755 choledocholithiasis DOID:11756 calculus of bile duct with acute cholecystitis calculus of bile duct with acute cholecystitis, with obstruction EXACT [ICD9CM_2006:574.31] DOID:11758 iron deficiency anemia DOID:11759 hypochromic anemia ANEMIA HYPOCHROMIC EXACT [MTH:NOCODE] DOID:1176 bronchial disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. [url:http\://www.ncbi.nlm.nih.gov/pubmed/11685087] Bronchospasm EXACT [NCI2004_11_17:C34439, SNOMEDCT_2005_07_31:140179000, SNOMEDCT_2005_07_31:196175000, SNOMEDCT_2005_07_31:269012003] DOID:11760 Kohler's disease An osteochondrosis that results_in death and collapse located_in navicular bone of foot. [url:http\://en.wikipedia.org/wiki/K%C3%B6hler_disease, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/k/kohlers_disease.aspx] Kohler disease EXACT [] DOID:11766 blind hypotensive eye DOID:11770 hypersecretion of testicular hormones testicular hyperfunction (disorder) EXACT [SNOMEDCT_2005_07_31:29206004] DOID:11771 spontaneous ocular nystagmus visual deprivation nystagmus (disorder) EXACT [SNOMEDCT_2005_07_31:45339001] DOID:11772 leukocoria Leucocoria EXACT [ICD9CM_2006:360.44] DOID:11775 hereditary trophedema Hereditary trophoedeme EXACT [SNOMEDCT_2005_07_31:75127007] DOID:11776 blind hypertensive eye DOID:11781 regular astigmatism DOID:11782 astigmatism A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. [url:http\://en.wikipedia.org/wiki/Astigmatism_%28eye%29] DOID:11783 necrosis of ear ossicle partial loss or necrosis of ear ossicles EXACT [] DOID:11786 splenic sequestration DOID:11787 chronic congestive splenomegaly chronic congestive splenomegaly (disorder) EXACT [SNOMEDCT_2005_07_31:191382009] DOID:11793 phthisical cornea DOID:11797 chronic laryngitis A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. [url:http\://en.wikipedia.org/wiki/Laryngitis, url:http\://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263] DOID:118 pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. [url:http\://en.wikipedia.org/wiki/Pericardial_effusion] DOID:11801 protein-energy malnutrition DOID:11802 protein deficiency protein deficiency EXACT [CSP2005:2116-8149] DOID:11806 macrodactylia of fingers Macrodactylia of fingers (disorder) EXACT [SNOMEDCT_2005_07_31:69381005] DOID:11809 bladder neck cancer malignant tumor of bladder neck (disorder) EXACT [SNOMEDCT_2005_07_31:188244007] DOID:11810 metastatic neoplasm to the bladder secondary malignant neoplasm of bladder (disorder) EXACT [SNOMEDCT_2005_07_31:94186002] DOID:11811 urinary bladder posterior wall cancer malignant neoplasm of posterior wall of urinary bladder (disorder) EXACT [SNOMEDCT_2005_07_31:188243001] DOID:11812 bladder sarcoma A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. [url:http\://emedicine.medscape.com/article/438262-overview] sarcoma of the urinary bladder EXACT [NCI2004_11_17:C4669] DOID:11813 bladder trigone cancer malignant tumor of trigone of urinary bladder (disorder) EXACT [SNOMEDCT_2005_07_31:188239000] DOID:11814 urinary bladder anterior wall cancer malignant neoplasm of anterior wall of urinary bladder (disorder) EXACT [SNOMEDCT_2005_07_31:188242006] DOID:11815 recurrent malignant bladder neoplasm DOID:11816 vitreous syneresis Vitreous degeneration EXACT [ICD9CM_2006:379.21] DOID:11817 urachus cancer malignant tumor of urachus (disorder) EXACT [SNOMEDCT_2005_07_31:363456000] DOID:11818 ureteric orifice cancer Orifice of the Ureter EXACT [NCI2004_11_17:C12337] DOID:11819 ureter cancer A urinary system cancer that is located_in the ureter. [url:http\://en.wikipedia.org/wiki/Ureter_cancer] malignant ureteral tumor EXACT [NCI2004_11_17:C7543] DOID:11820 bladder dome cancer Superior Surface of bladder EXACT [NCI2004_11_17:C12332] DOID:11821 bladder lymphoma Lymphoma of the urinary bladder EXACT [NCI2004_11_17:C6164] DOID:11823 hepatorenal syndrome DOID:11824 multicentric reticulohistiocytosis A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. [url:http\://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis, url:http\://www.ncbi.nlm.nih.gov/pubmed/23130232] Multicentric reticulohistiocytosis EXACT [SNOMEDCT_2005_07_31:190801003] DOID:11828 visual cortex disorder due to vascular disorder DOID:11829 degenerative myopia progressive high myopia EXACT [MTHICD9_2006:360.21] DOID:1183 nephrotic syndrome with lesion of membranoproliferative glomerulonephritis Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis EXACT [ICD9CM_2006:581.2] DOID:11830 myopia A refractive error characterized by the inability to see farther objects clearly. [url:http\://en.wikipedia.org/wiki/Myopia, url:http\://ghr.nlm.nih.gov/glossary=myopia, url:http\://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548] short-sightedness EXACT [] DOID:11831 cortical blindness DOID:11832 visual epilepsy epilepsy, visual EXACT [MTHICD9_2006:345.5] DOID:11836 clubfoot A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. [PMID:17610748, url:http\://en.wikipedia.org/wiki/Club_foot] Equinovarus deformity of foot (finding) EXACT [SNOMEDCT_2005_07_31:249808002] DOID:11837 malignant neoplasm of scapula and long bones of upper limb DOID:11838 penis sarcoma A sarcoma and malignant neoplasm of penis that is located_in the penis. [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20penis&c=pc&ss=] sarcoma of penis EXACT [NCI2004_11_17:C7730] DOID:11839 glans penis cancer malignant tumour of glans penis EXACT [SNOMEDCT_2005_07_31:93813005] DOID:1184 nephrotic syndrome finnish congenital nephrosis EXACT [] DOID:11840 coronary artery vasospasm Coronary Vasospasm EXACT [NCI2004_11_17:C34515] DOID:11843 coronary artery anomaly Coronary artery anomaly, congenital EXACT [ICD9CM_2006:746.85] DOID:11847 coronary thrombosis Coronary artery thrombosis (disorder) EXACT [SNOMEDCT_2005_07_31:66514008] DOID:11849 degenerative changes of ciliary body degenerative changes of ciliary body (disorder) EXACT [SNOMEDCT_2005_07_31:40153005] DOID:11850 transient refractive change DOID:11851 indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217] Uncharacteristic leprosy EXACT [MTHICD9_2006:030.2] DOID:11852 aortic valve syphilitic endocarditis Syphilitic endocarditis of aortic valve (disorder) EXACT [SNOMEDCT_2005_07_31:278480000] DOID:11853 monocular exotropia DOID:11854 monocular exotropia with A pattern Monocular exotropia with A pattern (disorder) EXACT [SNOMEDCT_2005_07_31:45062007] DOID:11855 intermittent monocular exotropia Monocular intermittent exotropia (disorder) EXACT [SNOMEDCT_2005_07_31:67028000] DOID:11856 monocular exotropia with V pattern Monocular exotropia with V pattern (disorder) EXACT [SNOMEDCT_2005_07_31:111529008] DOID:11861 prolonged pregnancy DOID:11862 late pregnancy DOID:11864 peripheral focal chorioretinitis DOID:11868 chronic erythremia DOID:1187 tibial neuropathy Tibial neuropathy (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:35062009] DOID:11870 Pick's disease PICK DISEASE OF BRAIN EXACT [] DOID:11871 macular keratitis DOID:11872 Staphylococcus aureus septicemia Septicemia due to Staphylococcus aureus (disorder) EXACT [SNOMEDCT_2005_07_31:186385009] DOID:11873 staphylococcal septicemia DOID:11874 abnormal threshold of rods abnormal dark adaptation curve EXACT [ICD9CM_2006:368.63] DOID:11875 denture stomatitis Denture stomatitis [Ambiguous] EXACT [SNOMEDCT_2005_07_31:196576008] DOID:1188 mononeuropathy Mononeuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:128189008] DOID:11885 ureteral benign neoplasm ureteral tumor EXACT [NCI2004_11_17:C3427] DOID:11887 ureter leiomyoma ureteral leiomyoma EXACT [NCI2004_11_17:C6161] DOID:11888 Schwannoma of ureter ureteral Schwannoma EXACT [NCI2004_11_17:C6162] DOID:11889 female breast nipple and areola cancer malignant neoplasm of nipple or areola of female breast NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188150007] DOID:11892 Amoebozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. [url:http\://en.wikipedia.org/wiki/Amoebozoa] sarcodina RELATED [] DOID:11893 cutaneous amebiasis An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16780468] Amoebic skin ulceration EXACT [SNOMEDCT_2005_07_31:54065007] DOID:11896 Acanthamoeba keratitis A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. [url:http\://www.cdc.gov/acanthamoeba/disease.html] Acanthamoeba keratitis (disorder) EXACT [SNOMEDCT_2005_07_31:231896005] DOID:11897 Blastocystis hominis infectious disease A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Blastocystis.htm] DOID:119 vaginal cancer A female reproductive system cancer that is located_in the vagina. [url:http\://www.cancer.gov/dictionary?CdrID=523460] vaginal tumor EXACT [NCI2004_11_17:C3437] DOID:11902 cerebral amebiasis An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. [url:http\://emedicine.medscape.com/article/996092-overview, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8126521] Amebic brain abscess (disorder) EXACT [SNOMEDCT_2005_07_31:27908001] DOID:11905 labium majus cancer malignant tumor of Labia Majora EXACT [NCI2004_11_17:C7638] DOID:11907 ecthyma Ecthyma (disorder) EXACT [SNOMEDCT_2005_07_31:85791004] DOID:11914 gastroparesis Gastroparesis syndrome (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:77164002] DOID:11917 tinea cruris A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. [url:http\://en.wikipedia.org/wiki/Tinea_cruris] Dermatophytosis of groin and perianal area NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186992007] DOID:1192 peripheral nervous system neoplasm A nervous system cancer that is located_in the peripheral nervous system. [url:http\://en.wikipedia.org/wiki/Peripheral_nervous_system] tumor of PNS EXACT [NCI2004_11_17:C3321] DOID:11920 tracheal cancer A respiratory system cancer that is located_in the trachea. [url:http\://en.wikipedia.org/wiki/Lung_cancer] tracheal neoplasm EXACT [] DOID:11934 head and neck cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. [url:http\://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=257519, url:http\://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb9/index.php] tumor of head and neck (disorder) EXACT [SNOMEDCT_2005_07_31:255055008] DOID:11939 schizo-affective type schizophrenia subchronic state DOID:11943 Trichomonas vaginitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] vaginal trichomoniasis (disorder) EXACT [SNOMEDCT_2005_07_31:500000] DOID:11944 Trichomonas prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] Trichomonal prostatitis (disorder) EXACT [SNOMEDCT_2005_07_31:71590000] DOID:11945 Trichomonas cystitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. [url:http\://www.merck.com/mmpe/sec14/ch194/ch194j.html] Trichomonal cystitis (disorder) EXACT [SNOMEDCT_2005_07_31:197850006] DOID:11946 habitual abortion recurrent miscarriage EXACT [SNOMEDCT_2005_07_31:156126009] DOID:11947 recurrent major depression in complete remission recurrent major depressive episodes, in full remission (disorder) EXACT [SNOMEDCT_2005_07_31:191615005] DOID:11949 Creutzfeldt-Jakob disease Transmissible virus dementia (disorder) EXACT [SNOMEDCT_2005_07_31:79358009] DOID:1195 ischemic neuropathy Ischemic peripheral neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:129611009] DOID:11950 Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium postpartum congenital cardiovascular disorder of mother EXACT [] DOID:11952 Congenital cardiovascular disorder of mother, with delivery DOID:11954 psychosexual dysfunction with inhibited sexual excitement Psychosexual Dysfunction with Inhibited Sexual Excitement EXACT [NCI2004_11_17:C34960] DOID:11955 malnutrition of moderate degree DOID:11963 esophagitis acute esophagitis (disorder) EXACT [SNOMEDCT_2005_07_31:409656006] DOID:11964 Histoplasma capsulatum retinitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1945308] Histoplasma capsulatum with retinitis (disorder) EXACT [SNOMEDCT_2005_07_31:187039009] DOID:11968 postmenopausal atrophic vaginitis Senile vaginitis EXACT [MTHICD9_2006:627.3] DOID:11970 symptomatic menopausal or female climacteric state DOID:11971 synostosis A dysostosis that results_in abnormal fusing of adjacent bones. [url:http\://en.wikipedia.org/wiki/Synostosis, url:http\://medical-dictionary.thefreedictionary.com/synostosis] DOID:11975 coloboma of optic nerve Coloboma of optic disc EXACT [SNOMEDCT_2005_07_31:17541006] DOID:11976 botulism A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. [url:http\://emedicine.medscape.com/article/325451-overview, url:http\://en.wikipedia.org/wiki/Botulism, url:http\://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html, url:http\://pathema.jcvi.org/pathema/botulinum_resources.shtml, url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf, url:http\://www.who.int/mediacentre/factsheets/fs270/en/] Intoxication with Clostridium botulinum toxin EXACT [SNOMEDCT_2005_07_31:414531002] DOID:11977 disorder of magnesium metabolism Magnesium disorder EXACT [SNOMEDCT_2005_07_31:267504005] DOID:11978 chronic pyelonephritis without lesion of renal medullary necrosis DOID:11981 morbid obesity Severe obesity EXACT [MTHICD9_2006:278.01] DOID:11983 Prader-Willi syndrome Prader Willi syndrome EXACT [CSP2005:1849-7731] DOID:11984 hypertrophic cardiomyopathy An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. [url:http\://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, url:http\://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy, url:http\://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/] hypertrophic obstructive cardiomyopathy EXACT [SNOMEDCT_2005_07_31:389999002] DOID:11987 anorectal gonorrhea gonococcal proctitis EXACT [] DOID:11988 conjunctival concretion DOID:11990 ulceroglandular tularemia A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. [url:http\://emedicine.medscape.com/article/230923-clinical, url:http\://www.cdc.gov/tularemia/signssymptoms/] Ulceroglandular tularemia (disorder) EXACT [SNOMEDCT_2005_07_31:37722001] DOID:11991 osteopoikilosis An osteosclerosis that results_in numerous bone islands located_in skeleton. [url:http\://en.wikipedia.org/wiki/Osteopoikilosis, url:http\://www.bonetumor.org/unknown-tumor-type-bone/osteopoikilosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteopoikilosis.aspx] DOID:11994 atrophy of testis DOID:11996 spermatic cord torsion Torsion of testis EXACT [ICD9CM_2006:608.2] DOID:11997 spermatocele DOID:120 female reproductive organ cancer A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. [url:http\://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm] malignant neoplasm of female genital organ EXACT [] DOID:12000 secondary malignant neoplasm of trachea secondary malignant neoplasm of trachea (disorder) EXACT [SNOMEDCT_2005_07_31:94641004] DOID:12001 tracheal lymphoma Lymphoma of Trachea EXACT [NCI2004_11_17:C6248] DOID:12002 trachea sarcoma A sarcoma and malignant tumor of trachea that is located_in the trachea. [url:http\://en.wikipedia.org/wiki/Lung_cancer] sarcoma of the trachea EXACT [NCI2004_11_17:C6050] DOID:12003 trachea squamous cell carcinoma Tracheal Epidermoid carcinoma EXACT [NCI2004_11_17:C4448] DOID:1201 trigeminal nerve neoplasm tumor of Trigeminal nerve EXACT [NCI2004_11_17:C5122] DOID:12010 anterior ischemic optic neuropathy Ischemic optic neuropathy EXACT [ICD9CM_2006:377.41] DOID:12016 frontal lobe neoplasm tumor of Frontal Lobe EXACT [NCI2004_11_17:C5572] DOID:12017 group B streptococcal pneumonia A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. [url:http\://en.wikipedia.org/wiki/Streptococcus#Group_B, url:http\://www.ncbi.nlm.nih.gov/pubmed/11462195] Pneumonia due to Streptococcus Group B EXACT [MTHICD9_2006:482.32] DOID:12019 group A streptococcal pneumonia A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false] pneumonia due to streptococcus group A EXACT [] DOID:12020 malignant neoplasm of corpus uteri, except isthmus malignant neoplasm of corpus uteri, excluding isthmus (disorder) EXACT [SNOMEDCT_2005_07_31:188189001] DOID:12021 leukemic reticuloendotheliosis of intrathoracic lymph nodes Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:188646001] DOID:12022 spontaneous abortion complicated by genital tract and pelvic infectious disease spontaneous abortion, unspecified, complicated by genital tract and pelvic infection EXACT [ICD9CM_2006:634.00] DOID:12028 Conn's syndrome An adrenal admenoma characterized by over production of aldosterone. [url:http\://en.wikipedia.org/wiki/Conn%27s_syndrome] primary hyperaldosteronism EXACT [NCI2004_11_17:C34510] DOID:12029 sympathetic ophthalmia Sympathetic uveitis EXACT [ICD9CM_2006:360.11] DOID:1203 drug-induced mental disorder DOID:12030 panuveitis Diffuse uveitis EXACT [SNOMEDCT_2005_07_31:75614007] DOID:1204 arthropathy due to hypersensitivity reaction Arthropathy associated with hypersensitivity reaction EXACT [ICD9CM_2006:713.6] DOID:12040 immune hydrops fetalis Hydrops fetalis due to isoimmunization [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:206432002] DOID:12043 kernicterus due to isoimmunization Kernicterus due to isoimmunization of fetus or newborn EXACT [ICD9CM_2006:773.4] DOID:1205 hypersensitivity reaction type I disease An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergy] hypersensitivity EXACT [] DOID:12052 cryptococcal meningitis A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. [url:http\://en.wikipedia.org/wiki/Cryptococcosis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] Cryptococcal meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:14232007] DOID:12053 cryptococcosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. [url:http\://en.wikipedia.org/wiki/Cryptococcosis] torulosis EXACT [CSP2005:1988-4587] DOID:12054 Trypanosoma meningitis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. [url:http\://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract] Trypanosomiasis with meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:5566009] DOID:12055 sarcoid meningitis Sarcoid meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:192673008] DOID:12056 meningitis with clear cerebrospinal fluid Nonpyogenic meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:21468000] DOID:12058 Fetal-maternal hemorrhage affecting management of mother Fetal-maternal hemorrhage, with delivery EXACT [] DOID:1206 Rett syndrome A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. [url:http\://www.nichd.nih.gov/health/topics/rett_syndrome.cfm] Rett's disorder EXACT [SNOMEDCT_2005_07_31:68618008] DOID:12061 fetal blood loss Fetal haemorrhage EXACT [SNOMEDCT_2005_07_31:157124001] DOID:12064 mediastinum neurofibroma Neurofibroma of mediastinum EXACT [NCI2004_11_17:C6631] DOID:12065 ganglioneuroma of the mediastinum Ganglioneuroma of mediastinum EXACT [NCI2004_11_17:C6632] DOID:12070 Dieulafoy lesion dieulafoy lesion (hemorrhagic) of stomach and duodenum EXACT [] DOID:12072 pylorospasm Pylorospasm (disorder) EXACT [SNOMEDCT_2005_07_31:335002] DOID:12076 interstitial emphysema and related conditions of newborn DOID:12084 transient arthropathy Transient arthropathy involving upper arm EXACT [] DOID:12087 deep corneal vascularisation Deep vascularization of cornea EXACT [ICD9CM_2006:370.63] DOID:1209 nutritional optic neuropathy Nutritional optic neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:82108004] DOID:12091 vitamin A deficiency with corneal xerosis vitamin A deficiency with corneal xerosis (disorder) EXACT [SNOMEDCT_2005_07_31:35516008] DOID:12092 Galactorrhea associated with childbirth DOID:12096 sodoku disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. [url:http\://en.wikipedia.org/wiki/Rat_bite_fever, url:http\://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf] Spirillosis RELATED [] DOID:12097 rat-bite fever Unspecified rat-bite fever EXACT [ICD9CM_2006:026.9] DOID:12098 trigeminal neuralgia Trigeminal neuralgia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193090007] DOID:121 vaginal disease DOID:1210 optic neuritis An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. [sn:IEDB] DOID:12104 vitamin A deficiency with corneal xerosis and ulcer vitamin A deficiency with corneal xerosis and ulcer (disorder) EXACT [SNOMEDCT_2005_07_31:190612001] DOID:12105 inflammatory spondylopathy Inflammatory spondylopathy in disease classified elsewhere EXACT [SNOMEDCT_2005_07_31:6963001] DOID:12106 tricuspid valve syphilitic endocarditis Syphilitic endocarditis of tricuspid valve (disorder) EXACT [SNOMEDCT_2005_07_31:186877007] DOID:12107 primary retinal cyst primary retinal cysts EXACT [ICD9CM_2006:361.13] DOID:12108 bullous retinoschisis DOID:12111 vitamin A deficiency with xerophthalmic corneal scar vitamin A deficiency with xerophthalmic scars of cornea (disorder) EXACT [SNOMEDCT_2005_07_31:4715007] DOID:12113 nerve deafness neural hearing loss (finding) EXACT [SNOMEDCT_2005_07_31:73371001] DOID:12115 streptococcal pharyngitis A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000639.htm] Streptococcal sore throat NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186361001] DOID:12117 pulmonary alveolar microlithiasis DOID:12118 pulmonary hemosiderosis A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. [url:http\://en.wikipedia.org/wiki/Brown_induration, url:http\://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis, url:http\://www.erj.ersjournals.com/cgi/content/full/24/1/162] Idiopathic pulmonary hemosiderosis EXACT [ICD9CM_2006:516.1] DOID:12119 hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. [url:http\://en.wikipedia.org/wiki/Hemosiderosis] haemosiderosis EXACT [] DOID:12120 pulmonary alveolar proteinosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. [url:http\://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis] DOID:12121 secondary syphilitic periostitis secondary syphilitic periostitis (disorder) EXACT [SNOMEDCT_2005_07_31:69595007] DOID:12123 postinflammatory pulmonary fibrosis Postinflammatory pulmonary fibrosis EXACT [SNOMEDCT_2005_07_31:57124002] DOID:12124 episcleritis periodica fugax DOID:12125 neurotrophic keratoconjunctivitis DOID:12128 pica disease An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. [url:http\://en.wikipedia.org/wiki/Pica_%28disorder%29] DOID:12129 bulimia nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. [url:http\://en.wikipedia.org/wiki/Bulimia_nervosa] hyperorexia nervosa EXACT [SNOMEDCT_2005_07_31:192447005] DOID:1213 Tympanosclerosis of tympanic membrane and ossicles Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder) EXACT [SNOMEDCT_2005_07_31:35100001] DOID:12132 Wegener's granulomatosis An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. [url:http\://en.wikipedia.org/wiki/Wegener%27s_granulomatosis] Wegener's syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:239934006] DOID:12133 Yersinia enterocolitica intestinal infectious disease A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm] Yersinia enterocolitis EXACT [SNOMEDCT_2005_07_31:186144006] DOID:12134 factor VIII deficiency An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. [sn:IEDB, url:http\://en.wikipedia.org/wiki/Hemophilia_A] Subhemophilia EXACT [MTHICD9_2006:286.0] DOID:12135 acquired factor VIII deficiency acquired factor VIII deficiency disease (disorder) EXACT [SNOMEDCT_2005_07_31:14230004] DOID:12136 acquired coagulation factor deficiency acquired coagulation factor deficiency NOS (disorder) EXACT [SNOMEDCT_2005_07_31:191300004] DOID:12139 dysthymic disorder A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. [url:http\://en.wikipedia.org/wiki/Mood_disorder] dysthymia EXACT [CSP2005:2483-6681] DOID:1214 tympanosclerosis DOID:12140 Chagas disease A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. [url:http\://en.wikipedia.org/wiki/Chagas_disease] chagas' disease with other organ involvement EXACT [] DOID:12141 adenovirus meningitis An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. [url:http\://emedicine.medscape.com/article/1168529-overview, url:http\://virology-online.com/viruses/Adenoviruses3.htm, url:http\://www.cdc.gov/meningitis/about/faq.html] non-arthropod-borne meningitis due to adenovirus RELATED [] DOID:12143 neurogenic bladder Neuropathic bladder EXACT [SNOMEDCT_2005_07_31:197883004] DOID:12144 low compliance bladder Low bladder compliance EXACT [ICD9CM_2006:596.52] DOID:12145 detrusor sphincter dyssynergia DOID:12148 alveolar echinococcosis An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] small fox tapeworm EXACT [] DOID:1215 Tympanosclerosis of tympanic membrane only Tympanosclerosis involving tympanic membrane only (disorder) EXACT [SNOMEDCT_2005_07_31:35522004] DOID:12150 calculus of gallbladder with acute cholecystitis, with obstruction gallbladder calculus with acute cholecystitis and obstruction NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197379007] DOID:12151 currently pregnant habitual aborter DOID:12155 lymphocytic choriomeningitis A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. [url:http\://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis] Lymphocytic meningoencephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:276817007] DOID:12156 arachnoiditis Other meningitis NOS EXACT [SNOMEDCT_2005_07_31:154986008] DOID:12157 aseptic meningitis Aseptic meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:301770000] DOID:12161 peripheral retinal degeneration peripheral degeneration of retina EXACT [SNOMEDCT_2005_07_31:405721006] DOID:12162 pseudoretinitis pigmentosa secondary pigmentary retinal degeneration EXACT [SNOMEDCT_2005_07_31:35545005] DOID:12163 senile reticular retinal degeneration Senile reticular degeneration of retina EXACT [ICD9CM_2006:362.64] DOID:12164 Blessig's cysts Microcystoid retinal degeneration EXACT [SNOMEDCT_2005_07_31:37075008] DOID:12165 retinal lattice degeneration Palisade degeneration of retina EXACT [ICD9CM_2006:362.63] DOID:12166 cobblestone retinal degeneration Paving stone retinal degeneration EXACT [SNOMEDCT_2005_07_31:69134001] DOID:12167 secondary vitreoretinal degeneration DOID:12168 ulnar nerve lesion Ulnar nerve lesions (disorder) EXACT [SNOMEDCT_2005_07_31:267599007] DOID:12169 carpal tunnel syndrome Median nerve entrapment (disorder) EXACT [SNOMEDCT_2005_07_31:246611002] DOID:1217 fascioloidiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. [url:http\://en.wikipedia.org/wiki/Fascioloides_magna, url:http\://www.michigan.gov/dnr/1\,1607\,7-153-10370_12150_12220-26639--\,00.html] DOID:12170 radial nerve lesion Radial nerve lesions (disorder) EXACT [SNOMEDCT_2005_07_31:193137006] DOID:12171 radial neuropathy Radial neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:16644004] DOID:12175 dyshormonogenic goiter Dyshormonogenic goiter (disorder) EXACT [SNOMEDCT_2005_07_31:190304001] DOID:12176 goiter A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. [url:http\://www.thyroid.org/patients/patient_brochures/goiter.html] goitre EXACT [] DOID:12177 common variable immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). [url:http\://emedicine.medscape.com/article/885935-overview, url:http\://en.wikipedia.org/wiki/Common_variable_immunodeficiency, url:http\://www.immunedisease.com/patients-and-families/about-pi/types-of-pi/common-variable-immunodeficiency-cvid.html, url:http\://www.merck.com/mmpe/sec13/ch164/ch164g.html] sporadic hypogammaglobulinemia EXACT [MTHICD9_2006:279.06] DOID:12179 tinea corporis A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. [url:http\://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaPedis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000877.htm] Dermatophytosis of the trunk EXACT [SNOMEDCT_2005_07_31:84849002] DOID:1218 echinostomiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm] Infection by Echinochasmus (disorder) EXACT [SNOMEDCT_2005_07_31:52918004] DOID:12180 Fetal Macrosomia fetal macrosomia EXACT [CSP2005:2403-8925] DOID:12185 otosclerosis A labyrinthine disease characterized by an abnormal bone growth in the middle ear. [url:http\://en.wikipedia.org/wiki/Otosclerosis, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh] DOID:12189 metastatic tumor to the colon DOID:1219 dicrocoeliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm] disease due to Dicrocoeliidae (disorder) EXACT [SNOMEDCT_2005_07_31:105668007] DOID:12190 descending colon cancer malignant tumor of descending colon (disorder) EXACT [SNOMEDCT_2005_07_31:363409003] DOID:12191 splenic flexure cancer malignant tumor of splenic flexure (disorder) EXACT [SNOMEDCT_2005_07_31:363413005] DOID:12192 sigmoid colon cancer malignant tumor of sigmoid colon (disorder) EXACT [SNOMEDCT_2005_07_31:363410008] DOID:12196 superficial keratitis DOID:12197 punctate epithelial keratoconjunctivitis Thygeson's superficial punctate keratitis EXACT [SNOMEDCT_2005_07_31:193767008] DOID:122 abdominal cancer A cancer by anatomical entitiy that affects the organs in the abdominal cavity. [url:http\://www.wrongdiagnosis.com/a/abdominal_cancer/intro.htm] tumor of abdomen (disorder) EXACT [SNOMEDCT_2005_07_31:255060007] DOID:12204 catatonic schizophrenia in remission Catatonic type schizophrenia, in remission EXACT [ICD9CM_2006:295.25] DOID:12205 dengue disease A viral infectious 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_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. [url:http\://www.cdc.gov/dengue/fAQFacts/index.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue] Dengue Fever EXACT [NCI2004_11_17:C34528] DOID:12206 dengue hemorrhagic fever A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf, url:http\://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm, url:http\://www.who.int/mediacentre/factsheets/fs117/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever] DHF EXACT [] DOID:1221 infiltrative lung tuberculosis A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. [url:http\://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm] DOID:12210 Wuchereria bancrofti filariasis A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. [url:http\://en.wikipedia.org/wiki/Wuchereria_bancrofti] Wuchereria bancrofti infectious disease EXACT [] DOID:12211 filarial elephantiasis A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. [url:http\://www.who.int/mediacentre/factsheets/fs102/en/] Lymphatic filariasis (disorder) EXACT [SNOMEDCT_2005_07_31:240820001] DOID:12215 oligohydramnios A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. [url:http\://www.merriam-webster.com/medlineplus/oligohydramnios] Oligohydramnios - delivered EXACT [SNOMEDCT_2005_07_31:199653002] DOID:12217 Lewy body dementia A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. [url:http\://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies, url:http\://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038] Senile dementia of the Lewy body type (disorder) EXACT [SNOMEDCT_2005_07_31:312991009] DOID:1222 cartilage disease Chondropathy (disorder) EXACT [SNOMEDCT_2005_07_31:367355001] DOID:12221 Synovial, tendon or bursa disorder Unspecified disorder of synovium, tendon, and bursa EXACT [ICD9CM_2006:727.9] DOID:12223 specific bursitis often of occupational origin Specific bursitis often of occupational origin (disorder) EXACT [SNOMEDCT_2005_07_31:42812006] DOID:12224 calcium deposits in tendon and bursa DOID:12225 Plica syndrome DOID:12226 hearing disease Hearing problem (finding) EXACT [SNOMEDCT_2005_07_31:300228004] DOID:12228 secondary malignant neoplasm of large intestine and rectum secondary malignant neoplasm of large intestine or rectum NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188444005] DOID:12234 cascade stomach Hourglass stricture or stenosis of stomach EXACT [ICD9CM_2006:537.6] DOID:12236 primary biliary cirrhosis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. [url:http\://en.wikipedia.org/wiki/Primary_biliary_cirrhosis, url:http\://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh] chronic nonsuppurative destructive cholangitis EXACT [SNOMEDCT_2005_07_31:1761006] DOID:12237 bile reflux DOID:12239 anal margin squamous cell carcinoma squamous cell carcinoma of anal margin (disorder) EXACT [SNOMEDCT_2005_07_31:255084004] DOID:12241 beta thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. [url:http\://en.wikipedia.org/wiki/Beta_thalassemia] DOID:12245 histoplasmosis endocarditis A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. [url:http\://emedicine.medscape.com/article/299054-overview] Histoplasmosis with endocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:187060003] DOID:12246 histoplasmosis meningitis Histoplasmosis with meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:187057005] DOID:12251 hypoaldosteronism hypoaldosteronism EXACT [CSP2005:0060-4670] DOID:12252 Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. [URL:http\://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome] Suprarenogenic syndrome EXACT [SNOMEDCT_2005_07_31:47270006] DOID:12253 testicular lymphoma testicular Lymphoma EXACT [NCI2004_11_17:C6810] DOID:12254 metastatic tumor to the testis secondary malignant neoplasm of testis (disorder) EXACT [SNOMEDCT_2005_07_31:94623007] DOID:12255 congenital adrenal hyperplasia Congenital adrenal hyperplasia, NOS EXACT [SNOMEDCT_2005_07_31:27037004] DOID:12256 adrenogenital disease DOID:12257 medulloadrenal hyperfunction Medulloadrenal hyperfunction (disorder) EXACT [SNOMEDCT_2005_07_31:111565003] DOID:12258 acquired factor IX deficiency acquired factor IX deficiency disease (disorder) EXACT [SNOMEDCT_2005_07_31:12153008] DOID:12259 hemophilia B An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000539.htm] Hemophilia B (disorder) EXACT [SNOMEDCT_2005_07_31:41788008] DOID:12265 chronic salpingo-oophoritis chronic salpingo-oophoritis EXACT [SNOMEDCT_2005_07_31:198142001] DOID:12268 eclampsia with delivery DOID:12269 Toxemia with convulsions complicating pregnancy, childbirth or the puerperium DOID:1227 neutropenia DOID:12270 coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. [url:http\://en.wikipedia.org/wiki/Coloboma, url:http\://ghr.nlm.nih.gov/condition/coloboma] congenital ocular coloboma EXACT [] DOID:12271 aniridia Aplasia of iris EXACT [SNOMEDCT_2005_07_31:204161008] DOID:12273 anisometropia DOID:12274 anisometropia and aniseikonia Anisometropia or aniseikonia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193629004] DOID:12275 cutaneous diphtheria A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. [url:http\://en.wikipedia.org/wiki/Diphtheria, url:http\://www.merck.com/mmpe/sec14/ch172/ch172c.html, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746] Cutaneous diphtheria (disorder) EXACT [SNOMEDCT_2005_07_31:18901009] DOID:12276 malignant tumor of undescended testis malignant tumor of undescended testis (disorder) EXACT [SNOMEDCT_2005_07_31:188219004] DOID:1228 paranoid type schizophrenia in remission DOID:12282 femoral vein thrombophlebitis Thrombophlebitis of the femoral vein (disorder) EXACT [SNOMEDCT_2005_07_31:195410000] DOID:12284 maternal pyrexia in labor DOID:12286 testicular leukemia DOID:12287 Crimean-Congo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm, url:http\://www.who.int/mediacentre/factsheets/fs208/en/] Crimean hemorrhagic fever [CHF Congo virus] EXACT [ICD9CM_2006:065.0] DOID:1229 paranoid schizophrenia A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. [url:http\://en.wikipedia.org/wiki/Paranoid_schizophrenia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000936.htm] Paraphrenic schizophrenia EXACT [MTHICD9_2006:295.3] DOID:12292 recurrent malignant endocervical neoplasm DOID:12294 atypical depressive disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." [url:http\://en.wikipedia.org/wiki/Mood_disorder] Atypical depression EXACT [SNOMEDCT_2005_07_31:192371004] DOID:12297 Vogt-Koyanagi-Harada disease A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome] Vogt-Koyanagi-Harada disease (disorder) EXACT [SNOMEDCT_2005_07_31:193497004] DOID:12298 intrahepatic gall duct cancer malignant neoplasm of intrahepatic gall duct (disorder) EXACT [SNOMEDCT_2005_07_31:187777008] DOID:12301 speckled lentiginous nevus Speckled lentiginous naevus EXACT [SNOMEDCT_2005_07_31:75534002] DOID:12302 diphtheritic membranous angina A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. [url:http\://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf] Faucial diphtheria (disorder) EXACT [SNOMEDCT_2005_07_31:3419005] DOID:12304 conjunctival pigmentation DOID:12305 Bloch-Sulzberger syndrome Incontinentia pigmenti syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:367520004] DOID:12306 vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Vitiligo] DOID:12307 anterior corneal pigmentation Anterior corneal pigmentations EXACT [SNOMEDCT_2005_07_31:193805008] DOID:12308 Dubin-Johnson syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. [url:http\://en.wikipedia.org/wiki/Dubin-Johnson_syndrome] Dubin Johnson syndrome EXACT [CSP2005:1654-1020] DOID:12309 urticaria pigmentosa UP/MPCM EXACT [NCI2004_11_17:C3433] DOID:1231 chronic schizophrenia chronic schizophrenia (disorder) EXACT [SNOMEDCT_2005_07_31:83746006] DOID:12311 stromal corneal pigmentation Stromal corneal pigmentations EXACT [ICD9CM_2006:371.12] DOID:12318 corneal granular dystrophy granular corneal dystrophy EXACT [ICD9CM_2006:371.53] DOID:1232 paranoid type schizophrenia subchronic state with acute exacerbation DOID:12323 cough variant asthma An asthma that is characterized by chronic nonproductive cough without shortness of breath. [url:http\://www.aaaai.org/patients/topicofthemonth/0107/, url:http\://www.ncbi.nlm.nih.gov/pubmed/19272144] DOID:12324 transsexuality with homosexual history Transsexuality with homosexual history (disorder) EXACT [SNOMEDCT_2005_07_31:191784008] DOID:12325 kyphoscoliotic heart disease Kyphoscoliotic heart disease (disorder) EXACT [SNOMEDCT_2005_07_31:45650007] DOID:12326 chronic pulmonary heart disease DOID:12328 marasmus Nutritional marasmus (disorder) EXACT [SNOMEDCT_2005_07_31:29740003] DOID:1233 transvestism Transvestic fetishism EXACT [ICD9CM_2006:302.3] DOID:12332 hematocele of tunica vaginalis testis male hematocele EXACT [SNOMEDCT_2005_07_31:66259004] DOID:12333 male genital organ stricture Stricture of male genital organs EXACT [ICD9CM_2006:608.85] DOID:12335 male genital organ vascular disease vascular disorder of male genital organs EXACT [ICD9CM_2006:608.83] DOID:12336 male infertility DOID:12337 varicocele Scrotal varices EXACT [ICD9CM_2006:456.4] DOID:12338 redundant prepuce and phimosis DOID:12339 retroperitoneal lymphoma DOID:1234 gender identity disorder A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001527.htm] DOID:12341 retroperitoneal sarcoma A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/] retroperitoneal sarcoma (disorder) EXACT [SNOMEDCT_2005_07_31:307219002] DOID:12342 retroperitoneum carcinoma carcinoma of the retroperitoneum RELATED [] DOID:12346 hyperkinetic heart syndrome hyperkinetic heart disease RELATED [ICD9CM_2006:429.82] DOID:12347 osteogenesis imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. [url:http\://emedicine.medscape.com/article/947588-overview, url:http\://en.wikipedia.org/wiki/Osteogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00051, url:http\://osteogenesisimperfecta.org/, url:http\://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001573.htm, url:http\://www.oif.org/site/PageServer] Vrolik's disease EXACT [SNOMEDCT_2005_07_31:205492005] DOID:12349 primary eye hypotony primary hypotony of eye EXACT [SNOMEDCT_2005_07_31:2251002] DOID:1235 fetishism DOID:12351 alcoholic hepatitis Alcoholic hepatitis (disorder) EXACT [SNOMEDCT_2005_07_31:235875008] DOID:12355 prostatocystitis DOID:12356 bacterial prostatitis DOID:12357 viral labyrinthitis A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. [url:http\://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false] Viral labyrinthitis (disorder) EXACT [SNOMEDCT_2005_07_31:34243007] DOID:12358 patulous eustachian tube A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false] DOID:12359 endocrine exophthalmos DOID:12360 lateral displacement of eye Lateral displacement of globe EXACT [ICD9CM_2006:376.36] DOID:12361 Graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. [url:http\://en.wikipedia.org/wiki/Graves_disease] Graves disease EXACT [] DOID:12362 thyrotoxic exophthalmos DOID:12363 intermittent proptosis Intermittent exophthalmos EXACT [ICD9CM_2006:376.34] DOID:12364 pulsating exophthalmos DOID:12365 malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. [url:http\://en.wikipedia.org/wiki/Malaria, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria] induced malaria EXACT [] DOID:12369 prolapse of urethra Urethrocele EXACT [ICD9CM_2006:618.03] DOID:1237 corneal degeneration DOID:12375 bronchopneumonia A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. [url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/two/000014753.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia] lobular pneumonia EXACT [] DOID:12376 juvenile spinal muscular atrophy Type III Spinal Muscular Atrophy EXACT [] DOID:12377 spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. [url:http\://en.wikipedia.org/wiki/Spinal_muscular_atrophy, url:http\://www.ncbi.nlm.nih.gov/pubmed/26022173] DOID:12378 predominant psychomotor disturbance DOID:12379 mixed disorder as reaction to stress DOID:1238 acute erythremia and erythroleukemia in remission DOID:12380 predominant disturbance of consciousness DOID:12382 complex partial epilepsy Psychomotor epilepsy (disorder) EXACT [SNOMEDCT_2005_07_31:361123003] DOID:12384 dysentery An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea, url:http\://en.wikipedia.org/wiki/Dysentery, url:http\://www.who.int/topics/dysentery/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery] Infectious diarrhea EXACT [ICD9CM_2006:009.2] DOID:12385 shigellosis A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. [url:http\://emedicine.medscape.com/article/182767-overview#a0104, url:http\://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh] Shigella sonnei infectious disease EXACT [] DOID:12386 balantidiasis A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. [url:http\://www.ncbi.nlm.nih.gov/pubmed/14760781] disease due to Balantidiidae (disorder) EXACT [SNOMEDCT_2005_07_31:105638003] DOID:12387 nephrogenic diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). [url:http\://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus, url:http\://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus, url:http\://rarediseases.info.nih.gov/gard/7178/nephrogenic-diabetes-insipidus/resources/1, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/nephrogenic_diabetes_insipidus.html] vasopressin-resistant diabetes insipidus RELATED [] DOID:12388 neurohypophyseal diabetes insipidus Vasopressin deficiency EXACT [SNOMEDCT_2005_07_31:190484000] DOID:1239 acute erythremia and erythroleukemia DOID:12392 leukemic reticuloendotheliosis involving lymph nodes of head, face and neck Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder) EXACT [SNOMEDCT_2005_07_31:93148000] DOID:12395 spastic entropion DOID:12396 entropion and trichiasis of eyelid Entropion or trichiasis of eyelid NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193933009] DOID:12397 entropion DOID:12399 pathological gambling An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http\://www.forensicpsychiatry.ca/impulse/gambling.htm] Pathological gambling EXACT [SNOMEDCT_2005_07_31:192501004] DOID:1240 leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. [url:http\://en.wikipedia.org/wiki/Leukemia, url:http\://www.cancer.gov/dictionary?CdrID=45343] DOID:12400 kleptomania An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. [url:http\://www.forensicpsychiatry.ca/impulse/kleptomania.htm] Pathological stealing EXACT [SNOMEDCT_2005_07_31:192503001] DOID:12401 intermittent explosive disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. [url:http\://www.forensicpsychiatry.ca/impulse/explosive.htm] explosive personality disorder EXACT [] DOID:12402 pyromania An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. [url:http\://www.forensicpsychiatry.ca/impulse/pryromania.htm] Pathological firesetting EXACT [SNOMEDCT_2005_07_31:192502006] DOID:12403 tinea pedis A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. [stedman:rlc, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot] Tinea pedis (disorder) EXACT [SNOMEDCT_2005_07_31:6020002] DOID:12404 tinea A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. [url:http\://emedicine.medscape.com/article/787217-overview] ringworm EXACT [CSP2005:1988-5318] DOID:1241 luxation of globe Luxation of eye EXACT [SNOMEDCT_2005_07_31:20842008] DOID:12417 psychogenic dysmenorrhea Psychogenic dysmenorrhoea EXACT [SNOMEDCT_2005_07_31:268773000] DOID:1242 globe disease DOID:12424 thyrocalcitonin secretion disease disorder of thyrocalcitonin secretion (disorder) EXACT [SNOMEDCT_2005_07_31:190303007] DOID:1243 labia minora cancer malignant tumor of Labia Minora EXACT [NCI2004_11_17:C7637] DOID:12445 conjugate gaze palsy Palsy of conjugate gaze EXACT [ICD9CM_2006:378.81] DOID:12448 hematologic pregnancy complication DOID:12449 aplastic anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. [url:http\://en.wikipedia.org/wiki/Aplastic_anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/] DOID:1245 vulva cancer Vulvar tumor EXACT [NCI2004_11_17:C3443] DOID:12450 pancytopenia Pancytopenia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:267528007] DOID:12451 sulfhemoglobinemia Sulfhemoglobinemia (disorder) EXACT [SNOMEDCT_2005_07_31:32117000] DOID:12465 secondary hyperparathyroidism of renal origin secondary hyperparathyroidism (of renal origin) EXACT [ICD9CM_2006:588.81] DOID:12466 secondary hyperparathyroidism secondary hyperparathyroidism NOS EXACT [MTHICD9_2006:588.81] DOID:1247 blood coagulation disease postpartum coagulation defect with delivery EXACT [] DOID:12474 capillariasis A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] Capillaria infection (disorder) EXACT [SNOMEDCT_2005_07_31:52979002] DOID:12475 pes anserinus tendinitis or bursitis DOID:1248 ocular hyperemia hyperemia of conjunctiva EXACT [ICD9CM_2006:372.71] DOID:1249 Conjunctival vascular disorder and cysts Conjunctival vascular disorder and cysts (disorder) EXACT [SNOMEDCT_2005_07_31:193893005] DOID:12491 Vagus nerve disease Vagus nerve disorder EXACT [NCI2004_11_17:C27591] DOID:125 vagina leiomyoma leiomyoma of vagina EXACT [NCI2004_11_17:C6373] DOID:12506 Bell's palsy A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). [url:http\://en.wikipedia.org/wiki/Bell%27s_palsy] Bell's (facial) palsy EXACT [SNOMEDCT_2005_07_31:267703001] DOID:12508 simple type schizophrenia chronic state with acute exacerbation DOID:1251 tuberculous epididymitis An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. [url:http\://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html] DOID:12510 retinal ischemia DOID:12514 retinal perforation Retinal tear EXACT [SNOMEDCT_2005_07_31:40024006] DOID:1252 trichuriasis A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. [url:http\://en.wikipedia.org/wiki/Trichuriasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm] Whipworm disease EXACT [MTHICD9_2006:127.3] DOID:12522 bagassosis An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf, url:http\://www.merriam-webster.com/medical/bagassosis] sugar cane worker pneumonitis EXACT [CSP2005:2596-6673] DOID:12524 plantar nerve lesion Plantar nerve lesion NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193151006] DOID:12525 Lateral cutaneous femoral nerve of thigh compression or syndrome Meralgia paresthetica (disorder) EXACT [SNOMEDCT_2005_07_31:85007004] DOID:12526 tarsal tunnel syndrome DOID:12527 common peroneal nerve lesion Lesion of lateral popliteal nerve EXACT [ICD9CM_2006:355.3] DOID:12528 lesion of sciatic nerve Sciatic nerve lesion [Ambiguous] EXACT [SNOMEDCT_2005_07_31:193144002] DOID:12529 tibial nerve palsy Tibial nerve palsy (disorder) EXACT [SNOMEDCT_2005_07_31:365258000] DOID:1253 Enoplea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. [url:http\://en.wikipedia.org/wiki/Enoplia, url:http\://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm] enoplida infectious disease EXACT [] DOID:12531 von Willebrand's disease A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. [url:http\://en.wikipedia.org/wiki/Von_Willebrand_disease, url:http\://ghr.nlm.nih.gov/condition/von-willebrand-disease] von Willebrand-Jrgens disease EXACT [SNOMEDCT_2005_07_31:11093006] DOID:12537 hypermobility of coccyx hypermobility of the coccyx (disorder) EXACT [SNOMEDCT_2005_07_31:202809009] DOID:12538 Chlamydia trachomatis pharyngitis venereal disease of pharynx due to Chlamydia trachomatis EXACT [] DOID:12539 Chlamydia trachomatis proctitis Venereal disease of the anus and rectum due to Chlamydia trachomatis EXACT [ICD9CM_2006:099.52] DOID:1254 trichostrongylosis A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm] Trichostrongyliasis EXACT [ICD9CM_2006:127.6] DOID:12541 catatonic type schizophrenia subchronic state DOID:12542 catatonic type schizophrenia subchronic state with acute exacerbation DOID:12543 catatonic type schizophrenia chronic state with acute exacerbation DOID:12546 atrophic nonflaccid tympanic membrane DOID:12549 hepatitis A A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. [url:http\://www.cdc.gov/hepatitis/HAV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] Viral hepatitis, type A (disorder) EXACT [SNOMEDCT_2005_07_31:40468003] DOID:1255 trichostrongyloidiasis A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. [url:http\://en.wikipedia.org/wiki/Strongylida] DOID:12550 hepatic coma Hepatocerebral intoxication EXACT [MTHICD9_2006:572.2] DOID:12551 Escherichia coli septicemia Septicemia due to escherichia coli [E. coli] EXACT [ICD9CM_2006:038.42] DOID:12554 hemolytic-uremic syndrome hemolytic uremic syndrome EXACT [CSP2005:0427-1005] DOID:12555 acute renal failure with lesion of renal cortical necrosis DOID:12556 acute kidney tubular necrosis ATN - acute tubular necrosis EXACT [SNOMEDCT_2005_07_31:23697004] DOID:12557 Duane retraction syndrome Stilling-Turk-Duane syndrome EXACT [SNOMEDCT_2005_07_31:60318001] DOID:12558 chronic progressive external ophthalmoplegia progressive external ophthalmoplegia (disorder) EXACT [SNOMEDCT_2005_07_31:46252003] DOID:12559 idiopathic juvenile osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. [url:http\://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193] juvenile osteoporosis EXACT [] DOID:12566 ulceration of vulva DOID:12568 dyscalculia A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities] Mathematics disorder EXACT [ICD9CM_2006:315.1] DOID:12569 Chagas cardiomyopathy A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. [url:http\://en.wikipedia.org/wiki/Chagas_disease] chronic chagas' disease with heart involvement EXACT [] DOID:1257 Transient hypertension of pregnancy Transient hypertension of pregnancy, with delivery EXACT [] DOID:12570 phacolytic glaucoma DOID:12571 phacogenic glaucoma DOID:12573 neonatal thyrotoxicosis Neonatal thyrotoxicosis (disorder) EXACT [SNOMEDCT_2005_07_31:13795004] DOID:12574 posterior uveitis Uveitis, posterior EXACT [MTHICD9_2006:363.20] DOID:12577 urethral obstruction Obstruction of urethra (disorder) EXACT [SNOMEDCT_2005_07_31:95588004] DOID:12580 Cri-Du-Chat syndrome Cri-du-chat syndrome EXACT [ICD9CM_2006:758.31] DOID:12581 olecranon bursitis Shoe boil EXACT [SNOMEDCT_2005_07_31:77299006] DOID:12582 enthesopathy of elbow DOID:12583 velocardiofacial syndrome A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=PMID%3A+19243607] VCF-Velocardiofacial syndrome EXACT [SNOMEDCT_2005_07_31:83092002] DOID:12584 Diabetes mellitus of mother, with delivery Diabetes mellitus during pregnancy - baby delivered (disorder) EXACT [SNOMEDCT_2005_07_31:199225007] DOID:12594 Potter's syndrome An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. [url:http\://en.wikipedia.org/wiki/Potter_Syndrome] Potter syndrome EXACT [] DOID:1260 parametritis pelvic cellulitis EXACT [SNOMEDCT_2005_07_31:198165006] DOID:12603 acute leukemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. [url:http\://en.wikipedia.org/wiki/Acute_leukemia, url:http\://www.merck.com/mmpe/sec11/ch142/ch142b.html] Stem cell Leukemia EXACT [NCI2004_11_17:C9298] DOID:12604 secondary malignant neoplasm of suprarenal gland secondary malignant neoplasm of adrenal gland (disorder) EXACT [SNOMEDCT_2005_07_31:94161006] DOID:12605 metastasis to adrenals metastatic tumor to the Adrenals EXACT [NCI2004_11_17:C8610] DOID:12608 staphylococcal pneumonia A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13542104] Staphylococcus aureus pneumonia EXACT [] DOID:1261 AIDS-related pelvic inflammatory disease DOID:12610 adrenal hemorrhage of fetus or newborn DOID:12612 gastrointestinal hemorrhage of fetus or newborn DOID:12633 cervicofacial actinomycosis An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. [url:http\://emedicine.medscape.com/article/211587-overview, url:http\://www.scipub.org/fulltext/ajid/ajid43204-208.pdf] Lumpy jaw EXACT [SNOMEDCT_2005_07_31:398697005] DOID:12634 cerebral actinomycosis An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. [url:http\://journals.lww.com/smajournalonline/Citation/1965/02000/Cerebral_Abscess_due_to_Actinomyces_Israeli.18.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/18603353] cerebral actinomycoma EXACT [] DOID:12637 perineocele DOID:12638 hypertrophic pyloric stenosis A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. [url:http\://en.wikipedia.org/wiki/Pyloric_stenosis] congenital or infantile stricture of pylorus EXACT [MTHICD9_2006:750.5] DOID:12639 pyloric stenosis DOID:12641 displacement of cardia through esophageal hiatus Congenital hiatus hernia (disorder) EXACT [SNOMEDCT_2005_07_31:47028006] DOID:12642 hiatus hernia Hiatus hernia EXACT [SNOMEDCT_2005_07_31:196901006] DOID:12647 Congenital or acquired abnormality of vulva, with delivery DOID:1265 genitourinary cancer An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. [url:http\://en.wikipedia.org/wiki/Genitourinary_system, url:http\://en.wikipedia.org/wiki/Urogenital_neoplasm] DOID:12651 disorder of optic chiasm associated with inflammatory disorder DOID:12657 vestibulocochlear nerve disease acoustic nerve disease EXACT [ICD9CM_2006:388.5] DOID:12661 tooth ankylosis Ankylosis of tooth (disorder) EXACT [SNOMEDCT_2005_07_31:14901003] DOID:12662 paracoccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] Paracoccidioidomycosis, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187486002] DOID:12663 blastomycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. [url:http\://en.wikipedia.org/wiki/Blastomycosis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] North American blastomycosis EXACT [MTH:NOCODE] DOID:12667 binocular vision disease simultaneous visual perception without fusion EXACT [] DOID:12668 abnormal retinal correspondence DOID:12670 fusion with defective stereopsis Fusion with defective stereopsis (disorder) EXACT [SNOMEDCT_2005_07_31:32919003] DOID:12678 hypercalcemia DOID:12679 nephrocalcinosis DOID:12680 pseudobulbar palsy pseudobulbar paralysis EXACT [CSP2005:4000-0300] DOID:12683 vestibular neuronitis A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. [url:http\://en.wikipedia.org/wiki/Vestibular_neuritis, url:http\://www.ncbi.nlm.nih.gov/pubmed/16448876] Vestibular neuritis EXACT [SNOMEDCT_2005_07_31:186738001] DOID:12685 mixed receptive-expressive language disorder A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. [url:http\://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder] DOID:12689 acoustic neuroma Vestibular schwannoma EXACT [SNOMEDCT_2005_07_31:389982003] DOID:1269 thyroid gland tuberculosis tuberculosis of thyroid gland EXACT [] DOID:12694 hyperemesis gravidarum with metabolic disturbance hyperemesis gravidarum with metabolic disturbance, delivered EXACT [] DOID:12697 locked-in syndrome Locked-in state EXACT [ICD9CM_2006:344.81] DOID:12698 gynecomastia DOID:127 leiomyoma A cell type benign neoplasm that is a benign tumor of smooth muscle cells. [url:http\://en.wikipedia.org/wiki/Cancer, url:http\://en.wikipedia.org/wiki/Leiomyoma] leiomyomatous tumor EXACT [NCI2004_11_17:C3157] DOID:1270 hereditary hemorrhagic telangiectasia An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. [url:http\://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, url:http\://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1351/] Rendu-Osler-Weber disease EXACT [MTHICD9_2006:448.0] DOID:12700 hyperprolactinemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. [url:http\://en.wikipedia.org/wiki/Hyperprolactinemia] Pregnancy-related A-G syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:85039006] DOID:12702 Rotator cuff shoulder syndrome and allied disorder DOID:12704 ataxia telangiectasia Louis Bar syndrome EXACT [CSP2005:0485-2495] DOID:12705 Friedreich ataxia Friedreich's tabes EXACT [CSP2005:0485-3493] DOID:12707 myoclonic cerebellar dyssynergia progressive cerebellar tremor EXACT [SNOMEDCT_2005_07_31:41009006] DOID:1271 capillary disease A vascular disease that is located_in the capillaries. [url:http\://en.wikipedia.org/wiki/Capillary#Pathophysiology] disease of capillaries EXACT [] DOID:12710 Histoplasma duboisii pneumonia An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. [url:http\://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm, url:http\://www.jstor.org/stable/pdfplus/4547765.pdf, url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] pulmonary African histoplasmosis (disorder) EXACT [SNOMEDCT_2005_07_31:187052004] DOID:12711 black piedra A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. [url:http\://en.wikipedia.org/wiki/Black_piedra, url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/] DOID:12712 nephronophthisis An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/] medullary cystic kidney EXACT [ICD9CM_2006:753.16] DOID:12713 medullary sponge kidney Sponge kidney EXACT [SNOMEDCT_2005_07_31:204954005] DOID:12714 Ellis-Van Creveld syndrome Ellis-van Creveld syndrome EXACT [MTHICD9_2006:756.55] DOID:12715 infectious myositis Infective myositis (disorder) EXACT [SNOMEDCT_2005_07_31:29689003] DOID:12716 newborn respiratory distress syndrome A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome] respiratory distress syndrome of newborn EXACT [SNOMEDCT_2005_07_31:157107007] DOID:12718 chronic gonococcal salpingitis Gonococcal salpingitis EXACT [MTHICD9_2006:098.37] DOID:1272 telangiectasis telangiectasia EXACT [NCI2004_11_17:C28194] DOID:12720 cerebral atherosclerosis Cerebral atherosclerosis (disorder) EXACT [SNOMEDCT_2005_07_31:55382008] DOID:12721 multiple epiphyseal dysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. [url:http\://emedicine.medscape.com/article/1259038-overview, url:http\://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia, url:http\://www.healthline.com/galecontent/multiple-epiphyseal-dysplasia, url:http\://www.wheelessonline.com/ortho/multiple_epiphyseal_dysplasia] polyepiphyseal dysplasia EXACT [] DOID:12722 liver metastasis secondary malignant neoplasm of liver (disorder) EXACT [SNOMEDCT_2005_07_31:94381002] DOID:12723 lung carcinoma metastatic to the liver DOID:12724 breast arcinoma metastatic to the liver DOID:12727 retroverted incarcerated gravid uterus Retroverted incarcerated gravid uterus - delivered (disorder) EXACT [SNOMEDCT_2005_07_31:199468005] DOID:1273 respiratory syncytial virus infectious disease A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. [url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g] DOID:12731 pars planitis Posterior cyclitis EXACT [SNOMEDCT_2005_07_31:193452008] DOID:12732 intermediate uveitis peripheral uveoretinitis EXACT [SNOMEDCT_2005_07_31:314429009] DOID:12733 hypercementosis hypercementosis (disorder) EXACT [SNOMEDCT_2005_07_31:78537008] DOID:12735 hernia of ovary and fallopian tube DOID:12739 bronchial tuberculosis A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. [url:http\://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false] DOID:1275 Pneumovirus infectious disease A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. [url:http\://expasy.org/viralzone/all_by_species/90.html] DOID:12750 cyclosporiasis A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cyclosporiasis.htm] DOID:12753 corneal staphyloma DOID:12756 lacrimal duct cancer malignant tumor of lacrimal duct EXACT [NCI2004_11_17:C3567] DOID:12758 malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid EXACT [ICD9CM_2006:190.0] DOID:12759 choroid cancer neoplasm of choroid (disorder) EXACT [SNOMEDCT_2005_07_31:127001008] DOID:12763 classic Kaposi's sarcoma A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2] Kaposi's sarcoma Classical type EXACT [NCI2004_11_17:C9112] DOID:12765 peritonsillar abscess A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \hot potato voice\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common." [url:http\://en.wikipedia.org/wiki/Peritonsillar_abscess] Quinsy EXACT [MTHICD9_2006:475] DOID:12773 endemic African Kaposi's sarcoma A Kaposi's sarcoma that is located_in black Africans. [url:http\://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009, url:http\://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm] DOID:12779 recurrent Kaposi's sarcoma A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. [url:http\://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116] recurrent Multiple Hemorrhagic sarcoma EXACT [NCI2004_11_17:C7935] DOID:1278 tolosa-hunt syndrome Tolosa-Hunt syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:95794005] DOID:12782 cicatricial ectropion DOID:12783 migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura. [url:http\://en.wikipedia.org/wiki/Migraine] common migraine EXACT [] DOID:12784 diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations EXACT [ICD9CM_2006:250.61] DOID:12785 diabetic polyneuropathy Polyneuropathy in diabetes EXACT [SNOMEDCT_2005_07_31:193182005] DOID:1279 ocular motility disease Unspecified disorder of eye movements EXACT [ICD9CM_2006:378.9] DOID:12796 Posterior synechiae Posterior synechiae of iris EXACT [ICD9CM_2006:364.71] DOID:12797 hallucinogen abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. [url:http\://en.wikipedia.org/wiki/Hallucinogen] DOID:12798 mucopolysaccharidosis A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis] DOID:12799 mucopolysaccharidosis II A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. [url:http\://en.wikipedia.org/wiki/Hunter_syndrome] Mucopolysaccharidosis, MPS-II (disorder) EXACT [SNOMEDCT_2005_07_31:70737009] DOID:128 vaginal soft tissue tumor DOID:12800 mucopolysaccharidosis VI A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. [url:http\://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome] MPS VI - Maroteaux-Lamy syndrome EXACT [] DOID:12801 mucopolysaccharidosis III A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. [url:http\://en.wikipedia.org/wiki/Sanfilippo_syndrome] Sanfilippo's syndrome EXACT [MTHICD9_2006:277.5] DOID:12802 mucopolysaccharidosis I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I] Mucopolysaccharidosis, type 1 EXACT [SNOMEDCT_2005_07_31:190938004] DOID:12803 Sly syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII, url:http\://omim.org/entry/253220] mucopolysaccharidosis VII EXACT [] DOID:12804 mucopolysaccharidosis IV A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. [url:http\://en.wikipedia.org/wiki/Morquio_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002186/] Osteochondrodystrophy EXACT [SNOMEDCT_2005_07_31:190936000] DOID:12809 chronic lacrimal gland enlargement chronic enlargement of lacrimal gland EXACT [ICD9CM_2006:375.03] DOID:12819 Clostridium difficile intestinal infectious disease A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. [url:http\://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf] intestinal infectious disease due to clostridium difficile EXACT [] DOID:1283 enterocele vaginal enterocele EXACT [SNOMEDCT_2005_07_31:270884000] DOID:12835 quadriplegia tetraplegia EXACT [CSP2005:2057-3626] DOID:12836 senile entropion Involutional entropion EXACT [SNOMEDCT_2005_07_31:55408009] DOID:12837 thyroid crisis Thyrotoxic crisis (disorder) EXACT [SNOMEDCT_2005_07_31:29028009] DOID:12838 secondary thyroid hyperplasia DOID:12839 thyrotoxicosis from ectopic thyroid nodule Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm EXACT [ICD9CM_2006:242.40] DOID:1284 prolapse of female genital organ DOID:12840 Ancylostoma ceylanicum ancylostomiasis An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. [url:http\://emedicine.medscape.com/article/996361-overview] Ancylostomiasis due to Ancylostoma ceylonicum (disorder) EXACT [SNOMEDCT_2005_07_31:38725001] DOID:12841 ancylostomiasis A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. [url:http\://en.wikipedia.org/wiki/Ancylostomiasis] Ancylostomosis EXACT [SNOMEDCT_2005_07_31:85807000] DOID:12842 Guillain-Barre syndrome An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. [url:http\://www.ninds.nih.gov/disorders/gbs/gbs.htm] Postinfectious polyneuritis EXACT [MTHICD9_2006:357.0] DOID:12843 polyneuritis Polyneuritis (disorder) EXACT [SNOMEDCT_2005_07_31:76886005] DOID:12849 autistic disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. [url:http\://en.wikipedia.org/wiki/Autism, url:www.neurodevnet.ca] Kanner's syndrome EXACT [MTHICD9_2006:299.0] DOID:1285 rectal disease DOID:12852 adhesions of drum head to incus DOID:12853 adhesions of drum head to promontorium DOID:12854 adhesions of drum head to stapes DOID:12857 achilles bursitis Haglund's disease EXACT [SNOMEDCT_2005_07_31:203394008] DOID:12858 Huntington's disease A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. [url:http\://en.wikipedia.org/wiki/Huntington_disease, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple] Huntington's chorea EXACT [ICD9CM_2006:333.4] DOID:12859 choreatic disease A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. [url:http\://en.wikipedia.org/wiki/Chorea, url:http\://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders] hereditary chorea EXACT [] DOID:12860 non-neoplastic nevus of skin Non-neoplastic nevus of skin (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:11790000] DOID:12863 senile nevus Senile nevus (disorder) EXACT [SNOMEDCT_2005_07_31:195383008] DOID:12864 acrosyringeal nevus Acrosyringeal nevus (disorder) EXACT [SNOMEDCT_2005_07_31:239117002] DOID:1287 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. [url:http\://en.wikipedia.org/wiki/Circulatory_system] disease of subdivision of hemolymphoid system EXACT [] DOID:12879 Pars plana exudative cyst Exudative cyst of pars plana (disorder) EXACT [SNOMEDCT_2005_07_31:63317005] DOID:12881 idiopathic urticaria Idiopathic urticaria (disorder) EXACT [SNOMEDCT_2005_07_31:42265009] DOID:12883 hypochondriasis A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. [url:http\://en.wikipedia.org/wiki/Hypochondriasis] hypochondriacal neurosis EXACT [CSP2005:2483-6952] DOID:12888 Chlamydophila psittaci pneumonia An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. [url:http\://en.wikipedia.org/wiki/Ornithosis, url:http\://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03] Ornithosis with pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:81164001] DOID:12889 Miller Fisher syndrome A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. [url:http\://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification] Miller-Fisher variant of Guillain-Barre syndrome EXACT [SNOMEDCT_2005_07_31:230548007] DOID:1289 neurodegenerative disease A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. [url:http\://en.wikipedia.org/wiki/Degenerative_disease, url:http\://en.wikipedia.org/wiki/Neurodegeneration] Neurodegenerative disease EXACT [NCI2004_11_17:C4802] DOID:12894 Sjogren's syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome] xerodermosteosis EXACT [CSP2005:0729-8405] DOID:12895 keratoconjunctivitis sicca KCS EXACT [CSP2005:1114-9026] DOID:12897 submandibular gland disease DOID:12899 benign lymphoepithelial lesion of salivary gland Godwin tumor EXACT [NCI2004_11_17:C3949] DOID:12900 Mikulicz disease Mikulicz's disease EXACT [SNOMEDCT_2005_07_31:196478007] DOID:12901 necrotizing sialometaplasia Necrotizing sialometaplasia (disorder) EXACT [SNOMEDCT_2005_07_31:109769000] DOID:12904 mucocele of salivary gland Salivary gland mucocele NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196512002] DOID:12905 sialolithiasis Stone of salivary gland or duct EXACT [MTHICD9_2006:527.5] DOID:12910 sickle-cell/Hb-C disease with crisis Sickle cell-hemoglobin C disease with crisis (disorder) EXACT [SNOMEDCT_2005_07_31:417517009] DOID:12918 thromboangiitis obliterans Thromboangiitis obliterans NOS (disorder) EXACT [SNOMEDCT_2005_07_31:195300008] DOID:12919 Plasmodium ovale malaria A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria] Ovale malaria (disorder) EXACT [SNOMEDCT_2005_07_31:19341001] DOID:12921 childhood schizophrenia Schizophrenic syndrome of childhood NOS EXACT [MTHICD9_2006:299.9] DOID:12922 acute undifferentiated schizophrenia acute schizophrenic episode, unspecified state EXACT [ICD9CM_2006:295.40] DOID:12923 chronic undifferentiated schizophrenia Unspecified schizophrenia, chronic state EXACT [ICD9CM_2006:295.92] DOID:12926 hypodermyiasis A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. [url:http\://en.wikipedia.org/wiki/Dermatobia_hominis, url:http\://en.wikipedia.org/wiki/Hypodermyiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] DOID:12927 screw worm infectious disease A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. [url:http\://en.wikipedia.org/wiki/Chrysomya_bezziana, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] DOID:12928 nutritional cardiomyopathy Nutritional and metabolic cardiomyopathy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:266243002] DOID:12929 endocardial fibroelastosis An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. [url:http\://en.wikipedia.org/wiki/Endocardial_fibroelastosis, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract] Elastomyofibrosis EXACT [MTHICD9_2006:425.3] DOID:1293 labia minora carcinoma Labia Minora cancer EXACT [NCI2004_11_17:C9364] DOID:12930 dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart. [url:http\://en.wikipedia.org/wiki/Dilated_cardiomyopathy] primary dilated cardiomyopathy EXACT [] DOID:12932 endomyocardial fibrosis Obscure African cardiomyopathy (disorder) EXACT [SNOMEDCT_2005_07_31:266242007] DOID:12934 Kearns-Sayre syndrome Kearns-Sayre syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:25792000] DOID:12935 alcoholic cardiomyopathy Dilated cardiomyopathy secondary to alcohol (disorder) EXACT [SNOMEDCT_2005_07_31:83521008] DOID:12936 secondary cardiomyopathy secondary cardiomyopathy, unspecified EXACT [ICD9CM_2006:425.9] DOID:1294 vulva carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://www.cancer.gov/cancertopics/types/vulvar] Vulvar carcinoma EXACT [NCI2004_11_17:C4866] DOID:12958 paralytic lagophthalmos DOID:12959 lagophthalmos DOID:12960 acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly. [url:http\://en.wikipedia.org/wiki/Acrocephalosyndactylia, url:http\://www.netterimages.com/image/acrocephalosyndactylia.htm] Apert syndrome EXACT [SNOMEDCT_2005_07_31:205257004] DOID:12961 Poland syndrome Poland's syndactyly EXACT [] DOID:12965 subleukemic leukemia A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. [url:http\://medical-dictionary.thefreedictionary.com/subleukemic+leukemia] DOID:12969 central nervous system leukemia A hematologic cancer located_in the central nervous system. [url:http\://www.springerlink.com/content/gl61tx644217n938/] Leukemia of the CNS EXACT [NCI2004_11_17:C5440] DOID:12971 hereditary spherocytosis A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. [url:http\://en.wikipedia.org/wiki/Hereditary_spherocytosis] spherocytic anemia EXACT [] DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:188650008] DOID:12973 secondary malignant neoplasm of intrapelvic lymph node secondary malignant neoplasm of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:94350006] DOID:12978 Plasmodium vivax malaria A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria] Vivax malaria [benign tertian] EXACT [ICD9CM_2006:084.1] DOID:12983 transient disorder of initiating or maintaining sleep DOID:12984 vagus nerve neoplasm Vagus nerve tumors EXACT [NCI2004_11_17:C5831] DOID:12985 functional disorder of polymorphonuclear neutrophils Functional disorder of polymorphonuclear neutrophils (disorder) EXACT [SNOMEDCT_2005_07_31:267543009] DOID:12986 leukostasis Leukostasis (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:30419000] DOID:12987 agranulocytosis Granulopenia EXACT [SNOMEDCT_2005_07_31:72885007] DOID:12995 conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. [url:http\://en.wikipedia.org/wiki/Conduct_disorder, url:http\://www.nmha.org/go/conduct-disorder] DOID:12996 acute dacryocystitis Dacryocystitis - acute EXACT [SNOMEDCT_2005_07_31:193986007] DOID:12997 Phlegmonous dacryocystitis DOID:130 female genitalia nevus DOID:13001 carotid stenosis Stenosis, carotid artery EXACT [SNOMEDCT_2005_07_31:195181000] DOID:13002 subclavian steal syndrome subclavian steal steno-occlusive disease EXACT [] DOID:13003 vertebrobasilar insufficiency Vertebrobasilar insufficiency EXACT [SNOMEDCT_2005_07_31:394517009] DOID:13005 intra-abdominal lymph node mast cell malignancy Mast cell malignancy of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188664008] DOID:1301 RNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. [url:http\://en.wikipedia.org/wiki/RNA_viruses] Viral hemorrhagic fever (disorder) EXACT [SNOMEDCT_2005_07_31:240523007] DOID:13014 shipyard eye Epidemic keratoconjunctivitis EXACT [ICD9CM_2006:077.1] DOID:13019 cryptococcal gastroenteritis A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. [url:http\://smj.sma.org.sg/4911/4911cr4.pdf, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf] Cryptococcal gastroenteritis (disorder) EXACT [SNOMEDCT_2005_07_31:35974005] DOID:13020 pulmonary cryptococcosis A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. [url:http\://en.wikipedia.org/wiki/Cryptococcosis, url:http\://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/17312037, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cryptococcosis] Cryptococcal Pneumonia EXACT [NCI2004_11_17:C35361] DOID:13021 AIDS-related cryptococcosis A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] DOID:13023 sickle cell trait Sickle-cell trait EXACT [ICD9CM_2006:282.5] DOID:13025 retinopathy of prematurity Retrolental fibroplasia EXACT [ICD9CM_2006:362.21] DOID:13026 lobomycosis A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. [url:http\://www.cdc.gov/EID/content/15/8/1301.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html] infection by Loboa loboi EXACT [MTHICD9_2006:116.2] DOID:13027 transient global amnesia An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. [url:http\://emedicine.medscape.com/article/1160964-overview, url:http\://en.wikipedia.org/wiki/Transient_global_amnesia] DOID:13031 balanoposthitis DOID:13032 Trichomonas balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. [url:http\://emedicine.medscape.com/article/230617-overview] Trichomonas Balanoposthitis EXACT [NCI2004_11_17:C35406] DOID:13033 balanitis DOID:13034 relapsing fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. [url:http\://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html] DOID:13035 louse-borne relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. [url:http\://emedicine.medscape.com/article/787000-overview#a0104] Relapsing fever, louse-borne EXACT [ICD9CM_2006:087.0] DOID:13036 tick-borne relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. [url:http\://emedicine.medscape.com/article/787000-overview#a0104, url:http\://en.wikipedia.org/wiki/Relapsing_fever] Tick-borne relapsing fever NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186821005] DOID:13037 mechanical lagophthalmos DOID:13038 cicatricial lagophthalmos DOID:13040 syphilitic optic atrophy Syphilitic optic atrophy (disorder) EXACT [SNOMEDCT_2005_07_31:22386003] DOID:13042 persistent fetal circulation syndrome Persistent pulmonary hypertension of the newborn (disorder) EXACT [SNOMEDCT_2005_07_31:233815004] DOID:13046 acute sphenoidal sinusitis A sphenoid sinusitis which lasts for less than 4 weeks. [url:http\://en.wikipedia.org/wiki/sinusitis] Sphenoidal sinus -acute EXACT [SNOMEDCT_2005_07_31:266378004] DOID:13047 Ancylostoma braziliense ancylostomiasis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720113/pdf/v090p00998.pdf] Ancylostomiasis due to Ancylostoma braziliense (disorder) EXACT [SNOMEDCT_2005_07_31:22728002] DOID:13049 Ancylostoma duodenale ancylostomiasis An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. [url:http\://en.wikipedia.org/wiki/Ancylostoma_duodenale] Ancylostomiasis due to Ancylostoma duodenale (disorder) EXACT [SNOMEDCT_2005_07_31:7386008] DOID:1305 AIDS dementia complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. [url:http\://en.wikipedia.org/wiki/AIDS_dementia_complex] HIV-associated dementia EXACT [] DOID:13050 corpus luteum cyst DOID:1306 HIV encephalopathy An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. [url:http\://emedicine.medscape.com/article/1166894-overview] Human immunodefiency virus encephalopathy EXACT [SNOMEDCT_2005_07_31:31363004] DOID:13060 traumatic glaucoma Glaucoma associated with ocular trauma EXACT [ICD9CM_2006:365.65] DOID:13063 moderate recurrent major depression recurrent depressive disorder, current episode moderate (disorder) EXACT [SNOMEDCT_2005_07_31:192376009] DOID:13068 renal osteodystrophy renal rickets EXACT [SNOMEDCT_2005_07_31:197667002] DOID:1307 dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm] DOID:13072 acquired hyperkeratosis Keratoderma, acquired EXACT [ICD9CM_2006:701.1] DOID:13074 tinea unguium A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. [url:http\://en.wikipedia.org/wiki/Nail_disease, url:http\://en.wikipedia.org/wiki/Onychomycosis] Tinea unguium RELATED [] DOID:13076 abdominal actinomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14616714] DOID:13077 cutaneous actinomycosis An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. [url:http\://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html, url:http\://en.wikipedia.org/wiki/Cutaneous_actinomycosis] DOID:13078 eumycotic mycetoma A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. [url:http\://emedicine.medscape.com/article/1090738-overview, url:http\://en.wikipedia.org/wiki/Maduromycosis, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html] Mycotic mycetoma (disorder) EXACT [SNOMEDCT_2005_07_31:29761005] DOID:1308 AIDS related complex A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. [url:http\://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html, url:http\://www.medterms.com/script/main/art.asp?articlekey=10924] AIDS-like syndrome EXACT [MTHICD9_2006:042] DOID:13080 Jaccoud's syndrome Jaccoud syndrome EXACT [] DOID:13081 hemangioma of subcutaneous tissue Subcutaneous hemangioma (disorder) EXACT [SNOMEDCT_2005_07_31:254823000] DOID:13087 Lown-Ganong-Levine syndrome A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. [url:http\://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome] syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias EXACT [MTHICD9_2006:426.81] DOID:13088 periventricular leukomalacia Periventricular leukomalacia EXACT [ICD9CM_2006:779.7] DOID:13089 intracranial arterial disease DOID:13094 branch retinal artery occlusion Retinal arterial branch occlusion EXACT [ICD9CM_2006:362.32] DOID:13095 vertebral artery insufficiency Vertebral artery syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:34781003] DOID:13096 Sneddon syndrome Idiopathic livedo reticularis with systemic involvement (disorder) EXACT [SNOMEDCT_2005_07_31:238776001] DOID:13097 intracranial arteriosclerosis DOID:13098 central retinal artery occlusion A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. [url:http\://en.wikipedia.org/wiki/Central_retinal_artery_occlusion] DOID:13099 Moyamoya disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. [url:http\://en.wikipedia.org/wiki/Moyamoya_disease, url:http\://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1] progressive intracranial arterial occlusion EXACT [] DOID:13100 intracranial vasospasm DOID:13109 bladder leiomyoma leiomyoma of the urinary bladder EXACT [NCI2004_11_17:C6178] DOID:1311 HIV-associated nephropathy A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. [url:http\://emedicine.medscape.com/article/246031-overview] AIDS-Related nephropathy EXACT [NCI2004_11_17:C26918] DOID:13110 bladder squamous papilloma DOID:13112 mechanical entropion DOID:13113 cicatricial entropion DOID:13117 paronychia Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. [url:http\://en.wikipedia.org/wiki/Paronychia] paronychia inflammation RELATED [] DOID:1312 focal segmental glomerulosclerosis FSGS EXACT [SNOMEDCT_2005_07_31:236403004] DOID:13120 protein-deficiency anemia Protein-deficiency anemia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:191159002] DOID:13121 deficiency anemia Unspecified deficiency anemia EXACT [ICD9CM_2006:281.9] DOID:13127 gonococcal spondylitis Gonococcal spondylitis (disorder) EXACT [SNOMEDCT_2005_07_31:53664003] DOID:13129 severe pre-eclampsia A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. [url:http\://emedicine.medscape.com/article/1476919-overview] severe preeclampsia EXACT [] DOID:1313 HIV wasting syndrome An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. [url:http\://en.wikipedia.org/wiki/AIDS_wasting_syndrome, url:http\://www.aidsinfonet.org/fact_sheets/view/519] Human immunodeficiency virus infection wasting syndrome EXACT [SNOMEDCT_2005_07_31:186727001] DOID:13133 HELLP syndrome A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. [PMID:24400024, PMID:25879992] syndrome of haemolysis, elevated liver enzymes and low platelet EXACT [SNOMEDCT_2005_07_31:199010001] DOID:13134 hordeolum externum A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. [url:http\://en.wikipedia.org/wiki/Stye] external stye EXACT [] DOID:13135 exophthalmic ophthalmoplegia DOID:13137 Werdnig-Hoffmann disease Werdnig-Hoffman disease RELATED [SNOMEDCT_2005_07_31:155016008] DOID:13138 acute proliferative glomerulonephritis acute glomerulonephritis with lesion of proliferative glomerulonephritis EXACT [ICD9CM_2006:580.0] DOID:13139 crescentic glomerulonephritis DOID:1314 wasting syndrome Wasting disease, NOS EXACT [SNOMEDCT_2005_07_31:28928000] DOID:13140 suppurative uveitis DOID:13141 uveitis DOID:13143 benign secondary hypertension DOID:13145 benign renovascular hypertension DOID:13146 esophageal candidiasis A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. [url:http\://en.wikipedia.org/wiki/Esophageal_candidiasis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] esophageal thrush EXACT [] DOID:13147 fungal esophagitis Fungal esophagitis (disorder) EXACT [SNOMEDCT_2005_07_31:235602008] DOID:13148 acute cystitis A cystitis characterized by a sudden onset or severe symptoms. [url:http\://en.wikipedia.org/wiki/Urinary_tract_infection] urinary tract infection EXACT [] DOID:13149 tuberculous lung fibrosis A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html] Tuberculous fibrosis of lung, unspecified examination EXACT [ICD9CM_2006:011.40] DOID:13157 sensory disorder of eyelid Sensory disorder of eyelid (disorder) EXACT [SNOMEDCT_2005_07_31:38872009] DOID:13159 scrotum squamous cell carcinoma squamous cell carcinoma of scrotum (disorder) EXACT [SNOMEDCT_2005_07_31:276860003] DOID:13160 scrotum melanoma melanoma of scrotum EXACT [NCI2004_11_17:C7361] DOID:13164 Bordetella pertussis pneumonia A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh] Pneumonia in whooping cough EXACT [ICD9CM_2006:484.3] DOID:13165 Aspergillus pneumonia An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. [url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/15735246] Pneumonia in aspergillosis EXACT [ICD9CM_2006:484.6] DOID:13166 allergic bronchopulmonary aspergillosis An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. [ls:IEDB, url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000070.htm] pulmonary aspergillus disease EXACT [SNOMEDCT_2005_07_31:187086008] DOID:13168 prepuce cancer malignant tumor of foreskin (disorder) EXACT [SNOMEDCT_2005_07_31:363450006] DOID:13169 spermatic cord cancer Spermatic cord Ca EXACT [SNOMEDCT_2005_07_31:94065000] DOID:13174 dissociated nystagmus Dissociated nystagmus (disorder) EXACT [SNOMEDCT_2005_07_31:9520006] DOID:13175 female genital tuberculosis Tuberculosis of female genital organs RELATED [] DOID:13177 chronic erythremia in remission DOID:13185 esophageal diverticulosis DOID:13186 megaesophagus Megaesophagus (disorder) EXACT [SNOMEDCT_2005_07_31:70667005] DOID:13189 gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. [url:http\://en.wikipedia.org/wiki/Gout, url:http\://www.mayoclinic.com/health/gout/DS00090, url:http\://www.medicinenet.com/gout/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000422.htm] Gouty arthropathy EXACT [ICD9CM_2006:274.0, SNOMEDCT_2005_07_31:154746009] DOID:1319 brain cancer A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. [url:http\://www.cancer.gov/dictionary?CdrID=387264] tumor of the Brain EXACT [NCI2004_11_17:C2907] DOID:13192 pulmonary congestion and hypostasis pulmonary congestion and hypostasis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196120007] DOID:13194 non-toxic nodular goiter Unspecified nontoxic nodular goiter EXACT [ICD9CM_2006:241.9] DOID:13195 nontoxic goiter Nontoxic Goiter EXACT [NCI2004_11_17:C35271] DOID:13196 lingual goiter Lingual goiter (disorder) EXACT [SNOMEDCT_2005_07_31:75667007] DOID:13197 nodular goiter nodular goitre EXACT [SNOMEDCT_2005_07_31:190236006] DOID:13198 endemic goiter simple goitre EXACT [SNOMEDCT_2005_07_31:190234009] DOID:13200 substernal goiter Substernal goiter (disorder) EXACT [SNOMEDCT_2005_07_31:66392007] DOID:13202 secondary syphilitic iridocyclitis Syphilitic iridocyclitis (secondary) EXACT [ICD9CM_2006:091.52] DOID:13206 nodular prostate DOID:13207 proliferative diabetic retinopathy PDR EXACT [SNOMEDCT_2005_07_31:59276001] DOID:13208 background diabetic retinopathy Non-Proliferative Diabetic Retinopathy EXACT [NCI2004_11_17:C35668] DOID:13209 right bundle branch block Right bundle branch block with left posterior fascicular block (disorder) EXACT [SNOMEDCT_2005_07_31:46319007] DOID:13211 secondary malignant neoplasm of brain and spinal cord secondary malignant neoplasm of brain or spinal cord NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188465004] DOID:13212 metastasis to skin secondary malignant neoplasm of skin NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188461008] DOID:13213 metastatic cancer to the breast secondary malignant neoplasm of female breast (disorder) EXACT [SNOMEDCT_2005_07_31:94297009] DOID:13214 hole retinal cyst Macular pseudohole retinal cyst EXACT [SNOMEDCT_2005_07_31:1079004] DOID:13219 transsexuality with heterosexual history Transsexuality with heterosexual history (disorder) EXACT [SNOMEDCT_2005_07_31:191785009] DOID:13222 submucous uterine fibroid Submucous leiomyoma of uterus (disorder) EXACT [SNOMEDCT_2005_07_31:95279007] DOID:13223 uterine fibroid A uterine benign neoplasm derived from the smooth muscle layer of the uterus. [url:http\://en.wikipedia.org/wiki/Uterine_fibroid, url:http\://www.nlm.nih.gov/medlineplus/uterinefibroids.html] UTERUS FIBROMA EXACT [MTH:769] DOID:13224 introverted personality DOID:13226 oculoglandular tularemia A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. [url:http\://www.cdc.gov/tularemia/signssymptoms/] Oculoglandular tularemia (disorder) EXACT [SNOMEDCT_2005_07_31:73363000] DOID:13227 retinal dystrophies primarily involving Bruch's membrane retinal dystrophies primarily involving Bruch membrane EXACT [] DOID:1323 malignant neoplasm of trachea, bronchus and lung malignant neoplasm of trachea, bronchus, and lung EXACT [ICD9CM_2006:162] DOID:13232 Diffuse cholesteatosis of middle ear and mastoid DOID:13238 Haverhill fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. [url:http\://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002324/] Streptobacillosis RELATED [] DOID:13239 internal pathological resorption DOID:1324 lung cancer A respiratory system cancer that is located_in the lung. [url:http\://en.wikipedia.org/wiki/Lung_cancer] lung neoplasm RELATED [] DOID:13240 tooth resorption DOID:13241 Behcet's disease A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. [url:http\://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/behcetssyndrome.html] triple symptom complex EXACT [CSP2005:0944-7825] DOID:13248 mucocele of appendix Mucocele of appendix (disorder) EXACT [SNOMEDCT_2005_07_31:53773002] DOID:13249 pneumatosis cystoides intestinalis Pneumatosis cystoides intestinalis (disorder) EXACT [SNOMEDCT_2005_07_31:17465007] DOID:1325 bronchus cancer A respiratory system cancer that is located_in the bronchus. [url:http\://en.wikipedia.org/wiki/Bronchus] malignant neoplasm of bronchus or lung, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:190092003] DOID:13250 diarrhea A gastrointestinal system disease described as the condition of having 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. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] diarrhoea RELATED [] DOID:13251 HIV enteropathy A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf] DOID:13252 mesenteric vascular occlusion DOID:13253 jejunal disease DOID:13254 diverticulitis of colon A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. [url:https\://en.wikipedia.org/wiki/Diverticulitis] Diverticulosis of colon with hemorrhage EXACT [] DOID:13257 Histoplasma duboisii endocarditis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. [url:http\://emedicine.medscape.com/article/299054-overview] Histoplasma duboisii with endocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:187051006] DOID:13258 typhoid fever A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. [url:http\://www.merriam-webster.com/medlineplus/typhoid%20fever] Typhoid infection EXACT [MTHICD9_2006:002.0] DOID:13262 hallucinatory state induced by drug Drug-induced psychotic disorder with hallucinations EXACT [ICD9CM_2006:292.12] DOID:13268 porphyria An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. [url:http\://en.wikipedia.org/wiki/Porphyria#Subtypes] Porphyrinopathy (disorder) EXACT [SNOMEDCT_2005_07_31:371628009] DOID:13269 hereditary coproporphyria hereditary coproporphyria porphyria EXACT [CSP2005:1849-7674] DOID:13270 erythropoietic protoporphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. [url:http\://en.wikipedia.org/wiki/Erythropoietic_protoporphyria] Protoporphyria EXACT [MTHICD9_2006:277.1] DOID:13271 cutaneous porphyria Erythropoietic porphyria (disorder) EXACT [SNOMEDCT_2005_07_31:67312003] DOID:13272 Klebsiella pneumonia A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble \red-currant jelly\". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis." [url:http\://books.google.com/books?id=Bv68Qo6apvQC&pg=PA639&lpg#v=onepage&q=&f=false, url:http\://en.wikipedia.org/wiki/Klebsiella_pneumonia] Pneumonia due to Klebsiella pneumoniae (disorder) EXACT [SNOMEDCT_2005_07_31:64479007] DOID:13273 Escherichia coli pneumonia A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. [url:http\://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false] Pneumonia due to escherichia coli [E. coli] EXACT [ICD9CM_2006:482.82] DOID:13274 enzootic pneumonia of calves A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm] Enzootic pneumonia of calves (disorder) EXACT [SNOMEDCT_2005_07_31:57086000] DOID:13275 rickettsial pneumonia A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false] Rickettsial pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:233621003] DOID:13276 Mycoplasma pneumoniae pneumonia A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000082.htm] Pneumonia due to Mycoplasma pneumoniae (disorder) EXACT [SNOMEDCT_2005_07_31:46970008] DOID:13277 Mycoplasma hyopneumoniae pneumonia A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. [url:http\://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false] mycoplasmal pneumonia of swine EXACT [] DOID:13278 Salmonella pneumonia A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false] Salmonella pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:2523007] DOID:1328 Rift Valley fever A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. [url:ftp\://ftp.fao.org/docrep/fao/005/y4140e/y4140e00.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm, url:http\://www.who.int/mediacentre/factsheets/fs207/en/] DOID:13282 intestinal tuberculosis A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. [url:http\://smj.sma.org.sg/5006/5006pe1.pdf] tuberculosis of intestine EXACT [] DOID:13285 enteroinvasive Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. [url:http\://www.textbookofbacteriology.net/e.coli_4.html] intestinal infectious disease due to enteroinvasive E. coli EXACT [ICD9CM_2006:008.03] DOID:13295 crater-like holes of optic disc Crater-like optic disc holes EXACT [SNOMEDCT_2005_07_31:194048008] DOID:133 vaginal mullerian papilloma DOID:13300 Scheuermann's disease An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. [url:http\://emedicine.medscape.com/article/311959-overview, url:http\://en.wikipedia.org/wiki/Scheuermann%27s_disease, url:http\://www.spineuniverse.com/conditions/kyphosis/scheuermanns-kyphosis-scheuermanns-disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease] Sherman's Disease EXACT [] DOID:13305 anterior nasal diphtheria A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf] Anterior nasal diphtheria (disorder) EXACT [SNOMEDCT_2005_07_31:15682004] DOID:13306 diphtheritic cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. [url:http\://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/18889690] DOID:13307 pseudomembranous diphtheritic conjunctivitis A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. [url:http\://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false] Pseudomembranous Diphtheritic Conjunctivitis EXACT [NCI2004_11_17:C34543] DOID:13308 diphtheritic myocarditis A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. [url:http\://www.journals.uchicago.edu/doi/abs/10.1086/344176] Diphtheritic myocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:26117009] DOID:13309 nasopharyngeal diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic \bullneck\" apprearance." [url:http\://www.jstor.org/stable/3417440?seq=2] Nasopharyngeal diphtheria (disorder) EXACT [SNOMEDCT_2005_07_31:75589004] DOID:13310 diphtheritic peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. [url:http\://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false] DOID:13313 pancreatic mucinous ductal ectasia DOID:13315 relapsing pancreatitis DOID:13316 exocrine pancreatic insufficiency Exocrine pancreatic insufficiency (disorder) EXACT [SNOMEDCT_2005_07_31:47367009] DOID:13317 hyperinsulinemic hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. [url:http\://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia] persistent hyperinsulinemia hypoglycemia of infancy EXACT [] DOID:13319 lower limb lymph node mast cell malignancy Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:188666005] DOID:1332 Bunyaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. [url:http\://en.wikipedia.org/wiki/Bunyaviridae] DOID:13326 chronic follicular conjunctivitis DOID:13327 anatomical narrow angle borderline glaucoma DOID:13328 diabetic cataract Cataract - diabetic EXACT [SNOMEDCT_2005_07_31:267471001] DOID:13329 toxic optic neuropathy Toxic optic neuropathy [Ambiguous] EXACT [SNOMEDCT_2005_07_31:194053003] DOID:1333 african horse sickness A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf] DOID:13333 hypertrophy of tongue papillae Tongue papillary hypertrophy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196584007] DOID:13335 Toxoplasma hepatitis A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. [url:http\://www.ncbi.nlm.nih.gov/pubmed/7111119] Toxoplasma hepatitis (disorder) EXACT [SNOMEDCT_2005_07_31:187197006] DOID:13336 congenital toxoplasmosis A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh, url:http\://www.who.int/bulletin/volumes/91/7/12-111732.pdf] Toxoplasmosis - congen. EXACT [SNOMEDCT_2005_07_31:268875000] DOID:13338 Toxoplasma myocarditis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. [url:http\://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf] Toxoplasma myocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:187195003] DOID:1334 Reoviridae infectious disease A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. [url:http\://www.expasy.org/viralzone/all_by_species/104.html] Reoviridae disease EXACT [CSP2005:3100-1539] DOID:13341 parasitic conjunctivitis DOID:13342 Toxoplasma pneumonia A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. [url:http\://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8519364] Toxoplasma pneumonitis (disorder) EXACT [SNOMEDCT_2005_07_31:187196002] DOID:13343 ocular toxoplasmosis A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] Toxoplasmosis chorioretinitis (disorder) EXACT [SNOMEDCT_2005_07_31:187194004] DOID:13348 laryngeal cartilage cancer malignant tumor of laryngeal cartilage (disorder) EXACT [SNOMEDCT_2005_07_31:363431006] DOID:1335 bluetongue A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. [url:http\://en.wikipedia.org/wiki/Bluetongue_disease] Soremuzzle RELATED [] DOID:13350 gender identity disorder in children Gender identity disorder of childhood (disorder) EXACT [SNOMEDCT_2005_07_31:5095008] DOID:13351 pedophilia Paedophilia EXACT [SNOMEDCT_2005_07_31:268763002] DOID:13352 ego-dystonic sexual orientation A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. [url:http\://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation] DOID:13353 diffuse interstitial keratitis DOID:13356 senile ectropion Involutional ectropion EXACT [SNOMEDCT_2005_07_31:71659009] DOID:13357 chondromalacia patellae softening of articular cartilage of patella EXACT [MTHICD9_2006:717.7] DOID:13359 Ehlers-Danlos syndrome A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. [url:http\://emedicine.medscape.com/article/1114004-overview, url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.ednf.org/, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.medicinenet.com/ehlers-danlos_syndrome/article.htm, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.ncbi.nlm.nih.gov/pubmed/23711271, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html] elastic skin EXACT [CSP2005:1849-3115] DOID:1336 Nairobi sheep disease A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf] Nairobi sheep virus gastroenteritis EXACT [] DOID:13361 nephrotic syndrome with lesion of proliferative glomerulonephritis Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis EXACT [NCI2004_11_17:C35214] DOID:13364 chronobiology disease DOID:13365 reading disorder A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. [url:http\://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29, url:http\://en.wikipedia.org/wiki/Reading_disability] DOID:13366 Stiff-Person syndrome A movement disease that is of unknown etiology characterized by progressive rigidity. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Stiff_person_syndrome] Stiff-man syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:5217008] DOID:13368 tinea profunda A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. [url:http\://www.doctorfungus.org/mycoses/human/other/tineacorporis_cruris_pedis.htm] Tinea profunda (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:58950002] DOID:13369 tinea manuum A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. [url:http\://en.wikipedia.org/wiki/Tinea_manuum] Tinea manus (disorder) EXACT [SNOMEDCT_2005_07_31:48971001] DOID:13371 scrub typhus A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. [url:http\://en.wikipedia.org/wiki/Scrub_typhus] Typhus fever due to Rickettsia tsutsugamushi RELATED [] DOID:13372 alpha 1-antitrypsin deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. [url:http\://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000120.htm] AAT deficiency EXACT [MTHICD9_2006:273.4] DOID:13374 fibrodysplasia ossificans progressiva .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. [url:http\://emedicine.medscape.com/article/1112501-overview, url:http\://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva, url:http\://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva, url:http\://omim.org/entry/135100, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/, url:http\://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/] Stone Man Syndrome EXACT [] DOID:13375 temporal arteritis Temporal arteritis (disorder) EXACT [SNOMEDCT_2005_07_31:400130008] DOID:13376 congenital aortic insufficiency Congenital insufficiency of aortic valve (disorder) EXACT [SNOMEDCT_2005_07_31:28656008] DOID:13378 Kawasaki disease A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. [url:http\://en.wikipedia.org/wiki/Kawasaki_disease] mucocutaneous lymph node syndrome EXACT [] DOID:1338 congenital dyserythropoietic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [url:http\://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia, url:http\://www.ncbi.nlm.nih.gov/books/NBK5313/] congenital dyshaematopoietic anaemia EXACT [SNOMEDCT_2005_07_31:191272005] DOID:13380 acute pyelonephritis with lesion of renal medullary necrosis DOID:13381 pernicious anemia Biermer's anemia EXACT [MTHICD9_2006:281.0] DOID:13382 megaloblastic anemia A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. [url:http\://en.wikipedia.org/wiki/Megaloblastic_anemia] RH-MGA1 EXACT [] DOID:13386 gastrointestinal anthrax An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, 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, url:http\://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous, url:http\://www.springerlink.com/content/g3575hwr232l4411/] DOID:13387 upper limb cancer malignant tumor of upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:363503004] DOID:13389 labia majora carcinoma Labia Majora cancer EXACT [NCI2004_11_17:C9363] DOID:1339 Diamond-Blackfan anemia A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. [url:http\://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia, url:http\://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia, url:http\://www.cdc.gov/ncbddd/dba/, url:http\://www.omim.org/entry/105650] chronic constitutional pure red cell anaemia EXACT [SNOMEDCT_2005_07_31:188588001] DOID:13397 atypical manic disorder DOID:13398 open angle with borderline glaucoma findings DOID:13399 color blindness A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. [url:http\://en.wikipedia.org/wiki/Color_blindness] Colour vision deficiency EXACT [SNOMEDCT_2005_07_31:53481002] DOID:134 vaginal glandular tumor DOID:1340 pure red-cell aplasia Red cell hypoplasia EXACT [SNOMEDCT_2005_07_31:191253005] DOID:13401 angioid streaks DOID:13402 skin sarcoidosis Cutaneous sarcoidosis (disorder) EXACT [SNOMEDCT_2005_07_31:55941000] DOID:13403 cerebral sarcoidosis Cerebral sarcoidosis (disorder) EXACT [SNOMEDCT_2005_07_31:111936002] DOID:13404 uveoparotid fever Uveoparotid fever EXACT [MTHICD9_2006:135] DOID:13405 cardiac sarcoidosis Cardiac sarcoidosis (disorder) EXACT [SNOMEDCT_2005_07_31:75403004] DOID:13406 pulmonary sarcoidosis lung Sarcoidosis EXACT [NCI2004_11_17:C34997] DOID:13407 hypercalcemic sarcoidosis DOID:13408 metastasis to pleura secondary malignant neoplasm of pleura (disorder) EXACT [SNOMEDCT_2005_07_31:94493005] DOID:13409 perforation of bile duct Perforation of bile duct (disorder) EXACT [SNOMEDCT_2005_07_31:37439003] DOID:1341 congenital anemia Congenital anemia (disorder) EXACT [SNOMEDCT_2005_07_31:63565007] DOID:13413 hepatic encephalopathy Portal-systemic encephalopathy EXACT [MTHICD9_2006:572.2] DOID:13416 diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder EXACT [ICD9CM_2006:250.71] DOID:13417 alexia An agnosia that is a loss of the ability to recognize text. [url:http\://en.wikipedia.org/wiki/Agnosia, url:http\://en.wikipedia.org/wiki/Alexia_%28disorder%29] Aphemesthaesia EXACT [SNOMEDCT_2005_07_31:9236007] DOID:13419 neurogenic bowel DOID:1342 congenital hypoplastic anemia Constitutional aplastic anaemia RELATED [SNOMEDCT_2005_07_31:154808006] DOID:1343 urethritis Nongonococcal urethritis (disorder) EXACT [SNOMEDCT_2005_07_31:84619001] DOID:13431 bejel A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. [url:http\://en.wikipedia.org/wiki/Bejel, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190d.html] Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) EXACT [SNOMEDCT_2005_07_31:186978001] DOID:13444 glanders A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/] Infection due to Pseudomonas mallei EXACT [MTHICD9_2006:024] DOID:13446 basilar artery occlusion DOID:13447 corneal argyrosis Argyrosis of cornea EXACT [SNOMEDCT_2005_07_31:193809002] DOID:13448 posterior corneal pigmentation Posterior corneal pigmentations EXACT [ICD9CM_2006:371.13] DOID:13450 coccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. [url:http\://www.merck.com/mmhe/sec17/ch197/ch197e.html] primary extrapulmonary coccidioidomycosis (disorder) EXACT [SNOMEDCT_2005_07_31:23247008] DOID:13452 scleritis DOID:13453 gonococcal bursitis Gonococcal bursitis (disorder) EXACT [SNOMEDCT_2005_07_31:46699001] DOID:13454 gonococcal synovitis Gonococcal synovitis or tenosynovitis (disorder) EXACT [SNOMEDCT_2005_07_31:266138002] DOID:13459 secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. [url:http\://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh] Syphilis of liver (disorder) EXACT [SNOMEDCT_2005_07_31:86028001] DOID:13461 urethral intrinsic sphincter deficiency Intrinsic (urethral) sphincter deficiency [ISD] EXACT [ICD9CM_2006:599.82] DOID:13468 primary genital syphilis primary genital syphilis (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:58433006] DOID:13469 secondary cutaneous syphilis secondary syphilis of skin or mucus membranes NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186852006] DOID:13470 primary anal syphilis A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. [url:http\://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm, url:http\://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh] primary anal syphilis (disorder) EXACT [SNOMEDCT_2005_07_31:31015008] DOID:13471 secondary syphilitic lymphadenitis secondary syphilitic lymphadenitis EXACT [MTHICD9_2006:091.4] DOID:13473 central pterygium DOID:13474 progressive peripheral pterygium DOID:13476 supraglottis cancer supraglottis EXACT [NCI2004_11_17:C12279] DOID:13477 balanitis xerotica obliterans Penile Lichen Sclerosus EXACT [NCI2004_11_17:C3523] DOID:13480 paranoid type schizophrenia chronic state with acute exacerbation DOID:13481 thanatophoric dysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. [url:http\://emedicine.medscape.com/article/949591-overview, url:http\://en.wikipedia.org/wiki/Thanatophoric_dysplasia, url:http\://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia] DOID:13482 Proteus syndrome Wiedemann's syndrome EXACT [] DOID:13484 disorganized type schizophrenia chronic state DOID:13487 childhood disintegrative disease A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. [url:http\://en.wikipedia.org/wiki/Heller%27s_syndrome, url:http\://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm] Symbiotic psychosis EXACT [SNOMEDCT_2005_07_31:192584009] DOID:13490 active cochleovestibular Meniere's disease Cochleovestibular active Mnire's disease (disorder) EXACT [SNOMEDCT_2005_07_31:8535002] DOID:13491 active vestibular Meniere's disease Vestibular active Mnire's disease (disorder) EXACT [SNOMEDCT_2005_07_31:51003001] DOID:13492 active cochlear Meniere's disease Cochlear active Mnire's disease (disorder) EXACT [SNOMEDCT_2005_07_31:21653008] DOID:13498 urethral syndrome DOID:13499 jejunal cancer malignant tumor of jejunum (disorder) EXACT [SNOMEDCT_2005_07_31:363404008] DOID:135 benign vaginal carcinosarcoma DOID:1350 paranasal sinus neoplasm tumor of Accessory sinus EXACT [NCI2004_11_17:C7488] DOID:13500 hairy tongue Overgrowth of filiform papillae (disorder) EXACT [SNOMEDCT_2005_07_31:255225007] DOID:13501 Mobius syndrome Oromandibular-limb hypogenesis spectrum (disorder) EXACT [SNOMEDCT_2005_07_31:89444000] DOID:13507 trigonitis DOID:13514 venous tributary occlusion of retina Venous tributary branch occlusion of retina EXACT [MTHICD9_2006:362.36] DOID:13515 tuberous sclerosis Tuberous sclerosis syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:7199000] DOID:13518 stiffness of joint Stiffness of joint, not elsewhere classified, involving upper arm EXACT [ICD9CM_2006:719.52] DOID:1352 paranasal sinus disease disorder of nasal sinus EXACT [SNOMEDCT_2005_07_31:7393007] DOID:13520 neonatal infective mastitis DOID:13521 tetanus neonatorum A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. [url:http\://www.doh.gov.za/programmes/polio/nnt.pdf] Tetanus neonatorum (disorder) EXACT [SNOMEDCT_2005_07_31:43424001] DOID:13523 loiasis A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. [url:http\://en.wikipedia.org/wiki/Loiasis] DOID:13526 candidal endocarditis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] Candidal endocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:63553008] DOID:13527 candidal otitis externa A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. [url:http\://en.wikipedia.org/wiki/Moniliasis, url:http\://en.wikipedia.org/wiki/Otomycosis, url:http\://www.aafp.org/afp/2001/0301/p927.html, url:http\://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641] otomycosis in moniliasis EXACT [] DOID:13528 candidal enteritis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. [url:http\://emedicine.medscape.com/article/213853-overview, url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html] intestinal moniliasis EXACT [SNOMEDCT_2005_07_31:187023002] DOID:13533 osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. [url:http\://emedicine.medscape.com/article/123968-overview, url:http\://en.wikipedia.org/wiki/Osteopetrosis] marble bone EXACT [CSP2005:1849-7232] DOID:13534 purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. [url:http\://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh] Suppurative labyrinthitis (disorder) EXACT [SNOMEDCT_2005_07_31:24817009] DOID:13535 intrapelvic lymph node mast cell malignancy Mast cell malignancy of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188667001] DOID:13538 cornea squamous cell carcinoma squamous cell carcinoma of cornea (disorder) EXACT [SNOMEDCT_2005_07_31:255008003] DOID:13543 hyperparathyroidism A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. [url:http\://en.wikipedia.org/wiki/Hyperparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hyperparathyroidism] DOID:13544 low tension glaucoma Normal tension glaucoma EXACT [SNOMEDCT_2005_07_31:50485007] DOID:13548 secondary Parkinson disease Symptomatic parkinsonism (disorder) EXACT [SNOMEDCT_2005_07_31:265377002] DOID:13549 interval angle-closure glaucoma Prodromal angle closure glaucoma EXACT [SNOMEDCT_2005_07_31:65460003] DOID:1355 paranasal sinus lymphoma lymphoma of paranasal sinus EXACT [] DOID:13550 angle-closure glaucoma primary open-angle glaucoma with narrow angles EXACT [SNOMEDCT_2005_07_31:314542007] DOID:13554 gonococcal peritonitis DOID:13555 pharyngeal gonorrhea Gonorrhea of pharynx (disorder) EXACT [SNOMEDCT_2005_07_31:74372003] DOID:13556 gonococcal keratosis Gonococcal keratosis (disorder) EXACT [SNOMEDCT_2005_07_31:60335002] DOID:13558 gonococcal urethritis Gonococcal urethritis (disorder) EXACT [SNOMEDCT_2005_07_31:236682002] DOID:1356 lymphoma by site DOID:13560 subserous uterine fibroid Subserous leiomyoma of uterus (disorder) EXACT [SNOMEDCT_2005_07_31:95280005] DOID:13561 optic disk drusen optic nerve head drusen EXACT [SNOMEDCT_2005_07_31:33629003] DOID:13562 glaucoma associated with pupillary block secondary angle-closure glaucoma with pupil block EXACT [SNOMEDCT_2005_07_31:193561006] DOID:13564 aspergillosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. [url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/, url:http\://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all] Infection due to Aspergillus EXACT [SNOMEDCT_2005_07_31:65553006] DOID:13565 neuroaspergillosis An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. [url:http\://www.ncbi.nlm.nih.gov/pubmed/17377359, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis] DOID:13566 tibial collateral ligament bursitis Tibial collateral ligament bursitis (disorder) EXACT [SNOMEDCT_2005_07_31:44245003] DOID:1357 maxillary sinus cancer malignant tumor of the maxillary sinus EXACT [NCI2004_11_17:C3540] DOID:13573 schizo-affective type schizophrenia chronic state with acute exacerbation DOID:13574 cortical senile cataract Cortical senile cataract EXACT [SNOMEDCT_2005_07_31:78875003] DOID:13575 non-renal secondary hyperparathyroidism DOID:13576 twin-to-twin transfusion syndrome Twin-to-twin blood transfer (disorder) EXACT [SNOMEDCT_2005_07_31:13404009] DOID:13577 ascorbic acid deficiency vitamin C deficiency EXACT [CSP2005:2116-7533] DOID:13579 kwashiorkor Nutritional oedema with dyspigmentation of skin and/or hair EXACT [SNOMEDCT_2005_07_31:58262005] DOID:1358 maxillary sinus neoplasm tumor of Maxillofacial sinus EXACT [NCI2004_11_17:C3219] DOID:13580 cholestasis Obstruction of bile duct EXACT [ICD9CM_2006:576.2] DOID:13581 magnesium deficiency Magnesium deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:238118002] DOID:13582 potassium deficiency potassium deficiency EXACT [CSP2005:1851-4491] DOID:13583 fetal nutrition disorder disorder of fetal nutrition (disorder) EXACT [SNOMEDCT_2005_07_31:363089008] DOID:13585 alveolar periostitis Dry tooth socket EXACT [SNOMEDCT_2005_07_31:196465007] DOID:13589 female infertility of uterine origin Infertility, female, of uterine origin EXACT [ICD9CM_2006:628.3] DOID:13593 eclampsia A pre-eclampsia characterized by the presence of seizures. [PMID:24400024, url:http\://ghr.nlm.nih.gov/condition/preeclampsia] Postpartum eclampsia EXACT [] DOID:136 vaginal carcinosarcoma vaginal mixed epithelial and mesenchymal tumor EXACT [] DOID:1360 frontal sinus cancer malignant tumor of the Frontal sinus EXACT [NCI2004_11_17:C3542] DOID:13601 enteropathogenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. [url:http\://www.textbookofbacteriology.net/e.coli_4.html] intestinal infection due to enteropathogenic E. coli EXACT [ICD9CM_2006:008.01] DOID:13602 acute schizophrenic episode subchronic state DOID:13603 obstructive jaundice Obstructive jaundice NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197452009] DOID:13604 acute schizophrenic episode chronic state with acute exacerbation DOID:13605 acute schizophrenic episode chronic state DOID:13608 biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. [url:http\://en.wikipedia.org/wiki/Biliary_atresia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000215.htm] Congenital biliary atresia (disorder) EXACT [SNOMEDCT_2005_07_31:77480004] DOID:1361 frontal sinus neoplasm tumor of the Frontal sinus EXACT [NCI2004_11_17:C4419] DOID:13619 extrahepatic cholestasis extrahepatic obstructive biliary disease (disorder) EXACT [SNOMEDCT_2005_07_31:8262006] DOID:1362 paranasal sinus sarcoma A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient] sarcoma of Accessory sinus EXACT [NCI2004_11_17:C6849] DOID:13620 patent foramen ovale Persistent ostium secundum (disorder) EXACT [SNOMEDCT_2005_07_31:204318003] DOID:13622 campylobacteriosis A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. [url:http\://en.wikipedia.org/wiki/Campylobacteriosis, url:http\://www.health.state.ny.us/diseases/communicable/campylobacteriosis/fact_sheet.htm] Campylobacteriosis (disorder) EXACT [SNOMEDCT_2005_07_31:86500004] DOID:13623 staphylococcal enterocolitis A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. [url:http\://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001] Staphylococcal enterocolitis (disorder) EXACT [SNOMEDCT_2005_07_31:32527003] DOID:13626 photokeratitis DOID:13628 favism A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency] DOID:13629 dentine erosion DOID:1363 ethmoid sinus cancer malignant tumor of ethmoidal sinus EXACT [NCI2004_11_17:C3541] DOID:13636 Fanconi's anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. [url:http\://en.wikipedia.org/wiki/Fanconi_anemia, url:http\://ghr.nlm.nih.gov/condition/fanconi-anemia, url:http\://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1] Fanconi panmyelopathy EXACT [] DOID:1364 ethmoidal sinus neoplasm tumor of ethmoidal sinus EXACT [NCI2004_11_17:C4416] DOID:13641 exfoliation syndrome Pseudoexfoliation syndrome EXACT [SNOMEDCT_2005_07_31:44219007] DOID:13643 pneumococcal septicemia Streptococcus pneumoniae septicemia EXACT [MTHICD9_2006:038.2] DOID:13644 streptococcal septicemia Streptococcal septicemia, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187330001] DOID:13648 paranoid state DOID:13649 polyneuropathy in collagen vascular disease Polyneuropathy in collagen vascular disease NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193181003] DOID:13650 joint disorder Unspecified joint disorder of multiple sites EXACT [ICD9CM_2006:719.99] DOID:13651 eversion of lacrimal punctum DOID:13653 stenosis of lacrimal punctum DOID:13654 stenosis of lacrimal passage Stenosis of lacrimal canaliculi EXACT [ICD9CM_2006:375.53] DOID:13655 acquired tear duct stenosis Tear duct - acquired stenosis EXACT [SNOMEDCT_2005_07_31:155184002] DOID:13656 gastrin secretion abnormality Gastrin secretion abnormality NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190445005] DOID:13658 infective urethral stricture DOID:13662 ulcer of anus and rectum anal and rectal ulcer NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197227009] DOID:13663 acute suppurative otitis media with tympanic membrane intact A purulent acute otitis media with no perforation of the tympanic membrane. [url:http\://books.google.com/books?id=V3p0FpcwweYC&pg=PA701&lpg#v=onepage&q=&f=false] acute suppurative otitis media without spontaneous rupture of ear drum (disorder) EXACT [SNOMEDCT_2005_07_31:14948001] DOID:13664 post-vaccinal encephalitis Postvaccinal encephalomyelitis (disorder) EXACT [SNOMEDCT_2005_07_31:31367003] DOID:13668 meningococcal encephalitis Meningococcal encephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:18071005] DOID:13670 hypocalcemia and hypomagnesemia of newborn Hypocalcemia and/or hypomagnesemia of newborn (disorder) EXACT [SNOMEDCT_2005_07_31:77604004] DOID:13676 posterior scleritis DOID:13677 SAPHO syndrome Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome EXACT [SNOMEDCT_2005_07_31:203140009] DOID:13679 simple type schizophrenia subchronic state DOID:13680 simple type schizophrenia subchronic state with acute exacerbation DOID:13681 simple type schizophrenia in remission DOID:13682 simple type schizophrenia chronic state DOID:13687 chronic duodenal ileus chronic duodenal ileus (disorder) EXACT [SNOMEDCT_2005_07_31:52232007] DOID:13689 prostate calculus Stone of prostate EXACT [NCI2004_11_17:C26936] DOID:13690 acute gonococcal cystitis Gonococcal cystitis (acute) EXACT [ICD9CM_2006:098.11] DOID:13691 dermoid cyst of skin skin Dermoid EXACT [NCI2004_11_17:C4632] DOID:13693 disorder of ureter Ureteric disease EXACT [NCI2004_11_17:C27148] DOID:13694 unilateral vesicoureteral reflux with reflux nephropathy DOID:13695 bilateral vesicoureteral reflux with reflux nephropathy DOID:13696 vesicoureteral reflux with reflux nephropathy DOID:137 vaginal squamous papilloma A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. [] squamous papilloma of vagina EXACT [NCI2004_11_17:C6374] DOID:13702 postpartum benign essential hypertension DOID:13709 premature ejaculation DOID:1371 uterine corpus adenomatoid tumor uterine corpus localized epithelial Mesothelioma EXACT [] DOID:13711 dental fluorosis Mottling of enamel EXACT [MTHICD9_2006:520.3] DOID:13714 anodontia Total anodontia of permanent and deciduous teeth EXACT [SNOMEDCT_2005_07_31:16958000] DOID:13717 mature cataract Total, mature senile cataract EXACT [SNOMEDCT_2005_07_31:193590000] DOID:13720 Schistosoma mattheei infectious disease A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. [url:http\://en.wikipedia.org/wiki/Schistosomiasis] Infection by Schistosoma mattheii (disorder) EXACT [SNOMEDCT_2005_07_31:38201005] DOID:13722 neuroschistosomiasis A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. [url:http\://www.ajtmh.org/cgi/content/full/76/5/964, url:http\://www.cdc.gov/ncidod/eid/vol12no09/06-0113.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/16138195, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16138195] DOID:13723 Schistosoma bovis infectious disease A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10333324] Infection by Schistosoma bovis (disorder) EXACT [SNOMEDCT_2005_07_31:111920004] DOID:13724 scurvy DOID:13725 beriberi DOID:1373 endometrial stromal nodule DOID:13730 malignant renovascular hypertension DOID:13731 malignant secondary hypertension DOID:13732 panophthalmitis DOID:13734 AIDS-related Pneumocystis jirovecii pneumonia A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm] DOID:13736 uterine inflammatory disease Inflammatory disease of the uterus EXACT [SNOMEDCT_2005_07_31:28783002] DOID:13738 infarct of liver hepatic infarction (disorder) EXACT [SNOMEDCT_2005_07_31:17890003] DOID:13739 nutmeg liver chronic passive congestion of liver (disorder) EXACT [SNOMEDCT_2005_07_31:34736002] DOID:13742 neurofibroma of spinal cord DOID:13743 spinal cord lipoma A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. [] Lipoma of spinal cord (disorder) EXACT [SNOMEDCT_2005_07_31:189017000] DOID:1375 neonatal urinary tract infectious disease urinary tract infection of newborn EXACT [ICD9CM_2006:771.82] DOID:13753 Histoplasma duboisii meningitis An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. [url:http\://www.springerlink.com/content/x0p18824442np761/fulltext.pdf] Histoplasma duboisii with meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:187048004] DOID:13754 Histoplasma capsulatum meningitis An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. [url:http\://www.springerlink.com/content/x0p18824442np761/fulltext.pdf] Histoplasma capsulatum with meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:187038001] DOID:13755 Histoplasma duboisii pericarditis An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. [url:http\://emedicine.medscape.com/article/299054-overview, url:http\://www.ncbi.nlm.nih.gov/pubmed/16924162] Histoplasma duboisii with pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:187050007] DOID:13756 epiphora due to insufficient drainage DOID:13757 excessive tearing Watering eye EXACT [SNOMEDCT_2005_07_31:193982009] DOID:1376 perinatal infectious disease DOID:13760 Pthirus pubis infestation A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. [url:http\://www.cdc.gov/lice/pubic/disease.html] Phthirus/pediculus pubis - pubic lice - crabs (& infestation) EXACT [SNOMEDCT_2005_07_31:154420009] DOID:13762 bovine trypanosomiasis A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16965857] DOID:13763 dourine A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. [url:http\://en.wikipedia.org/wiki/Dourine, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf] Infection by Trypanosoma equiperdum (disorder) EXACT [SNOMEDCT_2005_07_31:15566009] DOID:13767 clonorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. [url:http\://en.wikipedia.org/wiki/Clonorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm] Oriental liver fluke disease EXACT [MTHICD9_2006:121.1] DOID:13768 opisthorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. [url:http\://en.wikipedia.org/wiki/Opisthorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm] Opisthorchiasis (disorder) EXACT [SNOMEDCT_2005_07_31:1059007] DOID:13774 Addison's disease An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. [url:http\://en.wikipedia.org/wiki/Addison%27s_disease] primary hypoadrenalism EXACT [SNOMEDCT_2005_07_31:68588005] DOID:13775 plantar wart A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. [url:http\://en.wikipedia.org/wiki/Plantar_wart] Verruca plantaris (disorder) EXACT [SNOMEDCT_2005_07_31:63440008] DOID:13777 epidermodysplasia verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. [url:http\://emedicine.medscape.com/article/1131981-overview, url:http\://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis] DOID:13778 chancroid A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. [url:http\://en.wikipedia.org/wiki/Chancroid, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001659/] Ulcus molle, skin EXACT [MTHICD9_2006:099.0] DOID:1378 uterine corpus mixed epithelial and mesenchymal tumor DOID:13781 hypermobility syndrome hypermobility syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:85551004] DOID:13787 localized anterior staphyloma Anterior staphyloma, localized EXACT [ICD9CM_2006:379.14] DOID:13788 equatorial staphyloma DOID:13789 staphyloma posticum DOID:13790 acute tympanitis acute myringitis EXACT [SNOMEDCT_2005_07_31:297009] DOID:13791 myringitis bullosa hemorrhagica Bullous myringitis EXACT [ICD9CM_2006:384.01] DOID:13794 anterior scleritis DOID:13799 female breast central part cancer malignant neoplasm of central portion of female breast EXACT [ICD9CM_2006:174.1] DOID:138 vaginal squamous tumor DOID:1380 endometrial cancer A uterine cancer that is located_in tissues lining the uterus. [url:http\://www.cancer.gov/dictionary?CdrID=444987] tumor of Endometrium EXACT [NCI2004_11_17:C3012] DOID:13800 inclusion conjunctivitis A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. [url:https\://www.aarphealthcare.com/galecontent/inclusion-conjunctivitis-1] Paratrachoma RELATED [MTHICD9_2006:077.0] DOID:13801 pharyngoconjunctival fever A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. [url:http\://emedicine.medscape.com/article/1192323-overview, url:http\://en.wikipedia.org/wiki/Pharyngoconjunctival_fever] Pharyngoconjunctival fever EXACT [ICD9CM_2006:077.2] DOID:13809 familial combined hyperlipidemia type IIb hyperlipoproteinemia EXACT [NCI2004_11_17:C34708] DOID:1381 fox fordyce disease Fox-Fordyce disease (disorder) EXACT [SNOMEDCT_2005_07_31:65038009] DOID:13810 familial hypercholesterolemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. [url:http\://en.wikipedia.org/wiki/Familial_hypercholesterolemia] type II hyperlipidemia EXACT [NCI2004_11_17:C34704] DOID:13811 chronic subinvolution of uterus DOID:13812 adhesions of uterus Intrauterine synechiae EXACT [ICD9CM_2006:621.5] DOID:13814 hypoglossal nerve disease disorder of XII nerve EXACT [NCI2004_11_17:C26954] DOID:13817 single episode manic disease moderate degree DOID:13818 single episode manic disorder mild degree DOID:13819 lymphogranuloma venereum A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. [url:http\://emedicine.medscape.com/article/783971-overview#a0104, url:http\://en.wikipedia.org/wiki/Lymphogranuloma_venereum] Strumous bubo EXACT [] DOID:1382 miliaria DOID:13820 congenital pneumonia Congenital pneumonia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:206291009] DOID:13822 tetanic cataract Hypocalcaemic cataract EXACT [SNOMEDCT_2005_07_31:68216000] DOID:13823 parasitic eyelid infestation Parasitic infestation of eyelid EXACT [ICD9CM_2006:373.6] DOID:13825 squamous blepharitis DOID:1383 sweat gland disease DOID:13832 patent ductus arteriosus Patent ductus Botalli EXACT [MTHICD9_2006:747.0] DOID:13837 convergence excess or spasm DOID:13839 extrapyramidal and movement disease DOID:1384 Chlamydia trachomatis urethritis Nongonococcal urethritis due to Chlamydia trachomatis (disorder) EXACT [SNOMEDCT_2005_07_31:246832008] DOID:13844 suppressed lactation - delivered Suppressed lactation, with delivery, with or without mention of antepartum condition EXACT [ICD9CM_2006:676.51] DOID:13845 suppressed lactation DOID:13850 acquired hallux varus Hallux varus - acquired EXACT [SNOMEDCT_2005_07_31:156854000] DOID:1386 abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). [url:http\://en.wikipedia.org/wiki/Abetalipoproteinemia, url:http\://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14] microsomal triglyceride transfer protein deficiency disease EXACT [CSP2005:1849-5137] DOID:13861 scleroperikeratitis Scleritis with corneal involvement EXACT [ICD9CM_2006:379.05] DOID:13862 acute closed-angle glaucoma acute angle-closure glaucoma EXACT [ICD9CM_2006:365.22] DOID:13864 trochlear nerve disease Trochlear nerve disorder, NOS EXACT [SNOMEDCT_2005_07_31:14904006] DOID:13865 facial neuralgia DOID:13866 multiple cranial nerve palsy Multiple cranial nerve palsy (disorder) EXACT [SNOMEDCT_2005_07_31:78152008] DOID:13867 focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. [url:http\://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false] Circumscribed labyrinthitis (disorder) EXACT [SNOMEDCT_2005_07_31:61794006] DOID:13868 hypoactive sexual desire disorder Lack or loss of sexual desire EXACT [SNOMEDCT_2005_07_31:192464008] DOID:13869 psychosexual dysfunction with male orgasmic disease DOID:1387 hypolipoproteinemia Lipoprotein deficiencies RELATED [ICD9CM_2006:272.5] DOID:1388 Tangier disease familial hypoalphalipoproteinemia EXACT [SNOMEDCT_2005_07_31:15346004] DOID:13884 sick sinus syndrome sinus node infection EXACT [] DOID:13887 residual chronic schizophrenia Residual schizophrenia, chronic state EXACT [ICD9CM_2006:295.62] DOID:1389 polyneuropathy Polyneuropathy, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:194530007] DOID:13891 bird fancier's lung An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf] poultry worker's lung EXACT [] DOID:139 squamous cell papilloma squamous cell papilloma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:63451008] DOID:1390 hypobetalipoproteinemia Hypo-beta-lipoproteinemia (disorder) EXACT [SNOMEDCT_2005_07_31:190786004] DOID:13902 white piedra A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/] White piedra (disorder) EXACT [SNOMEDCT_2005_07_31:35586003] DOID:13906 malignant pleural effusion neoplastic pleural effusion (disorder) EXACT [SNOMEDCT_2005_07_31:83270006] DOID:13909 red-green color blindness Reduced red-green discrimination EXACT [SNOMEDCT_2005_07_31:246674000] DOID:1391 Norum disease LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY EXACT [] DOID:13910 red color blindness Protanopia EXACT [MTHICD9_2006:368.51] DOID:13911 achromatopsia A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. [url:http\://en.wikipedia.org/wiki/Achromatopsia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382, url:http\://www.sciencedirect.com/science/article/pii/S0161642009010008] Monochromatism EXACT [MTHICD9_2006:368.54] DOID:13912 acquired color blindness acquired color vision deficiency EXACT [SNOMEDCT_2005_07_31:71676008] DOID:13913 lumbosacral plexus lesion Lumbosacral plexus lesions EXACT [ICD9CM_2006:353.1] DOID:13918 somatization disorder A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. [url:http\://en.wikipedia.org/wiki/Somatization_disorder] Somatisation disorder EXACT [SNOMEDCT_2005_07_31:192431008] DOID:13919 irregular astigmatism DOID:1392 pseudopapilledema DOID:13921 bacterial esophagitis Bacterial esophagitis (disorder) EXACT [SNOMEDCT_2005_07_31:235601001] DOID:13922 eosinophilic esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. [url:http\://en.wikipedia.org/wiki/Eosinophilic_esophagitis] DOID:13923 acute psychogenic paranoid psychosis acute paranoid reaction EXACT [SNOMEDCT_2005_07_31:191679009] DOID:13924 necrotizing ulcerative gingivitis Vincent's infection, any site EXACT [MTHICD9_2006:101] DOID:13929 lacrimal duct obstruction Obstruction of lacrimal ducts EXACT [SNOMEDCT_2005_07_31:95769009] DOID:1393 visual pathway disease DOID:13934 facial paralysis Facial Palsy EXACT [NCI2004_11_17:C26769] DOID:13938 amenorrhea amenia EXACT [CSP2005:4001-0006] DOID:1394 urinary schistosomiasis A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. [url:http\://en.wikipedia.org/wiki/Schistosoma_haematobium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm] Vesical schistosomiasis EXACT [MTHICD9_2006:120.0] DOID:13941 benign paroxysmal positional nystagmus benign paroxysmal positional vertigo EXACT [ICD9CM_2006:386.11] DOID:13942 acute gonococcal salpingitis Gonococcal salpingitis, specified as acute EXACT [ICD9CM_2006:098.17] DOID:13943 acute gonococcal prostatitis Gonococcal prostatitis (acute) EXACT [ICD9CM_2006:098.12] DOID:13945 cadasil DOID:13948 bladder neck obstruction Obstruction of bladder neck or vesicourethral orifice EXACT [MTHICD9_2006:596.0] DOID:13949 interstitial cystitis ulcerative cystitis EXACT [SNOMEDCT_2005_07_31:111409009] DOID:1395 schistosomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001321.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis] DOID:13951 uterine corpus epithelioid leiomyoma DOID:13953 uterine corpus dissecting leiomyoma DOID:13954 mitotically active variant uterine corpus leiomyoma DOID:13955 uterus interstitial leiomyoma Intramural leiomyoma of uterus (disorder) EXACT [SNOMEDCT_2005_07_31:93616000] DOID:13956 uterine corpus myxoid leiomyoma DOID:13957 uterine corpus lipoleiomyoma DOID:13958 uterine corpus bizarre leiomyoma uterine Corpus Symplastic leiomyoma EXACT [NCI2004_11_17:C40167] DOID:13962 peripheral focal retinitis and retinochoroiditis peripheral focal retinitis AND retinochoroiditis (disorder) EXACT [SNOMEDCT_2005_07_31:36535003] DOID:13963 nuclear senile cataract Senile nuclear sclerosis EXACT [ICD9CM_2006:366.16] DOID:13964 Morgagni cataract hypermature cataract EXACT [ICD9CM_2006:366.18] DOID:13969 schizo-affective type schizophrenia subchronic state with acute exacerbation DOID:1397 chronic orbital inflammation chronic inflammation of orbit EXACT [SNOMEDCT_2005_07_31:44729001] DOID:13970 schizo-affective type schizophrenia chronic state DOID:13972 female breast lower-outer quadrant cancer malignant neoplasm of lower-outer quadrant of female breast (disorder) EXACT [SNOMEDCT_2005_07_31:188155002] DOID:13975 metastatic tumor to the brain stem metastatic tumor to the Brainstem EXACT [NCI2004_11_17:C8550] DOID:13976 peptic esophagitis Reflux oesophagitis EXACT [SNOMEDCT_2005_07_31:54856001] DOID:13979 primary pulmonary coccidioidomycosis A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. [url:http\://emedicine.medscape.com/article/297976-overview] desert fever EXACT [CSP2005:1988-4353] DOID:1398 parasitic infectious disease A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071] parasitemia EXACT [] DOID:13980 coccidioidal meningitis A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. [url:http\://emedicine.medscape.com/article/297976-overview] DOID:1399 primary lacrimal atrophy DOID:13994 cleidocranial dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. [url:http\://en.wikipedia.org/wiki/Cleidocranial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, url:http\://www.faces-cranio.org/Disord/CCD.htm, url:http\://www.healthline.com/galecontent/cleidocranial-dysplasia-1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, url:http\://www.umm.edu/ency/article/001589.htm] Marie-Sainton Disease EXACT [] DOID:13995 secondary malignant neoplasm to the small Intestine DOID:13996 small intestine lymphoma small intestinal Lymphoma EXACT [NCI2004_11_17:C4007] DOID:13999 contact blepharoconjunctivitis Contact blepharoconjunctivitis (disorder) EXACT [SNOMEDCT_2005_07_31:10813004] DOID:1400 lacrimal apparatus disease DOID:14000 rubeosis iridis DOID:14001 diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder EXACT [ICD9CM_2006:250.73] DOID:14004 thoracic aortic aneurysm An aortic aneurysm that is located_in the thoracic aorta. [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm, url:http\://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm] DOID:14006 splenic artery aneurysm DOID:14018 alcoholic liver cirrhosis Portal cirrhosis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:197308000] DOID:14019 Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/1172954] DOID:1402 agalactia Failure of lactation, with delivery, with or without mention of antepartum condition EXACT [ICD9CM_2006:676.41] DOID:14021 Tietze's syndrome Tietze's disease (disorder) EXACT [SNOMEDCT_2005_07_31:30128009] DOID:14022 algoneurodystrophy Algoneurodystrophy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:203496006] DOID:14026 folic acid deficiency anemia Megaloblastic anemia due to folate deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:85649008] DOID:14032 malignant parietal pleura tumor primary malignant neoplasm of parietal pleura (disorder) EXACT [SNOMEDCT_2005_07_31:93948004] DOID:14033 malignant visceral pleura tumor primary malignant neoplasm of visceral pleura (disorder) EXACT [SNOMEDCT_2005_07_31:94140004] DOID:14037 aorta atresia An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. [url:https\://secure.ssa.gov/poms.nsf/lnx/0423022540] Congenital atresia and stenosis of aorta EXACT [ICD9CM_2006:747.22] DOID:14038 precocious puberty Sexual precocity NOS EXACT [MTHICD9_2006:259.1] DOID:14039 POEMS syndrome POEMS syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:79268002] DOID:1404 residual stage angle-closure glaucoma Residual stage of angle-closure glaucoma EXACT [ICD9CM_2006:365.24] DOID:14040 autoimmune polyendocrine syndrome An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. [sn:IEDB] Lloyd's syndrome EXACT [SNOMEDCT_2005_07_31:190567009] DOID:14041 endocrine tuberculosis DOID:14042 bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. [url:http\://en.wikipedia.org/wiki/Bipolar_I] DOID:14043 neonatal myasthenia gravis Neonatal myasthenia gravis (disorder) EXACT [SNOMEDCT_2005_07_31:82178003] DOID:14044 rheumatic pericarditis acute rheumatic pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:15676002] DOID:14045 syndrome of infant of a diabetic mother syndrome of infant of diabetic mother (disorder) EXACT [SNOMEDCT_2005_07_31:21584002] DOID:14049 phaeohyphomycosis A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. [url:http\://www.doctorfungus.org/mycoses/human/other/phaeohyphomycosis.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Phaeohyphomycosis/, url:http\://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract] phaehyphomycosis EXACT [] DOID:1405 primary angle-closure glaucoma primary Angle Closure Glaucoma EXACT [NCI2004_11_17:C34640] DOID:14056 rheumatic endocarditis Rheumatic endocarditis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:266227009] DOID:14059 paraurethral gland cancer malignant tumor of the Paraurethral gland EXACT [NCI2004_11_17:C3561] DOID:1406 iritis DOID:14063 acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis EXACT [NCI2004_11_17:C35443] DOID:14066 acute diffuse nephritis acute Diffuse Glomerulonephritis EXACT [NCI2004_11_17:C35587] DOID:14067 Plasmodium falciparum malaria A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria] Plasmodium falciparum malaria, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187504004] DOID:14068 blackwater fever A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. [url:http\://en.wikipedia.org/wiki/Blackwater_fever, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever] Malarial Hemoglobinuria EXACT [NCI2004_11_17:C34426] DOID:14069 cerebral malaria A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. [url:http\://en.wikipedia.org/wiki/Malaria] Malarial encephalitis EXACT [SNOMEDCT_2005_07_31:186799006] DOID:1407 anterior uveitis DOID:14070 vestibular nystagmus Nystagmus associated with disorder of the vestibular system EXACT [ICD9CM_2006:379.54] DOID:14072 neoplastic pregnancy complications DOID:14075 geniculate ganglionitis Geniculate ganglionitis NOS EXACT [MTHICD9_2006:351.1] DOID:14080 glucocorticoid-remediable aldosteronism DOID:14081 toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. [url:http\://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/16448876] Toxic labyrinthitis (disorder) EXACT [SNOMEDCT_2005_07_31:3344003] DOID:14087 epicondylitis A bone inflammation disease that results_in inflammation located_in epicondyle. [url:http\://en.wikipedia.org/wiki/Epicondylitis] tennis elbow RELATED [] DOID:14089 root caries Root caries EXACT [SNOMEDCT_2005_07_31:234975001] DOID:14090 heartwater disease Heartwater (disorder) EXACT [SNOMEDCT_2005_07_31:73896008] DOID:14092 renal artery atheroma renal atherosclerosis EXACT [SNOMEDCT_2005_07_31:155416004] DOID:14095 boutonneuse fever A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [url:http\://en.wikipedia.org/wiki/Boutonneuse_fever, url:http\://www.cdc.gov/otherspottedfever/index.html] South African tick-bite fever (disorder) EXACT [SNOMEDCT_2005_07_31:415561000] DOID:14096 infertility due to extratesticular cause Infertility due to extratesticular causes EXACT [ICD9CM_2006:606.8] DOID:14099 acquired gastric outlet stenosis adult hypertrophic pyloric stenosis EXACT [SNOMEDCT_2005_07_31:155725009] DOID:14107 De Quervain disease Tenosynovitis, de Quervain's EXACT [SNOMEDCT_2005_07_31:156670001] DOID:14108 syphilitic peritonitis DOID:14110 anus cancer A large intestine cancer that is located_in the anus. [url:http\://en.wikipedia.org/wiki/Anus] malignant anal tumor EXACT [NCI2004_11_17:C7379] DOID:14111 median rhomboid glossitis Persistent tuberculum impar (disorder) EXACT [SNOMEDCT_2005_07_31:7522008] DOID:14114 congenital adhesion of tongue Congenital adhesions of tongue (disorder) EXACT [SNOMEDCT_2005_07_31:703000] DOID:14115 toxic shock syndrome A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. [url:http\://emedicine.medscape.com/article/169177-overview, url:http\://en.wikipedia.org/wiki/Toxic_shock_syndrome] TSS EXACT [CSP2005:0368-3426] DOID:14116 multiple symmetric lipomatosis Multiple symmetric lipomatosis EXACT [SNOMEDCT_2005_07_31:254832003] DOID:14117 group A hyperlipidemia Pure hypercholesterolemia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190778004] DOID:14118 familial lipoprotein lipase deficiency mixed hyperglyceridemia EXACT [MTHICD9_2006:272.3] DOID:1412 bacteriuria A urinary system disease which consists of the presence of bacteria in urine. [url:http\://en.wikipedia.org/wiki/Bacteriuria] DOID:14121 blue toe syndrome DOID:14125 abducens nerve neoplasm VIth Cranial nerve tumors EXACT [NCI2004_11_17:C5826] DOID:14130 lateral cystocele DOID:14131 midline cystocele DOID:14133 Masters-Allen syndrome Broad ligament laceration syndrome EXACT [ICD9CM_2006:620.6] DOID:14139 anus lymphoma Lymphoma of anus EXACT [NCI2004_11_17:C5601] DOID:1414 ovarian dysfunction DOID:14140 pulp erosion DOID:14145 malignant anus melanoma malignant melanoma of anus (disorder) EXACT [SNOMEDCT_2005_07_31:276821000] DOID:14146 ureterolithiasis Ureteric stone EXACT [MTHICD9_2006:592.1] DOID:1415 gyrate atrophy Ornithinemia with gyrate atrophy EXACT [SNOMEDCT_2005_07_31:314466003] DOID:14150 spinal cord lymphoma A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=583] spinal cord cancer RELATED [] DOID:14151 spinal cord melanoma melanoma of the Spinal Cord EXACT [NCI2004_11_17:C5158] DOID:14152 spinal cord sarcoma sarcoma of the Spinal Cord EXACT [NCI2004_11_17:C5152] DOID:14155 acute retrobulbar neuritis Retrobulbar neuritis (acute) EXACT [ICD9CM_2006:377.32] DOID:14157 malnutrition of mild degree DOID:14159 obstructive hydrocephalus Obstructive hydrocephalus (disorder) EXACT [SNOMEDCT_2005_07_31:230746009] DOID:14163 metastatic malignant tumor to the anus secondary malignant neoplasm of anus (disorder) EXACT [SNOMEDCT_2005_07_31:94172001] DOID:14165 bilateral hyperactive labyrinth hyperactive labyrinth, bilateral EXACT [ICD9CM_2006:386.52] DOID:1417 choroid disease DOID:14172 rheumatic congestive heart failure Rheumatic heart failure (congestive) EXACT [ICD9CM_2006:398.91] DOID:14174 central neurocytoma Neurolipocytoma EXACT [SNOMEDCT_2005_07_31:128858006] DOID:14175 von Hippel-Lindau disease Von Hippel-Lindau syndrome (VHL) EXACT [NCI2004_11_17:C3105] DOID:14176 selective IgG deficiency disease Selective Immunoglobulin G Subclass deficiency EXACT [NCI2004_11_17:C27024] DOID:14177 congenital hypogammaglobulinemia Congenital hypogammaglobulinemia (finding) EXACT [SNOMEDCT_2005_07_31:267460002] DOID:14178 immunodeficiency with increased IgM DOID:14179 Bruton-type agammaglobulinemia A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [url:http\://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300, url:http\://www.ncbi.nlm.nih.gov/gene/695?, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001307.htm, url:ttp\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300755] X-linked agammaglobulinemia (disorder) EXACT [SNOMEDCT_2005_07_31:65880007] DOID:14181 calcific tendinitis DOID:14182 metastatic tumor to the choroid DOID:14183 alcoholic neuropathy Alcoholic polyneuropathy EXACT [ICD9CM_2006:357.5] DOID:14184 polyneuropathy due to drug DOID:14188 frozen shoulder Adhesive capsulitis of shoulder EXACT [ICD9CM_2006:726.0] DOID:1419 residual schizophrenia subchronic state with acute exacerbation DOID:14190 shared paranoid disease Shared psychotic disorder EXACT [ICD9CM_2006:297.3] DOID:14191 simple paranoid state Paranoid state, simple EXACT [ICD9CM_2006:297.0] DOID:14192 bicipital tenosynovitis DOID:14199 posterior dislocation of lens DOID:14200 diplopia Double vision EXACT [MTHICD9_2006:368.2] DOID:14202 adult dermatomyositis adult onset dermatomyositis (disorder) EXACT [SNOMEDCT_2005_07_31:402425006] DOID:14203 childhood type dermatomyositis Juvenile dermatomyositis EXACT [SNOMEDCT_2005_07_31:201446001] DOID:14213 hypophosphatasia hypophospatasia, childhood EXACT [] DOID:14215 hyperamylasemia DOID:14218 dihydropyrimidine dehydrogenase deficiency A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. [url:http\://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency] thymine-uracilurea EXACT [] DOID:14219 renal tubular acidosis A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. [url:http\://en.wikipedia.org/wiki/Renal_tubular_acidosis, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html] DOID:14221 metabolic syndrome X Metabolic syndrome X (disorder) EXACT [SNOMEDCT_2005_07_31:237602007] DOID:14223 ochronosis Ochronosis (disorder) EXACT [SNOMEDCT_2005_07_31:21924005] DOID:14224 tracheal calcification Calcification of trachea EXACT [SNOMEDCT_2005_07_31:81089005] DOID:14225 acute frontal sinusitis A frontal sinusitis which lasts for less than 4 weeks. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] DOID:14227 azoospermia A male infertility disease characterized by the absence of any measurable level of sperm in semen. [url:http\://en.wikipedia.org/wiki/Azoospermia, url:http\://ghr.nlm.nih.gov/glossary=azoospermia] spermatogenic failure EXACT [] DOID:14228 oligospermia DOID:14230 scleromalacia perforans DOID:14233 orbital cyst DOID:14239 gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting. [url:http\://usgips.com/web/Download/LAMPS%20USCAP2003.pdf] intestinal tularaemia EXACT [SNOMEDCT_2005_07_31:186292001] DOID:14243 chronic perichondritis of pinna A perichondritis of auricle which is persistent and long-lasting. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] chronic pinna perichondritis EXACT [SNOMEDCT_2005_07_31:194195009] DOID:14244 epiphora due to excess lacrimation DOID:14245 cystoid macular retinal degeneration Cystoid macular degeneration of retina EXACT [ICD9CM_2006:362.53] DOID:14247 chronic purulent otitis media A suppurative otitis media which is persistent and long-lasting. [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false] chronic suppurative otitis media EXACT [SNOMEDCT_2005_07_31:232253005] DOID:14248 chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. [url:http\://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false] chronic atticoantral suppurative otitis media EXACT [ICD9CM_2006:382.2] DOID:1425 pyoureter Ureter abscess EXACT [NCI2004_11_17:C35666] DOID:14250 Down syndrome A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. [url:http\://en.wikipedia.org/wiki/Down_syndrome, url:http\://ghr.nlm.nih.gov/condition/down-syndrome, url:http\://www.nichd.nih.gov/health/topics/down/Pages/default.aspx, url:http\://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome] trisomy 21 syndrome EXACT [CSP2005:1254-8068] DOID:14251 vitreoretinal dystrophy Vitreoretinal dystrophies EXACT [ICD9CM_2006:362.73] DOID:14252 dystrophies primarily involving the retinal pigment epithelium DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses DOID:14256 adult-onset Still's disease An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. [url:http\://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease, url:http\://www.mayoclinic.com/health/adult-stills-disease/DS00792, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000450.htm, url:http\://www.stillsdisease.org/, url:http\://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html] adult-onset Still disease EXACT [] DOID:14258 leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93149008] DOID:1426 ureteral disease A urinary system disease that is located_in the ureter. [url:http\://www.nlm.nih.gov/medlineplus/ureteraldisorders.html] DOID:14261 fragile X syndrome An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. [url:http\://en.wikipedia.org/wiki/Fragile_X_syndrome, url:http\://omim.org/entry/300624, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908] MARTIN-BELL SYNDROME EXACT [] DOID:14262 oral candidiasis A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. [url:http\://en.wikipedia.org/wiki/Oral_candidiasis] Thrush, oral EXACT [MTHICD9_2006:112.0] DOID:14263 fits in newborn Seizures in newborn EXACT [MTHICD9_2006:779.0] DOID:14264 benign neonatal seizures A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. [url:http\://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy, url:http\://www.ncbi.nlm.nih.gov/books/NBK32534/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927] benign neonatal convulsions EXACT [] DOID:14265 pulmonary valve insufficiency A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. [url:http\://en.wikipedia.org/wiki/pulmonary_insufficiency] Pulmonic valve regurgitation (disorder) EXACT [SNOMEDCT_2005_07_31:91434003] DOID:14268 sclerosing cholangitis Sclerosing cholangitis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:197443000] DOID:14269 suppurative cholangitis Suppurative cholangitis (disorder) EXACT [SNOMEDCT_2005_07_31:69850007] DOID:1427 disorder of pancreatic internal secretion Unspecified disorder of pancreatic internal secretion EXACT [ICD9CM_2006:251.9] DOID:14270 ascending cholangitis Ascending cholangitis (disorder) EXACT [SNOMEDCT_2005_07_31:26918003] DOID:14271 acute cholangitis acute cholangitis (disorder) EXACT [SNOMEDCT_2005_07_31:6215006] DOID:14272 pericholangitis Pericholangitis (disorder) EXACT [SNOMEDCT_2005_07_31:111373008] DOID:14275 atrophic vulva Atrophy of vulva EXACT [ICD9CM_2006:624.1] DOID:14276 shoulder impingement syndrome Subacromial impingement (disorder) EXACT [SNOMEDCT_2005_07_31:202849001] DOID:14278 arthropathy of the hand Unspecified disorder of hand joint EXACT [ICD9CM_2006:719.94] DOID:1428 endocrine pancreas disease DOID:14283 primary hypertrophic osteoarthropathy Pachydermoperiostosis syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:88220006] DOID:14284 patellofemoral pain syndrome DOID:14286 neurogenic arthropathy Neuropathic arthropathy (& Charcot's) EXACT [SNOMEDCT_2005_07_31:201734004] DOID:14287 brawny scleritis Brawny scleritis (disorder) EXACT [SNOMEDCT_2005_07_31:91612009] DOID:14289 Ebstein anomaly A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. [url:http\://en.wikipedia.org/wiki/Ebstein_anomaly] Ebstein's anomaly of tricuspid valve (disorder) EXACT [SNOMEDCT_2005_07_31:204357006] DOID:14291 LEOPARD syndrome Progressive cardiomyopathic lentiginosis EXACT [] DOID:14292 vulvar dystrophy Dystrophy of vulva EXACT [SNOMEDCT_2005_07_31:51689003] DOID:14305 tuberculous empyema A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. [url:http\://erj.ersjournals.com/cgi/reprint/10/4/942, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema] Tuberculous empyema (& pleural) EXACT [SNOMEDCT_2005_07_31:186184002] DOID:14308 skin epithelioid hemangioma epithelioid hemangioma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254791004] DOID:14311 Norovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm] small round virus enteritis EXACT [] DOID:14312 nontoxic uninodular goiter Non-toxic uninodular goitre EXACT [SNOMEDCT_2005_07_31:154652001] DOID:14313 thyroid nodule Thyroid nodule (disorder) EXACT [SNOMEDCT_2005_07_31:237495005] DOID:14319 pleuropneumonia A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. [url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia] DOID:1432 blindness DOID:14320 generalized anxiety disorder An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] DOID:14323 Marfan syndrome Marfan's syndrome EXACT [SNOMEDCT_2005_07_31:268359006] DOID:14324 Plasmodium malariae malaria A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria] Quartan malaria (disorder) EXACT [SNOMEDCT_2005_07_31:27618009] DOID:14325 mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15105024] Malaria fever by more than one parasite EXACT [MTHICD9_2006:084.5] DOID:14326 avian malaria A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. [url:http\://en.wikipedia.org/wiki/Avian_malaria] Avian malaria (disorder) EXACT [SNOMEDCT_2005_07_31:1498006] DOID:14327 gonococcal pericarditis Gonococcal pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:90428001] DOID:14330 Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. [url:http\://en.wikipedia.org/wiki/Parkinson%27s_disease] Parkinson disease EXACT [] DOID:14332 postencephalitic Parkinson disease Postencephalitic parkinsonism (disorder) EXACT [SNOMEDCT_2005_07_31:19972008] DOID:14336 estrogen excess hyperestrogenism EXACT [ICD9CM_2006:256.0] DOID:14338 Pseudomonal pneumonia A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. [url:http\://en.wikipedia.org/wiki/Pseudomonas_aeruginosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf] Pneumonia due to Pseudomonas (disorder) EXACT [SNOMEDCT_2005_07_31:41381004] DOID:14339 paraphrenia Paraphrenia (disorder) EXACT [SNOMEDCT_2005_07_31:26472000] DOID:14350 suppurative thyroiditis Suppurative thyroiditis EXACT [MTHICD9_2006:245.0] DOID:14351 Riedel's fibrosing thyroiditis Riedel fibrosing thyroiditis EXACT [] DOID:14353 acute thyroiditis acute thyroiditis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190295008] DOID:1436 corneal ectasia DOID:14360 Opisthorchis viverrini infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm] Opisthorchis Viverrini Infection EXACT [NCI2004_11_17:C39295] DOID:14363 congenital syphilitic meningitis Congenital syphilitic meningitis (disorder) EXACT [SNOMEDCT_2005_07_31:6267005] DOID:14365 systemic primary carnitine deficiency disease An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. [url:http\://en.wikipedia.org/wiki/Carnitine_deficiency] renal carnitine transport defect (disorder) EXACT [SNOMEDCT_2005_07_31:21764004] DOID:14374 norwegian scabies A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm] Norwegian Scabies EXACT [NCI2004_11_17:C34855] DOID:14384 parietal lobe neoplasm A cerebrum cancer that is located_in the parietal lobe. [url:http\://en.wikipedia.org/wiki/Parietal_lobe] tumor of Parietal Lobe EXACT [NCI2004_11_17:C5573] DOID:1439 pyuria Pus cells in urine EXACT [SNOMEDCT_2005_07_31:144593007] DOID:14392 thrombophlebitis migrans A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. [url:http\://en.wikipedia.org/wiki/Thrombophlebitis] Thrombophlebitis migrans (disorder) EXACT [SNOMEDCT_2005_07_31:31268005] DOID:14397 protozoal dysentery A dysentery that involves protozoan infection. [url:http\://en.wikipedia.org/wiki/Dysentery] DOID:1440 Machado-Joseph disease An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. [url:http\://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease, url:http\://omim.org/entry/109150, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract] spinocerebellar ataxia type 3 EXACT [] DOID:14400 capillary leak syndrome Capillary leak syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:87730004] DOID:14401 cutis marmorata Cutis marmorata (disorder) EXACT [SNOMEDCT_2005_07_31:26825009] DOID:14402 critical illness polyneuropathy Critical illness polyneuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:230594005] DOID:1441 autosomal dominant cerebellar ataxia A hereditary ataxia that has_material_basis_in autosomal dominant inheritance. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.ncbi.nlm.nih.gov/books/NBK22234/] spinocerebellar ataxia EXACT [] DOID:14413 labyrinthine bilateral reactive loss Loss of labyrinthine reactivity, bilateral EXACT [ICD9CM_2006:386.56] DOID:14415 Legg-Calve-Perthes Disease An osteochondrosis that results_in death and fracture located_in hip joint. [url:http\://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/l/legg_calv_perthes_disease.aspx, url:http\://www.wheelessonline.com/ortho/legg_calve_perthes_disease] pseudocoxalgia EXACT [CSP2005:2715-2772] DOID:14418 dracunculiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. [url:http\://en.wikipedia.org/wiki/Dracunculiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm] Infection by Dracunculus medinensis (disorder) EXACT [SNOMEDCT_2005_07_31:48874008] DOID:14419 Mansonella ozzardi infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] Ozzardian filariasis (disorder) EXACT [SNOMEDCT_2005_07_31:30865009] DOID:1442 Alpers syndrome A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. [url:http\://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm] progressive sclerosing poliodystrophy (disorder) EXACT [SNOMEDCT_2005_07_31:20415001] DOID:14421 Brugia malayi filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. [url:http\://en.wikipedia.org/wiki/Brugia_malayi, url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] Malayan filariasis EXACT [ICD9CM_2006:125.1] DOID:14422 dipetalonemiasis A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. [url:http\://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false] Infection by Dipetalonema perstans (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:40229007] DOID:14423 glossopharyngeal neuralgia Glossopharyngeal neuralgia (disorder) EXACT [SNOMEDCT_2005_07_31:43763009] DOID:14425 secondary malignant neoplasm of intra-abdominal lymph node secondary malignant neoplasm of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:94347008] DOID:14426 secondary malignant neoplasm of intrathoracic lymph node secondary malignant neoplasm of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:94351005] DOID:14427 abnormality of glucagon secretion Glucagon secretion abnormality NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190442008] DOID:1443 cerebral degeneration Brain degeneration EXACT [SNOMEDCT_2005_07_31:267686002] DOID:14433 enterohemorrhagic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. [url:http\://www.textbookofbacteriology.net/e.coli_4.html] Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder) EXACT [SNOMEDCT_2005_07_31:240354007] DOID:14434 enterotoxigenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. [url:http\://www.textbookofbacteriology.net/e.coli_4.html] intestinal infection due to enterotoxigenic E. coli EXACT [ICD9CM_2006:008.02] DOID:14435 chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. [url:http\://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false] DOID:14443 cholinergic urticaria An urticaria induced by sweating. [url:http\://en.wikipedia.org/wiki/Cholinergic_urticaria, url:www.dermnetnz.org/reactions/urticaria.html] DOID:14444 sclerosing keratitis Sclerokeratitis EXACT [SNOMEDCT_2005_07_31:194143001] DOID:14445 chronic closed-angle glaucoma chronic narrow angle glaucoma EXACT [SNOMEDCT_2005_07_31:33647009] DOID:14447 gonadal dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. [url:http\://en.wikipedia.org/wiki/Gonadal_dysgenesis] Gonadal dysgenesis syndrome EXACT [SNOMEDCT_2005_07_31:38804009] DOID:14448 46 XY gonadal dysgenesis A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. [url:http\://en.wikipedia.org/wiki/XY_gonadal_dysgenesis] Pure gonadal dysgenesis 46,XY (disorder) EXACT [SNOMEDCT_2005_07_31:95218005] DOID:14449 mixed gonadal dysgenesis DOID:14450 46 XX gonadal dysgenesis A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. [url:http\://en.wikipedia.org/wiki/XX_gonadal_dysgenesis, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243] DOID:14451 hyperkalemic periodic paralysis hyperkalemic periodic paralysis (disorder) EXACT [SNOMEDCT_2005_07_31:278513006] DOID:14452 hypokalemic periodic paralysis Periodic paralysis I EXACT [SNOMEDCT_2005_07_31:54696002] DOID:14453 farmer's lung An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf, url:http\://www.merriam-webster.com/dictionary/farmer%27s%20lung] Farmers lung EXACT [SNOMEDCT_2005_07_31:266399001] DOID:14456 Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. [url:http\://www.bmj.com/cgi/reprint/1/5644/612.pdf] DOID:14457 Brucella abortus brucellosis A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10790142] DOID:14459 hemangioma of orbit Angioma of the orbit EXACT [NCI2004_11_17:C6245] DOID:14463 cavernous hemangioma of orbit Cavernous Angioma of orbit EXACT [NCI2004_11_17:C4546] DOID:14464 neuroleptic malignant syndrome DOID:14467 drug-induced persisting amnestic disease DOID:14472 hantavirus pulmonary syndrome A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10742726, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome] DOID:14473 adenovirus pneumonia An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. [url:http\://en.wikipedia.org/wiki/Adenovirus_infection, url:http\://virology-online.com/viruses/Adenoviruses3.htm, url:http\://www.ajronline.org/cgi/reprint/186/5/1288.pdf] Pneumonia due to adenovirus EXACT [ICD9CM_2006:480.0] DOID:14474 respiratory syncytial virus pneumonia A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. [url:http\://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false, url:http\://www.cdc.gov/RSV/, url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.htm] Pneumonia due to respiratory syncytial virus (disorder) EXACT [SNOMEDCT_2005_07_31:195881003] DOID:14475 parainfluenzal pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. [url:http\://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false, url:http\://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf] Parainfluenza virus pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:64917006] DOID:14476 SARS coronavirus pneumonia A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. [url:http\://en.wikipedia.org/wiki/SARS, url:http\://www.doh.gov.ph/sars/may16.pdf] SARS-associated coronavirus pneumonia EXACT [] DOID:14477 Cytomegalovirus pneumonia A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000664.htm] Cytomegaloviral pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:7678002] DOID:14482 herpes gestationis Herpes gestationis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:199126002] DOID:14483 chorea gravidarum Chorea gravidarum (disorder) EXACT [SNOMEDCT_2005_07_31:25113000] DOID:14484 sporotrichosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. [url:http\://www.nyhealth.gov/diseases/communicable/sporotrichosis/fact_sheet.htm] DOID:14489 ureteral lymphoma ureteral Lymphoma EXACT [NCI2004_11_17:C6175] DOID:14490 metastasis to the ureter secondary malignant neoplasm of ureter (disorder) EXACT [SNOMEDCT_2005_07_31:94659001] DOID:14491 regional ureteric cancer regional Ureteric carcinoma EXACT [NCI2004_11_17:C9356] DOID:14492 metastatic neoplasm of ureter Ureter metastatic malignant neoplasm EXACT [NCI2004_11_17:C27818] DOID:14495 dumping syndrome Jejunal syndrome EXACT [MTHICD9_2006:564.2] DOID:14497 Wolman disease Xanthomatosis, familial (disorder) EXACT [SNOMEDCT_2005_07_31:238074007] DOID:14498 lipoid proteinosis URBACH-WIETHE DISEASE EXACT [] DOID:14499 Fabry disease Fabry's disease (disorder) EXACT [SNOMEDCT_2005_07_31:16652001] DOID:145 papilledema associated with retinal disorder DOID:14500 fucosidosis Fucosidosis (disorder) EXACT [SNOMEDCT_2005_07_31:64716005] DOID:14501 Sjogren-Larsson syndrome Sjogren-Larsson's syndrome EXACT [SNOMEDCT_2005_07_31:205549003] DOID:14502 cholesterol ester storage disease DOID:14503 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis (disorder) EXACT [SNOMEDCT_2005_07_31:42012007] DOID:14504 Niemann-Pick disease Type A Niemann-Pick Disease EXACT [] DOID:14507 peripheral degeneration of cornea peripheral degenerations of cornea EXACT [ICD9CM_2006:371.48] DOID:14512 candidal paronychia A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. [url:http\://emedicine.medscape.com/article/1090632-overview, url:http\://www.doctorfungus.org/mycoses/human/Candida/Cutaneous_general.htm] Candidiasis of skin and nails NOS (disorder) EXACT [SNOMEDCT_2005_07_31:187018002] DOID:14515 WAGR syndrome A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. [url:http\://en.wikipedia.org/wiki/WAGR_syndrome] Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome EXACT [NCI2004_11_17:C3718] DOID:14518 Idiopathic cysts of iris and ciliary body DOID:14520 adenovirus gastroenteritis An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf] Enteritis due to adenovirus EXACT [ICD9CM_2006:008.62] DOID:14521 cutaneous breast cancer cutaneous breast cancer EXACT [NCI2004_11_17:C28311] DOID:14522 partial arterial retinal occlusion Retinal partial arterial occlusion NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193376004] DOID:14523 Argyll Robertson pupil Atypical Argyll-Robertson pupil EXACT [SNOMEDCT_2005_07_31:21011008] DOID:14524 senile degeneration of brain Senile degeneration of brain (disorder) EXACT [SNOMEDCT_2005_07_31:45864009] DOID:14525 Reye syndrome A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. [PMID:2680560, url:https\://en.wikipedia.org/wiki/Reye_syndrome] Reye's syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:74351001] DOID:14529 external pathological resorption DOID:1453 atrophic glossitis smooth atrophic tongue EXACT [] DOID:14530 syringomyelia and syringobulbia Syringomyelia and syringobulbia (disorder) EXACT [SNOMEDCT_2005_07_31:192894009] DOID:14534 malignant cardiac peripheral nerve sheath neoplasm MPNST of Heart EXACT [NCI2004_11_17:C5367] DOID:14535 malignant cardiac germ cell tumor malignant germ cell tumor of the Heart EXACT [NCI2004_11_17:C5371] DOID:14539 metastasis to heart secondary malignant neoplasm of heart (disorder) EXACT [SNOMEDCT_2005_07_31:94327000] DOID:14542 macular or paramacular focal retinitis and retinochoroiditis DOID:14544 rete testis adenocarcinoma A rete testis neoplasm that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the rete testis EXACT [NCI2004_11_17:C8955] DOID:14545 seminal vesicle adenocarcinoma A male reproductive organ cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] DOID:14546 sphenoidal sinus cancer malignant tumor of Sphenoidal sinus EXACT [NCI2004_11_17:C3543] DOID:14547 sphenoid sinus squamous cell carcinoma Epidermoid carcinoma of the Sphenoidal sinus EXACT [NCI2004_11_17:C6066] DOID:14548 steroid-induced glaucoma - borderline Steroid responders borderline glaucoma EXACT [ICD9CM_2006:365.03] DOID:14549 Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder) EXACT [SNOMEDCT_2005_07_31:89058008] DOID:1455 geographic tongue An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. [url:http\://en.wikipedia.org/wiki/Geographic_tongue] Pityriasis linguae EXACT [SNOMEDCT_2005_07_31:59032001] DOID:14550 root resorption DOID:14555 Foster-Kennedy syndrome DOID:14557 primary pulmonary hypertension A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. [url:http\://en.wikipedia.org/wiki/Pulmonary_hypertension, url:http\://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension] DOID:14558 nontoxic multinodular goiter Non-toxic multinodular goitre EXACT [SNOMEDCT_2005_07_31:154653006] DOID:14559 anaerobic meningitis DOID:1456 glossitis Glossitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:196583001] DOID:14566 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division. [url:http\://en.wikipedia.org/w/index.php?title=Cell_proliferation] cell process disease EXACT [] DOID:1458 postsurgical hypothyroidism Postoperative hypothyroidism (disorder) EXACT [SNOMEDCT_2005_07_31:27059002] DOID:1459 hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone. [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001393/] Thyroid insufficiency EXACT [SNOMEDCT_2005_07_31:190290003] DOID:146 papilledema DOID:1460 atheroembolism of kidney DOID:1461 cholesterol embolism A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. [url:http\://en.wikipedia.org/wiki/Cholesterol_embolism] warfarin blue toe syndrome EXACT [] DOID:1465 Salmonella septicemia Salmonella septicemia (disorder) EXACT [SNOMEDCT_2005_07_31:49786009] DOID:14654 prostatitis DOID:1466 Salmonella infectious disease localized Salmonella infectious disease EXACT [] DOID:14669 acrodysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. [url:http\://children.webmd.com/acrodysostosis, url:http\://en.wikipedia.org/wiki/Acrodysostosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001248.htm, url:http\://www.umm.edu/ency/article/001248.htm] DOID:1467 serous labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. [url:http\://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false] serous labyrinthitis (disorder) EXACT [SNOMEDCT_2005_07_31:41674001] DOID:14670 hypertelorism, microtia, facial clefting syndrome An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. [url:http\://ovidsp.tx.ovid.com/sp-3.11.0a/ovidweb.cgi?QS2=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, url:http\://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_omim&from_uid=11152141, url:http\://www.ncbi.nlm.nih.gov/pubmed/11152141, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213] Hypertelorism-microtia-facial clefting syndrome EXACT [] DOID:14671 multiple intestinal atresia Multiple gastrointestinal atresias (disorder) EXACT [SNOMEDCT_2005_07_31:95472001] DOID:14676 congenital contricting bands DOID:14679 VACTERL association A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. [url:http\://en.wikipedia.org/wiki/VACTERL_association, url:http\://ghr.nlm.nih.gov/condition/vacterl-association, url:http\://omim.org/entry/192350, url:http\://www.cincinnatichildrens.org/health/v/vacterl/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=887, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/486/viewAbstract] VATER syndrome RELATED [] DOID:1468 labyrinthitis A inner ear infectious disease which involves inflammation of the labyrinths. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS] Unspecified labyrinthitis (disorder) EXACT [SNOMEDCT_2005_07_31:194363004] DOID:14680 hereditary inflammatory vasculitis VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES EXACT [] DOID:14681 Silver-Russell syndrome Silver Russell Dwarfism EXACT [] DOID:14683 Binder syndrome binder type maxillonasal dysplasia EXACT [] DOID:14686 Axenfeld-Rieger syndrome An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. [url:http\://en.wikipedia.org/wiki/Axenfeld_syndrome, url:http\://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome] Rieger's anomaly EXACT [SNOMEDCT_2005_07_31:86628002] DOID:14687 diastrophic dysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. [url:http\://emedicine.medscape.com/article/1257787-overview, url:http\://en.wikipedia.org/wiki/Diastrophic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/diastrophic-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK22219/] DOID:1469 single major depressive episode in full remission Single major depressive episode, in full remission (disorder) EXACT [SNOMEDCT_2005_07_31:191606003] DOID:14692 Smith-Lemli-Opitz syndrome Smith-Opitz-Inborn syndrome EXACT [CSP2005:5002-0023] DOID:14693 Clouston syndrome Hidrotic ectodermal dysplasia syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:54209007] DOID:14694 Johanson-Blizzard syndrome An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. [url:http\://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome] Johanson-Blizzard syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:75979009] DOID:14695 galactokinase deficiency A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. [url:http\://en.wikipedia.org/wiki/Galactokinase_deficiency] Galactosemia II EXACT [SNOMEDCT_2005_07_31:18612007] DOID:14699 thrombocytopenia-absent radius syndrome Thrombocytopenia with absent radii (TAR) syndrome EXACT [MTHICD9_2006:287.33] DOID:1470 major depressive disorder An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. [url:http\://en.wikipedia.org/wiki/Major_depressive_disorder] single major depressive episode EXACT [] DOID:14701 propionic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. [url:http\://en.wikipedia.org/wiki/Propionic_acidemia] propionyl-CoA carboxylase deficiency EXACT [] DOID:14702 branchiootorenal syndrome Melnick-Fraser syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:290006] DOID:14705 Pfeiffer syndrome An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. [url:http\://en.wikipedia.org/wiki/Pfeiffer_syndrome, url:http\://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, url:http\://www.faces-cranio.org/Disord/Pfeiffer.htm, url:http\://www.healthline.com/galecontent/pfeiffer-syndrome] acrocephalosyndactylia type V EXACT [] DOID:14711 FG syndrome An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [url:http\://en.wikipedia.org/wiki/FG_syndrome, url:http\://ghr.nlm.nih.gov/condition/fg-syndrome, url:http\://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1] Opitz-Kaveggia syndrome EXACT [] DOID:14717 centronuclear myopathy A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. [url:http\://en.wikipedia.org/wiki/Centronuclear_myopathy, url:http\://ghr.nlm.nih.gov/condition/centronuclear-myopathy] myotubular myopathy EXACT [MTHICD9_2006:359.0] DOID:14720 type I Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 1 (disorder) EXACT [SNOMEDCT_2005_07_31:83470009] DOID:14723 beta-ketothiolase deficiency peroxisomal thiolase deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:238067002] DOID:14725 autosomal dominant microcephaly DOID:14727 dominant cogenital severe sensorineural deafness DOID:14731 Weaver syndrome Weaver-Williams syndrome EXACT [] DOID:14735 hereditary angioedema Hereditary angioneurotic edema (disorder) EXACT [SNOMEDCT_2005_07_31:82966003] DOID:14737 craniofrontonasal syndrome craniofrontonasal dysplasia EXACT [] DOID:14739 progressive high-tone neural deafness DOID:1474 aggressive periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. [url:http\://en.wikipedia.org/wiki/Aggressive_periodontitis] juvenile periodontitis EXACT [CSP2005:0828-4592] DOID:14743 trichorhinophalangeal syndrome type I An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). [url:http\://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract] type III trichorhinophalangeal syndrome EXACT [] DOID:14744 Partington syndrome A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. [PMID:23622180, url:http\://ghr.nlm.nih.gov/condition/partington-syndrome] X-linked Russell-Silver syndrome EXACT [] DOID:14748 Sotos syndrome An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. [url:http\://en.wikipedia.org/wiki/Cerebral_gigantism] cerebral gigantism EXACT [] DOID:14749 methylmalonic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood. [url:http\://ghr.nlm.nih.gov/condition/methylmalonic-acidemia, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002147/] METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B EXACT [] DOID:1475 lymphangioma Congenital lymphangioma EXACT [SNOMEDCT_2005_07_31:189200000] DOID:14753 isovaleric acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. [url:http\://en.wikipedia.org/wiki/Isovaleric_acidemia] Isovaleryl-CoA dehydrogenase deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:87827003] DOID:14755 argininosuccinic aciduria An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. [url:http\://en.wikipedia.org/wiki/Argininosuccinic_aciduria] deficiency of argininosuccinate lyase (disorder) EXACT [SNOMEDCT_2005_07_31:124630007] DOID:14756 autosomal dominant type IV Ehlers-Danlos syndrome DOID:14757 type III Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 3 (disorder) EXACT [SNOMEDCT_2005_07_31:30652003] DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome Ehlers-Danlos syndrome, recessive type 4 (disorder) EXACT [SNOMEDCT_2005_07_31:70610001] DOID:14761 Greig cephalopolysyndactyly syndrome An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. [url:http\://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome, url:http\://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550] polysyndactyly with peculiars skull shape EXACT [] DOID:14762 calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome] SYNOSTOSES, TARSAL, CARPAL AND DIGITAL EXACT [] DOID:14764 Larsen syndrome An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. [url:http\://en.wikipedia.org/wiki/Larsen_syndrome] dominant larsen syndrome EXACT [] DOID:14766 renal agenesis renal aplasia EXACT [] DOID:14768 Saethre-Chotzen syndrome An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. [url:http\://children.webmd.com/saethre-chotzen-syndrome, url:http\://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, url:http\://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome, url:http\://www.faces-cranio.org/Disord/Saethre.htm, url:http\://www.healthline.com/galecontent/saethre-chotzen-syndrome] acrocephalosyndactyly type III RELATED [] DOID:14773 cartilage-hair hypoplasia Metaphyseal chondrodysplasia, McKusick type EXACT [SNOMEDCT_2005_07_31:234421004] DOID:14775 type VI Ehlers-Danlos syndrome Kyphoscoliosis type EXACT [SNOMEDCT_2005_07_31:25606004] DOID:14777 benign familial neonatal epilepsy familial neonatal seizures (disorder) EXACT [SNOMEDCT_2005_07_31:279953009] DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome RELATED [] DOID:14780 KBG syndrome A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome] DOID:14784 olivopontocerebellar atrophy A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. [url:http\://www.ninds.nih.gov/disorders/opca/opca.htm] WADIA-SWAMI SYNDROME EXACT [] DOID:14787 Fryns syndrome DOID:14789 spondyloepiphyseal dysplasia congenita SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT EXACT [] DOID:14791 Leber congenital amaurosis A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. [url:http\://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis] Leber's disease EXACT [CSP2005:5000-0048] DOID:14793 hypohidrotic ectodermal dysplasia A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). [url:http\://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1112/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468] Hypohidrotic X-linked ectodermal dysplasia (disorder) EXACT [SNOMEDCT_2005_07_31:239007005] DOID:14796 Dubowitz Syndrome A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. [url:http\://en.wikipedia.org/wiki/Dubowitz_syndrome] Dubowitz's syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:2593002] DOID:14798 Blount's disease An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. [url:http\://en.wikipedia.org/wiki/Blount%27s_disease, url:http\://www.columbiaortho.org/children/blountsdisease.html, url:http\://www.e-radiography.net/radpath/b/blountsdisease.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001584.htm, url:http\://www.wheelessonline.com/ortho/blounts_disease] familial infantile type osteochondrosis deformans tibiae EXACT [] DOID:1483 gingival disease Gingival disease (disorder) EXACT [SNOMEDCT_2005_07_31:18718003] DOID:1485 cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. [url:http\://en.wikipedia.org/wiki/Cystic_fibrosis, url:http\://ghr.nlm.nih.gov/condition/cystic-fibrosis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cf/] mucoviscidosis EXACT [] DOID:1486 secondary syphilitic chorioretinitis Syphilitic chorioretinitis (secondary) EXACT [ICD9CM_2006:091.51] DOID:1487 secondary syphilitic uveitis Uveitis due to secondary syphilis (disorder) EXACT [SNOMEDCT_2005_07_31:186854007] DOID:1491 corneal anesthesia and hypoesthesia DOID:1492 eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. [url:http\://en.wikipedia.org/wiki/Category\:Diseases_of_the_eye_and_adnexa] DOID:1495 cystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] Unspecified echinococcus granulosus (disorder) EXACT [SNOMEDCT_2005_07_31:187138004] DOID:1496 echinococcosis A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. [url:http\://emedicine.medscape.com/article/178648-overview, url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis] pulmonary echinococcosis EXACT [] DOID:1498 cholera A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what, url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html] Cholera due to Vibrio cholerae EXACT [ICD9CM_2006:001.0] DOID:1499 Vibrio infectious disease vibriosis EXACT [CSP2005:0368-4082] DOID:15 reproductive system disease A disease of anatomical entity that is located_in reproductive system organs. [url:http\://en.wikipedia.org/wiki/Reproductive_system] genital system disease EXACT [] DOID:150 disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. [url:http\://en.wikipedia.org/wiki/Mental_disorder] DOID:1508 candidiasis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. [url:http\://en.wikipedia.org/wiki/Candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] systemic candidiasis EXACT [] DOID:1509 avoidant personality disorder A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. [url:http\://en.wikipedia.org/wiki/Avoidant_personality_disorder] anxious personality disorder EXACT [] DOID:1510 personality disorder A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. [url:http\://www.nlm.nih.gov/medlineplus/personalitydisorders.html] character disorder EXACT [] DOID:1511 residual schizophrenia chronic state with acute exacerbation DOID:1512 chronic gonorrhea of cervix Gonococcal cervicitis, chronic EXACT [ICD9CM_2006:098.35] DOID:1513 chronic cervicitis DOID:1515 mitral valve syphilitic endocarditis Syphilitic endocarditis of mitral valve (disorder) EXACT [SNOMEDCT_2005_07_31:186875004] DOID:1516 syphilitic endocarditis Syphilitic endocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:67391006] DOID:1517 cecal benign neoplasm An intestinal benign neoplasm that is located_in the cecum. [url:http\://en.wikipedia.org/wiki/Cecum] neoplasm of caecum EXACT [SNOMEDCT_2005_07_31:126839008] DOID:1518 cecal disease An intestinal disease located_in the cecum. [url:https\://en.wikipedia.org/wiki/Cecum] disorder of cecum (disorder) EXACT [SNOMEDCT_2005_07_31:128525008] DOID:1519 cecum carcinoma A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] Cecal cancer EXACT [NCI2004_11_17:C3491] DOID:1520 colon carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] Colonic carcinoma EXACT [NCI2004_11_17:C4910] DOID:1521 cecum cancer A large intestine cancer that is located_in the cecum. [url:http\://en.wikipedia.org/wiki/Cecum] malignant tumor of the cecum EXACT [NCI2004_11_17:C9329] DOID:1522 cecum lymphoma Cecal Lymphoma EXACT [NCI2004_11_17:C5515] DOID:1523 colon lymphoma Colonic Lymphoma EXACT [NCI2004_11_17:C4793] DOID:1525 nodular nonsuppurative panniculitis Weber-Christian disease EXACT [MTHICD9_2006:729.30] DOID:1526 panniculitis DOID:1528 penile non-neoplastic disease DOID:1529 penile disease DOID:153 fibroepithelial neoplasm A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. [url:http\://en.wikipedia.org/wiki/Fibroepithelial_neoplasm] Fibroepithelial tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134330009] DOID:1530 male non-neoplastic reproductive system disease DOID:1532 pleural disease A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. [url:http\://chestjournal.chestpubs.org/content/104/1/262.full.pdf+html, url:http\://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000112220, url:http\://en.wikipedia.org/wiki/Pleural_disease] non-neoplastic pleural disease EXACT [] DOID:154 mixed cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue. [url:http\://medical-dictionary.thefreedictionary.com/mixed+neoplasm] mixed tumor, malignant, NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189802003] DOID:1540 parathyroid carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck. [url:http\://en.wikipedia.org/wiki/Parathyroid_gland] parathyroid neoplasm EXACT [CSP2005:2009-6398] DOID:1542 head and neck carcinoma A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. [url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck] carcinoma of the neck EXACT [NCI2004_11_17:C6077] DOID:1543 metastatic neoplasm of parathyroid metastatic tumor of Parathyroid EXACT [NCI2004_11_17:C7827] DOID:155 glandular and epithelial neoplasm DOID:1550 gestational diabetes complicating pregnancy, childbirth, or the puerperium Diabetes mellitus, postpartum EXACT [] DOID:1554 vibratory urticaria DOID:1555 urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. [url:http\://en.wikipedia.org/wiki/Urticaria] DOID:1556 arthus reaction Arthus type urticaria EXACT [SNOMEDCT_2005_07_31:402413008] DOID:1557 hypersensitivity reaction type III disease immune complex disease EXACT [CSP2005:1560-5864] DOID:1558 angioedema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues. [url:http\://en.wikipedia.org/wiki/Angioedema] Quincke's edema EXACT [SNOMEDCT_2005_07_31:82966003] DOID:1561 cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. [url:http\://en.wikipedia.org/wiki/Cognitive_disorder] Organic Mental disorder RELATED [NCI2004_11_17:C34870] DOID:1562 chromoblastomycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005] Mossy foot disease (disorder) EXACT [SNOMEDCT_2005_07_31:252402000] DOID:1563 dermatomycosis A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. [url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004] DOID:1564 fungal infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. [url:http\://en.wikipedia.org/wiki/Mycoses] mycosis EXACT [] DOID:1568 calculus of gallbladder and bile duct with acute and chronic cholecystitis calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction EXACT [] DOID:1569 mechanical ectropion DOID:157 epithelial carcinoma A carcinoma that derives_from the cells that line an organ. [url:http\://www.cancer.gov/dictionary/?CdrID=46422] tumor of surface epithelium (disorder) EXACT [SNOMEDCT_2005_07_31:254649008] DOID:1570 ectropion Everted margin EXACT [SNOMEDCT_2005_07_31:127559009] DOID:1571 spastic ectropion DOID:1572 normal pressure hydrocephalus Normal pressure hydrocephalus (disorder) EXACT [SNOMEDCT_2005_07_31:30753002] DOID:1573 communicating hydrocephalus Communicating hydrocephalus (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:59013007] DOID:1574 alcohol abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. [url:http\://en.wikipedia.org/wiki/Alcohol_abuse] Ethanol abuse EXACT [SNOMEDCT_2005_07_31:304606004] DOID:1575 rheumatic disease A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] DOID:1577 limited scleroderma systemic sclerosis, limited EXACT [SNOMEDCT_2005_07_31:128459005] DOID:1578 pulmonary systemic sclerosis lung involvement in systemic sclerosis EXACT [ICD9CM_2006:517.2] DOID:1579 respiratory system disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. [url:http\://en.wikipedia.org/wiki/File\:Respiratory_system_complete_en.svg, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system] DOID:1580 diffuse scleroderma systemic sclerosis, diffuse (disorder) EXACT [SNOMEDCT_2005_07_31:128460000] DOID:1583 laryngeal tuberculosis A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. [url:http\://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf, url:http\://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607, url:http\://www.springerlink.com/content/58281g77v7054641/fulltext.pdf] DOID:1584 acute chest syndrome A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. [url:http\://en.wikipedia.org/wiki/Acute_chest_syndrome, url:http\://www.rcjournal.com/contents/03.04/03.04.0263.pdf] acute chest syndrome in sickle cell disease EXACT [SNOMEDCT_2005_07_31:372146004] DOID:1585 rheumatic pneumonia Rheumatic pneumonia (disorder) EXACT [SNOMEDCT_2005_07_31:7548000] DOID:1586 rheumatic fever RhF - Rheumatic fever EXACT [SNOMEDCT_2005_07_31:274095001] DOID:1587 thrombocytopenia due to platelet alloimmunization Thrombocytopenia Due to Immune Destruction EXACT [NCI2004_11_17:C3991] DOID:1588 thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood. [url:http\://en.wikipedia.org/wiki/Thrombocytopenia, url:http\://ghr.nlm.nih.gov/glossary=thrombocytopenia, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html] DOID:159 mesothelial neoplasm Mesothelial tumor morphology (qualifier value) EXACT [SNOMEDCT_2005_07_31:134332001] DOID:1591 renovascular hypertension Renovascular hypertension (disorder) EXACT [SNOMEDCT_2005_07_31:123799005] DOID:1592 secondary malignant neoplasm of retroperitoneum and peritoneum secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188447003] DOID:1593 metastasis to the peritoneum secondary malignant neoplasm of the peritoneum (disorder) EXACT [SNOMEDCT_2005_07_31:94627008] DOID:1595 endogenous depression A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. [url:http\://en.wikipedia.org/wiki/Endogenous_depression] unipolar depression EXACT [] DOID:1596 mental depression DOID:1597 single episode mild major depression Single major depressive episode, mild (disorder) EXACT [SNOMEDCT_2005_07_31:191601008] DOID:1599 single episode moderate major depression Single major depressive episode, moderate (disorder) EXACT [SNOMEDCT_2005_07_31:191602001] DOID:16 integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. [url:http\://en.wikipedia.org/wiki/Integumentary_system] DOID:1602 lymphadenitis Lymphadenitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:287688007] DOID:1607 hypoglycemic coma Hypoglycemic coma NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190430003] DOID:161 keratosis A skin disease characterized_by growth of keratin on the skin or mucous membranes. [url:https\://en.wikipedia.org/wiki/Keratosis] DOID:1612 breast cancer A thoracic cancer that originates in the mammary gland. [url:http\://en.wikipedia.org/wiki/Breast_cancer, url:http\://en.wikipedia.org/wiki/Mammary, url:http\://www.cancer.gov/cancertopics/types/breast, url:http\://www.nlm.nih.gov/medlineplus/breastcancer.html] primary breast cancer EXACT [] DOID:1614 male breast cancer neoplasm of male breast (disorder) EXACT [SNOMEDCT_2005_07_31:126937006] DOID:1616 benign eccrine breast spiradenoma benign Eccrine breast Spiradenoma EXACT [NCI2004_11_17:C5193] DOID:1618 breast fibroadenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. [url:http\://en.wikipedia.org/wiki/Fibroadenoma, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007216.htm] juvenile fibroadenoma of breast EXACT [] DOID:162 cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. [stedman:rlc, url:http\://en.wikipedia.org/wiki/cancer, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer] primary cancer EXACT [] DOID:1620 breast fibroepithelial tumor DOID:1623 breast leiomyoma DOID:1624 breast soft tissue tumor DOID:1625 breast adenoma Ademoma - breast EXACT [SNOMEDCT_2005_07_31:269640007] DOID:1626 breast duct papilloma papilloma of the breast EXACT [NCI2004_11_17:C3863] DOID:1627 intraductal papilloma Intraductal papilloma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:5244003] DOID:1628 intraductal papillary breast neoplasm DOID:1629 breast myofibroblastoma DOID:163 mucoepidermoid tumor Mucoepidermoid tumor [obs] EXACT [SNOMEDCT_2005_07_31:39892006] DOID:1631 benign breast phyllodes tumor Phyllodes tumor, benign (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:16566002] DOID:1634 breast papillomatosis papillomatosis of the breast EXACT [NCI2004_11_17:C6977] DOID:1637 breast angiomatosis DOID:1638 central nervous system tuberculosis An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] tuberculous abscess of brain EXACT [] DOID:1639 skeletal tuberculosis An extrapulmonary tuberculosis that results in formation of lesions located_in bone. [url:http\://en.wikipedia.org/wiki/Bone_Tuberculosis] osteoarticular tuberculosis EXACT [] DOID:164 cystic, mucinous, and serous neoplasm cystic, mucinous and serous tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134320000] DOID:1641 benign breast adenomyoepithelioma benign Adenomyoepithelioma of the breast EXACT [NCI2004_11_17:C5144] DOID:1642 breast adenomyoepithelioma A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. [url:http\://www.ajronline.org/cgi/content/full/180/3/799] malignant adenomyoepithelioma of breast EXACT [] DOID:1647 female breast upper-inner quadrant cancer malignant neoplasm of upper-inner quadrant of female breast (disorder) EXACT [SNOMEDCT_2005_07_31:188152004] DOID:1649 female breast lower-inner quadrant cancer malignant neoplasm of lower-inner quadrant of female breast (disorder) EXACT [SNOMEDCT_2005_07_31:188153009] DOID:1650 female breast axillary tail cancer malignant neoplasm of axillary tail of female breast (disorder) EXACT [SNOMEDCT_2005_07_31:188156001] DOID:1657 ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. [url:http\://en.wikipedia.org/wiki/Ventricular_septal_defect, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html] Ventricular septal abnormality EXACT [SNOMEDCT_2005_07_31:253549006] DOID:1659 supratentorial cancer A brain cancer that is located_in the supratentorial region. [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli] malignant Supratentorial tumor EXACT [NCI2004_11_17:C4964] DOID:166 melanotic neuroectodermal tumor Pigmented neuroectodermal tumour of infancy EXACT [SNOMEDCT_2005_07_31:404042005] DOID:1660 malignant pineal area germ cell neoplasm Pineal Region germ cell tumor EXACT [NCI2004_11_17:C4659] DOID:1661 malignant intracranial germ cell neoplasm DOID:1664 pineoblastoma A pineal gland neoplasm located_in the brain. [url:http\://en.wikipedia.org/wiki/Pinealoblastoma, url:http\://www.answers.com/topic/pineoblastoma] Pineal PNET EXACT [NCI2004_11_17:C9344] DOID:1665 central nervous system embryonal cancer An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. [url:http\://www.cancer.gov/cancertopics/childCNSembryonal] embryonal tumor of the CNS EXACT [NCI2004_11_17:C6990] DOID:1666 hip enthesopathy Hip enthesopathy, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:202862002] DOID:1667 peripheral enthesopathy DOID:1670 Behcet's syndrome arthropathy Behcet syndrome arthropathy EXACT [] DOID:1672 spontaneous tension pneumothorax DOID:1673 pneumothorax DOID:1677 low implantation of placenta DOID:1678 chronic interstitial cystitis DOID:1679 cystitis DOID:1680 chronic cystitis DOID:1681 heart septal defect Septal defect NOS (disorder) EXACT [SNOMEDCT_2005_07_31:287081002] DOID:1682 congenital heart disease Heart-congenital defect RELATED [SNOMEDCT_2005_07_31:156911006] DOID:1685 glaucoma associated with vascular disorder DOID:1686 glaucoma DOID:1687 neovascular glaucoma secondary angle-closure glaucoma with rubeosis EXACT [SNOMEDCT_2005_07_31:314785001] DOID:169 neuroendocrine tumor An endocrine gland cancer that has_material_basis_in neuroendocrine cells. [url:http\://en.wikipedia.org/wiki/Neuroendocrine_cell, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] neuroendocrine neoplasm EXACT [SNOMEDCT_2005_07_31:128928004] DOID:1695 congenital ichthyosis Ichthyosis congenita NOS (disorder) EXACT [SNOMEDCT_2005_07_31:268283000] DOID:1697 ichthyosis ichthyoses EXACT [] DOID:1699 congenital ichthyosiform erythroderma nonbullous congenital ichthyosiform erythroderma EXACT [] DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system. [url:http\://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders] DOID:170 endocrine gland cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. [url:http\://en.wikipedia.org/wiki/Endocrine_system] neoplasm of endocrine system (disorder) EXACT [SNOMEDCT_2005_07_31:387927001] DOID:1700 X-linked ichthyosis X-linked recessive ichthyosis EXACT [SNOMEDCT_2005_07_31:205552006] DOID:1701 steroid inherited metabolic disorder A lipid metabolism disorder that involves defects in steroid metabolism. [url:http\://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism, url:http\://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140] DOID:1702 ichthyosis vulgaris Dominant congenital ichthyosiform erythroderma (disorder) EXACT [SNOMEDCT_2005_07_31:20512000] DOID:1703 Richter's syndrome Richter syndrome EXACT [] DOID:1709 rickettsiosis tick-borne rickettsiosis EXACT [] DOID:171 neuroectodermal tumor primitive Neuroectodermal neoplasm EXACT [NCI2004_11_17:C3716] DOID:1712 aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. [url:http\://en.wikipedia.org/wiki/Aortic_valve_stenosis] rheumatic aortic valve stenosis EXACT [] DOID:1713 benign shuddering attacks DOID:172 clear cell acanthoma Pale (Clear cell) acanthoma EXACT [NCI2004_11_17:C4085] DOID:1724 duodenal ulcer Stress ulcer NOS EXACT [SNOMEDCT_2005_07_31:196681007] DOID:1725 peritoneum cancer An organ system cancer that is located in the peritoneum. [url:http\://en.wikipedia.org/wiki/Peritoneal_cancer] peritoneal neoplasm RELATED [] DOID:1726 partial of retinal vein occlusion Partial Retinal Vein Occlusion EXACT [NCI2004_11_17:C35341] DOID:1727 retinal vein occlusion Retinal vein occlusion EXACT [SNOMEDCT_2005_07_31:46085004] DOID:1729 retinal vascular occlusion Unspecified retinal vascular occlusion (disorder) EXACT [SNOMEDCT_2005_07_31:193373007] DOID:173 eccrine sweat gland neoplasm Eccrine tumor EXACT [NCI2004_11_17:C6796] DOID:1730 histoplasmosis pneumonia A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. [url:http\://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm, url:http\://www.jstor.org/stable/pdfplus/4547765.pdf, url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] Pneumonia with histoplasmosis (disorder) EXACT [SNOMEDCT_2005_07_31:195905006] DOID:1731 histoplasmosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. [url:http\://www.cdc.gov/niosh/hi97146.html] reticuloendotheliosis EXACT [CSP2005:0427-8963] DOID:1733 cryptosporidiosis A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm] intestinal cryptosporidiosis EXACT [ICD9CM_2006:007.4] DOID:1734 viral gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1] DOID:1737 duodenal benign neoplasm neoplasm of the duodenum EXACT [NCI2004_11_17:C2995] DOID:1738 small intestine leiomyoma leiomyoma, small Bowel EXACT [NCI2004_11_17:C7725] DOID:174 acanthoma DOID:1741 drug-induced psychotic disease with delusion DOID:1742 drug psychosis Drug-induced psychotic disorder EXACT [ICD9CM_2006:292.1] DOID:1744 malignant lymphatic vessel tumor neoplasm of the Lymphatic Vessel EXACT [NCI2004_11_17:C3723] DOID:1748 conjunctiva squamous cell carcinoma squamous cell carcinoma of conjunctiva (disorder) EXACT [SNOMEDCT_2005_07_31:255003007] DOID:1749 squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells. [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma, url:http\://www.medicinenet.com/skin_cancer/page2.htm] squamous cell Epithelioma EXACT [NCI2004_11_17:C8999] DOID:175 vascular cancer A cardiovascular cancer that is located_in blood vessels. [url:http\://en.wikipedia.org/wiki/Vascular] vascular tumors EXACT [NCI2004_11_17:C7388] DOID:1751 malignant conjunctiva melanoma malignant melanoma of conjunctiva (disorder) EXACT [SNOMEDCT_2005_07_31:255004001] DOID:1752 ocular melanoma An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. [url:http\://www.cancer.gov/dictionary?CdrID=269467] melanoma of eye EXACT [NCI2004_11_17:C8562] DOID:1754 mitral valve stenosis A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. [url:http\://en.wikipedia.org/wiki/Mitral_valve_stenosis] Mitral stenosis EXACT [SNOMEDCT_2005_07_31:194725005] DOID:1756 facial nerve disease DOID:1757 facial hemiatrophy PARRY-ROMBERG SYNDROME EXACT [] DOID:1758 Histoplasma capsulatum pneumonia An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. [url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] DOID:1759 American histoplasmosis A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16940867] DOID:176 cardiovascular cancer An organ system cancer that located_in the heart and blood vessels. [url:http\://www.cancer.gov/dictionary?CdrID=44005, url:http\://www.healthcentral.com/heart-disease/h/cardiovascular-cancer.html] Cardiovascular tumors EXACT [NCI2004_11_17:C4784] DOID:1760 facial nerve neoplasm tumor of Facial nerve EXACT [NCI2004_11_17:C5827] DOID:1761 Melkersson-Rosenthal syndrome Melkersson's syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:37770007] DOID:1762 cheilitis A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. [url:http\://en.wikipedia.org/wiki/Cheilitis] DOID:1766 factitious disorder A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. [url:http\://en.wikipedia.org/wiki/Factitious_disorder, url:http\://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx] Munchausen syndrome EXACT [] DOID:1768 conversion disorder A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. [url:http\://en.wikipedia.org/wiki/Conversion_disorder] Hysterical neurosis, conversion type EXACT [SNOMEDCT_2005_07_31:89239005] DOID:1770 toxic megacolon Toxic megacolon (disorder) EXACT [SNOMEDCT_2005_07_31:28536002] DOID:1776 labyrinthine unilateral reactive loss Unilateral loss of labyrinthine reactivity (disorder) EXACT [SNOMEDCT_2005_07_31:43000004] DOID:1777 unilateral hyperactive labyrinth Unilateral hyperactive labyrinth (disorder) EXACT [SNOMEDCT_2005_07_31:111542008] DOID:178 vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. [url:http\://en.wikipedia.org/wiki/Vascular_disease] vascular tissue disease EXACT [] DOID:1781 thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. [url:http\://en.wikipedia.org/wiki/Thyroid_gland] thyroid neoplasm EXACT [MTH:NOCODE] DOID:1785 pituitary cancer An endocrine gland cancer located_in the pituitary gland located at the base of the brain. [url:http\://en.wikipedia.org/wiki/Pituitary_gland] pituitary neoplasm EXACT [CSP2005:2006-7421] DOID:1786 adrenal rest tumor Adrenal Rest neoplasm EXACT [NCI2004_11_17:C2860] DOID:1787 pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. [url:http\://en.wikipedia.org/wiki/Pericarditis] DOID:1788 peritoneal mesothelioma A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. [url:http\://en.wikipedia.org/wiki/Mesothelioma] malignant mesothelioma of peritoneum EXACT [SNOMEDCT_2005_07_31:187806007] DOID:1789 benign peritoneal mesothelioma Mesothelioma of Peritoneum EXACT [NCI2004_11_17:C7633] DOID:1790 malignant mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue. [url:http\://cancergenome.nih.gov/cancersselected/Mesothelioma, url:http\://en.wikipedia.org/wiki/Mesothelioma, url:http\://www.cancer.gov/dictionary?CdrID=44323, url:http\://www.merriam-webster.com/medlineplus/mesothelioma] malignant tumor of Mesothelium EXACT [NCI2004_11_17:C4456] DOID:1791 peritoneal carcinoma A carcinoma that is located_in the inside of the abdomen. [url:http\://www.cancerhelp.org.uk/about-cancer/cancer-questions/primary-peritoneal-carcinoma] primary peritoneal carcinoma EXACT [] DOID:1792 pancreas lymphoma Lymphoma of pancreas EXACT [NCI2004_11_17:C5714] DOID:1793 pancreatic cancer An endocrine gland cancer located_in the pancreas. [url:http\://en.wikipedia.org/wiki/Pancreatic] pancreatic tumor EXACT [NCI2004_11_17:C3305] DOID:1795 tumor of exocrine pancreas tumor of exocrine pancreas (disorder) EXACT [SNOMEDCT_2005_07_31:254604005] DOID:1796 pancreas sarcoma A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20pancreas&c=pc&ss=] sarcoma of pancreas EXACT [NCI2004_11_17:C5715] DOID:1798 pancreatic endocrine carcinoma An islet cell tumor that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] pancreatic neuroendocrine carcinoma EXACT [NCI2004_11_17:C3770] DOID:1799 islet cell tumor A pancreatic cancer that is located_in the pancreatic islet cells. [url:http\://en.wikipedia.org/wiki/Islets_of_Langerhans, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor] pancreatic Endocrine neoplasm EXACT [NCI2004_11_17:C27031] DOID:18 urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. [url:http\://en.wikipedia.org/wiki/Urinary_system] urinary tract disease EXACT [] DOID:180 ossifying fibroma A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. [url:http\://en.wikipedia.org/wiki/Ossifying_fibroma] peripheral ossifying fibroma RELATED [] DOID:1800 neuroendocrine carcinoma A carcinoma that derives_from neuroendocrine cells. [url:http\://www.carcinomatype.com/what-is-neuroendocrine-carcinoma.html] DOID:1801 secondary malignant neoplasm to the pancreas secondary malignant neoplasm of pancreas (disorder) EXACT [SNOMEDCT_2005_07_31:94459006] DOID:1802 mononeuritis (Mononeuritis of unspecified site NOS) or (hereditary or idiopathic peripheral neuropathy) EXACT [SNOMEDCT_2005_07_31:193155002] DOID:1803 neuritis peripheral neuritis (disorder) EXACT [SNOMEDCT_2005_07_31:128192007] DOID:1804 coxsackie pericarditis A coxsackie carditis that results_in inflammation located_in pericardium, 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 acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] DOID:1805 coxsackie carditis An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. [url:http\://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v=, url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] Enterovirus heart infection (disorder) EXACT [SNOMEDCT_2005_07_31:46397005] DOID:1806 coxsackie endocarditis A coxsackie carditis that results_in inflammation located_in endocardium, 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. [url:http\://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false] DOID:1811 reflex sympathetic dystrophy DOID:182 calcinosis A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. [url:http\://en.wikipedia.org/wiki/Calcinosis] Pathologically calcified structure EXACT [SNOMEDCT_2005_07_31:18115005] DOID:1822 secondary lacrimal atrophy DOID:1823 petit mal status Petit mal status, epileptic EXACT [ICD9CM_2006:345.2] DOID:1824 status epilepticus (Grand mal status) or (status epilepticus) EXACT [SNOMEDCT_2005_07_31:192998006] DOID:1825 childhood absence epilepsy A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. [url:http\://en.wikipedia.org/wiki/Childhood_absence_epilepsy] pyknolepsy EXACT [] DOID:1826 epilepsy syndrome A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. [url:http\://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false, url:http\://www.merriam-webster.com/medlineplus/epilepsy] epileptic syndrome EXACT [] DOID:1827 idiopathic generalized epilepsy An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Generalized_epilepsy] Generalised epilepsy EXACT [SNOMEDCT_2005_07_31:192994008] DOID:1829 urethral stricture DOID:1832 Mild hyperemesis gravidarum Mild hyperemesis gravidarum, delivered EXACT [] DOID:1835 mononeuritis multiplex Mononeuritis multiplex (disorder) EXACT [SNOMEDCT_2005_07_31:30292005] DOID:1837 diabetic ketoacidosis ketosis-prone diabetes mellitus EXACT [] DOID:1838 Menkes disease steely hair syndrome EXACT [CSP2005:1849-5365] DOID:184 bone cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. [url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone, url:http\://www.cancer.gov/cancertopics/types/bone, url:http\://www.wrongdiagnosis.com/b/bone_cancer/intro.htm] osseous tumor EXACT [NCI2004_11_17:C9343] DOID:1844 mononeuritis of upper limb Mononeuritis upper limb NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193143008] DOID:1845 Strongylida infectious disease A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. [url:http\://en.wikipedia.org/wiki/Strongylida] DOID:1849 cannabis dependence A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Cannabis_dependence] DOID:1852 intrahepatic cholestasis intrahepatic cholestasis of pregnancy EXACT [] DOID:1856 cherubism DOID:1858 McCune Albright syndrome An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. [url:http\://emedicine.medscape.com/article/923026-overview, url:http\://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome, url:http\://ghr.nlm.nih.gov/condition/mccune-albright-syndrome, url:http\://www.nichd.nih.gov/health/topics/mccune_albright_syndrome.cfm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001217.htm, url:http\://www.umm.edu/ency/article/001217.htm] polyostotic fibrous dysplasia EXACT [] DOID:1862 jaw cancer A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. [url:http\://www.buzzle.com/articles/jaw-cancer-symptoms.html] neoplasm of jaw (disorder) EXACT [SNOMEDCT_2005_07_31:126634001] DOID:1863 skull cancer DOID:1866 giant cell reparative granuloma central giant cell reparative granuloma of jaw (disorder) EXACT [SNOMEDCT_2005_07_31:15350006] DOID:1869 chronic rheumatic pericarditis chronic rheumatic pericarditis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194723003] DOID:1873 abortion complicated by metabolic disorder DOID:1875 impotence Sexual impotence (finding) EXACT [SNOMEDCT_2005_07_31:23781003] DOID:1876 sexual dysfunction abnormal sexual function (finding) EXACT [SNOMEDCT_2005_07_31:56925008] DOID:1882 atrial heart septal defect interauricular septal defect EXACT [] DOID:1883 hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. [url:http\://www.cdc.gov/hepatitis/HCV/index.htm, url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] Viral hepatitis C EXACT [] DOID:1884 viral hepatitis A hepatitis that involves viral infection causing inflammation of the liver. [url:http\://www.cdc.gov/HEPATITIS/] Viral hepatitis with hepatic coma (disorder) EXACT [SNOMEDCT_2005_07_31:40946000] DOID:1886 Flaviviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. [url:http\://en.wikipedia.org/wiki/Flaviviridae] DOID:1891 optic nerve disease A cranial nerve disease that is located_in the optic nerve. [url:http\://www.academy.org.uk/lectures/barnard3.htm, url:http\://www.nature.com/eye/journal/v18/n11/full/6701575a.html] optic neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:312964007] DOID:1893 eczematous dermatitis of eyelid DOID:1894 noninfectious dermatoses of eyelid Noninfectious dermatosis of eyelid EXACT [SNOMEDCT_2005_07_31:111524003] DOID:1895 allergic contact dermatitis of eyelid Contact and allergic dermatitis of eyelid EXACT [ICD9CM_2006:373.32] DOID:1896 sigmoid neoplasm tumor of sigmoid colon (disorder) EXACT [SNOMEDCT_2005_07_31:254581007] DOID:1897 sigmoid disease DOID:1901 vagina sarcoma sarcoma of the vagina EXACT [NCI2004_11_17:C7737] DOID:1906 malignant skin fibrous histiocytoma vaginal melanoma EXACT [NCI2004_11_17:C5576] DOID:1907 malignant fibroxanthoma MFH EXACT [NCI2004_11_17:C4247] DOID:1908 cutaneous fibrohistiocytic neoplasm DOID:1909 melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye. [PMID:22123420, url:http\://en.wikipedia.org/wiki/Melanoma] Naevocarcinoma EXACT [SNOMEDCT_2005_07_31:189749008] DOID:1910 vaginal yolk sac tumor vaginal Yolk Sac neoplasm EXACT [NCI2004_11_17:C6379] DOID:1911 endodermal sinus tumor A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor, url:http\://en.wikipedia.org/wiki/Germ_cell_tumor, url:http\://www.cincinnatichildrens.org/health/y/yolk-sac/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876] Yolk sac tumor (disorder) EXACT [SNOMEDCT_2005_07_31:404081005] DOID:1912 metastasis to vagina secondary tumor to the vagina EXACT [NCI2004_11_17:C6333] DOID:1913 alternating exotropia with A pattern Alternating exotropia with A pattern (disorder) EXACT [SNOMEDCT_2005_07_31:31254003] DOID:1919 Lesch-Nyhan syndrome X-linked hyperuricemia (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:68655008] DOID:192 sex cord-gonadal stromal tumor A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. [url:http\://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour] Specialized gonadal tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134323003] DOID:1920 hyperuricemia An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. [url:http\://en.wikipedia.org/wiki/Hyperuricemia] uricacidemia EXACT [CSP2005:1849-8097] DOID:1921 Klinefelter's syndrome XXY trisomy EXACT [CSP2005:1254-8437] DOID:1922 endocrine syndrome DOID:1923 sex differentiation disease sex differentiation disorder EXACT [CSP2005:2586-8784] DOID:1924 hypogonadism A gonadal disease that is characterized by diminished functional activity of the gonads. [url:http\://en.wikipedia.org/wiki/Hypogonadism] DOID:1925 Coffin-Siris syndrome A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. [url:http\://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, url:http\://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465] Short Stature-Onychodysplasia. EXACT [] DOID:1926 Gaucher's disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. [url:http\://en.wikipedia.org/wiki/Gaucher%27s_disease, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract] lipoid histiocytosis (kerasin type) EXACT [CSP2005:1849-8920] DOID:1927 sphingolipidosis Sphingolipidosis, NOS EXACT [SNOMEDCT_2005_07_31:58459009] DOID:1928 Williams-Beuren syndrome Fanconi Schlesinger syndrome EXACT [CSP2005:4006-0100] DOID:1929 supravalvular aortic stenosis Supravalvar aortic stenosis (disorder) EXACT [SNOMEDCT_2005_07_31:268185002] DOID:193 reproductive organ cancer An organ system cancer that is manifested in the reproductive organs. [url:http\://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers] Reproductive tumor EXACT [NCI2004_11_17:C3674] DOID:1930 Laurence-Moon syndrome Laurence-Moon-Biedl syndrome RELATED [MTHICD9_2006:759.89] DOID:1931 hypothalamic disease Hypothalamus disorder EXACT [SNOMEDCT_2005_07_31:190463005] DOID:1932 Angelman syndrome puppetlike syndrome EXACT [CSP2005:4008-0043] DOID:1933 Rubinstein-Taybi syndrome An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. [url:ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome, url:http\://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome] Rubinstein syndrome EXACT [] DOID:1934 dysostosis A bone development disease that results_in defective ossification of located_in bone. [url:http\://en.wikipedia.org/wiki/Dysostosis, url:http\://medical-dictionary.thefreedictionary.com/dysostosis] DOID:1935 Bardet-Biedl syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. [url:http\://en.wikipedia.org/wiki/Bardet-Biedl_syndrome, url:http\://en.wikipedia.org/wiki/Ciliopathy, url:http\://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome] DOID:1936 atherosclerosis DOID:1938 primary Bacillaceae infectious disease DOID:194 gonadal tissue neoplasm DOID:1941 intermittent alternating exotropia Intermittent exotropia, alternating EXACT [ICD9CM_2006:378.24] DOID:1942 intermittent squint Intermittent heterotropia EXACT [ICD9CM_2006:378.2] DOID:1943 telogen effluvium Telogen effluvium (disorder) EXACT [SNOMEDCT_2005_07_31:39479004] DOID:1947 trichomoniasis A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. [url:http\://en.wikipedia.org/wiki/Trichomoniasis] trichomonas infection RELATED [] DOID:1949 cholecystitis A cholangitis that is characterized_by an inflammation that is located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Cholecystitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm] chronic cholecystitis (disorder) EXACT [SNOMEDCT_2005_07_31:20824003] DOID:195 reproductive endocrine cancer DOID:1954 benign hypertensive heart disease benign hypertensive heart disease NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194768006] DOID:196 acinar cell tumor acinar cell tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189718003] DOID:1962 fallopian tube disease DOID:1963 fallopian tube carcinoma A fallopian tube cancer that is located_in the fallopian tube. [url:http\://www.cancer.gov/dictionary/?CdrID=45687] fallopian tube Ca EXACT [SNOMEDCT_2005_07_31:154529008] DOID:1964 fallopian tube cancer A female reproductive organ cancer that is located_in fallopian tube. [url:http\://en.wikipedia.org/wiki/Fallopian_tube_cancer] tumor, fallopian tube, malignant EXACT [NCI2004_11_17:C7480] DOID:1965 fallopian tube leiomyosarcoma DOID:1966 fallopian tube soft tissue neoplasm DOID:1967 leiomyosarcoma A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. [url:http\://www.cancer.gov/dictionary/?CdrID=46027] Leiomyosarcomas EXACT [NCI2004_11_17:C3158] DOID:1969 cerebral palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. [url:http\://en.wikipedia.org/wiki/Cerebral_palsy, url:http\://www.brainandspinalcord.org/cerebral-palsy/index.html, url:http\://www.cerebralpalsy.org/what-is-cerebral-palsy/] infantile cerebral palsy EXACT [] DOID:197 glandular cell epithelial neoplasm glandular cell Epithelium neoplasm EXACT [NCI2004_11_17:C7132] DOID:1970 fallopian tube carcinosarcoma A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. [url:http\://en.wikipedia.org/wiki/Carcinosarcoma] fallopian tube malignant mixed Mullerian tumor EXACT [] DOID:1973 fallopian tube adenosarcoma fallopian tube mullerian adenosarcoma EXACT [] DOID:1974 adenosarcoma A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. [url:http\://en.wikipedia.org/wiki/Adenosarcoma, url:http\://medical-dictionary.thefreedictionary.com/adenosarcoma] mullerian Adenosarcoma EXACT [NCI2004_11_17:C9474] DOID:1975 thymus lipoma Thymolipoma EXACT [NCI2004_11_17:C6452] DOID:1977 lipoma of the mediastinum Lipoma of mediastinum EXACT [NCI2004_11_17:C6599] DOID:1978 juxtapapillary focal choroiditis and chorioretinitis Juxtapapillary focal choroiditis AND chorioretinitis (disorder) EXACT [SNOMEDCT_2005_07_31:6313001] DOID:1979 focal chorioretinitis DOID:198 mesonephric tumor Wolffian duct tumour EXACT [SNOMEDCT_2005_07_31:13071008] DOID:1982 Rhabdoviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. [url:http\://en.wikipedia.org/wiki/Rhabdoviridae] DOID:1983 Mononegavirales infectious disease A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. [url:http\://en.wikipedia.org/wiki/Mononegavirales] DOID:1984 rectal neoplasm rectum neoplasm EXACT [CSP2005:2010-1432] DOID:1986 perinatal disease DOID:1987 fetal disease fetus disorder EXACT [CSP2005:2403-8856] DOID:1988 rectum lymphoma Lymphoma of rectum EXACT [NCI2004_11_17:C5553] DOID:1990 metastasis to the rectum metastatic tumor to the rectum EXACT [NCI2004_11_17:C7426] DOID:1991 metastases to large Intestine secondary malignant neoplasm of large intestine (disorder) EXACT [SNOMEDCT_2005_07_31:94365007] DOID:1992 rectum malignant melanoma melanoma of rectum EXACT [NCI2004_11_17:C4640] DOID:1993 rectum cancer A colorectal cancer that is located_in the rectum. [url:http\://www.cancer.gov/dictionary?CdrID=529764] rectal cancer EXACT [] DOID:1995 rectum sarcoma A sarcoma and malignant tumor of rectum that is located_in the rectum. [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20rectum&c=pc&ss=] sarcoma of rectum EXACT [NCI2004_11_17:C5548] DOID:1996 rectum adenocarcinoma A rectum cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Rectal adenocarcinoma EXACT [NCI2004_11_17:C9383] DOID:1998 Lutembacher's syndrome Lutembacher's anomaly (disorder) EXACT [SNOMEDCT_2005_07_31:38842003] DOID:1999 chronic eustachian salpingitis A otosalpingitis which is persistent and long-lasting. [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] chronic eustachian tube salpingitis EXACT [SNOMEDCT_2005_07_31:194269002] DOID:200 giant cell tumor tumor of the Giant cell EXACT [NCI2004_11_17:C3055] DOID:2000 otosalpingitis A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] Eustachian tube salpingitis EXACT [SNOMEDCT_2005_07_31:194266009] DOID:2001 neuroma A nervous system benign neoplasm that is characterized as a nerve tissue tumor. [url:http\://en.wikipedia.org/wiki/Neuroma] DOID:2005 tracheal tuberculosis A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. [url:http\://ats.ctsnetjournals.org/cgi/content/full/82/5/1900] Isolated tracheal or bronchial tuberculosis, unspecified examination EXACT [ICD9CM_2006:012.20] DOID:2006 preretinal fibrosis Macular retinal puckering EXACT [SNOMEDCT_2005_07_31:53428005] DOID:2007 degeneration of macula and posterior pole degeneration of macula or posterior pole EXACT [SNOMEDCT_2005_07_31:193392009] DOID:201 connective tissue cancer A musculoskeletal system cancer that is located_in connective tissue. [url:http\://en.wikipedia.org/wiki/Connective_tissue] Tumour of connective tissue EXACT [SNOMEDCT_2005_07_31:254821003] DOID:2010 impaired mobility of ear ossicles except malleus Impaired mobility of other ear ossicles EXACT [ICD9CM_2006:385.22] DOID:2012 Nezelof syndrome T-lymphocyte deficiency EXACT [] DOID:2014 perinatal digestive system disorder DOID:2018 hyperinsulinism hyperinsulinism NOS EXACT [MTHICD9_2006:251.1] DOID:2021 placenta cancer primary malignant neoplasm of placenta EXACT [SNOMEDCT_2005_07_31:93965008] DOID:2022 metastatic neoplasm to the placenta metastatic tumor to the Placenta EXACT [NCI2004_11_17:C8546] DOID:2024 placental choriocarcinoma Choriocarcinoma of the Placenta EXACT [NCI2004_11_17:C8893] DOID:2025 gestational choriocarcinoma Molar pregnancy with choriocarcinoma (disorder) EXACT [SNOMEDCT_2005_07_31:1884006] DOID:2027 fetal or neonatal hemorrhage DOID:203 exostosis A hyperostosis that involves formation of new bone on the surface of preexisting bone. [url:http\://en.wikipedia.org/wiki/Exostosis, url:http\://medical-dictionary.thefreedictionary.com/exostosis] swimmer's exostosis EXACT [] DOID:2030 anxiety disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. [url:http\://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml] anxiety state EXACT [] DOID:2033 communication disorder A specific developmental disorder that involves specific developmental disorders of speech and language. [url:http\://en.wikipedia.org/wiki/Communication_disorder] DOID:2034 encephalomalacia Encephalomalacia (disorder) EXACT [SNOMEDCT_2005_07_31:58762006] DOID:2038 urogenital abnormality DOID:204 enthesopathy DOID:2043 hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. [url:http\://en.wikipedia.org/wiki/Hepatitis_B#Transmission, url:http\://www.cdc.gov/hepatitis/HBV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] Serum hepatitis RELATED [MTHICD9_2006:070.3] DOID:2044 drug-induced hepatitis Drug-induced chronic hepatitis (disorder) EXACT [SNOMEDCT_2005_07_31:235889003] DOID:2047 hepatitis D A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. [url:http\://www.cdc.gov/hepatitis/HDV/index.htm, url:http\://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html] delta hepatitis EXACT [CSP2005:1754-6994] DOID:2048 autoimmune hepatitis An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. [sn:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_hepatitis] autoimmune hepatitis with centrilobular necrosis EXACT [] DOID:205 hyperostosis A bone remodeling disease that results in an abnormal growth of located_in bone. [url:http\://en.wikipedia.org/wiki/Hyperostosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/h/hyperostosis.aspx, url:http\://www.medterms.com/script/main/art.asp?articlekey=3842] hypertrophy of bone (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:13814009] DOID:2050 acute maxillary sinusitis A maxillary sinusitis which lasts for less than 4 weeks. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] acute antritis EXACT [] DOID:2051 maxillary sinusitis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] DOID:2053 reactive cutaneous fibrous lesion DOID:2055 post-traumatic stress disorder An anxiety disorder which results from a traumatic experience that results in psychological trauma. [url:http\://en.wikipedia.org/wiki/Post-traumatic_stress_disorder] traumatic neurosis EXACT [CSP2005:4000-0295] DOID:2058 chronic mucocutaneous candidiasis A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. [url:http\://emedicine.medscape.com/article/1091928-overview, url:http\://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh] chronic Mucocutaneous Candidiasis EXACT [NCI2004_11_17:C34444] DOID:2059 vulvar disease DOID:206 hereditary multiple exostoses An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. [url:http\://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, url:http\://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, url:http\://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, url:http\://www.mheresearchfoundation.org/, url:http\://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis] Osteochondromatosis syndrome (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:16535008] DOID:2060 vulvar nodular hidradenoma DOID:2061 nodular hidradenoma nodular hidradenoma RELATED [MTH:NOCODE] DOID:2062 vulvar tumor of skin appendage origin DOID:2064 vulvar syringoma DOID:2065 syringoma Syringoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:134158007] DOID:2066 vulvar angiokeratoma Fordyce angiokeratoma of vulva EXACT [SNOMEDCT_2005_07_31:402841001] DOID:2068 Bartholin's gland benign neoplasm tumor of Bartholin's gland EXACT [NCI2004_11_17:C6434] DOID:2069 vulvar acquired melanocytic nevus DOID:2070 vulvar melanocytic neoplasm DOID:2071 vulvar squamous papilloma DOID:2072 vulvar squamous tumor DOID:2073 perinatal intestinal perforation Perinatal intestinal perforation (disorder) EXACT [SNOMEDCT_2005_07_31:65390006] DOID:2074 intestinal perforation Perforation of intestine EXACT [ICD9CM_2006:569.83] DOID:2075 minor vestibular glands adenoma adenoma of minor vestibular glands RELATED [] DOID:2076 vulvar glandular tumor DOID:2077 vulvar congenital melanocytic nevus DOID:2078 chondroid syringoma of the vulva DOID:2079 eccrine mixed tumor of skin mixed Eccrine neoplasm of the skin EXACT [NCI2004_11_17:C4474] DOID:208 hereditary neoplastic syndrome Familiar neoplastic syndrome EXACT [NCI2004_11_17:C3266] DOID:2080 vulvar trichoepithelioma DOID:2083 vulvar soft tissue tumor DOID:2085 vulvar blue nevus DOID:2086 blue nevus Blue skin nevus EXACT [NCI2004_11_17:C3803] DOID:2088 outlet dysfunction constipation DOID:2089 constipation A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. [PMID:19647687, url:https\://en.wikipedia.org/wiki/Constipation] DOID:2092 transient arthritis DOID:2093 vulvar melanoma malignant melanoma of vulva (disorder) EXACT [SNOMEDCT_2005_07_31:254896002] DOID:2094 vulvar sweat gland cancer DOID:2095 sweat gland cancer malignant tumor of the Sweat gland EXACT [NCI2004_11_17:C4810] DOID:2096 vulvar sarcoma sarcoma of vulva (disorder) EXACT [SNOMEDCT_2005_07_31:254897006] DOID:2097 vulval Paget's disease Vulvar Paget's disease EXACT [NCI2004_11_17:C4027] DOID:2098 vulva adenocarcinoma A vulva carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of Vulva EXACT [NCI2004_11_17:C6380] DOID:2099 extramammary Paget's disease Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:71447003] DOID:210 heel spur An exostosis that results_in an abnormal growth located_in calcaneus. [url:http\://en.wikipedia.org/wiki/Calcaneal_spur, url:http\://www.medterms.com/script/main/art.asp?articlekey=7094] Calcaneal spur RELATED [ICD9CM_2006:726.73] DOID:2100 vulvar metastasis DOID:2101 vulva squamous cell carcinoma A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma] vulvar squamous cell carcinoma EXACT [] DOID:2106 myotonia congenita A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. [] Thomsen's disease EXACT [CSP2005:1849-6776] DOID:2108 transplant-related disease An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. [ls:IEDB] DOID:211 Ankle or tarsus enthesopathy DOID:2112 cystoisosporiasis A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm] Isosporosis EXACT [SNOMEDCT_2005_07_31:240373006] DOID:2113 coccidiosis A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. [url:http\://en.wikipedia.org/wiki/Coccidiosis] intestinal coccidiosis RELATED [] DOID:2115 B cell deficiency A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf, url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency] immunoglobulin heavy chain deletion EXACT [] DOID:2120 focal dermal hypoplasia Goltz syndrome EXACT [CSP2005:0726-8244] DOID:2121 ectodermal dysplasia Ectodermal dysplasia (disorder) EXACT [SNOMEDCT_2005_07_31:8654005] DOID:2122 pneumonic tularemia A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. [url:http\://www.cdc.gov/tularemia/signssymptoms/] pulmonary tularemia [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:186297007] DOID:2123 tularemia A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. [url:http\://www.cdc.gov/tularemia/index.html] DOID:2124 intracranial neoplasm malignant intracranial neoplasm EXACT [] DOID:2127 brain germinoma intracranial germinoma EXACT [] DOID:2128 intracranial germinoma DOID:2129 atypical teratoid rhabdoid tumor A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. [url:http\://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor] rhabdoid tumor predisposition syndrome RELATED [] DOID:2131 childhood malignant central nervous system neoplasm malignant pediatric tumor of CNS EXACT [NCI2004_11_17:C5448] DOID:2132 brain sarcoma sarcoma of the brain EXACT [NCI2004_11_17:C5154] DOID:2133 central nervous system sarcoma sarcoma of the CNS EXACT [NCI2004_11_17:C5153] DOID:2135 temporal lobe neoplasm tumor of Temporal Lobe EXACT [NCI2004_11_17:C5567] DOID:2139 paraurethral gland neoplasm tumor of the Paraurethral gland EXACT [NCI2004_11_17:C4378] DOID:214 teeth hard tissue disease DOID:2140 urethral urothelial papilloma DOID:2142 urethra leiomyoma leiomyoma of the urethra EXACT [NCI2004_11_17:C6171] DOID:2143 ovarian malignant mesothelioma DOID:2145 malignant ovarian cyst DOID:2146 ovary sarcoma sarcoma of Ovary EXACT [NCI2004_11_17:C8267] DOID:2147 ovary soft tissue neoplasm soft tissue tumor of Ovary EXACT [NCI2004_11_17:C5244] DOID:2148 tuberculous oophoritis An urogenital tuberculosis that results_in inflammtion located_in ovary. [url:http\://www.ams.ac.ir/aim/0581/009.pdf] DOID:2149 urogenital tuberculosis An extrapulmonary tuberculosis that is located_in urogenital system. [url:http\://en.wikipedia.org/wiki/Urogenital_tuberculosis] Genitourinary tuberculosis RELATED [] DOID:2150 ovarian lymphoma DOID:2151 malignant ovarian surface epithelial-stromal neoplasm DOID:2152 ovary epithelial cancer An ovarian cancer that is derived_from ovarian surface epithelium. [url:http\://en.wikipedia.org/wiki/Ovarian_cancer, url:http\://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor] Ovarian Surface epithelial-Stromal tumor EXACT [NCI2004_11_17:C4381] DOID:2153 ovarian Wilms' cancer A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. [url:http\://www.ncbi.nlm.nih.gov/pubmed/18260155] ovarian Wilms' tumor RELATED [] DOID:2154 nephroblastoma A kidney cancer that affects the kidneys and typically located_in children. [url:http\://en.wikipedia.org/wiki/Wilms%27_tumor] Wilms' tumor RELATED [CSP2005:4001-0143] DOID:2155 malignant ovarian germ cell neoplasm malignant Ovarian germ cell tumor EXACT [NCI2004_11_17:C4514] DOID:2156 ovarian germ cell cancer An ovarian cancer that originates in the germ (egg) cells of the ovary. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient] ovarian germ cell tumor RELATED [] DOID:2158 lung metastasis secondary malignant neoplasm of lung (disorder) EXACT [SNOMEDCT_2005_07_31:94391008] DOID:216 dental caries Dental caries pit and fissure EXACT [] DOID:2163 nasal cavity disease DOID:217 enamel caries simple dental cavity EXACT [SNOMEDCT_2005_07_31:19437001] DOID:2170 vaginitis DOID:2172 malignant eyelid tumor malignant tumor of eyelid (disorder) EXACT [SNOMEDCT_2005_07_31:231829006] DOID:2173 eyelid neoplasm tumor of the eyelid EXACT [NCI2004_11_17:C3031] DOID:2174 ocular cancer A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. [url:http\://en.wikipedia.org/wiki/Eye, url:http\://en.wikipedia.org/wiki/Eye_neoplasm] Ocular tumor EXACT [NCI2004_11_17:C3030] DOID:2176 carbuncle carbuncle and furuncle of upper arm and forearm EXACT [] DOID:2177 complications mainly related to pregnancy syphilis of mother, complicating pregnancy, with delivery EXACT [] DOID:2179 diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations EXACT [ICD9CM_2006:250.53] DOID:218 ascending colon cancer malignant tumor of ascending colon (disorder) EXACT [SNOMEDCT_2005_07_31:363412000] DOID:2180 diabetic oculopathy DOID:2181 post-surgical hypoinsulinemia Postsurgical hypoinsulinemia (disorder) EXACT [SNOMEDCT_2005_07_31:78483000] DOID:2186 macrocephaly megacephaly EXACT [NCI2004_11_17:C35268] DOID:2187 amelogenesis imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation. [url:http\://en.wikipedia.org/wiki/Amelogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract] DOID:219 colon cancer A colorectal cancer that is located_in the colon. [url:http\://www.cancer.gov/dictionary?CdrID=44237] DOID:221 acute perichondritis of pinna A perichondritis of auricle with a sudden onset and a short course. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] acute perichondritis of pinna (disorder) EXACT [SNOMEDCT_2005_07_31:45855004] DOID:2211 factor XIII deficiency Hereditary factor XIII deficiency disease (disorder) EXACT [SNOMEDCT_2005_07_31:50189006] DOID:2212 coagulation protein disease DOID:2213 hemorrhagic disease Hemorrhagic disease EXACT [SNOMEDCT_2005_07_31:268884000] DOID:2214 inherited blood coagulation disease DOID:2215 factor VII deficiency Factor VII deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:37193007] DOID:2216 factor V deficiency Proaccelerin deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:365157004] DOID:2217 Bernard-Soulier syndrome Thrombopathy, Bernard-Soulier EXACT [MTHICD9_2006:287.1] DOID:2218 blood platelet disease Thrombocytopathy EXACT [MTHICD9_2006:287.1] DOID:2219 Glanzmann's thrombasthenia Thrombocytasthenia EXACT [MTHICD9_2006:287.1] DOID:222 perichondritis of auricle A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. [url:http\://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] Unspecified perichondritis of pinna (disorder) EXACT [SNOMEDCT_2005_07_31:194194008] DOID:2222 factor X deficiency Factor X deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:76642003] DOID:2223 platelet storage pool deficiency Platelet storage pool defect EXACT [SNOMEDCT_2005_07_31:128099001] DOID:2224 hemorrhagic thrombocythemia A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets. [url:http\://www.webmd.com/a-to-z-guides/thrombocythemia-essential] primary Thrombocytosis EXACT [NCI2004_11_17:C3407] DOID:2225 megakaryocytic tumor DOID:2226 chronic myeloproliferative disease A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. [url:http\://www.cancer.gov/cancertopics/types/myeloproliferative] CMPD, U EXACT [NCI2004_11_17:C27350] DOID:2227 malignant neoplasm of lymphatic and hemopoietic tissue DOID:2228 thrombocytosis A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. [url:http\://en.wikipedia.org/wiki/Thrombocytosis, url:http\://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx] THROMBOCYTHEMIA EXACT [MTH:NOCODE] DOID:2229 factor XI deficiency Rosenthal's disease EXACT [MTHICD9_2006:286.2] DOID:223 basilar artery insufficiency Basilar artery syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:64009001] DOID:2230 hemophilia Hemophilia NOS EXACT [MTHICD9_2006:286.0] DOID:2231 factor XII deficiency Hageman Factor deficiency EXACT [NCI2004_11_17:C26770] DOID:2232 coagulation factor deficiency DOID:2233 partial epilepsy with impairment of consciousness DOID:2234 focal epilepsy An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Focal_epilepsy, url:http\://www.aafp.org/afp/2001/0701/p91.html] partial epilepsy EXACT [] DOID:2235 prothrombin deficiency Factor II deficiency RELATED [NCI2004_11_17:C26799] DOID:2236 congenital afibrinogenemia Fibrinogen deficiency EXACT [SNOMEDCT_2005_07_31:29718007] DOID:2237 hepatitis chronic persistent hepatitis EXACT [SNOMEDCT_2005_07_31:155813004, SNOMEDCT_2005_07_31:266539002] DOID:2239 granulomatous hepatitis Granulomatous hepatitis (disorder) EXACT [SNOMEDCT_2005_07_31:86514004] DOID:224 transient cerebral ischemia Transient ischemic attacks (disorder) EXACT [SNOMEDCT_2005_07_31:313242003] DOID:2242 mild recurrent major depression recurrent major depressive episodes, mild (disorder) EXACT [SNOMEDCT_2005_07_31:191610000] DOID:2247 spondylosis An bone structure disease that involves degeneration between vertebra located_in vertebral column. [url:http\://en.wikipedia.org/wiki/Spondylosis, url:http\://www.mayoclinic.com/health/cervical-spondylosis/DS00697, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000436.htm, url:http\://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means, url:http\://www.spineuniverse.com/conditions/spondylosis/spondylosis] Thoracic or lumbar spondylosis with myelopathy EXACT [] DOID:225 syndrome A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome] DOID:2251 hypertrophic elongation of cervix DOID:2253 cervix disease DOID:2255 short rib-polydactyly syndrome DOID:2256 osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone. [url:http\://en.wikipedia.org/wiki/Osteochondrodysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx] Osteochondrodysplasia syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:105985007] DOID:2257 primary Spirochaetales infectious disease Spirochetes infectious disease EXACT [] DOID:2265 Treponema infectious disease Treponemal infectious disease EXACT [] DOID:227 ankylosis Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. [url:http\://en.wikipedia.org/wiki/Ankylosis] DOID:2271 oropharyngeal candidiasis A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] oropharyngeal thrush EXACT [] DOID:2272 vulvovaginal candidiasis A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] Vulvovaginal Candidiasis EXACT [NCI2004_11_17:C2914] DOID:2273 vulvovaginitis Vulvo-vaginitis EXACT [SNOMEDCT_2005_07_31:266655004] DOID:2275 pharyngitis An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as \sore throat\". The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever." [url:http\://en.wikipedia.org/wiki/Pharyngitis, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016] Sore throat - chronic EXACT [SNOMEDCT_2005_07_31:139659001, SNOMEDCT_2005_07_31:162389005] DOID:2277 gonadal disease An endocrine system disease that is located_in the gonads. [url:http\://semmelweis.hu/belgyogyaszat3/files/2011/05/drigazp-gonaddiseasesenglishiii-publicversion.pdf] DOID:2279 joint derangement DOID:2280 hidradenitis suppurativa Hidradenitis suppurativa (disorder) EXACT [SNOMEDCT_2005_07_31:59393003] DOID:2282 hidradenitis Hydradenitis EXACT [SNOMEDCT_2005_07_31:156417004] DOID:2283 keratopathy DOID:2286 capillary lymphangioma cutaneous lymphangioma RELATED [] DOID:229 female reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. [url:http\://en.wikipedia.org/wiki/Female_reproductive_system, url:http\://en.wikipedia.org/wiki/Reproductive_system_disease] DOID:2297 leptospirosis A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. [url:http\://en.wikipedia.org/wiki/Leptospirosis] Weil's disease (disorder) EXACT [SNOMEDCT_2005_07_31:398067003] DOID:230 lateral sclerosis A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. [url:http\://en.wikipedia.org/wiki/Primary_lateral_sclerosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract] primary lateral sclerosis EXACT [ICD9CM_2006:335.24] DOID:2300 spondylolysis A bone structure disease that involves a defect located_in lumbar vertebral column. [url:http\://emedicine.medscape.com/article/395916-overview, url:http\://en.wikipedia.org/wiki/Spondylolysis, url:http\://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00053, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm] DOID:2301 atrophy of prostate DOID:2303 stereotypic movement disorder A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. [url:http\://www.minddisorders.com/Py-Z/Stereotypic-movement-disorder.html] Stereotypy habit disorder EXACT [SNOMEDCT_2005_07_31:5507002] DOID:231 motor neuron disease A neurodegenerative disease that is located_in the motor neurones. [url:http\://en.wikipedia.org/wiki/Motor_neuron_disease] DOID:2312 nocardiosis An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. [url:http\://emedicine.medscape.com/article/224123-clinical, url:http\://en.wikipedia.org/wiki/Nocardiosis] Nocardia infectious disease EXACT [] DOID:2313 primary Actinomycetales infectious disease Actinomycetales infection EXACT [CSP2005:0368-2354] DOID:2314 malt worker's lung An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. [url:http\://en.wikipedia.org/wiki/hypersensitivity_pneumonitis, url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm] Malt-workers' lung EXACT [SNOMEDCT_2005_07_31:25897000] DOID:2316 brain ischemia Ischemic encephalopathy (disorder) EXACT [SNOMEDCT_2005_07_31:389100007] DOID:2320 obstructive lung disease respiratory airway obstruction EXACT [CSP2005:2596-8463] DOID:2321 dyspepsia indigestion EXACT [CSP2005:1249-7609] DOID:2323 prostate non-neoplastic disease DOID:2324 coxsackie meningitis An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. [url:http\://emedicine.medscape.com/article/215241-overview, url:http\://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html#] Meningitis due to coxsackie virus EXACT [ICD9CM_2006:047.0] DOID:2325 enterovirus meningitis DOID:2326 gastroenteritis A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html] infectious colitis, enteritis and gastroenteritis EXACT [] DOID:2327 viral gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] Viral gastritis (disorder) EXACT [SNOMEDCT_2005_07_31:285344007] DOID:2328 astrovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf] DOID:2329 Rotavirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm, url:http\://www.cdc.gov/rotavirus/about_rotavirus.htm] rotavirus enteritis EXACT [] DOID:233 ocular tuberculosis Tuberculosis of eye, unspecified examination EXACT [ICD9CM_2006:017.30] DOID:2334 metastatic carcinoma A carcinoma that is able to grow at sites distant from the primary site of origin. [url:http\://en.wikipedia.org/wiki/Metastatic_carcinoma] metastatic carcinoma EXACT [SNOMEDCT_2005_07_31:154576004] DOID:2338 mandibular cancer A jaw cancer and mandibular disease that affects your lower jawbone. [url:http\://www.ehow.com/facts_5891679_treatment-cancer-mandible.html] neoplasm of mandible EXACT [SNOMEDCT_2005_07_31:126551000] DOID:2339 Crouzon syndrome A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. [url:http\://emedicine.medscape.com/article/942989-overview, url:http\://en.wikipedia.org/wiki/Crouzon_syndrome, url:http\://ghr.nlm.nih.gov/condition/crouzon-syndrome, url:http\://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm, url:http\://www.faces-cranio.org/Disord/Crouzon.htm] Crouzon's disease RELATED [CSP2005:0725-9662] DOID:234 colon adenocarcinoma A colon carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Colonic adenocarcinoma EXACT [NCI2004_11_17:C4349] DOID:2340 craniosynostosis A synostosis that results_in premature fusion located_in skull. [url:http\://en.wikipedia.org/wiki/Craniosynostosis, url:http\://www.chw.org/display/router.asp?DocID=22502, url:http\://www.mayoclinic.com/health/craniosynostosis/DS00959, url:http\://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001590.htm] Premature closure of cranial sutures EXACT [MTHICD9_2006:756.0] DOID:2344 polyclonal hypergammaglobulinemia Polyclonal hypergammaglobulinemia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190811005] DOID:2345 plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. [url:http\://en.wikipedia.org/wiki/Blood_protein] DOID:2346 monoclonal paraproteinemia Monoclonal paraproteinemia (disorder) EXACT [SNOMEDCT_2005_07_31:267440005] DOID:2347 generalized atherosclerosis Generalized atherosclerosis (disorder) EXACT [SNOMEDCT_2005_07_31:39823006] DOID:2348 arteriosclerotic cardiovascular disease Cardiovascular arteriosclerosis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:195121002] DOID:2349 arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. [url:http\://en.wikipedia.org/wiki/Arteriosclerosis] Arteriosclerotic vascular disease NOS EXACT [SNOMEDCT_2005_07_31:155418003] DOID:235 colonic benign neoplasm An intestinal benign neoplasm that is located_in the colon. [url:http\://en.wikipedia.org/wiki/Benign_tumor] neoplasm of colon (disorder) EXACT [SNOMEDCT_2005_07_31:126838000] DOID:2350 iron overload Iron overload (disorder) EXACT [SNOMEDCT_2005_07_31:60737008] DOID:2351 iron metabolism disease iron disorder EXACT [CSP2005:1630-2859] DOID:2352 hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. [url:http\://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis, url:http\://ghr.nlm.nih.gov/condition/hemochromatosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract] iron storage disorder EXACT [CSP2005:1630-3927] DOID:2354 myelophthisic anemia A myeloma and anemia that is located_in some people with diseases that affect the bone marrow. [url:http\://en.wikipedia.org/wiki/Myelophthisic_anemia] myelophthisis RELATED [] DOID:2355 anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. [url:http\://en.wikipedia.org/wiki/Anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/anemia/] anaemia EXACT [] DOID:2361 macrocytic anemia Macrocytic anemia of unspecified cause (disorder) EXACT [SNOMEDCT_2005_07_31:234356001] DOID:2364 post-thrombotic syndrome A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. [url:http\://en.wikipedia.org/wiki/Post-thrombotic_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/21239797] venous stress disorder EXACT [] DOID:2365 West Nile encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm] West Nile Fever with encephalitis EXACT [ICD9CM_2006:066.41] DOID:2366 West Nile fever A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. [url:http\://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm, url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf] DOID:2367 neuroaxonal dystrophy Neuroaxonal dystrophy (disorder) EXACT [SNOMEDCT_2005_07_31:230365004] DOID:2368 gangliosidosis mucolipidosis type IV EXACT [] DOID:2369 diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations EXACT [ICD9CM_2006:250.41] DOID:237 adhesions and disruptions of iris and ciliary body adhesions and disruptions of iris and ciliary body NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193526000] DOID:2370 diabetic nephropathy DOID:2373 hereditary elliptocytosis A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. [url:http\://en.wikipedia.org/wiki/Hereditary_elliptocytosis, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html] ovalocytosis EXACT [CSP2005:0427-1524] DOID:2376 chronic progressive multiple sclerosis chronic progressive multiple sclerosis (disorder) EXACT [SNOMEDCT_2005_07_31:230373008] DOID:2377 multiple sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. [url:http\://en.wikipedia.org/wiki/Multiple_sclerosis] insular sclerosis EXACT [CSP2005:2042-2324] DOID:2378 relapsing-remitting multiple sclerosis A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html] RRMS EXACT [] DOID:238 pupil disease Pupillary disorder EXACT [SNOMEDCT_2005_07_31:68633000] DOID:2381 Vibrio cholerae O1 biovar El Tor cholera A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent] Vibrio cholerae O1 biovar eltor cholera EXACT [] DOID:2382 kernicterus Kernicterus of newborn NOS (disorder) EXACT [SNOMEDCT_2005_07_31:206479002] DOID:2383 neonatal jaundice A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. [url:http\://en.wikipedia.org/wiki/Neonatal_jaundice, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001559.htm] neonatal icterus EXACT [] DOID:2384 Wernicke encephalopathy Wernicke's encephalopathy EXACT [SNOMEDCT_2005_07_31:190626005] DOID:2385 thiamine deficiency vitamin B1 deficiency EXACT [SNOMEDCT_2005_07_31:190624008] DOID:2388 renal artery disease vascular disorder of kidney EXACT [ICD9CM_2006:593.81] DOID:2389 fibromuscular dysplasia Fibromuscular hyperplasia of artery [Ambiguous] EXACT [SNOMEDCT_2005_07_31:234023007] DOID:239 iridodialysis coredialysis EXACT [] DOID:2392 glandular cystitis cystitis glandularis RELATED [] DOID:2394 ovarian cancer A female reproductive organ cancer that is located_in the ovary. [url:http\://www.cancer.gov/dictionary?CdrID=445074] tumor of the Ovary EXACT [NCI2004_11_17:C4984] DOID:2399 ovarian clear cell neoplasm Clear cell tumor of ovary (disorder) EXACT [SNOMEDCT_2005_07_31:254853007] DOID:240 iris disease DOID:2401 clitoris cancer malignant tumor of Clitoris EXACT [NCI2004_11_17:C3557] DOID:2402 lymphangiectasis Lymphangiectasis (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:48087001] DOID:2409 rhinosporidiosis A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. [url:http\://emedicine.medscape.com/article/227734-overview] Rhinosporidiosis (disorder) EXACT [SNOMEDCT_2005_07_31:18140003] DOID:2410 skin granular cell tumor granular cell tumor of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254763007] DOID:2411 granular cell tumor neoplasm of granular cell EXACT [NCI2004_11_17:C3474] DOID:2412 skin tumor of neural origin skin tumor of neural origin (disorder) EXACT [SNOMEDCT_2005_07_31:254758008] DOID:2413 epithelioid and spindle cell nevus Spitz (spindle cell) nevus EXACT [NCI2004_11_17:C27007] DOID:2415 benign skin melanocytic nevus Naevus - benign EXACT [SNOMEDCT_2005_07_31:269639005] DOID:2417 melanocytic nevus Sutton's naevus EXACT [SNOMEDCT_2005_07_31:307602007] DOID:2421 skin fibrous tissue neoplasm fibrous tissue tumor of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254736006] DOID:2423 halo nevus HN EXACT [NCI2004_11_17:C7602] DOID:2424 intradermal nevus Intradermal nevus (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:112681002] DOID:2425 cutaneous ganglioneuroma Ganglioneuroma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254766004] DOID:2426 gangliocytoma DOID:2430 skin glomus tumor Glomus tumor of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254795008] DOID:2431 glomus tumor A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. [url:www.iarc.fr/en/publications/pdfs-online/pat-gen/bb5/bb5-chap5.pdf] Glomus tumour EXACT [SNOMEDCT_2005_07_31:393567008] DOID:2433 epidermal appendage tumor skin appendage tumour EXACT [SNOMEDCT_2005_07_31:55681005] DOID:2434 intraepidermal nevus Junctional nevus of the skin EXACT [NCI2004_11_17:C4231] DOID:2435 skin glomangioma Glomangioma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:403970001] DOID:2436 glomangioma DOID:2437 skin compound nevus Compound nevus of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254805008] DOID:2438 dermis tumor tumor of dermis (disorder) EXACT [SNOMEDCT_2005_07_31:254735005] DOID:2441 frontal sinus squamous cell carcinoma Epidermoid carcinoma of the Frontal sinus EXACT [NCI2004_11_17:C6067] DOID:2444 hyperpituitarism DOID:2446 gigantism Pituitary gigantism EXACT [SNOMEDCT_2005_07_31:86073008] DOID:2449 acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. [url:http\://en.wikipedia.org/wiki/Acromegaly, url:http\://www.acromegaly.org/, url:http\://www.mayoclinic.com/health/acromegaly/DS00478, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000321.htm, url:http\://www.umm.edu/endocrin/acromegaly.htm] DOID:2450 central retinal vein occlusion central retinal vein occlusion (disorder) EXACT [SNOMEDCT_2005_07_31:68478007] DOID:2451 protein S deficiency Protein S deficiency disease (disorder) EXACT [SNOMEDCT_2005_07_31:1563006] DOID:2452 thrombophilia Thrombophilia (disorder) EXACT [SNOMEDCT_2005_07_31:234467004] DOID:2455 angular blepharoconjunctivitis A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. [url:http\://dro.hs.columbia.edu/angbleph.htm] Angular blepharoconjunctivitis (disorder) EXACT [SNOMEDCT_2005_07_31:69397000] DOID:2456 blepharoconjunctivitis A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. [url:http\://en.wikipedia.org/wiki/Conjunctivitis] DOID:2457 giant papillary conjunctivitis DOID:2458 papillary conjunctivitis DOID:2460 anterior dislocation of lens DOID:2462 retinal vascular disease retina circulation disorder EXACT [CSP2005:1114-7471] DOID:2467 reactive confusion Psychogenic twilight state EXACT [MTHICD9_2006:298.2] DOID:2468 psychotic disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. [url:http\://www.nlm.nih.gov/medlineplus/psychoticdisorders.html] mental or behavioural disorder EXACT [] DOID:2469 swine erysipelas Erysipelas in swine EXACT [SNOMEDCT_2005_07_31:37122007] DOID:2470 Erysipelothrix infectious disease Seal finger (disorder) EXACT [SNOMEDCT_2005_07_31:238455005] DOID:2471 Erysipelothrix rhusiopathiae infectious disease Infection due to Erysipelothrix rhusiopathiae EXACT [SNOMEDCT_2005_07_31:266005008] DOID:2473 opportunistic mycosis A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. [url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006] opportunistic systemic mycoses EXACT [] DOID:2474 vernal conjunctivitis DOID:2475 chronic conjunctivitis Unspecified chronic conjunctivitis (disorder) EXACT [SNOMEDCT_2005_07_31:193865006] DOID:2476 hereditary spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. [url:http\://en.wikipedia.org/wiki/Familial_spastic_paraplegia] spastic paraplegia RELATED [] DOID:2477 motor peripheral neuropathy neuropathic muscular atrophy EXACT [CSP2005:2042-7637] DOID:2479 central nervous system origin vertigo Vertigo of central origin NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194362009] DOID:248 trachea leiomyoma Tracheal tumor EXACT [NCI2004_11_17:C3419] DOID:2481 infantile epileptic encephalopathy infantile spasm EXACT [] DOID:2485 phosphorus metabolism disease phosphorus metabolism disorder EXACT [CSP2005:0531-8952] DOID:2487 hypercholesterolemia hypercholesterolaemia RELATED [SNOMEDCT_2005_07_31:154740003] DOID:2490 congenital nervous system abnormality congenital neurologic anomaly EXACT [] DOID:2491 sensory peripheral neuropathy A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. [ls:IEDB] Sensory neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:95662005] DOID:2492 hereditary peripheral neuropathy Hereditary peripheral neuropathy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193159008] DOID:2493 gastric antral vascular ectasia Watermelon stomach (disorder) EXACT [SNOMEDCT_2005_07_31:43935004] DOID:2494 angiodysplasia A vascular disease that is characterized as a small vascular malformation of the gut. [url:http\://en.wikipedia.org/wiki/Angiodysplasia] angiodysplasia of stomach and duodenum with hemorrhage EXACT [] DOID:2495 senile angioma Senile naevus of skin EXACT [SNOMEDCT_2005_07_31:11790000] DOID:2497 enamel erosion DOID:2498 tooth erosion localized erosion EXACT [] DOID:250 chronic brain damage chronic Encephalopathy EXACT [NCI2004_11_17:C34435] DOID:2503 AIDS-related vulvovaginal candidiasis A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis] DOID:2508 Takayasu's arteritis A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001250.htm] Takayasu's disease EXACT [ICD9CM_2006:446.7, SNOMEDCT_2005_07_31:155445002, SNOMEDCT_2005_07_31:266323005] DOID:251 alcohol-induced mental disorder DOID:2510 Kluver-Bucy syndrome An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. [url:http\://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome, url:http\://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm] Klver-Bucy syndrome EXACT [SNOMEDCT_2005_07_31:10651001] DOID:2512 nevoid basal cell carcinoma syndrome Naevoid basal cell carcinoma syndrome EXACT [SNOMEDCT_2005_07_31:188145001] DOID:2513 basal cell carcinoma A skin carcinoma affecting basal cells. [url:http\://en.wikipedia.org/wiki/Basal-cell_carcinoma] Rodent ulcer EXACT [SNOMEDCT_2005_07_31:154507009] DOID:2514 meningococcal optic neuritis Meningococcal optic neuritis (disorder) EXACT [SNOMEDCT_2005_07_31:73431005] DOID:2515 meningococcal infectious disease DOID:2516 intracranial cavernous angioma intracranial Cavernoma EXACT [NCI2004_11_17:C5432] DOID:2517 intracranial structure hemangioma hemangioma of intracranial structures (disorder) EXACT [SNOMEDCT_2005_07_31:189196005] DOID:2518 orchitis Orchititis EXACT [SNOMEDCT_2005_07_31:274718005] DOID:2519 testicular disease testis disorder EXACT [CSP2005:2587-6706] DOID:252 alcoholic psychosis Alcoholic psychoses EXACT [SNOMEDCT_2005_07_31:154852003] DOID:2524 abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium postpartum abnormal glucose tolerance of mother EXACT [] DOID:2526 prostate adenocarcinoma A prostate carcinoma that derives_from epithelial cells of glandular origin. [url:http\://cancergenome.nih.gov/cancersselected/prostatecancer, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Prostate_cancer] DOID:2527 nephrosis DOID:2528 myeloid metaplasia A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. [url:https\://health.google.com/health/ref/Primary+myelofibrosis] Myeloid metaplasia (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:82513007] DOID:2529 splenic disease Spleen disease EXACT [SNOMEDCT_2005_07_31:267570002] DOID:2530 splenic abscess Splenic abscess (disorder) EXACT [SNOMEDCT_2005_07_31:82053000] DOID:2531 hematologic cancer An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. [url:http\://en.wikipedia.org/wiki/Blood_cancer, url:http\://www.cancer.gov/dictionary/?CdrID=45708] malignant hematopoietic neoplasm (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:414644002] DOID:2533 splenic infarction Splenic infarction (disorder) EXACT [SNOMEDCT_2005_07_31:22996003] DOID:2536 chronic inflammatory demyelinating polyneuritis DOID:2537 inflammatory and toxic neuropathy DOID:2538 Landau-Kleffner syndrome acquired epileptic aphasia EXACT [SNOMEDCT_2005_07_31:192567003] DOID:254 hemangioma of intra-abdominal structure hemangioma, Intra-abdominal EXACT [NCI2004_11_17:C3635] DOID:2544 extratemporal epilepsy An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. [url:http\://www.webmd.com/epilepsy/extratemporal-cortical-resection] Extratemporal epilepsy (disorder) EXACT [SNOMEDCT_2005_07_31:111498005] DOID:2545 congenital epilepsy DOID:2546 atonic epilepsy Epileptic seizures - atonic (finding) EXACT [SNOMEDCT_2005_07_31:192981006] DOID:2547 intractable epilepsy DOID:2548 reflex epilepsy epilepsy, sensory-induced EXACT [MTHICD9_2006:345.5] DOID:2549 aggravated epilepsy DOID:255 hemangioma A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. [url:http\://en.wikipedia.org/wiki/Hemangioma] DOID:2550 tactile epilepsy Tactile epilepsy (disorder) EXACT [SNOMEDCT_2005_07_31:230449001] DOID:2551 anosognostic epilepsy DOID:2555 granulomatous angiitis DOID:2556 relapsing polychondritis Chondromalacia, systemic EXACT [MTHICD9_2006:733.92] DOID:2557 chondromalacia DOID:2559 opiate dependence A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Opiate_dependency] Opioid type dependence EXACT [ICD9CM_2006:304.0] DOID:256 hemangioma of spleen Splenic hemangioma EXACT [NCI2004_11_17:C8541] DOID:2560 morphine dependence An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Opioid_dependence] DOID:2562 suppurative periapical periodontitis Suppurative apical periodontitis EXACT [SNOMEDCT_2005_07_31:109603007] DOID:2563 Serratia septicemia Septicemia due to Serratia (disorder) EXACT [SNOMEDCT_2005_07_31:82091000] DOID:2565 macular corneal dystrophy A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. [url:http\://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular, url:http\://en.wikipedia.org/wiki/Macular_corneal_dystrophy, url:http\://www.ncbi.nlm.nih.gov/pubmed/11017086, url:http\://www.ncbi.nlm.nih.gov/pubmed/17093400, url:http\://www.omim.org/entry/217800?search=217800&highlight=217800] MACULAR DYSTROPHY, CORNEAL, 1 EXACT [] DOID:2566 corneal dystrophy DOID:2567 primary Enterobacteriaceae infectious disease DOID:2568 cervicitis DOID:2569 retinal drusen Basal laminar drusen EXACT [] DOID:2570 malignant histiocytic disease DOID:2571 Langerhans-cell histiocytosis A histiocytosis that is characterized by clonal proliferation of Langerhans cells. [url:http\://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis] Letterer-Siwe disease of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:93140007] DOID:2573 drug-induced delirium Drug-induced delirium (disorder) EXACT [SNOMEDCT_2005_07_31:191492000] DOID:2574 diabetes mellitus insulin dependent type uncontrolled with renal manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations EXACT [ICD9CM_2006:250.43] DOID:2575 barbiturate dependence A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Barbiturate_dependence] DOID:2580 rhizomelic chondrodysplasia punctata A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. [url:http\://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata, url:http\://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata, url:http\://www.healthline.com/galecontent/rhizomelic-chondrodysplasia-punctata] DOID:2581 chondrodysplasia punctata Chondrodysplasia punctata congenita (disorder) EXACT [SNOMEDCT_2005_07_31:360507004] DOID:2582 acatalasia deficiency of catalase (disorder) EXACT [SNOMEDCT_2005_07_31:124202004] DOID:2583 agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins. [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia] mu heavy chain deficiency EXACT [] DOID:2584 nephrotic syndrome with lesion of endothelial glomerulonephritis DOID:2585 nephrotic syndrome with lesion of segmental hyalinosis DOID:2586 nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis EXACT [NCI2004_11_17:C35536] DOID:2587 nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis EXACT [NCI2004_11_17:C35539] DOID:2588 nephrotic syndrome with lesion of persistent glomerulonephritis Nephrotic syndrome with Lesion of Persistent Glomerulonephritis EXACT [NCI2004_11_17:C35537] DOID:2589 nephrotic syndrome with lesion of membranous glomerulonephritis Nephrotic syndrome with lesion of membranous glomerulonephritis EXACT [ICD9CM_2006:581.1] DOID:259 abortion complicated by embolism DOID:2590 familial nephrotic syndrome Congenital nephrotic syndrome EXACT [SNOMEDCT_2005_07_31:48796009] DOID:2591 nephrotic syndrome with lesion of lobular glomerulonephritis Nephrotic syndrome with Lesion of Lobular Glomerulonephritis EXACT [NCI2004_11_17:C35538] DOID:2592 nephrotic syndrome with lesion of focal glomerulosclerosis Nephrotic syndrome with Lesion of Focal Glomerulosclerosis EXACT [NCI2004_11_17:C35533] DOID:2595 glottis cancer malignant tumor of the Glottis EXACT [NCI2004_11_17:C3544] DOID:2596 larynx cancer A respiratory system cancer that is located_in the larynx. [url:http\://en.wikipedia.org/wiki/Larynx] DOID:2597 glottis neoplasm tumor of the Glottis EXACT [NCI2004_11_17:C4425] DOID:2598 laryngeal benign neoplasm neoplasm of larynx (disorder) EXACT [SNOMEDCT_2005_07_31:126692004] DOID:2599 glottis carcinoma Glottic carcinoma EXACT [NCI2004_11_17:C4923] DOID:26 pancreas disease An endocrine system disease that is located_in the pancreas. [url:http\://en.wikipedia.org/wiki/Pancreatic_disease] DOID:260 hepatic flexure cancer malignant tumor of hepatic flexure (disorder) EXACT [SNOMEDCT_2005_07_31:363407001] DOID:2600 laryngeal carcinoma A larynx cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of larynx (disorder) EXACT [SNOMEDCT_2005_07_31:276975007] DOID:2601 juxtacortical chondroma Periosteal Chondroma EXACT [NCI2004_11_17:C4302] DOID:2602 chondroma A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. [url:http\://en.wikipedia.org/wiki/Chondroma] Chondroma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189885004] DOID:2609 adenomyoma A carcinosarcoma that has_material_basis_in gland and muscle components. [url:http\://en.wikipedia.org/wiki/Adenomyoma] adenomyoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:40293003] DOID:261 transverse colon cancer malignant tumor of transverse colon (disorder) EXACT [SNOMEDCT_2005_07_31:363408006] DOID:2614 serous surface papilloma serous surface papilloma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189689007] DOID:2615 papilloma A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. [url:http\://www.merriam-webster.com/medlineplus/papilloma] papillomatosis, NOS EXACT [SNOMEDCT_2005_07_31:82049002] DOID:2616 Wolffian duct adenoma Wolffian duct adenoma RELATED [] DOID:262 kidney hemangiopericytoma A kidney cancer which is manifested in the kidney. [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/] renal hemangiopericytoma EXACT [NCI2004_11_17:C4527] DOID:2620 ductal, lobular, and medullary neoplasm ductal, lobular and medullary tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134321001] DOID:2621 autonomic nervous system neoplasm A peripheral nervous system neoplasm that is located_in the autonomic nervous system. [url:http\://en.wikipedia.org/wiki/Autonomic_nervous_system] tumor of Autonomic nervous system EXACT [NCI2004_11_17:C5112] DOID:2622 neuroblastic tumor DOID:2623 neuronal and glio-neuronal neoplasm neuronal and mixed neuronal-glial tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:302831000] DOID:2626 choroid plexus papilloma pediatric papilloma of Choroid Plexus EXACT [NCI2004_11_17:C5800] DOID:2629 papillary serous cystadenoma Papillary serous cystadenoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189688004] DOID:263 kidney cancer A urinary system cancer that is located_in the kidney. [url:http\://en.wikipedia.org/wiki/Kidney_cancer] renal cancer EXACT [] DOID:2630 papillary cystadenoma Papillary cystadenoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189686000] DOID:2631 serous cystadenoma serous microcystic adenoma EXACT [SNOMEDCT_2005_07_31:51608009] DOID:2632 papillary serous adenocarcinoma A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. [url:http\://www.uptodate.com/contents/topic.do?topicKey=OBGYN/3192] serous surface papillary carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:15674004] DOID:2633 mucinous cystadenoma mucinous cystadenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:67182003] DOID:2634 cystadenoma An adenoma that is a cystic. [url:http\://en.wikipedia.org/wiki/Cystadenoma] Cystoma EXACT [NCI2004_11_17:C2972] DOID:2635 mucinous neoplasm mucinous tumor EXACT [] DOID:2636 ovarian Brenner tumor Ovarian Brenner tumor EXACT [NCI2004_11_17:C3872] DOID:2639 breast pericanalicular fibroadenoma Pericanalicular Fibroadenoma of breast EXACT [NCI2004_11_17:C4272] DOID:264 hemangiopericytoma A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma] malignant hemangiopericytoma EXACT [] DOID:2640 struma ovarii Struma ovarii NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189851000] DOID:2641 ovarian germ cell monodermal and highly specialized teratoma Ovarian Monodermal and Highly Specialized teratoma EXACT [NCI2004_11_17:C8113] DOID:2642 lymphangiomyoma Lymphangiomyoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:25239006] DOID:2643 perivascular epithelioid cell tumor PEComa EXACT [] DOID:2645 benign mesothelioma A cell type benign neoplasm that has_material_basis in mesothelium. [url:http\://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817] benign tumor of Mesothelium EXACT [NCI2004_11_17:C4280] DOID:2647 parachordoma Parachordoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128786009] DOID:2648 sebaceous adenoma skin appendage sebaceous adenoma EXACT [] DOID:2649 chondroblastoma Chondroblastoma of bone EXACT [SNOMEDCT_2005_07_31:134337007] DOID:265 spleen angiosarcoma An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. [url:http\://radiology.rsna.org/content/235/1/106.full] Splenic hemangiosarcoma EXACT [NCI2004_11_17:C4564] DOID:2651 intraductal papillomatosis Intraductal papillomatosis NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189710005] DOID:2653 benign fibrous mesothelioma localized benign fibrous Mesothelioma EXACT [NCI2004_11_17:C4281] DOID:2654 serous neoplasm DOID:2656 breast intracanalicular fibroadenoma DOID:2658 dermoid cyst teratoma, benign (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:42717009] DOID:266 malignant soft tissue neoplasm of the spleen malignant soft tissue tumor of Spleen EXACT [NCI2004_11_17:C7292] DOID:2660 cystic teratoma DOID:2661 myoepithelioma A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. [url:http\://medical-dictionary.thefreedictionary.com/myoepithelioma] Myoepithelial neoplasm EXACT [NCI2004_11_17:C40392] DOID:2664 sweat gland neoplasm tumor of the Sweat gland EXACT [NCI2004_11_17:C3398] DOID:2667 benign mesenchymoma Mesenchymoma, benign (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:38406003] DOID:2668 mesenchymoma DOID:2669 Pacinian tumor Pacinian tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:4230004] DOID:2670 transitional papilloma transitional cell papilloma, benign (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:44342003] DOID:2671 transitional cell carcinoma A carcinoma that derives_from transitional epithelial cells. [url:http\://en.wikipedia.org/wiki/Transitional_cell_carcinoma] urothelial cell carcinoma EXACT [] DOID:2673 cystic nephroma DOID:2676 papillary pseudomucinous cystadenoma Papillary mucinous cystadenoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189693001] DOID:2678 adult mesoblastic nephroma A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. [url:http\://www.ncbi.nlm.nih.gov/pubmed/9669345] mixed epithelial and stromal tumour of kidney EXACT [SNOMEDCT_2005_07_31:388985009] DOID:2679 dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128788005] DOID:268 liver angiosarcoma An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. [url:http\://emedicine.medscape.com/article/276512-overview] hemangiosarcoma of the Liver EXACT [NCI2004_11_17:C4438] DOID:2680 pediatric central nervous system tumor pediatric neoplasm of CNS EXACT [NCI2004_11_17:C5132] DOID:2681 nevus skin mole, NOS EXACT [SNOMEDCT_2005_07_31:51697005] DOID:2682 intracystic papillary adenoma Intracystic papilloma EXACT [NCI2004_11_17:C4191] DOID:2683 adenofibroma A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. [url:http\://www.ncbi.nlm.nih.gov/mesh/68000232] adenofibroma, no ICD-O subtype (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:2962009] DOID:2685 ossifying fibromyxoid tumor Ossifying Fibromyxoma EXACT [NCI2004_11_17:C6582] DOID:2687 skin sarcoma Cutaneous sarcoma EXACT [NCI2004_11_17:C5585] DOID:2689 lymphangiosarcoma A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. [ISBN:0-7817-2229-2, PMID:9796078, url:https\://en.wikipedia.org/wiki/Lymphangiosarcoma] Stewart-Treves syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:62497000] DOID:2691 myoma benign neoplasm of the Muscle EXACT [NCI2004_11_17:C4882] DOID:2696 Leydig cell tumor Leydig cell neoplasm EXACT [NCI2004_11_17:C3188] DOID:2697 renal adenoma renal cell adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:41627005] DOID:2698 nephrogenic adenofibroma Metanephric adenofibroma EXACT [SNOMEDCT_2005_07_31:128760004] DOID:2699 sinonasal papilloma Schneiderian papilloma EXACT [NCI2004_11_17:C4117] DOID:270 liver sarcoma A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. [url:http\://www.cancersupportivecare.com/liver.html] hepatic sarcoma EXACT [NCI2004_11_17:C4437] DOID:2700 mucinous adenofibroma DOID:2701 nodular tenosynovitis Synovioma, benign (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:5178002] DOID:2702 pigmented villonodular synovitis villous tenosynovitis EXACT [SNOMEDCT_2005_07_31:71508003] DOID:2703 synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. [sn:IEDB] DOID:2704 malignant giant cell tumor of the tendon sheath malignant Giant cell neoplasm of the Tendon Sheath EXACT [NCI2004_11_17:C6535] DOID:2705 malignant giant cell tumor malignant tumor, giant cell type (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:83950009] DOID:2706 synovium cancer malignant tumor of Synovium EXACT [NCI2004_11_17:C6531] DOID:2708 mushroom workers' lung An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf] DOID:271 hemangioma of liver hepatic angioma (disorder) EXACT [SNOMEDCT_2005_07_31:235879002] DOID:2710 sick building syndrome An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome] DOID:2712 phimosis Tight frenulum EXACT [SNOMEDCT_2005_07_31:198005005] DOID:2717 Bloom syndrome An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. [PMID:10823897, PMID:9482582, url:http\://ghr.nlm.nih.gov/condition/bloom-syndrome, url:https\://en.wikipedia.org/wiki/Bloom_syndrome] Congenital Telangiectatic Erythema syndrome EXACT [NCI2004_11_17:C2903] DOID:2718 hemopneumothorax DOID:272 hepatic vascular disease A vascular disease that is located_in the liver. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21055687] vascular disorder of liver (disorder) EXACT [SNOMEDCT_2005_07_31:235878005] DOID:2722 acrodermatitis A dermatitis that selectively affects the hands and feet. [url:http\://en.wikipedia.org/wiki/Acrodermatitis] DOID:2723 dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. [url:http\://en.wikipedia.org/wiki/Dermatitis, url:http\://www.nlm.nih.gov/medlineplus/eczema.html] skin inflammation EXACT [] DOID:2724 port-wine stain Port Wine type hemangioma EXACT [NCI2004_11_17:C3840] DOID:2725 capillary hemangioma Strawberry nevus of skin (disorder) EXACT [SNOMEDCT_2005_07_31:56975005] DOID:2726 acne nevus Pilosebaceous Nevoid disorder EXACT [NCI2004_11_17:C3946] DOID:2728 Pilosebaceous hamartoma DOID:2729 dyskeratosis congenita A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. [url:http\://en.wikipedia.org/wiki/Dyskeratosis_congenita, url:http\://ghr.nlm.nih.gov/condition/dyskeratosis-congenita] DOID:2730 epidermolysis bullosa Epidermolysis bullosa (disorder) EXACT [SNOMEDCT_2005_07_31:61003004] DOID:2731 vesiculobullous skin disease DOID:2732 Rothmund-Thomson syndrome RTS EXACT [NCI2004_11_17:C3335] DOID:2733 skin atrophy Atrophy - skin EXACT [SNOMEDCT_2005_07_31:156391001] DOID:2734 keratosis follicularis Keratosis follicularis (disorder) EXACT [SNOMEDCT_2005_07_31:48611009] DOID:2736 Hajdu-Cheney syndrome DOID:2737 Witkop-Von Sallmann disease Hereditary benign intraepithelial dyskeratosis (disorder) EXACT [SNOMEDCT_2005_07_31:400014002] DOID:2738 pseudoxanthoma elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. [url:http\://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, url:http\://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract] Gronblad-Strandberg syndrome EXACT [] DOID:2739 Gilbert syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. [url:http\://en.wikipedia.org/wiki/Gilbert%27s_syndrome] hereditary nonhemolytic jaundice EXACT [CSP2005:1654-1020] DOID:2741 bilirubin metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. [url:http\://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia] hyperbilirubinemia EXACT [] DOID:2742 auditory system disease Unspecified disorder of ear EXACT [ICD9CM_2006:388.9] DOID:2743 pyeloureteritis cystica DOID:2744 pyelitis Pyelitis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:197780007] DOID:2745 narcissistic personality disorder A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. [url:http\://en.wikipedia.org/wiki/Narcissistic_personality_disorder] DOID:2746 glycogen storage disease V myophosphorylase deficiency EXACT [CSP2005:1849-4007] DOID:2747 glycogen storage disease A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism, url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease, url:http\://www.slideshare.net/anjupaed/glcogen-storage-disorders] glycogenosis EXACT [CSP2005:4000-0193] DOID:2748 glycogen storage disease III Glycogen storage disease, type III (disorder) EXACT [SNOMEDCT_2005_07_31:66937008] DOID:2749 glycogen storage disease I A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, url:http\://en.wikipedia.org/wiki/Von_Gierke%27s_disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK1312/] von Gierke's disease EXACT [MTHICD9_2006:271.0] DOID:275 gastric hemangioma hemangioma of stomach EXACT [NCI2004_11_17:C5481] DOID:2750 glycogen storage disease IV Glycogen storage disease, type IV (disorder) EXACT [SNOMEDCT_2005_07_31:11179002] DOID:2751 glycogen storage disease VIII hepatic glycogen phosphorylase kinase deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:297255007] DOID:2752 glycogen storage disease II A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II] Pompe's disease EXACT [SNOMEDCT_2005_07_31:237968007] DOID:2753 nervous system lysosomal storage disease DOID:2754 glycogen storage disease VI A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI, url:http\://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract] Hers' disease EXACT [] DOID:2755 Mycobacterium avium complex disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. [url:http\://hivinsite.ucsf.edu/InSite?page=md-agl-mac, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/mycobacteriumavium_t.htm] Mycobacterium Avium Infection EXACT [NCI2004_11_17:C36197] DOID:2756 paratuberculosis Johne's disease (disorder) EXACT [SNOMEDCT_2005_07_31:12223006] DOID:2757 Mycobacterium infectious disease Unspecified disease due to mycobacteria EXACT [ICD9CM_2006:031.9] DOID:2762 bone carcinoma A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] DOID:2763 ethmoid sinus squamous cell carcinoma Epidermoid carcinoma of the ethmoidal sinus EXACT [NCI2004_11_17:C6065] DOID:2764 ethmoid sinus adenoid cystic carcinoma adenoid cystic carcinoma of the ethmoid sinus EXACT [NCI2004_11_17:C6238] DOID:2766 ethmoid sinus adenocarcinoma An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the ethmoid sinus EXACT [NCI2004_11_17:C6237] DOID:2768 transient tic disorder A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. [url:http\://en.wikipedia.org/wiki/Tic_disorder] DOID:2769 tic disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. [url:http\://www.minddisorders.com/Py-Z/Tic-disorders.html, url:http\://www.tsa-usa.org/Medical/definitions.html] DOID:277 chorioangioma Placental hemangioma EXACT [NCI2004_11_17:C4868] DOID:2770 diaper rash Jacquet's dermatitis EXACT [SNOMEDCT_2005_07_31:238582000] DOID:2771 atopic dermatitis and related conditions DOID:2772 irritant dermatitis primary irritant dermatitis (disorder) EXACT [SNOMEDCT_2005_07_31:110979008] DOID:2773 contact dermatitis Dermatitis, venenata NOS EXACT [MTHICD9_2006:692.9] DOID:2775 long bone adamantinoma An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970057-2] adamantinoma of long bones (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:56763007] DOID:2776 adamantinoma A bone cancer that is located_in almost exclusively in the long bones. [url:http\://emedicine.medscape.com/article/385977-overview] DOID:2777 malignant neoplasm of short bones of upper limb malignant neoplasm of short bone of upper limb EXACT [SNOMEDCT_2005_07_31:94004004] DOID:2778 tumors of body of uterus, with delivery DOID:2779 tumors of body of uterus complicating pregnancy, childbirth, or the puerperium DOID:2780 rectosigmoid junction neoplasm Rectosigmoid tumor EXACT [NCI2004_11_17:C4877] DOID:2781 rectosigmoid cancer DOID:2782 rectosigmoid junction cancer malignant tumor of rectosigmoid junction (disorder) EXACT [SNOMEDCT_2005_07_31:363414004] DOID:2784 lung sarcoma A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. [url:http\://www.asco.org/ASCOv2/Meetings/Abstracts?&vmview=abst_detail_view&confID=26&abstractID=4315] pulmonary sarcoma EXACT [NCI2004_11_17:C4860] DOID:2785 Dandy-Walker syndrome Dandy-Walker syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:14447001] DOID:2786 cerebellar disease cerebellar disorder EXACT [CSP2005:0485-3992] DOID:2788 Ciliophora infectious disease An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. [url:http\://en.wikipedia.org/wiki/Ciliate] DOID:2789 parasitic protozoa infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. [url:http\://en.wikipedia.org/wiki/Protozoan, url:http\://en.wikipedia.org/wiki/Protozoan_infection] sarcomastigophora infectious disease EXACT [] DOID:2790 necatoriasis A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. [url:http\://en.wikipedia.org/wiki/Necator_americanus] DOID:2791 hookworm infectious disease A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. [url:http\://en.wikipedia.org/wiki/Hookworm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm] ancylostomiasis and necatoriasis EXACT [] DOID:2797 idiopathic interstitial pneumonia A pneumonia located_in the lung parenchyma of unknown cause. [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] IPF RELATED [CSP2005:4008-0052] DOID:2799 bronchiolitis obliterans A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans] Obliterative bronchiolitis EXACT [SNOMEDCT_2005_07_31:40100001] DOID:28 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. [url:http\://en.wikipedia.org/wiki/Endocrine_system] DOID:280 ear tuberculosis tuberculosis of ear EXACT [] DOID:2800 acute interstitial pneumonia A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. [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] Idiopathic pulmonary fibrosis, acute fatal form EXACT [SNOMEDCT_2005_07_31:236302005] DOID:2801 nonspecific interstitial pneumonia An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh] NSIP EXACT [] DOID:2809 primary Bartonellaceae infectious disease DOID:2810 middle lobe syndrome A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. [url:http\://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf] DOID:2814 malignant neoplasm of acoustic nerve malignant tumour of acoustic vestibular nerve EXACT [SNOMEDCT_2005_07_31:188310002] DOID:2815 cranial nerve malignant neoplasm malignant tumor of the Cranial nerve EXACT [NCI2004_11_17:C3571] DOID:2816 malignant oculomotor nerve tumor primary malignant neoplasm of oculomotor nerve (disorder) EXACT [SNOMEDCT_2005_07_31:93929003] DOID:2817 cranial nerve III tumor Oculomotor nerve tumor EXACT [NCI2004_11_17:C6994] DOID:2825 nose disease nasal disorder EXACT [CSP2005:1997-0936] DOID:2828 acalculous cholecystitis cholecystitis without calculus (disorder) EXACT [SNOMEDCT_2005_07_31:19968009] DOID:283 leukemic reticuloendotheliosis of intra-abdominal lymph nodes Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:188647005] DOID:2832 geotrichosis An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. [url:http\://medind.nic.in/iav/t03/i2/iavt03i2p72.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Hyphomycetes_%28hyaline%29/Geotrichum/] Geotrichosis (disorder) EXACT [SNOMEDCT_2005_07_31:13969006] DOID:2833 dehydration polycythemia DOID:2834 acquired polycythemia secondary polycythemia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:191374009] DOID:2835 polycythemia due to hypoxia DOID:2838 stress polycythemia Stress polycythemia [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:191371001] DOID:2839 erythropoietin polycythemia secondary polycythemia with excess erythropoietin (disorder) EXACT [SNOMEDCT_2005_07_31:367328005] DOID:284 malignant neoplasm of abdomen malignant tumor of abdomen (disorder) EXACT [SNOMEDCT_2005_07_31:188366002] DOID:2841 asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. [url:http\://www.aaaai.org/patients/topicofthemonth/0107/, url:http\://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html] exercise-induced asthma EXACT [] DOID:2842 Jervell-Lange Nielsen syndrome Jervell and Lange-Nielson syndrome (finding) EXACT [SNOMEDCT_2005_07_31:49518001] DOID:2843 long QT syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). [url:http\://en.wikipedia.org/wiki/Long_QT_syndrome] Romano-Ward syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:20852007] DOID:2846 bruxism A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. [url:http\://en.wikipedia.org/wiki/Bruxism] Teeth grinding EXACT [MTHICD9_2006:306.8] DOID:2848 melancholia DOID:285 hairy cell leukemia DOID:2853 atrophy of thyroid Thyroid atrophy (disorder) EXACT [SNOMEDCT_2005_07_31:190309006] DOID:2855 hyperthyroxinemia DOID:2856 euthyroid sick syndrome Sick-euthyroid syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:237542005] DOID:2857 abscess of thyroid Thyroid gland abscess EXACT [NCI2004_11_17:C27115] DOID:2859 hemoglobin C disease Hemoglobin C disease (disorder) EXACT [SNOMEDCT_2005_07_31:51053007] DOID:2860 hemoglobinopathy hemoglobinopathies EXACT [] DOID:2861 congenital nonspherocytic hemolytic anemia HNSHA (disorder) EXACT [SNOMEDCT_2005_07_31:300389006] DOID:2862 glucosephosphate dehydrogenase deficiency A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency] Glucose-6-phosphate dehydrogenase deficiency EXACT [SNOMEDCT_2005_07_31:62403005] DOID:287 vision disorder visual disorder RELATED [SNOMEDCT_2005_07_31:40031005] DOID:2870 endometrial adenocarcinoma An endometrial carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] endometrioid carcinoma of Endometrium EXACT [NCI2004_11_17:C6287] DOID:2871 endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus. [url:http\://www.cancer.gov/cancertopics/types/endometrial] endometrioid carcinoma of female Reproductive system EXACT [NCI2004_11_17:C3769] DOID:2873 metastatic tumor to the larynx DOID:2874 metastasis to the neck metastatic tumor to the neck EXACT [NCI2004_11_17:C8528] DOID:2876 laryngeal squamous cell carcinoma A laryngeal carcinoma that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] squamous cell carcinoma of larynx (disorder) EXACT [SNOMEDCT_2005_07_31:405822008] DOID:2877 larynx sarcoma A larynx cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm. [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20larynx&c=pc&ss=] sarcoma of larynx EXACT [NCI2004_11_17:C6020] DOID:2878 throat carcinoma DOID:2879 nodular degeneration of cornea DOID:288 endometriosis of uterus uterine Adenomyosis EXACT [NCI2004_11_17:C6996] DOID:2880 Hantavirus infectious disease A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. [url:http\://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome] DOID:2882 Cysts of iris, ciliary body and anterior chamber Cysts of iris, ciliary body, and anterior chamber EXACT [ICD9CM_2006:364.6] DOID:2883 prostatic adenoma prostate adenoma EXACT [NCI2004_11_17:C4795] DOID:2885 benign prostate phyllodes tumor prostate phyllodes tumor EXACT [] DOID:2887 prostate leiomyoma Prostatic leiomyoma EXACT [NCI2004_11_17:C5544] DOID:2889 retrocochlear disease DOID:289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. [PMID:20574791, url:https\://en.wikipedia.org/?title=Endometriosis] DOID:2890 primary Klebsiella infectious disease DOID:2891 thyroid adenoma adenoma of thyroid gland EXACT [SNOMEDCT_2005_07_31:189174004] DOID:2892 exocervical carcinoma carcinoma of the Exocervix EXACT [NCI2004_11_17:C7453] DOID:2893 cervix carcinoma A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Cervical_cancer] carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C9039] DOID:2898 commensal streptococcal infectious disease Streptococcus infection EXACT [CSP2005:0368-3452] DOID:2905 commensal Escherichia coli infectious disease Infection due to Escherichia coli (disorder) EXACT [SNOMEDCT_2005_07_31:71057007] DOID:2906 Rhabditida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. [url:http\://en.wikipedia.org/wiki/Rhabditida] DOID:2907 Goldenhar syndrome A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. [url:http\://en.wikipedia.org/wiki/Goldenhar_syndrome, url:http\://www.faces-cranio.org/Disord/Golden.htm, url:http\://www.healthline.com/galecontent/goldenhar-syndrome] Otomandibular dysostosis (disorder) EXACT [SNOMEDCT_2005_07_31:109393007] DOID:2908 Treacher Collins syndrome mandibulofacial dysostosis EXACT [] DOID:2910 septic abortion Septic abortion (disorder) EXACT [SNOMEDCT_2005_07_31:8272009] DOID:2913 acute pancreatitis PANCREATITIS NECROTIZING EXACT [MTH:NOCODE] DOID:2914 immune system disease A disease of anatomical entity that is located_in the immune system. [url:http\://en.wikipedia.org/wiki/Immune_system] DOID:2916 hypersensitivity reaction type IV disease immunoproliferative disease RELATED [] DOID:2917 cryoglobulinemia A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Cryoglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000540.htm] Cryoimmunoglobulinaemia EXACT [SNOMEDCT_2005_07_31:30911005] DOID:2918 paraproteinemia A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. [url:http\://en.wikipedia.org/wiki/Paraproteinemia] Paraproteinemia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190816000] DOID:292 lacrimal system cancer tumor of the lacrimal system EXACT [NCI2004_11_17:C5102] DOID:2920 membranoproliferative glomerulonephritis Lobular glomerulonephritis EXACT [SNOMEDCT_2005_07_31:80321008] DOID:2921 glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney. [sn:IEDB, url:http\://en.wikipedia.org/wiki/Glomerulonephritis] DOID:2926 Klippel-Trenaunay syndrome A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. [url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome, url:http\://omim.org/entry/149000] Klippel-Trenaunay-Weber syndrome EXACT [] DOID:2929 Newcastle disease A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. [url:http\://en.wikipedia.org/wiki/Newcastle_disease, url:http\://www.daff.gov.au/animal-plant-health/pests-diseases-weeds/animal/newcastle, url:http\://www.inspection.gc.ca/english/sci/bio/anima/disemala/newcaste.shtml] Pseudo-fowlpest EXACT [SNOMEDCT_2005_07_31:231859001] DOID:293 lacrimal gland carcinoma carcinoma of the lacrimal gland EXACT [NCI2004_11_17:C6129] DOID:2930 Avulavirus infectious disease A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. [url:http\://www.expasy.ch/viralzone/all_by_species/84.html] DOID:2934 aleutian mink disease A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. [url:http\://en.wikipedia.org/wiki/Aleutian_Disease, url:http\://www.cdc.gov/eid/content/15/12/2040.htm] Aleutian disease (disorder) EXACT [SNOMEDCT_2005_07_31:62251004] DOID:2935 Chediak-Higashi syndrome An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene. [PMID:25129365, url:http\://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome] CHS EXACT [] DOID:2936 Parvoviridae infectious disease A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. [url:http\://en.wikipedia.org/wiki/Parvoviridae] DOID:2937 Human herpesvirus 8 infectious disease A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. [url:http\://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320] DOID:2938 Epstein-Barr virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva. [url:http\://www.cdc.gov/ncidod/diseases/ebv.htm] Tumor Virus Infections RELATED [] DOID:2939 Herpesviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. [url:http\://en.wikipedia.org/wiki/Herpesviridae] Herpesvirus infection (disorder) EXACT [SNOMEDCT_2005_07_31:23513009] DOID:294 lacrimal gland cancer tumor of the lacrimal gland EXACT [NCI2004_11_17:C4360] DOID:2942 bronchiolitis A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. [url:http\://en.wikipedia.org/wiki/Bronchiolitis] DOID:2943 Poxviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. [url:http\://en.wikipedia.org/wiki/Poxviridae] Poxviridae disease EXACT [CSP2005:3100-0734] DOID:2945 severe acute respiratory syndrome A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. [url:http\://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS] SARS-CoV infection EXACT [SNOMEDCT_2005_07_31:398447004] DOID:2946 coronavirus infectious disease A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. [url:http\://en.wikipedia.org/wiki/Coronavirus] DOID:2947 Yellow fever virus infectious disease A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. [url:http\://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html] DOID:2948 Coronaviridae infectious disease A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. [url:http\://en.wikipedia.org/wiki/Coronaviridae] DOID:2949 Nidovirales infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. [url:http\://en.wikipedia.org/wiki/Nidovirales] DOID:295 eye carcinoma An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. [url:http\://www.cancer.gov/dictionary/?CdrID=444991] Ocular carcinoma EXACT [NCI2004_11_17:C6079] DOID:2950 Orbivirus infectious disease A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. [url:http\://en.wikipedia.org/wiki/Orbivirus] DOID:2951 motion sickness Travel sickness, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:269278001] DOID:2952 inner ear disease Inner ear disorder EXACT [NCI2004_11_17:C27166] DOID:2956 intra-abdominal lymphangioma DOID:2957 pulmonary tuberculosis A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. [url:http\://www.cdc.gov/tb/publications/factsheets/general/tb.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis] DOID:2958 environmental illness DOID:2959 hyperimmunoglobulin syndrome DOID:296 mixed lacrimal gland cancer malignant mixed neoplasm of lacrimal gland EXACT [NCI2004_11_17:C6090] DOID:2960 photosensitive trichothiodystrophy trichothiodystrophy with congenital ichthyosis EXACT [] DOID:2961 DNA repair deficiency A monogenic disease that results from a reduced functionality of DNA repair. [url:http\://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder] DNA Repair disorder EXACT [NCI2004_11_17:C7757] DOID:2962 Cockayne syndrome An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:http\://en.wikipedia.org/wiki/ERCC6, url:http\://en.wikipedia.org/wiki/ERCC8, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411] Cockayne's syndrome RELATED [CSP2005:0977-5812] DOID:2964 periarthritis DOID:2965 bursitis Bursitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:268000007] DOID:297 pleomorphic adenoma carcinoma carcinoma in pleomorphic adenoma EXACT [SNOMEDCT_2005_07_31:189811003] DOID:2972 renal artery obstruction DOID:2973 kidney cortex necrosis renal cortical necrosis EXACT [SNOMEDCT_2005_07_31:45456005] DOID:2974 multicystic dysplastic kidney Multicystic kidney (disorder) EXACT [SNOMEDCT_2005_07_31:204962002] DOID:2975 cystic kidney disease renal Cyst EXACT [NCI2004_11_17:C3970] DOID:2976 glomerular vascular disorder DOID:2977 primary hyperoxaluria DOID:2978 carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism] inborn errors of carbohydrate metabolism EXACT [] DOID:298 lacrimal gland adenocarcinoma A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of lacrimal gland RELATED [] DOID:2980 bone marrow tansplantation nephropathy DOID:2981 kidney papillary necrosis renal PAPILLITIS NECROTIZING EXACT [MTH:NOCODE] DOID:2982 perinephritis DOID:2983 anuria Suppression of urinary secretion EXACT [MTHICD9_2006:788.5] DOID:2985 chronic rejection of renal transplant chronic rejection of renal transplant (disorder) EXACT [SNOMEDCT_2005_07_31:236578006] DOID:2986 IgA glomerulonephritis A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. [url:http\://en.wikipedia.org/wiki/IgA_nephropathy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000466.htm] segmental glomerulonephritis EXACT [CSP2005:1681-9807] DOID:2987 familial Mediterranean fever A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. [url:http\://en.wikipedia.org/wiki/Familial_Mediterranean_fever, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract] benign paroxysmal peritonitis EXACT [MTHICD9_2006:277.3] DOID:2988 antiphospholipid syndrome A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). [ls:IEDB, url:http\://en.wikipedia.org/wiki/Antiphospholipid_syndrome] Antiphospholipid syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:26843008] DOID:2989 Atypical small acinar proliferation of the prostate gland Prostatic Atypical small acinar Proliferation EXACT [NCI2004_11_17:C37268] DOID:299 adenocarcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinomas EXACT [SNOMEDCT_2005_07_31:189578007] DOID:2990 tumor of specialized prostatic stroma DOID:2991 stromal neoplasm stromal tumors EXACT [NCI2004_11_17:C6781] DOID:2992 prostate neuroendocrine neoplasm neuroendocrine tumor of the prostate EXACT [NCI2004_11_17:C5545] DOID:2994 germ cell cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor] malignant tumor of the germ cell EXACT [NCI2004_11_17:C4925] DOID:2995 ovarian mixed germ cell-sex cord neoplasm Ovarian mixed germ cell-Sex Cord tumor EXACT [NCI2004_11_17:C7321] DOID:2996 mixed germ cell-sex cord neoplasm mixed germ cell-sex cord-stromal tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:406096006] DOID:2997 Sertoli-Leydig cell tumor DOID:2998 testicular cancer A male reproductive system cancer that is located_in the testicles. [url:http\://www.cancer.gov/dictionary?CdrID=445090] testis neoplasm EXACT [CSP2005:2016-2999] DOID:2999 granulosa cell tumor malignant granulosa cell neoplasm EXACT [] DOID:3 disease by environmental exposure A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. [DO:wk\,ls, URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=environment] environmentally induced disease EXACT [] DOID:3001 female reproductive endometrioid cancer female reproductive endometrioid neoplasm RELATED [] DOID:3002 ovary neuroendocrine neoplasm neuroendocrine tumor of Ovary EXACT [NCI2004_11_17:C5237] DOID:3003 nipple neoplasm tumor of Nipple EXACT [NCI2004_11_17:C5212] DOID:3004 breast myoepithelial neoplasm DOID:3007 breast ductal carcinoma A breast carcinoma that derives_from the lining of milk ducts. [url:http\://cancergenome.nih.gov/cancersselected/breastductal, url:http\://www.cancer.gov/dictionary?CdrID=45085] duct carcinoma, NOS EXACT [SNOMEDCT_2005_07_31:82711006] DOID:3008 invasive ductal carcinoma Invasive ductal carcinoma, NST EXACT [NCI2004_11_17:C4194] DOID:3009 breast neuroendocrine neoplasm neuroendocrine tumor of the breast EXACT [NCI2004_11_17:C5169] DOID:3010 lobular neoplasia Lobular Intraepithelial Neoplasia EXACT [NCI2004_11_17:C27939] DOID:3011 breast granular cell tumor DOID:3012 Li-Fraumeni syndrome An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. [url:http\://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome, url:http\://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome] SBLA syndrome EXACT [] DOID:3013 intraductal breast neoplasm DOID:3015 breast papillary neoplasm Papillary tumor of breast EXACT [NCI2004_11_17:C5206] DOID:3016 breast malignant phyllodes tumor Phyllodes tumor, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:87913009] DOID:3017 breast sarcoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. [url:http\://en.wikipedia.org/wiki/Sarcoma] sarcoma of breast (disorder) EXACT [SNOMEDCT_2005_07_31:278050001] DOID:3019 postpartum acute renal failure DOID:302 substance abuse A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. [url:http\://allpsych.com/disorders/substance/substanceabuse.html, url:http\://en.wikipedia.org/wiki/Substance_abuse] DOID:3020 Complication of labor and/or delivery DOID:3021 acute kidney failure DOID:3022 complication of the puerperium DOID:3024 prostatic acinar adenocarcinoma Prostatic acinar adenocarcinoma EXACT [NCI2004_11_17:C5596] DOID:3025 acinar cell carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. [url:http\://radiology.rsna.org/content/232/2/554.full] acinic cell carcinoma EXACT [NCI2004_11_17:C3768] DOID:3026 metastatic prostatic adenocarcinoma DOID:3027 metastatic adenocarcinoma adenocarcinoma, metastatic, NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189584005] DOID:3028 intramucosal adenocarcinoma colon adenoma Colonic adenoma with Intramucosal adenocarcinoma EXACT [NCI2004_11_17:C27413] DOID:3029 colon mucinous adenocarcinoma Colonic mucinous adenocarcinoma EXACT [NCI2004_11_17:C7966] DOID:303 substance-related disorder A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. [url:http\://allpsych.com/disorders/substance/index.html] DOID:3030 mucinous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. [url:http\://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm, url:http\://medical-dictionary.thefreedictionary.com/mucinous+carcinoma] Pseudomyxoma peritonei with unknown primary site EXACT [SNOMEDCT_2005_07_31:72495009] DOID:3033 colon signet ring adenocarcinoma Colonic Signet Ring adenocarcinoma EXACT [NCI2004_11_17:C7967] DOID:3038 submucosal invasive colon adenocarcinoma DOID:3039 cecum adenocarcinoma A cecum carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Cecal adenocarcinoma EXACT [NCI2004_11_17:C5543] DOID:3042 allergic contact dermatitis A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_contact_dermatitis] Allergic contact dermatitis (disorder) EXACT [SNOMEDCT_2005_07_31:238575004] DOID:3044 food allergy A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. [url:http\://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx] food hypersensitivity EXACT [CSP2005:1525-0902] DOID:3047 Wissler's syndrome A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia. [url:http\://en.wikipedia.org/wiki/Wissler%27s_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/8150635] Wissler-Fanconi syndrome (finding) EXACT [SNOMEDCT_2005_07_31:68190001] DOID:3049 Churg-Strauss syndrome A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. [url:http\://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/, url:http\://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855] Churg-Strauss vasculitis EXACT [SNOMEDCT_2005_07_31:195362002] DOID:305 carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] malignant Epithelioma EXACT [NCI2004_11_17:C6927] DOID:3052 Balkan nephropathy An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. [url:http\://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy] DEFN RELATED [] DOID:3055 paratyphoid fever A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. [url:http\://en.wikipedia.org/wiki/Paratyphoid_fever] Paratyphoid fever C EXACT [ICD9CM_2006:002.3] DOID:3056 Paramyxoviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. [url:http\://en.wikipedia.org/wiki/Paramyxoviridae] DOID:306 dyskinetic syndrome Dyskinesia EXACT [SNOMEDCT_2005_07_31:206824003] DOID:3067 taste disorder taste disorder EXACT [CSP2005:2683-4340] DOID:3068 glioblastoma multiforme An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes. [url:http\://cancergenome.nih.gov/cancersselected/glioblastomamultiforme, url:http\://en.wikipedia.org/wiki/Glioblastoma_multiforme, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] spongioblastoma multiforme EXACT [CSP2005:2012-6410] DOID:3069 astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum. [url:http\://en.wikipedia.org/wiki/Astrocytoma, url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors] cerebral astrocytoma EXACT [] DOID:3070 malignant glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. [url:http\://en.wikipedia.org/wiki/Malignant_glioma] Neuroglial tumor EXACT [NCI2004_11_17:C3059] DOID:3071 gliosarcoma Glioblastoma with sarcomatous component EXACT [SNOMEDCT_2005_07_31:189918008] DOID:3072 secondary glioblastoma multiforme DOID:3073 brain glioblastoma multiforme Glioblastoma multiforme of brain (disorder) EXACT [SNOMEDCT_2005_07_31:276828006] DOID:3074 giant cell glioblastoma A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. [url:http\://en.wikipedia.org/wiki/Giant-cell_glioblastoma, url:http\://neuro-oncology.oxfordjournals.org/content/11/6/833.full] Monstrocellular sarcoma [obs] EXACT [SNOMEDCT_2005_07_31:44529004] DOID:3076 adult astrocytic tumour adult astrocytoma EXACT [NCI2004_11_17:C7049] DOID:3077 anaplastic childhood astrocytoma Undifferentiated pediatric astrocytoma EXACT [NCI2004_11_17:C6215] DOID:3078 grade III astrocytoma An astrocytoma that is characterized by cells with regular, round to oval nuclei. [url:http\://en.wikipedia.org/wiki/Anaplastic_astrocytoma, url:http\://www.abta.org/brain-tumor-information/types-of-tumors/astrocytoma.html, url:http\://www.cancer.gov/dictionary?CdrID=45591] grade III Astrocytic tumor EXACT [NCI2004_11_17:C9477] DOID:3079 juvenile astrocytoma pediatric astrocytoma EXACT [NCI2004_11_17:C9022] DOID:308 early myoclonic encephalopathy Myoclonic seizure disorder EXACT [SNOMEDCT_2005_07_31:37356005] DOID:3081 cystic lymphangioma cystic lymphangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:40225001] DOID:3082 interstitial lung disease ILD EXACT [CSP2005:4007-0072] DOID:3083 chronic obstructive pulmonary disease COPD EXACT [NCI2004_11_17:C3199] DOID:3086 gingival overgrowth Gingival enlargement NOS (disorder) EXACT [SNOMEDCT_2005_07_31:271083000] DOID:3087 gingivitis chronic gingivitis EXACT [ICD9CM_2006:523.1, SNOMEDCT_2005_07_31:155644005, SNOMEDCT_2005_07_31:196355002, SNOMEDCT_2005_07_31:266490003] DOID:3089 granulomatous orchitis Non-Specific Granulomatous Orchitis EXACT [NCI2004_11_17:C27162] DOID:3090 testicular non-neoplastic disease DOID:3091 Acinetobacter infectious disease DOID:3092 opportunistic Moraxellaceae infectious disease DOID:3093 nervous system cancer An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. [url:http\://emedicine.medscape.com/oncology, url:http\://en.wikipedia.org/wiki/Nervous_system_disease] tumor of the nervous system EXACT [NCI2004_11_17:C3268] DOID:3094 neuroepithelial neoplasm tumor of Neuroepithelium EXACT [NCI2004_11_17:C3787] DOID:3095 germ cell and embryonal cancer A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells. [url:http\://en.wikipedia.org/wiki/Germ_cell] germ cell and embryonal neoplasm RELATED [] DOID:3096 stenosis of lacrimal sac DOID:3097 stenosis and insufficiency of lacrimal passage Stenosis of lacrimal passages EXACT [SNOMEDCT_2005_07_31:267739007] DOID:3098 small cell sarcoma DOID:310 MERRF syndrome Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) EXACT [MTHICD9_2006:277.87] DOID:3100 Ureaplasma urealyticum urethritis DOID:3101 primary Mycoplasmatales infectious disease DOID:3102 cervical rib syndrome Arterial thoracic outlet syndrome due to cervical rib EXACT [SNOMEDCT_2005_07_31:413577001] DOID:3103 thoracic outlet syndrome A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. [url:http\://en.wikipedia.org/wiki/Thoracic_outlet_syndrome] TOS - Thoracic outlet syndrome EXACT [SNOMEDCT_2005_07_31:212769008] DOID:3106 Nematoda infectious disease A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. [url:http\://en.wikipedia.org/wiki/Nematode, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783] Roundworm infection EXACT [MTHICD9_2006:127.0] DOID:3107 toxascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. [url:http\://en.wikipedia.org/wiki/Toxascaris_leonina] DOID:3108 ascaridiasis A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. [url:http\://www.ncbi.nlm.nih.gov/pubmed/18367882] DOID:3109 idiopathic CD4-positive T-lymphocytopenia A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. [url:http\://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia] DOID:3110 papillary cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. [url:http\://www.sciencedirect.com/science/article/pii/S1741940905000841] Papillary cystadenocarcinoma, NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189687009] DOID:3111 cystadenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. [url:http\://en.wikipedia.org/wiki/Cystadenocarcinoma] cystadenocarcinoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189681005] DOID:3112 papillary adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. [url:http\://en.wikipedia.org/wiki/Papillary_adenocarcinoma] Papillary adenocarcinoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189621008] DOID:3113 papillary carcinoma A carcinoma that is derived_from epithelial cells with finger like projections. [url:http\://breastcancer.about.com/od/types/p/papillary_ca.htm] Papillary carcinoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189562005] DOID:3114 serous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. [url:http\://ukpmc.ac.uk/abstract/MED/16025006] serous cystadenocarcinoma, NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189685001] DOID:3115 urinary tract transitional cell cancer transitional cell neoplasm of the urinary tract RELATED [] DOID:3116 kidney benign neoplasm renal and ureteral tumor EXACT [NCI2004_11_17:C7514] DOID:3117 hepatobiliary benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system] hepatobiliary tumors EXACT [NCI2004_11_17:C8614] DOID:3118 hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract. [url:http\://en.wikipedia.org/wiki/Hepato-biliary_diseases] liver and biliary tract disease EXACT [] DOID:3119 gastrointestinal system cancer An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] GI tumor EXACT [NCI2004_11_17:C3052] DOID:312 tenosynovitis of foot and ankle DOID:3120 gallbladder papillomatosis DOID:3121 gallbladder cancer A biliary tract cancer that is located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Gallbladder] tumor of the gallbladder EXACT [NCI2004_11_17:C3048] DOID:3122 gastric outlet obstruction gastric outflow obstruction EXACT [SNOMEDCT_2005_07_31:196759006] DOID:3125 multiple endocrine neoplasia Multiple endocrine adenomatosis EXACT [SNOMEDCT_2005_07_31:190566000] DOID:3127 proctitis A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. [url:http\://www.cdc.gov/std/Treatment/2006/proctitis.htm, url:http\://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361] Proctitis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197229007] DOID:3128 anus disease Ulcer of anus (disorder) EXACT [SNOMEDCT_2005_07_31:20928004] DOID:313 synovitis and tenosynovitis DOID:3132 porphyria cutanea tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. [url:http\://en.wikipedia.org/wiki/Porphyria_cutanea_tarda, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract] DOID:3133 acute porphyria A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. [url:http\://emedicine.medscape.com/article/957604-overview, url:http\://en.wikipedia.org/wiki/Porphyria, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html] hepatic porphyria (disorder) EXACT [SNOMEDCT_2005_07_31:55056006] DOID:3134 facial dermatosis DOID:3136 scalp dermatosis Dermatosis of scalp (disorder) EXACT [SNOMEDCT_2005_07_31:402694007] DOID:3137 multiple symmetrical lipomatosis Multiple symmetrical lipomatosis (disorder) EXACT [SNOMEDCT_2005_07_31:238902007] DOID:3138 acanthosis nigricans keratosis nigricans EXACT [CSP2005:2716-6089] DOID:314 tenosynovial giant cell tumor Giant cell tumor of Tenosynovium EXACT [NCI2004_11_17:C3402] DOID:3140 scleredema adultorum Buschke's scleredema EXACT [CSP2005:2716-6810] DOID:3141 mucinoses DOID:3142 leg dermatosis DOID:3143 eczematous skin disease Dermatitis due to other radiation NOS EXACT [MTHICD9_2006:692.82] DOID:3144 cutis laxa A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. [url:http\://en.wikipedia.org/wiki/Cutis_laxa, url:http\://ghr.nlm.nih.gov/condition/cutis-laxa, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract] loose skin EXACT [CSP2005:2716-6258] DOID:3145 hyperlipoproteinemia type III Remnant hyperlipidemia EXACT [NCI2004_11_17:C34710] DOID:3146 lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids. [url:http\://en.wikipedia.org/wiki/Lipid_metabolism] fatty acid metabolism disorder EXACT [] DOID:3148 dermal unilateral segmental cavernous angioma Unilateral Segmental Cavernous hemangioma of the skin EXACT [NCI2004_11_17:C4750] DOID:3149 keratoacanthoma DOID:315 synovium neoplasm tumor of Synovium EXACT [NCI2004_11_17:C8964] DOID:3151 skin squamous cell carcinoma A skin carcinoma that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] squamous cell carcinoma of skin RELATED [] DOID:3153 lipomatosis Lipomatosis (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:37095002] DOID:3156 incontinentia pigmenti achromians nevus of Ito (disorder) EXACT [SNOMEDCT_2005_07_31:48543002] DOID:3157 congenital melanocytic nevus Congenital Pigmented skin nevus EXACT [NCI2004_11_17:C3944] DOID:3158 hand dermatosis DOID:3159 photosensitivity disease Photodermatitis (disorder) EXACT [SNOMEDCT_2005_07_31:22649008] DOID:3162 malignant spindle cell melanoma A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. [url:http\://www.skincancer.org/ask-the-expert-what-is-spindle-cell-melanoma.html] Spitzoid malignant melanoma EXACT [SNOMEDCT_2005_07_31:68827007] DOID:3163 spindle cell cancer A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. [url:http\://www.cancer.gov/dictionary/?CdrID=44506] malignant tumor, fusiform cell type (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:88897007] DOID:3164 Hair nevus Nevoid hypertrichosis EXACT [NCI2004_11_17:C3074] DOID:3165 skin benign neoplasm tumor of the skin EXACT [NCI2004_11_17:C3372] DOID:3166 leukemoid reaction transient myeloproliferative disorder RELATED [] DOID:3168 squamous cell neoplasm A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] squamous cell tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134208005] DOID:3169 papillary epithelial neoplasm DOID:3171 respiratory tract papilloma papilloma of the respiratory tract EXACT [NCI2004_11_17:C8295] DOID:3172 papillary adenoma Papillary adenoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189620009] DOID:3173 fallopian tube serous papilloma DOID:3177 verrucous papilloma DOID:3178 skin papilloma skin papilloma NOS EXACT [SNOMEDCT_2005_07_31:154613008] DOID:3179 inverted papilloma Inverted papilloma, squamous cell EXACT [SNOMEDCT_2005_07_31:90121000] DOID:318 progressive muscular atrophy Pure progressive muscular atrophy EXACT [MTHICD9_2006:335.21] DOID:3181 oligodendroglioma oligodendroglial tumor EXACT [NCI2004_11_17:C6960] DOID:3183 childhood oligodendroglioma pediatric Oligodendroglioma EXACT [NCI2004_11_17:C4045] DOID:3184 spinal cord oligodendroglioma Well differentiated Spinal Cord Oligodendroglioma EXACT [NCI2004_11_17:C4535] DOID:3185 spinal cord glioma A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. [url:http\://www.cancer.gov/dictionary?CdrID=45700] glioma of spinal cord (disorder) EXACT [SNOMEDCT_2005_07_31:254947008] DOID:3186 adult oligodendroglioma grade II adult Oligodendroglial tumor EXACT [NCI2004_11_17:C4014] DOID:3187 brain oligodendroglioma A brain glioma that has_material_basis_in oligodendrocytes. [url:http\://www.cancer.gov/dictionary?CdrID=46257] Oligodendroglioma of brain (disorder) EXACT [SNOMEDCT_2005_07_31:254940005] DOID:319 spinal cord disease myelopathy RELATED [] DOID:3191 nemaline myopathy A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. [url:http\://en.wikipedia.org/wiki/Nemaline_myopathy, url:http\://ghr.nlm.nih.gov/condition/nemaline-myopathy, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract] rod myopathy EXACT [] DOID:3192 neurilemmoma schwannoma EXACT [NCI2004_11_17:C3269] DOID:3193 peripheral nerve sheath neoplasm A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. [url:http\://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor] nerve sheath tumour EXACT [SNOMEDCT_2005_07_31:189946005] DOID:3196 cellular schwannoma A neurilemmoma with a predominantly cellular growth but no Verocay bodies. [url:http\://www.ncbi.nlm.nih.gov/pubmed/2400975] cellular Neurinoma EXACT [NCI2004_11_17:C4724] DOID:3197 schwannoma of twelfth cranial nerve Hypoglossal Schwannoma EXACT [NCI2004_11_17:C5434] DOID:3198 hypoglossal nerve neoplasm tumor of Hypoglossal nerve EXACT [NCI2004_11_17:C5830] DOID:3199 C-P angle neurinoma Cerebellopontine Angle Neurinoma EXACT [NCI2004_11_17:C5413] DOID:320 vascular myelopathy vascular myelopathy NOS (disorder) EXACT [SNOMEDCT_2005_07_31:192903006] DOID:3200 cerebellopontine angle tumor neoplasm of the Cerebellopontine Angle EXACT [NCI2004_11_17:C5414] DOID:3201 sympathetic neurilemmoma DOID:3202 neurilemmoma of the fifth cranial nerve Trigeminal schwannoma (disorder) EXACT [SNOMEDCT_2005_07_31:277185000] DOID:3203 macrocystic neurilemmoma DOID:3204 neurilemmomatosis Schwannomatosis EXACT [] DOID:3205 melanotic neurilemmoma Pigmented schwannoma EXACT [SNOMEDCT_2005_07_31:985004] DOID:3206 plexiform schwannoma Plexiform Schwannoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:253087008] DOID:3208 sensation disorder DOID:3209 junctional epidermolysis bullosa Congenital junctional epidermolysis bullosa (disorder) EXACT [SNOMEDCT_2005_07_31:79855003] DOID:321 tropical spastic paraparesis A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. [url:http\://en.wikipedia.org/wiki/Tropical_spastic_paraparesis, url:http\://www.merckmanuals.com/professional/sec16/ch224/ch224k.html] Tropical spastic paraplegia EXACT [SNOMEDCT_2005_07_31:192733005] DOID:3210 Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease (disorder) EXACT [SNOMEDCT_2005_07_31:64855000] DOID:3211 lysosomal storage disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. [url:http\://en.wikipedia.org/wiki/Lysosomal_storage_disease] lysosomal storage metabolism disorder EXACT [] DOID:3212 hereditary central nervous system demyelinating disease DOID:3213 demyelinating disease demyelinating disorder EXACT [NCI2004_11_17:C34527] DOID:3215 infectious bovine rhinotracheitis A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. [url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf, url:http\://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr] Infectious bovine rhinotracheitis (disorder) EXACT [SNOMEDCT_2005_07_31:68686002] DOID:3216 jejunal somatostatinoma Somatosatinoma of Jejunum EXACT [NCI2004_11_17:C5787] DOID:3217 small intestinal delta cell somatostatin producing tumor DOID:3218 jejunal neoplasm tumor of jejunum (disorder) EXACT [SNOMEDCT_2005_07_31:254575004] DOID:322 myelitis DOID:3222 causalgia Complex regional pain syndrome, type II (disorder) EXACT [SNOMEDCT_2005_07_31:408751001] DOID:3223 complex regional pain syndrome Complex regional pain syndromes (disorder) EXACT [SNOMEDCT_2005_07_31:128200000] DOID:3225 tracheal disease DOID:3227 tracheal stenosis Stenosis of trachea EXACT [SNOMEDCT_2005_07_31:11296007] DOID:3229 gastric dilatation stomach dilatation EXACT [CSP2005:1248-7212] DOID:323 Human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, 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 person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. [url:http\://emedicine.medscape.com/article/219285-overview] HTLV-I infectious disease EXACT [] DOID:3230 high pressure neurological syndrome DOID:3231 occupational disease occupational disorder EXACT [CSP2005:2119-9553] DOID:3234 central nervous system lymphoma A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. [url:http\://www.braintumor.org/CNSLymphoma/] primary CNS lymphoma EXACT [] DOID:3239 pigmented spindle cell nevus spindle cell nevus of Reed EXACT [] DOID:3240 aspiration pneumonitis A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. [url:http\://scalpel.stanford.edu/articles/aspiration--NEJM.pdf, url:http\://www.merck.com/mmpe/sec05/ch052/ch052f.html] Mendelson's Syndrome EXACT [] DOID:3241 lipid pneumonia An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. [url:http\://en.wikipedia.org/wiki/Lipid_pneumonia, url:http\://www.ima.org.il/imaj/ar06jan-8.pdf] Lipoid pneumonitis EXACT [SNOMEDCT_2005_07_31:416916004] DOID:3246 embryonal rhabdomyosarcoma A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. [url:http\://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1] DOID:3247 rhabdomyosarcoma A skeletal muscle cancer that arise from skeletal muscle progenitors. [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] DOID:3250 pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma, adult type EXACT [SNOMEDCT_2005_07_31:77455004] DOID:3251 prostate embryonal rhabdomyosarcoma A prostate rhabdomyosarcoma that is most common in children. [url:http\://www.google.com/search?hl=en&client=firefox-a&hs=SMK&rls=org.mozilla%3Aen-US%3Aofficial&q=rhabdomyosarcoma+of+prostate&aq=f&aqi=&aql=&oq=&gs_rfai=] Embryonal Rhabdomyosarcoma of the prostate EXACT [NCI2004_11_17:C5525] DOID:3252 prostate rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. [url:http\://emedicine.medscape.com/article/988803-overview] Rhabdomyosarcoma of the prostate EXACT [NCI2004_11_17:C5522] DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma Embryonal extrahepatic bile duct Rhabdomyosarcoma EXACT [NCI2004_11_17:C5847] DOID:3254 bile duct rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] rhabdomyosarcoma of the bile duct EXACT [NCI2004_11_17:C5860] DOID:3255 botryoid rhabdomyosarcoma sarcoma botryoides EXACT [SNOMEDCT_2005_07_31:14269005] DOID:3256 embryonal childhood rhabdomyosarcoma pediatric Embryonal Rhabdomyosarcoma EXACT [NCI2004_11_17:C7957] DOID:3257 pediatric rhabdomyosarcoma DOID:3258 orbit embryonal rhabdomyosarcoma Embryonal Rhabdomyosarcoma of the orbit EXACT [NCI2004_11_17:C6246] DOID:3259 orbit rhabdomyosarcoma Rhabdomyosarcoma of the orbit EXACT [NCI2004_11_17:C4543] DOID:326 ischemia A vascular disease that is characterized by a restriction in blood supply to tissues. [url:http\://en.wikipedia.org/wiki/Ischemia] DOID:3260 spindle cell rhabdomyosarcoma spindle cell rhabdomyosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128749008] DOID:3261 Job's syndrome Job syndrome EXACT [] DOID:3262 phagocyte bactericidal dysfunction A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. [url:http\://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction] phagocytic dysfunction EXACT [CSP2005:0427-7579] DOID:3263 piebaldism PIEBALD TRAIT EXACT [] DOID:3264 subacute leukemia A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. [url:http\://www.wrongdiagnosis.com/medical/subacute.htm] DOID:3265 chronic granulomatous disease A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. [url:http\://en.wikipedia.org/wiki/Chronic_granulomatous_disease, url:http\://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/682/viewAbstractare-diseases/byID/682/viewAbstract] Quie syndrome EXACT [] DOID:3267 mucinous ovarian cystadenoma Ovarian mucinous Cystadenoma EXACT [NCI2004_11_17:C4512] DOID:3269 ovarian cystadenoma simple cystoma of the ovary (disorder) EXACT [SNOMEDCT_2005_07_31:198297004] DOID:327 syringomyelia DOID:3274 proliferative type fibrocystic change of breast Proliferative Fibrocystic Change EXACT [NCI2004_11_17:C6940] DOID:3275 thymoma A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. [url:http\://cancergenome.nih.gov/cancersselected/Thymoma, url:http\://en.wikipedia.org/wiki/Thymoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1] DOID:3276 thymus epithelial cancer Thymic Epithelium neoplasm EXACT [NCI2004_11_17:C6450] DOID:3277 thymus cancer An immune system cancer located_in the thymus. [url:http\://en.wikipedia.org/wiki/Thymus] Thymic tumor EXACT [NCI2004_11_17:C3412] DOID:3278 encapsulated thymoma DOID:3279 spindle cell thymoma Thymoma, medullary EXACT [SNOMEDCT_2005_07_31:128707003] DOID:3280 mixed type thymoma Thymoma, mixed type EXACT [SNOMEDCT_2005_07_31:128709000] DOID:3281 combined thymoma DOID:3282 dendritic cell thymoma epithelioid Thymoma EXACT [NCI2004_11_17:C7114] DOID:3283 invasive malignant thymoma Thymoma malignant Invasive EXACT [NCI2004_11_17:C7904] DOID:3284 thymic carcinoma A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1] Thymoma, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:15949004] DOID:3292 monkeypox A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy. [url:http\://www.cdc.gov/ncidod/monkeypox/factsheet2.htm] DOID:3293 lumpy skin disease A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf] DOID:3295 fowlpox A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. [url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf] DOID:3296 infectious ectromelia A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. [url:http\://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg, url:http\://www.virologyj.com/content/6/1/151] Mousepox (disorder) EXACT [SNOMEDCT_2005_07_31:73233006] DOID:3297 infectious myxomatosis A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. [url:http\://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false] DOID:3298 vaccinia A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. [url:http\://en.wikipedia.org/wiki/Vaccinia, url:http\://www.bt.cdc.gov/agent/smallpox/vaccination/live-virus.asp] DOID:3299 Yersinia pseudotuberculosis infectious disease Pseudotuberculosis (disorder) EXACT [SNOMEDCT_2005_07_31:36753006] DOID:3300 Yersinia infectious disease Yersiniosis [Ambiguous] EXACT [SNOMEDCT_2005_07_31:240359002] DOID:3301 gonadoblastoma A cell type benign neoplasm that is composed_of a mixture of gonadal elements. [url:http\://en.wikipedia.org/wiki/Gonadoblastoma] DOID:3302 chordoma A notochordal cancer that derives_from cellular remnants of the notochord. [url:http\://en.wikipedia.org/wiki/Chordoma] notochordoma EXACT [CSP2005:2000-4323] DOID:3303 notochordal cancer An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. [url:http\://en.wikipedia.org/wiki/Notochord] notochordal tumor RELATED [] DOID:3304 germinoma A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. [url:http\://en.wikipedia.org/wiki/Germinoma] DOID:3305 teratocarcinoma A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed] Teratocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:67830002] DOID:3306 mixed germ cell cancer A germ cell cancer that occurs in many forms. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed] mixed teratoma and seminoma EXACT [SNOMEDCT_2005_07_31:32844007] DOID:3307 teratoma A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. [url:http\://en.wikipedia.org/wiki/Teratoma] Teratomas (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189844009] DOID:3308 embryonal carcinoma An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma] primary extragonadal embryonal carcinoma EXACT [] DOID:3309 neurodermatitis DOID:331 central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. [url:http\://en.wikipedia.org/wiki/Central_nervous_system_disease] DOID:3310 atopic dermatitis A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Atopic_dermatitis] Besnier's prurigo (disorder) EXACT [SNOMEDCT_2005_07_31:200773006] DOID:3312 bipolar disorder A mood disorder that involves alternating periods of mania and depression. [url:http\://en.wikipedia.org/wiki/Mood_disorder] mixed bipolar disorder EXACT [] DOID:3314 angiomyolipoma A cell type benign neoplasm that from perivascular epithelioid cells. [url:http\://en.wikipedia.org/wiki/Angiomyolipoma, url:http\:www.rsroc.org.tw/db/ejournal/article/V33/N4/330405.pdf] Angiomyolipoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:19929002] DOID:3315 lipoma A cell type benign neoplasm that is composed of lipocytes. [url:http\://en.wikipedia.org/wiki/Benign_tumor] tumor of adipose tissue (disorder) EXACT [SNOMEDCT_2005_07_31:254831005] DOID:3316 perivascular tumor malignant perivascular cancer EXACT [] DOID:3317 hepatic angiomyolipoma DOID:3318 epithelioid type angiomyolipoma DOID:3319 lymphangioleiomyomatosis pulmonary lymphangioleiomyomatosis EXACT [SNOMEDCT_2005_07_31:277844007] DOID:332 amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm] motor neuron disease, bulbar EXACT [MTHICD9_2006:335.20] DOID:3320 Tay-Sachs disease Tay-Sachs disease (disorder) EXACT [SNOMEDCT_2005_07_31:111385000] DOID:3321 gangliosidosis GM2 GM>2< gangliosidosis (disorder) EXACT [SNOMEDCT_2005_07_31:33316007] DOID:3322 gangliosidosis GM1 Landing syndrome EXACT [CSP2005:1849-8633] DOID:3323 Sandhoff disease Sandhoff Jatzkewitz disease EXACT [CSP2005:1849-8747] DOID:3324 mood disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. [url:http\://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml] episodic mood disorder EXACT [] DOID:3325 hyperglobulinemic purpura hyperglobulinemic purpura (disorder) EXACT [SNOMEDCT_2005_07_31:402852007] DOID:3326 purpura Purpuric disorder EXACT [SNOMEDCT_2005_07_31:387778001] DOID:3327 partial motor epilepsy Focal motor seizure, NOS EXACT [SNOMEDCT_2005_07_31:67139004] DOID:3328 temporal lobe epilepsy epilepsy, temporal lobe EXACT [MTHICD9_2006:345.4] DOID:3329 benign epilepsy with centrotemporal spikes sylvan seizures EXACT [] DOID:333 chronic factitious illness with physical symptoms DOID:3330 partial sensory epilepsy DOID:3331 frontal lobe epilepsy Frontal lobe epilepsy (disorder) EXACT [SNOMEDCT_2005_07_31:230394006] DOID:3332 haemonchiasis A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. [url:http\://en.wikipedia.org/wiki/Haemonchus_contortus] DOID:334 histrionic personality disorder A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. [url:http\://en.wikipedia.org/wiki/Histrionic_personality_disorder] DOID:3340 lymphangioendothelioma Lymphangioendothelioma, NOS EXACT [SNOMEDCT_2005_07_31:69044001] DOID:3341 osteitis fibrosa A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. [url:http\://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001252.htm, url:http\://www.umm.edu/ency/article/001252.htm] Von Recklinghausen's bone disease EXACT [SNOMEDCT_2005_07_31:190451000] DOID:3342 bone inflammation disease A bone disease that results_in inflammation of the located_in bone. [url:http\://en.wikipedia.org/wiki/Osteitis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteitis.aspx, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis] osteitis EXACT [CSP2005:2715-2703] DOID:3343 glycoproteinosis A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). [url:http\://en.wikipedia.org/wiki/Sialidosis, url:https\://en.wikipedia.org/wiki/Glycoproteinosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract] sialidosis EXACT [] DOID:3345 xanthomatosis A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. [url:http\://en.wikipedia.org/wiki/Xanthoma] xanthelasmatosis EXACT [CSP2005:1746-8555] DOID:3347 osteosarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin. [url:http\://en.wikipedia.org/wiki/Osteosarcoma, url:http\://www.cancer.gov/dictionary?cdrid=45395] Skeletal sarcoma EXACT [NCI2004_11_17:C9312] DOID:3349 osteogenic neoplasm Osteogenic tumor EXACT [NCI2004_11_17:C6603] DOID:3350 mesenchymal cell neoplasm A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. [url:http\://en.wikipedia.org/wiki/Mesenchymal_cell, url:http\://www.ncbi.nlm.nih.gov/books/NBK9549/] mesenchymal tumor EXACT [NCI2004_11_17:C7059] DOID:3351 bone angioendothelial sarcoma osseous hemangiosarcoma EXACT [NCI2004_11_17:C6479] DOID:3352 malignant fibrous histiocytoma of bone malignant fibrous Histiocytoma of the bone EXACT [NCI2004_11_17:C8563] DOID:3354 fibrosarcoma of bone Fibrosarcoma of the bone EXACT [NCI2004_11_17:C6604] DOID:3355 fibrosarcoma A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] fibrous tissue neoplasm EXACT [] DOID:3356 localized osteosarcoma localized Osteogenic sarcoma EXACT [NCI2004_11_17:C7780] DOID:3357 extraosseous osteosarcoma extraskeletal osteosarcoma (disorder) EXACT [SNOMEDCT_2005_07_31:404077005] DOID:3359 malignant extraskeletal cartilaginous and osseous tumor DOID:336 non-traumatic tendon rupture Nontraumatic rupture of tendons of biceps, long head EXACT [] DOID:3360 multifocal osteogenic sarcoma DOID:3361 pediatric osteosarcoma DOID:3362 coronary aneurysm Arteriovenous aneurysm of coronary vessels EXACT [MTHICD9_2006:414.11] DOID:3365 recurrent osteosarcoma relapsed Osteosarcoma EXACT [NCI2004_11_17:C7881] DOID:3367 bone leiomyosarcoma DOID:3368 bone Ewing's sarcoma A peripheral primitive neuroectodermal tumor that is located_in bone. [url:http\://en.wikipedia.org/wiki/Ewing%27s_sarcoma] Skeletal Ewing's tumor RELATED [NCI2004_11_17:C4835] DOID:3369 Ewing sarcoma A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. [url:http\://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor, url:http\://www.cancer.gov/dictionary?cdrid=383924] PNET of Thoracopulmonary Region EXACT [NCI2004_11_17:C7542] DOID:337 spinal accessory nerve neoplasm XIth Cranial nerve tumors EXACT [NCI2004_11_17:C5829] DOID:3371 chondrosarcoma A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage. [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] primary chondrosarcoma of the bone EXACT [NCI2004_11_17:C7155] DOID:3372 chondroblastic osteosarcoma chondrosarcomatous Osteogenic sarcoma EXACT [NCI2004_11_17:C4021] DOID:3373 juxtacortical osteosarcoma Parosteal Osteosarcoma EXACT [MTH:NOCODE] DOID:3374 peripheral osteosarcoma Surface Osteosarcoma EXACT [NCI2004_11_17:C7134] DOID:3376 bone osteosarcoma primary Osteosarcoma of bone EXACT [NCI2004_11_17:C4834] DOID:3377 small cell osteogenic sarcoma small cell Osteosarcoma EXACT [NCI2004_11_17:C4023] DOID:3378 conventional central osteosarcoma Medullary osteosarcoma EXACT [SNOMEDCT_2005_07_31:128770002] DOID:3379 metachronous osteosarcoma of the bone DOID:338 cranial nerve neoplasm tumor of the Cranial nerve EXACT [NCI2004_11_17:C2963] DOID:3381 liposarcoma of bone Liposarcoma of the bone EXACT [NCI2004_11_17:C7598] DOID:3382 liposarcoma A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum. [url:http\://en.wikipedia.org/wiki/Liposarcoma] DOID:3384 metastatic osteosarcoma metastatic Osteogenic sarcoma EXACT [NCI2004_11_17:C7781] DOID:3385 bacterial vaginosis A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. [url:http\://www.rho.org/html/glossary.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis] DOID:3388 periodontal disease periodontium disorder EXACT [CSP2005:0828-4279] DOID:3389 Papillon-Lefevre disease Papillon-Lefvre syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:40158001] DOID:339 accessory nerve disease Eleventh nerve disorder EXACT [NCI2004_11_17:C26953] DOID:3390 palmoplantar keratosis A keratosis characterized by abnormal thickening of the palms and the soles. [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma] Palmoplantar Keratoderma EXACT [NCI2004_11_17:C34748] DOID:3393 coronary artery disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. [url:http\://en.wikipedia.org/wiki/Coronary_heart_disease] myocardial ischemia EXACT [] DOID:3401 inappropriate ADH syndrome syndrome of inappropriate vasopressin secretion (disorder) EXACT [SNOMEDCT_2005_07_31:55004003] DOID:3402 ectopic hormone secretion syndrome associated with neoplasia neoplasm associated Ectopic Hormone Secretion syndromes EXACT [NCI2004_11_17:C4065] DOID:3403 hypergammaglobulinemia hypergammaglobulinemia, NOS EXACT [SNOMEDCT_2005_07_31:58034007] DOID:3404 benign monoclonal gammopathy BMH EXACT [MTHICD9_2006:273.1] DOID:3405 histiocytosis A lymphatic system disease that is characterized by an excessive number of histiocytes. [url:http\://en.wikipedia.org/wiki/Histiocytosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000068.htm] Hand Schuller Christian disease EXACT [CSP2005:0427-5330] DOID:3407 carotid artery disease disorder of carotid artery (disorder) EXACT [SNOMEDCT_2005_07_31:371160000] DOID:341 peripheral vascular disease A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. [url:http\://en.wikipedia.org/wiki/Peripheral_vascular_disease] arterial occlusive disease EXACT [] DOID:3410 carotid artery thrombosis Carotid artery thrombosis (disorder) EXACT [SNOMEDCT_2005_07_31:86003009] DOID:3412 infectious canine hepatitis A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. [url:http\://en.wikipedia.org/wiki/Infectious_canine_hepatitis, url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm] DOID:3413 alpha-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. [url:http\://en.wikipedia.org/wiki/Alpha-mannosidosis] deficiency of alpha-mannosidase (disorder) EXACT [SNOMEDCT_2005_07_31:124466001] DOID:3414 mannosidase deficiency disease Mannosidosis (disorder) EXACT [SNOMEDCT_2005_07_31:65524005] DOID:3417 glossopharyngeal nerve neoplasm tumor of Glossopharyngeal nerve EXACT [NCI2004_11_17:C5828] DOID:3418 glossopharyngeal nerve disease DOID:3419 optic nerve neoplasm Tumour of optic nerve EXACT [SNOMEDCT_2005_07_31:254971001] DOID:342 subclavian artery aneurysm DOID:3420 neoplasm of visual pathway tumor of the visual pathway EXACT [NCI2004_11_17:C6262] DOID:3421 trochlear nerve neoplasm tumor of Trochlear nerve EXACT [NCI2004_11_17:C5825] DOID:3426 vestibular disease Vestibular disorder, NOS EXACT [SNOMEDCT_2005_07_31:20425006] DOID:3428 granulomatous myositis DOID:3429 inclusion body myositis A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. [url:http\://en.wikipedia.org/wiki/Inclusion_body_myositis, url:http\://www.jewishgeneticdiseases.org/diseases/hereditary-inclusion-body-myopathy-2/, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/inclusion-body-myositis, url:http\://www.ncbi.nlm.nih.gov/gtr/conditions/C1853926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=602] Nonaka myopathy EXACT [] DOID:3431 cerebritis DOID:3436 viral laryngitis A acute laryngitis which is caused by viral infection. [url:http\://www.merck.com/mmpe/sec08/ch092/ch092d.html] DOID:3437 laryngitis A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. [url:http\://en.wikipedia.org/wiki/Laryngitis] DOID:344 disease of biological process A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. [DO:wk\,ls] DOID:3443 mammary Paget's disease Paget's disease of the breast EXACT [] DOID:3444 scrotum Paget's disease scrotum Paget disease EXACT [] DOID:3445 scrotal carcinoma carcinoma of scrotum EXACT [NCI2004_11_17:C6389] DOID:3446 anal Paget's disease Paget's disease of the anus RELATED [] DOID:3447 anus adenocarcinoma An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the anus RELATED [] DOID:3448 penis Paget's disease penis Paget disease EXACT [] DOID:3449 penis carcinoma A penile cancer that is located_in the skin or tissues of the penis. [url:http\://en.wikipedia.org/wiki/Carcinoma_of_the_penis] Penile carcinoma EXACT [NCI2004_11_17:C9061] DOID:345 uterine disease A female reproductive system disease that is located_in the uterus. [url:http\://www.merriam-webster.com/dictionary/uterus] DOID:3450 cutaneous Paget's disease Paget's disease of skin (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:232336001] DOID:3451 skin carcinoma A skin cancer that is located_in tissues of the skin and develops from epithelial cells. [url:http\://www.cancer.gov/cancertopics/types/skin] Non-melanoma skin cancer EXACT [NCI2004_11_17:C4914] DOID:3454 brain infarction DOID:3456 cervix erosion Erosion of cervix EXACT [SNOMEDCT_2005_07_31:156011009] DOID:3457 invasive lobular carcinoma Lobular carcinoma of the breast EXACT [NCI2004_11_17:C3771] DOID:3458 breast adenocarcinoma A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=696] Mammary adenocarcinoma EXACT [NCI2004_11_17:C5214] DOID:3459 breast carcinoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Breast_cancer] Mammary carcinoma EXACT [NCI2004_11_17:C4872] DOID:3461 breast hamartoma DOID:3462 hamartoma hamartomatous polyp (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:27391005] DOID:3463 breast disease A thoracic disease that is located_in the breast. [url:http\://www.nlm.nih.gov/medlineplus/breastdiseases.html] DOID:3464 hamartoma of skin appendage skin Appendage hamartoma EXACT [NCI2004_11_17:C5562] DOID:3465 congenital nevus of skin Congenital nevus of the skin EXACT [NCI2004_11_17:C5570] DOID:3466 cartilaginous hamartoma cartilaginous hamartoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:23604003] DOID:3467 mesenchymal hamartoma mesenchymal hamartoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:80656004] DOID:3470 hamartoma of central nervous system hamartoma of the CNS EXACT [NCI2004_11_17:C5509] DOID:3472 hamartoma of lung pulmonary hamartoma EXACT [NCI2004_11_17:C3497] DOID:3473 brain hamartoma hamartoma of brain (disorder) EXACT [SNOMEDCT_2005_07_31:277369003] DOID:3476 Lipomatous hamartoma Lipomatous hamartoma (disorder) EXACT [SNOMEDCT_2005_07_31:400111008] DOID:3478 iris cancer tumor of the Iris EXACT [NCI2004_11_17:C3142] DOID:3479 uveal cancer Uveal tumor EXACT [NCI2004_11_17:C3436] DOID:348 blepharochalasis DOID:3480 uveal disease DOID:3481 septicemic plague A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. [url:http\://emedicine.medscape.com/article/829233-overview#a0104, url:http\://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm] Septicemic plague (disorder) EXACT [SNOMEDCT_2005_07_31:9012003] DOID:3482 plague A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. [url:http\://emedicine.medscape.com/article/829233-overview#a0104] DOID:3485 Oxyurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. [url:http\://en.wikipedia.org/wiki/Oxyurida] DOID:3486 necrobiosis lipoidica Necrobiosis lipoidica (disorder) EXACT [SNOMEDCT_2005_07_31:9418005] DOID:3487 metabolic skin disease DOID:3488 cellulitis A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. [url:http\://en.wikipedia.org/wiki/Cellulitis] DOID:349 systemic mastocytosis systemic tissue mast cell disease EXACT [MTHICD9_2006:202.6] DOID:3490 Noonan syndrome Turner's phenotype, karyotype normal (disorder) EXACT [SNOMEDCT_2005_07_31:205684007] DOID:3491 Turner syndrome XO syndrome EXACT [MTHICD9_2006:758.6] DOID:3492 mixed connective tissue disease A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. [url:http\://www.merckmanuals.com/professional/sec04/ch032/ch032c.html] mixed collagen vascular disease (disorder) EXACT [SNOMEDCT_2005_07_31:398049005] DOID:3493 signet ring cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. [url:http\://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma] Signet ring cell carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:87737001] DOID:3494 bile duct signet ring cell carcinoma bile duct Signet Ring cell carcinoma EXACT [NCI2004_11_17:C5776] DOID:3495 extrahepatic bile duct adenocarcinoma An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the extrahepatic bile duct RELATED [] DOID:3497 pancreatic signet ring cell adenocarcinoma Signet Ring cell carcinoma of pancreas EXACT [NCI2004_11_17:C5720] DOID:3498 pancreatic ductal adenocarcinoma A pancreas adenocarcinoma that derives_from pancreatic duct cells. [url:http\://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma, url:http\://en.wikipedia.org/wiki/Pancreatic_cancer] ductal adenocarcinoma of the pancreas EXACT [NCI2004_11_17:C9120] DOID:3499 gallbladder signet ring cell adenocarcinoma Signet Ring cell carcinoma of the gallbladder EXACT [NCI2004_11_17:C5745] DOID:350 mastocytosis mast cell hyperplasia EXACT [CSP2005:4006-0061] DOID:3500 gallbladder adenocarcinoma A gallbladder carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the gallbladder EXACT [NCI2004_11_17:C9166] DOID:3501 ampullary signet ring cell adenocarcinoma ampullary signet ring cell carcinoma EXACT [] DOID:3502 ampulla of Vater adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] ampullary adenocarcinoma EXACT [NCI2004_11_17:C6650] DOID:3503 breast signet ring cell adenocarcinoma signet ring cell carcinoma of breast RELATED [] DOID:3504 prostate signet ring cell adenocarcinoma Signet Ring cell carcinoma of prostate EXACT [NCI2004_11_17:C5535] DOID:3507 dermatofibrosarcoma protuberans A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. [url:http\://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans, url:http\://www.cancer.gov/dictionary?CdrID=44276] DOID:3508 stricture or kinking of ureter DOID:3512 neurofibrosarcoma Neurosarcoma [obs] EXACT [SNOMEDCT_2005_07_31:19897006] DOID:3516 adult fibrosarcoma DOID:3517 conventional fibrosarcoma DOID:3519 non-metastatic fibrosarcoma DOID:3520 pediatric fibrosarcoma DOID:3521 childhood soft tissue sarcoma A sarcoma that affects children and is located_in the soft tissues of the body. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient] pediatric sarcoma of the soft tissue EXACT [NCI2004_11_17:C7715] DOID:3522 lateral medullary syndrome Wallenberg syndrome EXACT [SNOMEDCT_2005_07_31:195193009] DOID:3523 brain stem infarction Brainstem infarction NOS (disorder) EXACT [SNOMEDCT_2005_07_31:230697005] DOID:3525 middle cerebral artery infarction DOID:3526 cerebral infarction CVA - Cerebral infarction EXACT [SNOMEDCT_2005_07_31:20059004] DOID:3527 cerebral arterial disease DOID:3528 anterior cerebral artery infarction DOID:3529 central core myopathy central core disease (disorder) EXACT [SNOMEDCT_2005_07_31:43152001] DOID:3530 chronic wasting disease DOID:3532 peste des petits ruminants infectious disease A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf] Stomatitis-Pneumoenteritis Syndrome EXACT [] DOID:3533 Morbillivirus infectious disease A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. [url:http\://en.wikipedia.org/wiki/Morbillivirus] DOID:3534 Lafora disease MYOCLONIC EPILEPSY OF LAFORA EXACT [] DOID:3535 Unverricht-Lundborg syndrome Unverricht-Lundborg disease EXACT [SNOMEDCT_2005_07_31:89480000] DOID:3540 choroid plexus cancer A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. [url:http\://en.wikipedia.org/wiki/Choroid_plexus] tumor of the Choroid Plexus EXACT [NCI2004_11_17:C3473] DOID:3541 cerebral ventricle cancer A cerebrum cancer that is located_in the cerebral ventricles. [url:http\://en.wikipedia.org/wiki/Ventricular_system] Intraventricular tumor of brain EXACT [NCI2004_11_17:C2937] DOID:3542 adult choroid plexus cancer neoplasm of the adult Choroid Plexus EXACT [NCI2004_11_17:C8568] DOID:3544 atypical choroid plexus papilloma Atypical choroid plexus papilloma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128904001] DOID:3545 childhood choroid plexus cancer childhood choroid plexus neoplasm RELATED [] DOID:3546 somatosensory disorder DOID:355 mast-cell sarcoma DOID:3557 superior mesenteric artery syndrome Superior mesenteric artery syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:197006009] DOID:3558 duodenal obstruction DOID:3559 pseudomyxoma peritonei An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. [url:http\://en.wikipedia.org/wiki/Pseudomyxoma_peritonei, url:http\://www.cancer.gov/dictionary?CdrID=44256, url:http\://www.ncbi.nlm.nih.gov/pubmed/14567019, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract] Pseudomyxoma peritonei (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:112679004] DOID:356 intrathoracic lymph node mast cell malignancy Mast cell malignancy of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188663002] DOID:3565 meningioma A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid \cap\" cells of the arachnoid villi in the meninges." [url:http\://en.wikipedia.org/wiki/Meningioma] supratentorial meningioma EXACT [] DOID:3568 viral hemorrhagic septicemia A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. [url:http\://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia] Egtved Disease EXACT [] DOID:357 upper limb lymph node mast cell malignancy Mast cell malignancy of lymph nodes of axilla and upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:188665009] DOID:3571 liver cancer A gastrointestinal system cancer that is located_in the liver. [url:http\://en.wikipedia.org/wiki/Liver] resectable malignant neoplasm of the liver EXACT [] DOID:3572 intracranial sinus thrombosis DOID:3574 lateral sinus thrombosis Thrombosis transverse sinus (disorder) EXACT [SNOMEDCT_2005_07_31:192761004] DOID:3575 cavernous sinus thrombosis Thrombosis of cavernous venous sinus (disorder) EXACT [SNOMEDCT_2005_07_31:89980009] DOID:3576 sagittal sinus thrombosis Thrombosis of superior sagittal sinus (disorder) EXACT [SNOMEDCT_2005_07_31:70607008] DOID:3577 Sertoli cell tumor tubular androblastoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189738002] DOID:3578 ovarian gonadoblastoma DOID:3579 testicular gonadoblastoma DOID:3580 testicular mixed germ cell-sex cord-stromal neoplasm testicular mixed germ cell-Sex Cord tumor EXACT [NCI2004_11_17:C7322] DOID:3583 enterotoxemia DOID:3584 commensal Clostridium infectious disease clostridial infection EXACT [CSP2005:0368-2583] DOID:3586 Puerperal pyrexia of unknown origin DOID:3587 pancreatic ductal carcinoma A pancreatic carcinoma located_in the pancreatic duct. [url:http\://en.wikipedia.org/wiki/Pancreatic_cancer, url:http\://en.wikipedia.org/wiki/Pancreatic_duct] pancreatic duct cancer EXACT [] DOID:3589 Poor Prognosis metastatic Gestational Trophoblastic tumor DOID:3590 gestational trophoblastic neoplasm molar pregnancy EXACT [CSP2005:2403-0989, NCI2004_11_17:C3110] DOID:3591 Nonmetastatic Gestational Trophoblastic tumor DOID:3593 epithelioid trophoblastic tumor DOID:3594 choriocarcinoma Chorioepithelioma NOS EXACT [MTHICD9_2006:181] DOID:3596 placental site trophoblastic tumor Placental-Site Gestational Trophoblastic neoplasm EXACT [NCI2004_11_17:C3757] DOID:3597 Good Prognosis metastatic Gestational Trophoblastic tumor DOID:3602 toxic encephalopathy neurotoxicity syndrome EXACT [] DOID:3603 mucinous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. [url:http\://www.wisegeek.com/what-is-a-mucinous-cystadenocarcinoma.htm] Pseudomucinous cystadenocarcinoma EXACT [NCI2004_11_17:C3776] DOID:3604 ovarian mucinous cystadenocarcinoma Ovarian mucinous cystadenocarcinoma EXACT [NCI2004_11_17:C4026] DOID:3605 ovarian cystadenocarcinoma cystadenocarcinoma of the Ovary EXACT [NCI2004_11_17:C5228] DOID:3606 ovarian mucinous adenocarcinoma mucinous carcinoma of Ovary EXACT [NCI2004_11_17:C5243] DOID:3607 appendix mucinous cystadenocarcinoma Colloidal cystadenocarcinoma of the appendix EXACT [NCI2004_11_17:C5511] DOID:3608 appendix adenocarcinoma An appendix carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Appendiceal adenocarcinoma EXACT [NCI2004_11_17:C7718] DOID:3609 breast mucinous cystadenocarcinoma DOID:361 cervix endometriosis Endometriosis of cervix EXACT [SNOMEDCT_2005_07_31:61640006] DOID:3610 breast mucinous carcinoma mucinous carcinoma of breast RELATED [] DOID:3611 acute retinal necrosis syndrome acute retinal necrosis EXACT [SNOMEDCT_2005_07_31:231986000] DOID:3612 retinitis DOID:3613 Canavan disease Spongy degeneration of central nervous system (disorder) EXACT [SNOMEDCT_2005_07_31:80544005] DOID:3614 Kallmann syndrome Kallman's syndrome EXACT [SNOMEDCT_2005_07_31:190559001] DOID:3615 infiltrating angiolipoma Infiltrating angiolipoma EXACT [SNOMEDCT_2005_07_31:24045002] DOID:3616 angiolipoma A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. [url:http\://en.wikipedia.org/wiki/Angiolipoma] DOID:3617 epidural spinal canal angiolipoma Angiolipoma of Extradural Spinal canal EXACT [NCI2004_11_17:C5424] DOID:3618 epidural neoplasm Extradural tumor EXACT [NCI2004_11_17:C3019] DOID:3620 central nervous system cancer A nervous system cancer that is located_in the central nervous system. [url:http\://en.wikipedia.org/wiki/Central_nervous_system] neoplasm of central nervous system (disorder) EXACT [SNOMEDCT_2005_07_31:126951006] DOID:3621 central nervous system neuroepithelial neoplasm DOID:3627 aortic aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm] Thoracoabdominal aortic aneurysm, ruptured (disorder) EXACT [SNOMEDCT_2005_07_31:195265003] DOID:363 uterine cancer A female reproductive organ cancer that is located_in the uterus. [url:http\://www.cancer.gov/dictionary?CdrID=445094] uterus neoplasm EXACT [CSP2005:2016-1566] DOID:3633 beta-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. [url:http\://en.wikipedia.org/wiki/Beta-mannosidosis] lysosomal beta-mannosidase deficiency EXACT [] DOID:3635 congenital myasthenic syndrome A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). [url:http\://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590] familial limb-girdle myasthenia EXACT [] DOID:3636 commensal Desulfovibrionaceae infectious disease DOID:3637 childhood spinal cord tumor childhood Spinal Cord neoplasm EXACT [NCI2004_11_17:C9234] DOID:3639 spinal cord intramedullary teratoma Intramedullary Spinal teratoma EXACT [NCI2004_11_17:C5428] DOID:364 spontaneous rupture of bladder spontaneous rupture of bladder (disorder) EXACT [SNOMEDCT_2005_07_31:197881002] DOID:3640 central nervous system teratoma CNS teratoma EXACT [NCI2004_11_17:C5441] DOID:3641 conus medullaris neoplasm tumor of Conus Medullaris EXACT [NCI2004_11_17:C5443] DOID:3642 empty sella syndrome Empty sella syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:237722004] DOID:3643 sella turcica neoplasm tumor of Sella Turcica EXACT [NCI2004_11_17:C4944] DOID:3644 hypothalamic neoplasm tumor of hypothalamus (disorder) EXACT [SNOMEDCT_2005_07_31:254968009] DOID:3646 necrosis of pituitary Pituitary necrosis EXACT [NCI2004_11_17:C27066] DOID:3648 inborn errors pyruvate metabolism Inborn error of pyruvate metabolism (disorder) EXACT [SNOMEDCT_2005_07_31:53210006] DOID:3649 pyruvate decarboxylase deficiency A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. [url:http\://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, url:http\://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract] pyruvate dehydrogenase deficiency EXACT [SNOMEDCT_2005_07_31:190761008] DOID:365 bladder disease A urinary system disease that is located_in the bladder. [url:http\://www.nlm.nih.gov/medlineplus/bladderdiseases.html] Urinary Bladder Disease EXACT [] DOID:3650 lactic acidosis An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. [url:http\://en.wikipedia.org/wiki/Lactic_acidosis] DOID:3651 pyruvate carboxylase deficiency disease deficiency of pyruvic carboxylase EXACT [SNOMEDCT_2005_07_31:87694001] DOID:3652 Leigh disease A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. [url:http\://en.wikipedia.org/wiki/Leigh%27s_disease, url:http\://ghr.nlm.nih.gov/condition/leigh-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract] subacute necrotizing encephalomyelopathy RELATED [CSP2005:1254-7727] DOID:3653 laboratory infectious disease laboratory infection EXACT [CSP2005:2119-8616] DOID:3659 sialuria A lysosomal storage disease characterized by increased sialic acid in the urine. [url:http\://en.wikipedia.org/wiki/Sialuria, url:http\://www.ncbi.nlm.nih.gov/books/NBK1164/, url:http\://www.omim.org/entry/269921] DOID:366 olfactory nerve neoplasm tumor of Olfactory nerve EXACT [NCI2004_11_17:C5121] DOID:3660 wheat allergy wheat allergic reaction EXACT [] DOID:3663 cutaneous mastocytosis Cutaneous mastocytosis (disorder) EXACT [SNOMEDCT_2005_07_31:397012002] DOID:3664 mast cell neoplasm A hematologic cancer that has_material_basis_in mast cells. [url:http\://en.wikipedia.org/wiki/Mastocytoma, url:http\://www.cancer.gov/dictionary?CdrID=410729] mastocytoma EXACT [NCI2004_11_17:C9303] DOID:3665 diffuse cutaneous mastocytosis Diffuse Cutaneous Mastocytosis EXACT [NCI2004_11_17:C3218] DOID:3666 cutaneous solitary mastocytoma Solitary Mastocytoma of skin EXACT [NCI2004_11_17:C7138] DOID:3667 Cardiovirus infectious disease A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. [url:http\://vir.sgmjournals.org/cgi/content/full/91/6/1418] DOID:3668 Picornaviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. [url:http\://en.wikipedia.org/wiki/Picornaviridae] DOID:3669 intermittent claudication Intermittent claudication NOS EXACT [MTHICD9_2006:443.9] DOID:367 olfactory nerve disease disorder of olfactory nerve (disorder) EXACT [SNOMEDCT_2005_07_31:68982002] DOID:3671 pericoronitis Pericoronitis (disorder) EXACT [SNOMEDCT_2005_07_31:22240003] DOID:3672 rhabdoid cancer A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. [url:http\://www.cancer.iu.edu/renaltumors/rhabdoid/facts/] rhabdoid tumor RELATED [] DOID:3674 kidney rhabdoid cancer A embryonal cancer that is located in the kidney. [url:http\://www.childrenshospital.org/az/Site1526/mainpageS1526P0.html] renal Rhabdoid tumor EXACT [NCI2004_11_17:C8715] DOID:3675 childhood kidney neoplasm pediatric renal tumor EXACT [NCI2004_11_17:C6563] DOID:3677 pulmonary plasma cell granuloma Sclerosing hemangiocytoma of lung EXACT [SNOMEDCT_2005_07_31:254641006] DOID:368 cerebrum cancer A supratentorial cancer that is located_in the cerebrum. [url:http\://en.wikipedia.org/wiki/Cerebrum] tumor of Cerebrum EXACT [NCI2004_11_17:C4874] DOID:3680 malignant neoplasm of lip, oral cavity and pharynx malignant tumour of mouth EXACT [SNOMEDCT_2005_07_31:93897007] DOID:3683 lung benign neoplasm tumor of the lung EXACT [NCI2004_11_17:C3200] DOID:3686 Helicobacter pylori infectious disease Helicobacter Pylori Infection EXACT [NCI2004_11_17:C39293] DOID:3687 MELAS syndrome MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES EXACT [] DOID:3688 plexopathy DOID:3689 brachial plexus neuritis Parsonage-Aldren-Turner syndrome EXACT [SNOMEDCT_2005_07_31:26609002] DOID:369 olfactory neuroblastoma paranasal sinus Olfactory neuroblastoma EXACT [NCI2004_11_17:C6016] DOID:3690 brachial plexus neuropathy Brachial plexus disorder EXACT [SNOMEDCT_2005_07_31:3548001] DOID:3691 anal colloid adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] mucinous adenocarcinoma of anus EXACT [NCI2004_11_17:C5606] DOID:3692 anal canal adenocarcinoma An anal canal cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the anal canal EXACT [NCI2004_11_17:C7471] DOID:3693 ampulla of Vater mucinous adenocarcinoma DOID:3694 adnexal mucinous adenocarcinoma DOID:3695 adnexa adenocarcinoma adenocarcinoma of the skin Appendage EXACT [NCI2004_11_17:C5571] DOID:3696 acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] DOID:3697 acute transudative otitis media A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] acute transudative otitis media EXACT [SNOMEDCT_2005_07_31:35183001] DOID:3698 bile duct mucinous adenocarcinoma mucinous carcinoma of the bile duct EXACT [NCI2004_11_17:C5846] DOID:3699 uterine ligament mucinous adenocarcinoma DOID:37 skin disease An integumentary system disease that is located_in skin. [url:http\://en.wikipedia.org/wiki/Skin_disease] skin and subcutaneous tissue disease EXACT [] DOID:370 malignant olfactory nerve tumor primary malignant neoplasm of olfactory nerve EXACT [SNOMEDCT_2005_07_31:93930008] DOID:3700 uterine ligament adenocarcinoma DOID:3701 cervical mucinous adenocarcinoma DOID:3702 cervical adenocarcinoma A cervix carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the uterine Cervix EXACT [NCI2004_11_17:C4029] DOID:3703 prostate colloid adenocarcinoma acinar Colloid prostate adenocarcinoma EXACT [NCI2004_11_17:C5537] DOID:3704 fallopian tube mucinous adenocarcinoma DOID:3705 fallopian tube mucinous tumor DOID:3706 fallopian tube adenocarcinoma A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the fallopian tube EXACT [NCI2004_11_17:C6265] DOID:3707 endometrial mucinous adenocarcinoma uterine Corpus mucinous adenocarcinoma EXACT [NCI2004_11_17:C40144] DOID:3709 rectum mucinous adenocarcinoma Colloidal adenocarcinoma of rectum EXACT [NCI2004_11_17:C7973] DOID:371 extracranial neuroblastoma DOID:3710 bladder colloid adenocarcinoma DOID:3711 bladder adenocarcinoma A bladder carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] bladder adenocarcinoma, Not Otherwise Specified EXACT [NCI2004_11_17:C39836] DOID:3713 ovary adenocarcinoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Ovarian adenocarcinoma EXACT [NCI2004_11_17:C7700] DOID:3715 non-suppurative otitis media and eustachian tube disorder A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] DOID:3716 mucinous stomach adenocarcinoma mucinous adenocarcinoma of the stomach EXACT [NCI2004_11_17:C5248] DOID:3717 gastric adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] stomach adenocarcinoma EXACT [NCI2004_11_17:C4004] DOID:3718 Arterivirus infectious disease A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. [url:http\://en.wikipedia.org/wiki/Arterivirus] DOID:3720 extramedullary plasmacytoma plasmacytoma, extramedullary (not occurring in bone) EXACT [SNOMEDCT_2005_07_31:128921005] DOID:3721 plasmacytoma Solitary plasmacytoma EXACT [NCI2004_11_17:C6932] DOID:3722 solitary osseous plasmacytoma Solitary plasmacytoma of bone EXACT [SNOMEDCT_2005_07_31:42215000] DOID:3723 solitary plasmacytoma of chest wall Solitary plasmacytoma of the Chest Wall EXACT [NCI2004_11_17:C6711] DOID:3726 puerperal disease puerperal disorder EXACT [CSP2005:2404-6473] DOID:3728 acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306] DOID:3729 Respirovirus infectious disease A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. [url:http\://expasy.org/viralzone/all_by_species/87.html] disease due to Paramyxovirus (disorder) EXACT [SNOMEDCT_2005_07_31:84118005] DOID:373 infant nutrition disorder infant nutrition disorder EXACT [CSP2005:2116-7820] DOID:3730 pneumonic pasteurellosis A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm] Pneumonic pasteurellosis EXACT [SNOMEDCT_2005_07_31:61532009] DOID:3731 primary Pasteurellaceae infectious disease DOID:3732 bovine respiratory disease complex A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm, url:http\://www.jstor.org/stable/pdfplus/1349519.pdf] DOID:3733 theileriasis A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. [url:http\://en.wikipedia.org/wiki/East_Coast_fever] theileriosis EXACT [] DOID:3737 verrucous carcinoma A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. [url:http\://en.wikipedia.org/wiki/Verrucous_carcinoma] Warty carcinoma EXACT [SNOMEDCT_2005_07_31:399408005] DOID:3739 human papillomavirus related squamous cell carcinoma A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] HPV-Related squamous cell carcinoma EXACT [NCI2004_11_17:C27683] DOID:374 nutrition disease An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. [url:http\://www.who.int/topics/nutrition_disorders/en/] Nutritional disorder EXACT [NCI2004_11_17:C26836] DOID:3740 vulva verrucous carcinoma verrucous carcinoma of Vulva EXACT [NCI2004_11_17:C6383] DOID:3741 bladder verrucous squamous cell carcinoma DOID:3742 bladder squamous cell carcinoma A carcinoma of bladder that is manifested in squamous cells of the bladder. [url:http\://www.cancer.gov/cancertopics/types/bladder] squamous cell carcinoma of bladder (disorder) EXACT [SNOMEDCT_2005_07_31:255111004] DOID:3743 cervical verrucous carcinoma DOID:3744 cervical squamous cell carcinoma A cervix carcinoma that has_material_basis_in squamous cells of the cervix. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=752829] squamous cell carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C4028] DOID:3747 esophagus verrucous carcinoma verrucous carcinoma of the esophagus RELATED [] DOID:3748 esophagus squamous cell carcinoma An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. [url:http\://www.cancer.gov/cancertopics/types/esophageal] squamous cell carcinoma of esophagus (disorder) EXACT [SNOMEDCT_2005_07_31:276804009] DOID:3749 urethral verrucous carcinoma DOID:3750 urethra squamous cell carcinoma A cancer of urethra that shows squamous cell differentiation. [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] urethral Epidermoid carcinoma EXACT [NCI2004_11_17:C6165] DOID:3751 plantar verrucous skin carcinoma DOID:3752 larynx verrucous carcinoma verrucous carcinoma of the Larynx EXACT [NCI2004_11_17:C8188] DOID:3753 Hermansky-Pudlak syndrome An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. [url:http\://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, url:http\://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract] HPS (Hermansky Pudlak syndrome) EXACT [CSP2005:0446-1413] DOID:3755 antithrombin III deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins. [url:http\://en.wikipedia.org/wiki/Antithrombin_III_deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract] hereditary thrombophilia due to congenital antithrombin deficiency EXACT [] DOID:3756 protein C deficiency DOID:3758 Fusobacterium infectious disease DOID:3762 cytochrome-c oxidase deficiency disease MITOCHONDRIAL COMPLEX IV DEFICIENCY EXACT [] DOID:3763 hermaphroditism DOID:3764 Denys-Drash syndrome An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN] DOID:3765 pseudohermaphroditism Indeterminate sex and pseudohermaphroditism EXACT [] DOID:3766 leukorrhea Leukorrhea of vagina EXACT [MTHICD9_2006:623.5] DOID:3767 vaginal discharge DOID:3770 pulmonary fibrosis Fibrosis of lung EXACT [SNOMEDCT_2005_07_31:51615001] DOID:3772 intraventricular meningioma DOID:3773 third ventricle chordoid glioma Chordoid glioma of third ventricle EXACT [SNOMEDCT_2005_07_31:128789002] DOID:3774 chordoid glioma Chordoid glioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128789002] DOID:3777 granuloma annulare Granulome annulare EXACT [SNOMEDCT_2005_07_31:156368000] DOID:3781 anovulation DOID:3783 Coffin-Lowry syndrome Coffin-Lowry syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:15182000] DOID:379 external ear disease Preauricular sinus or fistula NOS (disorder) EXACT [SNOMEDCT_2005_07_31:204273002] DOID:3798 pleural empyema A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. [url:http\://en.wikipedia.org/wiki/Pleural_empyema, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh] Thorax abscess EXACT [SNOMEDCT_2005_07_31:196068004] DOID:3799 feline panleukopenia A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. [url:http\://en.wikipedia.org/wiki/Feline_panleukopenia] Feline panleukemia EXACT [SNOMEDCT_2005_07_31:29386004] DOID:3800 avian leukosis A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm] Tumor Virus Infections RELATED [] DOID:3803 Crigler-Najjar syndrome A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). [url:http\://emedicine.medscape.com/article/172858-overview#a0104, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002114/] Crigler-Najjar syndrome, type I (disorder) EXACT [SNOMEDCT_2005_07_31:8933000] DOID:3805 porokeratosis Porokeratosis, NOS EXACT [SNOMEDCT_2005_07_31:80432009] DOID:3809 epidural spinal canal meningioma DOID:381 arthropathy A bone inflammation disease that is located_in joint. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Arthropathy] Joint ankylosis of the upper arm (disorder) EXACT [SNOMEDCT_2005_07_31:267932007] DOID:3810 chondrogenic neoplasm Chondromatous tumor EXACT [NCI2004_11_17:C4755] DOID:3812 mediastinum chondroma Chondroma of mediastinum EXACT [NCI2004_11_17:C6596] DOID:3813 central nervous system chondroma Chondroma of the CNS EXACT [NCI2004_11_17:C7001] DOID:3814 extraskeletal chondroma DOID:3816 glossopharyngeal nerve paralysis DOID:3817 cranial nerve palsy Cranial nerve Paralysis EXACT [NCI2004_11_17:C26941] DOID:3818 photoallergic dermatitis Photoallergic eczema EXACT [SNOMEDCT_2005_07_31:238523008] DOID:3819 toxicodendron dermatitis Rhus dermatitis EXACT [CSP2005:2716-6989] DOID:3820 primary Chlamydiaceae infectious disease chlamydiaceae infection EXACT [CSP2005:0638-2797] DOID:3821 posterior cerebral artery infarction DOID:3825 Shwartzman phenomenon Shwartzman reaction (function) EXACT [SNOMEDCT_2005_07_31:24453002] DOID:3827 congenital diaphragmatic hernia A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. [url:http\://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia, url:http\://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia] Diaphragmatic Hernia EXACT [NCI2004_11_17:C34687] DOID:3828 chromophobe adenoma Chromophobe adenoma of the Pituitary gland EXACT [NCI2004_11_17:C2857] DOID:3829 pituitary adenoma adenoma of the Pituitary gland EXACT [NCI2004_11_17:C3329] DOID:3836 posttransplantation lymphoproliferative disease DOID:3837 benign lymphoproliferative disease DOID:3838 skin lymphoproliferative disease Lymphoproliferative disorder of skin EXACT [NCI2004_11_17:C7614] DOID:384 Wolff-Parkinson-White syndrome Wolff-Parkinson-White pattern (finding) EXACT [SNOMEDCT_2005_07_31:251115003] DOID:3840 craniopharyngioma neoplasm of Rathke's Pouch EXACT [NCI2004_11_17:C2964] DOID:3842 skull base neoplasm tumors of Skull Base EXACT [NCI2004_11_17:C4676] DOID:3843 diencephalic neoplasm tumor of Diencephalon EXACT [NCI2004_11_17:C5125] DOID:3844 pediatric craniopharyngioma pediatric Rathke's Pouch tumor EXACT [NCI2004_11_17:C7816] DOID:3845 childhood intracranial neoplasm DOID:3846 adamantinous craniopharyngioma craniopharyngioma, adamantinomatous EXACT [SNOMEDCT_2005_07_31:128781004] DOID:3847 papillary craniopharyngioma Papillary Rathke's Pouch tumor EXACT [NCI2004_11_17:C4725] DOID:3848 adult craniopharyngioma adult Rathke's Pouch tumor EXACT [NCI2004_11_17:C4010] DOID:3849 adult intracranial neoplasm adult intracranial tumor EXACT [NCI2004_11_17:C5478] DOID:3850 hemangiopericytic tumor Hemangiopericytic neoplasm NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189867006] DOID:3852 Peutz-Jeghers syndrome peutz-jeghers small bowel hamartoma EXACT [] DOID:3855 seminal vesicle tumor tumor of seminal vesicle (disorder) EXACT [SNOMEDCT_2005_07_31:236740006] DOID:3856 male reproductive organ cancer A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. [url:http\://en.wikipedia.org/wiki/Template\:Male_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm] tumor of male Reproductive system EXACT [NCI2004_11_17:C3054] DOID:3857 large cell medulloblastoma A medulloblastoma that is characterized by cells that are larger than would be normally expected. [url:http\://en.wikipedia.org/wiki/Large_cell] large cell medulloblastoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128790006] DOID:3859 relapsed medulloblastoma DOID:386 postpericardiotomy syndrome Postcardiotomy syndrome RELATED [SNOMEDCT_2005_07_31:157793008] DOID:3860 cerebellar vermis medulloblastoma Vermis Medulloblastoma EXACT [NCI2004_11_17:C5401] DOID:3861 medullomyoblastoma Medullomyoblastoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:24604009] DOID:3862 FAP associated medulloblastoma DOID:3863 region 17p13 allelic loss associated medulloblastoma DOID:3864 adult medulloblastoma adult brain medulloblastoma EXACT [] DOID:3865 adult central nervous system primitive neuroectodermal neoplasm adult CNS PNET EXACT [NCI2004_11_17:C5411] DOID:3866 desmoplastic medulloblastoma desmoplastic nodular medulloblastoma EXACT [SNOMEDCT_2005_07_31:32456001] DOID:3867 nevoid basal cell carcinoma syndrome associated medulloblastoma DOID:3868 melanotic medulloblastoma Melanotic Medulloblastoma EXACT [NCI2004_11_17:C9497] DOID:3869 childhood medulloblastoma pediatric Medulloblastoma EXACT [NCI2004_11_17:C3997] DOID:3870 childhood central nervous system primitive neuroectodermal neoplasm pediatric CNS PNET EXACT [NCI2004_11_17:C5961] DOID:3871 medulloblastoma with leptomeningeal spread DOID:3872 leptomeningeal metastases metastatic tumor to the Leptomeninges EXACT [NCI2004_11_17:C3814] DOID:3873 nodular medulloblastoma DOID:3875 thrombophlebitis A phlebitis that results from a blood clot in the vessel. [url:http\://en.wikipedia.org/wiki/Thrombophlebitis, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001108.htm] Thrombophlebitis of superficial veins of lower extremity (disorder) EXACT [SNOMEDCT_2005_07_31:40283005] DOID:3876 colonic pseudo-obstruction primary chronic pseudo-obstruction of colon (disorder) EXACT [SNOMEDCT_2005_07_31:35065006] DOID:3877 functional colonic disease DOID:3878 intestinal pseudo-obstruction Pseudo-obstruction of intestine (disorder) EXACT [SNOMEDCT_2005_07_31:235825006] DOID:3881 Proteus infectious disease Proteus infection NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186438002] DOID:3883 Lynch syndrome An autosomal dominant disease that is characterized by \nand has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. [url:http\://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer, url:http\://ghr.nlm.nih.gov/condition/lynch-syndrome] HNPCC - hereditary nonpolyposis colon cancer EXACT [SNOMEDCT_2005_07_31:315058005] DOID:3890 acute intermittent porphyria Pyrroloporphyria EXACT [MTHICD9_2006:277.1] DOID:3891 placental insufficiency A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. [url:http\://en.wikipedia.org/wiki/Placental_insufficiency] DOID:3892 insulinoma An adenoma that is located_in the pancreas and is characterized by overproduction of insulin. [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001424/] Islet cell adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:76345009] DOID:3893 hidrocystoma Hidrocystoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:80549000] DOID:3895 apocrine adenoma tubular Apocrine adenoma EXACT [NCI2004_11_17:C27527] DOID:3896 hidradenoma Syringoadenoma (disorder) EXACT [SNOMEDCT_2005_07_31:255182002] DOID:3898 skin appendage adenoma skin appendage adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:55681005] DOID:3899 skin appendage neoplasm Adnexal and skin appendage tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134319006] DOID:390 obstetric venous problem postpartum deep-vein thrombosis EXACT [] DOID:3901 vulvitis DOID:3902 pseudorabies A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. [url:http\://en.wikipedia.org/wiki/Pseudorabies, url:http\://www.plospathogens.org/article/info\:doi%2F10.1371%2Fjournal.ppat.1000640] mad itch EXACT [] DOID:3904 bronchus carcinoma A bronchus cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] BC - Bronchogenic carcinoma EXACT [SNOMEDCT_2005_07_31:254622008] DOID:3905 lung carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. [url:https\://merck.com/mmpe/sec05/ch062/ch062b.html] carcinoma of lung RELATED [] DOID:3906 bronchial neoplasm neoplasm of bronchus (disorder) EXACT [SNOMEDCT_2005_07_31:126705004] DOID:3907 lung squamous cell carcinoma A non-small cell lung carcinoma that has_material_basis_in the squamous cell. [url:http\://cancergenome.nih.gov/cancersselected/lungsquamouscell, url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung, url:http\://www.cancer.gov/dictionary?CdrID=46595] squamous cell carcinoma of lung RELATED [] DOID:3908 non-small cell lung carcinoma A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. [url:http\://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma] NSCLC EXACT [CSP2005:4005-0042] DOID:3909 bronchogenic lung adenocarcinoma Bronchiogenic adenocarcinoma EXACT [NCI2004_11_17:C7948] DOID:3910 lung adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. [url:http\://cancergenome.nih.gov/cancersselected/lungadenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung] nonsmall cell adenocarcinoma EXACT [] DOID:3911 progeria Progeria syndrome (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:46238000] DOID:3914 serous cystadenoma of ovary Ovarian serous Cystadenoma EXACT [NCI2004_11_17:C4511] DOID:3916 borderline malignancy serous cystadenoma Low Malignancy Potential serous Cystadenoma EXACT [NCI2004_11_17:C4177] DOID:3917 pancreatic serous cystadenoma DOID:3918 pancreatic cystadenoma DOID:3919 pancreatic serous cystic neoplasm DOID:3923 diffuse lipomatosis DOID:3924 main bronchus cancer malignant neoplasm of main bronchus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:187859009] DOID:3925 steroid lipomatosis DOID:3926 mediastinal lipomatosis DOID:3927 pelvic lipomatosis pelvic lipomatosis (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:190802005] DOID:3928 adiposis dolorosa Dercum disease EXACT [] DOID:3930 otitis interna A otitis which involves inflammation of the inner ear. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna] inner ear infection EXACT [] DOID:3933 anterior compartment syndrome Anterior compartment syndrome EXACT [SNOMEDCT_2005_07_31:269407005] DOID:3939 lipomatous cancer malignant tumor of Adipose tissue EXACT [NCI2004_11_17:C4501] DOID:3944 Arenaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. [url:http\://en.wikipedia.org/wiki/Arenaviridae] DOID:3946 pituitary-dependent Cushing's disease pituitary-dependent Cushing disease EXACT [] DOID:3947 adrenal gland hyperfunction Overproduction of cortisol EXACT [MTHICD9_2006:255.0] DOID:3948 adrenocortical carcinoma An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma, url:http\://www.cancer.gov/cancertopics/types/adrenocortical] carcinoma of the Adrenal cortex EXACT [NCI2004_11_17:C9325] DOID:3950 adrenal carcinoma An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Adrenocortical_carcinoma] carcinoma of the Adrenal gland EXACT [NCI2004_11_17:C9324] DOID:3951 acute myocarditis DOID:3952 adrenal cortex disease disorder of adrenal cortex (disorder) EXACT [SNOMEDCT_2005_07_31:129636003] DOID:3953 adrenal gland cancer An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. [url:http\://en.wikipedia.org/wiki/Adrenal_gland] tumor of the Adrenal gland EXACT [NCI2004_11_17:C2859] DOID:3959 adrenal cortical adenocarcinoma An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adrenocortical_carcinoma] Adrenal cortical adenocarcinoma EXACT [SNOMEDCT_2005_07_31:2227007] DOID:396 Loeffler endocarditis A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis] Eosinophilic Endomyocardial disease EXACT [NCI2004_11_17:C27044] DOID:3962 follicular thyroid carcinoma A thyroid carcinoma that has_material_basis_in follicular cells. [url:http\://en.wikipedia.org/wiki/Follicular_thyroid_cancer] Thyroid adenocarcinoma EXACT [NCI2004_11_17:C27380] DOID:3963 thyroid carcinoma A thyroid cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] head and neck cancer, Thyroid EXACT [NCI2004_11_17:C4815] DOID:3964 trabecular follicular adenocarcinoma Trabecular Follicular carcinoma EXACT [NCI2004_11_17:C7385] DOID:3965 Merkel cell carcinoma trabecular carcinoma EXACT [] DOID:3968 papillary follicular thyroid adenocarcinoma DOID:3969 papillary thyroid carcinoma A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. [url:http\://cancergenome.nih.gov/cancersselected/thyroid, url:http\://en.wikipedia.org/wiki/Papillary_thyroid_cancer, url:http\://www.ncbi.nlm.nih.gov/pubmed/21455196] Papillary carcinoma of the Thyroid gland EXACT [NCI2004_11_17:C4035] DOID:397 restrictive cardiomyopathy Restrictive cardiomyopathy (disorder) EXACT [SNOMEDCT_2005_07_31:415295002] DOID:3973 thyroid medullary carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. [url:http\://en.wikipedia.org/wiki/Medullary_thyroid_cancer] Ultimobranchial thyroid tumour EXACT [SNOMEDCT_2005_07_31:128916007] DOID:3974 medullary carcinoma Medullary carcinoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189711009] DOID:3978 extrinsic cardiomyopathy A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html] DOID:398 cutaneous tuberculosis Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination EXACT [ICD9CM_2006:017.00] DOID:3981 pantothenate kinase-associated neurodegeneration A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. [url:http\://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration, url:http\://www.ninds.nih.gov/disorders/nbia/nbia.htm] Pigmentary pallidal degeneration (disorder) EXACT [SNOMEDCT_2005_07_31:2992000] DOID:3982 Meige syndrome A cranio-facial dystonia that is accompanied by blepharospasm. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] Meige syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:230325003] DOID:3983 oesophagostomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm] Infection by Oesophagostomum EXACT [SNOMEDCT_2005_07_31:22500005] DOID:3984 Strongylus equinus infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf] Infection by Strongylus equinus (disorder) EXACT [SNOMEDCT_2005_07_31:67509002] DOID:3985 ostertagiasis A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. [url:http\://jvdi.org/cgi/reprint/1/2/195.pdf] DOID:399 tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. [url:http\://www.merckmanuals.com/home/sec17/ch193/ch193a.html, url:www.uphs.upenn.edu/bugdrug/antibiotic_manual/atstbdx99.pdf] tuberculous abscess EXACT [] DOID:3996 urinary system cancer An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. [url:http\://en.wikipedia.org/wiki/Urinary_system] DOID:3997 urinary tract infiltrating transitional cell carcinoma DOID:3998 Bartholin's gland transitional cell carcinoma Bartholin gland transitional cell carcinoma EXACT [] DOID:3999 Bartholin's gland carcinoma A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. [url:http\://en.wikipedia.org/wiki/Bartholin%27s_gland, url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of Bartholin's gland (disorder) EXACT [SNOMEDCT_2005_07_31:276876007] DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. [url:http\://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf] DOID:4000 ovary transitional cell carcinoma transitional cell carcinoma of Ovary EXACT [NCI2004_11_17:C5240] DOID:4001 ovarian carcinoma Ovarian carcinoma EXACT [NCI2004_11_17:C4908] DOID:4003 Schneiderian carcinoma Cylindrical cell carcinoma EXACT [SNOMEDCT_2005_07_31:5600009] DOID:4005 endometrial transitional cell carcinoma DOID:4006 urinary bladder urothelial carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. [url:http\://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma, url:http\://www.cancer.gov/dictionary?cdrid=46629] urothelial bladder carcinoma EXACT [] DOID:4007 bladder carcinoma A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://nci.nih.gov/cancertopics/types/bladder] carcinoma of urinary bladder EXACT [NCI2004_11_17:C4912] DOID:4008 fallopian tube transitional cell carcinoma DOID:4009 renal pelvis and ureter transitional cell cancer Urothelial carcinoma of the renal Pelvis and Ureter EXACT [NCI2004_11_17:C7716] DOID:401 multidrug-resistant tuberculosis A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. [url:http\://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis] DOID:4010 renal pelvis and ureter cancer DOID:4011 prostate transitional cell carcinoma transitional cell carcinoma of prostate EXACT [NCI2004_11_17:C5540] DOID:4012 papillary transitional carcinoma A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. [url:http\://esynopsis.uchc.edu/eAtlas/GU/908.htm] Papillary transitional cell carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:12400006] DOID:4013 urethra transitional cell carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. [url:http\://cancer.emedtv.com/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29.html] urethral transitional cell carcinoma EXACT [NCI2004_11_17:C6166] DOID:4014 sarcomatoid transitional cell carcinoma A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. [url:http\://www.sciencedirect.com/science/article/pii/S0090429505013439, url:http\://www.tua.org.tw/magazine/FileM/dw2008331112526_10734.pdf] transitional spindle cell carcinoma EXACT [NCI2004_11_17:C4120] DOID:4015 spindle cell carcinoma A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells. [url:http\://medical-dictionary.thefreedictionary.com/spindle+cell+carcinoma] spindle cell carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:65692009] DOID:402 oral tuberculosis A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16900894] Oral tuberculosis (disorder) EXACT [SNOMEDCT_2005_07_31:235067001] DOID:4020 psychomotor disease psychomotor disorder EXACT [CSP2005:2484-1601] DOID:4022 ureterocele DOID:4023 linitis plastica Linitis plastica (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:37995004] DOID:4024 scirrhous adenocarcinoma An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. [url:http\://www.online-medical-dictionary.org/Scirrhous+Adenocarcinoma.asp?q=Scirrhous+Adenocarcinoma] Scirrhous adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:4584002] DOID:4025 steatitis DOID:4026 vitamin E deficiency DOID:4027 fetal distress Fetal distress unspecified (finding) EXACT [SNOMEDCT_2005_07_31:199591006] DOID:4028 angioma serpiginosum A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. [url:http\://www.dermnetnz.org/vascular/angioma-serpiginosa.html] Angioma serpiginosum of skin EXACT [SNOMEDCT_2005_07_31:195382003] DOID:4029 gastritis A stomach disease that is an inflammation of the lining of the stomach. [url:http\://en.wikipedia.org/wiki/Gastritis] Idiopathic erosive/hemorrhagic gastritis (disorder) EXACT [SNOMEDCT_2005_07_31:18338004] DOID:403 mouth disease A gastrointestinal system disease that is located_in the mouth. [url:http\://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology] DOID:4030 eosinophilic gastritis Eosinophilic gastritis [Ambiguous] EXACT [SNOMEDCT_2005_07_31:196738004] DOID:4031 eosinophilic gastroenteritis Eosinophilic gastroenteritis (disorder) EXACT [SNOMEDCT_2005_07_31:359804008] DOID:4033 bacterial gastritis A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/gastritis/, url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html] DOID:4034 fungal gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. [url:url\:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] DOID:4035 lymphocytic gastritis Lymphocytic gastritis [Ambiguous] EXACT [SNOMEDCT_2005_07_31:235658000] DOID:4036 Helicobacter pylori gastritis A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. [url:http\://jcp.bmjjournals.com/content/54/10/774.full, url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html] Helicobacter-associated gastritis (disorder) EXACT [SNOMEDCT_2005_07_31:89538001] DOID:4037 necrotizing gastritis DOID:4038 granulomatous gastritis DOID:4039 Crohn's associated gastritis DOID:404 gastrointestinal tuberculosis An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. [url:http\://emedicine.medscape.com/article/376015-overview, url:http\://smj.sma.org.sg/5006/5006pe1.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/12864956] Tuberculosis of intestines, peritoneum, and mesenteric glands EXACT [ICD9CM_2006:014] DOID:4043 skeletal muscle cancer malignant tumor of Skeletal Muscle EXACT [NCI2004_11_17:C6516] DOID:4044 skeletal muscle neoplasm tumor of Skeletal Muscle EXACT [NCI2004_11_17:C6514] DOID:4045 muscle cancer A musculoskeletal system cancer that is located_in muscle. [url:http\://en.wikipedia.org/wiki/Muscle] Myosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:20667008] DOID:4047 liver rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6] Rhabdomyosarcoma of Liver EXACT [NCI2004_11_17:C5834] DOID:4048 central nervous system rhabdomyosarcoma Rhabdomyosarcoma of the CNS EXACT [NCI2004_11_17:C5464] DOID:4049 mediastinum rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents. [url:http\://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=655;epage=656;aulast=Moorthy] Rhabdomyosarcoma of mediastinum EXACT [NCI2004_11_17:C6617] DOID:4050 mediastinum sarcoma A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. [url:http\://www.searchmedica.com/search.html?q=mediastinal%20sarcoma] sarcoma of mediastinum EXACT [NCI2004_11_17:C6606] DOID:4051 alveolar rhabdomyosarcoma pediatric Alveolar Rhabdomyosarcoma EXACT [NCI2004_11_17:C7958] DOID:4052 rhabdomyosarcoma recurrent relapsed Rhabdomyosarcoma EXACT [NCI2004_11_17:C8824] DOID:4053 rectum rhabdomyosarcoma A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] Rhabdomyosarcoma of rectum EXACT [NCI2004_11_17:C5627] DOID:4054 prostate sarcoma A prostate cancer that is located_in the prostate. [url:http\://www.searchmedica.com/search.html?q=prostate%20sarcoma] sarcoma of the prostate EXACT [NCI2004_11_17:C7731] DOID:4055 ectomesenchymoma Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128750008] DOID:4056 adult rhabdomyosarcoma DOID:4057 gallbladder rhabdomyosarcoma A gallbladder sarcoma that is located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma, url:http\://gut.bmj.com/content/35/6/854] Rhabdomyosarcoma of the gallbladder EXACT [NCI2004_11_17:C5839] DOID:4058 gallbladder sarcoma A sarcoma that is located_in the gallbladder. [url:http\://www.searchmedica.com/search.html?q=gallbladder%20sarcoma&c=pc&ss=defLink&fr=true] malignant mesenchymal tumor of gallbladder EXACT [NCI2004_11_17:C5736] DOID:4059 ovary rhabdomyosarcoma Rhabdomyosarcoma of Ovary EXACT [NCI2004_11_17:C5236] DOID:4060 breast rhabdomyosarcoma Rhabdomyosarcoma of the breast EXACT [NCI2004_11_17:C5190] DOID:4061 testis rhabdomyosarcoma A testis sarcoma that arises from mesenchymal cells and is located_in the testis. [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=21470524] Rhabdomyosarcoma of testis EXACT [NCI2004_11_17:C6378] DOID:4062 testis sarcoma A sarcoma and malignant neoplasm of testis that is located_in the testis. [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss=] sarcoma of testis EXACT [NCI2004_11_17:C6359] DOID:4064 bile duct sarcoma A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. [url:http\://en.wikipedia.org/wiki/Sarcoma_botryoides] sarcoma of the bile duct EXACT [NCI2004_11_17:C5029] DOID:4065 mixed type rhabdomyosarcoma mixed type Rhabdomyosarcoma EXACT [NCI2004_11_17:C4259] DOID:4066 anus rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. [url:http\://wiki.medpedia.com/Childhood_Rhabdomyosarcoma] rhabdomyosarcoma of anus EXACT [NCI2004_11_17:C5610] DOID:4067 anus sarcoma A sarcoma and malignant neoplasm of anus that is located_in the anus. [url:http\://en.wikipedia.org/wiki/Sarcoma] sarcoma of anus EXACT [NCI2004_11_17:C5611] DOID:407 hepatic tuberculosis A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. [url:http\://lrsitbrd.nic.in/IJTB/Year%201994/July%201994/July%201994%20B.pdf] Tuberculosis of liver (disorder) EXACT [SNOMEDCT_2005_07_31:186273003] DOID:4071 duodenogastric reflux Duodenogastric reflux (finding) EXACT [SNOMEDCT_2005_07_31:9733003] DOID:4072 duodenal disease duodenum disorder EXACT [CSP2005:1248-4501] DOID:4073 pancreatic cystadenocarcinoma cystadenocarcinoma of pancreas (disorder) EXACT [SNOMEDCT_2005_07_31:235966007] DOID:4074 pancreas adenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] pancreatic adenocarcinoma EXACT [NCI2004_11_17:C8294] DOID:4075 bile duct cystadenocarcinoma biliary cystadenocarcinoma EXACT [NCI2004_11_17:C4130] DOID:4076 pleomorphic adenoma of the breast DOID:4077 metastasizing mixed tumor of salivary gland DOID:4078 tricuspid valve stenosis A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. [url:http\://en.wikipedia.org/wiki/Tricuspid_valve_stenosis] Tricuspid valve stenosis (disorder) EXACT [SNOMEDCT_2005_07_31:49915006] DOID:4079 heart valve disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). [url:http\://en.wikipedia.org/wiki/Heart_valve_disease] Valvular heart disease (disorder) EXACT [SNOMEDCT_2005_07_31:195013005] DOID:4080 tricuspid valve insufficiency A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. [url:http\://en.wikipedia.org/wiki/Tricuspid_insufficiency] Tricuspid valve regurgitation (disorder) EXACT [SNOMEDCT_2005_07_31:111287006] DOID:4084 testicular trophoblastic tumor DOID:4085 trophoblastic neoplasm A germ cell and embryonal cancer that derives_from trophoblastic tissue. [url:http\://en.wikipedia.org/wiki/Trophoblastic_neoplasm] Trophoblastic tumor (qualifier value) EXACT [SNOMEDCT_2005_07_31:134334000] DOID:4086 testicular germ cell tumor non-seminomatous DOID:4087 testicular pure germ cell tumor DOID:4088 Torovirus infectious disease A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. [url:http\://www.expasy.org/viralzone/all_by_species/127.html] DOID:409 liver disease hepatic disorder EXACT [NCI2004_11_17:C3196] DOID:4090 agnosia A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. [url:http\://en.wikipedia.org/wiki/Agnosia] Dyspraxia syndrome EXACT [MTHICD9_2006:315.4, SNOMEDCT_2005_07_31:192146008] DOID:4091 Caliciviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. [url:http\://en.wikipedia.org/wiki/Caliciviridae] DOID:4092 vesicular exanthema of swine A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm] VES EXACT [SNOMEDCT_2005_07_31:17811000] DOID:4099 metastatic squamous cell carcinoma squamous cell carcinoma, metastatic NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189567004] DOID:410 tuberculous ascites Tuberculous ascites (disorder) EXACT [SNOMEDCT_2005_07_31:4501007] DOID:4102 secondary carcinoma secondary carcinoma NOS (disorder) EXACT [SNOMEDCT_2005_07_31:287689004] DOID:4104 rinderpest A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. [url:http\://en.wikipedia.org/wiki/Rinderpest] steppe murrain EXACT [] DOID:4105 canine distemper A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. [url:http\://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp] DOID:4106 commensal Bacteroidaceae infectious disease DOID:4107 primary Flavobacteriaceae infectious disease DOID:4109 tick infestation A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. [url:http\://en.wikipedia.org/wiki/Tick, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm] DOID:411 bovine tuberculosis Infection due to Mycobacterium bovis (disorder) EXACT [SNOMEDCT_2005_07_31:373437006] DOID:4110 parasitic ectoparasitic infectious disease A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. [url:http\://en.wikipedia.org/wiki/Ectoparasitic_infestation] ectoparasitism EXACT [CSP2005:2214-2667] DOID:4111 cervical adenosarcoma A cervical carcinosarcoma that is located_in the cervix. [url:http\://dx.doi.org/10.1016/j.ygyno.2006.12.029] cervical mullerian adenosarcoma EXACT [] DOID:4112 cervical carcinosarcoma cervical mixed epithelial and mesenchymal neoplasm EXACT [] DOID:4113 uterine corpus adenosarcoma An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. [url:http\://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm] uterine Corpus mullerian adenosarcoma EXACT [NCI2004_11_17:C6336] DOID:4114 uterine body mixed cancer A uterine corpus cancer that has_material_basis_in more than one type of cell. [url:http\://en.wikipedia.org/wiki/Uterine_cancer] malignant mixed tumor of Corpus Uteri EXACT [NCI2004_11_17:C6311] DOID:4115 ovarian mesodermal adenosarcoma An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary. [url:http\://www.google.com/search?q=ovarian+mesodermal+adenosarcoma&ie=utf-8&oe=utf-8&aq=t&rls=org.mozilla\:en-US\:official&client=firefox-a] Ovarian mullerian Adenosarcoma EXACT [NCI2004_11_17:C7317] DOID:4117 vaginal adenosarcoma A vaginal carcinosarcoma derives_from the glands that line the uterus. [url:http\://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm] DOID:4118 colon neuroendocrine neoplasm Colonic neuroendocrine tumor EXACT [NCI2004_11_17:C5697] DOID:4119 intestinal neuroendocrine benign tumor neuroendocrine tumor of Intestine EXACT [NCI2004_11_17:C5695] DOID:412 atypical Mycobacterium infectious disease Mycobacterial infection, NOS (excluding tuberculosis and leprosy) EXACT [SNOMEDCT_2005_07_31:88415009] DOID:4121 West Nile virus infectious disease A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. [url:http\://en.wikipedia.org/wiki/West_Nile_virus, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm] DOID:4123 nail disease An integumentary system disease that is located_in nail. [url:http\://en.wikipedia.org/wiki/Nail_disease] DOID:413 avian tuberculosis A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. [url:http\://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf] Infection due to Mycobacterium avium (disorder) EXACT [SNOMEDCT_2005_07_31:371685005] DOID:4131 erythrasma Infection due to Corynebacterium minutissimum (disorder) EXACT [SNOMEDCT_2005_07_31:264207005] DOID:4136 myxosarcoma Myxosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:28351005] DOID:4137 common bile duct disease DOID:4138 bile duct disease disorder of bile duct (disorder) EXACT [SNOMEDCT_2005_07_31:118926004] DOID:414 cardiovascular tuberculosis DOID:4140 biliary dyskinesia A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. [url:http\://en.wikipedia.org/wiki/Biliary_dyskinesia] sphincter of oddi dysfunction EXACT [] DOID:4141 intraorbital meningioma A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. [url:http\://www.mayfieldclinic.com/pe-meni.htm] DOID:4142 meningioma by site DOID:4143 orbital cancer A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. [url:http\://eyecancer.com/Patient/Condition.aspx?nID=19&Category=Orbital+Tumors&Condition=General+Information+About+Orbital+Tumors] orbital tumor EXACT [NCI2004_11_17:C3290] DOID:4144 herpes zoster dermatitis Herpes zoster dermatitis (disorder) EXACT [SNOMEDCT_2005_07_31:400020001] DOID:4147 gastrointestinal adenoma GI adenoma EXACT [] DOID:4148 gastrointestinal neuroendocrine benign tumor DOID:4151 skull base chordoma A chordoma that is located_in the skull base. [url:http\://www.bcm.edu/oto/grand/10192.html] Chordoma of the Skull Base EXACT [NCI2004_11_17:C5453] DOID:4152 chondroid chordoma A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. [url:http\://www.bcm.edu/oto/grand/10192.html] Chondroid chordoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128784007] DOID:4153 spinal chordoma A chordoma that derives_from the spine. [url:http\://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html] Chordoma of Spine EXACT [NCI2004_11_17:C5156] DOID:4154 dentinogenesis imperfecta DOID:4156 primary syphilis A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis] Symptomatic early syphilis (disorder) EXACT [SNOMEDCT_2005_07_31:57334003] DOID:4157 secondary syphilis A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis] secondary syphilis of viscera or bone EXACT [] DOID:4159 skin cancer An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002414/] melanoma and Non-melanoma skin cancer EXACT [NCI2004_11_17:C2920] DOID:4160 differentiating neuroblastoma DOID:4161 relapsed neuroblastoma DOID:4163 ganglioneuroblastoma Ganglioneuroblastoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:69515008] DOID:4164 cerebral neuroblastoma neuroblastoma of the cerebral hemisphere EXACT [] DOID:4165 regional neuroblastoma DOID:4166 syphilis A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. [url:http\://emedicine.medscape.com/article/229461-overview#a0101, url:http\://en.wikipedia.org/wiki/Syphilis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis] syphilitic chancre EXACT [] DOID:417 hypersensitivity reaction type II disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_disease] autoimmune disease EXACT [] DOID:4170 localized resectable neuroblastoma DOID:4172 localized unresectable neuroblastoma DOID:4173 disseminated neuroblastoma metastatic neuroblastoma EXACT [NCI2004_11_17:C6641] DOID:4175 Rh isoimmunization Rh incompatibility affecting management of mother EXACT [MTHICD9_2006:656.1] DOID:4176 blood group incompatibility DOID:418 systemic scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. [sn:IEDB] systemic sclerosis EXACT [ICD9CM_2006:710.1] DOID:4183 pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism (disorder) EXACT [SNOMEDCT_2005_07_31:237659007] DOID:4184 pseudohypoparathyroidism DOID:4186 articulation disorder A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. [url:http\://www.psllcnj.com/articulation_disorders.htm] Phonological disorder EXACT [MTHICD9_2006:315.39] DOID:4188 echolalia A speech disorder that involves the automatic repetition of vocalizations made by another person. [url:http\://en.wikipedia.org/wiki/Echolalia] DOID:4189 mutism A speech disorder that involves a complete inability to speak. [url:http\://en.wikipedia.org/wiki/Mutism, url:http\://en.wikipedia.org/wiki/Speech_disorder] DOID:419 scleroderma A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] dermatosclerosis EXACT [CSP2005:2716-6998] DOID:4193 intracranial thrombosis cerebral thrombosis EXACT [] DOID:4194 glucose metabolism disease disorder of glucose metabolism (disorder) EXACT [SNOMEDCT_2005_07_31:126877002] DOID:4195 hyperglycemia DOID:4196 femoral neuropathy Femoral neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:25690000] DOID:420 hypertrichosis hypertrichosis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:201165000] DOID:4200 commensal Bifidobacteriales infectious disease DOID:4201 peroneal neuropathy Peroneal Neuropathy EXACT [NCI2004_11_17:C27596] DOID:4202 brain stem glioma Brainstem Neuroglial tumor EXACT [NCI2004_11_17:C8501] DOID:4203 brain stem cancer tumor of the Brainstem EXACT [NCI2004_11_17:C4869] DOID:4205 cerebellum cancer malignant tumor of Cerebellum EXACT [NCI2004_11_17:C3569] DOID:4206 childhood brain stem neoplasm pediatric tumor of Brainstem EXACT [NCI2004_11_17:C5969] DOID:4207 childhood infratentorial neoplasm pediatric Infratentorial tumor EXACT [NCI2004_11_17:C5802] DOID:4209 brainstem intraparenchymal clear cell meningioma Intraparenchymal Clear cell meningioma of the Brainstem EXACT [NCI2004_11_17:C5295] DOID:421 hair disease An integumentary system disease that is located_in hair. [url:http\://en.wikipedia.org/wiki/Hair_disease] DOID:4210 clear cell meningioma Clear cell meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:57606003] DOID:4211 posterior cranial fossa meningioma meningioma of the Posterior Cranial Fossa EXACT [NCI2004_11_17:C6775] DOID:4217 malignant ovarian Brenner tumor malignant Ovarian Brenner tumor EXACT [NCI2004_11_17:C4270] DOID:422 congenital structural myopathy DOID:4223 pyoderma Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. [url:http\://en.wikipedia.org/wiki/Pyoderma, url:http\://en.wikipedia.org/wiki/Pyogenic] DOID:4224 adult soft tissue sarcoma A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. [url:http\://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma] adult sarcoma of the soft tissue EXACT [NCI2004_11_17:C7707] DOID:4226 endometrial stromal sarcoma Undifferentiated endometrial sarcoma EXACT [NCI2004_11_17:C8972] DOID:4227 uterine corpus endometrial stromal sarcoma uterine corpus endometrial stromal tumor EXACT [] DOID:4228 stromal sarcoma Stromal sarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128753005] DOID:423 myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness. [url:http\://en.wikipedia.org/wiki/Myopathy] DOID:4230 smooth muscle cancer malignant tumor of Smooth Muscle EXACT [NCI2004_11_17:C6511] DOID:4231 histiocytoma DOID:4232 extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor EXACT [] DOID:4233 clear cell sarcoma A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma] melanoma, malignant, of soft parts EXACT [SNOMEDCT_2005_07_31:12622007] DOID:4235 spindle cell sarcoma A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. [url:http\://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma] DOID:4236 carcinosarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. [url:http\://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor, url:http\://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English, url:http\://www.cancer.gov/dictionary/?CdrID=44003] mullerian mixed tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:84427001] DOID:4238 malignant soft tissue neoplasm of central nervous system malignant soft tissue tumor of CNS EXACT [NCI2004_11_17:C6758] DOID:4239 alveolar soft part sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. [url:http\://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma] pediatric Alveolar soft Part sarcoma EXACT [NCI2004_11_17:C8092] DOID:424 pulmonary immaturity primary atelectasis, in perinatal period EXACT [SNOMEDCT_2005_07_31:42908004] DOID:4240 malignant miscellaneous mesenchymal tumor DOID:4242 kidney sarcoma A kidney cancer that is located_in the kidney's connective tissue. [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp] sarcoma of kidney (disorder) EXACT [SNOMEDCT_2005_07_31:254918001] DOID:4245 extraskeletal cartilaginous and osseous tumor DOID:4246 malignant mediastinal mesenchymal tumor malignant soft tissue tumor of mediastinum EXACT [NCI2004_11_17:C6642] DOID:4247 coronary restenosis DOID:4248 coronary stenosis Coronary artery stenosis (disorder) EXACT [SNOMEDCT_2005_07_31:233970002] DOID:4249 Gerstmann-Straussler-Scheinker syndrome A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. [url:http\://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome, url:http\://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease, url:http\://www.cdc.gov/ncidod/dvrd/prions/] PRION DEMENTIA EXACT [] DOID:425 certain conditions originating in the perinatal period DOID:4250 conjunctivochalasis DOID:4251 conjunctival disease DOID:4252 Alexander disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. [url:http\://en.wikipedia.org/wiki/Alexander_disease, url:http\://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm, url:http\://www.omim.org/entry/203450, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract] Alexander's disease (disorder) EXACT [SNOMEDCT_2005_07_31:81854007] DOID:4253 melorheostosis An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. [url:http\://en.wikipedia.org/wiki/Melorheostosis, url:http\://www.melorheostosis.com/, url:http\://www.orthopaedia.com/display/Main/Melorheostosis] DOID:4254 osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass. [url:http\://en.wikipedia.org/wiki/Osteosclerosis, url:http\://medical-dictionary.thefreedictionary.com/osteosclerosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteosclerosis.aspx] DOID:4256 rheumatism DOID:4257 Caffey disease A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. [url:http\://emedicine.medscape.com/article/406697-overview, url:http\://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/c/caffeys_disease.aspx] infantile cortical hyperostosis EXACT [] DOID:4258 Weissenbacher-Zweymüller syndrome An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. [url:http\://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome, url:http\://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351, url:http\://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1] Pierre Robin Malformation EXACT [] DOID:4260 gait apraxia Gait apraxia (finding) EXACT [SNOMEDCT_2005_07_31:30767006] DOID:4263 drug-induced akathisia Drug-induced akathisia (disorder) EXACT [SNOMEDCT_2005_07_31:230333002] DOID:4265 angiomyoma vascular leiomyoma EXACT [NCI2004_11_17:C3747] DOID:4266 intravascular angioleiomyoma DOID:4267 akinetic mutism A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. [url:http\://en.wikipedia.org/wiki/Akinetic_mutism, url:http\://www.ncbi.nlm.nih.gov/pubmed/14642361] Coma vigilans (finding) EXACT [SNOMEDCT_2005_07_31:5124002] DOID:4270 encephalitozoonosis A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. [url:http\://jvdi.org/cgi/reprint/5/4/649.pdf, url:http\://www.petplace.com/dogs/encephalitozoonosis/page1.aspx] Infection by Encephalitozoon (disorder) EXACT [SNOMEDCT_2005_07_31:12825006] DOID:4271 microsporidiosis An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm] Infection by Microsporida (disorder) EXACT [SNOMEDCT_2005_07_31:61842000] DOID:4273 bovine hemorrhagic syndrome A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. [url:http\://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML] DOID:4274 Pestivirus infectious disease A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. [url:http\://en.wikipedia.org/wiki/Pestivirus] DOID:4277 penis basal cell carcinoma basal cell carcinoma of the penis RELATED [] DOID:4278 scrotum basal cell carcinoma basal cell carcinoma of the scrotum RELATED [] DOID:4279 infundibulocystic basal cell carcinoma skin infundibulocystic basal cell carcinoma EXACT [] DOID:4280 nodular basal cell carcinoma skin solid (nodular) Basal cell carcinoma EXACT [NCI2004_11_17:C5616] DOID:4281 metatypical basal cell carcinoma skin Metatypical carcinoma EXACT [NCI2004_11_17:C2922] DOID:4282 pigmented basal cell carcinoma skin pigmented basal cell carcinoma EXACT [] DOID:4283 anal margin basal cell carcinoma Basal cell carcinoma of Perianal skin EXACT [NCI2004_11_17:C7473] DOID:4284 anal margin carcinoma An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp] Perianal skin carcinoma EXACT [NCI2004_11_17:C7472] DOID:4285 complications of pregnancy, childbirth and the puerperium DOID:4286 sebaceous basal cell carcinoma skin basosebaceous basal cell carcinoma EXACT [] DOID:4287 external ear basal cell carcinoma Basal cell carcinoma of the External ear EXACT [NCI2004_11_17:C6082] DOID:4288 external ear carcinoma An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of the External ear EXACT [NCI2004_11_17:C6081] DOID:4289 micronodular basal cell carcinoma skin micronodular basal cell carcinoma EXACT [] DOID:429 gynatresia DOID:4290 adamantinoid basal cell epithelioma skin adamantinoid basal cell epithelioma EXACT [] DOID:4291 fibroepithelial basal cell carcinoma Pinkus tumor EXACT [NCI2004_11_17:C4109] DOID:4292 morpheaform basal cell carcinoma Morphea-type (Sclerosing) Basal cell carcinoma EXACT [NCI2004_11_17:C27182] DOID:4293 clear cell basal cell carcinoma skin clear cell basal cell carcinoma EXACT [] DOID:4294 adenoid basal cell carcinoma skin adenoid basal cell carcinoma EXACT [] DOID:4295 follicular basal cell carcinoma follicular (pilar) basal cell carcinoma EXACT [] DOID:4297 scimitar syndrome total anomalous pulmonary venous return EXACT [] DOID:4298 respiratory system abnormality DOID:4299 infiltrative basal cell carcinoma skin infiltrating basal cell carcinoma EXACT [] DOID:4300 superficial basal cell carcinoma Superficial multicentric basal-cell carcinoma EXACT [] DOID:4301 vulva basal cell carcinoma Basal cell carcinoma of Vulva EXACT [NCI2004_11_17:C6381] DOID:4302 cystic basal cell carcinoma skin cystic basal cell carcinoma EXACT [] DOID:4303 sarcomatoid basal cell carcinoma skin sarcomatoid basal cell carcinoma EXACT [] DOID:4304 signet ring basal cell carcinoma skin signet ring cell basal cell carcinoma EXACT [] DOID:4305 bone giant cell tumor A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone] osteoclastoma RELATED [] DOID:4306 radiculopathy nerve root disorder, NOS EXACT [SNOMEDCT_2005_07_31:72274001] DOID:4307 polyradiculopathy Polyradiculopathy (disorder) EXACT [SNOMEDCT_2005_07_31:75572007] DOID:4308 polyradiculoneuropathy Polyradiculoneuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:128078004] DOID:431 myofascial pain syndrome DOID:4310 smooth muscle tumor Smooth muscle tumour of uncertain malignant potential EXACT [SNOMEDCT_2005_07_31:75109009] DOID:4313 epidermolysis bullosa acquisita acquired epidermolysis bullosa (disorder) EXACT [SNOMEDCT_2005_07_31:2772003] DOID:4318 visna A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf] Ovine encephalomyelitis EXACT [SNOMEDCT_2005_07_31:59350003] DOID:4320 non-gestational choriocarcinoma DOID:4321 large cell acanthoma DOID:4322 pilar sheath acanthoma Pilar sheath acanthoma (disorder) EXACT [SNOMEDCT_2005_07_31:254693008] DOID:4323 epidermolytic acanthoma DOID:4324 acantholytic acanthoma Acantholytic acanthoma EXACT [NCI2004_11_17:C27517] DOID:4325 Ebola hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm] Ebola virus disease EXACT [SNOMEDCT_2005_07_31:186746000] DOID:4326 Filoviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. [url:http\://en.wikipedia.org/wiki/Filoviridae] DOID:4327 Marburg hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm] Marburg virus disease EXACT [] DOID:4329 Erdheim-Chester disease DOID:433 Intraventricular hemorrhage from any perinatal cause DOID:4330 non-langerhans-cell histiocytosis Non-Langerhans cell histiocytosis EXACT [SNOMEDCT_2005_07_31:127069007] DOID:4331 burning mouth syndrome Stomatopyrosis EXACT [SNOMEDCT_2005_07_31:399165002] DOID:4332 familial hypophosphatemia Hypophosphatemia, familial EXACT [MTH:U000306] DOID:4333 parovarian cyst Embryonic fimbrial cyst EXACT [SNOMEDCT_2005_07_31:64233004] DOID:4334 splenic manifestation of prolymphocytic leukemia DOID:4336 tinea favosa A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm] Tinea favosa (disorder) EXACT [SNOMEDCT_2005_07_31:85375000] DOID:4337 tinea capitis A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000878.htm] Trichophyton rubrum tinea capitis EXACT [] DOID:434 anterior mediastinum cancer DOID:4346 variegate porphyria Variegate porphyria (disorder) EXACT [SNOMEDCT_2005_07_31:58275005] DOID:4347 lymphocele Lymphocyst (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:12167004] DOID:4349 complications occurring mainly in the course of labor and delivery Rupture of uterus before onset of labor, with delivery EXACT [] DOID:435 malignant neoplasm of thymus, heart and mediastinum DOID:4350 bovine anaplasmosis Anaplasmosis (disorder) EXACT [SNOMEDCT_2005_07_31:13906002] DOID:4351 primary Anaplasmataceae infectious disease DOID:4352 ciliary body cancer tumor of the Ciliary body EXACT [NCI2004_11_17:C4364] DOID:4353 ciliary body disease DOID:4356 regressing malignant melanoma regressing melanoma EXACT [NCI2004_11_17:C4228] DOID:4357 experimental melanoma Experimental malignant melanoma EXACT [NCI2004_11_17:C16835] DOID:4358 metastatic melanoma DOID:4359 amelanotic melanoma Amelanotic melanoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:70594002] DOID:436 posterior mediastinum cancer DOID:4360 epithelioid cell melanoma epithelioid melanoma EXACT [NCI2004_11_17:C4236] DOID:4362 cervical cancer A female reproductive organ cancer that is located_in the cervix. [url:http\://cancergenome.nih.gov/cancersselected/cervicalcancer, url:http\://en.wikipedia.org/wiki/Cervical_cancer, url:http\://www.cancer.gov/dictionary?CdrID=444973] uterine cervical neoplasm EXACT [] DOID:4364 malignant breast melanoma malignant melanoma of breast (disorder) EXACT [SNOMEDCT_2005_07_31:188050009] DOID:4367 apparent mineralocorticoid excess syndrome syndrome of apparent mineralocorticoid excess (disorder) EXACT [SNOMEDCT_2005_07_31:237770005] DOID:4369 brain hypoxia-Ischemia DOID:437 myasthenia gravis DOID:4370 stomach diverticulosis DOID:4371 Schnitzler syndrome Schnitzler syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:402415001] DOID:4372 intracranial embolism Cerebral embolism with cerebral infarction EXACT [] DOID:4374 silo filler's disease Silo-fillers' disease EXACT [MTHICD9_2006:506.9] DOID:4375 agricultural workers' disease DOID:4376 milk allergy A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. [url:http\://en.wikipedia.org/wiki/Milk_hypersensitivity] milk allergic reaction EXACT [] DOID:4377 egg allergy A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergy#Foods] Allergy to eggs (disorder) EXACT [SNOMEDCT_2005_07_31:91930004] DOID:4378 peanut allergy A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergy#Foods] peanut allergic reaction EXACT [SNOMEDCT_2005_07_31:91935009] DOID:4379 nut allergy nut allergic reaction EXACT [SNOMEDCT_2005_07_31:395654004] DOID:438 autoimmune disease of the nervous system autoimmune nervous system disorder RELATED [CSP2005:1560-5548] DOID:4381 conventional alveolar rhabdomyosarcoma DOID:4383 solid alveolar rhabdomyosarcoma DOID:4384 orbit alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma of the orbit EXACT [NCI2004_11_17:C6247] DOID:4385 papillary squamous carcinoma A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. [url:http\://www.sciencedirect.com/science/article/pii/S0090825803003299] papillary epidermoid carcinoma EXACT [] DOID:4386 myofibroma Myofibroma (morphologic abnormality) EXACT [] DOID:4387 recurrent peripheral primitive neuroectodermal tumor DOID:4388 bone peripheral neuroepithelioma osseous peripheral Neuroepithelioma EXACT [NCI2004_11_17:C8776] DOID:4389 soft tissue peripheral neuroepithelioma peripheral Neuroectodermal tumor of soft tissues EXACT [NCI2004_11_17:C27471] DOID:439 neuromuscular junction disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. [url:http\://en.wikipedia.org/wiki/Neuromuscular_junction_disease] DOID:4393 Henipavirus infectious disease A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. [url:http\://en.wikipedia.org/wiki/Henipavirus, url:http\://www.expasy.org/viralzone/all_by_species/85.html] DOID:4394 reticulohistiocytic granuloma Solitary reticulohistiocytoma EXACT [SNOMEDCT_2005_07_31:404162004] DOID:4397 granulomatous dermatitis DOID:4398 pustulosis of palm and sole Pustular psoriasis of the palms and/or soles EXACT [SNOMEDCT_2005_07_31:27520001] DOID:4399 acneiform dermatitis DOID:440 neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles. [url:http\://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html] DOID:4400 dermatosis papulosa nigra Dermatosis papulosa nigra (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:103672009] DOID:4403 cervical glandular tumor DOID:4404 occupational dermatitis Occupational eczema (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:83252008] DOID:4406 spongiotic dermatitis Spongiotic dermatitis (disorder) EXACT [SNOMEDCT_2005_07_31:23615008] DOID:4407 phototoxic dermatitis Phototoxic dermatitis (disorder) EXACT [SNOMEDCT_2005_07_31:53597009] DOID:4409 folliculitis (Folliculitis) or (seborrhea capitis) EXACT [SNOMEDCT_2005_07_31:201177005] DOID:4410 contact dermatitis due to arnica Dermatitis due to arnica EXACT [MTHICD9_2006:692.3] DOID:4411 hepatitis E A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. [url:http\://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1] DOID:4412 Astroviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. [url:http\://en.wikipedia.org/wiki/Astroviridae] DOID:4413 cervix melanoma DOID:4415 fibrous histiocytoma Fibroxanthoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189770002] DOID:4418 cutaneous fibrous histiocytoma Sclerosing angioma of skin EXACT [SNOMEDCT_2005_07_31:403999006] DOID:4419 benign deep fibrous histiocytoma DOID:4422 malignant adenofibroma DOID:4423 sea-blue histiocyte syndrome Sea-blue histiocyte syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:37821003] DOID:4424 juvenile xanthogranuloma Xanthoma neviforme EXACT [SNOMEDCT_2005_07_31:400031009] DOID:4425 lipogranuloma Xanthogranuloma (disorder) EXACT [SNOMEDCT_2005_07_31:189099001] DOID:4428 dyslexia A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. [url:http\://en.wikipedia.org/wiki/Dyslexia] DOID:4430 somatostatinoma Somatostatinoma (disorder) EXACT [SNOMEDCT_2005_07_31:253006001] DOID:4432 pancreatic somatostatinoma pancreatic Somatostatin cell tumor EXACT [NCI2004_11_17:C8006] DOID:4433 pancreatic delta cell neoplasm pancreatic Delta cell tumor EXACT [NCI2004_11_17:C28396] DOID:4434 small intestine neuroendocrine neoplasm small Intestine neuroendocrine tumor EXACT [NCI2004_11_17:C5803] DOID:4435 cavernous sinus meningioma meningioma of the Cavernous sinus EXACT [NCI2004_11_17:C5268] DOID:4436 anterior cranial fossa meningioma meningioma of the Anterior Fossa EXACT [NCI2004_11_17:C5286] DOID:4437 skull base meningioma meningioma of the Skull Base EXACT [NCI2004_11_17:C5272] DOID:4438 central nervous system germinoma germinoma of CNS EXACT [NCI2004_11_17:C7009] DOID:4439 central nervous system germ cell tumor germ cell tumor of the CNS EXACT [NCI2004_11_17:C5461] DOID:4440 seminoma A germinoma that has_material_basis_in cells that make sperm and eggs. [url:http\://www.cancer.gov/dictionary?CdrID=46577] Seminoma, Pure EXACT [NCI2004_11_17:C9309] DOID:4441 dysgerminoma A germ cell cancer that derives_from cells that give rise to egg cells. [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] DOID:4442 cervical alveolar soft part sarcoma An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. [url:http\://www.ncbi.nlm.nih.gov/pubmed/2479947] DOID:4443 cervical soft tissue tumor DOID:4445 arachnoid cyst Leptomeningeal Cyst EXACT [NCI2004_11_17:C3455] DOID:4446 central nervous system cyst Cyst of the CNS EXACT [NCI2004_11_17:C4657] DOID:4447 cystoid macular edema DOID:4448 macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. [url:http\://ghr.nlm.nih.gov/condition/age-related-macular-degeneration, url:http\://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1] Macular degeneration of retina EXACT [MTHICD9_2006:362.50] DOID:4449 macular retinal edema macular edema EXACT [CSP2005:1114-9311] DOID:445 Bartter disease Bartter's syndrome EXACT [ICD9CM_2006:255.13] DOID:4450 renal cell carcinoma A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=661352] RCC EXACT [CSP2005:4003-0049] DOID:4451 renal carcinoma A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma] kidney carcinoma EXACT [] DOID:4452 recurrent renal cell carcinoma Relapsed Renal cell carcinoma EXACT [NCI2004_11_17:C7825] DOID:4454 childhood kidney cell carcinoma pediatric renal cell carcinoma EXACT [NCI2004_11_17:C6568] DOID:4455 hereditary renal cell carcinoma DOID:446 hyperaldosteronism An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. [url:http\://en.wikipedia.org/wiki/Hyperaldosteronism] DOID:4463 multilocular clear cell renal cell carcinoma renal cystadenocarcinoma EXACT [NCI2004_11_17:C4524] DOID:4464 collecting duct carcinoma Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). [URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] renal Medullary carcinoma EXACT [NCI2004_11_17:C7572] DOID:4465 papillary renal cell carcinoma A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. [url:http\://cancergenome.nih.gov/cancersselected/kidneypapillary, url:http\://www.omim.org/entry/605074, URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] sporadic papillary renal cell carcinoma EXACT [] DOID:4467 renal clear cell carcinoma A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. [url:http\://cancergenome.nih.gov/cancersselected/kidneyclearcell, url:http\://www.cancer.gov/dictionary?CdrID=45063, URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] conventional renal cell carcinoma EXACT [NCI2004_11_17:C4033] DOID:4468 clear cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8] Wolffian duct neoplasm EXACT [NCI2004_11_17:C6782] DOID:447 renal tubular transport disease inborn renal tubular transport disorder EXACT [CSP2005:1849-8301] DOID:4471 chromophobe adenocarcinoma A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. [url:http\://cancergenome.nih.gov/cancersselected/ChromophobeRenalCellCarcinoma, url:http\://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf, URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] renal cell carcinoma, chromophobe cell EXACT [SNOMEDCT_2005_07_31:128667008] DOID:4472 mucinous tubular and spindle renal cell carcinoma DOID:4473 sarcomatoid renal cell carcinoma renal cell carcinoma, spindle cell EXACT [SNOMEDCT_2005_07_31:128668003] DOID:4478 drug-Induced dyskinesia Drug-induced dyskinesia (disorder) EXACT [SNOMEDCT_2005_07_31:102448004] DOID:4479 pseudohypoaldosteronism DOID:448 facial neoplasm neoplasm of face (disorder) EXACT [SNOMEDCT_2005_07_31:126632002] DOID:4480 achondroplasia An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. [url:http\://en.wikipedia.org/wiki/Achondroplasia, url:http\://ghr.nlm.nih.gov/condition/achondroplasia, url:http\://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms, url:http\://www.medicinenet.com/achondroplasia/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001577.htm] osteosclerosis congenita EXACT [CSP2005:2715-2940] DOID:4481 allergic rhinitis A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_rhinitis, url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www.aaaai.org/patients/resources/easy_reader/rhinitis.pdf, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis] seasonal allergic rhinitis EXACT [] DOID:4483 rhinitis A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. [url:http\://en.wikipedia.org/wiki/Rhinitis] runny nose RELATED [] DOID:4486 malignant biphasic mesothelioma mixed Mesothelioma EXACT [NCI2004_11_17:C4282] DOID:4488 sarcomatoid mesothelioma spindled mesothelioma EXACT [SNOMEDCT_2005_07_31:54443001] DOID:4489 malignant epithelial mesothelioma epithelioid mesothelioma, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:65278006] DOID:449 head neoplasm neoplasm of the head EXACT [] DOID:4490 malignant peritoneal solitary fibrous tumor Pleural and peritoneal Solitary fibrous tumor EXACT [NCI2004_11_17:C6893] DOID:4491 persian gulf syndrome A syndrome affecting returning military veterans and civilian workers of the Gulf War. [url:http\://en.wikipedia.org/wiki/Gulf_War_syndrome] Gulf war syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:95877004] DOID:4492 avian influenza An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. [url:http\://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm, url:http\://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza] bird flu EXACT [] DOID:4493 Orthomyxoviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Orthomyxoviridae] Orthomyxoviridae disease EXACT [CSP2005:3099-9876] DOID:4496 metastatic malignant neoplasm to the cervix secondary malignant neoplasm of uterine cervix (disorder) EXACT [SNOMEDCT_2005_07_31:94251007] DOID:4499 child nutrition disorder DOID:450 myotonic disease A muscular dystrophy that is characterized by progressive muscle wasting and weakness. [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://www.genome.gov/25521207] DOID:4500 hypokalemia potassium deficiency disorder RELATED [] DOID:4501 orofaciodigital syndrome A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome] DOID:4502 relapsed angiosarcoma relapsed hemangiosarcoma EXACT [NCI2004_11_17:C5384] DOID:4504 central nervous system angiosarcoma A central nervous system sarcoma that is located_in the inner lining of blood vessels. [url:http\://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073] hemangiosarcoma of the CNS EXACT [NCI2004_11_17:C5450] DOID:4505 pediatric angiosarcoma An angiosarcoma that affects children. [url:http\://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/] pediatric hemangiosarcoma EXACT [NCI2004_11_17:C9174] DOID:4509 angiosarcoma associated with lymphedema DOID:4510 aorta angiosarcoma An angiosarcoma that is located_in the aorta. [url:http\://icvts.ctsnetjournals.org/cgi/content/full/6/6/832] Aortic hemangiosarcoma EXACT [NCI2004_11_17:C5376] DOID:4511 breast angiosarcoma An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. [url:http\://breastcancer.about.com/od/types/p/angiosarcoma.htm] hemangiosarcoma of the breast EXACT [NCI2004_11_17:C5184] DOID:4512 conventional angiosarcoma DOID:4513 gallbladder angiosarcoma An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15861270] hemangiosarcoma of gallbladder EXACT [NCI2004_11_17:C5840] DOID:4514 thyroid angiosarcoma A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. [url:http\://www.pathologyoutlines.com/thyroid.html] hemangiosarcoma of the Thyroid EXACT [NCI2004_11_17:C6043] DOID:4515 thyroid sarcoma A thyroid cancer that is located_in the supporting cells of the thyroid. [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp] sarcoma of the Thyroid gland EXACT [NCI2004_11_17:C6041] DOID:4517 skin angiosarcoma An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. [url:http\://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634] hemangiosarcoma of the skin EXACT [NCI2004_11_17:C4489] DOID:452 pleomorphic adenoma A gastrointestinal benign neoplasm that is a located_in the salivary glands. [url:http\://en.wikipedia.org/wiki/Pleomorphic_adenoma] Pleomorphic adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:8360001] DOID:4520 cervical endometrial stromal sarcoma endometrial stromal sarcoma of the cervix EXACT [] DOID:4521 cervix endometrial stromal tumor DOID:4522 superior vena cava angiosarcoma angiosarcoma of the Superior Vena Cava EXACT [NCI2004_11_17:C5378] DOID:4524 prostate angiosarcoma An angiosarcoma and sarcoma of prostate that is located_in the prostate. [url:http\://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat] Prostatic hemangiosarcoma EXACT [NCI2004_11_17:C5528] DOID:4525 mediastinum angiosarcoma An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. [url:http\://meeting.chestpubs.org/cgi/content/abstract/124/4/286S] hemangiosarcoma of mediastinum EXACT [NCI2004_11_17:C6613] DOID:4527 ovarian angiosarcoma hemangiosarcoma of Ovary EXACT [NCI2004_11_17:C5232] DOID:4531 mucoepidermoid carcinoma A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] Mucoepidermoid carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:4079000] DOID:4534 Hallermann-Streiff syndrome A syndrome that affects growth, cranial development, hair growth and dental development. [url:http\://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome] Hallermann's syndrome EXACT [] DOID:4535 hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. [url:http\://en.wikipedia.org/wiki/Hypotrichosis, url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis] DOID:4539 labyrinthine disease DOID:4540 dysgraphia A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. [url:http\://en.wikipedia.org/wiki/Dysgraphia, url:http\://www.ncld.org/ld-basics/ld-aamp-language/written-expression/dysgraphia, url:http\://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm] DOID:4541 nominal aphasia An agnosia that involves a severe problem with recalling words or names. [url:http\://en.wikipedia.org/wiki/Nominal_aphasia] Anomic aphasia (finding) EXACT [SNOMEDCT_2005_07_31:10325006] DOID:4542 basophil adenoma Pituitary gland Basophilic adenoma EXACT [NCI2004_11_17:C2856] DOID:4543 retrograde amnesia An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. [url:http\://en.wikipedia.org/wiki/Amnesia] DOID:4545 mesenchymal chondrosarcoma DOID:4546 pediatric mesenchymal chondrosarcoma DOID:4547 adult mesenchymal chondrosarcoma An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. [url:http\://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html] DOID:4548 extraskeletal mesenchymal chondrosarcoma mesenchymal extraosseous chondrosarcoma EXACT [NCI2004_11_17:C27481] DOID:4549 extraosseous chondrosarcoma A chondrosarcoma that is located_in exclusively soft tissue. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16084955] DOID:4550 anal gland neoplasm DOID:4551 anus neoplasm neoplasm of anus (disorder) EXACT [SNOMEDCT_2005_07_31:126849006] DOID:4552 large cell carcinoma A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. [url:http\://chemo.net/large.htm, url:http\://en.wikipedia.org/wiki/Carcinoma] DOID:4553 thymus large cell carcinoma large cell carcinoma of the Thymus EXACT [NCI2004_11_17:C6461] DOID:4554 type C thymoma Thymoma, type C (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128717008] DOID:4555 ovarian large-cell neuroendocrine carcinoma Non-small-cell type neuroendocrine carcinoma of Ovary EXACT [NCI2004_11_17:C5238] DOID:4556 lung large cell carcinoma large cell lung carcinoma EXACT [NCI2004_11_17:C4450] DOID:4557 oral leukoedema Leukedema of mouth EXACT [SNOMEDCT_2005_07_31:67795000] DOID:4558 Ludwig's angina Ludwig angina EXACT [] DOID:456 ascariasis A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. [url:http\://en.wikipedia.org/wiki/Ascariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh] Ascaris lumbricoides infection RELATED [] DOID:4560 non specific chronic endometritis DOID:4561 granulomatous endometritis DOID:4562 subacute bacterial endocarditis Subacute endocarditis, lenta EXACT [MTHICD9_2006:421.0] DOID:457 Ascaridida infectious disease A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. [url:http\://en.wikipedia.org/wiki/Ascaridida] DOID:4582 metastatic meningioma DOID:4583 deletion of short arm of chromosome 1 (1p) associated meningioma DOID:4584 choroid plexus meningioma meningioma of the Choroid Plexus EXACT [NCI2004_11_17:C4719] DOID:4585 relapsed meningioma DOID:4586 familial meningioma DOID:4587 benign meningioma meningioma, benign EXACT [NCI2004_11_17:C4055] DOID:4588 secretory meningioma Secretory meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:253081009] DOID:4589 deletion of chromosome 22 associated meningioma DOID:4590 multiple meningiomas meningiomatosis NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189942007] DOID:4591 lymphoplasmacyte-rich meningioma Lymphoplasmocyte-rich meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:253083007] DOID:4593 pediatric meningioma DOID:4594 microcystic meningioma Microcystic meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:253084001] DOID:4595 adult meningioma DOID:4596 central nervous system adult tumor neoplasm of adult CNS EXACT [NCI2004_11_17:C5131] DOID:4598 deletion of chromosome 3p associated meningioma DOID:4603 epidermolytic hyperkeratosis Epidermolytic palmoplantar hyperkeratosis EXACT [SNOMEDCT_2005_07_31:239071005] DOID:4606 bile duct cancer A biliary tract cancer that is located_in the bile duct. [url:http\://www.cancer.gov/dictionary/?CdrID=527370] malignant neoplasm of the extrahepatic bile duct EXACT [NCI2004_11_17:C7483] DOID:4607 biliary tract cancer A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. [url:http\://en.wikipedia.org/wiki/Biliary_tract_cancer] malignant tumour of biliary tract EXACT [SNOMEDCT_2005_07_31:93688006] DOID:4608 common bile duct neoplasm neoplasm of common bile duct (disorder) EXACT [SNOMEDCT_2005_07_31:126857009] DOID:461 muscle benign neoplasm neoplasm of muscle (disorder) EXACT [SNOMEDCT_2005_07_31:126616000] DOID:4610 intestinal benign neoplasm A gastrointestinal system benign neoplasm that is located_in the intestine. [url:http\://en.wikipedia.org/wiki/Benign_tumor] neoplasm of intestinal tract EXACT [SNOMEDCT_2005_07_31:126769007] DOID:4613 ulnar neuropathy Ulnar neuropathy (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:55802003] DOID:4615 carcinoma of unknown primary carcinoma of unknown primary EXACT [NCI2004_11_17:C3812] DOID:4616 bovine atypical interstitial pneumonia A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf] Fog fever EXACT [] DOID:4617 periapical granuloma Periapical granuloma EXACT [SNOMEDCT_2005_07_31:196344002] DOID:4618 maxillary neoplasm A jaw cancer and maxillary disease that effects the maxilla or upper jaw. [url:http\://www.vitals.com/disorders/ny-new_york-musculoskeletal_diseases-c05-upper_jaw_bone_cancer_maxillary_neoplasm-8094.html] upper jaw bone cancer RELATED [] DOID:462 cancer by anatomical entity A cancer that affects an anatomical entity. [DO:lh] malignant neoplasm of aortic body and other paraganglia (disorder) EXACT [SNOMEDCT_2005_07_31:188343003] DOID:4621 holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. [url:http\://en.wikipedia.org/wiki/Holoprosencephaly, url:http\://www.ncbi.nlm.nih.gov/books/NBK1530/] Holoprosencephaly sequence (disorder) EXACT [SNOMEDCT_2005_07_31:30915001] DOID:4624 Ollier disease A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. [url:http\://en.wikipedia.org/wiki/Ollier_disease, url:http\://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx] OSTEOCHONDROMATOSIS EXACT [] DOID:4625 enchondromatosis Ollier's disease EXACT [SNOMEDCT_2005_07_31:205469005] DOID:4626 hydranencephaly Hydranencephaly (disorder) EXACT [SNOMEDCT_2005_07_31:30023002] DOID:4627 ideomotor apraxia Transcortical apraxia (finding) EXACT [SNOMEDCT_2005_07_31:333633007] DOID:4629 porcine reproductive and respiratory syndrome A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm, url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf] DOID:4630 inverted transitional papilloma transitional papilloma, inverted EXACT [SNOMEDCT_2005_07_31:46580000] DOID:4631 inverted papilloma of paranasal sinus Inverting papilloma of Accessory sinus EXACT [NCI2004_11_17:C8195] DOID:4633 nasal cavity inverting papilloma Inverting papilloma of the nasal cavity EXACT [NCI2004_11_17:C8194] DOID:4636 submandibular adenitis Submandibular lymphadenitis (disorder) EXACT [SNOMEDCT_2005_07_31:15170009] DOID:4637 cervical adenitis cervical lymphadenitis (disorder) EXACT [SNOMEDCT_2005_07_31:3502005] DOID:4638 postauricular lymphadenitis DOID:4639 suppurative lymphadenitis Suppurative lymphadenopathy (disorder) EXACT [SNOMEDCT_2005_07_31:48573006] DOID:4640 axillary adenitis DOID:4641 Bacteroides infectious disease DOID:4644 epidermolysis bullosa simplex Epidermolysis bullosa simplex (disorder) EXACT [SNOMEDCT_2005_07_31:67144006] DOID:4645 retinal cancer Retinal tumor EXACT [NCI2004_11_17:C4800] DOID:4647 trilateral retinoblastoma A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. [url:http\://www.ncbi.nlm.nih.gov/pubmed/10391573] DOID:4648 familial retinoblastoma Hereditary Retinoblastoma EXACT [NCI2004_11_17:C8495] DOID:4650 bilateral retinoblastoma A retinoblastoma that develops in both eyes. [url:http\://en.wikipedia.org/wiki/Retinoblastoma] DOID:4651 unilateral retinoblastoma A retinoblastoma that effects only one eye. [url:http\://en.wikipedia.org/wiki/Retinoblastoma] DOID:4653 intraocular retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. [url:http\://www.answers.com/topic/intraocular-retinoblastoma] Intraocular Retinoblastoma EXACT [NCI2004_11_17:C7846] DOID:4655 relapsed retinoblastoma DOID:4656 extraocular retinoblastoma A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7] Extraocular Retinoblastoma EXACT [NCI2004_11_17:C7848] DOID:4658 benign mastocytoma benign Mastocytoma EXACT [NCI2004_11_17:C3217] DOID:4659 extracutaneous mastocytoma Extracutaneous mastocytoma EXACT [SNOMEDCT_2005_07_31:63175003] DOID:4660 indolent systemic mastocytosis ISM EXACT [NCI2004_11_17:C9286] DOID:4661 multiple chemical sensitivity A syndrome that is an adverse physical reaction to low levels of many common chemicals. [url:http\://en.wikipedia.org/wiki/Multiple_chemical_sensitivity, url:http\://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html] total allergy syndrome EXACT [] DOID:4662 thalamic disease DOID:4664 filamentary keratitis DOID:4665 superficial keratitis without conjunctivitis DOID:4667 kyphosis A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.mayoclinic.com/health/kyphosis/DS00681, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001240.htm] Kyphosis deformity of spine EXACT [] DOID:4668 congenital kyphosis A kyphosis that results_in abnormal formation located_in body of vertebra. [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html, url:http\://www.posna.org/education/StudyGuide/congenitalKyphosis.asp, urlXX:http\://www.wheelessonline.com/ortho/congenital_kyphosis] DOID:467 venous hemangioma Venous hemangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:56468002] DOID:4671 freemartinism DOID:4674 androgen insensitivity syndrome A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. [url:http\://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002163/, url:http\://www.omim.org/entry/300068?search=300068&highlight=300068] testicular Feminization syndrome EXACT [MTH:NOCODE, NCI2004_11_17:C27226] DOID:4675 uremic neuropathy DOID:4676 uremia UREMIA OF renal ORIGIN EXACT [MTH:NOCODE] DOID:4677 keratitis DOID:4678 thymus mucoepidermoid carcinoma Mucoepidermoid carcinoma of the Thymus EXACT [NCI2004_11_17:C6457] DOID:4679 breast mucoepidermoid carcinoma Mucoepidermoid carcinoma of the breast EXACT [NCI2004_11_17:C5166] DOID:468 intramuscular hemangioma Intramuscular hemangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:54249004] DOID:4680 breast metaplastic carcinoma Metaplastic carcinoma of the breast EXACT [NCI2004_11_17:C5164] DOID:4681 bile duct mucoepidermoid carcinoma Mucoepidermoid carcinoma of the bile duct EXACT [NCI2004_11_17:C5862] DOID:4682 extrahepatic bile duct carcinoma extrahepatic bile duct cancer EXACT [NCI2004_11_17:C3860] DOID:4683 cutaneous mucoepidermoid carcinoma Mucoepidermoid skin carcinoma EXACT [NCI2004_11_17:C4472] DOID:4684 skin appendage carcinoma skin appendage carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:64000002] DOID:4685 lacrimal gland mucoepidermoid carcinoma Mucoepidermoid carcinoma of the lacrimal gland EXACT [NCI2004_11_17:C6091] DOID:4686 mucoepidermoid esophageal carcinoma Mucoepidermoid carcinoma of the esophagus EXACT [NCI2004_11_17:C5343] DOID:4687 mucoepidermoid thyroid carcinoma DOID:4688 laryngeal mucoepidermoid carcinoma Mucoepidermoid carcinoma of Larynx EXACT [NCI2004_11_17:C9463] DOID:469 deep angioma DOID:4690 childhood mediastinal neurogenic tumor pediatric neurogenic tumor of mediastinum EXACT [NCI2004_11_17:C5429] DOID:4691 malignant mediastinal neurogenic neoplasm A mediastinal cancer that has_material_basis_in neural cells. [url:http\://www.ncbi.nlm.nih.gov/pubmed/11154721] neurogenic tumor of mediastinum EXACT [NCI2004_11_17:C6624] DOID:4692 endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye. [url:\://www.merck.com/mmhe/sec20/ch234/ch234i.html, url:http\://en.wikipedia.org/wiki/Endophthalmitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis] DOID:4693 nerve plexus neoplasm neural Plexus tumors EXACT [NCI2004_11_17:C5822] DOID:4694 malignant peripheral nerve neoplasm malignant tumor of PNS EXACT [NCI2004_11_17:C4961] DOID:4696 intraneural perineurioma Intraneural Perineurioma EXACT [NCI2004_11_17:C6911] DOID:4697 perineurioma soft tissue perineurioma EXACT [] DOID:4698 nerve root neoplasm tumor of nerve Root EXACT [NCI2004_11_17:C5119] DOID:4699 epicardium cancer malignant neoplasm of epicardium EXACT [] DOID:47 prostate disease DOID:470 verrucous keratotic hemangioma verrucous keratotic hemangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:20985003] DOID:4700 bathing trunk nevus Intermediate and giant congenital naevus EXACT [SNOMEDCT_2005_07_31:10291008] DOID:4702 mongolian spot Mongolian spot (disorder) EXACT [SNOMEDCT_2005_07_31:40467008] DOID:4705 childhood brain tumor pediatric neoplasm of brain EXACT [NCI2004_11_17:C7703] DOID:4706 infratentorial cancer A brain cancer that is located_in the infratentorial region. [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli, url:http\://www.ncbi.nlm.nih.gov/mesh/68015192] malignant Infratentorial tumors EXACT [NCI2004_11_17:C4966] DOID:4707 cervicomedullary junction neoplasm tumor of the Cervicomedullary Junction EXACT [NCI2004_11_17:C5423] DOID:4708 foramen magnum meningioma meningioma of the Foramen Magnum EXACT [NCI2004_11_17:C5280] DOID:471 skin hemangioma hemangioma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:93471006] DOID:4711 krebs 2 carcinoma DOID:4712 gastric mesenchymal neoplasm mesenchymal tumor of stomach EXACT [NCI2004_11_17:C5487] DOID:4714 obstetrical pelvic hematoma postpartum pelvic hematoma EXACT [] DOID:4715 gastric neuroendocrine neoplasm neuroendocrine tumor of the stomach EXACT [NCI2004_11_17:C5696] DOID:4716 malignant gastric germ cell tumor germ cell tumor of the stomach EXACT [NCI2004_11_17:C6448] DOID:4717 extragonadal germ cell cancer A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. [url:http\://tcrc.acor.org/egc.html, url:http\://www.cancer.gov/cancertopics/types/extragonadal-germ-cell] tumor of extragonadal germ cell RELATED [] DOID:4719 bone giant cell sarcoma A malignant giant cell tumor that is composed_of multinucleated giant cells. [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone] Giant cell tumor of bone, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:10069009] DOID:472 subglottic angioma hemangioma of the Subglottis EXACT [NCI2004_11_17:C6026] DOID:4723 intracranial hypotension DOID:4724 brain edema wet brain EXACT [CSP2005:0485-0998] DOID:4725 neck neoplasm neoplasm of neck (disorder) EXACT [SNOMEDCT_2005_07_31:126635000] DOID:4726 Anterior synechiae Anterior synechiae of iris EXACT [ICD9CM_2006:364.72] DOID:4727 adhesions of iris Unspecified adhesions of iris (disorder) EXACT [SNOMEDCT_2005_07_31:193518008] DOID:4730 vasomotor rhinitis A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. [url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis] DOID:4731 atrophic rhinitis A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. [url:http\://en.wikipedia.org/wiki/atrophic_rhinitis, url:http\://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf] Rhinitis, atrophic EXACT [MTHICD9_2006:472.0] DOID:4734 calciphylaxis Calciphylaxis (disorder) EXACT [SNOMEDCT_2005_07_31:237900002] DOID:4737 somatoform disorder A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. [url:http\://allpsych.com/disorders/somatoform/index.html, url:http\://en.wikipedia.org/wiki/Somatoform_disorder] psychosomatic disorder EXACT [CSP2005:2482-7019] DOID:4738 Iris or ciliary body disorder DOID:4739 testicular Brenner tumor DOID:474 histiocytoid hemangioma epithelioid hemangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:33929001] DOID:4742 mixed embryonal carcinoma and teratoma of the testis mixed Embryonal carcinoma and teratoma of testis EXACT [NCI2004_11_17:C6351] DOID:4743 mixed testicular germ cell tumor A mixed germ cell cancer that is located_in the testis. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor] mixed germ cell tumor of testis EXACT [NCI2004_11_17:C6347] DOID:4744 placenta accreta A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. [url:http\://en.wikipedia.org/wiki/Placenta_accreta] DOID:4746 olfaction disorder disorder of smell (disorder) EXACT [SNOMEDCT_2005_07_31:275462005] DOID:4748 childhood supratentorial neoplasm pediatric Supratentorial tumor EXACT [NCI2004_11_17:C5960] DOID:4749 middle cranial fossa meningioma meningioma of the middle Cranial Fossa EXACT [NCI2004_11_17:C5586] DOID:4751 striatonigral degeneration DOID:4752 multiple system atrophy Shy-Drager syndrome EXACT [] DOID:4754 Dictyocaulus infectious disease A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. [url:http\://en.wikipedia.org/wiki/Dictyocaulus] Infection by Dictyocaulus (disorder) EXACT [SNOMEDCT_2005_07_31:28713008] DOID:4756 testicular Leydig cell tumor testicular Leydig cell neoplasm EXACT [NCI2004_11_17:C6356] DOID:4757 sex cord-stromal neoplasm Sex Cord-Stromal tumor of testis EXACT [NCI2004_11_17:C6358] DOID:4758 peripheral anterior synechiae peripheral anterior synechiae (disorder) EXACT [SNOMEDCT_2005_07_31:247034002] DOID:476 breast hemangioma hemangioma of breast EXACT [] DOID:4760 malignant catarrh A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf] Snotsiekte EXACT [] DOID:4762 vasculogenic impotence DOID:4765 pulmonary blastoma An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. [url:http\://www.cancer.gov/dictionary/?CdrID=446557] Blastoma of lung EXACT [NCI2004_11_17:C3732] DOID:4766 embryoma A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. [url:http\://en.wikipedia.org/wiki/Embryoma] Blastoma, NOS EXACT [SNOMEDCT_2005_07_31:86049000] DOID:4767 classic pulmonary blastoma DOID:4768 epithelial predominant pulmonary blastoma DOID:4769 pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity. [url:http\://do-wiki.nubic.northwestern.edu/index.php/Relations_in_DO] Pleuropulmonary blastoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128763002] DOID:4772 mesoblastic nephroma A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. [url:http\://en.wikipedia.org/wiki/Mesoblastic_nephroma] Mesoblastic nephroma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:11793003] DOID:4773 congenital mesoblastic nephroma DOID:4775 feline acquired immunodeficiency syndrome A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. [url:http\://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission, url:http\://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html] DOID:4776 rapidly progressive glomerulonephritis DOID:4777 exudative glomerulonephritis DOID:4778 proliferative glomerulonephritis DOID:4779 focal embolic glomerulonephritis DOID:478 breast vascular neoplasm vascular tumor of breast EXACT [NCI2004_11_17:C5209] DOID:4780 anti-basement membrane glomerulonephritis DOID:4781 diffuse glomerulonephritis DOID:4782 subacute glomerulonephritis DOID:4783 mesangial proliferative glomerulonephritis DOID:4784 immune-complex glomerulonephritis Immune Complex Glomerulonephritis EXACT [NCI2004_11_17:C35800] DOID:4786 primitive neuroectodermal tumor with Leptomeningeal Spread DOID:4787 cerebellopontine angle primitive neuroectodermal Cerebellopontine Angle PNET EXACT [NCI2004_11_17:C5436] DOID:4788 intracranial primitive neuroectodermal tumor intracranial PNET EXACT [NCI2004_11_17:C5817] DOID:479 angiokeratoma skin angiokeratoma EXACT [] DOID:4790 medulloepithelioma Medulloepithelioma, central nervous system EXACT [NCI2004_11_17:C4327] DOID:4791 supratentorial primitive neuroectodermal tumor Supratentorial PNET EXACT [SNOMEDCT_2005_07_31:39781001] DOID:4794 ependymoblastoma DOID:4795 Tay-Sachs disease AB variant Tay-Sachs disease, variant AB (disorder) EXACT [SNOMEDCT_2005_07_31:71253000] DOID:4796 space motion sickness DOID:4797 SM-AHNMD systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:397357000] DOID:4798 aggressive systemic mastocytosis Lymphadenopathic mastocytosis with eosinophilia EXACT [SNOMEDCT_2005_07_31:397008008] DOID:4799 AIDS-related idiopathic thrombocytopenic purpura DOID:48 male reproductive system disease A reproductive system disease that affects male reproductive organs. [url:https\://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/] DOID:480 movement disease DOID:4800 iris vascular disorder DOID:4804 border disease A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. [url:http\://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf] hairy shaker disease EXACT [] DOID:4807 swine vesicular disease An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. [url:http\://en.wikipedia.org/wiki/Swine_vesicular_disease] DOID:4808 Enterovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. [url:http\://www.idph.state.il.us/public/hb/hbentero.htm] DOID:4809 enzootic porcine encephalomyelitis A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf] Teschen disease EXACT [] DOID:481 central nervous system hereditary degenerative disease DOID:4810 cerebrotendinous xanthomatosis A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. [url:http\://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis, url:http\://rarediseasesnetwork.epi.usf.edu/stair/ctx/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1409/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909] Cholestanol storage disease (disorder) EXACT [SNOMEDCT_2005_07_31:63246000] DOID:4812 adult brainstem gliosarcoma adult brain stem Gliosarcoma EXACT [NCI2004_11_17:C9370] DOID:4813 adult brain stem glioma adult Brainstem Neuroglial tumor EXACT [NCI2004_11_17:C9091] DOID:4814 ganglioneuroma of the retroperitoneum Ganglioneuroma of Retroperitoneum EXACT [NCI2004_11_17:C5427] DOID:4816 maturing ganglioneuroma DOID:4817 ganglioneuroma DOID:4818 lung occult non-small cell carcinoma Occult Non-small cell carcinoma of the lung EXACT [NCI2004_11_17:C9038] DOID:4819 lung occult carcinoma Occult carcinoma of the lung EXACT [NCI2004_11_17:C5641] DOID:482 hemangioma of peripheral nerve DOID:4828 metastatic lung carcinoma Unspecified stage IV carcinoma of lung EXACT [NCI2004_11_17:C8774] DOID:4829 adenosquamous cell lung carcinoma Adenosquamous lung carcinoma EXACT [NCI2004_11_17:C9133] DOID:483 cavernous hemangioma Cavernous hemangioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:33377007] DOID:4830 adenosquamous carcinoma A squamous cell carcinoma that contains squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/] mixed adenocarcinoma and squamous carcinoma EXACT [NCI2004_11_17:C3727] DOID:4831 spleen mast cell malignancy Mast cell malignancy of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:188668006] DOID:4832 non small cell lung cancer recurrent recurrent NSCLC EXACT [NCI2004_11_17:C7783] DOID:4833 recurrent lung carcinoma relapsed Unspecified carcinoma of the lung EXACT [NCI2004_11_17:C8953] DOID:4837 Gorham's disease A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. [url:http\://en.wikipedia.org/wiki/Gorham%27s_disease, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease] phantom bone disease EXACT [] DOID:4838 myoepithelial carcinoma A carcinoma that derives_from myoepithelial cells. [url:http\://www.diagnosticpathology.org/content/3/1/7] DOID:4839 sebaceous adenocarcinoma Sebaceous carcinoma EXACT [NCI2004_11_17:C40310] DOID:484 vascular hemostatic disease DOID:4840 sebaceous carcinoma malignant Sebaceous tumor EXACT [NCI2004_11_17:C8409] DOID:4841 malignant tumor of epidermal appendage malignant tumor of epidermal appendage (disorder) EXACT [SNOMEDCT_2005_07_31:255093003] DOID:4843 subependymal glioma WHO grade I Ependymal tumor EXACT [NCI2004_11_17:C3795] DOID:4844 benign ependymoma WHO grade II Ependymal tumor EXACT [NCI2004_11_17:C3017] DOID:4845 pilomyxoid astrocytoma DOID:4846 cauda equina intradural extramedullary astrocytoma Intradural Extramedullary Astrocytic tumor of the Cauda Equina EXACT [NCI2004_11_17:C5408] DOID:4847 cauda equina neoplasm tumor of the Cauda Equina EXACT [NCI2004_11_17:C5479] DOID:4848 cerebellar astrocytoma astrocytoma of Cerebellum EXACT [NCI2004_11_17:C9475] DOID:4850 glioma of visual pathway glioma of the optic tract EXACT [NCI2004_11_17:C8567] DOID:4851 pilocytic astrocytoma An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. [url:http\://en.wikipedia.org/wiki/Pilocytic_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=44341] Piloid astrocytoma EXACT [SNOMEDCT_2005_07_31:253064000] DOID:4852 pleomorphic xanthoastrocytoma Pleomorphic Xantho-astrocytoma EXACT [NCI2004_11_17:C4323] DOID:4853 pilocytic astrocytoma of cerebellum Pilocytic astrocytoma of cerebellum (disorder) EXACT [SNOMEDCT_2005_07_31:277507004] DOID:4855 diencephalic astrocytomas astrocytoma of Diencephalon EXACT [NCI2004_11_17:C5128] DOID:4856 gliofibroma Gliofibroma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128909006] DOID:4857 diffuse astrocytoma WHO grade II astrocytoma EXACT [NCI2004_11_17:C7173] DOID:4858 pineal gland astrocytoma Pineal Astrocytic tumor EXACT [NCI2004_11_17:C8274] DOID:486 glomeruloid hemangioma Glomeruloid hemangioma (disorder) EXACT [SNOMEDCT_2005_07_31:403976007] DOID:4860 brain stem astrocytic neoplasm Brainstem astrocytoma EXACT [NCI2004_11_17:C7445] DOID:4863 spinal cord astrocytoma Spinal astrocytoma EXACT [NCI2004_11_17:C4641] DOID:4864 Rubella virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. [url:http\://www.ictvdb.org/ICTVdB/00.073.0.02.htm] Rubivirus infectious disease EXACT [] DOID:4865 Togaviridae infectious disease A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. [url:http\://en.wikipedia.org/wiki/Togaviridae] DOID:4866 salivary gland adenoid cystic carcinoma A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. [url:http\://www.cigna.com/healthinfo/nord1109.html] Cylindroma NOS EXACT [SNOMEDCT_2005_07_31:189594000] DOID:4867 cervical adenoid cystic carcinoma adenoid cystic carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C6346] DOID:4868 prostate adenoid cystic carcinoma adenoid cystic carcinoma of the prostate EXACT [NCI2004_11_17:C5539] DOID:4869 laryngeal adenoid cystic carcinoma adenoid cystic carcinoma of Larynx EXACT [NCI2004_11_17:C9462] DOID:4870 lacrimal gland adenoid cystic carcinoma adenoid cystic carcinoma of lacrimal gland RELATED [] DOID:4871 cutaneous adenocystic carcinoma adenoid cystic eccrine carcinoma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254711000] DOID:4872 lung adenoid cystic carcinoma pulmonary adenoid cystic carcinoma EXACT [NCI2004_11_17:C5666] DOID:4873 anterior horn cell disease DOID:4875 trachea adenoid cystic carcinoma Tracheal adenoid cystic carcinoma EXACT [NCI2004_11_17:C6051] DOID:4876 trachea carcinoma A tracheal cancer that effects the airway that leads from the larynx to the bronchi. [url:http\://nci.nih.gov/dictionary/?CdrID=46623] carcinoma of the trachea RELATED [] DOID:4877 breast adenoid cystic carcinoma Mammary Adenocystic carcinoma EXACT [NCI2004_11_17:C5130] DOID:4878 esophageal adenoid cystic carcinoma An esophageal carcinoma that derives_from epithelial cells of the salivary gland. [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] adenoid cystic carcinoma, esophagus EXACT [NCI2004_11_17:C5342] DOID:4879 Bartholin's gland adenoid cystic carcinoma Bartholin gland adenoid cystic carcinoma EXACT [] DOID:488 malignant bone vascular tumor osseous vascular tumor EXACT [NCI2004_11_17:C6478] DOID:4880 kidney clear cell sarcoma A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney, url:http\://www.cancer.gov/dictionary?CdrID=44997] renal Clear cell sarcoma EXACT [NCI2004_11_17:C4264] DOID:4882 pediatric soft part clear cell sarcoma DOID:4884 peritoneal neoplasm peritoneum neoplasm EXACT [CSP2005:2005-3788] DOID:4885 Colorado tick fever A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. [url:http\://emedicine.medscape.com/article/786688-overview] Tick fever, American mountain EXACT [MTHICD9_2006:066.1] DOID:4887 Rotavirus infectious disease A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. [url:http\://www.cdc.gov/rotavirus/about/symptoms.html] DOID:4889 lymph node tuberculosis An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] Tuberculous lymphadenopathy EXACT [SNOMEDCT_2005_07_31:10893003] DOID:4890 juvenile myoclonic epilepsy A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. [url:http\://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy, url:http\://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic, url:http\://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo] Janz syndrome NARROW [] DOID:4892 middle ear adenocarcinoma A middle ear carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the middle ear EXACT [NCI2004_11_17:C6848] DOID:4893 middle ear carcinoma A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of the middle ear EXACT [NCI2004_11_17:C6089] DOID:4894 rete ovarii adenocarcinoma DOID:4895 rete ovarii neoplasm DOID:4896 bile duct adenocarcinoma A bile duct carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] DOID:4897 bile duct carcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp] DOID:4898 adenocarcinoma in a polyp adenocarcinoma in adenomatous polyp (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:43233001] DOID:490 hemangioma of lung pulmonary hemangioma EXACT [NCI2004_11_17:C7747] DOID:4900 mixed cell adenocarcinoma mixed cell adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:38958001] DOID:4901 peritoneal serous adenocarcinoma primary peritoneal serous adenocarcinoma EXACT [] DOID:4902 appendix carcinoma An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of appendix EXACT [NCI2004_11_17:C9330] DOID:4903 granular cell carcinoma A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. [url:http\://en.wikipedia.org/wiki/Granular_cell_tumor] granular cell carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:69028005] DOID:4904 intestinal type carcinoma adenocarcinoma, intestinal type (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:25190001] DOID:4905 pancreatic carcinoma A pancreas cancer that derives_from epithelial cells located_in the pancreas. [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.gov/cancertopics/types/pancreatic] Pancreatic carcinoma, familial RELATED [MSH:C535837] DOID:4906 small intestine adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] small intestinal adenocarcinoma EXACT [NCI2004_11_17:C7888] DOID:4907 small intestine carcinoma A small intestine cancer that develops from epithelial cells and is located_in the small intestine. [url:http\://en.wikipedia.org/wiki/Small_intestine_cancer] small intestinal carcinoma EXACT [NCI2004_11_17:C7724] DOID:4908 anal carcinoma A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. [url:http\://en.wikipedia.org/wiki/Anal_cancer] carcinoma of anus EXACT [NCI2004_11_17:C9291] DOID:4910 urethra adenocarcinoma An urethra cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the urethra EXACT [NCI2004_11_17:C6167] DOID:4911 superficial spreading adenocarcinoma Superficial spreading adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:81446001] DOID:4912 disseminated adenocarcinoma Disseminated adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:301036008] DOID:4914 esophagus adenocarcinoma An esophageal carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Oesophageal adenocarcinoma NOS EXACT [NCI2004_11_17:C4025] DOID:4915 basophilic carcinoma Basophil carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:47107000] DOID:4916 pituitary carcinoma carcinoma of the Pituitary gland EXACT [NCI2004_11_17:C4536] DOID:4917 villous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15489649] villous adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:28558000] DOID:4918 renal pelvis adenocarcinoma A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the kidney Pelvis EXACT [NCI2004_11_17:C6143] DOID:4919 renal pelvis carcinoma renal pelvis cancer EXACT [] DOID:492 acquired hemangioma DOID:4920 eccrine adenocarcinoma An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] Eccrine adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128686000] DOID:4921 eccrine sweat gland cancer malignant Eccrine tumor EXACT [NCI2004_11_17:C5559] DOID:4922 breast secretory carcinoma Juvenile Secretory carcinoma of breast EXACT [NCI2004_11_17:C4189] DOID:4923 thymus adenocarcinoma A thymic carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the Thymus EXACT [NCI2004_11_17:C6459] DOID:4924 human papillomavirus related adenocarcinoma A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. [url:http\://www.springerlink.com/content/7652866m7198p524/fulltext.pdf] HPV-Related adenocarcinoma EXACT [NCI2004_11_17:C27684] DOID:4925 human papillomavirus related carcinoma A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. [url:http\://emedicine.medscape.com/article/219110-overview] HPV-Related carcinoma EXACT [NCI2004_11_17:C27674] DOID:4926 bronchiolo-alveolar adenocarcinoma Bronchioloalveolar carcinoma (disorder) EXACT [SNOMEDCT_2005_07_31:373627005] DOID:4927 Klatskin's tumor Perihilar extrahepatic bile duct carcinoma EXACT [NCI2004_11_17:C5859] DOID:4928 intrahepatic cholangiocarcinoma peripheral Cholangiocarcinoma EXACT [NCI2004_11_17:C35417] DOID:4929 tubular adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. [url:http\://onlinelibrary.wiley.com/store/10.1002/dc.2161/asset/2161_ftp.pdf?v=1&t=gpju9amb&s=f4e446d3a3c1e806325be5d11994dc6fb4670edf] tubular carcinoma EXACT [NCI2004_11_17:C3682] DOID:4930 nasal cavity adenocarcinoma A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] adenocarcinoma of the nasal cavity EXACT [NCI2004_11_17:C6015] DOID:4931 nasal cavity carcinoma A nasal cavity cancer that_has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of nasal cavity RELATED [] DOID:4932 ampulla of Vater carcinoma An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] carcinoma of ampulla of vater (disorder) EXACT [SNOMEDCT_2005_07_31:254609000] DOID:4933 apocrine adenocarcinoma An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] carcinoma of the Apocrine gland EXACT [NCI2004_11_17:C5575] DOID:4934 apocrine sweat gland cancer malignant Apocrine tumor EXACT [NCI2004_11_17:C6800] DOID:4935 acidophil carcinoma Eosinophil carcinoma EXACT [NCI2004_11_17:C4147] DOID:4936 mixed eosinophil-basophil carcinoma mixed acidophil-basophil carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:23444003] DOID:4937 oxyphilic adenocarcinoma Hurthle cell adenocarcinoma EXACT [NCI2004_11_17:C3679] DOID:4938 ureter adenocarcinoma An ureter carcinoma that derives_from epithelial cells of glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] ureteral adenocarcinoma EXACT [NCI2004_11_17:C6155] DOID:4939 ureter carcinoma An ureter cancer that is located_in the ureter. [url:http\://www.mayoclinic.org/ureter-cancer/] ureteral carcinoma EXACT [NCI2004_11_17:C8993] DOID:4942 combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:52178006] DOID:4943 adenocarcinoma in situ adenocarcinoma in situ (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:51642000] DOID:4944 gastroesophageal junction adenocarcinoma adenocarcinoma of gastroesophageal junction RELATED [] DOID:4947 cholangiocarcinoma A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. [url:http\://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma, url:http\://en.wikipedia.org/wiki/Cholangiocarcinoma, url:http\://www.cancer.gov/dictionary?CdrID=335064] cholangiosarcoma EXACT [NCI2004_11_17:C4436] DOID:4948 gallbladder carcinoma A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://nci.nih.gov/cancertopics/types/gallbladder/] carcinoma of gallbladder (disorder) EXACT [SNOMEDCT_2005_07_31:372140005] DOID:495 sclerosing hemangioma Sclerosing hemangioma EXACT [MTH:NOCODE] DOID:4952 postpoliomyelitis syndrome A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. [url:http\://en.wikipedia.org/wiki/Postpolio_syndrome, url:http\://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms] Postpolio syndrome EXACT [SNOMEDCT_2005_07_31:367094007] DOID:4953 poliomyelitis A viral infectious disease that results_in destruction located_in motor neurons, 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 fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. [url:http\://en.wikipedia.org/wiki/Poliomyelitis, url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] DOID:4955 central nervous system melanocytic neoplasm primary melanocytic Lesions of the CNS RELATED [NCI2004_11_17:C4661] DOID:4956 leptomeningeal neoplasm tumor of leptomeninges EXACT [NCI2004_11_17:C4958] DOID:4957 meninges hemangiopericytoma Meningeal hemangiopericytoma EXACT [NCI2004_11_17:C4660] DOID:4958 central nervous system hemangiopericytoma A hemangiopericytoma which is manifested in the central nervous system. [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:http\://www.ncbi.nlm.nih.gov/pubmed/1985083] DOID:4959 epidermolysis bullosa dystrophica Dystrophic epidermolysis bullosa (disorder) EXACT [SNOMEDCT_2005_07_31:254185007] DOID:496 spindle cell hemangioma spindle cell hemangioma (disorder) EXACT [SNOMEDCT_2005_07_31:403967000] DOID:4960 bone marrow cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. [url:http\://nci.nih.gov/dictionary/?CdrID=430857] primary malignant neoplasm of bone marrow (disorder) EXACT [SNOMEDCT_2005_07_31:93720005] DOID:4961 bone marrow disease bone marrow disorder EXACT [CSP2005:0427-3773] DOID:4962 pericardial tuberculosis An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] tuberculous pericarditis EXACT [] DOID:4964 neurotic disorder An anxiety disorder that involves discress but neither delusions nor hallucinations. [url:http\://en.wikipedia.org/wiki/Neurosis] reactive depression EXACT [] DOID:4966 adrenocortical hyperplasia Adrenocortical hyperplasia (disorder) EXACT [SNOMEDCT_2005_07_31:237777008] DOID:4967 adrenal hyperplasia Adrenal hypertrophy or hyperplasia (disorder) EXACT [SNOMEDCT_2005_07_31:237775000] DOID:4968 Nelson syndrome Nelson's syndrome EXACT [SNOMEDCT_2005_07_31:190503006] DOID:4969 Gerstmann syndrome A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. [url:http\://en.wikipedia.org/wiki/Gerstmann_syndrome, url:http\://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm] Aphasia-angular gyrus syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:36785009] DOID:4970 prosopagnosia An agnosia that results in the loss of the ability to consciously recognize familiar faces. [url:http\://en.wikipedia.org/wiki/Agnosia] DOID:4971 myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. [url:http\://en.wikipedia.org/wiki/Myelofibrosis] primary myelofibrosis EXACT [] DOID:4972 myelodysplastic myeloproliferative cancer A bone marrow cancer that results_in the overproduction of white blood cells. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient/print] Myeloproliferative/Myelodysplastic syndromes EXACT [NCI2004_11_17:C27262] DOID:4974 actinobacillosis A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/50100.htm, url:http\://www.sciencedirect.com/science/article/pii/073646799500066J, url:www.jrheum.com/subscribers/04/08/tables/PDF/1663.pdf] Actinobacillosis, NOS EXACT [SNOMEDCT_2005_07_31:16140007] DOID:4975 Actinobacillus infectious disease Actinobacillus infection (disorder) EXACT [SNOMEDCT_2005_07_31:16140007] DOID:4976 elephantiasis Elephantiasis NOS EXACT [MTHICD9_2006:457.1] DOID:4977 lymphedema Lymphoedema NOS EXACT [SNOMEDCT_2005_07_31:266334008] DOID:4978 Ewing's family recurrent tumor recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor EXACT [NCI2004_11_17:C27898] DOID:4979 recurrent primitive neuroectodermal tumor DOID:4982 metastatic Ewing's sarcoma Ewing's sarcoma, metastatic EXACT [NCI2004_11_17:C7807] DOID:4983 metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraosseous Ewing's tumor EXACT [NCI2004_11_17:C7135] DOID:4986 nonparalytic poliomyelitis A poliomyelitis that results_in destruction located_in motor neurons, 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 fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. [url:http\://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] non-paralytic aseptic meningitis EXACT [] DOID:4987 recurrent Ewing's sarcoma relapsed Ewing's sarcoma EXACT [NCI2004_11_17:C7808] DOID:4988 alcoholic pancreatitis DOID:4989 pancreatitis DOID:4990 essential tremor A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. [url:http\://en.wikipedia.org/wiki/Essential_tremor, url:http\://ghr.nlm.nih.gov/condition/essential-tremor] shaky hand syndrome EXACT [] DOID:4991 optic nerve astrocytoma optic tract astrocytoma EXACT [] DOID:4992 optic nerve glioma glioma of the optic nerve EXACT [NCI2004_11_17:C4537] DOID:4993 atypical polypoid adenomyoma Atypical polypoid adenomyoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:388987001] DOID:4994 adenomyoma of uterine corpus adenomyoma of Corpus Uteri EXACT [NCI2004_11_17:C6338] DOID:4995 cervical adenomyoma DOID:4997 Camurati-Engelmann disease An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. [url:http\://en.wikipedia.org/wiki/Camurati-Engelmann_disease, url:http\://ghr.nlm.nih.gov/condition/camurati-engelmann-disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK1156/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease] progressive diaphyseal dysplasia EXACT [] DOID:4998 trichorhinophalangeal syndrome type II An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/condition/langer-giedion-syndrome, url:http\://www.healthline.com/galecontent/langer-giedion-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract] Trichorhinophalangeal dysplasia type II EXACT [SNOMEDCT_2005_07_31:239017000] DOID:4999 syphilitic alopecia Syphilitic alopecia (disorder) EXACT [SNOMEDCT_2005_07_31:59307008] DOID:50 thyroid gland disease An endocrine system disease that is located_in the thyroid. [url:http\://en.wikipedia.org/wiki/Thyroid] DOID:5000 cutaneous syphilis Syphilitic skin disorder EXACT [SNOMEDCT_2005_07_31:371237000] DOID:5002 equine infectious anemia A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. [url:http\://en.wikipedia.org/wiki/Equine_infectious_anemia] Fever, swamp EXACT [MTHICD9_2006:100.89] DOID:5003 eunuchism A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. [url:http\://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058] Eunuchism (disorder) EXACT [SNOMEDCT_2005_07_31:267403002] DOID:5006 adult primary liver cancer adult primary cancer of the Liver EXACT [NCI2004_11_17:C7711] DOID:5007 resectable hepatocellular carcinoma Resectable Hepatoma EXACT [NCI2004_11_17:C7691] DOID:501 central nervous system hemangioma hemangioma of CNS EXACT [NCI2004_11_17:C7004] DOID:5015 hepatocellular fibrolamellar carcinoma Oncocytic Hepatocellular tumor EXACT [NCI2004_11_17:C4131] DOID:5016 hepatocellular clear cell carcinoma Clear cell carcinoma of the Liver cells EXACT [NCI2004_11_17:C5754] DOID:5017 hepatitis virus related hepatocellular carcinoma DOID:5019 non-resectable hepatocellular carcinoma DOID:502 central nervous system mesenchymal non-meningothelial tumor Non-meningothelial mesenchymal tumor EXACT [NCI2004_11_17:C6972] DOID:5022 aflatoxins-related hepatocellular carcinoma DOID:5026 sclerosing hepatic carcinoma Sclerosing Hepatocellular carcinoma EXACT [NCI2004_11_17:C27388] DOID:5027 recurrent hepatocellular carcinoma relapsed Hepatoma EXACT [NCI2004_11_17:C9264] DOID:5028 recurrent cancer of Liver relapsed cancer of the Liver EXACT [NCI2004_11_17:C7110] DOID:5029 Alphavirus infectious disease A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. [url:http\://en.wikipedia.org/wiki/Alphavirus] DOID:5030 pineal parenchymal tumor of intermediate differentiation Pineal parenchymal tumour of intermediate differentiation EXACT [SNOMEDCT_2005_07_31:31671006] DOID:5031 adult pineal parenchymal tumor adult Pineal Parenchymal neoplasm EXACT [NCI2004_11_17:C8273] DOID:5032 pineal gland cancer An endocrine gland located_in the pineal gland located in the brain. [url:http\://en.wikipedia.org/wiki/Pineal_gland] tumor of the pineal region EXACT [] DOID:5039 myoblastoma benign granular cell tumor EXACT [NCI2004_11_17:C3252] DOID:5040 malignant granular cell esophageal tumor granular cell tumor of esophagus EXACT [NCI2004_11_17:C5700] DOID:5041 esophageal cancer A gastrointestinal system cancer that is located_in the esophagus. [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Esophagus] malignant tumor of the middle Third of the esophagus EXACT [NCI2004_11_17:C3534] DOID:5042 malignant granular cell myoblastoma malignant granular cell tumor (disorder) EXACT [SNOMEDCT_2005_07_31:404041003] DOID:5043 vulvar granular cell tumor DOID:5044 cardiac granular cell neoplasm granular cell tumor of Heart EXACT [NCI2004_11_17:C5360] DOID:5046 mediastinal granular cell myoblastoma granular cell tumor of mediastinum EXACT [NCI2004_11_17:C6601] DOID:5047 neurohypophysis granular cell tumor DOID:5048 posterior pituitary gland neoplasm Posterior Pituitary tumor EXACT [NCI2004_11_17:C7157] DOID:505 hobnail hemangioma DOID:5050 ehrlich tumor carcinoma Ehrlich's tumor EXACT [CSP2005:2000-2080] DOID:5052 melioidosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. [url:http\://www.cdc.gov/melioidosis/symptoms/index.html] Whitmore's disease EXACT [] DOID:5053 primary Burkholderia infectious disease DOID:5055 neuronal and mixed neuronal-glial tumor of cerebellum DOID:5056 adult cerebellar neoplasm tumor of adult Cerebellum EXACT [NCI2004_11_17:C5968] DOID:5057 papillary meningioma of the cerebellum Papillary meningioma of Cerebellum EXACT [NCI2004_11_17:C5270] DOID:5058 rhabdoid meningioma Rhabdoid meningioma EXACT [NCI2004_11_17:C6909] DOID:5059 childhood cerebellar neoplasm pediatric tumor of Cerebellum EXACT [NCI2004_11_17:C5970] DOID:5062 phencyclidine abuse A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. [url:http\://en.wikipedia.org/wiki/Phencyclidine] Phencyclidine abuse EXACT [MTHICD9_2006:305.9] DOID:5063 basosquamous carcinoma Metatypical carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:6641007] DOID:5069 uterine corpus soft tissue neoplasm DOID:507 adjustment disorder A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. [url:http\://en.wikipedia.org/wiki/Adjustment_disorder, url:http\://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000932.htm] adjustment reaction EXACT [] DOID:5070 neoplasm of body of uterus tumor of Corpus Uteri EXACT [NCI2004_11_17:C6300] DOID:5071 central nervous system soft tissue neoplasm soft tissue tumor of the CNS EXACT [NCI2004_11_17:C5449] DOID:5072 meninges gliomatosis Gliomatosis of the meninges EXACT [NCI2004_11_17:C5446] DOID:5073 malignant neoplasm of meninges malignant tumor of meninges (disorder) EXACT [SNOMEDCT_2005_07_31:363497007] DOID:5074 malignant ependymoma A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. [url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors] ependymal tumors EXACT [] DOID:5075 myxopapillary ependymoma Myxopapillary ependymoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:1623000] DOID:5076 mixed glioma mixed Neuroglial tumor EXACT [NCI2004_11_17:C3903] DOID:5077 subependymal giant cell astrocytoma Subependymal giant cell astrocytoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:1586004] DOID:5078 ganglioglioma A cell type benign neoplasm that has_material_basis_in glial-type cells. [url:http\://en.wikipedia.org/wiki/Ganglioglioma, url:http\://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD] CNS ganglioglioma EXACT [] DOID:5082 liver cirrhosis cirrhosis of liver EXACT [] DOID:5083 iodine hypothyroidism Iodine hypothyroidism (disorder) EXACT [SNOMEDCT_2005_07_31:190279008] DOID:5085 transmissible gastroenteritis of swine A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. [url:http\://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm] DOID:5086 transmissible enteritis of turkeys A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. [url:http\://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg] mud fever EXACT [] DOID:5087 feline infectious peritonitis A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. [url:http\://www.vet.cornell.edu/fhc/brochures/fip.html] DOID:5088 mixed epithelial stromal tumour DOID:5090 sternum cancer A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. [url:http\://www.cancer.gov/dictionary/?CdrID=482347] Sternal tumor EXACT [NCI2004_11_17:C6730] DOID:5093 thoracic cancer An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. [url:http\://www.advocatehealth.com/cmc/body.cfm?id=203] tumor of thorax (disorder) EXACT [SNOMEDCT_2005_07_31:255058005] DOID:5097 axillary cancer neoplasm of axilla (disorder) EXACT [SNOMEDCT_2005_07_31:126639006] DOID:5099 middle ear cancer An auditory system cancer that is located_in the middle ear. [url:http\://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors] tumor of the middle ear EXACT [NCI2004_11_17:C4412] DOID:5100 middle ear disease DOID:5101 auricular cancer malignant tumor of ear EXACT [NCI2004_11_17:C9337] DOID:5102 inner ear cancer DOID:5104 testicular infarct testicular infarction EXACT [NCI2004_11_17:C27617] DOID:5107 achromic nevus Nonpigmented nevus (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:112680001] DOID:5112 swayback Swayback of sheep (disorder) EXACT [SNOMEDCT_2005_07_31:78714004] DOID:5113 nutritional deficiency disease DOID:5115 bovine virus diarrhea-mucosal disease A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. [url:http\://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf] DOID:5116 central nervous system dermoid cyst Dermoid Cyst of the CNS EXACT [NCI2004_11_17:C5508] DOID:5117 dermoid cyst of ovary Ovarian Dermoid Cyst EXACT [NCI2004_11_17:C3856] DOID:5118 ovarian cystic teratoma DOID:5119 ovarian cyst DOID:512 epididymal neoplasm neoplasm of epididymis (disorder) EXACT [SNOMEDCT_2005_07_31:126902008] DOID:5120 Roseolovirus infectious disease A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. [url:http\://en.wikipedia.org/wiki/Roseolovirus] DOID:5123 mediastinum leiomyoma leiomyoma of mediastinum EXACT [NCI2004_11_17:C6598] DOID:5124 fallopian tube leiomyoma DOID:5125 extrahepatic bile duct leiomyoma leiomyoma of the extrahepatic bile duct EXACT [NCI2004_11_17:C5855] DOID:5126 central nervous system leiomyoma leiomyoma of CNS EXACT [NCI2004_11_17:C6998] DOID:5127 bizarre leiomyoma Symplastic leiomyoma EXACT [SNOMEDCT_2005_07_31:48897006] DOID:5128 deep leiomyoma DOID:5129 simple partial epilepsy DOID:5132 leiomyoma cutis leiomyoma of the skin EXACT [NCI2004_11_17:C4482] DOID:5133 skin tumor of smooth muscle origin Smooth Muscle skin neoplasm EXACT [NCI2004_11_17:C4480] DOID:5134 anus leiomyoma leiomyoma of anus EXACT [NCI2004_11_17:C5608] DOID:5136 lung leiomyoma pulmonary leiomyoma EXACT [NCI2004_11_17:C5660] DOID:5137 pericardium leiomyoma leiomyoma of Pericardium EXACT [NCI2004_11_17:C6743] DOID:5138 leiomyomatosis leiomyomatosis, no ICD-O subtype (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:75210008] DOID:5139 cellular leiomyoma cellular leiomyoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:90955001] DOID:5140 gallbladder leiomyoma leiomyoma of the gallbladder EXACT [NCI2004_11_17:C5747] DOID:5142 vulvar leiomyoma DOID:5143 large bowel leiomyoma leiomyoma of large Intestine EXACT [NCI2004_11_17:C5677] DOID:5146 appendix leiomyoma Appendiceal leiomyoma EXACT [NCI2004_11_17:C5514] DOID:5147 dartoic leiomyoma Dartoic myoma (disorder) EXACT [SNOMEDCT_2005_07_31:254770007] DOID:5149 epithelioid neurofibroma epithelioid neurofibroma (disorder) EXACT [SNOMEDCT_2005_07_31:404032008] DOID:5150 neurofibroma of gallbladder Neurofibroma of the gallbladder EXACT [NCI2004_11_17:C5746] DOID:5151 plexiform neurofibroma DOID:5152 cellular neurofibroma DOID:5153 atypical neurofibroma DOID:5154 borna disease A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. [url:http\://www.biomedcentral.com/1471-244X/10/70] Enzootic encephalomyelitis EXACT [SNOMEDCT_2005_07_31:76851008] DOID:5155 multiple mucosal neuroma DOID:5157 benign pleural mesothelioma Mesothelioma of Pleura EXACT [NCI2004_11_17:C9351] DOID:5158 pleural cancer A connective tissue cancer that located_in the pleura. [url:http\://en.wikipedia.org/wiki/Pleural_cavity] Pleural tumor EXACT [NCI2004_11_17:C3332] DOID:5160 arteriosclerosis obliterans Arteriosclerosis obliterans (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:60625000] DOID:5161 Monckeberg arteriosclerosis DOID:5162 arteriolosclerosis Arteriolosclerosis (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:17941002] DOID:5165 uterine corpus sarcoma An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient] sarcoma of uterus (disorder) EXACT [SNOMEDCT_2005_07_31:254877001] DOID:5166 endometrial stromal tumor endometrial stromal tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:68738004] DOID:5169 ovarian endometrioid stromal sarcoma DOID:5170 vaginal endometrial stromal sarcoma DOID:5171 vaginal endometrial stromal tumor DOID:5172 endometrium carcinoma in situ endometrial carcinoma in situ EXACT [NCI2004_11_17:C9071] DOID:5176 renal Wilms' tumor nonanaplastic renal wilms tumor RELATED [] DOID:5178 metachronous kidney Wilms' tumor metachronous Wilms tumor of the kidney RELATED [] DOID:5179 mixed cell type kidney Wilms' tumor mixed cell type renal Wilms tumor EXACT [NCI2004_11_17:C9149] DOID:518 scrotum neoplasm scrotum cancer EXACT [] DOID:5182 blastema predominant kidney Wilms' tumor Blastema Predominant renal Wilms tumor EXACT [NCI2004_11_17:C9147] DOID:5183 hereditary Wilms' tumor A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. [url:http\://www.cancerindex.org/geneweb/X210202.htm] WT1 EXACT [] DOID:5184 recurrent nephroblastoma A nephroblastoma that recurs over time. [url:https\://health.google.com/health/ref/Wilms+tumor] relapsed renal Wilms' tumor EXACT [NCI2004_11_17:C7845] DOID:5185 anaplastic renal Wilms' tumor A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp] anaplastic renal Wilms tumor RELATED [] DOID:5189 epithelial predominant Wilms' tumor epithelial Predominant renal Wilms tumor EXACT [NCI2004_11_17:C9146] DOID:519 aortitis Aortitis NOS EXACT [MTHICD9_2006:447.6] DOID:5190 cervical Wilms' tumor A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. [url:http\://www.ncbi.nlm.nih.gov/pubmed/10620450] cervical Wilms tumor RELATED [] DOID:5191 stromal predominant kidney Wilms' tumor Stromal Predominant renal Wilms tumor EXACT [NCI2004_11_17:C9148] DOID:5193 nodular ganglioneuroblastoma DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma DOID:5195 peripheral nervous system ganglioneuroblastoma PNS Ganglioneuroblastoma EXACT [NCI2004_11_17:C6594] DOID:5196 fallopian tube adenomatoid tumor DOID:5199 ureteral obstruction DOID:520 aortic disease An artery disease that is characterized by degeneration of the cells composing the aortic wall. [url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html, url:https\://www.cedars-sinai.edu/Patients/Programs-and-Services/Heart-Institute/Conditions/Aortic-Disease.aspx#3] disorder of the aorta (disorder) EXACT [SNOMEDCT_2005_07_31:47040006] DOID:5200 urinary tract obstruction urinary obstruction EXACT [ICD9CM_2006:599.6] DOID:5204 fructose-1,6-bisphosphatase deficiency A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. [url:http\://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency, url:http\://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency, url:http\://omim.org/entry/229700] fructose-1,6-diphosphatase deficiency EXACT [] DOID:5205 inborn errors fructose metabolism DOID:5207 monodermal teratoma Ovarian Monodermal teratoma EXACT [NCI2004_11_17:C7286] DOID:5208 malignant struma ovarii Struma ovarii, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:18854008] DOID:5209 benign struma ovarii DOID:5212 congenital disorder of glycosylation A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation] carbohydrate-deficient glycoprotein syndrome EXACT [] DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy chronic inflammatory demyelinating polyradiculoneuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:128209004] DOID:5214 demyelinating polyneuropathy peripheral demyelinating neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:23414001] DOID:5215 ephemeral fever A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. [url:http\://en.wikipedia.org/wiki/Bovine_ephemeral_fever, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf] Three-Day Stiffsickness EXACT [] DOID:5221 chronic polyneuropathy DOID:5222 acute necrotizing encephalitis acute necrotizing encephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:111897007] DOID:5223 infertility DOID:5224 acute hemorrhagic encephalitis DOID:5225 von Economo's disease von Economo disease EXACT [] DOID:5226 vaginal blue nevus DOID:5227 cellular blue nevus cellular Blue nevus of the skin EXACT [NCI2004_11_17:C4241] DOID:5228 common blue nevus Common blue nevus of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254807000] DOID:5230 hepatoerythropoietic porphyria DOID:5231 peritoneal and retroperitoneal tumors DOID:5232 aortic valve prolapse DOID:5233 glomangiosarcoma malignant Glomus neoplasm EXACT [NCI2004_11_17:C4221] DOID:5236 subungual glomus tumor Subungual Glomus tumor EXACT [NCI2004_11_17:C36079] DOID:5238 benign perivascular tumor DOID:5239 glomus tumor of uncertain malignant potential DOID:524 central nervous system AIDS arteritis A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. [url:http\://jnnp.bmj.com/content/80/8/831.long] DOID:5240 retinal hemangioblastoma DOID:5241 hemangioblastoma Capillary Hemangioblastoma EXACT [NCI2004_11_17:C3801] DOID:5242 resectable cholangiocellular carcinoma DOID:5244 visual alteration DOID:5245 recurrent cholangiocellular carcinoma DOID:5246 hilar cholangiocellular carcinoma DOID:5247 liver fluke-related cholangiocarcinoma Opisthorchis Viverrini-Related Cholangiocellular carcinoma EXACT [NCI2004_11_17:C27769] DOID:5248 parasite-related carcinoma DOID:525 central nervous system vasculitis DOID:5250 non-resectable cholangiocellular carcinoma DOID:5251 inflammatory leiomyosarcoma DOID:5252 leiomyosarcoma recurrent relapsed leiomyosarcoma EXACT [NCI2004_11_17:C8815] DOID:5253 conventional leiomyosarcoma DOID:5254 central nervous system leiomyosarcoma leiomyosarcoma of the CNS EXACT [NCI2004_11_17:C6999] DOID:5255 leiomyosarcoma nonmetastatic Non-metastatic leiomyosarcoma EXACT [NCI2004_11_17:C8814] DOID:5258 granular cell leiomyosarcoma DOID:5259 colon leiomyosarcoma A leiomyosarcoma and sarcoma of colon that is located_in the colon. [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm] Colonic leiomyosarcoma EXACT [NCI2004_11_17:C5494] DOID:526 Human immunodeficiency virus infectious disease A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. [url:http\://en.wikipedia.org/wiki/HIV, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000602.htm] HIV infection EXACT [CSP2005:1560-6305] DOID:5260 colon sarcoma A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. [url:http\://www3.interscience.wiley.com/journal/76043/abstract] Colonic sarcoma EXACT [NCI2004_11_17:C5495] DOID:5261 heart leiomyosarcoma leiomyosarcoma of Heart EXACT [NCI2004_11_17:C5364] DOID:5262 heart sarcoma A sarcoma and malignant neoplasm of heart that is located_in the heart. [url:http\://www.urmc.rochester.edu/encyclopedia/content.cfm?pageid=P06597] sarcoma of Heart EXACT [NCI2004_11_17:C7723] DOID:5263 ovary leiomyosarcoma leiomyosarcoma of Ovary EXACT [NCI2004_11_17:C5234] DOID:5264 epithelioid leiomyosarcoma DOID:5265 lung leiomyosarcoma A leiomyosarcoma and sarcoma of lung that is located_in the lung. [url:www.chestjournal.org/cgi/reprint/56/5/452.pdf] pulmonary leiomyosarcoma EXACT [NCI2004_11_17:C5667] DOID:5266 leiomyosarcoma metastatic DOID:5267 anus leiomyosarcoma A leiomyosarcoma and sarcoma of the anus that is located_in the anus. [url:http\://www.springerlink.com/content/t57853114066u8n8/] leiomyosarcoma of anus EXACT [NCI2004_11_17:C5599] DOID:5268 myxoid leiomyosarcoma Myxoid leiomyosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:16090008] DOID:5271 small intestine leiomyosarcoma A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma] smooth muscle connective tissue tumor RELATED [] DOID:5272 small intestinal sarcoma A sarcoma and malignant tumor of small intestine that is located_in the small intestine. [url:http\://www.cancer.gov/cancertopics/types/smallintestine] sarcoma of the Small Intestine EXACT [NCI2004_11_17:C5335] DOID:5273 cutaneous leiomyosarcoma leiomyosarcoma of the skin EXACT [NCI2004_11_17:C4484] DOID:5274 malignant dermis tumor malignant tumor of dermis (disorder) EXACT [SNOMEDCT_2005_07_31:255096006] DOID:5275 gallbladder leiomyosarcoma A gallbladder sarcoma that is located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma, url:http\://www.ncbi.nlm.nih.gov/pubmed/2278917] leiomyosarcoma of the gallbladder EXACT [NCI2004_11_17:C5841] DOID:5276 esophagus leiomyosarcoma leiomyosarcoma of esophagus EXACT [NCI2004_11_17:C5334] DOID:5278 pediatric leiomyosarcoma DOID:528 hydrarthrosis DOID:5280 gastric leiomyosarcoma DOID:5281 malignant mesenchymal neoplasm of the stomach malignant mesenchymal neoplasm of stomach EXACT [NCI2004_11_17:C27439] DOID:5282 prostate leiomyosarcoma A prostate sarcoma that is located_in the prostate. [url:http\://www3.interscience.wiley.com/journal/112677325/abstract] leiomyosarcoma of the prostate EXACT [NCI2004_11_17:C5526] DOID:5283 vagina leiomyosarcoma leiomyosarcoma of the vagina EXACT [NCI2004_11_17:C6326] DOID:5284 retroperitoneal leiomyosarcoma DOID:5285 breast leiomyosarcoma leiomyosarcoma of the breast EXACT [NCI2004_11_17:C5186] DOID:5286 vulvar leiomyosarcoma DOID:5287 kidney leiomyosarcoma A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. [url:http\://www.sage-hindawi.com/journals/pri/2010/652398.html] leiomyosarcoma of kidney EXACT [NCI2004_11_17:C6183] DOID:5288 larynx leiomyosarcoma A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx. [url:http\://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/] leiomyosarcoma of Larynx EXACT [NCI2004_11_17:C6022] DOID:5289 uterus leiomyosarcoma A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma] leiomyosarcoma of Corpus Uteri EXACT [NCI2004_11_17:C6340] DOID:529 blepharospasm A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] Blepharospasm (disorder) EXACT [SNOMEDCT_2005_07_31:59026006] DOID:5290 uterine corpus smooth muscle neoplasm DOID:5291 adult leiomyosarcoma DOID:5292 mediastinum leiomyosarcoma A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. [url:http\://ejcts.ctsnetjournals.org/cgi/content/full/21/5/943] leiomyosarcoma of mediastinum EXACT [NCI2004_11_17:C6619] DOID:5293 extrahepatic bile duct leiomyosarcoma A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. [url:http\://www.cancer.gov/dictionary/?CdrID=44498, url:http\://www.cancer.gov/dictionary/?CdrID=46027] leiomyosarcoma of the bile duct EXACT [NCI2004_11_17:C5848] DOID:5294 vessel leiomyosarcoma leiomyosarcoma of Vessels EXACT [NCI2004_11_17:C5387] DOID:5295 intestinal disease A gastrointestinal system disease that is located_in the intestine. [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] DOID:5296 liver leiomyosarcoma A leiomyosarcoma and sarcoma of liver that is located_in the liver. [url:http\://www.cancer.gov/dictionary/?CdrID=46027] leiomyosarcoma of the Liver EXACT [NCI2004_11_17:C5756] DOID:5297 rectum leiomyosarcoma A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm] leiomyosarcoma of rectum EXACT [NCI2004_11_17:C5549] DOID:5299 endometrial clear cell adenocarcinoma Clear cell carcinoma of Endometrium EXACT [NCI2004_11_17:C8028] DOID:53 pituitary gland disease An endocrine system disease that is located_in the pituitary gland. [url:http\://en.wikipedia.org/wiki/Pituitary_disease] pituitary disease EXACT [] DOID:530 eyelid disease An adnexa disease that is located_in the eyelid. [url:http\://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit] DOID:5301 fallopian tube clear cell adenocarcinoma Clear cell carcinoma of the fallopian tube EXACT [NCI2004_11_17:C6280] DOID:5302 uterine ligament clear cell adenocarcinoma DOID:5303 cervical clear cell adenocarcinoma Clear cell carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C6344] DOID:5304 ovarian clear cell adenocarcinoma DOID:5305 malignant ovarian clear cell neoplasm DOID:5306 bladder clear cell adenocarcinoma clear cell adenocarcinoma of bladder RELATED [] DOID:5307 urethra clear cell adenocarcinoma Clear cell adenocarcinoma of the urethra EXACT [NCI2004_11_17:C6172] DOID:5308 ampulla of Vater clear cell adenocarcinoma DOID:5309 epithelial-myoepithelial carcinoma DOID:5310 glycogen-rich clear cell breast carcinoma Glycogen-rich carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:74280008] DOID:5312 miscellaneous mesenchymal neoplasm DOID:5313 vulvar alveolar soft part sarcoma An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. [url:http\://www.ncbi.nlm.nih.gov/pubmed/7060986] DOID:5314 alveolar soft part sarcoma recurrent An alveolar soft part sarcoma that recurs over time. [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] relapsed Alveolar soft Part sarcoma EXACT [NCI2004_11_17:C8798] DOID:5316 alveolar soft part sarcoma nonmetastatic An alveolar soft part sarcoma that has not spread to other parts of the body. [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] Non-metastatic Alveolar soft Part sarcoma EXACT [NCI2004_11_17:C8797] DOID:5317 alveolar soft part sarcoma metastatic An alveolar soft part sarcoma that has spread to other parts of the body. [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] DOID:5323 fallopian tube serous tumor DOID:5324 fallopian tube germ cell cancer fallopian tube germ cell neoplasm RELATED [] DOID:5325 Roberts syndrome LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE EXACT [] DOID:5326 Partial recent retinal detachment with single defect Recent retinal detachment, partial, with single defect EXACT [ICD9CM_2006:361.01] DOID:5327 retinal detachment DOID:5328 retinal detachment and defect Unspecified retinal detachment with retinal defect (disorder) EXACT [SNOMEDCT_2005_07_31:193318009] DOID:533 thymus gland disease disease of thymus gland EXACT [] DOID:5330 dental pulp disease pulp disorder EXACT [CSP2005:0834-4423] DOID:5331 testicular granulosa cell tumor Granulosa cell tumor of testis EXACT [NCI2004_11_17:C6357] DOID:5334 paraphimosis DOID:5335 renal neoplasm with t(6;11)(p21;q12) DOID:5337 epulis polyp of Gum EXACT [NCI2004_11_17:C3948] DOID:5338 gingival hypertrophy hypertrophy of gingivae EXACT [SNOMEDCT_2005_07_31:54711002] DOID:5339 cyclic hematopoiesis Neutropenia, periodic EXACT [MTHICD9_2006:288.0] DOID:534 persistent disorder of initiating or maintaining wakefulness DOID:5340 anterograde amnesia An amnestic disorder that involves the impaired or lost ability to memorize new things. [url:http\://en.wikipedia.org/wiki/Amnesia] DOID:5341 pineal region yolk sac tumor Pineal Region Yolk Sac neoplasm EXACT [NCI2004_11_17:C6752] DOID:5342 childhood endodermal sinus tumor An endodermal sinus tumor that occurs in children. [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] pediatric Yolk Sac tumor EXACT [NCI2004_11_17:C27364] DOID:5343 central nervous system endodermal sinus tumor Yolk Sac tumor of the CNS EXACT [NCI2004_11_17:C7011] DOID:5344 testicular yolk sac tumor testicular Yolk Sac neoplasm EXACT [NCI2004_11_17:C8000] DOID:5345 testicular non-seminomatous germ cell cancer malignant Non-Seminomatous germ cell tumor of testis EXACT [NCI2004_11_17:C5027] DOID:5346 mediastinal endodermal sinus tumor Yolk Sac tumor of mediastinum EXACT [NCI2004_11_17:C6443] DOID:5347 mediastinal non-seminomatous germ cell cancer Non-Seminomatous malignant germ cell tumor of mediastinum EXACT [NCI2004_11_17:C6439] DOID:5348 adult endodermal sinus tumor An endodermal sinus tumor that occurs in adults. [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] adult Yolk Sac neoplasm EXACT [NCI2004_11_17:C27241] DOID:5349 central nervous system adult germ cell tumor germ cell tumor of the adult CNS EXACT [NCI2004_11_17:C6285] DOID:535 sleep disorder A disease of mental health that involves disruption of sleep patterns. [url:http\://en.wikipedia.org/wiki/Sleep_disorder] Non-organic sleep disorder EXACT [SNOMEDCT_2005_07_31:192453005] DOID:5350 ovarian endodermal sinus tumor Ovarian Yolk Sac tumor EXACT [NCI2004_11_17:C8107] DOID:5351 ovarian primitive germ cell tumor DOID:5353 colonic disease colon disorder EXACT [CSP2005:1248-3971] DOID:5354 lung PAP-AD DOID:5355 mucinous bronchioloalveolar lung carcinoma mucinous Bronchoalveolar lung carcinoma EXACT [NCI2004_11_17:C7268] DOID:5358 non-mucinous bronchioloalveolar lung carcinoma Non-mucinous Bronchoalveolar lung carcinoma EXACT [NCI2004_11_17:C7269] DOID:5359 pure BAC DOID:536 persistent disorder of initiating or maintaining sleep DOID:5360 AD-BAC DOID:5361 mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma EXACT [NCI2004_11_17:C7270] DOID:5362 focal epithelial hyperplasia A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. [url:http\://www.ams.ac.ir/aim/010131/0012.pdf] Multifocal epithelial hyperplasia EXACT [SNOMEDCT_2005_07_31:6121001] DOID:5363 myxoid liposarcoma Myxoid liposarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:27849002] DOID:5364 pulmonary coin lesion Coin lesion of lung (finding) EXACT [SNOMEDCT_2005_07_31:308689002] DOID:5368 Wolffian duct adenocarcinoma DOID:5369 ovine progressive interstitial pneumonia A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm] progressive pneumonia of sheep (disorder) EXACT [SNOMEDCT_2005_07_31:48722001] DOID:5370 breast hemangiopericytoma A hemangiopericytoma that is manifested in the breast. [url:http\://www.jaoa.org/cgi/content/abstract/91/6/606] DOID:5373 retroperitoneal hemangiopericytoma DOID:5374 pilomatrixoma Pilomatrixoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:44155009] DOID:5375 hair follicle neoplasm Hair matrix tumour EXACT [SNOMEDCT_2005_07_31:44155009] DOID:5376 skin pilomatrix carcinoma Pilomatrix carcinoma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:307610008] DOID:5378 hemoglobin D disease Hemoglobin D disease (disorder) EXACT [SNOMEDCT_2005_07_31:66729008] DOID:5379 hemoglobin E disease Hemoglobin E disease (disorder) EXACT [SNOMEDCT_2005_07_31:25065001] DOID:538 internuclear ophthalmoplegia DOID:5380 lupus vulgaris Tuberculosis - lupus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:186251005] DOID:5381 bile duct adenoma An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. [url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/one/000001598.htm] Cholangioadenoma EXACT [NCI2004_11_17:C2942] DOID:5382 Bartholin's gland adenoma Bartholin gland adenoma EXACT [] DOID:5384 bile duct cystadenoma Cystadenoma of the bile duct EXACT [NCI2004_11_17:C4129] DOID:5385 mixed cell adenoma DOID:5386 lung adenoma pulmonary adenoma EXACT [NCI2004_11_17:C4455] DOID:5387 middle ear adenoma adenoma of the middle ear EXACT [NCI2004_11_17:C6834] DOID:5389 oxyphilic adenoma Oncocytoma EXACT [NCI2004_11_17:C3759] DOID:539 ophthalmoplegia Total ophthalmoplegia (disorder) EXACT [SNOMEDCT_2005_07_31:78097002] DOID:5390 clear cell adenoma An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8] Clear cell adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:1752006] DOID:5391 bronchus adenoma Bronchial adenoma, NOS EXACT [SNOMEDCT_2005_07_31:24482001] DOID:5392 acidophil adenoma Eosinophil adenoma EXACT [NCI2004_11_17:C6780] DOID:5393 brain angioma DOID:5394 prolactinoma Prolactinoma of Pituitary gland EXACT [NCI2004_11_17:C3342] DOID:5395 functioning pituitary adenoma Secretory adenoma of the Pituitary gland EXACT [NCI2004_11_17:C8388] DOID:5396 prolactin producing pituitary tumor Prolactin Secreting tumor of Pituitary EXACT [NCI2004_11_17:C7910] DOID:5397 ductal adenoma DOID:5398 lipoadenoma An adenoma that is composed_of adipose tissue. [url:http\://en.wiktionary.org/wiki/lipoadenoma] Lipoadenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:22024005] DOID:5399 ovine pulmonary adenomatosis A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf] Tumor Virus Infections RELATED [] DOID:540 strabismus DOID:5400 trabecular adenoma Trabecular adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:21930005] DOID:5401 water-clear cell adenoma An adenoma that derives_from epithelial cells which have clear cytoplasm. [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8] Water-clear cell adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:26638004] DOID:5402 vaginal adenoma DOID:5403 microcystic adenoma Microcystic adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:79494009] DOID:5404 atypical adenoma Atypical adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:24482001] DOID:5408 Paget's disease of bone A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. [url:http\://en.wikipedia.org/wiki/Paget%27s_disease_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=A00076, url:http\://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485, url:http\://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html] PAGET'S BONE DISEASE EXACT [MTH:547] DOID:5409 lung small cell carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. [url:http\://en.wikipedia.org/wiki/Small-cell_carcinoma] small cell neuroendocrine carcinoma of lung EXACT [NCI2004_11_17:C4917] DOID:541 convergence insufficiency or palsy DOID:5410 pulmonary neuroendocrine tumor DOID:5411 lung oat cell carcinoma poorly differentiated Endocrine neoplasm EXACT [NCI2004_11_17:C3915] DOID:5414 lung occult small cell carcinoma Occult small cell carcinoma of the lung EXACT [NCI2004_11_17:C6683] DOID:5416 recurrent small cell lung cancer relapsed small cell carcinoma of the lung EXACT [NCI2004_11_17:C9050] DOID:5418 schizoaffective disorder A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. [url:http\://en.wikipedia.org/wiki/Schizoaffective_disorder, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000930.htm] DOID:5419 schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. [url:http\://en.wikipedia.org/wiki/Schizophrenia] schizophrenia-1 EXACT [] DOID:5421 lung combined type small cell carcinoma A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma] combined type small cell carcinoma of lung RELATED [] DOID:5422 combined carcinoma of lung Combined carcinoma of the lung EXACT [NCI2004_11_17:C7591] DOID:5423 central nervous system hemangioblastoma Hemangioblastoma of the CNS EXACT [NCI2004_11_17:C7007] DOID:5425 ovarian hyperstimulation syndrome secondary Meig's syndrome EXACT [SNOMEDCT_2005_07_31:129635004] DOID:5426 premature ovarian failure An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. [url:http\://en.wikipedia.org/wiki/Premature_ovarian_failure, url:http\://www.merckmanuals.com/professional/gynecology_and_obstetrics/menstrual_abnormalities/premature_ovarian_insufficiency_or_failure.html] primary ovarian insufficiency EXACT [] DOID:5427 urinary bladder villous adenoma villous adenoma of urinary bladder EXACT [NCI2004_11_17:C7414] DOID:5429 bladder flat intraepithelial lesion Flat Intraepithelial Lesion of the urinary bladder EXACT [NCI2004_11_17:C37266] DOID:543 dystonia dystonic disease EXACT [] DOID:5430 intraurothelial neoplasia DOID:5432 bladder papillary transitional cell neoplasm urinary bladder Papillary Urothelial neoplasm EXACT [NCI2004_11_17:C39857] DOID:5433 urinary tract papillary transitional cell benign neoplasm urinary tract inverted papilloma EXACT [] DOID:5434 scrapie DOID:5435 variant Creutzfeldt-Jakob disease Bovine spongiform encephalopathy (disorder) EXACT [SNOMEDCT_2005_07_31:52869003] DOID:5437 intrahepatic bile duct adenoma adenoma of the Intrahepatic bile duct EXACT [NCI2004_11_17:C7126] DOID:5438 extrahepatic bile duct adenoma A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. [url:http\://www.joplink.net/prev/200803/08.html] adenoma of the extrahepatic bile duct EXACT [NCI2004_11_17:C5857] DOID:5439 papillary hidradenoma DOID:5442 eccrine acrospiroma Poroma (Acrospiroma) EXACT [NCI2004_11_17:C27273] DOID:5443 clear cell hidradenoma Clear cell myoepithelioma EXACT [SNOMEDCT_2005_07_31:254719003] DOID:5444 spiradenoma Eccrine spiradenoma of skin EXACT [SNOMEDCT_2005_07_31:403938001] DOID:5445 syringocystadenoma papilliferum Syringocystadenoma papilliferum (disorder) EXACT [SNOMEDCT_2005_07_31:239121009] DOID:5446 eccrine papillary adenoma Eccrine papillary adenoma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:253021007] DOID:5453 pulmonary venoocclusive disease pulmonary veno-occlusive disease (disorder) EXACT [SNOMEDCT_2005_07_31:89420002] DOID:5455 pulmonary vascular disorder DOID:5456 spinal vascular disorder DOID:5457 laryngeal neuroendocrine tumor neuroendocrine tumor of Larynx EXACT [NCI2004_11_17:C6023] DOID:5460 contagious pleuropneumonia A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia] DOID:5461 primary Mycoplasma infectious disease Mycoplasmosis (disorder) EXACT [SNOMEDCT_2005_07_31:174536008] DOID:5462 African swine fever A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. [url:http\://en.wikipedia.org/wiki/African_swine_fever, url:http\://www.oie.int/eng/maladies/fiches/a_A120.htm] swine hemorrhagic fever RELATED [] DOID:5463 cochlear disease DOID:5465 conjunctival intraepithelial neoplasm Intraepithelial Neoplasia of Conjunctiva EXACT [NCI2004_11_17:C6120] DOID:5467 conjunctival cancer neoplasm of conjunctiva EXACT [SNOMEDCT_2005_07_31:126996004] DOID:5468 biliary papillomatosis A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21988050] bile duct papillomatosis EXACT [NCI2004_11_17:C6881] DOID:5469 biliary tract intraductal papillary mucinous neoplasm DOID:5472 tumor of the thecoma fibroma group DOID:5474 ovarian serous adenofibroma DOID:5475 uterine corpus adenofibroma adenofibroma of uterine corpus RELATED [] DOID:5476 cervical adenofibroma DOID:5477 clear cell adenofibroma Clear cell adenofibroma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:58161009] DOID:5478 fallopian tube adenofibroma DOID:5479 papillary adenofibroma Papillary adenofibroma EXACT [SNOMEDCT_2005_07_31:2962009] DOID:548 malignant hypertensive heart disease malignant hypertensive heart disease NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194764008] DOID:5480 ovarian endometrioid adenofibroma DOID:5482 cystadenofibroma An adenofibroma that is composed_of epithelial ovarian tissue. [url:http\://www.ajronline.org/cgi/content/full/182/5/1259] Cystadenofibroma, NOS EXACT [SNOMEDCT_2005_07_31:2962009] DOID:5484 fibrous synovial sarcoma fibrous sarcoma of Synovium EXACT [NCI2004_11_17:C6533] DOID:5485 synovial sarcoma A synovium cancer which develops in the synovial membrane of the joints. [url:http\://en.wikipedia.org/wiki/Synovial_sarcoma, url:http\://www.cancer.gov/dictionary?cdrid=44626] DOID:5486 metastatic synovial sarcoma DOID:5487 spindle cell synovial sarcoma Synovial sarcoma, monophasic fibrous EXACT [SNOMEDCT_2005_07_31:37206003] DOID:5488 mediastinum synovial sarcoma A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/] Synovial sarcoma of mediastinum EXACT [NCI2004_11_17:C6618] DOID:5489 adult synovial sarcoma An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. [url:http\://sarcomahelp.org/learning_center/synovial_sarcoma.html] DOID:5491 pediatric synovial sarcoma DOID:5492 biphasic synovial sarcoma Synovial sarcoma, biphasic (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:18588008] DOID:5493 recurrent synovial sarcoma relapsed Synovial sarcoma EXACT [NCI2004_11_17:C8827] DOID:5494 epithelioid cell synovial sarcoma Synovial sarcoma, epithelioid cell (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:56422000] DOID:5495 monophasic synovial sarcoma Monophasic sarcoma of Synovium EXACT [NCI2004_11_17:C6534] DOID:5496 nonmetastatic synovial sarcoma Non-metastatic Synovial sarcoma EXACT [NCI2004_11_17:C8826] DOID:5497 Hepadnaviridae infectious disease A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. [url:http\://en.wikipedia.org/wiki/Hepadnaviridae] DOID:5500 cellular ependymoma DOID:5501 Pediculus humanus capitis infestation A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. [url:http\://en.wikipedia.org/wiki/Head-louse_infestation, url:http\://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm] Pediculus capitis infestation EXACT [] DOID:5502 lice infestation A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. [url:http\://en.wikipedia.org/wiki/Pediculosis] Pediculosis, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187545007] DOID:5503 spinal cord ependymoma A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. [url:http\://www.cancer.gov/dictionary?CdrID=46432] Ependymal neoplasm of the Spinal Cord EXACT [NCI2004_11_17:C3875] DOID:5504 tanycytic ependymoma DOID:5505 papillary ependymoma DOID:5507 clear cell ependymoma DOID:5508 brain stem ependymoma Ependymoma of the Brainstem EXACT [NCI2004_11_17:C5098] DOID:5509 pediatric ependymoma DOID:551 toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. [url:http\://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306] acute chemical pulmonary edema EXACT [] DOID:5510 pineal dysgerminoma DOID:5511 dysgerminoma of ovary A dysgerminoma that is located_in the ovary. [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] Ovarian Dysgerminoma EXACT [NCI2004_11_17:C8106] DOID:5513 Pediculus humanus corporis infestation A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000838.htm] Pediculus humanus infestation EXACT [SNOMEDCT_2005_07_31:25188002] DOID:5514 breast squamous cell carcinoma squamous cell carcinoma of breast RELATED [] DOID:5515 nasal cavity squamous cell carcinoma A nasal cavity carcinoma that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] squamous cell carcinoma of the nasal cavity EXACT [NCI2004_11_17:C8192] DOID:5516 gastric squamous cell carcinoma squamous cell carcinoma of stomach EXACT [NCI2004_11_17:C5475] DOID:5517 stomach carcinoma A stomach cancer that is located_in the stomach. [url:http\://en.wikipedia.org/wiki/Stomach_cancer] gastric carcinoma EXACT [] DOID:5518 penis squamous cell carcinoma A penis carcinoma that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] squamous cell carcinoma of penis RELATED [] DOID:5519 colon squamous cell carcinoma squamous cell carcinoma of colon RELATED [] DOID:552 pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. [url:http\://en.wikipedia.org/wiki/Pneumonia] acute pneumonia EXACT [] DOID:5520 head and neck squamous cell carcinoma A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. [url:http\://atlasgeneticsoncology.org/Tumors/HeadNeckSCCID5090.html, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=597171] squamous cell carcinomas of head and neck EXACT [] DOID:5521 keratinizing squamous cell carcinoma A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. [url:http\://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false] squamous cell carcinoma, keratinizing (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:18048008] DOID:5522 basaloid squamous cell carcinoma A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. [url:http\://www.ncbi.nlm.nih.gov/pubmed/19738459] Basaloid squamous cell carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128634009] DOID:5524 adenoid squamous cell carcinoma A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. [url:http\://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma] Pseudoglandular squamous carcinoma EXACT [NCI2004_11_17:C4106] DOID:5525 anal squamous cell carcinoma An anal carcinoma that arises near the squamocolumnar junction. [url:http\://en.wikipedia.org/wiki/Anal_cancer] Epidermoid anal carcinoma EXACT [NCI2004_11_17:C9161] DOID:5526 middle ear squamous cell carcinoma A middle ear carcinoma that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] squamous cell carcinoma of middle ear RELATED [] DOID:5527 ampulla of Vater squamous cell carcinoma An ampulla of Vater carcinoma that derives_from epithelial squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] DOID:5528 rectum squamous cell carcinoma squamous cell carcinoma of the rectum RELATED [] DOID:5529 lacrimal gland squamous cell carcinoma squamous cell carcinoma of lacrimal gland RELATED [] DOID:5530 thymus squamous cell carcinoma Epidermoid Thymic carcinoma EXACT [NCI2004_11_17:C6455] DOID:5531 ovarian squamous cell carcinoma DOID:5532 ovarian squamous cell neoplasm DOID:5533 endometrial squamous cell carcinoma squamous cell carcinoma of Endometrium EXACT [NCI2004_11_17:C8719] DOID:5534 renal pelvis squamous cell carcinoma squamous cell carcinoma of renal pelvis RELATED [] DOID:5535 gallbladder squamous cell carcinoma squamous cell carcinoma of the gallbladder RELATED [] DOID:5536 sarcomatoid squamous cell skin carcinoma squamous cell carcinoma, sarcomatoid EXACT [SNOMEDCT_2005_07_31:10288008] DOID:5537 squamous cell bile duct carcinoma bile duct squamous cell carcinoma EXACT [NCI2004_11_17:C5777] DOID:5538 external ear squamous cell carcinoma squamous cell carcinoma of external ear RELATED [] DOID:5539 ureter squamous cell carcinoma ureteral Epidermoid carcinoma EXACT [NCI2004_11_17:C6154] DOID:5540 fallopian tube squamous cell carcinoma squamous cell carcinoma of the fallopian tube EXACT [NCI2004_11_17:C6282] DOID:5545 anal neuroendocrine tumor neuroendocrine tumor of anus EXACT [NCI2004_11_17:C5603] DOID:5546 femoral cancer A bone cancer that is located_in the femur. [url:http\://lib.bioinfo.pl/meid\:61888] neoplasm of femur EXACT [SNOMEDCT_2005_07_31:126583006] DOID:5547 pulmonary artery choriocarcinoma Syncytioma of pulmonary artery EXACT [NCI2004_11_17:C5381] DOID:5549 CNS choriocarcinoma Choriocarcinoma of CNS EXACT [NCI2004_11_17:C7012] DOID:5550 choriocarcinoma of ovary Ovarian Choriocarcinoma EXACT [NCI2004_11_17:C4515] DOID:5551 choriocarcinoma of the testis testicular Choriocarcinoma EXACT [NCI2004_11_17:C7733] DOID:5552 mediastinum choriocarcinoma Choriocarcinoma of mediastinum EXACT [NCI2004_11_17:C6440] DOID:5553 pineal region choriocarcinoma Pineal Choriocarcinoma EXACT [NCI2004_11_17:C6759] DOID:5556 testicular malignant germ cell cancer malignant germ cell tumor of testis EXACT [NCI2004_11_17:C9063] DOID:5557 testicular germ cell cancer A testicular cancer that has_material_basis_in germ cells. [url:http\://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer, url:http\://www.cancer.gov/dictionary?CdrID=445090, url:http\://www.cancer.gov/dictionary?CdrID=695185] testicular germ cell neoplasm RELATED [] DOID:5559 mediastinal cancer A thoracic cancer that is located_in the mediastinum. [url:http\://en.wikipedia.org/wiki/Mediastinal] Tumour of mediastinum EXACT [SNOMEDCT_2005_07_31:94147001] DOID:5560 mediastinal mesenchymal tumor soft tissue tumor of mediastinum EXACT [NCI2004_11_17:C6637] DOID:5561 gastric teratoma teratoma of stomach EXACT [NCI2004_11_17:C5259] DOID:5562 dermoid cyst with malignant transformation teratoma with malignant transformation [dup] (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:302854009] DOID:5563 malignant teratoma primary malignant extragonadal teratoma EXACT [] DOID:5564 fallopian tube teratoma DOID:5565 adult teratoma adult teratoma, NOS EXACT [SNOMEDCT_2005_07_31:42717009] DOID:5566 mature teratoma Mature teratoma EXACT [SNOMEDCT_2005_07_31:55818009] DOID:5567 ovarian germ cell teratoma germ cell teratoma of Ovary EXACT [NCI2004_11_17:C8110] DOID:5568 mediastinum teratoma teratoma of mediastinum EXACT [NCI2004_11_17:C6438] DOID:5569 malignant syringoma Syringomatous carcinoma EXACT [SNOMEDCT_2005_07_31:128896007] DOID:557 kidney disease A urinary system disease that is located_in the kidney. [url:http\://www.nlm.nih.gov/medlineplus/kidneydiseases.html] nephropathy EXACT [] DOID:5570 malignant acrospiroma malignant Acrospiroma EXACT [NCI2004_11_17:C27532] DOID:5572 Beckwith-Wiedemann syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. [url:http\://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome, url:http\://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract] DOID:5573 classical swine fever A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf] Hog cholera (disorder) EXACT [SNOMEDCT_2005_07_31:28044006] DOID:5574 VIPoma Vipoma, malignant EXACT [SNOMEDCT_2005_07_31:31131002] DOID:5575 delayed puberty Delayed puberty NOS EXACT [SNOMEDCT_2005_07_31:267487003] DOID:5576 inhibited male orgasm male Orgasmic disorder EXACT [NCI2004_11_17:C34959] DOID:5577 gastrinoma A neuroendocrine tumor that results_in an overproduction of gastric acid. [url:http\://www.cancer.gov/dictionary?CdrID=44239] malignant gastrinoma EXACT [] DOID:5578 small intestinal gastrinoma small intestinal G-cell gastrin producing tumor EXACT [] DOID:5579 gastric gastrinoma gastric G-cell gastrin producing tumor EXACT [] DOID:558 acute pyelonephritis without lesion of renal medullary necrosis DOID:5580 pancreatic gastrinoma pancreatic G-cell tumor EXACT [NCI2004_11_17:C9069] DOID:5583 lung giant cell carcinoma A lung carcinoma that is located_in large undifferentiated cells. [url:http\://chemo.net/large.htm, url:http\://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma] Giant cell lung carcinoma EXACT [NCI2004_11_17:C4452] DOID:5585 Ferguson-Smith tumor Multiple self-healing epithelioma of Ferguson-Smith (disorder) EXACT [SNOMEDCT_2005_07_31:254659009] DOID:5587 Volkmann contracture Volkmann's ischemic contracture EXACT [ICD9CM_2006:958.6] DOID:5588 lung papillary adenocarcinoma Papillary adenocarcinoma of the lung EXACT [NCI2004_11_17:C5650] DOID:559 acute pyelonephritis acute pyelonephritis NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197771007] DOID:5590 aggressive digital papillary adenocarcinoma DOID:5591 eccrine papillary adenocarcinoma Digital papillary adenocarcinoma EXACT [SNOMEDCT_2005_07_31:128898008] DOID:5592 breast papillary carcinoma solid papillary carcinoma of the breast RELATED [] DOID:5593 gastric papillary adenocarcinoma Papillary adenocarcinoma of stomach EXACT [NCI2004_11_17:C5472] DOID:5594 intraductal papillary adenocarcinoma with invasion Intraductal papillary adenocarcinoma with invasion (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:64524002] DOID:5595 papillary thymic adenocarcinoma Papillary carcinoma of the Thymus EXACT [NCI2004_11_17:C27937] DOID:5597 fallopian tube papillary adenocarcinoma Papillary adenocarcinoma of the fallopian tube EXACT [NCI2004_11_17:C6267] DOID:5598 fallopian tube serous adenocarcinoma DOID:5599 precursor T-lymphoblastic lymphoma/leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia EXACT [NCI2004_11_17:C8694] DOID:560 jaw-winking syndrome Pterygoid-levator synkinesis EXACT [SNOMEDCT_2005_07_31:5127009] DOID:5600 precursor lymphoblastic lymphoma/leukemia DOID:5601 T-cell neoplasm DOID:5602 T-cell adult acute lymphocytic leukemia adult Precursor T Lymphoblastic Leukemia EXACT [NCI2004_11_17:C9142] DOID:5603 acute T cell leukemia T-cell acute lymphoblastic leukemia (disorder) EXACT [SNOMEDCT_2005_07_31:277575008] DOID:5604 adult acute lymphocytic leukemia adult acute lymphoid Leukemia EXACT [NCI2004_11_17:C4967] DOID:5605 breast medullary carcinoma medullary carcinoma of breast RELATED [] DOID:5608 dental pulp calcification pulpal calcifications EXACT [SNOMEDCT_2005_07_31:57602001] DOID:5609 congenital adrenal gland disorder DOID:561 trigeminal nerve disease DOID:5611 anaplastic intraspinal meningioma malignant Intraspinal meningioma EXACT [NCI2004_11_17:C8605] DOID:5612 spinal cancer A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). [url:http\://en.wikipedia.org/wiki/Spinal_tumor] tumor of the Spinal Cord EXACT [NCI2004_11_17:C3381] DOID:5613 anaplastic meningioma meningioma, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:78303004] DOID:5614 eye disease An eye and adnexa disease that is located_in the eye. [url:http\://en.wikipedia.org/wiki/Eye_disease] DOID:5615 spinal canal intradural extramedullary neoplasm Intradural Extramedullary Spinal tumors EXACT [NCI2004_11_17:C5135] DOID:5616 intraepithelial neoplasm epithelial dysplasia (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:61313004] DOID:562 third cranial nerve disease Third cranial nerve disease (disorder) EXACT [SNOMEDCT_2005_07_31:60750009] DOID:5621 histiocytic and dendritic cell cancer A sarcoma and hematologic cancer that derives_from follicular lymphoma. [url:http\://www.springerlink.com/content/h9wrn7p72x26q035/] histiocytic and dendritic cell RELATED [] DOID:5622 Major puerperal infectious disease DOID:5623 adenosquamous breast carcinoma DOID:5624 adenosquamous bile duct carcinoma A bile duct carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] bile duct Adenosquamous carcinoma EXACT [NCI2004_11_17:C5778] DOID:5625 esophageal adenosquamous carcinoma An esophageal carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] DOID:5626 thymus adenosquamous carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Adenosquamous carcinoma of the Thymus EXACT [NCI2004_11_17:C6458] DOID:5627 adenosquamous gallbladder carcinoma A gallbladder carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Adenosquamous carcinoma of the gallbladder EXACT [NCI2004_11_17:C7356] DOID:5628 ampulla of Vater adenosquamous carcinoma An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] DOID:5629 adenosquamous colon carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Colonic Adenosquamous carcinoma EXACT [NCI2004_11_17:C5491] DOID:563 primary Fusobacteriaceae infectious disease DOID:5630 Bartholin's gland adenosquamous carcinoma A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Bartholin gland adenosquamous carcinoma EXACT [] DOID:5631 endometrial adenosquamous carcinoma An endometrial carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Adenosquamous carcinoma of Endometrium EXACT [NCI2004_11_17:C6290] DOID:5632 optic nerve sheath meningioma optic nerve Sheath meningioma EXACT [NCI2004_11_17:C4538] DOID:5633 visual pathway meningioma meningioma of the optic tract EXACT [NCI2004_11_17:C5587] DOID:5634 adenosquamous prostate carcinoma A prostate carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Adenosquamous carcinoma of the prostate EXACT [NCI2004_11_17:C5538] DOID:5635 gastric adenosquamous carcinoma Adenosquamous carcinoma of stomach EXACT [NCI2004_11_17:C5474] DOID:5636 cervical adenosquamous carcinoma A cervical carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] Adenosquamous cell carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C4519] DOID:5637 adenosquamous pancreas carcinoma A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] adenosquamous carcinoma of the pancreas RELATED [] DOID:5638 malignant giant cell tumor of soft parts malignant giant cell tumor of soft parts (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:48460009] DOID:5639 rete testis neoplasm DOID:5641 diffuse pulmonary fibrosis DOID:5642 localized pulmonary fibrosis DOID:5643 urethral villous adenoma DOID:5644 tricuspid valve prolapse Tricuspid valve prolapse (disorder) EXACT [SNOMEDCT_2005_07_31:253383003] DOID:5648 choroid plexus carcinoma A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Choroid_plexus_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45963] malignant tumor of choroid plexus (disorder) EXACT [SNOMEDCT_2005_07_31:188292007] DOID:5649 solid carcinoma solid carcinoma with mucin formation EXACT [SNOMEDCT_2005_07_31:81920005] DOID:565 bilateral hypoactive labyrinth Hypoactive labyrinth, bilateral EXACT [ICD9CM_2006:386.54] DOID:5651 anaplastic carcinoma A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. [url:http\://en.wikipedia.org/wiki/Anaplastic_carcinoma, url:http\://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma] carcinoma, anaplastic type, NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189553008] DOID:5652 metaplastic carcinoma Metaplastic carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128705006] DOID:5655 chiasmal syndrome disorder of optic chiasm EXACT [ICD9CM_2006:377.5] DOID:5656 cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves. [url:http\://en.wikipedia.org/wiki/Cranial_nerve_disease, url:http\://www.ncbi.nlm.nih.gov/mesh/68003389] disorder of cranial nerve EXACT [SNOMEDCT_2005_07_31:276379008] DOID:5658 lipid-rich carcinoma Lipid-rich carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:3839000] DOID:5659 invasive carcinoma A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. [url:http\://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx] DOID:566 labyrinthine dysfunction DOID:5660 lymphoepithelioma-like carcinoma A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. [url:http\://www.najms.org/resources/PDF++375-376+Lymphoepithelioma+like+carcinoma.pdf] Nasopharyngeal type Undifferentiated carcinoma EXACT [NCI2004_11_17:C4107] DOID:5662 pleomorphic carcinoma A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. [url:http\://ats.ctsnetjournals.org/cgi/content/full/78/5/1742] Pleomorphic carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:16741004] DOID:5663 helicobacter pylori-related carcinoma DOID:5665 external ear cancer malignant tumor of external ear (disorder) EXACT [SNOMEDCT_2005_07_31:277156006] DOID:5667 sweat gland carcinoma carcinoma of the Sweat gland EXACT [NCI2004_11_17:C6938] DOID:5670 comedo carcinoma A carcinoma that is in situ (very early-stage breast cancer). [url:http\://www.cancer.gov/dictionary/?CdrID=44330] Comedocarcinoma NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189709000] DOID:5672 large intestine cancer An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. [url:http\://en.wikipedia.org/wiki/Large_intestine] DOID:5675 cribriform carcinoma ductal carcinoma, cribriform type EXACT [SNOMEDCT_2005_07_31:30156004] DOID:5677 extragonadal nonseminomatous germ cell tumor An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous, url:http\://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1] primary malignant Extragonadal Nonseminoma EXACT [NCI2004_11_17:C8885] DOID:5678 nerve fibre bundle defect Retinal nerve fiber bundle deficiency EXACT [SNOMEDCT_2005_07_31:193428001] DOID:5679 retinal disease An eye disease that is located_in the retina. [url:http\://en.wikipedia.org/wiki/Retina#Diseases_and_disorders] DOID:5680 embryonal testis carcinoma An embryonal carcinoma that is located_in the testis. [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma] testicular embryonal carcinoma EXACT [] DOID:5681 ovarian embryonal carcinoma An embryonal carcinoma that is located_in the ovary. [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma] Embryonal carcinoma of the Ovary EXACT [NCI2004_11_17:C8108] DOID:5683 hereditary breast ovarian cancer An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families. [url:http\://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome, url:http\://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1] DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. [url:http\://omim.org/entry/271510, url:http\://www.ncbi.nlm.nih.gov/pubmed/10797420] Spondylar and nasal Alterations-Striated Metaphyses syndrome EXACT [NCI2004_11_17:C3034] DOID:5687 flat adenoma syndrome DOID:5688 Werner syndrome An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is caused by mutations in the WRN gene, located_in chromosome 8. [PMID:15946710, PMID:9288107, url:https\://en.wikipedia.org/wiki/Werner_syndrome] WS EXACT [NCI2004_11_17:C3447] DOID:5690 atypical lipomatous tumor Liposarcoma, well differentiated (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:28655007] DOID:5691 visual cortex disease visual cortex dysfunction EXACT [SNOMEDCT_2005_07_31:86492004] DOID:5692 cellular myxoid liposarcoma Round cell liposarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:43296007] DOID:5693 adult liposarcoma DOID:5694 esophagus liposarcoma Liposarcoma of esophagus EXACT [NCI2004_11_17:C5705] DOID:5695 pediatric liposarcoma DOID:5696 larynx liposarcoma A liposarcoma that is located_in the larynx. [url:http\://www.springerlink.com/content/k571r5t8637pg5p5/] Liposarcoma of Larynx EXACT [NCI2004_11_17:C6021] DOID:5697 liposarcoma of the ovary Liposarcoma of Ovary EXACT [NCI2004_11_17:C6419] DOID:5698 fibroblastic liposarcoma Fibroblastic liposarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128883006] DOID:5699 kidney liposarcoma A liposarcoma that is located_in the kidney. [url:http\://emedicine.medscape.com/article/391272-overview] Liposarcoma of kidney EXACT [NCI2004_11_17:C6185] DOID:57 aortic valve insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. [url:http\://en.wikipedia.org/wiki/Aortic_insufficiency] Rheumatic aortic valve regurgitation EXACT [MTHICD9_2006:395.1] DOID:5700 gastric liposarcoma Liposarcoma of the stomach EXACT [NCI2004_11_17:C5488] DOID:5701 breast liposarcoma Liposarcoma of the breast EXACT [NCI2004_11_17:C5187] DOID:5702 pleomorphic liposarcoma Pleomorphic liposarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:112683004] DOID:5703 mixed liposarcoma mixed liposarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:11073003] DOID:5704 Sclerosing liposarcoma Sclerosing liposarcoma (disorder) EXACT [SNOMEDCT_2005_07_31:404068003] DOID:5705 spindle cell Liposarcoma spindle cell liposarcoma (disorder) EXACT [SNOMEDCT_2005_07_31:404073009] DOID:5707 liposarcoma nonmetastatic Non-metastatic Liposarcoma EXACT [NCI2004_11_17:C8817] DOID:5708 liposarcoma metastatic DOID:5709 mixed-type liposarcoma DOID:571 median neuropathy DOID:5710 liposarcoma recurrent relapsed Liposarcoma EXACT [NCI2004_11_17:C8818] DOID:5711 vulvar liposarcoma DOID:5712 cutaneous liposarcoma Liposarcoma of the skin EXACT [NCI2004_11_17:C5615] DOID:5713 mediastinum liposarcoma A liposarcoma and mediastinum sarcoma that is located_in the mediastinum. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/] Liposarcoma of mediastinum EXACT [NCI2004_11_17:C6614] DOID:5714 intracranial liposarcoma DOID:5715 functionless pituitary adenoma Non-Secretory adenoma of the Pituitary gland EXACT [NCI2004_11_17:C4348] DOID:5716 hormone producing pituitary cancer Somatotropinoma EXACT [NCI2004_11_17:C7911] DOID:5717 recurrent pituitary tumor relapsed tumor of Pituitary EXACT [NCI2004_11_17:C7912] DOID:5718 adrenal neuroblastoma An adrenal gland cancer that derives_from immature neuroblastic cells. [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma, url:http\://www.cancer.gov/cancertopics/types/neuroblastoma] neuroblastoma of Adrenal gland EXACT [NCI2004_11_17:C4827] DOID:5719 adrenal medulla cancer An adrenal gland cancer that is located_in the adrenal medulla. [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla] malignant tumor of the Adrenal Medulla EXACT [NCI2004_11_17:C4396] DOID:572 mononeuritis of upper limb and mononeuritis multiplex DOID:5720 neuroblastomas of the adrenal gland and sympathetic nervous system Neuroblastomas of Adrenal gland and Sympathetic nervous system EXACT [NCI2004_11_17:C6964] DOID:5723 optic atrophy atrophy of optic disc EXACT [] DOID:5724 seminal vesicle cystadenoma DOID:5725 rete ovarii cystadenoma DOID:5726 uterine ligament papillary cystadenoma DOID:5727 uterine ligament cancer tumor of the uterine Ligament EXACT [NCI2004_11_17:C40133] DOID:5728 diffuse peritoneal leiomyomatosis leiomyomatosis peritonealis disseminata (disorder) EXACT [SNOMEDCT_2005_07_31:62557001] DOID:5729 intravenous leiomyomatosis Intravenous leiomyomatosis (disorder) EXACT [SNOMEDCT_2005_07_31:254883003] DOID:573 nerve compression syndrome peripheral nerve entrapment syndrome EXACT [SNOMEDCT_2005_07_31:45781009] DOID:5730 salpingitis isthmica nodosa DOID:5731 chronic salpingitis DOID:5732 pyosalpinx Pyosalpinx (disorder) EXACT [SNOMEDCT_2005_07_31:397810006] DOID:5733 salpingitis DOID:5738 secondary myelofibrosis DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system. [url:http\://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no] peripheral neuropathy RELATED [CSP2005:2042-6617] DOID:5740 small intestinal vasoactive intestinal peptide producing tumor small intestinal VIP Producing tumor EXACT [NCI2004_11_17:C27455] DOID:5741 pancreatic vasoactive intestinal peptide producing tumor pancreatic VIP Producing tumor EXACT [NCI2004_11_17:C27454] DOID:5742 pancreatic acinar cell adenocarcinoma A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. [url:http\://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas, url:http\://www.pathologyoutlines.com/topic/pancreasacinar.html] pancreatic acinar cell carcinoma EXACT [NCI2004_11_17:C7977] DOID:5743 acinic cell breast carcinoma DOID:5744 ovary serous adenocarcinoma An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). [url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Serous_carcinoma] serous carcinoma of Ovary EXACT [NCI2004_11_17:C7550] DOID:5746 ovarian serous cystadenocarcinoma An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. [url:http\://cancergenome.nih.gov/cancersselected/ovarian, url:http\://en.wikipedia.org/wiki/Serous_cystadenocarcinoma] serous cystadenoma EXACT [] DOID:5747 uterine ligament serous adenocarcinoma DOID:5748 rheumatic pulmonary valve disease Rheumatic pulmonary valve disease NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194747005] DOID:5749 pulmonary valve disease pulmonary valve disorder EXACT [ICD9CM_2006:424.3] DOID:5750 uterine corpus serous adenocarcinoma A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. [url:http\://en.wikipedia.org/wiki/Uterine_serous_carcinoma] uterine serous carcinoma EXACT [] DOID:5751 pancreatic serous cystadenocarcinoma serous cystadenocarcinoma of pancreas EXACT [NCI2004_11_17:C5724] DOID:5752 cervical serous adenocarcinoma DOID:5757 endocervicitis DOID:5758 malignant mesenchymoma Mesenchymoma, malignant (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:89623007] DOID:5759 sebaceous gland neoplasm Sebaceous neoplasm EXACT [NCI2004_11_17:C3363] DOID:576 proteinuria DOID:5760 sebaceous breast carcinoma DOID:5761 vulvar sebaceous carcinoma DOID:5763 lung clear cell-sugar-tumor DOID:5764 lung meningioma pulmonary meningioma EXACT [NCI2004_11_17:C5668] DOID:5765 primary ectopic meningioma DOID:5766 pulmonary sclerosing hemangioma Pneumocytoma EXACT [NCI2004_11_17:C5656] DOID:5767 hilar lung neoplasm neoplasm of hilus of lung (disorder) EXACT [SNOMEDCT_2005_07_31:126707007] DOID:5768 Nager acrofacial dysostosis An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. [url:http\://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/nager-syndrome, url:http\://www.faces-cranio.org/Disord/Nager.htm, url:http\://www.nagerormillersynd.com/] preaxial manibulofacial dysostosis EXACT [] DOID:5769 verruciform xanthoma of skin Verruciform xanthoma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254756007] DOID:5770 Mycobacterium avium-intracellulare lymphadenitis MAI lymphadenitis EXACT [] DOID:5771 Mycobacterium avium complex lymphadenitis MAC lymphadenitis EXACT [] DOID:5772 central nervous system hematologic cancer A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. [url:http\://www.oncologystat.com/journals/ew/YSONC/Central_Nervous_System_Disease_in_Hematologic_Malignancies_Historical_Perspective_and_Practical_Applications.html] hematopoietic neoplasm of central nervous system RELATED [] DOID:5773 oral submucous fibrosis Oral submucosal fibrosis, including of tongue EXACT [ICD9CM_2006:528.8] DOID:5774 giant hemangioma DOID:5775 cavernous hemangioma of colon Colonic Cavernous hemangioma EXACT [NCI2004_11_17:C5395] DOID:5776 cavernous hemangioma of face DOID:5777 rectum neuroendocrine neoplasm neuroendocrine tumor of rectum EXACT [NCI2004_11_17:C5698] DOID:578 urination disorder urination disorder EXACT [CSP2005:3047-0432] DOID:5781 atrophic flaccid tympanic membrane DOID:5782 tympanic membrane disease DOID:5784 esophageal neuroendocrine tumor neuroendocrine tumor of esophagus EXACT [NCI2004_11_17:C5821] DOID:5785 recurrent hepatoblastoma relapsed Hepatoblastoma EXACT [NCI2004_11_17:C8643] DOID:5786 recurrent childhood cancer of liver relapsed pediatric cancer of the Liver EXACT [NCI2004_11_17:C7839] DOID:5789 mixed hepatoblastoma mixed epithelial and mesenchymal hepatoblastoma EXACT [] DOID:5790 resectable hepatoblastoma DOID:5792 hepatoblastoma with pure fetal epithelial differentiation DOID:5796 nonresectable hepatoblastoma Non-Resectable Hepatoblastoma EXACT [NCI2004_11_17:C8641] DOID:5797 mixed hepatoblastoma with teratoid features DOID:5798 macrotrabecular hepatoblastoma DOID:580 acute urate nephropathy Uric acid urolithiasis EXACT [SNOMEDCT_2005_07_31:267441009] DOID:5802 hepatoblastoma with combined fetal epithelial differentiation DOID:5804 discrete subaortic stenosis DOID:5805 subvalvular aortic stenosis DOID:5806 stork bite Unna's nevus EXACT [NCI2004_11_17:C4399] DOID:5809 childhood parosteal osteogenic sarcoma DOID:581 gouty nephropathy DOID:5810 adenosine deaminase deficiency A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency] ADA EXACT [] DOID:5812 MHC class II deficiency SCID due to absent class II HLA antigens (disorder) EXACT [SNOMEDCT_2005_07_31:71904008] DOID:5813 purine nucleoside phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. [url:http\://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency] Purine-Nucleoside Phosphorylase deficiency EXACT [NCI2004_11_17:C3963] DOID:5815 cerebral lymphoma A cerebrum cancer that affects the lymph cells and derives_from the brain. [url:http\://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1, url:http\://www.ncbi.nlm.nih.gov/pubmed/10563426, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000734.htm] primary Lymphoma of Cerebrum EXACT [NCI2004_11_17:C3883] DOID:5818 ALPS-associated lymphoma DOID:5819 localized lymphoma DOID:582 hemoglobinuria DOID:5820 composite lymphoma A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. [url:http\://www.cancer.gov/dictionary/?CdrID=633086] DOID:5821 methotrexate-associated lymphoproliferation DOID:5822 gray zone lymphoma A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. [url:http\://en.wikipedia.org/wiki/Gray_zone_lymphoma] DOID:5823 pediatric lymphoma DOID:5825 adult lymphoma DOID:5826 breast lymphoma malignant lymphoma of breast (disorder) EXACT [SNOMEDCT_2005_07_31:278052009] DOID:5828 endometrioid ovary carcinoma Ovarian endometrioid carcinoma EXACT [NCI2004_11_17:C7979] DOID:5829 uterine ligament endometrioid adenocarcinoma DOID:583 hemolytic anemia ANEMIA HEMOLYTIC EXACT [MTH:NOCODE] DOID:5830 cervical endometrioid adenocarcinoma endometrioid carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C6343] DOID:5831 fallopian tube endometrioid adenocarcinoma fallopian tube endometrioid neoplasm RELATED [] DOID:5832 metastatic endometrioid carcinoma DOID:5834 spermatocytoma Spermatocytic seminoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:9294008] DOID:5838 extragonadal seminoma primary extragonadal seminoma EXACT [] DOID:5842 testis seminoma testicular Seminoma Pure EXACT [NCI2004_11_17:C7328] DOID:5843 posteroinferior myocardial infarction DOID:5844 myocardial infarction A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. [PMID:17951287, url:https\://en.wikipedia.org/wiki/Myocardial_infarction] Myocardial infarct EXACT [SNOMEDCT_2005_07_31:266288001] DOID:5845 anterolateral myocardial infarction DOID:5846 septal myocardial infarction DOID:5847 posterior myocardial infarction Posterior myocardial infarction NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194800006] DOID:5848 apical myocardial infarction DOID:5849 subendocardial myocardial infarction DOID:585 nephrolithiasis UROLITHIASIS, CALCIUM OXALATE EXACT [] DOID:5850 inferior myocardial infarction Inferior myocardial infarction NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194804002] DOID:5851 posterolateral myocardial infarction DOID:5852 inferolateral myocardial infarct DOID:5853 lateral myocardial infarction Lateral myocardial infarction NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194801005] DOID:5854 silent myocardial infarction Silent myocardial infarction (disorder) EXACT [SNOMEDCT_2005_07_31:233843008] DOID:5855 anteroseptal myocardial infarction DOID:5857 secondary chondrosarcoma DOID:5859 periosteal chondrosarcoma Periosteal chondrosarcoma EXACT [SNOMEDCT_2005_07_31:26211003] DOID:5861 myxoid chondrosarcoma Myxoid chondrosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:75622000] DOID:5862 localized chondrosarcoma DOID:5863 recurrent chondrosarcoma relapsed chondrosarcoma EXACT [NCI2004_11_17:C8780] DOID:5865 metastatic chondrosarcoma DOID:5866 juxtacortical chondrosarcoma Juxtacortical chondrosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:26211003] DOID:5867 clear cell chondrosarcoma Clear cell chondrosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128775007] DOID:587 tuberculous lung cavity A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. [url:http\://www.bmj.com/cgi/reprint/1/4177/115.pdf] tuberculous cavity of lung EXACT [] DOID:5870 eosinophilic pneumonia A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. [url:http\://en.wikipedia.org/wiki/Eosinophilic_pneumonia] Pneumonia, eosinophilic EXACT [MTHICD9_2006:518.3] DOID:5872 placental necrosis DOID:5874 retroperitoneal germ cell neoplasm germ cell tumor of Retroperitoneum EXACT [NCI2004_11_17:C6447] DOID:5875 retroperitoneal cancer An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space] tumor of retroperitoneum (disorder) EXACT [SNOMEDCT_2005_07_31:254617008] DOID:5876 apocrine sweat gland neoplasm Apocrine tumor EXACT [NCI2004_11_17:C6798] DOID:5877 endocardium cancer malignant tumor of endocardium EXACT [] DOID:5884 benign intermediate mesothelioma Well-differentiated Papillary tumor of Mesothelium EXACT [NCI2004_11_17:C7635] DOID:5886 mixed embryonal carcinoma and teratoma with seminoma of the testis mixed Embryonal carcinoma and teratoma with Seminoma of testis EXACT [NCI2004_11_17:C6352] DOID:5888 congenital cystic kidney disease DOID:5889 anaplastic ependymoma Undifferentiated Ependymoma EXACT [NCI2004_11_17:C4049] DOID:589 congenital hemolytic anemia hereditary hemolytic anemia EXACT [] DOID:5890 malignant adult ependymoma DOID:5893 childhood malignant mesenchymoma DOID:5894 adult malignant mesenchymoma DOID:5895 clear cell cystadenofibroma Clear cell cystadenofibroma EXACT [SNOMEDCT_2005_07_31:58161009] DOID:5896 ovarian clear cell cystadenofibroma DOID:5897 ovarian clear cell adenofibroma DOID:5900 meningeal melanocytoma melanocytoma of meninges (disorder) EXACT [SNOMEDCT_2005_07_31:277527003] DOID:5907 penis non-invasive verrucous carcinoma Non-Invasive Penile verrucous carcinoma EXACT [NCI2004_11_17:C27791] DOID:5908 penis verrucous carcinoma verrucous squamous carcinoma of penis EXACT [NCI2004_11_17:C6982] DOID:591 phobic disorder An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] DOID:5913 brachial plexus neoplasm tumor of the Brachial Plexus EXACT [NCI2004_11_17:C5823] DOID:5914 nonencapsulated sclerosing carcinoma Papillary carcinoma, diffuse sclerosing EXACT [SNOMEDCT_2005_07_31:62681000] DOID:5915 uterus intravascular leiomyomatosis Intravascular leiomyomatosis of Uterus EXACT [NCI2004_11_17:C5356] DOID:5916 uterine corpus leiomyomatosis DOID:5917 uterine corpus diffuse leiomyomatosis DOID:5918 localized unresectable adult primary liver cancer localized Unresectable adult Liver carcinoma EXACT [NCI2004_11_17:C7878] DOID:5919 localized unresectable adult primary hepatoma DOID:5920 malignant fibrous histiocytoma metastatic DOID:5921 adult brainstem mixed glioma adult brain stem mixed glioma EXACT [NCI2004_11_17:C9371] DOID:5922 adult brainstem astrocytoma DOID:5923 distal biliary tract carcinoma carcinoma of the Distal biliary tract EXACT [NCI2004_11_17:C7109] DOID:5924 recurrent extrahepatic bile duct cancer recurrent extrahepatic bile duct carcinoma EXACT [NCI2004_11_17:C7893] DOID:5926 extrahepatic bile duct small cell adenocarcinoma Oat cell extrahepatic bile duct carcinoma EXACT [NCI2004_11_17:C5845] DOID:5928 autosomal recessive polycystic kidney Polycystic kidney, autosomal recessive EXACT [ICD9CM_2006:753.14] DOID:593 agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] Fear of open spaces (finding) EXACT [SNOMEDCT_2005_07_31:247830007] DOID:5931 unresectable extrahepatic bile duct cancer Unresectable extrahepatic bile duct carcinoma EXACT [NCI2004_11_17:C7892] DOID:5933 resectable bile duct cancer Resectable bile duct cancer EXACT [NCI2004_11_17:C8640] DOID:5934 localized extrahepatic bile duct cancer localized extrahepatic bile duct carcinoma EXACT [NCI2004_11_17:C7891] DOID:5936 ovarian mixed germ cell neoplasm mixed germ cell tumor of Ovary EXACT [NCI2004_11_17:C8114] DOID:5937 autosomal dominant polycystic kidney Polycystic kidney, autosomal dominant EXACT [ICD9CM_2006:753.13] DOID:594 panic disorder An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. [url:http\://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml] panic anxiety syndrome EXACT [CSP2005:4000-0280] DOID:5940 malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:134324009] DOID:5941 lung carcinoma metastatic to the brain DOID:5948 angiokeratoma of mibelli Angiokeratoma of Mibelli (disorder) EXACT [SNOMEDCT_2005_07_31:62727008] DOID:5949 angiokeratoma circumscriptum Angiokeratoma circumscriptum (disorder) EXACT [SNOMEDCT_2005_07_31:21848000] DOID:5957 bladder urachal squamous cell carcinoma DOID:5958 bladder urachal carcinoma DOID:5963 schistosoma hematobium-related bladder squamous cell carcinoma DOID:5973 kidney pelvis papillary carcinoma Papillary carcinoma of renal Pelvis EXACT [NCI2004_11_17:C6148] DOID:5974 renal pelvis transitional cell carcinoma Urothelial cell carcinoma of renal Pelvis EXACT [NCI2004_11_17:C7355] DOID:5975 renal pelvis papillary tumor Papillary neoplasm of renal Pelvis EXACT [NCI2004_11_17:C8603] DOID:5976 occlusion precerebral artery occlusion and stenosis of precerebral artery RELATED [] DOID:5977 renal pelvis neoplasm tumor of renal pelvis (disorder) EXACT [SNOMEDCT_2005_07_31:254926009] DOID:5979 human papilloma virus related vulvar squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. [url:http\://cebp.aacrjournals.org/content/18/7/2061.abstract, url:http\://emedicine.medscape.com/article/219110-overview] vulvar condylomatous carcinoma EXACT [] DOID:5980 hemispheric anaplastic astrocytoma Undifferentiated Hemispheric astrocytoma EXACT [NCI2004_11_17:C5123] DOID:5981 hamartoma of hypothalamus Hypothalamic hamartoma EXACT [NCI2004_11_17:C4385] DOID:5982 kidney fibrosarcoma Fibrosarcoma of the kidney EXACT [NCI2004_11_17:C7726] DOID:5983 kidney osteogenic sarcoma A kidney sarcoma that starts in the bones and that is located_in the kidney. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1768219] renal Osteogenic sarcoma EXACT [NCI2004_11_17:C6181] DOID:5989 clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres DOID:599 specific phobia A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. [url:http\://en.wikipedia.org/wiki/Specific_phobia, url:http\://www.healthyplace.com/other-info/psychiatric-disorder-definitions/specific-simple-phobia/menu-id-71/] simple phobia EXACT [] DOID:5990 internal auditory canal meningioma meningioma of the Internal Auditory canal EXACT [NCI2004_11_17:C5307] DOID:5991 early onset breast ovarian cancer syndrome DOID:5996 blunt duct adenosis of breast DOID:5997 non-proliferative fibrocystic change of the breast Non-Proliferative Fibrocystic Change EXACT [NCI2004_11_17:C6943] DOID:5998 microglandular adenosis Adenosis of the breast EXACT [NCI2004_11_17:C3484] DOID:5999 apocrine adenosis of breast Apocrine Adenosis of the breast EXACT [NCI2004_11_17:C5198] DOID:600 animal phobia A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. [url:http\://hubpages.com/hub/list-of-animal-phobias] Zoophobia (finding) EXACT [SNOMEDCT_2005_07_31:54307006] DOID:6000 congestive heart failure A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. [url:http\://en.wikipedia.org/wiki/Heart_disease] Weak heart EXACT [MTHICD9_2006:428.9] DOID:6001 breast fibrosarcoma Fibrosarcoma of the breast EXACT [NCI2004_11_17:C5185] DOID:6003 aleukemic leukemia cutis DOID:6004 aleukemic leukemia A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. [url:http\://www.merriam-webster.com/medical/aleukemic%20leukemia] aleukemic myelosis RELATED [] DOID:6013 mediastinum embryonal carcinoma embryonal carcinoma of the mediastinum RELATED [] DOID:6014 mediastinal germ cell cancer mediastinal germ cell neoplasm EXACT [] DOID:6015 adult central nervous system teratoma teratoma of the adult central nervous system EXACT [NCI2004_11_17:C5794] DOID:6016 adult central nervous system mature teratoma DOID:6017 central nervous system mature teratoma Mature teratoma of the CNS EXACT [NCI2004_11_17:C7013] DOID:6018 adult central nervous system immature teratoma DOID:6019 central nervous system immature teratoma Immature teratoma of the CNS EXACT [NCI2004_11_17:C7014] DOID:602 cancerophobia Fear of getting cancer (finding) EXACT [SNOMEDCT_2005_07_31:34563004] DOID:6020 metastatic MPNST DOID:6021 malignant testicular Leydig cell tumor DOID:6022 central nervous system melanoma melanoma of the CNS EXACT [NCI2004_11_17:C5505] DOID:6023 metastasis to the parathyroid gland metastatic tumor to the Parathyroid EXACT [NCI2004_11_17:C8557] DOID:6024 selective IgE deficiency disease Selective immunoglobulin E deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:234540007] DOID:6025 selective immunoglobulin deficiency disease DOID:603 AIDS phobia DOID:6031 disseminated squamous cell carcinoma Disseminated squamous cell carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:300987004] DOID:6032 juvenile type testicular granulosa cell tumor Juvenile type Granulosa cell tumor EXACT [NCI2004_11_17:C4207] DOID:6033 heart fibrosarcoma Fibrosarcoma of the Heart EXACT [NCI2004_11_17:C5361] DOID:6034 heart malignant hemangiopericytoma A heart sarcoma that is a soft tissue sarcoma located in the heart. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16434949] malignant hemangiopericytoma of Heart EXACT [NCI2004_11_17:C5365] DOID:6037 spindle cell intraocular melanoma An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3] Uveal spindle cell melanoma EXACT [NCI2004_11_17:C7986] DOID:6039 uveal melanoma A uveal cancer that has_material_basis_in uvea pigment cells. [url:http\://cancergenome.nih.gov/cancersselected/UvealMelanoma, url:http\://en.wikipedia.org/wiki/Uveal_melanoma] melanoma of Uvea EXACT [NCI2004_11_17:C7712] DOID:6041 choroid spindle cell melanoma A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print] spindle cell melanoma of the Choroid EXACT [NCI2004_11_17:C6099] DOID:6043 ciliary body spindle cell melanoma A spindle intraocular melanoma that is located_in the ciliary body. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5] spindle cell melanoma of the Ciliary body EXACT [NCI2004_11_17:C6117] DOID:6045 AIDS retinopathy A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. [url:http\://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq, url:http\://www.ophthobook.com/chapters/infections] DOID:6048 telangiectatic glomangioma DOID:605 flying phobia A specific phobia that is characterized by a fear of flying. [url:http\://en.wikipedia.org/wiki/Fear_of_flying] DOID:6050 esophageal disease A gastrointestinal system disease that is located_in the esophagus. [url:http\://en.wikipedia.org/wiki/Esophageal_disease] esophageal Ulcer EXACT [NCI2004_11_17:C26950] DOID:6052 central nervous system childhood germ cell tumor pediatric germ cell neoplasm of CNS EXACT [NCI2004_11_17:C6205] DOID:6053 pediatric germ cell cancer pediatric germ cell tumor RELATED [] DOID:6054 frontal sinus Schneiderian papilloma Schneiderian papilloma of the Frontal sinus EXACT [NCI2004_11_17:C6837] DOID:6055 paranasal sinus Schneiderian papilloma Schneiderian papilloma of Accessory sinus EXACT [NCI2004_11_17:C6835] DOID:6059 nasal vestibule papilloma squamous papilloma of the nasal Vestibule EXACT [NCI2004_11_17:C4369] DOID:606 Brown-Sequard syndrome Brown-Squard syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:27982003] DOID:6065 urinary tract non-invasive transitional cell neoplasm DOID:6067 ovarian mucinous neoplasm Ovarian mucinous tumor EXACT [SNOMEDCT_2005_07_31:189683008] DOID:607 paraplegia Paraplegia, lower EXACT [MTHICD9_2006:344.1] DOID:6071 resectable duodenal carcinoma DOID:6077 localized malignant mesothelioma DOID:6078 secondary malignant neoplasm to the nervous system DOID:6079 drop secondary malignant neoplasm to the spinal cord Drop metastatic tumor to the Spinal Cord EXACT [NCI2004_11_17:C5439] DOID:6080 spinal cord secondary cancer secondary malignant neoplasm of spinal cord (disorder) EXACT [SNOMEDCT_2005_07_31:94600009] DOID:6081 childhood testicular endodermal sinus neoplasm pediatric testicular Yolk Sac tumor EXACT [NCI2004_11_17:C6543] DOID:6082 pediatric testicular germ cell tumor pediatric testicular germ cell neoplasm EXACT [NCI2004_11_17:C6552] DOID:6083 childhood ovarian endodermal sinus tumor pediatric Ovarian Yolk Sac tumor EXACT [NCI2004_11_17:C6551] DOID:6084 pediatric ovarian germ cell tumor pediatric Ovarian germ cell neoplasm EXACT [NCI2004_11_17:C8588] DOID:6085 meningeal melanoma melanoma of the leptomeninges EXACT [] DOID:6086 malignant leptomeningeal tumor malignant tumor of Leptomeninges EXACT [NCI2004_11_17:C8506] DOID:6087 predominant disturbance of emotions DOID:6088 acute stress disorder An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. [url:http\://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm] traumatic stress disorder EXACT [] DOID:6089 pediatric leptomeningeal melanoma DOID:609 skin abnormality DOID:6090 adult leptomeningeal melanoma melanoma of adult Leptomeninges EXACT [NCI2004_11_17:C5319] DOID:6091 ampulla of vater intestinal type adenocarcinoma DOID:6098 thalamic neoplasm tumor of Thalamus EXACT [NCI2004_11_17:C6221] DOID:61 mitral valve disease Rheumatic mitral valve regurgitation EXACT [MTHICD9_2006:394.1] DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma DOID:6102 herpetic gastritis A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1063088] DOID:6103 thoracic spinal canal and spinal cord meningioma meningioma of the Thoracic Spinal canal and Spinal Cord EXACT [NCI2004_11_17:C5297] DOID:6104 mixed embryonal carcinoma and teratoma of the mediastinum Teratocarcinoma of mediastinum EXACT [NCI2004_11_17:C6442] DOID:6105 mediastinum malignant teratoma malignant teratoma of mediastinum (disorder) EXACT [SNOMEDCT_2005_07_31:278042005] DOID:6107 mediastinal mixed non-seminomatous germ cell tumor mixed Non-Seminomatous germ cell tumor of mediastinum EXACT [NCI2004_11_17:C6444] DOID:6108 mesenchymal hamartoma of the liver mesenchymal hamartoma of Liver EXACT [NCI2004_11_17:C5751] DOID:6109 hepatic and intrahepatic bile duct non-epithelial neoplasm DOID:611 leukocyte-adhesion deficiency syndrome DOID:6110 jugular foramen meningioma meningioma of the Jugular Foramen EXACT [NCI2004_11_17:C5293] DOID:6111 jugular foramen neoplasm tumor of Jugular Foramen EXACT [NCI2004_11_17:C5589] DOID:6112 cerebral meningioma meningioma of Cerebrum EXACT [NCI2004_11_17:C4807] DOID:6113 intracerebral cystic meningioma DOID:6114 cerebral convexity meningioma Cerebral Hemispheric Convexity meningioma EXACT [NCI2004_11_17:C4959] DOID:6115 lateral ventricle meningioma meningioma of the Lateral Ventricle EXACT [NCI2004_11_17:C5302] DOID:6118 renal pelvis inverted papilloma Inverted papilloma of the kidney Pelvis EXACT [NCI2004_11_17:C6187] DOID:6119 renal pelvis urothelial papilloma DOID:612 primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. [url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases] immunodeficiency syndrome EXACT [NCI2004_11_17:C3131] DOID:6122 AIDS-related anal cancer An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. [url:http\://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm] DOID:6126 anal canal carcinoma An anal canal cancer that derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp] carcinoma of anal canal (disorder) EXACT [SNOMEDCT_2005_07_31:285310000] DOID:6128 gliomatosis cerebri Gliomatosis cerebri (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:26138003] DOID:613 T lymphocyte deficiency T-lymphocyte immunodeficiency (disorder) EXACT [SNOMEDCT_2005_07_31:402792003] DOID:6132 bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html, url:http\://www.nlm.nih.gov/medlineplus/bronchitis.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis] recurrent wheezy bronchitis EXACT [SNOMEDCT_2005_07_31:195936003] DOID:6139 uterine corpus epithelioid leiomyosarcoma DOID:614 lymphopenia A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. [url:http\://en.wikipedia.org/wiki/Lymphopenia] Lymphocytopenia EXACT [MTHICD9_2006:288.8] DOID:6148 nasal cavity carcinoma in situ stage 0 carcinoma of the nasal cavity EXACT [NCI2004_11_17:C4589] DOID:615 leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. [url:http\://en.wikipedia.org/wiki/Leukopenia] Leucopenia EXACT [SNOMEDCT_2005_07_31:191348003] DOID:616 Deltaretrovirus infectious disease A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. [url:http\://www.expasy.org/viralzone/all_by_species/91.html] DOID:6160 childhood choriocarcinoma of the testis pediatric testicular Choriocarcinoma EXACT [NCI2004_11_17:C6544] DOID:6161 childhood testicular mixed germ cell tumor pediatric testicular mixed germ cell tumor EXACT [NCI2004_11_17:C6542] DOID:6162 childhood embryonal testis carcinoma An embryonal testis carcinoma that occurs in children. [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma] pediatric testicular Embryonal carcinoma EXACT [NCI2004_11_17:C6545] DOID:6163 familial renal papillary carcinoma Hereditary Papillary renal carcinoma EXACT [NCI2004_11_17:C9222] DOID:6166 prostatic urethra urothelial carcinoma DOID:6167 prostatic urethral cancer DOID:617 Retroviridae infectious disease A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. [url:http\://en.wikipedia.org/wiki/Retroviridae] Retroviridae disease EXACT [CSP2005:3100-1695] DOID:6170 ovarian carcinosarcoma Ovarian MMMT EXACT [NCI2004_11_17:C9192] DOID:6171 uterine carcinosarcoma A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. [url:http\://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma, url:http\://en.wikipedia.org/wiki/Carcinosarcoma] mixed mullerian sarcoma of uterus EXACT [NCI2004_11_17:C9180] DOID:6174 sporadic conventional renal cell carcinoma DOID:6175 mediastinal neurilemmoma Schwannoma of mediastinum EXACT [NCI2004_11_17:C6643] DOID:6178 metastatic ovarian small cell carcinoma with hypercalcemia DOID:6179 ovarian small cell carcinoma DOID:6180 Cytomegalovirus gastritis A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh] CMV-Related Gastritis EXACT [NCI2004_11_17:C27217] DOID:6184 squamous cell carcinoma of unknown primary DOID:619 lymphoproliferative disease Duncan's syndrome EXACT [SNOMEDCT_2005_07_31:77121009] DOID:6190 rectum Kaposi's sarcoma A sarcoma of the rectum that results_in lesions that are located_in the rectum. [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp] rectum Kaposi sarcoma EXACT [] DOID:6192 inflammatory MFH Xanthosarcoma EXACT [NCI2004_11_17:C6497] DOID:6193 epithelioid sarcoma epithelioid sarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:59238007] DOID:6195 conjunctivitis A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. [url:http\://en.wikipedia.org/wiki/Conjunctivitis, url:http\://www.merck.com/mmhe/sec20/ch229/ch229b.html#sec20-ch229-ch229b-216] Madras eye RELATED [] DOID:6196 reactive arthritis An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. [url:http\://emedicine.medscape.com/article/331347-overview, url:http\://en.wikipedia.org/wiki/Reactive_arthritis, url:http\://www.about-reactive-arthritis.com/, url:http\://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000440.htm] Reiter's disease EXACT [ICD9CM_2006:099.3, SNOMEDCT_2005_07_31:154390002] DOID:6197 conventional malignant hemangiopericytoma DOID:6198 corneal intraepithelial neoplasm DOID:6199 cornea cancer neoplasm of cornea (disorder) EXACT [SNOMEDCT_2005_07_31:126997008] DOID:62 aortic valve disease DOID:620 blood protein disease blood protein disorder EXACT [CSP2005:0449-0541] DOID:6200 recurrent malignant pericardial mesothelioma DOID:6201 pericardial mesothelioma malignant Pericardial Mesothelioma EXACT [NCI2004_11_17:C7631] DOID:6202 mesothelioma malignant recurrent relapsed malignant Mesothelioma EXACT [NCI2004_11_17:C7866] DOID:6203 thyroid hyalinizing trabecular adenoma PLAT EXACT [NCI2004_11_17:C6846] DOID:6204 follicular adenoma Thyroid follicular adenoma (disorder) EXACT [SNOMEDCT_2005_07_31:255034006] DOID:6208 mediastinal osteogenic sarcoma Osteosarcoma of mediastinum EXACT [NCI2004_11_17:C6615] DOID:6209 malignant mediastinum hemangiopericytoma A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. [url:http\://wjso.com/content/4/1/23] malignant hemangiopericytoma of mediastinum EXACT [NCI2004_11_17:C6608] DOID:621 simian acquired immunodeficiency syndrome A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. [url:http\://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf] simian lymphoproliferative syndrome EXACT [CSP2005:3131-3700] DOID:6210 bladder diffuse clear cell adenocarcinoma DOID:6211 mixed epithelial tumor of ovary Ovarian mixed epithelial tumor EXACT [NCI2004_11_17:C4508] DOID:6212 ovarian endometrial cancer An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. [url:http\://en.wikipedia.org/wiki/Endometrial_cancer] ovarian endometrioid neoplasm EXACT [] DOID:6213 ovarian serous tumor serous tumor of Ovary EXACT [NCI2004_11_17:C8431] DOID:6214 ovarian papillary neoplasm Papillary tumor of Ovary EXACT [NCI2004_11_17:C8430] DOID:6217 gastric diffuse adenocarcinoma diffuse type carcinoma EXACT [] DOID:622 Lentivirus infectious disease A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. [url:http\://www.expasy.ch/viralzone/all_by_species/264.html] Lentivirus disease EXACT [CSP2005:3100-1695] DOID:6225 Cronkhite-Canada syndrome gastric Cronkhite Canada polyposis EXACT [] DOID:6227 articular cartilage disease Articular cartilage disorder of upper arm (disorder) EXACT [SNOMEDCT_2005_07_31:9051008] DOID:6228 peritoneal serous papillary adenocarcinoma primary serous papillary carcinoma of peritoneum EXACT [SNOMEDCT_2005_07_31:15674004] DOID:6229 childhood mature teratoma of the ovary pediatric Mature teratoma of Ovary EXACT [NCI2004_11_17:C6548] DOID:6230 childhood teratoma of the ovary pediatric teratoma of Ovary EXACT [NCI2004_11_17:C6554] DOID:6231 mature teratoma of the ovary Mature teratoma of Ovary EXACT [NCI2004_11_17:C8112] DOID:6232 ovarian biphasic or triphasic teratoma DOID:6239 non-invasive bladder papillary urothelial neoplasm Papillary urothelial neoplasm of low malignant potential EXACT [SNOMEDCT_2005_07_31:128625004] DOID:624 transient hypogammaglobulinemia of infancy Transient hypogammaglobulinemia of infancy (disorder) EXACT [SNOMEDCT_2005_07_31:88714009] DOID:6240 transitional cell intraepithelial neoplasm DOID:6244 familial renal oncocytoma DOID:6245 renal oncocytoma renal epithelial Oncocytic tumor EXACT [NCI2004_11_17:C4526] DOID:6246 oncocytic neoplasm Oncocytic tumor EXACT [NCI2004_11_17:C7072] DOID:6249 mediastinum seminoma Seminoma of mediastinum EXACT [NCI2004_11_17:C6812] DOID:625 transient hypogammaglobulinemia DOID:6250 Epstein-Barr virus related carcinoma An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. [url:http\://www.diagnosticpathology.org/content/2/1/25] EBV Related carcinoma EXACT [NCI2004_11_17:C27690] DOID:6255 growth hormone secreting pituitary adenoma Somatotroph adenoma (disorder) EXACT [SNOMEDCT_2005_07_31:254957009] DOID:6256 malignant growth hormone secreting neoplasm of pituitary malignant Somatotropinoma EXACT [NCI2004_11_17:C5963] DOID:6257 chromophil adenoma of the kidney Papillary adenoma of the kidney EXACT [NCI2004_11_17:C3687] DOID:6258 type 1 papillary adenoma of the kidney DOID:6259 type 2 papillary adenoma of the kidney DOID:626 complement deficiency A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. [url:http\://en.wikipedia.org/wiki/Complement_deficiency, url:http\://www.primaryimmune.org/publications/book_pats/e_ch01.pdf] Complement deficiency disease (disorder) EXACT [SNOMEDCT_2005_07_31:24743004] DOID:6262 follicular dendritic cell sarcoma A dendritic cell sarcoma cancer that effects the follicular dendritic cells. [url:http\://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma] Follicular dendritic cell tumour EXACT [SNOMEDCT_2005_07_31:128816008] DOID:6263 inflammatory breast carcinoma Mastitis carcinomatosa EXACT [NCI2004_11_17:C4001] DOID:6268 recurrent extraskeletal chondrosarcoma relapsed extraskeletal chondrosarcoma EXACT [NCI2004_11_17:C8807] DOID:627 severe combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. [url:http\://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency, url:http\://www.scid.net/] Severe combined immunodeficiency disease (disorder) EXACT [SNOMEDCT_2005_07_31:31323000] DOID:6270 gastric cardia carcinoma carcinoma of Cardia of stomach EXACT [NCI2004_11_17:C6794] DOID:6271 gastric cardia adenocarcinoma adenocarcinoma of gastric cardia RELATED [] DOID:6273 metastasis to pituitary gland DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland malignant Thyrotropinoma EXACT [NCI2004_11_17:C5965] DOID:6275 TSH producing pituitary tumor TSH Secreting tumor of Pituitary EXACT [NCI2004_11_17:C7915] DOID:6276 malignant ACTH producing neoplasm of pituitary gland malignant Corticotropinoma of the Pituitary EXACT [NCI2004_11_17:C5964] DOID:6277 ACTH-producing pituitary tumor Pituitary Corticotropin Secreting tumor EXACT [NCI2004_11_17:C7909] DOID:6278 ovarian mucinous malignant adenofibroma DOID:628 combined T cell and B cell immunodeficiency A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. [url:http\://en.wikipedia.org/wiki/Combined_immunodeficiencies, url:http\://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1] X-linked combined immunodeficiency EXACT [] DOID:6284 epicardium lipoma Lipoma of Epicardium EXACT [NCI2004_11_17:C6742] DOID:6285 heart lipoma Lipoma of Heart EXACT [NCI2004_11_17:C6741] DOID:6286 childhood cerebellar astrocytic neoplasm pediatric astrocytoma of Cerebellum EXACT [NCI2004_11_17:C6286] DOID:6287 recurrent pediatric cerebellar astrocytoma relapsed pediatric astrocytoma of Cerebellum EXACT [NCI2004_11_17:C8389] DOID:6288 recurrent childhood brain tumor relapsed tumor of pediatric brain EXACT [NCI2004_11_17:C7834] DOID:629 congenital disorder of natural immunity DOID:6291 cerebral hemisphere lipoma Lipoma of the Cerebral Hemisphere EXACT [NCI2004_11_17:C6220] DOID:6292 intracranial lipoma DOID:6293 central nervous system lipoma Lipoma of the CNS EXACT [NCI2004_11_17:C5451] DOID:6294 corpus callosum lipoma Lipoma of the Corpus Callosum EXACT [NCI2004_11_17:C5438] DOID:6296 Herpes simplex virus esophagitis A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000646.htm] herpes simplex esophagitis EXACT [] DOID:6297 viral esophagitis Viral esophagitis (disorder) EXACT [SNOMEDCT_2005_07_31:235603003] DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome. [url:http\://ghr.nlm.nih.gov/] DOID:6301 prostate basal cell carcinoma basal cell carcinoma of the prostate RELATED [] DOID:6307 ectopic thymus DOID:6308 metastatic transitional cell cancer of the renal pelvis and ureter metastatic Urothelial carcinoma of the renal Pelvis and Ureter EXACT [NCI2004_11_17:C8064] DOID:631 fibromyalgia DOID:6312 clivus chordoma A chordoma of skull base that is located in the clivus. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/] Chordoma of Clivus EXACT [NCI2004_11_17:C5412] DOID:6313 clivus chondroid chordoma A chondroid chordoma and chordoma of the clivus that is located_in the clivus. [url:http\://emedicine.medscape.com/article/1263740-overview] Chondroid Chordoma of the Clivus EXACT [NCI2004_11_17:C5426] DOID:6314 ovarian fetiform teratoma DOID:6315 ovarian solid teratoma DOID:6316 Bartholin's gland adenocarcinoma Bartholin gland adenocarcinoma EXACT [] DOID:6322 tibial adamantinoma An adamantinoma of long bone that is located_in the tibia. [url:http\://emedicine.medscape.com/article/385977-overview] Tibial adamantinoma morphology EXACT [SNOMEDCT_2005_07_31:210233007] DOID:6327 ovarian dermoid cyst with adenocarcinoma DOID:6328 ovarian dermoid cyst with secondary carcinoma DOID:6329 ovarian dermoid cyst with secondary tumor DOID:633 myositis A myopathy characterized by muscle inflammation. [url:http\://www.nlm.nih.gov/medlineplus/myositis.html, url:https\://en.wikipedia.org/wiki/Myositis] Inflammatory disorder of muscle (disorder) EXACT [SNOMEDCT_2005_07_31:128496001] DOID:6331 immature teratoma of ovary malignant teratoma of Ovary EXACT [NCI2004_11_17:C8111] DOID:6332 adult malignant hemangiopericytoma DOID:6333 adult intracranial malignant hemangiopericytoma adult malignant intracranial hemangiopericytoma EXACT [NCI2004_11_17:C9183] DOID:6334 anterior optic tract meningioma DOID:6335 bilateral meningioma of optic nerve Bilateral meningioma of the optic nerve EXACT [NCI2004_11_17:C5304] DOID:6337 cerebellopontine angle meningioma meningioma of the Cerebellar Pontine Angle EXACT [NCI2004_11_17:C5300] DOID:6338 testicular tumor of the thecoma fibroma group DOID:6339 vulvar eccrine adenocarcinoma DOID:6344 melanocytic psammomatous MPNST DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath Melanotic malignant peripheral nerve sheath tumour EXACT [SNOMEDCT_2005_07_31:253095007] DOID:635 acquired immunodeficiency syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. [url:http\://en.wikipedia.org/wiki/AIDS, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids] AIDS EXACT [] DOID:6354 CLL/SLL A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. [url:http\://www.cancer.gov/dictionary?CdrID=641291] chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:399607007] DOID:636 central pontine myelinolysis central pontine myelinosis EXACT [MTHICD9_2006:341.8] DOID:6361 renal cell carcinoma with constitutional chromosome 3 translocations DOID:6364 migraine A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.com/health/migraine-headache/DS00120] migraine with or without aura EXACT [] DOID:6367 acral lentiginous melanoma A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. [url:http\://en.wikipedia.org/wiki/Acral_lentiginous_melanoma, url:http\://en.wikipedia.org/wiki/Lentigo, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/] malignant acral lentiginous melanoma EXACT [SNOMEDCT_2005_07_31:189755003] DOID:637 metabolic brain disease Metabolic encephalopathy (disorder) EXACT [SNOMEDCT_2005_07_31:50122000] DOID:6370 hepatic osteogenic sarcoma Osteosarcoma of Liver EXACT [NCI2004_11_17:C5833] DOID:6376 hypersplenism hypersplenism (disorder) EXACT [SNOMEDCT_2005_07_31:58381000] DOID:6379 diffuse meningeal melanocytosis Diffuse Melanosis EXACT [NCI2004_11_17:C6890] DOID:638 demyelinating disease of central nervous system DOID:6381 anterior foramen magnum meningioma meningioma of the Anterior Foramen Magnum EXACT [NCI2004_11_17:C5281] DOID:6382 recurrent childhood glioma of brain stem relapsed pediatric glioma of Brainstem EXACT [NCI2004_11_17:C9190] DOID:6383 childhood brain stem glioma pediatric glioma of the Brainstem EXACT [NCI2004_11_17:C9042] DOID:6384 recurrent childhood central nervous system tumor DOID:6385 recurrent childhood brainstem astrocytoma DOID:6386 childhood brainstem astrocytoma DOID:639 acute disseminated encephalomyelitis An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis, url:http\://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm] ADEM EXACT [ICD9CM:323.61] DOID:64 epithelial tissue disease DOID:640 encephalomyelitis Encephalitis &/or myelitis EXACT [SNOMEDCT_2005_07_31:267682000] DOID:6404 metanephric adenoma Metanephric adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128670007] DOID:6405 ovarian papillary cystadenoma DOID:6406 double outlet right ventricle Taussig-Bing syndrome or defect EXACT [MTHICD9_2006:745.11] DOID:6407 ovarian surface papilloma DOID:6408 ovary papillary carcinoma serous Surface Papillary carcinoma of Ovary EXACT [NCI2004_11_17:C6256] DOID:641 CNS demyelinating autoimmune disease DOID:6419 tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle EXACT [MTHICD9_2006:745.2] DOID:642 demyelinating encephalopathy DOID:6420 pulmonary valve stenosis DOID:6423 childhood central nervous system mature teratoma DOID:6424 pediatric CNS teratoma pediatric teratoma of central nervous system EXACT [NCI2004_11_17:C6204] DOID:6425 eyelid carcinoma carcinoma of the eyelid EXACT [NCI2004_11_17:C6078] DOID:6428 cervical adenoid basal carcinoma DOID:643 progressive multifocal leukoencephalopathy A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. [url:http\://www.merck.com/mmpe/sec16/ch217/ch217f.html, url:http\://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy, url:http\://www.ninds.nih.gov/disorders/pml/pml.htm] PML RELATED [CSP2005:2042-2309] DOID:6432 pulmonary hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. [PMID:19555858, url:https\://en.wikipedia.org/wiki/Pulmonary_hypertension] DOID:6438 malignant choroid melanoma melanoma of the Choroid EXACT [NCI2004_11_17:C4561] DOID:644 leukoencephalopathy Leukoencephalopathy (disorder) EXACT [SNOMEDCT_2005_07_31:22811006] DOID:6445 ovarian endometrioid malignant adenofibroma DOID:6446 ceruminous carcinoma Ceruminous adenocarcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:58069009] DOID:6447 ceruminous tumor DOID:6448 vulvar apocrine adenocarcinoma DOID:6451 central nervous system fibrosarcoma Fibrosarcoma of the CNS EXACT [NCI2004_11_17:C5465] DOID:6457 Cowden disease An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. [url:http\://en.wikipedia.org/wiki/Cowden_syndrome, url:http\://ghr.nlm.nih.gov/condition/cowden-syndrome, url:http\://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1] multiple hamartoma syndrome RELATED [] DOID:6458 cerebellar liponeurocytoma Lipomatous Medulloblastoma EXACT [NCI2004_11_17:C6905] DOID:6459 lipoma of the rectum Lipoma of rectum EXACT [NCI2004_11_17:C5551] DOID:646 viral encephalitis An encephalitis that involves inflammation of the brain caused by viral infection. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14978145] Viral encephalitis NOS EXACT [SNOMEDCT_2005_07_31:186503001] DOID:6460 large intestine lipoma Lipoma of large Intestine EXACT [NCI2004_11_17:C5678] DOID:6467 bone recurrent Ewing's sarcoma relapsed Skeletal Ewing's sarcoma EXACT [NCI2004_11_17:C6622] DOID:6468 mucinous cystadenofibroma DOID:6469 ovarian mucinous adenofibroma DOID:647 Polyomavirus infectious disease A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. [url:http\://en.wikipedia.org/wiki/Polyomavirus] DOID:6474 childhood teratocarcinoma of the testis pediatric testicular Teratocarcinoma EXACT [NCI2004_11_17:C6539] DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6477 invasive bladder transitional cell carcinoma Invasive bladder Urothelial carcinoma EXACT [NCI2004_11_17:C27885] DOID:648 kuru kuru encephalopathy EXACT [] DOID:6481 bladder signet ring cell adenocarcinoma urinary bladder Signet Ring adenocarcinoma EXACT [NCI2004_11_17:C6163] DOID:6482 lung acinar adenocarcinoma acinar adenocarcinoma of the lung EXACT [NCI2004_11_17:C5649] DOID:6483 rete testis adenoma DOID:6484 mediastinal melanocytic neurilemmoma melanocytic Schwannoma of mediastinum EXACT [NCI2004_11_17:C6635] DOID:6488 metastatic tumor to the iris DOID:6489 periosteal osteogenic sarcoma Periosteal osteosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128772005] DOID:649 prion disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. [url:http\://en.wikipedia.org/wiki/Prion, url:http\://www.cdc.gov/ncidod/dvrd/prions/, url:http\://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/prion_diseases_134\,56/] transmissible spongiform encephalopathy EXACT [] DOID:6491 breast capillary hemangioma Capillary Angioma of breast EXACT [NCI2004_11_17:C5210] DOID:6492 breast epithelioid hemangioma breast Histiocytoid hemangioma EXACT [NCI2004_11_17:C5211] DOID:6494 pediatric myxoid chondrosarcoma DOID:6495 adult myxoid chondrosarcoma An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970409-0] DOID:6496 extraskeletal myxoid chondrosarcoma An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. [url:http\://en.wikipedia.org/wiki/Chondrosarcoma, url:http\://en.wikipedia.org/wiki/Myxoid_chondrosarcoma, url:http\://en.wikipedia.org/wiki/Myxoid_tumor, url:http\://www.ncbi.nlm.nih.gov/pubmed/10564384] Myxoid extraosseous chondrosarcoma EXACT [NCI2004_11_17:C27502] DOID:6498 seborrheic keratosis DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] disorder of connective tissue EXACT [SNOMEDCT_2005_07_31:105969002] DOID:6500 cerebellar angioblastoma Hemangioblastoma of Cerebellum EXACT [NCI2004_11_17:C5146] DOID:6501 brain stem angioblastoma Hemangioblastoma of Brainstem EXACT [NCI2004_11_17:C5147] DOID:6505 vaginal spindle cell epithelioma DOID:6506 anaplastic seminoma testicular Seminoma with High Mitotic Index EXACT [NCI2004_11_17:C39920] DOID:6510 lung occult squamous cell carcinoma Occult squamous cell carcinoma of the lung EXACT [NCI2004_11_17:C6686] DOID:6511 glandular pattern ovarian yolk sac tumor DOID:6512 hepatoid pattern ovarian yolk sac tumor DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor DOID:6517 clivus meningioma meningioma of the Clivus EXACT [NCI2004_11_17:C5289] DOID:6518 Bartholin's gland adenomyoma Bartholin gland adenomyoma EXACT [] DOID:652 congenital musculoskeletal abnormality Skeletal anomaly-congen EXACT [SNOMEDCT_2005_07_31:268336000] DOID:6522 mixed cell uveal melanoma DOID:6523 ciliary body mixed cell melanoma DOID:6524 malignant ciliary body melanoma melanoma of the Ciliary body EXACT [NCI2004_11_17:C4558] DOID:6525 choroid mixed cell melanoma DOID:653 purine-pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism] inborn errors of purine-pyrimidine metabolism EXACT [] DOID:6530 cortical thymoma Thymoma, cortical EXACT [SNOMEDCT_2005_07_31:128713007] DOID:6532 monomorphic B-cell PTLD DOID:6533 monomorphic PTLD DOID:6535 plasma cell PTLD DOID:6536 plasma cell neoplasm Plasmacytic tumor EXACT [NCI2004_11_17:C4665] DOID:654 overnutrition DOID:6540 transient organic mental disorder DOID:6543 acne A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. [url:http\://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance] frontalis acne EXACT [] DOID:6544 atypical meningioma Atypical meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128914005] DOID:6545 adult atypical meningioma DOID:6546 secondary cardiac lymphoma secondary Heart Lymphoma EXACT [NCI2004_11_17:C5369] DOID:6547 heart lymphoma Lymphoma of Heart EXACT [NCI2004_11_17:C5368] DOID:6548 angiomatous meningioma Angiomatous meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:73918009] DOID:6549 schistosoma hematobium-related bladder verrucous squamous cell carcinoma DOID:655 inherited metabolic disorder A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659] Metabolic hereditary disorder EXACT [SNOMEDCT_2005_07_31:363205007] DOID:6552 gastric small cell carcinoma small cell carcinoma of stomach EXACT [NCI2004_11_17:C6764] DOID:6553 posterior foramen magnum meningioma meningioma of the Posterior Foramen Magnum EXACT [NCI2004_11_17:C5282] DOID:6554 ovarian clear cell malignant adenofibroma DOID:6556 hamartoma of Spinal Cord hamartoma of the Spinal Cord EXACT [NCI2004_11_17:C6815] DOID:6559 ethmoid sinus Schneiderian papilloma Schneiderian papilloma of the ethmoid sinus EXACT [NCI2004_11_17:C6836] DOID:656 adrenal adenoma An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. [url:http\://en.wikipedia.org/wiki/Adrenal_adenoma] adenoma of the Adrenal gland EXACT [NCI2004_11_17:C3906] DOID:6562 ethmoid sinus inverted papilloma Inverted papilloma of the ethmoid sinus EXACT [NCI2004_11_17:C6843] DOID:6563 metastatic testicular cancer DOID:6564 neurilemmoma of the pleura Schwannoma of Pleura EXACT [NCI2004_11_17:C5418] DOID:6566 posterior uveal melanoma small size posterior uveal melanoma EXACT [] DOID:6567 uterine corpus myxoid leiomyosarcoma DOID:6569 micropapillomatosis labialis DOID:657 adenoma A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. [url:http\://coloncancer.about.com/od/glossaries/g/Adenoma.htm, url:http\://en.wikipedia.org/wiki/Adenoma] adenomas EXACT [SNOMEDCT_2005_07_31:189578007] DOID:6571 non-invasive bladder urothelial carcinoma DOID:6573 recurrent adult brain tumor relapsed tumor of adult brain EXACT [NCI2004_11_17:C7884] DOID:6574 Borderline malignancy papillary mucinous cystadenoma Papillary mucinous neoplasm of Low malignant Potential EXACT [NCI2004_11_17:C4186] DOID:6575 childhood optic tract astrocytoma pediatric visual pathway astrocytoma EXACT [NCI2004_11_17:C7534] DOID:6576 childhood optic nerve glioma glioma of the pediatric visual pathway EXACT [NCI2004_11_17:C7535] DOID:6577 ovarian dermoid cyst with sebaceous adenoma DOID:6578 ovarian dermoid cyst with secondary sebaceous tumor DOID:6579 chest wall bone cancer A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. [url:http\://www.ncbi.nlm.nih.gov/pubmed/10451260] malignant bone tumor of the Chest Wall EXACT [NCI2004_11_17:C6724] DOID:6581 breast apocrine carcinoma breast Apocrine carcinoma EXACT [NCI2004_11_17:C5141] DOID:6585 oncocytic breast carcinoma DOID:6587 invasive tubular breast carcinoma tubular carcinoma of breast EXACT [] DOID:6590 spondylitis DOID:6594 bladder colonic type adenocarcinoma DOID:6595 gastric tubular adenocarcinoma tubular adenocarcinoma of stomach EXACT [NCI2004_11_17:C5473] DOID:66 muscle tissue disease DOID:660 adrenal cortex cancer neoplasm of adrenal cortex (disorder) EXACT [SNOMEDCT_2005_07_31:127022002] DOID:6602 recurrent malignant peritoneal mesothelioma relapsed malignant Mesothelioma of Peritoneum EXACT [NCI2004_11_17:C8705] DOID:6603 Kummell's disease Traumatic spondylopathy EXACT [ICD9CM_2006:721.7] DOID:6604 spondylosis and allied disorder Thoracic spondylosis without myelopathy (disorder) EXACT [SNOMEDCT_2005_07_31:267971005] DOID:6605 classic variant of chromophobe renal cell carcinoma DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma DOID:6607 nervous system hibernoma Hibernoma of nervous system EXACT [NCI2004_11_17:C6997] DOID:6608 endobronchial leiomyoma DOID:6609 basaloid squamous cell carcinoma of the head and neck Basaloid squamous cell carcinoma of head and neck EXACT [NCI2004_11_17:C37290] DOID:6610 bone epithelioid hemangioma osseous hemangioma EXACT [NCI2004_11_17:C6477] DOID:6612 leukocyte adhesion deficiency Congenital leukocyte adherence deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:77358003] DOID:6613 vaginal villous adenoma DOID:6618 unknown primary adenocarcinoma adenocarcinoma of unknown primary RELATED [] DOID:6620 X-linked hyper IgM syndrome hyperimmunoglobulin M syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:82286005] DOID:6621 cerebral angioma hemangioma of Cerebrum EXACT [NCI2004_11_17:C5433] DOID:6627 cervical adenoma malignum DOID:6628 malignant neoplasm of nipple malignant tumor of Nipple EXACT [NCI2004_11_17:C5213] DOID:6629 nipple carcinoma A breast carcinoma that is located_in the nipple. [url:http\://www.cancer.gov/dictionary?CdrID=45963] DOID:663 scrotal angioma hemangioma of scrotum EXACT [NCI2004_11_17:C6387] DOID:6630 ovarian dermoid cyst with secondary sarcoma DOID:6631 ovarian dermoid cyst with leiomyosarcoma DOID:6632 ovarian dermoid cyst with angiosarcoma DOID:6634 adult central nervous system choriocarcinoma Choriocarcinoma of the adult central nervous system EXACT [NCI2004_11_17:C5793] DOID:6639 pediatric CNS choriocarcinoma Choriocarcinoma of the pediatric central nervous system EXACT [NCI2004_11_17:C6206] DOID:664 angiokeratoma of Fordyce Fordyce-type Angiokeratoma of scrotum EXACT [NCI2004_11_17:C7752] DOID:6641 breast juvenile papillomatosis Juvenile papillomatosis of the breast EXACT [NCI2004_11_17:C9503] DOID:6643 Baastrup's syndrome Kissing spine (disorder) EXACT [SNOMEDCT_2005_07_31:82304009] DOID:6648 adult pineoblastoma DOID:6652 diffuse idiopathic skeletal hyperostosis A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. [url:http\://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740] Forestier disease RELATED [] DOID:6654 childhood central nervous system immature teratoma DOID:6657 breast large cell neuroendocrine carcinoma DOID:6658 pulmonary large cell neuroendocrine carcinoma DOID:6659 cervical large cell neuroendocrine carcinoma DOID:6663 papillotubular adenocarcinoma Tubulopapillary adenocarcinoma EXACT [SNOMEDCT_2005_07_31:5658009] DOID:6667 regressing nevus regressing naevus EXACT [SNOMEDCT_2005_07_31:307602007] DOID:6675 menopausal syndrome MENOPAUSE SYNDROME EXACT [MTH:479] DOID:6676 Froelich's syndrome A syndrome characterized by a combination of obesity, retarded development of the sex glands, and changes in secondary sex characteristics that results from impaired function or disease of the pituitary gland and hypothalamus. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adiposogenital%20dystrophy] Frohlich's syndrome EXACT [NCI2004_11_17:C34625] DOID:6677 diffuse infiltrative lymphocytosis syndrome A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. [url:http\://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/21295898] DOID:6678 tooth and nail syndrome A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome] Witkop's syndrome EXACT [SNOMEDCT_2005_07_31:68897000] DOID:668 myositis ossificans A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. [url:http\://en.wikipedia.org/wiki/Myositis_ossificans, url:http\://www.merriam-webster.com/medlineplus/myositis] Ossification - muscle EXACT [SNOMEDCT_2005_07_31:203030008] DOID:6680 Capgras syndrome A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. [url:http\://en.wikipedia.org/wiki/Capgras_delusion] Capgras delusion theory EXACT [] DOID:6681 diffuse leiomyomatosis syndrome DOID:6682 spondylolisthesis A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. [url:http\://en.wikipedia.org/wiki/Spondylolisthesis, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00053, url:http\://www.medicinenet.com/spondylolisthesis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001260.htm, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm] DOID:6683 Aarskog-Scott syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001654.htm] Greig's syndrome EXACT [NCI2004_11_17:C35255] DOID:6686 Achard syndrome A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. [url:http\://en.wikipedia.org/wiki/Achard_syndrome] DOID:6687 Achenbach syndrome Paroxysmal hematoma of the finger (disorder) EXACT [SNOMEDCT_2005_07_31:238824006] DOID:6688 autoimmune lymphoproliferative syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. [url:http\://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome] Canale-Smith syndrome EXACT [] DOID:6689 adherence syndrome Fat adherence syndrome of extraocular muscle (disorder) EXACT [SNOMEDCT_2005_07_31:416236009] DOID:6690 acroparesthesia syndrome DOID:6691 Aagenaes syndrome A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. [url:http\://en.wikipedia.org/wiki/Aagenaes_syndrome] Cholestasis-edema syndrome, Norwegian type (disorder) EXACT [SNOMEDCT_2005_07_31:28724005] DOID:6692 Barre-Lieou syndrome A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/] Posterior cervical sympathetic syndrome EXACT [MTHICD9_2006:723.2] DOID:6693 testicular monophasic choriocarcinoma DOID:6696 synchronous multifocal osteogenic sarcoma DOID:6697 asynchronous multifocal osteogenic sarcoma DOID:67 neural tissue disease nervous tissue disease EXACT [] DOID:670 amphetamine abuse A substance abuse that involves the recurring use of amphetamines despite negative consequences. [url:http\://en.wikipedia.org/wiki/Amphetamine_Abuse] DOID:6700 gastric fundus carcinoma carcinoma of fundus of stomach (disorder) EXACT [SNOMEDCT_2005_07_31:254555008] DOID:6702 recurrent stomach cancer recurrent gastric cancer EXACT [MTH:NOCODE] DOID:6703 gastric pylorus carcinoma carcinoma of Pylorus of stomach EXACT [NCI2004_11_17:C6795] DOID:6704 anaplastic gastric carcinoma Undifferentiated carcinoma of stomach EXACT [NCI2004_11_17:C5476] DOID:6705 gastric body carcinoma carcinoma of body of stomach (disorder) EXACT [SNOMEDCT_2005_07_31:254557000] DOID:6706 tubular variant testicular seminoma DOID:6707 malignant triton tumor MPNST with Rhabdomyosarcoma EXACT [NCI2004_11_17:C4335] DOID:6708 recurrent ovarian epithelial cancer relapsed carcinoma of Ovary EXACT [NCI2004_11_17:C7833] DOID:6710 metastatic anal cancer secondary carcinoma from the anus EXACT [NCI2004_11_17:C5612] DOID:6712 anterior spinal artery syndrome Anterior spinal artery occlusion syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:2972007] DOID:6713 cerebrovascular disease An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. [url:http\://en.wikipedia.org/wiki/Cerebrovascular_disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK378/] stroke EXACT [] DOID:6714 circumscribed storiform collagenoma Circumscribed storiform collagenoma (disorder) EXACT [SNOMEDCT_2005_07_31:239137003] DOID:6715 collagen nevus of skin Collagen nevus of skin (disorder) EXACT [SNOMEDCT_2005_07_31:399926001] DOID:6716 eruptive collagenoma Eruptive collagenoma (disorder) EXACT [SNOMEDCT_2005_07_31:239138008] DOID:672 spleen cancer A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. [url:http\://www.wrongdiagnosis.com/s/spleen_cancer/intro.htm] Splenic neoplasm EXACT [NCI2004_11_17:C3383] DOID:6721 littre gland carcinoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. [url:http\://en.wikipedia.org/wiki/Urethral_gland] DOID:6723 malignant type AB thymoma Thymoma, mixed type, malignant EXACT [SNOMEDCT_2005_07_31:128710005] DOID:6725 spinal stenosis A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. [url:http\://en.wikipedia.org/wiki/Spinal_stenosis, url:http\://www.mayoclinic.com/health/spinal-stenosis/DS00515, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000441.htm, url:http\://www.spinalstenosis.org/] Spinal stenosis of lumbar region EXACT [ICD9CM_2006:724.02] DOID:6726 fibrillary astrocytoma An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. [url:http\://en.wikipedia.org/wiki/Fibrillary_astrocytoma, url:http\://www.braintumour.ca/4877/diffuse-astrocytoma-/-fibrillary-astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=45602] Fibrillary Astrocytic tumors EXACT [NCI2004_11_17:C4322] DOID:6727 colon small cell carcinoma Colonic small cell carcinoma EXACT [NCI2004_11_17:C6761] DOID:6728 recurrent pediatric optic nerve astrocytoma DOID:6729 recurrent pediatric optic nerve glioma DOID:6730 recurrent childhood optic tract astrocytoma recurrent pediatric visual pathway astrocytoma EXACT [NCI2004_11_17:C7530] DOID:6731 recurrent glioma of childhood visual pathway relapsed glioma of the pediatric visual pathway EXACT [NCI2004_11_17:C7529] DOID:6733 intrahepatic bile duct cystadenoma Cystadenoma of the Intrahepatic bile duct EXACT [NCI2004_11_17:C7127] DOID:6735 schwannoma of jugular foramen Neurilemmoma of Jugular Foramen EXACT [NCI2004_11_17:C5323] DOID:674 cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. [url:http\://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate, url:http\://ghr.nlm.nih.gov/glossary=cleftpalate] Uranostaphyloschisis (disorder) EXACT [SNOMEDCT_2005_07_31:63567004] DOID:6740 cervix small cell carcinoma small cell carcinoma of the Cervix Uteri EXACT [NCI2004_11_17:C7982] DOID:6741 bilateral breast cancer A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. [url:http\://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html] Bilateral breast carcinoma EXACT [NCI2004_11_17:C8287] DOID:6742 synchronous bilateral breast carcinoma DOID:6750 malignant fibrous histiocytoma recurrent relapsed malignant fibrous Histiocytoma EXACT [NCI2004_11_17:C8795] DOID:6752 internal auditory canal lipoma Lipoma of the Internal Auditory canal EXACT [NCI2004_11_17:C5452] DOID:6755 amyloid tumor Amyloid tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:37279009] DOID:6758 chest wall lymphoma A thoracic cancer that is located_in the chest wall. [url:http\://en.wikipedia.org/wiki/Chest_wall] malignant tumor of Chest Wall EXACT [NCI2004_11_17:C4580] DOID:6759 bone lymphoma A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. [url:http\://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm, url:http\://www.lymphomainfo.net/nhl/types/bone.html] Lymphoma of the bone EXACT [NCI2004_11_17:C6620] DOID:676 juvenile rheumatoid arthritis A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. [url:http\://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000451.htm, url:http\://www.umm.edu/ency/article/000451.htm] systemic juvenile rheumatoid arthritis EXACT [] DOID:6760 lung lymphoma pulmonary Lymphoma EXACT [NCI2004_11_17:C4794] DOID:6761 skin lymphoma Cutaneous lymphoma, NOS EXACT [SNOMEDCT_2005_07_31:28054005] DOID:6762 sternum lymphoma lymphoma of the sternum EXACT [] DOID:6764 peripheral neuroblastoma peripheral neuroblastoma EXACT [SNOMEDCT_2005_07_31:254764001] DOID:6774 polyembryoma of the ovary DOID:6776 breast myoepithelial carcinoma DOID:6777 villoglandular endometrial endometrioid adenocarcinoma DOID:6778 renal pelvis and ureter localized transitional cell cancer localized Urothelial carcinoma of the renal Pelvis and Ureter EXACT [NCI2004_11_17:C8167] DOID:678 progressive supranuclear palsy A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. [url:http\://en.wikipedia.org/wiki/Progressive_supranuclear_palsy, url:http\://www.ninds.nih.gov/disorders/psp/psp.htm] Steele-Richardson-Olszewski syndrome EXACT [] DOID:6784 pediatric desmoplastic small round cell tumor DOID:6785 desmoplastic small round cell tumor desmoplastic small round-cell neoplasm EXACT [NCI2004_11_17:C8300] DOID:6786 childhood botryoid rhabdomyosarcoma childhood sarcoma Botryoides EXACT [NCI2004_11_17:C35574] DOID:6787 childhood vagina botryoid rhabdomyosarcoma vaginal childhood sarcoma Botryoides EXACT [NCI2004_11_17:C35556] DOID:6788 vagina botryoid rhabdomyosarcoma DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma childhood sarcoma Botryoides of the Vulva EXACT [NCI2004_11_17:C36098] DOID:679 basal ganglia disease disorder of basal ganglia (disorder) EXACT [SNOMEDCT_2005_07_31:70835005] DOID:6792 mixed endodermal sinus neoplasm and teratoma with seminoma of the testis mixed Yolk Sac tumor and teratoma with Seminoma of testis EXACT [NCI2004_11_17:C8003] DOID:68 lymphomyeloid tissue disease DOID:680 tauopathy A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. [url:http\://en.wikipedia.org/wiki/Tauopathy] DOID:6801 recurrent hematologic cancer A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp] recurrent Hematologic Malignancy EXACT [NCI2004_11_17:C27358] DOID:6802 relapsed precursor T lymphoblastic lymphoma/leukemia DOID:6803 recurrent adult acute lymphocytic leukemia A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. [url:http\://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx] relapsed adult acute lymphoid Leukemia EXACT [NCI2004_11_17:C7883] DOID:6804 colon Kaposi sarcoma A sarcoma of colon that is located_in the colon. [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp] Colonic Kaposi's sarcoma EXACT [NCI2004_11_17:C5516] DOID:6807 hamartoma Moniliformis Moniliform hamartoma (disorder) EXACT [SNOMEDCT_2005_07_31:239128003] DOID:6808 Basaloid follicular hamartoma Basal cell nevus with Comedones EXACT [NCI2004_11_17:C4749] DOID:6809 vaginal tubular adenoma DOID:681 progressive bulbar palsy DOID:6811 juvenile pilocytic astrocytoma DOID:6812 childhood pilocytic astrocytoma pediatric Pilocytic astrocytoma EXACT [NCI2004_11_17:C4048] DOID:682 compartment syndrome Compartmental syndrome, NOS EXACT [SNOMEDCT_2005_07_31:45781009] DOID:6820 anaplastic childhood astrocytoma of brain grade III pediatric astrocytoma of the brain EXACT [NCI2004_11_17:C6252] DOID:6823 pancreatoblastoma Pancreatoblastoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:53618008] DOID:6826 recurrent cancer of pancreas relapsed pancreatic carcinoma EXACT [NCI2004_11_17:C7626] DOID:6827 pancreatic solid pseudopapillary carcinoma A pancreatic carcinoma that is characterized by its papillary architecture. [url:http\://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour, url:http\://www.ncbi.nlm.nih.gov/pubmed/19268906] pancreatic solid Pseudopapillary carcinoma EXACT [NCI2004_11_17:C5728] DOID:6828 non-resectable pancreatic carcinoma Unresectable pancreatic carcinoma EXACT [NCI2004_11_17:C5018] DOID:683 motor neuritis peripheral motor neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:95663000] DOID:6830 resectable pancreas carcinoma pancreatic carcinoma, Resectable EXACT [NCI2004_11_17:C5099] DOID:6835 recurrent anal cancer recurrent anal canal cancer EXACT [NCI2004_11_17:C7793] DOID:6837 rete ovarii adenoma DOID:6838 rete ovarii cystadenofibroma DOID:6839 breast intraductal proliferative lesion Intraductal Proliferative Lesion EXACT [NCI2004_11_17:C27942] DOID:684 hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes. [url:http\://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma, url:http\://en.wikipedia.org/wiki/Hepatocellular_carcinoma, url:http\://www.omim.org/entry/114550] Hepatoma EXACT [SNOMEDCT_2005_07_31:126851005] DOID:6840 glandular cell intraepithelial neoplasm DOID:6841 flat ductal epithelial atypia Flat ductal epithelial Atypia EXACT [NCI2004_11_17:C36086] DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma of renal Pelvis EXACT [NCI2004_11_17:C6186] DOID:6845 infiltrating ureter transitional cell carcinoma DOID:6846 familial melanoma DOID:6847 adult botryoid rhabdomyosarcoma DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6849 testicular intratubular germ cell neoplasia of the unclassified type A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. [URL:http\://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result] testicular Intraepithelial Neoplasia EXACT [NCI2004_11_17:C40345] DOID:6850 hamartoma of Eccrine Sweat gland hamartoma of the Eccrine Sweat gland EXACT [NCI2004_11_17:C5564] DOID:6851 Linear Eccrine nevus with Comedones Porokeratotic eccrine ostial and dermal duct nevus (disorder) EXACT [SNOMEDCT_2005_07_31:239118007] DOID:6852 eccrine angiomatous hamartoma Eccrine Angiomatous nevus EXACT [NCI2004_11_17:C4703] DOID:6854 ethmoid sinus ectopic meningioma primary Ectopic meningioma of ethmoidal sinus EXACT [NCI2004_11_17:C5309] DOID:6856 pineal region teratoma teratoma of Pineal Area EXACT [NCI2004_11_17:C6753] DOID:6857 pineal region mature teratoma Mature teratoma of the Pineal Area EXACT [NCI2004_11_17:C6754] DOID:6858 pineal region immature teratoma Atypical Pineal teratoma EXACT [NCI2004_11_17:C6755] DOID:686 liver carcinoma A liver cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Liver_cancer] Liver and Intrahepatic bile duct carcinoma EXACT [NCI2004_11_17:C7927] DOID:6860 Endobronchial hamartoma DOID:6861 recurrent cancer of gallbladder relapsed cancer of the gallbladder EXACT [NCI2004_11_17:C4008] DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma DOID:6867 mediastinal gray zone lymphoma DOID:6868 mediastinal malignant lymphoma Lymphoma of mediastinum EXACT [NCI2004_11_17:C6633] DOID:6869 parasagittal meningioma DOID:687 hepatoblastoma HBL EXACT [NCI2004_11_17:C3728] DOID:6870 cockade nevus Cockade nevus (disorder) EXACT [SNOMEDCT_2005_07_31:254804007] DOID:6871 spinal cord neuroblastoma neuroblastoma of the Spinal Cord EXACT [NCI2004_11_17:C5155] DOID:6872 spinal cord primitive neuroectodermal neoplasm Spinal Cord PNET EXACT [NCI2004_11_17:C5406] DOID:6873 skin tag Tag (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:80801001] DOID:6874 type 1a ALPS DOID:6876 mixed childhood rhabdomyosarcoma pediatric mixed type Rhabdomyosarcoma EXACT [NCI2004_11_17:C7960] DOID:6879 hamartoma of Apocrine Sweat gland hamartoma of the Apocrine Sweat gland EXACT [NCI2004_11_17:C5563] DOID:688 embryonal cancer A germ cell cancer that is associated with an embryo. [url:http\://www.cancer.gov/dictionary/?CdrID=44250] embryonal neoplasm EXACT [NCI2004_11_17:C3264] DOID:6880 small bowel fibrosarcoma A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] Fibrosarcoma, small Intestine EXACT [NCI2004_11_17:C5336] DOID:6886 ureter small cell carcinoma ureteral small cell carcinoma EXACT [NCI2004_11_17:C6176] DOID:6887 recurrent ureteric cancer recurrent Ureter carcinoma EXACT [NCI2004_11_17:C9255] DOID:6888 ureter transitional cell carcinoma ureteral Urothelial cell carcinoma EXACT [NCI2004_11_17:C4830] DOID:6893 AIDS-related cervical cancer AIDS Related carcinoma of the uterine Cervix EXACT [NCI2004_11_17:C7432] DOID:6894 AIDS-related cervical Kaposi's sarcoma AIDS-Related Kaposi's sarcoma of Cervix EXACT [NCI2004_11_17:C7433] DOID:6895 AIDS-related Kaposi's sarcoma A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. [url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma] HIV disease resulting in Kaposi's sarcoma (disorder) EXACT [SNOMEDCT_2005_07_31:186722007] DOID:6897 Malposition and malpresentation of fetus DOID:6898 ovary mixed epithelial carcinoma mixed epithelial carcinoma of Ovary EXACT [NCI2004_11_17:C9123] DOID:6899 malignant ovarian mixed epithelial neoplasm DOID:69 hemopoetic tissue disease DOID:690 childhood cancer of liver pediatric carcinoma of the Liver cell EXACT [NCI2004_11_17:C7955] DOID:6901 familiar ovarian carcinoma DOID:6903 eye lymphoma A lymphoma by site that is manifested in immune system cells called lymphocytes. [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp] DOID:6905 AIDS-related herpes zoster A herpes zoster that is complicated_by AIDS. [url:http\://www.aidsinfonet.org/fact_sheets/view/509] DOID:6906 glomangiomatosis DOID:6917 predominantly cortical thymoma Thymoma, organoid EXACT [SNOMEDCT_2005_07_31:128711009] DOID:6919 extramucosal (perianal) adenocarcinoma extramucosal (perianal) adenocarcinoma of the anus RELATED [] DOID:6923 fibrolipomatous hamartoma of peripheral nerve DOID:6925 peroneal nerve paralysis Peroneal nerve palsy EXACT [SNOMEDCT_2005_07_31:34553007] DOID:6929 retinal edema DOID:693 dental enamel hypoplasia Enamel hypoplasia (disorder) EXACT [SNOMEDCT_2005_07_31:26597004] DOID:6931 papillary extrahepatic bile duct adenocarcinoma DOID:6932 urinary bladder inverted papilloma DOID:6933 bladder transitional cell papilloma Urothelial papilloma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:45083001] DOID:6934 urethra inverted papilloma Inverted papilloma of the urethra EXACT [NCI2004_11_17:C6173] DOID:6935 ureter inverted papilloma ureteral Inverted papilloma EXACT [NCI2004_11_17:C6174] DOID:6936 ureter urothelial papilloma DOID:6938 pediatric Intraocular retinoblastoma An intraocular retinoblastoma that effects children. [url:http\://www.answers.com/topic/intraocular-retinoblastoma] childhood Intraocular Retinoblastoma EXACT [NCI2004_11_17:C9047] DOID:6939 childhood brain meningioma pediatric meningioma of brain EXACT [NCI2004_11_17:C6253] DOID:6943 vulvar inverted follicular keratosis DOID:6944 vulvar seborrheic keratosis Seborrheic Keratosis of Vulva EXACT [NCI2004_11_17:C6375] DOID:6945 inverted follicular keratosis Inverted follicular keratosis (disorder) EXACT [SNOMEDCT_2005_07_31:394728005] DOID:6947 sphenoidal sinus neoplasm tumor of Sphenoidal sinus EXACT [NCI2004_11_17:C6792] DOID:6948 malignant gastric teratoma malignant teratoma of stomach EXACT [NCI2004_11_17:C5256] DOID:6949 malignant gastric germ cell tumor malignant germ cell tumor of stomach EXACT [NCI2004_11_17:C5486] DOID:6950 combat disorder An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. [url:http\://neurolex.org/wiki/Category\:Combat_Disorder] Combat Neurosis EXACT [NCI2004_11_17:C34498] DOID:6951 telangiectatic osteogenic sarcoma Telangiectatic osteosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:78453009] DOID:6954 Epstein-Barr virus related lymphoma An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. [url:http\://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm] EBV Related Lymphoma EXACT [NCI2004_11_17:C27691] DOID:6955 intracranial melanoma DOID:6956 malignant intracranial neoplasm By Morphology DOID:6958 aleukemic monocytic leukemia cutis DOID:6959 rectal cloacogenic carcinoma transitional Zone carcinoma of rectum EXACT [NCI2004_11_17:C5555] DOID:6961 Bartholin's gland squamous cell carcinoma Bartholin gland squamous cell carcinoma EXACT [] DOID:6962 recurrent cancer of skin recurrent Cutaneous carcinoma EXACT [NCI2004_11_17:C7903] DOID:6969 acute canaliculitis acute lacrimal canaliculitis EXACT [SNOMEDCT_2005_07_31:84399007] DOID:6970 acute inflammation of lacrimal passage DOID:6975 bladder urothelial papillary carcinoma urothelial papillary carcinoma of the bladder RELATED [] DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma DOID:6977 pancreatic cholera Verner-Morrison syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:39998009] DOID:698 dentin sensitivity Sensitive dentin (disorder) EXACT [SNOMEDCT_2005_07_31:13468005] DOID:6980 recurrent rectosigmoid cancer relapsed Rectosigmoid cancer EXACT [NCI2004_11_17:C8634] DOID:6981 recurrent colorectal cancer Colorectal carcinoma recurrent EXACT [NCI2004_11_17:C8625] DOID:6988 peripheral epithelioid sarcoma DOID:6989 non-neoplastic non-molar trophoblastic disorder DOID:699 mitochondrial myopathy A myopathy that is characterized by mitochondrial dysfunction. [url:http\://en.wikipedia.org/wiki/Mitochondrial_myopathies, url:http\://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm] mitochondrial cytopathy (disorder) EXACT [SNOMEDCT_2005_07_31:240096000] DOID:6990 placental site nodule or plaque DOID:6991 exaggerated placental site Exaggerated placental site (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:416635001] DOID:6992 intraocular mixed cell type melanoma mixed cell type Uveal melanoma EXACT [NCI2004_11_17:C7989] DOID:6993 iris mixed cell melanoma DOID:6994 malignant iris melanoma melanoma of the Iris EXACT [NCI2004_11_17:C9088] DOID:6995 metastasis to the kidney secondary malignant neoplasm of kidney (disorder) EXACT [SNOMEDCT_2005_07_31:94360002] DOID:6996 intermediate cell type choroid melanoma mixed cell melanoma of Choroid EXACT [NCI2004_11_17:C6100] DOID:6997 intermediate cell type ciliary body melanoma DOID:6998 gallbladder mucinous carcinoma Colloidal carcinoma of the gallbladder EXACT [NCI2004_11_17:C5744] DOID:6999 lung recurrent squamous cell carcinoma recurrent squamous cell carcinoma of the lung EXACT [NCI2004_11_17:C5014] DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure. [DO:wk\,ls, URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic] DOID:70 lymphoid tissue disease DOID:700 mitochondrial metabolism disease An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. [url:http\://en.wikipedia.org/wiki/Mitochondrial_disease] DOID:7001 recurrent large cell carcinoma of lung relapsed large cell carcinoma of the lung EXACT [NCI2004_11_17:C8753] DOID:7002 recurrent adenocarcinoma of lung lung Adenocarcinoma, recurrent EXACT [NCI2004_11_17:C8757] DOID:7003 malignant vaginal mixed tumor resembling synovial sarcoma DOID:7004 ACTH-secreting pituitary adenoma A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. [url:http\://en.wikipedia.org/wiki/Cushing%27s_syndrome] Corticotropinoma EXACT [NCI2004_11_17:C7462] DOID:7005 gemistocytic astrocytoma Gemistocytic astrocytoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:73982001] DOID:7006 childhood cerebral diffuse astrocytoma DOID:7007 childhood cerebral astrocytoma pediatric astrocytoma of Cerebrum EXACT [NCI2004_11_17:C4347] DOID:7008 protoplasmic astrocytoma Protoplasmic astrocytoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:55094006] DOID:7009 adult diffuse astrocytoma DOID:701 dentin dysplasia A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. [url:http\://en.wikipedia.org/wiki/Dentin_dysplasia] Dentinal dysplasia EXACT [SNOMEDCT_2005_07_31:45742009] DOID:7011 recurrent thyroid carcinoma relapsed cancer of the Thyroid EXACT [NCI2004_11_17:C7908] DOID:7012 anaplastic thyroid carcinoma sarcomatoid Thyroid carcinoma EXACT [NCI2004_11_17:C3878] DOID:7013 ovarian mucinous cystadenofibroma DOID:7014 infiltrating lipoma Intramuscular lipoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:24045002] DOID:7015 deep fatty neoplasm Deep Fatty tumor EXACT [NCI2004_11_17:C6498] DOID:7016 tendon sheath lipoma Lipoma of the Tendon Sheath EXACT [NCI2004_11_17:C6499] DOID:7017 lumbosacral lipoma DOID:7018 secondary malignant neoplasm to the adult brain metastatic tumor to the adult brain EXACT [NCI2004_11_17:C5816] DOID:702 tooth abnormality congenital dentition disorder EXACT [CSP2005:0723-8720] DOID:7023 borderline ovarian serous neoplasm with microinvasion DOID:7024 mucinous intrahepatic cholangiocarcinoma DOID:7025 anaplastic malignant intracranial meningioma DOID:7026 adult malignant meningioma WHO grade III meningioma EXACT [NCI2004_11_17:C38938] DOID:7029 site specific early onset breast cancer syndrome DOID:7030 bronchial mucus gland adenoma adenoma of the Bronchial Mucus gland EXACT [NCI2004_11_17:C5664] DOID:7031 glottis squamous cell carcinoma squamous cell carcinoma of glottis RELATED [] DOID:7032 bile duct clear cell adenocarcinoma bile duct clear cell carcinoma EXACT [NCI2004_11_17:C5775] DOID:7033 anisakiasis A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf] Infection by Anisakis larva (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:32183007] DOID:7037 childhood immature teratoma of ovary pediatric Immature teratoma of Ovary EXACT [NCI2004_11_17:C6547] DOID:7039 Borst-Jadassohn intraepidermal carcinoma Intraepidermal epithelioma of Jadassohn (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:39332000] DOID:7040 uveal epithelioid cell melanoma DOID:7041 choroid epithelioid cell melanoma Choroidal epithelioid cell melanoma EXACT [NCI2004_11_17:C6102] DOID:7042 ciliary body epithelioid cell melanoma DOID:7043 metastatic vulvar cancer metastatic Vulvar carcinoma EXACT [NCI2004_11_17:C27247] DOID:7045 basaloid lung carcinoma DOID:7046 cervical basaloid squamous cell carcinoma DOID:7047 penis basaloid carcinoma squamous cell carcinoma of penis, Basaloid type EXACT [NCI2004_11_17:C6980] DOID:7048 vulvar basaloid squamous cell carcinoma DOID:7049 basaloid squamous cell skin carcinoma skin Basaloid squamous cell carcinoma EXACT [NCI2004_11_17:C27543] DOID:705 leber hereditary optic neuropathy optic atrophy, Leber's EXACT [MTHICD9_2006:377.16] DOID:7050 thymus basaloid carcinoma Basaloid carcinoma of the Thymus EXACT [NCI2004_11_17:C6456] DOID:7051 esophageal basaloid squamous cell carcinoma Basaloid squamous carcinoma of esophagus EXACT [NCI2004_11_17:C7032] DOID:7053 anaplastic small cell thyroid carcinoma Undifferentiated small cell carcinoma of the Thyroid gland EXACT [NCI2004_11_17:C7907] DOID:7054 multiple skull base meningioma DOID:706 mature B-cell neoplasm mature B-cell lymphocytic neoplasm EXACT [] DOID:7061 precursor B lymphoblastic lymphoma/leukemia DOID:707 B-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells. [url:http\://en.wikipedia.org/wiki/B-cell_lymphoma] B-cell lymphocytic neoplasm EXACT [] DOID:7070 recurrent pediatric rhabdomyosarcoma relapsed pediatric Rhabdomyosarcoma EXACT [NCI2004_11_17:C7815] DOID:7071 spinal cord dermoid cyst Spinal Cord Dermoid EXACT [NCI2004_11_17:C6808] DOID:7074 choroidal hemorrhage and rupture Choroidal hemorrhage or rupture NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193476000] DOID:7075 atypical vulvar nevus DOID:7076 lipid-rich breast carcinoma DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum mediastinal melanocytic MPNST EXACT [NCI2004_11_17:C6630] DOID:7078 malignant mediastinal peripheral nerve sheath tumor MPNST of mediastinum EXACT [NCI2004_11_17:C6626] DOID:7079 adult cystic teratoma DOID:7081 lung mixed small cell and squamous cell carcinoma small cell and squamous cell carcinoma of the lung EXACT [NCI2004_11_17:C9423] DOID:7083 recurrent adult primary hepatoma DOID:7084 recurrent adult primary liver cancer relapsed adult Liver cancer EXACT [NCI2004_11_17:C7880] DOID:7086 multicentric papillary thyroid carcinoma DOID:7088 columnar cell variant papillary carcinoma DOID:7089 tall cell variant papillary carcinoma DOID:709 splenic manifestation of hairy cell leukemia DOID:7095 pediatric epithelioid sarcoma DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7099 ovarian dermoid cyst with squamous cell carcinoma DOID:710 splenic manifestation of leukemia A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. [url:http\://www.medilexicon.com/medicaldictionary.php?t=49026] splenic leukemia RELATED [] DOID:7103 diaphragma sellae meningioma meningioma of Diaphragm Sellae EXACT [NCI2004_11_17:C5283] DOID:7105 epiglottis neoplasm neoplasm of epiglottis (disorder) EXACT [SNOMEDCT_2005_07_31:126699008] DOID:711 refractory hairy cell leukemia A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. [url:http\://en.wikipedia.org/wiki/Hairy_cell_leukemia, url:http\://www.medterms.com/script/main/art.asp?articlekey=5274] Refractory Hairy cell Leukemia EXACT [NCI2004_11_17:C8030] DOID:712 refractory hematologic cancer A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863] DOID:7127 radiation cystitis Irradiation cystitis EXACT [ICD9CM_2006:595.82] DOID:713 HCL-V Hairy cell leukemia variant (disorder) EXACT [SNOMEDCT_2005_07_31:277568007] DOID:7132 urinary bladder small cell neuroendocrine carcinoma small cell/neuroendocrine carcinoma of urinary bladder EXACT [NCI2004_11_17:C9461] DOID:7133 gallbladder small cell carcinoma Oat cell carcinoma of the gallbladder EXACT [NCI2004_11_17:C6763] DOID:7134 esophagus small cell carcinoma Oat cell carcinoma of esophagus EXACT [NCI2004_11_17:C6762] DOID:7136 ampulla of Vater small cell carcinoma ampullary small cell carcinoma EXACT [] DOID:7138 cystitis cystica DOID:7139 endometrial small cell carcinoma DOID:7140 Bartholin's gland small cell carcinoma Bartholin gland small cell carcinoma NARROW [] DOID:7141 prostate small cell carcinoma small cell carcinoma of prostate (disorder) EXACT [SNOMEDCT_2005_07_31:396198006] DOID:7142 thymus small cell carcinoma small cell carcinoma of the Thymus EXACT [NCI2004_11_17:C6460] DOID:7144 laryngeal small cell carcinoma small cell carcinoma of Larynx EXACT [NCI2004_11_17:C6025] DOID:7145 papillary cystic tumor solid pseudopapillary tumour EXACT [SNOMEDCT_2005_07_31:27078002] DOID:7146 Langerhans cell sarcoma A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. [url:http\://en.wikipedia.org/wiki/Langerhans_cell_sarcoma, url:http\://www.wrongdiagnosis.com/l/langerhans_cell_sarcoma/intro.htm] DOID:7147 ankylosing spondylitis A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Ankylosing_spondylitis, url:http\://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000420.htm, url:http\://www.spondylitis.org/about/as.aspx] Marie-Strumpell disease EXACT [] DOID:7148 rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. [url:http\://en.wikipedia.org/wiki/Rheumatoid_arthritis, url:http\://www.arthritis.org/disease-center.php?disease_id=31, url:http\://www.mayoclinic.com/health/rheumatoid-arthritis/DS00020, url:http\://www.medicinenet.com/rheumatoid_arthritis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000431.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis] atrophic Arthritis EXACT [NCI2004_11_17:C27206] DOID:7149 metastatic parathyroid cancer metastatic Parathyroid carcinoma EXACT [NCI2004_11_17:C9044] DOID:715 T-cell leukemia DOID:7150 recurrent parathyroid cancer recurrent Parathyroid carcinoma EXACT [NCI2004_11_17:C7828] DOID:7152 prostate stromal sarcoma A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. [url:http\://www.gfmer.ch/selected_images_v2/detail_list.php?cat1=13&cat3=1021&stype=d] Stromal sarcoma of the prostate EXACT [NCI2004_11_17:C5524] DOID:7154 anaplastic oligodendroglioma Undifferentiated Oligodendroglioma EXACT [NCI2004_11_17:C4326] DOID:7155 adult undifferentiated oligodendroglioma DOID:7156 anaplastic childhood oligodendroglioma Undifferentiated pediatric Oligodendroglioma EXACT [NCI2004_11_17:C5447] DOID:7157 metastatic squamous neck cancer with occult primary squamous cell carcinoma metastatic to the neck with Occult primary EXACT [NCI2004_11_17:C7713] DOID:7158 recurrent metastatic squamous cell cancer to the neck with occult primary relapsed metastatic Epidermoid carcinoma to the neck with Occult primary EXACT [NCI2004_11_17:C9117] DOID:716 Human T-lymphotropic virus 2 infectious disease A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. [url:http\://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf, url:http\://www.communitybloodservices.org/pdf/inserts/Abbott%20Prism%20HTLV%20I%20II.pdf] HTLV-II infectious disease EXACT [] DOID:7160 rectum leiomyoma leiomyoma of rectum EXACT [NCI2004_11_17:C5552] DOID:7162 recurrent larynx cancer relapsed carcinoma of the Larynx EXACT [NCI2004_11_17:C4034] DOID:7164 mediastinum mature teratoma Mature teratoma of mediastinum EXACT [NCI2004_11_17:C7104] DOID:7165 subacute thyroiditis Subacute thyroiditis (disorder) EXACT [SNOMEDCT_2005_07_31:38727009] DOID:7166 thyroiditis DOID:7168 lung occult adenocarcinoma Occult adenocarcinoma of the lung EXACT [NCI2004_11_17:C6699] DOID:7169 lung occult large cell carcinoma Occult large cell carcinoma of the lung EXACT [NCI2004_11_17:C6685] DOID:7170 recurrent non-cutaneous melanoma DOID:7171 recurrent cutaneous melanoma recurrent melanoma of skin EXACT [NCI2004_11_17:C9097] DOID:7173 cloacogenic carcinoma Cloacogenic carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:84570003] DOID:7174 anus basaloid carcinoma basaloid carcinoma of the anus RELATED [] DOID:7175 anal Buschke-Lowenstein tumor anal Giant (malignant) Condyloma EXACT [NCI2004_11_17:C7470] DOID:7177 anal canal squamous cell carcinoma An anal canal cancer that derives_from epithelial squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] DOID:7179 mixed eosinophil-basophil adenoma mixed acidophil-basophil adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:48619006] DOID:718 autoimmune hemolytic anemia An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. [sn:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia] Autoimmune hemolytic anemia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:191215000] DOID:7181 benign dermal neurilemmoma benign Schwannoma of the skin EXACT [NCI2004_11_17:C5569] DOID:7186 metastatic childhood sarcoma of soft tissue metastatic pediatric sarcoma of the soft tissue EXACT [NCI2004_11_17:C8066] DOID:7187 subacute lymphocytic thyroiditis Subacute lymphocytic thyroiditis (disorder) EXACT [SNOMEDCT_2005_07_31:361126006] DOID:7188 autoimmune thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. [sn:IEDB] Lymphocytic Thyroiditis EXACT [NCI2004_11_17:C38766] DOID:7191 ovarian endometrioid cystadenoma DOID:7192 hereditary conventional renal cell carcinoma DOID:7198 maxillary sinus adenoid cystic carcinoma adenoid cystic carcinoma of the maxillary sinus EXACT [NCI2004_11_17:C6239] DOID:720 normocytic anemia Normocytic anemia (disorder) EXACT [SNOMEDCT_2005_07_31:300980002] DOID:7202 intermediate malignant teratoma malignant teratoma, intermediate (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:21912003] DOID:7206 melanomatosis DOID:7207 lung combined large cell neuroendocrine carcinoma pulmonary Combined large cell neuroendocrine carcinoma EXACT [NCI2004_11_17:C7267] DOID:7210 psammomatous meningioma Psammomatous meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:38431002] DOID:7211 fibrous meningioma fibrous meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:511008] DOID:7212 meningothelial meningioma Meningotheliomatous meningioma EXACT [NCI2004_11_17:C4329] DOID:7213 transitional meningioma transitional meningioma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:64967004] DOID:7214 noninvasive malignant thymoma Thymoma malignant Noninvasive EXACT [NCI2004_11_17:C9080] DOID:7215 relapsed childhood ependymoma relapsed pediatric Ependymoma EXACT [NCI2004_11_17:C8579] DOID:722 spontaneous abortion miscarriage EXACT [] DOID:7221 gallbladder papillary carcinoma Papillary carcinoma of the gallbladder EXACT [NCI2004_11_17:C5743] DOID:7222 gallbladder pleomorphic giant cell adenocarcinoma Pleomorphic Giant cell adenocarcinoma of the gallbladder EXACT [NCI2004_11_17:C5838] DOID:7223 breast giant fibroadenoma Giant fibroadenoma of breast (disorder) EXACT [SNOMEDCT_2005_07_31:254846003] DOID:7224 spinal meninges cancer malignant neoplasm of spinal meninges NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188320007] DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL with IGVH SHM EXACT [NCI2004_11_17:C37201] DOID:7231 pediatric CNS embryonal cell carcinoma Embryonal carcinoma of pediatric CNS EXACT [NCI2004_11_17:C6208] DOID:7232 central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system RELATED [] DOID:7233 adult central nervous system embryonal carcinoma Embryonal carcinoma of the adult central nervous system EXACT [NCI2004_11_17:C5790] DOID:7234 pancreatic colloid cystadenocarcinoma mucinous Cystadencarcinoma of pancreas EXACT [NCI2004_11_17:C5713] DOID:7235 pancreatic mucinous cystadenoma pancreatic mucinous cystic neoplasm EXACT [] DOID:7236 pancreatic invasive mucinous cystadenocarcinoma DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma DOID:7238 AIDS-related gastric Kaposi's sarcoma An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. [url:http\://jco.ascopubs.org/cgi/content/short/28/16/e250] AIDS-Related Kaposi's sarcoma of stomach EXACT [NCI2004_11_17:C5624] DOID:724 female stress incontinence Stress incontinence - female EXACT [SNOMEDCT_2005_07_31:266668007] DOID:7241 uterine corpus apoplectic leiomyoma DOID:7242 uterine corpus cellular leiomyoma DOID:7244 bladder urachal urothelial carcinoma DOID:7245 metastatic endometrial adenocarcinoma DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma lymphoepithelioma-like variant acinar prostate adenocarcinoma EXACT [] DOID:7252 cerebral meninges malignant neoplasm malignant neoplasm of cerebral meninges NOS (disorder) EXACT [SNOMEDCT_2005_07_31:188316008] DOID:7256 anaplastic urethra carcinoma Undifferentiated carcinoma of the urethra EXACT [NCI2004_11_17:C6168] DOID:7262 gallbladder anaplastic carcinoma Undifferentiated gallbladder carcinoma EXACT [NCI2004_11_17:C9167] DOID:7263 selective IgD deficiency disease Selective immunoglobulin D deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:234541006] DOID:7266 familiar fallopian tube carcinoma DOID:7267 lung clear cell carcinoma DOID:7268 solid carcinoma of lung with mucus formation pulmonary solid adenocarcinoma with Mucin EXACT [NCI2004_11_17:C5651] DOID:7269 cribriform variant testicular seminoma DOID:727 premenstrual tension DOID:7273 adrenal gland tuberculosis DOID:728 nodular episcleritis DOID:7280 congenital epulis Congenital Epulis EXACT [NCI2004_11_17:C4675] DOID:7281 uterine corpus adenocarcinofibroma DOID:7284 skene gland carcinoma paraurethral gland carcinoma EXACT [] DOID:7289 secretory uterine corpus endometrioid adenocarcinoma DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma DOID:7295 recurrent childhood soft tissue sarcoma relapsed pediatric sarcoma of the soft tissue EXACT [NCI2004_11_17:C8067] DOID:7296 nonmetastatic childhood soft tissue sarcoma Non-metastatic pediatric soft tissue sarcoma EXACT [NCI2004_11_17:C8065] DOID:7297 childhood extraosseous osteosarcoma pediatric extraskeletal Osteosarcoma EXACT [NCI2004_11_17:C27376] DOID:730 urethral benign neoplasm neoplasm. urethra EXACT [NCI2004_11_17:C3428] DOID:7301 inferior vena cava leiomyosarcoma leiomyosarcoma of the Inferior Vena Cava EXACT [NCI2004_11_17:C5372] DOID:7302 endodermal sinus pattern testicular yolk sac tumor DOID:7304 breast carcinoma metastatic to the brain DOID:7305 astroblastoma Astroblastoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:48952003] DOID:7306 anaplastic oligoastrocytoma WHO grade III mixed glioma EXACT [NCI2004_11_17:C6959] DOID:731 urinary system benign neoplasm An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. [url:http\://en.wikipedia.org/wiki/Urinary_system] urinary tract neoplasm EXACT [CSP2005:2021-0179] DOID:7312 breast adenomyoepithelial adenosis DOID:7315 Jewett-Marshall bladder cancer stage IVB urinary bladder carcinoma EXACT [NCI2004_11_17:C9368] DOID:7316 inherited neuropathy hereditary neuropathy EXACT [CSP2005:2042-7013] DOID:7319 axonal neuropathy Axonal neuropathy (disorder) EXACT [SNOMEDCT_2005_07_31:60703000] DOID:732 urethral disease A urinary system disease that is located_in the urethra. [url:http\://www.nlm.nih.gov/medlineplus/urethraldisorders.html] urethra disease EXACT [NCI2004_11_17:C26903] DOID:7320 ovarian serous cystadenofibroma DOID:7323 primary cerebral lymphoma in immunocompetent host DOID:7324 hepatitis C virus related hepatocellular carcinoma DOID:7325 hepatitis B virus related hepatocellular carcinoma DOID:7326 cranial pseudosarcomatous fasciitis DOID:7327 pseudosarcomatous fibromatosis Pseudosarcomatous fibromatosis (disorder) EXACT [SNOMEDCT_2005_07_31:203057005] DOID:7328 iris spindle cell melanoma A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5] DOID:7332 esophageal tuberculosis A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. [url:http\://www.springerlink.com/content/53763553187824h3/fulltext.pdf] tuberculosis of esophagus EXACT [] DOID:7333 nephrogenic adenoma of urinary bladder Nephrogenic adenoma of the urinary bladder EXACT [NCI2004_11_17:C7415] DOID:7334 nephrogenic adenoma DOID:7335 extraocular extension of melanoma DOID:734 urethra cancer An urinary tract cancer that derives_from the tissues of the urethra. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient] urethral Ca EXACT [SNOMEDCT_2005_07_31:363459007] DOID:7340 pediatric ovarian dysgerminoma A dysgerminoma of ovary that occurs in children. [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] DOID:7344 anaplastic brainstem astrocytoma DOID:7345 anaplastic glioma of brain stem Undifferentiated glioma of Brainstem EXACT [NCI2004_11_17:C7446] DOID:7347 ovarian stromal hyperthecosis DOID:735 metastatic neoplasm of urethra urethra metastatic malignant neoplasm EXACT [NCI2004_11_17:C27819] DOID:7350 thymic dysplasia DOID:7351 localized Askin's tumor DOID:7352 diencephalic anaplastic astrocytoma Undifferentiated astrocytoma of Diencephalon EXACT [NCI2004_11_17:C5124] DOID:7356 rectum sarcomatoid carcinoma sarcomatoid carcinoma of rectum EXACT [NCI2004_11_17:C5556] DOID:7357 rectal anaplastic carcinoma Undifferentiated carcinoma of rectum EXACT [NCI2004_11_17:C7974] DOID:7358 recurrent rectal cancer recurrent Rectal carcinoma EXACT [NCI2004_11_17:C9238] DOID:736 male urethral cancer DOID:7360 solid pattern testicular yolk sac tumor DOID:7362 teratoma of CNS with malignant transformation teratoma of the central nervous system with malignant Transformation EXACT [NCI2004_11_17:C7015] DOID:7363 vulvar keratinizing squamous cell carcinoma DOID:7364 organic anxiety disorder DOID:7365 Kimura disease Kimura's disease (disorder) EXACT [SNOMEDCT_2005_07_31:399894006] DOID:7371 superficial urinary bladder cancer A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. [url:http\://www.malecare.com/new_page_91.htm] Superficial urinary bladder carcinoma EXACT [NCI2004_11_17:C27474] DOID:7378 pituitary hypoplasia DOID:7379 adrenal medulla carcinoma An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] DOID:738 female urethral cancer DOID:7380 squamous cell papilloma of skin squamous cell papilloma of skin (disorder) EXACT [SNOMEDCT_2005_07_31:254661000] DOID:7381 lymphohistiocytoid mesothelioma DOID:7384 localized resectable adult primary hepatoma DOID:7385 localized resectable adult primary liver cancer localized Resectable adult Liver carcinoma EXACT [NCI2004_11_17:C7877] DOID:7388 pulmonary vein leiomyosarcoma leiomyosarcoma of the pulmonary Vein EXACT [NCI2004_11_17:C5374] DOID:7389 pulmonary artery leiomyosarcoma leiomyosarcoma of the pulmonary artery EXACT [NCI2004_11_17:C5373] DOID:739 metastasis to the urethra secondary malignant neoplasm of urethra (disorder) EXACT [SNOMEDCT_2005_07_31:94661005] DOID:7390 superior vena cava leiomyosarcoma leiomyosarcoma of the Superior Vena Cava EXACT [NCI2004_11_17:C6745] DOID:7391 superior vena cava malignant neoplasm malignant tumor of Superior Vena Cava EXACT [NCI2004_11_17:C5379] DOID:7398 cerebral primitive neuroectodermal tumor PNET of Cerebrum EXACT [NCI2004_11_17:C4970] DOID:74 hematopoietic system disease An immune system disease that has_material_basis_in hematopoietic cells. [url:http\://en.wikipedia.org/wiki/Hematopathology] Hematological disease EXACT [MTH:NOCODE] DOID:7400 Nijmegen breakage syndrome Seemanova syndrome EXACT [CSP2005:5005-0018] DOID:7401 colonic L-cell glucagon-like peptide producing tumor DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7407 metastatic carcinoma to the uterine cervix secondary carcinoma to the Cervix Uteri EXACT [NCI2004_11_17:C6334] DOID:7408 vulvar keratoacanthoma-like carcinoma DOID:7409 vulvar non-keratinizing squamous cell carcinoma DOID:7410 vulvar squamous cell carcinoma with tumor giant cells DOID:7411 ovarian endometrioid cystadenofibroma DOID:7419 metaplastic meningioma Metaplastic meningioma EXACT [NCI2004_11_17:C6907] DOID:7420 placental infarction Placental infarction EXACT [NCI2004_11_17:C27181] DOID:7423 ovarian mucinous cystic tumor with mural nodules DOID:7426 cutaneous anthrax An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. [url:http\://emedicine.medscape.com/article/212127-overview#a0104, url:http\://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous] DOID:7427 anthrax disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. [url:http\://www.bt.cdc.gov/agent/anthrax/needtoknow.asp] DOID:7428 pineal region germinoma DOID:7429 childhood brain germinoma germinoma of the pediatric brain EXACT [NCI2004_11_17:C6207] DOID:743 dermatographia An urticaria induced by stroking of the skin. [url:http\://en.wikipedia.org/wiki/Dermatographic_urticaria, url:www.dermnetnz.org/reactions/urticaria.html] dermographism EXACT [SNOMEDCT_2005_07_31:156430003] DOID:7430 childhood germ cell brain tumor germ cell neoplasm of the pediatric brain EXACT [NCI2004_11_17:C5795] DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma DOID:7437 uterus perivascular epithelioid cell tumor uterine corpus PEComa EXACT [] DOID:7438 ovarian clear cell cystadenocarcinoma DOID:7439 polyp of middle ear polyp of the middle ear EXACT [NCI2004_11_17:C6933] DOID:744 Muscle calcification and ossification DOID:7441 chronic metabolic polyneuropathy DOID:7442 monoclonal gammopathy of uncertain significance Monoclonal gammopathy of undetermined significance (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:35601003] DOID:7444 diffuse intraductal papillomatosis Diffuse intraductal papillomatosis EXACT [SNOMEDCT_2005_07_31:32296002] DOID:745 epididymis adenomatoid tumor benign Epididymal epithelial Mesothelioma EXACT [NCI2004_11_17:C6382] DOID:7455 hypogonadotropism DOID:7457 enterobiasis A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh] Threadworm infection EXACT [MTHICD9_2006:127.4] DOID:7459 acantholytic variant squamous cell breast carcinoma DOID:746 adenomatoid tumor benign localized epithelial Mesothelioma EXACT [NCI2004_11_17:C3762] DOID:7460 spindle cell variant squamous cell breast carcinoma DOID:7461 large cell keratinizing variant squamous cell breast carcinoma DOID:7463 childhood pleomorphic rhabdomyosarcoma childhood anaplastic Rhabdomyosarcoma EXACT [NCI2004_11_17:C7959] DOID:7465 chronic NK-cell lymphocytosis NK-cell large granular Lymphocyte Lymphocytosis EXACT [NCI2004_11_17:C39591] DOID:7468 Spitz nevus Epithelioid and spindle-cell nevus EXACT [] DOID:7469 balloon cell nevus Balloon cell nevus (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:8276007] DOID:7470 neural nevus neuronevus (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:17930004] DOID:7471 deep penetrating nevus DOID:7472 recurrent nevus DOID:7473 recurrent malignant pleural mesothelioma relapsed malignant Pleural Mesothelioma EXACT [NCI2004_11_17:C8707] DOID:7474 malignant pleural mesothelioma A pleural cancer that has_material_basis_in mesothelium cells. [url:http\://en.wikipedia.org/wiki/Mesothelioma] malignant mesothelioma of pleura EXACT [SNOMEDCT_2005_07_31:187878009] DOID:7475 diverticulitis An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. [url:https\://en.wikipedia.org/wiki/Diverticulitis] Diverticulitis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:197102009] DOID:7479 duodenal somatostatinoma duodenal delta cell somatostatin producing tumor EXACT [] DOID:7480 large cell carcinoma with rhabdoid phenotype large cell lung carcinoma with Rhabdoid Phenotype EXACT [NCI2004_11_17:C6876] DOID:7482 petrous apex meningioma meningioma of the Petrous Ridge EXACT [NCI2004_11_17:C5271] DOID:7483 cervical keratinizing squamous cell carcinoma DOID:7486 metastatic renal cell carcinoma metastatic renal cell cancer EXACT [NCI2004_11_17:C27806] DOID:7488 posterior urethra cancer Posterior urethral malignant tumor EXACT [NCI2004_11_17:C7640] DOID:7489 Osgood-Schlatter's disease A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. [url:http\://emedicine.medscape.com/article/827380-overview, url:http\://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00411, url:http\://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392, url:http\://www.medicinenet.com/osgood-schlatter_disease/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001258.htm] Osteochondrosis of proximal tibia EXACT [MTHICD9_2006:732.4] DOID:749 active peptic ulcer disease GI Bleeding RELATED [] DOID:7491 vulvar proximal-type epithelioid sarcoma DOID:7492 central epithelioid sarcoma DOID:7497 brain ependymoma Ependymoma of brain (disorder) EXACT [SNOMEDCT_2005_07_31:254939008] DOID:7498 AIDS-related Human papillomavirus infectious disease A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. [url:http\://www.aids.org/topics/human-papillomavirus-hpv/] DOID:75 lymphatic system disease An immune system disease that is located_in the lymphatic system. [url:http\://en.wikipedia.org/wiki/Lymphatic_disease, url:http\://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html] lympoid system disease EXACT [] DOID:750 peptic ulcer disease acute peptic ulcer without hemorrhage AND without perforation (disorder) EXACT [SNOMEDCT_2005_07_31:45485004] DOID:7501 pediatric infratentorial ependymoma DOID:7502 pediatric supratentorial ependymoma pediatric Supratentorial Ependymoblastoma EXACT [NCI2004_11_17:C6772] DOID:7503 extrahepatic bile duct papillary adenoma Papillary adenoma of the extrahepatic bile duct EXACT [NCI2004_11_17:C5849] DOID:7504 mixed embryonal carcinoma and endodermal sinus neoplasm of the testis testicular mixed Embryonal carcinoma and Yolk Sac tumor EXACT [NCI2004_11_17:C8001] DOID:7505 small intestine neoplasm small intestinal neoplasm EXACT [NCI2004_11_17:C4432] DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor DOID:7507 malformation of placenta Variation of placenta form EXACT [SNOMEDCT_2005_07_31:33552005] DOID:7511 breast intraductal papillomatosis Intraductal papillomatosis of the breast EXACT [NCI2004_11_17:C5201] DOID:7512 localized Intraductal papillomatosis DOID:7514 Wolffian adnexal neoplasm DOID:7515 lumbar spinal canal and spinal cord meningioma meningioma of Lumbar Spinal canal and Spinal Cord EXACT [NCI2004_11_17:C5298] DOID:7516 childhood central nervous system mixed germ cell tumor DOID:7517 central nervous system mixed germ cell tumor mixed germ cell tumor of CNS EXACT [NCI2004_11_17:C7016] DOID:7518 inhibited female orgasm female Orgasmic disorder EXACT [NCI2004_11_17:C34958] DOID:7519 endocervical carcinoma carcinoma of the Endocervix EXACT [NCI2004_11_17:C28327] DOID:752 peptic ulcer perforation Unspecified peptic ulcer with perforation (disorder) EXACT [SNOMEDCT_2005_07_31:196700003] DOID:7520 periductal breast myoepitheliosis DOID:7521 breast myoepitheliosis DOID:7522 pediatric infratentorial ependymoblastoma DOID:7526 metastatic neoplasm to the ciliary body metastatic tumor to the Ciliary body EXACT [NCI2004_11_17:C8553] DOID:7527 acute gonococcal endometritis Uterus - acute gonorrhoea EXACT [SNOMEDCT_2005_07_31:186913003] DOID:7528 acute endometritis DOID:7531 anal gland adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] anal glands adenocarcinoma EXACT [NCI2004_11_17:C5609] DOID:7532 squamous papillomatosis DOID:7533 subareolar duct papillomatosis Subareolar duct papillomatosis EXACT [NCI2004_11_17:C9008] DOID:7537 breast cystic hypersecretory carcinoma cystic hypersecretory duct carcinoma of the breast EXACT [NCI2004_11_17:C6869] DOID:7538 breast ductal adenoma DOID:7539 pregnancy adenoma Lactating adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128651002] DOID:754 bladder tuberculosis An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] Tuberculous cystitis EXACT [SNOMEDCT_2005_07_31:186237005] DOID:7540 breast apocrine adenoma DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma DOID:7542 osteosarcoma arising in bone Paget's disease Osteosarcoma Arising in osseous Paget's disease EXACT [NCI2004_11_17:C6469] DOID:7543 recurrent squamous cell carcinoma of the esophagus recurrent squamous cell carcinoma of esophagus EXACT [NCI2004_11_17:C8633] DOID:7544 recurrent esophagus cancer relapsed carcinoma of the esophagus EXACT [NCI2004_11_17:C3999] DOID:7549 ceruminoma Ceruminous adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:52707009] DOID:7551 gonorrhea A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. [url:http\://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm] chronic gonococcal infectious disease of upper genitourinary tract EXACT [] DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements EXACT [] DOID:7554 Paget's disease and intraductal carcinoma of breast Paget's disease of the breast with Intraductal carcinoma EXACT [NCI2004_11_17:C4019] DOID:7555 HIV leukoencephalopathy A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. [url:http\://emedicine.medscape.com/article/1167145-overview, url:http\://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy] Human immunodefiency virus leukoencephalopathy (disorder) EXACT [SNOMEDCT_2005_07_31:230180003] DOID:7558 glossopharyngeal motor neuropathy DOID:7559 asymmetric motor neuropathy DOID:7565 vulvar eccrine porocarcinoma DOID:7566 eccrine porocarcinoma Porocarcinoma EXACT [SNOMEDCT_2005_07_31:128685001] DOID:7567 vulvar clear cell hidradenocarcinoma DOID:7568 adult brain meningioma DOID:757 thyrotoxicosis with toxic single thyroid nodule DOID:7571 malignant cystic nephroma malignant multilocular cystic nephroma EXACT [SNOMEDCT_2005_07_31:128759009] DOID:7574 pancreatic intraductal papillary-colloid carcinoma Intraductal Papillary-mucinous carcinoma of pancreas EXACT [NCI2004_11_17:C5725] DOID:7575 pancreatic intraductal papillary-mucinous neoplasm DOID:7576 metastatic pancreatic adenocarcinoma DOID:7577 pancreatic foamy gland adenocarcinoma DOID:7578 breast scirrhous carcinoma Scirrhous carcinoma of breast (disorder) EXACT [SNOMEDCT_2005_07_31:254839007] DOID:758 situs inversus situs inversus viscerum (disorder) EXACT [SNOMEDCT_2005_07_31:43876007] DOID:7581 psychogenic depressive psychosis Severe major depression with psychotic features (disorder) EXACT [SNOMEDCT_2005_07_31:73867007] DOID:7583 glottis verrucous carcinoma verrucous carcinoma of glottis RELATED [] DOID:7584 subglottis verrucous carcinoma verrucous carcinoma of the subglottis RELATED [] DOID:7585 subglottis squamous cell carcinoma Epidermoid carcinoma of the Subglottis EXACT [NCI2004_11_17:C8187] DOID:7586 supraglottis verrucous carcinoma verrucous carcinoma of the supraglottis RELATED [] DOID:7587 supraglottis squamous cell carcinoma Epidermoid carcinoma of the Supraglottis EXACT [NCI2004_11_17:C4945] DOID:7588 mixed endodermal sinus neoplasm and teratoma of the testis mixed Yolk Sac tumor and teratoma of testis EXACT [NCI2004_11_17:C8002] DOID:7589 ovarian dermoid cyst with melanocytic nevus DOID:759 congenital disorder congenital abnormality EXACT [] DOID:7590 ovarian dermoid cyst with secondary melanocytic lesion DOID:7591 gestational ovarian choriocarcinoma DOID:7593 recurrent pediatric medulloblastoma relapsed pediatric Medulloblastoma EXACT [NCI2004_11_17:C6774] DOID:7596 asbestos-related lung carcinoma DOID:7598 cervical lymphoepithelioma-like carcinoma DOID:7599 lymphoepithelioma-like thymic carcinoma Lymphoepithelioma-like carcinoma of the Thymus EXACT [NCI2004_11_17:C7998] DOID:76 stomach disease A gastrointestinal system disease that is located_in the stomach. [url:http\://en.wikipedia.org/wiki/Stomach_disease] stomach disorder EXACT [NCI2004_11_17:C26886] DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma DOID:7601 advanced malignant pleural mesothelioma Advanced malignant Mesothelioma of Pleura EXACT [NCI2004_11_17:C8706] DOID:7602 intracortical osteogenic sarcoma Intracortical osteosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128774006] DOID:7603 fibrosarcomatous osteosarcoma Fibrosarcomatous Osteogenic sarcoma EXACT [NCI2004_11_17:C4020] DOID:7607 chief cell adenoma Chief cell adenoma of Parathyroid gland EXACT [NCI2004_11_17:C4154] DOID:7608 parathyroid adenoma adenoma of the Parathyroid gland EXACT [NCI2004_11_17:C3916] DOID:7609 parathyroid transitional clear cell adenoma Clear cell adenoma of the Parathyroid EXACT [NCI2004_11_17:C7993] DOID:761 meningococcal endocarditis Meningococcal endocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:34845009] DOID:7610 mixed cell type adenoma of parathyroid mixed cell type adenoma of the Parathyroid gland EXACT [NCI2004_11_17:C7994] DOID:7611 parathyroid oncocytic adenoma DOID:7612 childhood intracortical osteosarcoma DOID:7613 sarcomatosis of the meninges sarcomatosis of meninges EXACT [NCI2004_11_17:C4334] DOID:7614 meninges sarcoma sarcoma of meninges EXACT [NCI2004_11_17:C4073] DOID:7615 sarcomatosis A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss=] sarcomatosis NOS (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189765009] DOID:762 bacterial endocarditis Endocarditis, infective NOS EXACT [MTHICD9_2006:421.0] DOID:763 meningococcal carditis Meningococcal carditis, unspecified EXACT [ICD9CM_2006:036.40] DOID:7631 adult ependymoblastoma DOID:7632 cowper gland carcinoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. [url:http\://en.wikipedia.org/wiki/Cowper_gland] DOID:7633 macular holes Macular hole EXACT [SNOMEDCT_2005_07_31:193388002] DOID:7634 suprasellar meningioma DOID:7635 gasserian ganglion meningioma meningioma of Gasserian Ganglion EXACT [NCI2004_11_17:C6779] DOID:7636 recurrent cancer of small Intestine relapsed carcinoma of the small Intestine EXACT [NCI2004_11_17:C7894] DOID:7638 Paget's disease and invasive ductal carcinoma of breast Paget's disease of breast with Infiltrating ductal carcinoma EXACT [NCI2004_11_17:C7951] DOID:7639 malignant granular cell skin tumor malignant granular cell tumor of skin EXACT [NCI2004_11_17:C5614] DOID:764 meningococcal pericarditis Meningococcal pericarditis (disorder) EXACT [SNOMEDCT_2005_07_31:66704002] DOID:7641 non-resectable small intestine carcinoma Unresectable Small Intestine carcinoma EXACT [NCI2004_11_17:C8638] DOID:7642 cholangiolocellular carcinoma DOID:7643 acantholytic squamous cell skin carcinoma Acantholytic squamous cell skin carcinoma EXACT [NCI2004_11_17:C4460] DOID:7646 multiple spinal canal and spinal cord meningioma Multiple meningiomas of the Spinal canal and Spinal Cord EXACT [NCI2004_11_17:C5275] DOID:7650 pulmonary type ovarian small cell carcinoma DOID:7651 hypercalcemic type ovarian small cell carcinoma DOID:7652 rare cancer-associated syndrome DOID:7656 adult infiltrating astrocytic neoplasm adult Infiltrating astrocytoma EXACT [MTH:NOCODE] DOID:7657 anaplastic astrocytoma of adult Undifferentiated astrocytoma of adult EXACT [NCI2004_11_17:C8257] DOID:7664 endometrial mixed adenocarcinoma DOID:7665 non-gestational ovarian choriocarcinoma DOID:767 muscular atrophy Wasting - muscle EXACT [SNOMEDCT_2005_07_31:268104000] DOID:7671 recurrent penis cancer relapsed carcinoma of penis EXACT [NCI2004_11_17:C7870] DOID:7672 regressing non-cutaneous melanoma DOID:7675 testicular fibroma DOID:7676 testicular thecoma DOID:7677 bone metastatic Ewing's sarcoma metastatic Skeletal Ewing's sarcoma EXACT [NCI2004_11_17:C6621] DOID:7678 sphenoid sinus inverted papilloma Inverted papilloma of the Sphenoid sinus EXACT [NCI2004_11_17:C6841] DOID:7679 sphenoid sinus Schneiderian papilloma Schneiderian papilloma of the Sphenoid sinus EXACT [NCI2004_11_17:C6838] DOID:768 retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. [url:http\://www.cancer.gov/cancertopics/types/retinoblastoma] RB - Retinoblastoma EXACT [SNOMEDCT_2005_07_31:134191003] DOID:7681 mixed choriocarcinoma and teratoma of the testis mixed Choriocarcinoma and teratoma of testis EXACT [NCI2004_11_17:C6349] DOID:7683 dissecting aortic aneurysm DOID:7684 maxillary sinus adenocarcinoma adenocarcinoma of the maxillary sinus EXACT [NCI2004_11_17:C6240] DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma DOID:7689 leptomeninges sarcoma sarcoma of Leptomeninges EXACT [NCI2004_11_17:C8312] DOID:769 neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells. [url:http\://www.cancer.gov/cancertopics/types/neuroblastoma] neuroblastoma (Schwannian Stroma-Poor) EXACT [NCI2004_11_17:C3270] DOID:7693 abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta. [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm] AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 EXACT [] DOID:7694 bladder urachal adenocarcinoma DOID:7696 lung hilum cancer primary malignant neoplasm of hilus of lung (disorder) EXACT [SNOMEDCT_2005_07_31:93827000] DOID:7697 pancreatic ACTH hormone producing tumor pancreatic Adrenocorticotropic Hormone Producing tumor EXACT [NCI2004_11_17:C27466] DOID:7698 non-functioning pancreatic endocrine tumor DOID:77 gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract. [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] GIT disease EXACT [SNOMEDCT_2005_07_31:53619000] DOID:7702 AIDS-related oropharyngeal candidiasis An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. [url:http\://en.wikipedia.org/wiki/Candidiasis] DOID:7704 human papilloma virus related endocervical adenocarcinoma A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. [url:http\://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html, url:http\://www.ncbi.nlm.nih.gov/pubmed/18813124] HPV-Related Endocervical adenocarcinoma EXACT [NCI2004_11_17:C27677] DOID:7706 Cytomegalovirus esophagitis A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. [url:http\://emedicine.medscape.com/article/173272-overview] CMV esophagitis EXACT [] DOID:7707 rectum signet ring adenocarcinoma Signet Ring cell adenocarcinoma of rectum EXACT [NCI2004_11_17:C9168] DOID:7708 perianal skin Paget's disease perianal skin Paget disease EXACT [] DOID:771 retinal cell cancer A malignant neoplasm that derives_from the retina. [url:http\://www.wrongdiagnosis.com/medical/retinal_cancer.htm] DOID:7710 metastatic extraskeletal chondrosarcoma metastatic extraosseous chondrosarcoma EXACT [NCI2004_11_17:C8804] DOID:7712 recurrent adult soft tissue sarcoma An adult sarcoma of soft tissue that derives_form the soft tissues of the body. [URL:http\://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient] relapsed adult sarcoma of the soft tissue EXACT [NCI2004_11_17:C7822] DOID:7713 tuberculum sellae meningioma meningioma of the Tuberculum Sellae EXACT [NCI2004_11_17:C5284] DOID:7714 metastatic malignant hemangiopericytoma DOID:7716 mixed ductal-endocrine carcinoma DOID:7717 colloid carcinoma of the pancreas DOID:7718 osteoclast-like giant cell neoplasm of the pancreas Osteoclast-like Giant cell neoplasm of pancreas EXACT [NCI2004_11_17:C5723] DOID:772 metastasis to the retina metastatic tumor to the Retina EXACT [NCI2004_11_17:C8555] DOID:7724 generalized convulsive epilepsy Generalized convulsive epilepsy, with intractable epilepsy EXACT [] DOID:7725 epilepsy with generalized tonic-clonic seizures An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org] Tonic-clonic epilepsy (disorder) EXACT [SNOMEDCT_2005_07_31:352818000] DOID:7728 chronic allograft arteriopathy DOID:7729 acinar cell cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma EXACT [NCI2004_11_17:C5727] DOID:773 metastasis to eye secondary malignant neoplasm of eye (disorder) EXACT [SNOMEDCT_2005_07_31:94292003] DOID:7731 childhood malignant hemangiopericytoma malignant pediatric hemangiopericytoma EXACT [NCI2004_11_17:C8090] DOID:7732 childhood malignant schwannoma pediatric MPNST EXACT [NCI2004_11_17:C8094] DOID:7733 signet ring cell intrahepatic cholangiocarcinoma DOID:7735 pancreatic colloid cystadenoma mucinous Cystadenoma of pancreas EXACT [NCI2004_11_17:C5718] DOID:7736 retinal telangiectasia DOID:7739 human papilloma virus related penile squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. [url:http\://jco.ascopubs.org/content/25/29/4550.full.pdf+html] warty carcinoma of penis RELATED [] DOID:774 retina lymphoma Retinal Lymphoma EXACT [NCI2004_11_17:C4365] DOID:7747 pediatric extraocular retinoblastoma An extraocular retinoblastoma that effects children. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7] childhood Extraocular Retinoblastoma EXACT [NCI2004_11_17:C9048] DOID:775 intraocular lymphoma primary intraocular lymphoma EXACT [] DOID:7750 adult brain ependymoma DOID:7752 extrahepatic biliary papillomatosis DOID:7753 recurrent cancer of testis relapsed testicular carcinoma EXACT [NCI2004_11_17:C9369] DOID:7754 Chondroid hamartoma of lung pulmonary Chondroid hamartoma EXACT [NCI2004_11_17:C5659] DOID:7756 neonatal leukemia Neonatal Leukemia EXACT [NCI2004_11_17:C3845] DOID:7757 childhood leukemia A leukemia that occurs in children. [url:http\://www.nlm.nih.gov/medlineplus/leukemiachildhood.html] DOID:7762 childhood multilocular cystic kidney neoplasm A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN). [url:http\://radiographics.rsna.org/content/15/3/653.abstract] pediatric Multilocular cystic renal tumor EXACT [NCI2004_11_17:C6566] DOID:7763 carcinoma of supraglottis Supraglottic carcinoma EXACT [NCI2004_11_17:C5973] DOID:7764 subglottis carcinoma Subglottic carcinoma EXACT [NCI2004_11_17:C5972] DOID:7765 Coats disease Exudative retinopathy EXACT [ICD9CM_2006:362.12] DOID:778 delusional disorder A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. [url:http\://en.wikipedia.org/wiki/Delusional_disorder] DOID:7786 mixed choriocarcinoma and embryonal carcinoma of the testis mixed Choriocarcinoma and Embryonal carcinoma of testis EXACT [NCI2004_11_17:C6348] DOID:7787 breast osteosarcoma Osteogenic sarcoma of breast EXACT [NCI2004_11_17:C5189] DOID:7788 adult spinal cord ependymoma DOID:7793 recurrent uterine sarcoma A uterine Corpus sarcoma that has recurred after it has been treated. [url:http\://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx, url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient] relapsed sarcoma of Uterus EXACT [NCI2004_11_17:C8261] DOID:7799 transitional cell carcinoma of the ureter with glandular differentiation ureteral transitional cell carcinoma with glandular differentiation EXACT [NCI2004_11_17:C6157] DOID:780 placenta disease A uterine disease that is located_in the placenta. [url:http\://en.wikipedia.org/wiki/Placenta_disease] DOID:7801 plasmacytoma-like PTLD DOID:7805 nonmetastatic extraskeletal osteosarcoma Non-metastatic extraskeletal Osteogenic sarcoma EXACT [NCI2004_11_17:C8809] DOID:7806 adult spinal cord glioblastoma multiforme Glioblastoma multiforme of spinal cord (disorder) EXACT [SNOMEDCT_2005_07_31:276829003] DOID:7807 choroid necrotic melanoma necrotic Choroid melanoma EXACT [NCI2004_11_17:C6865] DOID:7808 necrotic uveal melanoma DOID:7809 anaplastic giant cell thyroid carcinoma Undifferentiated Giant cell carcinoma of the Thyroid gland EXACT [NCI2004_11_17:C7906] DOID:7810 AIDS-related Cytomegalovirus enterocolitis An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. [url:http\://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false] AIDS-related enterocolitis RELATED [] DOID:7812 Enterovirus gastroenteritis An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. [url:http\://www.ncbi.nlm.nih.gov/pubmed/17033423, url:http\://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf] DOID:7814 Cytomegalovirus colitis A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. [url:http\://emedicine.medscape.com/article/173151-overview, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000667.htm] CMV colitis EXACT [] DOID:7815 recurrent malignant thymoma Thymoma malignant recurrent EXACT [NCI2004_11_17:C7905] DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma DOID:7818 petroclival meningioma DOID:7819 sphenoorbital meningioma DOID:782 renal infectious disease DOID:7820 sphenocavernous meningioma DOID:7824 spinal multifocal clear cell meningioma Multifocal Clear cell meningioma of Spine EXACT [NCI2004_11_17:C5287] DOID:7825 chronic toxic polyneuropathy DOID:7826 adult papillary meningioma DOID:7827 adult extraosseous osteosarcoma An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. [url:http\://jco.ascopubs.org/cgi/content/full/20/2/521] DOID:783 end stage renal failure end stage renal disease EXACT [CSP2005:1682-2922] DOID:7833 cervical papillary squamous cell carcinoma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13678741] DOID:7834 human papilloma virus related cervical squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. [url:http\://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html] human papilloma virus related cervical carcinoma EXACT [] DOID:7836 mixed acinar-endocrine carcinoma mixed acinar-endocrine carcinoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:396891002] DOID:7839 infiltrating nipple syringomatous adenoma DOID:784 chronic kidney failure renal failure - chronic EXACT [SNOMEDCT_2005_07_31:155856009] DOID:7840 pancreatic non-functioning delta cell tumor DOID:7841 pediatric cerebral ependymoblastoma DOID:7843 female breast carcinoma A breast carcinoma that is manifested in the female breast. [url:http\://en.wikipedia.org/wiki/Breast_cancer] Mammary carcinoma of female breast EXACT [NCI2004_11_17:C2918] DOID:7847 vascular hemorrhagic disorder DOID:7848 interdigitating dendritic cell sarcoma A histiocytic and dendritic cell cancer that effect dendritic cells. [url:http\://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma] Interdigitating cell sarcoma EXACT [SNOMEDCT_2005_07_31:128815007] DOID:7849 dendritic cell sarcoma A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. [url:http\://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/] follicular dendritic cell sarcoma RELATED [] DOID:7850 recurrent uvea melanoma recurrent melanoma of Uvea EXACT [NCI2004_11_17:C7914] DOID:7851 pancreatic intraductal papillary-mucinous adenoma DOID:7855 recurrent ovarian germ cell neoplasm relapsed germ cell tumor of Ovary EXACT [NCI2004_11_17:C8087] DOID:786 laryngeal disease DOID:7867 adult central nervous system germinoma germinoma of the adult central nervous system EXACT [NCI2004_11_17:C5792] DOID:7868 maxillary sinus inverted papilloma Inverted papilloma of the maxillary sinus EXACT [NCI2004_11_17:C6840] DOID:7875 adult xanthogranuloma DOID:7878 uterine corpus atypical polypoid adenomyoma DOID:7880 luteoma luteoma of pregnancy EXACT [] DOID:789 hypotony of eye associated with another ocular disorder DOID:7890 testicular spermatocytic seminoma with sarcoma DOID:7891 testicular spermatocytic seminoma DOID:7892 breast adenohibernoma DOID:7894 mite infestation A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. [url:http\://en.wikipedia.org/wiki/Mite] DOID:790 ocular hypotension Hypotony of eye EXACT [ICD9CM_2006:360.3] DOID:7902 adult extraosseous chondrosarcoma DOID:7903 intracranial chondrosarcoma DOID:7907 mixed astrocytoma-ependymoma DOID:791 disorganized schizophrenia in remission Disorganized type schizophrenia, in remission EXACT [ICD9CM_2006:295.15] DOID:7910 maxillary sinus squamous cell carcinoma Epidermoid carcinoma of the Maxillofacial sinus EXACT [NCI2004_11_17:C6064] DOID:7912 mixed oligodendroglioma-astrocytoma WHO grade II mixed glioma EXACT [NCI2004_11_17:C4050] DOID:7915 cervical spinal canal and spinal cord meningioma meningioma of the cervical Spinal canal and Spinal Cord EXACT [NCI2004_11_17:C5296] DOID:7919 nonmetastatic extra-osseous ewing's sarcoma Non-metastatic extraskeletal Ewing's sarcoma EXACT [NCI2004_11_17:C8802] DOID:792 disorganized schizophrenia DOID:7920 central nervous system benign soft tissue neoplasm benign soft tissue tumor of CNS EXACT [NCI2004_11_17:C6757] DOID:7921 benign mediastinal psammomatous neurilemmoma benign Psammomatous Schwannoma of mediastinum EXACT [NCI2004_11_17:C6636] DOID:7922 benign mediastinal neurilemmoma benign Schwannoma of mediastinum EXACT [NCI2004_11_17:C6625] DOID:7926 epithelial malignant thymoma Well differentiated thymic carcinoma EXACT [SNOMEDCT_2005_07_31:128716004] DOID:7927 malignant type A thymoma Thymoma, medullary, malignant EXACT [SNOMEDCT_2005_07_31:128708008] DOID:7928 testis refractory cancer Refractory testicular carcinoma EXACT [NCI2004_11_17:C9077] DOID:793 schizophrenia in remission Unspecified schizophrenia, in remission EXACT [ICD9CM_2006:295.95] DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7931 old burn scar-related squamous cell carcinoma of skin Old Burn Scar-Related squamous cell carcinoma of the skin EXACT [NCI2004_11_17:C27918] DOID:7933 childhood precursor T-lymphoblastic lymphoma/leukemia DOID:7936 precursor T-lymphoblastic lymphoma/leukemia refractory DOID:7938 dyschondroplasia Dyschondroplasia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:205471005] DOID:794 residual schizophrenia in remission Residual schizophrenia, in remission EXACT [ICD9CM_2006:295.65] DOID:7941 Barrett's adenocarcinoma Barrett adenocarcinoma EXACT [] DOID:7945 adult central nervous system mixed germ cell tumor DOID:7946 recurrent cancer of colon recurrent colon carcinoma EXACT [NCI2004_11_17:C3998] DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma DOID:795 residual type schizophrenia Restzustand, schizophrenic EXACT [MTHICD9_2006:295.6] DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma DOID:7953 nipple duct carcinoma A nipple carcinoma that is located_in the nipple duct. [url:http\://www.cancer.gov/dictionary?CdrID=45963] DOID:7956 EBV-related posttransplantation lymphoproliferative disease An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. [url:http\://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm] Epstein-Barr virus related posttransplantation lymphoproliferative disorder EXACT [] DOID:7958 sarcomatoid penile squamous cell carcinoma sarcomatous carcinoma of the penis EXACT [NCI2004_11_17:C6984] DOID:7959 duodenal gastrinoma malignant duodenal gastrinoma EXACT [] DOID:7960 malignant spiradenoma malignant eccrine spiradenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128895006] DOID:7961 cervical non-keratinizing squamous cell carcinoma DOID:7962 tamoxifen-Related endometrial Lesion DOID:7966 type 3 ALPS DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma DOID:7969 nested variant infiltrating bladder urothelial carcinoma DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma DOID:7979 helicobacter pylori-related gastric adenocarcinoma DOID:7983 breast malignant eccrine spiradenoma malignant Eccrine Spiradenoma of the breast EXACT [NCI2004_11_17:C5180] DOID:7984 sclerosing breast papilloma DOID:7986 cerebral falx meningioma Falcine meningioma EXACT [NCI2004_11_17:C5267] DOID:799 varicose veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. [url:http\://www.nlm.nih.gov/medlineplus/varicoseveins.html, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/vv/] Venous varices (disorder) EXACT [SNOMEDCT_2005_07_31:128060009] DOID:7994 central nervous system osteosarcoma DOID:7996 familial glomangioma DOID:7997 thyrotoxicosis A thyroid gland disease that is characterized by excess thyroid hormone. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22394559] DOID:7998 hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone. [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001396/] overactive thyroid EXACT [NCI2004_11_17:C3123] DOID:8000 frontal convexity meningioma DOID:8002 supraglottis neoplasm Supraglottic tumor EXACT [NCI2004_11_17:C6793] DOID:8003 alveoli adenoma Alveolar adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:8097004] DOID:8004 ovarian dermoid cyst with prolactin secreting adenoma DOID:8005 ovarian dermoid cyst with secondary pituitary-type tumor DOID:8006 skin meningioma primary meningioma of the skin EXACT [NCI2004_11_17:C5277] DOID:8007 Pancoast tumor Superior pulmonary sulcus syndrome (disorder) [Ambiguous] EXACT [SNOMEDCT_2005_07_31:80367008] DOID:8009 penis mixed squamous cell carcinoma DOID:801 hemarthrosis Hemarthrosis of upper arm (disorder) EXACT [SNOMEDCT_2005_07_31:56179000] DOID:8011 metastatic fibrosarcoma DOID:8012 benign pericardial teratoma Mature teratoma of Pericardium EXACT [NCI2004_11_17:C6744] DOID:8013 penis papillary carcinoma squamous carcinoma of penis, Papillary type EXACT [NCI2004_11_17:C6983] DOID:8014 ovarian dermoid cyst with corticotropin secreting adenoma DOID:8016 anaplastic ganglioglioma ganglioglioma, anaplastic (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128912009] DOID:8018 renal pelvis and ureter regional transitional cell cancer regional Urothelial carcinoma of the renal Pelvis and Ureter EXACT [NCI2004_11_17:C8168] DOID:8019 renal pelvis and ureter recurrent transitional cell cancer recurrent Urothelial carcinoma of the renal Pelvis and Ureter EXACT [NCI2004_11_17:C8254] DOID:8020 glomangiomyoma DOID:8021 medullary carcinoma with amyloid stroma Parafollicular cell carcinoma with Amyloid Stroma EXACT [NCI2004_11_17:C4193] DOID:8022 liver fibrosarcoma A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] DOID:8023 myxoid liposarcoma of the ovary Myxoid Liposarcoma of Ovary EXACT [NCI2004_11_17:C5235] DOID:8024 male genital tuberculosis Tuberculosis of male genital organs RELATED [] DOID:8025 gastric signet ring cell adenocarcinoma Signet Ring cell adenocarcinoma of the stomach EXACT [NCI2004_11_17:C5250] DOID:8026 intestinal adenocarcinoma of the stomach gastric intestinal type adenocarcinoma EXACT [NCI2004_11_17:C9157] DOID:8029 sporadic breast cancer DOID:8030 periocular meningioma DOID:8031 pineal region meningioma Pineal meningioma EXACT [NCI2004_11_17:C6756] DOID:8036 childhood ovarian embryonal carcinoma An ovarian embryonal carcinoma that occurs in childhood. [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma] pediatric Embryonal carcinoma of Ovary EXACT [NCI2004_11_17:C6546] DOID:8042 testis polyembryoma Polyembryoma of testis EXACT [NCI2004_11_17:C40962] DOID:8043 chest wall parachordoma Parachordoma of the Chest Wall EXACT [NCI2004_11_17:C6720] DOID:8045 recurrent cancer of prostate recurrent prostate carcinoma EXACT [NCI2004_11_17:C7902] DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma DOID:8051 bladder papillary clear cell adenocarcinoma DOID:8055 recurrent urethral cancer A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3] relapsed urethra carcinoma EXACT [NCI2004_11_17:C7508] DOID:8057 olfactory groove meningioma meningioma of the Olfactory Groove EXACT [NCI2004_11_17:C6771] DOID:8058 pituitary stalk meningioma meningioma of the Pituitary Stalk EXACT [NCI2004_11_17:C5311] DOID:8060 frontal sinus inverted papilloma Inverted papilloma of the Frontal sinus EXACT [NCI2004_11_17:C6842] DOID:8068 intraductal breast myoepitheliosis DOID:807 carotid artery occlusion Occlusion and stenosis of carotid artery EXACT [] DOID:8072 sarcomatous intrahepatic cholangiocarcinoma DOID:8078 childhood central nervous system germinoma DOID:8079 monomorphic T-cell PTLD DOID:8080 ovarian mucinous cystic tumor associated with pseudomyxoma peritonei DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8082 cellular congenital mesoblastic nephroma DOID:8083 classic congenital mesoblastic nephroma DOID:8084 cervical squamotransitional carcinoma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. [url:http\://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false] DOID:8087 ovarian dermoid cyst with sebaceous carcinoma DOID:8089 advanced adult primary hepatoma Advanced adult primary Hepatocellular carcinoma EXACT [NCI2004_11_17:C28302] DOID:809 cocaine abuse A substance abuse that involves the recurring use of cocaine despite negative consequences. [url:http\://en.wikipedia.org/wiki/Cocaine_Abuse] DOID:8093 maxillary sinus Schneiderian papilloma Schneiderian papilloma of the maxillary sinus EXACT [NCI2004_11_17:C6839] DOID:8094 cervical condylomatous squamous cell carcinoma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. [url:http\://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/12685182] cervical Warty squamous cell carcinoma EXACT [NCI2004_11_17:C40191] DOID:8096 bladder mixed adenocarcinoma DOID:8097 bladder hepatoid adenocarcinoma DOID:810 HIV-associated lipodystrophy syndrome A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. [url:http\://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome] DOID:8102 fetal adenoma Microfollicular adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:30301008] DOID:8104 vaginal tubulovillous adenoma DOID:8105 extrahepatic bile duct cystadenoma Cystadenoma of the extrahepatic bile duct EXACT [NCI2004_11_17:C5851] DOID:8106 cellular phase chronic idiopathic myelofibrosis DOID:8107 S-T syndrome DOID:8108 fibroepithelial polyp of urethra urethral Fibroepithelial polyp EXACT [NCI2004_11_17:C6170] DOID:8109 nephrogenic adenoma of the urethra Nephrogenic adenoma of urethra EXACT [NCI2004_11_17:C7416] DOID:811 lipodystrophy DOID:8110 periampullary adenocarcinoma DOID:8115 recurrent childhood cerebral astrocytoma DOID:8117 neuronitis DOID:8118 mature gastric teratoma Mature teratoma of stomach EXACT [NCI2004_11_17:C5260] DOID:8119 anal canal Paget's disease Paget's disease of the anal canal EXACT [NCI2004_11_17:C7477] DOID:8120 adenocarcinoma in villous adenoma villous adenomas and adenocarcinomas (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:189624000] DOID:8121 metastatic extra-osseous Ewing's sarcoma metastatic extraskeletal Ewing's sarcoma EXACT [NCI2004_11_17:C8801] DOID:8122 pseudovascular skin squamous cell carcinoma DOID:8125 osteochondrosis An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. [url:http\://medical-dictionary.thefreedictionary.com/osteochondrosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrosis.aspx] Osteochondrosis not specified as adult or juvenile, of unspecified site EXACT [MTHICD9_2006:732.9] DOID:813 septic arthritis An arthritis that involves infection by a pathogen located_in joint. [url:http\://emedicine.medscape.com/article/236299-overview, url:http\://en.wikipedia.org/wiki/Septic_arthritis, url:http\://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm, url:http\://www.mayoclinic.com/health/bone-and-joint-infections/DS00545, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000430.htm] infectious arthritis EXACT [] DOID:8130 breast columnar cell mucinous carcinoma DOID:8131 sclerosing mucoepidermoid thyroid carcinoma with eosinophilia DOID:8133 epiglottis cancer malignant tumor of Epiglottis EXACT [NCI2004_11_17:C4836] DOID:8135 gallbladder lymphoma Lymphoma of the gallbladder EXACT [NCI2004_11_17:C5734] DOID:8136 transitional cell carcinoma of the ureter with mixed differentiation ureteral transitional cell carcinoma with mixed differentiation EXACT [NCI2004_11_17:C6158] DOID:8137 thymus clear cell carcinoma Clear cell carcinoma of the Thymus EXACT [NCI2004_11_17:C6462] DOID:8138 thymus sarcomatoid carcinoma Thymic Carcinosarcoma EXACT [NCI2004_11_17:C6463] DOID:8140 adrenal gland ganglioneuroblastoma DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL with Unmutated IGVH EXACT [NCI2004_11_17:C37204] DOID:8145 metastatic neoplasm to the gallbladder secondary malignant neoplasm of gallbladder (disorder) EXACT [SNOMEDCT_2005_07_31:94312000] DOID:8146 anaplastic secondary supratentorial astrocytic neoplasm Undifferentiated secondary Supratentorial astrocytoma EXACT [NCI2004_11_17:C5416] DOID:8148 recurrent childhood malignant germ cell tumor recurrent childhood malignant germ cell neoplasm EXACT [NCI2004_11_17:C9221] DOID:8149 malignant childhood germ cell neoplasm malignant pediatric germ cell tumor EXACT [NCI2004_11_17:C6541] DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor malignant appendiceal L-cell glucagon-like peptide producing tumor EXACT [] DOID:8152 distal 1/3 of common bile duct adenocarcinoma adenocarcinoma of the Distal 1/3 of the Common bile duct EXACT [NCI2004_11_17:C7976] DOID:8153 fibroosseous pseudotumor of digits Fibroosseous Digital Pseudotumor EXACT [NCI2004_11_17:C6573] DOID:8158 complement component 5 deficiency C5 deficiency EXACT [] DOID:8160 adult desmoplastic small round cell tumor A desmoplastic small round-cell tumor that primarily is located_in the abdomen. [url:http\://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor] DOID:8161 thyroid hurthle cell carcinoma Oncocytic carcinoma of the Thyroid EXACT [NCI2004_11_17:C4946] DOID:8162 thyroid hurthle cell adenoma benign Oncocytoma of the Thyroid EXACT [NCI2004_11_17:C6042] DOID:8163 gallbladder cancer unresectable gallbladder carcinoma Unresectable EXACT [NCI2004_11_17:C7890] DOID:8167 gallbladder melanoma malignant melanoma of gallbladder EXACT [NCI2004_11_17:C5735] DOID:817 interstitial myocarditis Interstitial myocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:37925008] DOID:8170 fibroepithelial polyp of the anus Fibroepithelial polyp of anus EXACT [NCI2004_11_17:C5604] DOID:8177 endocervical type cervical adenomyoma DOID:8178 endometrial type cervical adenomyoma DOID:8179 cervical atypical polypoid adenomyoma DOID:8186 fallopian tube gestational choriocarcinoma Gestational Choriocarcinoma of the fallopian tube EXACT [NCI2004_11_17:C6278] DOID:8187 gestational uterine corpus choriocarcinoma DOID:8188 uterine corpus choriocarcinoma DOID:819 mediastinitis Mediastinitis (disorder) EXACT [SNOMEDCT_2005_07_31:47597000] DOID:8192 recurrent vulva cancer recurrent Vulvar carcinoma EXACT [NCI2004_11_17:C9054] DOID:8193 papillary pattern testicular yolk sac tumor DOID:8194 recurrent pediatric hepatoma recurrent pediatric Hepatocellular carcinoma EXACT [NCI2004_11_17:C9046] DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8197 ovarian dermoid cyst with melanoma DOID:8199 bursa syphilis Syphilis of synovium, tendon, and bursa EXACT [ICD9CM_2006:095.7] DOID:82 myotonic cataract DOID:820 myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. [url:http\://en.wikipedia.org/wiki/Myocarditis] Myocardial inflammation (finding) EXACT [SNOMEDCT_2005_07_31:251060004] DOID:8200 tertiary syphilis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis] late syphilis EXACT [] DOID:8203 sacral spinal canal and spinal cord meningioma meningioma of the Sacral Spinal canal and Spinal Cord EXACT [NCI2004_11_17:C5299] DOID:8205 alloimmunization DOID:8207 hilar lung carcinoma DOID:8208 lung superior sulcus carcinoma Superior Sulcus carcinoma of the lung EXACT [NCI2004_11_17:C7779] DOID:8211 fallopian tube cystadenofibroma DOID:8216 parapharyngeal meningioma DOID:8219 recurrent epithelioid sarcoma relapsed epithelioid sarcoma EXACT [NCI2004_11_17:C5059] DOID:8220 recurrent extraosseous Ewing's sarcoma recurrent extraskeletal Ewing's sarcoma EXACT [NCI2004_11_17:C8803] DOID:8221 upper clivus meningioma meningioma of the Upper Clivus EXACT [NCI2004_11_17:C5290] DOID:8222 adenocarcinoma in tubular adenoma adenocarcinoma in tubular adenoma EXACT [SNOMEDCT_2005_07_31:43233001] DOID:8223 penile urethral cancer DOID:8224 central breast papilloma solitary intraductal breast papilloma EXACT [] DOID:8225 microscopic breast papilloma DOID:8227 atypical breast papilloma DOID:8228 metastatic extraskeletal osteosarcoma metastatic extraskeletal Osteogenic sarcoma EXACT [NCI2004_11_17:C8808] DOID:8229 metastatic small intestinal adenocarcinoma DOID:823 periapical periodontitis Apical periodontitis NOS EXACT [MTHICD9_2006:522.6] DOID:8230 intrahepatic biliary papillomatosis DOID:8233 inflammatory liposarcoma Inflammatory liposarcoma EXACT [SNOMEDCT_2005_07_31:28655007] DOID:8234 malignant hemangiopericytoma recurrent relapsed malignant hemangiopericytoma EXACT [NCI2004_11_17:C9254] DOID:8238 metastatic endometrial carcinoma stage IV cancer of Uterus EXACT [NCI2004_11_17:C4006] DOID:8239 lower clivus meningioma meningioma of the lower Clivus EXACT [NCI2004_11_17:C5288] DOID:824 periodontitis chronic pericementitis EXACT [MTHICD9_2006:523.4] DOID:8243 meningeal melanomatosis Meningeal melanomatosis (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128731008] DOID:8244 bone recurrent PNET recurrent Neuroepithelioma of bone EXACT [NCI2004_11_17:C27354] DOID:8246 breast myoid hamartoma DOID:8251 adult pleomorphic rhabdomyosarcoma DOID:8252 chronic rhinitis A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. [url:http\://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh] Rhinitis - chronic EXACT [SNOMEDCT_2005_07_31:270532004] DOID:8255 vulva fibroepithelial polyp Vulval Fibroepithelial polyp EXACT [NCI2004_11_17:C6857] DOID:8256 olfactory neural tumor DOID:8257 transitional cell carcinoma of the ureter with squamous differentiation ureteral transitional cell carcinoma with squamous differentiation EXACT [NCI2004_11_17:C6156] DOID:8259 bulbomembranous urethral cancer DOID:8269 adenocarcinoma in adenomatous polyposis coli adenocarcinoma in adenomatous polyposis coli (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:57513006] DOID:827 ureter tuberculosis An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. [url:http\://emedicine.medscape.com/article/450651-overview] tuberculosis of ureter EXACT [] DOID:8272 anterior urethra cancer Anterior urethral malignant tumor EXACT [NCI2004_11_17:C7641] DOID:8274 synovial angioma hemangioma of Synovium EXACT [NCI2004_11_17:C6525] DOID:8275 intratubular embryonal carcinoma An embryonal testis carcinoma that is located within a tubule. [url:http\://www.ncbi.nlm.nih.gov/pubmed/11900581] DOID:8276 Hodgkin-like posttransplantation lymphoproliferative disease Hodgkin's-like PTLD EXACT [NCI2004_11_17:C7239] DOID:8281 recurrent malignant peripheral nerve sheath neoplasm relapsed MPNST EXACT [NCI2004_11_17:C8823] DOID:8282 adult epithelioid sarcoma DOID:8283 peritonitis A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. [url:http\://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001335.htm] sclerosing mesenteritis EXACT [] DOID:8285 nonmetastatic epithelioid sarcoma Non-metastatic epithelioid cell sarcoma EXACT [NCI2004_11_17:C8800] DOID:8286 metastatic epithelioid sarcoma metastatic epithelioid cell sarcoma EXACT [NCI2004_11_17:C8799] DOID:8287 Multiple Chondromatous hamartoma of lung Multiple Chondromatous hamartoma of the lung EXACT [NCI2004_11_17:C5663] DOID:8288 clear cell squamous cell skin carcinoma Clear cell squamous cell skin carcinoma EXACT [NCI2004_11_17:C4459] DOID:8289 breast adenolipoma DOID:829 crystal arthropathy Unspecified crystal arthropathy involving upper arm EXACT [ICD9CM_2006:712.92] DOID:8292 atypical follicular adenoma Atypical follicular adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:128892009] DOID:8295 scabies A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm] Sarcoptic itch EXACT [SNOMEDCT_2005_07_31:187215008] DOID:83 cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. [url:http\://en.wikipedia.org/wiki/Cataract, url:http\://www.ncbi.nlm.nih.gov/pubmed/10414631, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001996/] DOID:8302 mixed endometrial stromal and smooth muscle tumor Stromomyoma EXACT [NCI2004_11_17:C40178] DOID:8303 congenital granular cell tumor DOID:8304 lymph node palisaded myofibroblastoma Palisaded Myofibroblastoma of the Lymph Node EXACT [NCI2004_11_17:C6584] DOID:8305 nonossifying fibromyxoid tumor Nonossifying Fibromyxoma EXACT [NCI2004_11_17:C6583] DOID:8307 early invasive cervical adenocarcinoma DOID:8309 metastatic carcinoma from the small bowel metastatic carcinoma from the small Intestine EXACT [NCI2004_11_17:C8637] DOID:8310 sclerosing adenosis of breast Sclerosing breast Adenosis EXACT [NCI2004_11_17:C5205] DOID:8329 resectable small intestine carcinoma Resectable carcinoma of the Small Bowel EXACT [NCI2004_11_17:C8639] DOID:833 auditory system cancer An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. [url:http\://en.wikipedia.org/wiki/Ear, url:http\://www.buzzle.com/articles/ear-cancer.html] tumor of ear EXACT [NCI2004_11_17:C3000] DOID:8331 perineural angioma DOID:8334 testicular intratubular germ cell neoplasia with extratubular extension DOID:8335 microglandular adenosis of breast DOID:8336 childhood choriocarcinoma of the ovary pediatric Choriocarcinoma of Ovary EXACT [NCI2004_11_17:C6549] DOID:8337 appendicitis A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/appendicitis/, url:http\://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018] acute appendicitis with peritoneal abscess (disorder) EXACT [SNOMEDCT_2005_07_31:51036000] DOID:8338 villoglandular variant cervical mucinous adenocarcinoma DOID:8339 intestinal variant cervical mucinous adenocarcinoma DOID:8340 endocervical type cervical mucinous adenocarcinoma DOID:8344 type 1b ALPS DOID:8345 type 2 ALPS DOID:8348 localized PNET of bone localized Neuroepithelioma of bone EXACT [NCI2004_11_17:C27353] DOID:8349 metastatic peripheral neuroepithelioma of bone DOID:8352 aortic malignant tumor aortic malignant neoplasm EXACT [] DOID:8353 epithelioid malignant peripheral nerve sheath tumor malignant epithelioid neoplasm of the peripheral nerve Sheath EXACT [NCI2004_11_17:C6561] DOID:8354 complement component 3 deficiency C3 deficiency EXACT [] DOID:8358 pseudoglandular variant testicular seminoma DOID:8361 glassy cell variant cervical adenosquamous carcinoma A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. [url:http\://www.ncbi.nlm.nih.gov/pubmed/14749637, url:http\://www.ncbi.nlm.nih.gov/pubmed/15318016, url`:http\://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix] DOID:8362 enteric pattern testicular yolk sac tumor DOID:8365 inferior vena cava malignant neoplasm malignant tumor of Inferior Vena Cava EXACT [NCI2004_11_17:C5377] DOID:8366 esophageal adenocarcinoma recurrent relapsed adenocarcinoma of the esophagus EXACT [NCI2004_11_17:C8627] DOID:8368 chordoid meningioma meningioma, chordoid (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:399709001] DOID:8369 adult malignant schwannoma adult MPNST EXACT [NCI2004_11_17:C7814] DOID:8376 mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis EXACT [NCI2004_11_17:C9172] DOID:8381 ectopic calcitonin production Ectopic Calcitonin Secretion EXACT [NCI2004_11_17:C8443] DOID:8382 recurrent endometrial cancer relapsed carcinoma of Endometrium EXACT [NCI2004_11_17:C9072] DOID:8386 ectopic chorionic gonadotropin secretion disease DOID:8387 metastatic non-cutaneous melanoma DOID:8388 mixed embryonal carcinoma and seminoma of the testis mixed Embryonal carcinoma and Seminoma of testis EXACT [NCI2004_11_17:C6350] DOID:8389 lumbar plexus neoplasm tumor of Lumbar Plexus EXACT [NCI2004_11_17:C5824] DOID:8390 mixed choriocarcinoma and seminoma of the testis mixed Choriocarcinoma and Seminoma of testis EXACT [NCI2004_11_17:C9173] DOID:8392 reticular pattern testicular yolk sac tumor DOID:8394 adult type testicular granulosa cell tumor DOID:8398 osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint. [url:http\://en.wikipedia.org/wiki/Osteoarthritis, url:http\://www.mayoclinic.com/health/osteoarthritis/DS00019, url:http\://www.medicinenet.com/osteoarthritis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000423.htm] Osteoarthrosis and allied disorder EXACT [] DOID:8399 trombiculiasis A mite infestation that involves rash caused by Leptotrombidium deliense. [url:http\://en.wikipedia.org/wiki/Trombiculosis] DOID:84 osteochondritis dissecans An ischemic bone disease that results_in necrosis located_in epiphysis. [url:http\://en.wikipedia.org/wiki/Osteochondritis_dissecans, url:http\://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741, url:http\://www.medicinenet.com/osteochondritis_dissecans/article.htm] OCD EXACT [CSP2005:2483-7050] DOID:840 cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. [url:http\://chestjournal.chestpubs.org/content/124/3/1145.full.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf] Suberosis EXACT [ICD9CM_2006:495.3] DOID:8400 malignant cornea melanoma malignant melanoma of cornea (disorder) EXACT [SNOMEDCT_2005_07_31:255009006] DOID:8401 malignant hemangiopericytoma nonmetastatic Non-metastatic malignant hemangiopericytoma EXACT [NCI2004_11_17:C8710] DOID:8408 Meckel's diverticulitis A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. [PMID:17021300, PMID:17579156, url:https\://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis] Meckel's diverticulitis (disorder) EXACT [SNOMEDCT_2005_07_31:48241004] DOID:8409 microinvasive cervical squamous cell carcinoma DOID:841 extrinsic allergic alveolitis An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. [url:http\://www.merck.com/mmhe/sec04/ch051/ch051b.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000109.htm] hypersensitivity pneumonitis EXACT [] DOID:8410 childhood kidney angiomyolipoma pediatric renal Angiomyolipoma EXACT [NCI2004_11_17:C6565] DOID:8411 kidney angiomyolipoma renal Angiomyolipoma EXACT [NCI2004_11_17:C3888] DOID:8413 recurrent extraskeletal osteosarcoma relapsed extraskeletal Osteosarcoma EXACT [NCI2004_11_17:C8811] DOID:8415 carcinoma arising in nasal papillomatosis DOID:8418 congenital fibrosarcoma Infantile fibrosarcoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:52040006] DOID:8419 colloid adenoma Macrofollicular adenoma (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:26545006] DOID:8420 malignant glandular tumor of peripheral nerve sheath glandular MPNST EXACT [NCI2004_11_17:C6560] DOID:8426 follicular infundibulum tumor tumor of follicular infundibulum (disorder) EXACT [SNOMEDCT_2005_07_31:254694002] DOID:8427 retinal melanoma malignant Retinal melanoma EXACT [NCI2004_11_17:C8601] DOID:8428 breast apocrine carcinoma in situ Apocrine carcinoma in situ of the breast EXACT [NCI2004_11_17:C5140] DOID:8429 testicular seminoma with syncytiotrophoblastic cells DOID:8431 physiological polycythemia DOID:8432 polycythemia Erythrocythemia EXACT [SNOMEDCT_2005_07_31:165401000] DOID:8433 thyroid malformation DOID:8435 Drug dependence complicating pregnancy, childbirth, or the puerperium Pregnancy and drug dependence (disorder) EXACT [SNOMEDCT_2005_07_31:237228001] DOID:8437 intestinal obstruction DOID:8438 afferent loop syndrome Afferent loop syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:20813000] DOID:8439 postgastrectomy syndrome Postgastric surgery syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:80193009] DOID:844 chronic depressive disorder chronic depressive personality disorder EXACT [ICD9CM_2006:301.12] DOID:8440 ileus Ileus of intestine EXACT [MTHICD9_2006:560.1] DOID:8442 paralytic ileus Paralytic ileus (disorder) EXACT [SNOMEDCT_2005_07_31:55525008] DOID:8443 brachial plexus lesion A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. [url:http\://en.wikipedia.org/wiki/Brachial_plexus_injury, url:http\://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html] Brachial plexus lesions NOS (disorder) EXACT [SNOMEDCT_2005_07_31:193109004] DOID:8444 nerve root and plexus disorder DOID:8445 intestinal volvulus Volvulus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:197061002] DOID:8446 intussusception Invagination of intestine or colon EXACT [MTHICD9_2006:560.0] DOID:8448 intestinal impaction DOID:8449 vitamin B deficiency DOID:845 cyclothymic disorder A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. [url:http\://en.wikipedia.org/wiki/Mood_disorder] Cyclothymic personality EXACT [SNOMEDCT_2005_07_31:268756002] DOID:8451 vitamin deficiency Avitaminosis, NOS EXACT [SNOMEDCT_2005_07_31:85670002] DOID:8452 malnutrition DOID:8453 folic acid deficiency Folic acid deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:190633005] DOID:8454 ariboflavinosis vitamin B2 deficiency EXACT [MTHICD9_2006:266.0] DOID:8455 pyridoxine deficiency anemia vitamin B6 deficiency syndrome EXACT [MTHICD9_2006:266.1] DOID:8456 choline deficiency disease Choline deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:238113006] DOID:8457 pellagra Pellagra (disorder) EXACT [SNOMEDCT_2005_07_31:56550003] DOID:8458 Thiamine and niacin deficiency state DOID:8459 vitamin B 12 deficiency vitamin B12 deficiency EXACT [CSP2005:2116-7456] DOID:846 arthropathy associated with hematological disorder DOID:8461 Aicardi syndrome A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. [url:http\://en.wikipedia.org/wiki/Aicardi_syndrome, url:http\://ghr.nlm.nih.gov/condition/aicardi-syndrome] DOID:8463 corneal ulcer DOID:8464 flat retinoschisis DOID:8465 retinoschisis DOID:8466 retinal degeneration RETINA degeneration EXACT [MTH:649] DOID:8467 Retinoschisis and retinal cysts DOID:8469 influenza A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. [url:http\://www.merck.com/mmhe/sec17/ch198/ch198d.html, url:http\://www.who.int/mediacentre/factsheets/2003/fs211/en/] Influenza with other manifestations NOS (disorder) EXACT [SNOMEDCT_2005_07_31:195930009] DOID:8472 localized scleroderma Unspecified circumscribed scleroderma (disorder) EXACT [SNOMEDCT_2005_07_31:201047002] DOID:8476 Whipple disease Whipple's disease (disorder) EXACT [SNOMEDCT_2005_07_31:41545003] DOID:8477 malabsorption syndrome DOID:8478 actinomycosis A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. [url:http\://accessmedicine.com/resourceTOC.aspx?resourceID=4, url:http\://emedicine.medscape.com/article/211587-overview, url:http\://en.wikipedia.org/wiki/Actinomycosis] Madura foot due to Actinomadura (disorder) EXACT [SNOMEDCT_2005_07_31:37431000] DOID:848 arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. [ls:IEDB, url:http\://arthritis.webmd.com/, url:http\://en.wikipedia.org/wiki/Arthritis, url:http\://www.arthritis.org/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001243.htm] Inflammatory disorder of joint EXACT [SNOMEDCT_2005_07_31:363178003] DOID:8481 rheumatic myocarditis Rheumatoid myocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:195136004] DOID:8482 transient retinal arterial occlusion Transient retinal arterial occlusion EXACT [ICD9CM_2006:362.34] DOID:8483 retinal artery occlusion Retinal artery occlusion (disorder) EXACT [SNOMEDCT_2005_07_31:232035005] DOID:8484 maple bark strippers' lung An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. [url:http\://nt.ars-grin.gov/fungaldatabases/, url:http\://www.ncbi.nlm.nih.gov/pubmed/2735559] Maple-bark strippers' lung (disorder) EXACT [SNOMEDCT_2005_07_31:86638007] DOID:8485 mucormycosis An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000649.htm] Zygomycosis, unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:187496006] DOID:8487 secondary retinal cyst secondary retinal cysts (disorder) EXACT [SNOMEDCT_2005_07_31:193334007] DOID:8488 polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. [url:http\://en.wikipedia.org/wiki/Polyhydramnios] DOID:8489 disorder of amniotic fluid and membranes DOID:849 rheumatoid lung disease Rheumatoid lung EXACT [SNOMEDCT_2005_07_31:155621007] DOID:8490 primary hypotonic uterine dysfunction primary uterine inertia, with delivery EXACT [ICD9CM_2006:661.01] DOID:8491 Prolonged first stage of labor DOID:8493 abnormality of forces of labor DOID:8494 dystocia DOID:8495 prolonged labor DOID:8498 hereditary night blindness Oguchi's disease EXACT [MTHICD9_2006:368.61] DOID:8499 night blindness DOID:850 lung disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. [url:http\://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000066.htm] DOID:8500 hereditary retinal dystrophy DOID:8501 fundus dystrophy Retinal Dystrophy EXACT [NCI2004_11_17:C35625] DOID:8502 bullous skin disease An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. [url:http\://en.wikipedia.org/wiki/Dermatitis_herpetiformis] DOID:8503 impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. [url:http\://en.wikipedia.org/wiki/Impetigo_herpetiformis] Impetigo herpetiformis (disorder) EXACT [SNOMEDCT_2005_07_31:65539006] DOID:8504 impetigo A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. [url:http\://gsbs.utmb.edu/microbook/ch098.htm] DOID:8505 dermatitis herpetiformis Duhring's disease EXACT [CSP2005:4008-0032] DOID:8506 bullous pemphigoid An autoimmune disease of skin and connective tissue characterized by large blisters. [sn:IEDB] Bullous pemphigoid (disorder) EXACT [SNOMEDCT_2005_07_31:77090002] DOID:8507 juvenile dermatitis herpetiformis Juvenile dermatitis herpetiformis (disorder) EXACT [SNOMEDCT_2005_07_31:5906000] DOID:8508 subcorneal pustular dermatosis Subcorneal pustular dermatosis (disorder) EXACT [SNOMEDCT_2005_07_31:25147002] DOID:851 Bartholin's duct cyst Cyst of Bartholin's gland duct EXACT [SNOMEDCT_2005_07_31:57044006] DOID:8512 puerperal pulmonary embolism DOID:8514 acute pulmonary heart disease acute pulmonary heart disease NOS (disorder) EXACT [SNOMEDCT_2005_07_31:194884000] DOID:8515 Cor pulmonale A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. [url:http\://en.wikipedia.org/wiki/Cor_pulmonale, url:http\://en.wikipedia.org/wiki/Heart_disease] pulmonary heart disease EXACT [SNOMEDCT_2005_07_31:155323004] DOID:8516 pulmonary embolism and infarction DOID:8517 acute cor pulmonale acute cor pulmonale (disorder) EXACT [SNOMEDCT_2005_07_31:49584005] DOID:8519 barbiturate abuse A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. [url:http\://en.wikipedia.org/wiki/Barbiturate] DOID:8521 recurrent manic episodes DOID:8523 nodular lymphoma involving lymph nodes of axilla and upper limb nodular lymphoma of lymph nodes of axilla and upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:95189004] DOID:8524 nodular lymphoma nodular lymphoma (Brill - Symmers disease) EXACT [SNOMEDCT_2005_07_31:188607003] DOID:8525 nodular lymphoma involving intra-abdominal lymph nodes DOID:8527 monocytic leukemia Schilling's leukemia EXACT [CSP2005:2004-2820] DOID:8529 ulcer of lower limbs Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer] Ulcer of thigh EXACT [] DOID:853 polymyalgia rheumatica Polymyalgia rheumatica [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:267988003] DOID:8530 toxic gastroenteritis and colitis DOID:8533 hypopharynx cancer A pharynx cancer that is located_in the hypopharynx. [url:http\://en.wikipedia.org/wiki/Hypopharynx] malignant tumour of hypopharynx EXACT [SNOMEDCT_2005_07_31:187717004] DOID:8534 gastroesophageal reflux disease GERD - Gastro-esophageal reflux disease EXACT [SNOMEDCT_2005_07_31:235595009] DOID:8535 ophthalmic herpes zoster A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. [url:http\://emedicine.medscape.com/article/783223-overview] Ophthalmic herpes zoster infection EXACT [SNOMEDCT_2005_07_31:186526008] DOID:8536 herpes zoster A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. [url:http\://en.wikipedia.org/wiki/Herpes_zoster, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000858.htm] Shingles EXACT [SNOMEDCT_2005_07_31:186514003] DOID:8538 reticulosarcoma large-cell Lymphomas EXACT [MTH:NOCODE] DOID:8539 recurrent manic episodes in full remission recurrent manic episodes, in full remission (disorder) EXACT [SNOMEDCT_2005_07_31:191597008] DOID:854 collagen disease collagen disorder EXACT [CSP2005:0729-7550] DOID:8540 Sezary's disease involving lymph nodes of head, face, and neck Szary's disease of lymph nodes of head, face and/or neck (disorder) EXACT [SNOMEDCT_2005_07_31:95260009] DOID:8541 Sezary's disease Sezary syndrome EXACT [MTH:U002240] DOID:8542 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:93496009] DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance Lymphocyte Rich Hodgkin's disease EXACT [NCI2004_11_17:C6913] DOID:8544 chronic fatigue syndrome A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. [url:http\://en.wikipedia.org/wiki/Chronic_fatigue_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/?term=Chronic%20fatigue%20syndrome] Postviral fatigue syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:51771007] DOID:8545 malignant hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. [url:http\://en.wikipedia.org/wiki/Malignant_hyperthermia] malignant hyperpyrexia due to anesthesia EXACT [MTHICD9_2006:995.86] DOID:8549 chronic ulcer of skin Indolent ulcer (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:296375005] DOID:8552 chronic myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells. [url:http\://www.cancer.gov/dictionary?CdrID=46755] Myeloid Leukemia, chronic EXACT [MTH:NOCODE] DOID:8553 pyoderma gangrenosum Pyoderma gangrenosum (disorder) EXACT [SNOMEDCT_2005_07_31:74578003] DOID:8556 vallecula cancer malignant tumor of vallecula (disorder) EXACT [SNOMEDCT_2005_07_31:363395000] DOID:8557 oropharynx cancer A pharynx cancer that is located_in the oropharynx. [url:http\://www.cancer.gov/dictionary?CdrID=446523] primary malignant neoplasm of lateral wall of oropharynx EXACT [SNOMEDCT_2005_07_31:93862005] DOID:8559 carcinoma in situ of female genital organs carcinoma in situ of other and unspecified female genital organs (disorder) EXACT [SNOMEDCT_2005_07_31:189344000] DOID:856 biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase. [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241] Late-onset multiple carboxylase deficiency EXACT [] DOID:8560 carcinoma in situ of breast and genitourinary system carcinoma in situ of breast and genitourinary system (disorder) EXACT [SNOMEDCT_2005_07_31:189335001] DOID:8564 lip cancer malignant tumour of lip EXACT [SNOMEDCT_2005_07_31:93869001] DOID:8566 herpes simplex A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html] Herpesvirus hominis disease EXACT [CSP2005:3099-9580] DOID:8567 Hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. [url:v] stage II Subdiaphragmatic Hodgkin Lymphoma EXACT [NCI2004_11_17:C5010] DOID:8568 infectious mononucleosis A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. [url:http\://en.wikipedia.org/wiki/Infectious_mononucleosis, url:http\://www.cdc.gov/ncidod/diseases/ebv.htm] Pfeiffer's disease (disorder) EXACT [SNOMEDCT_2005_07_31:314131007] DOID:857 multiple carboxylase deficiency An amino acid metabolic disorder that involves failures of carboxylation enzymes. [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148] DOID:8573 lichen nitidus Pinkus' disease EXACT [MTHICD9_2006:697.1] DOID:8574 lichen disease DOID:8577 ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. [MSH:D003093, url:http\://en.wikipedia.org/wiki/Ulcerative_colitis] Left-sided ulcerative colitis EXACT [MTHICD9_2006:556.5] DOID:8578 soft palate cancer malignant tumor of the soft Palate EXACT [NCI2004_11_17:C3529] DOID:8580 malignant histiocytosis Stewart's granuloma EXACT [SNOMEDCT_2005_07_31:277648007] DOID:8583 Burkitt's tumor or lymphoma involving intrathoracic lymph nodes Burkitt's lymphoma of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188511002] DOID:8584 Burkitt lymphoma A mature B-cell neoplasm of B-cells found in the germinal center. [url:http\://en.wikipedia.org/wiki/Burkitt%27s_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45203] small Non-Cleaved cell Lymphoma, Burkitt's type EXACT [NCI2004_11_17:C2912] DOID:8586 dysplasia of cervix Moderate squamous Dysplasia of the Cervix EXACT [NCI2004_11_17:C40198] DOID:8587 Burkitt's tumor or lymphoma extranodal and solid organ sites DOID:859 holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency] Multiple carboxylase deficiency - neonatal onset (disorder) EXACT [SNOMEDCT_2005_07_31:360367001] DOID:8590 acute vascular insufficiency of intestine acute intestinal vascular insufficiency EXACT [SNOMEDCT_2005_07_31:196998009] DOID:8592 reticulosarcoma involving lymph nodes of inguinal region and lower limb Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:188493000] DOID:8593 chronic monocytic leukemia DOID:8596 scarlet fever An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever] Scarlatina EXACT [MTHICD9_2006:034.1] DOID:8598 mild degree recurrent episode manic disorder DOID:8599 Sezary's disease involving lymph nodes of inguinal region and lower limb Szary's disease of lymph nodes of inguinal region and/or lower limb EXACT [SNOMEDCT_2005_07_31:95261008] DOID:8600 carcinoid syndrome Hormone secretion by carcinoid tumors EXACT [MTHICD9_2006:259.2] DOID:8601 upper gum cancer malignant tumour of upper gum EXACT [SNOMEDCT_2005_07_31:94114005] DOID:8602 gum cancer malignant tumour of gingiva EXACT [SNOMEDCT_2005_07_31:93819009] DOID:8604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:188560007] DOID:8607 herpetic whitlow A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. [url:http\://en.wikipedia.org/wiki/Herpetic_whitlow] Herpetic whitlow (disorder) EXACT [SNOMEDCT_2005_07_31:43891009] DOID:8609 moderate degree recurrent episode manic disease DOID:8611 drug induced sleep disorder DOID:8615 spontaneous abortion complicated by shock spontaneous abortion, unspecified, complicated by shock EXACT [] DOID:8616 Peyronie's disease Peyronie's Fibromatosis EXACT [NCI2004_11_17:C3316] DOID:8618 oral cavity cancer A gastrointestinal system cancer that is located_in the oral cavity. [url:http\://en.wikipedia.org/wiki/Oral_cancer] malignant tumor of the Floor of the Mouth EXACT [NCI2004_11_17:C9318] DOID:8619 recurrent hypersomnia A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. [url:http\://en.wikipedia.org/wiki/Hypersomnia] primary recurrent hypersomnia EXACT [] DOID:862 diplegia of upper limb Diplegia, upper EXACT [MTHICD9_2006:344.2] DOID:8620 reticulosarcoma involving intrapelvic lymph nodes Reticulosarcoma of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95225003] DOID:8622 measles A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [url:http\://en.wikipedia.org/wiki/Measles] morbilli EXACT [CSP2005:3100-0554] DOID:8623 adhesions and disruptions of pupillary membranes DOID:8625 postherpetic trigeminal neuralgia A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. [url:http\://www.jmedicalcasereports.com/content/3/1/7813, url:http\://www.merckmanuals.com/home/sec06/ch096/ch096e.html] Post-herpetic trigeminal neuralgia (disorder) EXACT [SNOMEDCT_2005_07_31:17974002] DOID:8626 Sezary's disease involving spleen Szary's disease of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:95263006] DOID:8627 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb RELATED [] DOID:8628 Hodgkin's lymphoma, lymphocytic depletion Lymphocyte-Depleted Classical Hodgkin Lymphoma EXACT [NCI2004_11_17:C9283] DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. [url:http\://en.wikipedia.org/wiki/Nervous_system] DOID:8630 upper lip cancer DOID:8632 Kaposi's sarcoma A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). [url:http\://cancerres.aacrjournals.org/content/58/8/1599.full.pdf, url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma] soft tissue Kaposi's sarcoma EXACT [] DOID:8633 chronic intestinal vascular insufficiency CMI - chronic mesenteric ischaemia EXACT [SNOMEDCT_2005_07_31:241154007] DOID:8634 prostate carcinoma in situ PIN III EXACT [SNOMEDCT_2005_07_31:128640002] DOID:8635 uvula cancer malignant Uvular tumor EXACT [NCI2004_11_17:C35177] DOID:8638 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:188556009] DOID:8639 alcohol withdrawal delirium Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder) EXACT [SNOMEDCT_2005_07_31:192211007] DOID:864 phlebitis A vein disease that is characterized by inflammation of a vein. [url:http\://en.wikipedia.org/wiki/Phlebitis] DOID:8640 reticulosarcoma involving lymph nodes of multiple sites Reticulosarcoma of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:95230004] DOID:8641 Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:93541001] DOID:8642 Hodgkin's paragranuloma Hodgkin paragranuloma EXACT [] DOID:8643 duodenitis Hemorrhagic duodenitis EXACT [MTH:NOCODE] DOID:8644 gastroduodenitis DOID:8645 subacute delirium Subacute delirium (disorder) EXACT [SNOMEDCT_2005_07_31:191507002] DOID:8646 substance-induced psychosis DOID:8649 tongue cancer Tongue neoplasm malignant stage Unspecified EXACT [NCI2004_11_17:C9345] DOID:865 vasculitis A vascular disease that is characterized by inflammation of the blood vessels. [url:http\://en.wikipedia.org/wiki/Vasculitis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/vas/, url:http\://www.nlm.nih.gov/medlineplus/vasculitis.html] Angiitis EXACT [SNOMEDCT_2005_07_31:266325003] DOID:8650 Hodgkin's granuloma involving intrapelvic lymph nodes Hodgkin's granuloma of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93530003] DOID:8651 Hodgkin's granuloma Hodgkin's granuloma, unspecified site, extranodal and solid organ sites EXACT [] DOID:8653 Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes RELATED [] DOID:8654 Hodgkin's lymphoma, mixed cellularity MCHL EXACT [NCI2004_11_17:C3517] DOID:8656 Sezary's disease involving lymph nodes of multiple sites DOID:8659 chickenpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. [url:http\://www.nlm.nih.gov/medlineplus/chickenpox.html] varicella EXACT [CSP2005:3099-9437] DOID:866 vein disease A vascular disease that is located_in a vein. [url:http\://en.wikipedia.org/wiki/Vein#Venous_diseases] DOID:8660 postcricoid region cancer malignant tumor of pharyngoesophageal junction EXACT [SNOMEDCT_2005_07_31:363400004] DOID:8661 lip carcinoma in situ DOID:8662 carcinoma in situ of digestive organ A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] carcinoma in situ of other and unspecified digestive organs (disorder) EXACT [SNOMEDCT_2005_07_31:189248004] DOID:8663 aryepiglottic fold cancer malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder) EXACT [SNOMEDCT_2005_07_31:187708004] DOID:8664 nodular lymphoma involving intrapelvic lymph nodes nodular lymphoma of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95187002] DOID:8667 Hodgkin's sarcoma involving intra-abdominal lymph nodes Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93547002] DOID:867 maxillary sinus cholesteatoma A cholesteatoma located_in paranasal sinus. [PMID:1503726] DOID:8670 eating disorder A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. [url:http\://en.wikipedia.org/wiki/Eating_disorder] DOID:8672 viral exanthem DOID:8674 lymphosarcoma involving intrapelvic lymph nodes DOID:8675 lymphosarcoma malignant lymphoma (category) EXACT [SNOMEDCT_2005_07_31:115244002] DOID:8676 malignant histiocytosis involving lymph nodes of multiple sites malignant histiocytosis of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:93188005] DOID:8677 perinatal necrotizing enterocolitis Pseudomembranous enterocolitis in newborn EXACT [MTHICD9_2006:777.5] DOID:8680 alcoholic gastritis Alcoholic gastritis, without mention of hemorrhage EXACT [] DOID:8681 paraneoplastic polyneuropathy polyneuropathy in malignant disease EXACT [] DOID:8683 myeloid sarcoma Myeloid sarcoma, morphology (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:35287006] DOID:8687 skin carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] Cutaneous carcinoma in situ EXACT [NCI2004_11_17:C3640] DOID:8688 tonsillar pillar cancer malignant tumour of tonsillar pillar EXACT [SNOMEDCT_2005_07_31:187676006] DOID:8689 anorexia nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. [url:http\://en.wikipedia.org/wiki/Anorexia_nervosa] DOID:869 cholesteatoma A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. [PMID:26223725, url:https\://en.wikipedia.org/wiki/Cholesteatoma] DOID:8690 Mycosis fungoides involving lymph nodes of head, face, and neck Mycosis fungoides of the lymph nodes of head, face and neck (disorder) EXACT [SNOMEDCT_2005_07_31:188619006] DOID:8691 mycosis fungoides Mycosis fungoides, unspecified site, extranodal and solid organ sites EXACT [] DOID:8692 myeloid leukemia A leukemia that is located_in myeloid tissue. [url:http\://en.wikipedia.org/wiki/Myeloid_leukemia] Unspecified myeloid leukemia without mention of remission EXACT [] DOID:8696 subacute monocytic leukemia DOID:870 neuropathy A nervous system disease that is located_in nerves or nerve cells. [url:http\://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29] DOID:8701 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder) EXACT [SNOMEDCT_2005_07_31:93497000] DOID:8702 cheek mucosa cancer malignant tumor of buccal mucosa (disorder) EXACT [SNOMEDCT_2005_07_31:363386008] DOID:8703 penis herpetic infectious disease A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. [url:http\://kidshealth.org/parent/infections/std/herpes.htm] Herpetic infection of penis (disorder) EXACT [SNOMEDCT_2005_07_31:10227000] DOID:8704 genital herpes A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. [url:http\://www.cdc.gov/std/herpes/stdfact-herpes.htm] Virus-Genital Herpes EXACT [NCI2004_11_17:C14364] DOID:8712 neurofibromatosis von Reklinghausen disease EXACT [] DOID:8716 lymphosarcoma and reticulosarcoma Other named variants of lymphosarcoma and reticulosarcoma, unspecified site EXACT [] DOID:8717 decubitus ulcer Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bedsore] pressure ulcer EXACT [CSP2005:2718-0434] DOID:8718 carcinoma in situ of respiratory system A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] carcinoma in situ of respiratory tract (disorder) EXACT [SNOMEDCT_2005_07_31:92698005] DOID:8719 in situ carcinoma A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] DOID:872 soft tissue disease tissue disease EXACT [] DOID:8725 vascular dementia A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. [url:http\://www.mayoclinic.com/health/vascular-dementia/DS00934, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm] multifocal dementia EXACT [CSP2005:0485-6862] DOID:8729 milker's nodule A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. [url:http\://emedicine.medscape.com/article/1132823-overview, url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf] Pseudocowpox RELATED [ICD9CM_2006:051.1] DOID:873 anaerobic pneumonia An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg] pneumonia due to anaerobes EXACT [] DOID:8731 carotid body cancer A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. [url:http\://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm] malignant carotid body tumor (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:16822006] DOID:8736 smallpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. [url:http\://www.who.int/mediacentre/factsheets/smallpox/en/] Ordinary smallpox EXACT [SNOMEDCT_2005_07_31:47452006] DOID:8738 leukoplakia of penis Penile Leukoplakia EXACT [NCI2004_11_17:C3151] DOID:874 bacterial pneumonia A pneumonia involving inflammation of the lungs caused by bacteria. [url:http\://en.wikipedia.org/wiki/Bacterial_pneumonia] Pneumonia due to other gram-negative bacteria EXACT [ICD9CM_2006:482.83] DOID:8741 seborrheic dermatitis A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm] SKIN SEBORRHEIC EXACT [MTH:NOCODE] DOID:8742 Hodgkin's granuloma involving lymph nodes of head, face, and neck Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder) EXACT [SNOMEDCT_2005_07_31:93533001] DOID:8743 erythema infectiosum Fifth disease EXACT [SNOMEDCT_2005_07_31:154344005] DOID:8745 universal ulcerative colitis universal ulcerative (chronic) colitis EXACT [] DOID:8747 subacute myeloid leukemia Atypical CML EXACT [NCI2004_11_17:C3519] DOID:8748 acute dermatitis due to solar radiation DOID:8749 actinic reticuloid and actinic granuloma DOID:8751 Hodgkin's granuloma involving intrathoracic lymph nodes DOID:8752 tuberculous pneumonia A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. [url:http\://chestjournal.chestpubs.org/content/71/6/774.full.pdf, url:http\://www.bmj.com/cgi/reprint/1/4608/741.pdf] tuberculous bronchopneumonia EXACT [] DOID:8754 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93498005] DOID:8757 gastric mucosal hypertrophy MENETRIER DISEASE EXACT [] DOID:8758 lymphosarcoma involving lymph nodes of multiple sites DOID:876 pyomyositis Tropical pyomyositis EXACT [ICD9CM_2006:040.81] DOID:8761 megakaryocytic leukemia A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. [url:http\://medical-dictionary.thefreedictionary.com/megakaryocytic+leukemia] Thrombocytic leukaemia EXACT [SNOMEDCT_2005_07_31:190065009] DOID:8762 Herpes simplex virus otitis externa A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. [url:http\://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg] Herpes simplex otitis externa (disorder) EXACT [SNOMEDCT_2005_07_31:111856000] DOID:8765 Herpes simplex virus septicemia A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001355.htm] visceral herpes simplex EXACT [] DOID:8766 lymphosarcoma involving intra-abdominal lymph nodes DOID:8767 malignant histiocytosis involving lymph nodes of axilla and upper limb DOID:8768 nodular lymphoma involving spleen DOID:8769 malignant histiocytosis involving lymph nodes of inguinal region and lower limb malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93187000] DOID:8770 reticulosarcoma involving intra-abdominal lymph nodes Reticulosarcoma of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95224004] DOID:8771 contagious pustular dermatitis A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. [url:http\://en.wikipedia.org/wiki/Orf_%28disease%29, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm] thistle disease EXACT [] DOID:8773 nodular lymphoma involving lymph nodes of head, face, and neck nodular lymphoma of lymph nodes of head, face, and neck (disorder) EXACT [SNOMEDCT_2005_07_31:95190008] DOID:8775 ulcerative proctosigmoiditis ulcerative proctosigmoiditis EXACT [MTHICD9_2006:556.3] DOID:8778 Crohn's disease An intestinal disease that involves inflammation located_in intestine. [url:http\://en.wikipedia.org/wiki/Chron%27s_disease] Pediatric Crohn's disease EXACT [MSH:C536215] DOID:8781 rubella A viral infectious disease that results_in infection located_in skin, 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 rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. [url:http\://en.wikipedia.org/wiki/Rubella] german measles EXACT [SNOMEDCT_2005_07_31:266192003] DOID:8785 postherpetic polyneuropathy A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. [url:http\://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277] DOID:8787 disseminated chorioretinitis DOID:8791 breast carcinoma in situ Non-Infiltrating carcinoma of breast EXACT [NCI2004_11_17:C3641] DOID:8792 eye carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] carcinoma in situ of eye (disorder) EXACT [SNOMEDCT_2005_07_31:92590009] DOID:8794 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder) EXACT [SNOMEDCT_2005_07_31:188555008] DOID:8795 Hodgkin's granuloma involving spleen Hodgkin's granuloma of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:93536009] DOID:8798 Hodgkin's lymphoma, mixed cellularity, involving spleen Hodgkin's disease, mixed cellularity, involving spleen RELATED [] DOID:8800 lung carcinoma in situ carcinoma in situ of bronchus or lung NOS (disorder) EXACT [SNOMEDCT_2005_07_31:189268005] DOID:8802 trachea carcinoma in situ Tracheal carcinoma In situ EXACT [NCI2004_11_17:C3639] DOID:8803 repetitive intrusions of sleep Repetitive intrusions of sleep (disorder) EXACT [SNOMEDCT_2005_07_31:268654005] DOID:8805 intermediate coronary syndrome Worsening angina EXACT [SNOMEDCT_2005_07_31:194819001] DOID:8806 malignant histiocytosis involving intrapelvic lymph nodes malignant histiocytosis of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93183001] DOID:8807 allergic gastroenteritis and colitis DOID:8811 malignant histiocytosis involving intrathoracic lymph nodes malignant histiocytosis of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93184007] DOID:8812 Measles virus otitis media A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. [url:http\://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false] postmeasles otitis media EXACT [] DOID:882 heterophyiasis A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm] heterophyes infectious disease EXACT [] DOID:8820 ulcerative ileocolitis ulcerative (chronic) ileocolitis EXACT [] DOID:8825 Hodgkin's paragranuloma involving spleen Hodgkin's paragranuloma of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:93545005] DOID:8826 colon carcinoma in situ stage 0 Colonic carcinoma EXACT [NCI2004_11_17:C3638] DOID:8828 systemic inflammatory response syndrome systemic inflammatory response syndrome, unspecified EXACT [ICD9CM_2006:995.90] DOID:883 parasitic helminthiasis infectious disease A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. [url:http\://en.wikipedia.org/wiki/Helminth, url:http\://en.wikipedia.org/wiki/Helminthiasis] worm infection EXACT [] DOID:8832 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:188562004] DOID:8836 Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck EXACT [MTHICD9_2006:200.21] DOID:8837 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck EXACT [MTHICD9_2006:201.51] DOID:8838 Hodgkin's lymphoma, nodular sclerosis NSHL EXACT [NCI2004_11_17:C3518] DOID:8839 herpes zoster keratoconjunctivitis An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. [url:http\://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false] Herpes zoster keratitis EXACT [SNOMEDCT_2005_07_31:42448002] DOID:884 metagonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm] Infection by Metagonimus yokogawai (disorder) EXACT [SNOMEDCT_2005_07_31:37832003] DOID:8844 tuberculous erythema nodosum Tuberculous erythema nodosum (disorder) EXACT [SNOMEDCT_2005_07_31:74610006] DOID:8847 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites nodular Sclerosis Hodgkin's Lymphoma stage III EXACT [NCI2004_11_17:C3581] DOID:8849 sublingual gland cancer A salivary gland cancer that is located_in the sublingual gland. [url:http\://en.wikipedia.org/wiki/Sublingual_gland] malignant tumor of the Sublingual gland EXACT [NCI2004_11_17:C3527] DOID:885 fascioliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm] Sheep liver fluke infection EXACT [SNOMEDCT_2005_07_31:187125007] DOID:8850 salivary gland cancer An oral cavity cancer that is located_in the salivary gland. [url:http\://www.cancer.gov/dictionary?CdrID=446528] malignant tumor of the Salivary gland EXACT [NCI2004_11_17:C3811] DOID:8852 Hodgkin's granuloma involving intra-abdominal lymph nodes Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188536008] DOID:8854 Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes Hodgkin's disease, lymphocytic depletion, involving intrathoracic lymph nodes RELATED [] DOID:8857 lupus erythematosus Lupus erythematosus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:200944003] DOID:8858 tonsil cancer malignant tumor of tonsil (disorder) EXACT [SNOMEDCT_2005_07_31:363393007] DOID:8860 lymphosarcoma involving spleen DOID:8861 pulmonary subvalvular stenosis Subvalvular pulmonic stenosis EXACT [MTHICD9_2006:746.83] DOID:8864 acute monocytic leukemia acute monocytic leukemia, morphology (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:22331004] DOID:8866 actinic keratosis Solar keratosis EXACT [SNOMEDCT_2005_07_31:156400006] DOID:8867 molluscum contagiosum A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. [url:http\://en.wikipedia.org/wiki/Molluscum_contagiosum, url:http\://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm] DOID:8868 Mycosis fungoides involving lymph nodes of multiple sites Mycosis fungoides of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:94713008] DOID:8869 neuromyelitis optica A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. [url:http\://en.wikipedia.org/wiki/Neuromyelitis_optica] Neuromyelitis optica (disorder) EXACT [SNOMEDCT_2005_07_31:25044007] DOID:887 Trematoda infectious disease A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. [url:http\://en.wikipedia.org/wiki/Trematoda] Trematode infestation EXACT [SNOMEDCT_2005_07_31:266219000] DOID:8870 nodular lymphoma involving intrathoracic lymph nodes nodular lymphoma of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95188007] DOID:8871 Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites RELATED [] DOID:8872 penis carcinoma in situ Queyrat's erythroplasia (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:18348002] DOID:8875 Hodgkin's sarcoma involving lymph nodes of multiple sites Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:93553002] DOID:8876 herpetic vulvovaginitis A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. [url:http\://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false] Herpetic vulvovaginitis (disorder) EXACT [SNOMEDCT_2005_07_31:27420004] DOID:888 fasciolopsiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm] Infectious Disease by Fasciolopsis EXACT [MTHICD9_2006:121.4] DOID:8881 rosacea Rosacea NOS (disorder) EXACT [SNOMEDCT_2005_07_31:200935004] DOID:8883 lower lip cancer DOID:8886 chorioretinitis retinochoroiditis EXACT [CSP2005:1114-9328] DOID:889 inborn metabolic brain disease DOID:8892 pityriasis rosea Pityriasis rosea (disorder) EXACT [SNOMEDCT_2005_07_31:77252004] DOID:8893 psoriasis DOID:890 mitochondrial encephalomyopathy DOID:8903 Hodgkin's granuloma involving lymph nodes of axilla and upper limb Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:93532006] DOID:8904 nodular lymphoma involving lymph nodes of inguinal region and lower limb nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:188613007] DOID:8906 herpes zoster otitis externa A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. [url:http\://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false] Otitis externa due to Herpes zoster (disorder) EXACT [SNOMEDCT_2005_07_31:36292003] DOID:8907 ulcerative proctitis ulcerative (chronic) proctitis EXACT [] DOID:891 progressive myoclonus epilepsy progressive Myoclonus epilepsy EXACT [NCI2004_11_17:C7636] DOID:8912 tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. [url:http\://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html] Tinea palmaris nigra EXACT [SNOMEDCT_2005_07_31:184346000] DOID:8913 dermatophytosis A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html] DOID:8914 Burkitt's tumor or lymphoma involving intrapelvic lymph nodes Burkitt's lymphoma of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188515006] DOID:8915 herpes zoster meningitis A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. [url:http\://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf] DOID:8916 mycosis fungoides involving lymph nodes of axilla and upper limb DOID:8918 Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93552007] DOID:8919 Mycosis fungoides involving lymph nodes of inguinal region and lower limb Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:94712003] DOID:8920 leukoplakia of vagina vaginal Leukoplakia EXACT [NCI2004_11_17:C3663] DOID:8921 noninflammatory vaginal disorder DOID:8923 skin melanoma A skin cancer that has_material_basis_in melanocytes. [url:http\://cancergenome.nih.gov/cancersselected/melanoma, url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.cancer.gov/dictionary?CdrID=45135] malignant upper limb melanoma EXACT [] DOID:8924 autoimmune thrombocytopenic purpura A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. [sn:IEDB] werlhof's disease RELATED [] DOID:8925 primary thrombocytopenia DOID:8927 learning disability A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. [url:http\://en.wikipedia.org/wiki/Learning_disability, url:http\://www.ldonline.org/ldbasics/whatisld] learning disorder EXACT [CSP2005:2483-6402] DOID:8928 lymphosarcoma involving lymph nodes of head, face, and neck DOID:8929 atrophic gastritis gastric atrophy EXACT [NCI2004_11_17:C7405] DOID:893 Wilson disease Wilson's disease * (disorder) EXACT [SNOMEDCT_2005_07_31:191710006] DOID:8930 retromolar area cancer malignant tumor of retromolar area (disorder) EXACT [SNOMEDCT_2005_07_31:363391009] DOID:8931 Evans' syndrome Evans syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:75331009] DOID:8932 herpes zoster iridocyclitis An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. [url:http\://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf, url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false] Herpes zoster iridocyclitis (disorder) EXACT [SNOMEDCT_2005_07_31:10698009] DOID:8936 plantar fascial fibromatosis Plantar fascial fibromatosis (disorder) EXACT [SNOMEDCT_2005_07_31:13370002] DOID:8937 Waldeyer's ring cancer Waldeyer ring cancer EXACT [] DOID:8938 reticulosarcoma involving intrathoracic lymph nodes Reticulosarcoma of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95226002] DOID:8939 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb RELATED [] DOID:894 nervous system heredodegenerative disease DOID:8941 seborrheic infantile dermatitis A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. [url:http\://en.wikipedia.org/wiki/Cradle_cap, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm] Seborrhoeic eczema of scalp EXACT [SNOMEDCT_2005_07_31:48596006] DOID:8943 lattice corneal dystrophy familial amyloid neuropathy, Finnish type EXACT [SNOMEDCT_2005_07_31:1192004] DOID:8946 severe nonproliferative diabetic retinopathy Severe NPDR EXACT [SNOMEDCT_2005_07_31:312905005] DOID:8947 diabetic retinopathy Retinal abnormality - diabetes-related EXACT [SNOMEDCT_2005_07_31:163997001] DOID:895 copper metabolism disease disorder of copper metabolism NOS (disorder) EXACT [SNOMEDCT_2005_07_31:190854000] DOID:8955 sideroblastic anemia An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia] Anemia, hypochromic with iron loading EXACT [MTHICD9_2006:285.0] DOID:8956 cowpox A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. [url:http\://emedicine.medscape.com/article/1131886-overview] yaba EXACT [CSP2005:3100-0734] DOID:8958 lymphosarcoma involving lymph nodes of axilla and upper limb DOID:8959 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb DOID:896 metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism] inborn metal metabolism disorder EXACT [CSP2005:4000-0215] DOID:8962 Measles virus keratoconjunctivitis A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. [url:http\://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false] DOID:8964 Hodgkin's sarcoma involving spleen Hodgkin's sarcoma of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:93554008] DOID:8969 tonsillar fossa cancer malignant tumor of tonsillar fossa (disorder) EXACT [SNOMEDCT_2005_07_31:363394001] DOID:8970 subacute sclerosing panencephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). [url:http\://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis] Van Bogaert's sclerosing leukoencephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:359686005] DOID:8973 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites mixed cellularity Hodgkin's disease stage III EXACT [NCI2004_11_17:C3582] DOID:8974 Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:188513004] DOID:8976 peripheral lymph node tuberculosis Tuberculosis of peripheral lymph nodes, unspecified examination EXACT [ICD9CM_2006:017.20] DOID:8977 malignant histiocytosis involving lymph nodes of head, face, and neck malignant histiocytosis of lymph nodes of head, face and/or neck (disorder) EXACT [SNOMEDCT_2005_07_31:93186009] DOID:8978 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb RELATED [] DOID:8979 Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes RELATED [] DOID:898 polycystic kidney disease An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. [url:en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4, url:kidney.niddk.nih.gov/kudiseases/pubs/polycystic] POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 EXACT [] DOID:8980 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:188561006] DOID:8986 narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. [url:http\://en.wikipedia.org/wiki/Narcolepsy] paroxysmal sleep EXACT [CSP2005:2056-7716] DOID:899 choledochal cyst Congenital choledochal cyst (disorder) EXACT [SNOMEDCT_2005_07_31:30533003] DOID:8990 Hodgkin's granuloma involving lymph nodes of multiple sites Hodgkin's granuloma of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:188541000] DOID:8991 cervix uteri carcinoma in situ squamous intraepithelial neoplasia, grade III EXACT [SNOMEDCT_2005_07_31:20365006] DOID:8992 Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93534007] DOID:8994 Hodgkin's sarcoma involving lymph nodes of head, face, and neck Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder) EXACT [SNOMEDCT_2005_07_31:93551000] DOID:8995 malignant histiocytosis involving intra-abdominal lymph nodes DOID:8997 polycythemia vera Proliferative polycythaemia EXACT [SNOMEDCT_2005_07_31:128841001] DOID:90 degenerative disc disease A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. [url:http\://en.wikipedia.org/wiki/Degenerative_disc_disease, url:http\://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx, url:http\://www.medicinenet.com/degenerative_disc/article.htm, url:http\://www.spine-health.com/conditions/degenerative-disc-disease/what-degenerative-disc-disease] vertebral disc disease EXACT [] DOID:900 hepatopulmonary syndrome Hepatopulmonary syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:371067004] DOID:9001 Hodgkin's lymphoma, nodular sclerosis, involving spleen Hodgkin's disease, nodular sclerosis, involving spleen RELATED [] DOID:9007 sudden infant death syndrome A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. [url:http\://en.wikipedia.org/wiki/Sudden_infant_death_syndrome, url:http\://omim.org/entry/272120, url:http\://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html] Sudden infant death syndrome NOS (context-dependent category) EXACT [SNOMEDCT_2005_07_31:207538008] DOID:9008 psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. [url:http\://en.wikipedia.org/wiki/Psoriatic_arthropathy, url:http\://psoriasis.org/netcommunity/psoriatic_arthritis, url:http\://www.mayoclinic.com/health/psoriatic-arthritis/DS00476, url:http\://www.medicinenet.com/psoriatic_arthritis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000413.htm] psoriatic arthropathy RELATED [] DOID:901 liver lymphoma Lymphoma of Liver EXACT [NCI2004_11_17:C4949] DOID:9010 Burkitt's tumor or lymphoma involving lymph nodes of multiple sites Burkitt's lymphoma of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:188517003] DOID:9011 larynx carcinoma in situ stage 0 carcinoma of the Larynx EXACT [NCI2004_11_17:C9100] DOID:9017 Sezary's disease involving lymph nodes of axilla and upper limb Szary's disease of lymph nodes of axilla and/or upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:95259004] DOID:9019 Mycosis fungoides involving spleen Mycosis fungoides of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:94714002] DOID:902 malignant non-epithelial hepatic and intrahepatic bile duct neoplasm DOID:9020 reticulosarcoma involving spleen Reticulosarcoma of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:95231000] DOID:9021 esophageal leukoplakia Leukoplakia of esophagus (disorder) EXACT [SNOMEDCT_2005_07_31:89057003] DOID:9024 intestine carcinoma in situ carcinoma in situ of other and unspecified parts of intestine (disorder) EXACT [SNOMEDCT_2005_07_31:190172008] DOID:9025 Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes RELATED [] DOID:903 gastrointestinal lymphoma DOID:9033 Hodgkin's sarcoma involving lymph nodes of axilla and upper limb Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:93550004] DOID:9036 parotid gland cancer A salivary gland cancer that is located_in the parotid gland. [url:http\://en.wikipedia.org/wiki/Parotid_gland] malignant tumor of parotid gland (disorder) EXACT [SNOMEDCT_2005_07_31:363379000] DOID:9037 Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:188514005] DOID:9039 Hodgkin's paragranuloma involving lymph nodes of head, face, and neck Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder) EXACT [SNOMEDCT_2005_07_31:188523008] DOID:9040 reticulosarcoma involving lymph nodes of head, face, and neck Reticulosarcoma of lymph nodes of head, face, and neck (disorder) EXACT [SNOMEDCT_2005_07_31:95228001] DOID:9041 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb RELATED [] DOID:9042 polyp of corpus uteri polyp, uterus EXACT [MTHICD9_2006:621.0] DOID:9043 uterine cervix leukoplakia Leukoplakia of the uterine Cervix EXACT [NCI2004_11_17:C3976] DOID:9046 nodular lymphoma involving lymph nodes of multiple sites nodular lymphoma of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:95192000] DOID:905 Zellweger syndrome A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. [url:http\://en.wikipedia.org/wiki/Zellweger_Syndrome, url:http\://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912] peroxisome biogenesis disorder EXACT [] DOID:9051 Herpes simplex virus meningitis A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://en.wikipedia.org/wiki/Mollaret%27s_meningitis, url:http\://www.springerlink.com/content/u62658410432568k/fulltext.pdf] Mollaret's meningitis EXACT [] DOID:9052 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb RELATED [] DOID:9053 bladder carcinoma in situ Flat CIS of the urinary bladder EXACT [NCI2004_11_17:C3644] DOID:9054 lymphosarcoma involving intrathoracic lymph nodes DOID:9059 Herpes simplex virus gingivostomatitis A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001052.htm] primary herpetic gingivostomatitis EXACT [SNOMEDCT_2005_07_31:57920007] DOID:906 peroxisomal disease An inherited metabolic disorder that involves peroxisome malfunction. [url:http\://en.wikipedia.org/wiki/Peroxisomal_disorder] peroxisomal disorder EXACT [ICD9CM_2006:277.86] DOID:9060 pityriasis versicolor A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/] Pityriasis versicolor (disorder) EXACT [SNOMEDCT_2005_07_31:56454009] DOID:9061 alcohol induced sleep disorder DOID:9063 Ritter's disease A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. [url:http\://en.wikipedia.org/wiki/Ritter%27s_disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin] Toxic epidermal necrolysis, subcorneal type (disorder) EXACT [SNOMEDCT_2005_07_31:367537006] DOID:9064 Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites RELATED [] DOID:9065 leishmaniasis A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). [url:http\://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm] Post-kala-azar dermal leishmaniasis (disorder) RELATED [SNOMEDCT_2005_07_31:67896006] DOID:9067 Hodgkin's paragranuloma involving intrathoracic lymph nodes Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93540000] DOID:907 liver fibroma Fibroma of the Liver EXACT [NCI2004_11_17:C5752] DOID:9070 pseudopolyposis of colon Pseudopolyposis of colon (disorder) EXACT [SNOMEDCT_2005_07_31:13025001] DOID:9071 malignant histiocytosis involving spleen malignant histiocytosis of spleen (disorder) EXACT [SNOMEDCT_2005_07_31:93189002] DOID:9072 lethal midline granuloma Midfacial Necrotising Lesion EXACT [NCI2004_11_17:C8196] DOID:9074 systemic lupus erythematosus A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Systemic_lupus_erythematosus] SLE - Lupus Erythematosus, systemic EXACT [NCI2004_11_17:C3201] DOID:9076 discoid lupus erythematosus of eyelid DOID:9078 Hodgkin's paragranuloma involving intrapelvic lymph nodes Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93539002] DOID:9079 Hodgkin's paragranuloma involving lymph nodes of multiple sites Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) EXACT [SNOMEDCT_2005_07_31:188531003] DOID:9080 macroglobulinemia primary macroglobulinemia EXACT [MTHICD9_2006:273.3] DOID:9082 mycosis fungoides involving intrathoracic lymph nodes Mycosis fungoides of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:94709001] DOID:9084 Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes RELATED [] DOID:9087 anal carcinoma in situ carcinoma in situ of anus NOS (disorder) EXACT [SNOMEDCT_2005_07_31:189233005] DOID:9088 parapsoriasis Parapsoriasis unspecified (disorder) EXACT [SNOMEDCT_2005_07_31:200980003] DOID:9091 REM sleep behavior disorder A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. [url:http\://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder] Rapid eye movement sleep behavior disorder EXACT [] DOID:9092 Hodgkin's sarcoma involving intrathoracic lymph nodes Hodgkin's sarcoma of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93549004] DOID:9093 Hodgkin's paragranuloma involving intra-abdominal lymph nodes Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:93538005] DOID:9095 esophagus carcinoma in situ stage 0 carcinoma of the esophagus EXACT [NCI2004_11_17:C3637] DOID:9097 erythematosquamous dermatosis Other erythematosquamous dermatosis EXACT [] DOID:9098 sebaceous gland disease A skin disease that is located_in the sebaceous gland. [url:http\://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance, url:http\://www.ncbi.nlm.nih.gov/pubmed/18837699] DOID:910 occipital lobe neoplasm tumor of Occipital Lobe EXACT [NCI2004_11_17:C5574] DOID:9103 carcinoma in situ of male genital organs carcinoma in situ of other and unspecified male genital organs (disorder) EXACT [SNOMEDCT_2005_07_31:189348002] DOID:9105 mycosis fungoides involving intrapelvic lymph nodes Mycosis fungoides of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:94708009] DOID:9108 uterus carcinoma in situ carcinoma in situ of other and unspecified parts of uterus (disorder) EXACT [SNOMEDCT_2005_07_31:269492005] DOID:9109 mycosis fungoides involving intra-abdominal lymph nodes Mycosis fungoides of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:94707004] DOID:9111 cutaneous leishmaniasis A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm] Leproid leishmaniasis EXACT [SNOMEDCT_2005_07_31:38573008] DOID:9113 granuloma inguinale A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. [url:http\://emedicine.medscape.com/article/1052617-overview, url:http\://en.wikipedia.org/wiki/Granuloma_inguinale] Pudendal ulcer EXACT [MTHICD9_2006:099.2] DOID:9114 Varicella-zoster virus pneumonia A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. [url:http\://erj.ersjournals.com/content/21/5/886.full] Varicella pneumonitis EXACT [MTHICD9_2006:052.1] DOID:9115 Rubella virus arthritis A Rubella virus infectious disease that results_in infection located_in joint, 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 joint pains. [url:http\://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false] rubella arthritis EXACT [] DOID:9117 Hodgkin's lymphoma, lymphocytic depletion, involving spleen Hodgkin's disease, lymphocytic depletion, involving spleen RELATED [] DOID:9119 acute myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. [url:http\://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia, url:http\://en.wikipedia.org/wiki/Acute_myeloid_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=44363] Leukemia, Myelocytic, acute EXACT [MTH:NOCODE] DOID:9120 amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. [url:http\://en.wikipedia.org/wiki/Amyloidosis] amyloid disease EXACT [CSP2005:1849-1519] DOID:9121 Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites Hodgkin's disease, mixed cellularity, extranodal and solid organ sites EXACT [] DOID:9123 eczema herpeticum A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. [url:http\://www.eczema.com/eczema-herpeticum/] herpes simplex virus eyelid dermatitis EXACT [] DOID:9124 Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes RELATED [] DOID:9125 lower gum cancer malignant tumour of lower gum EXACT [SNOMEDCT_2005_07_31:93873003] DOID:913 atrophic muscular disease DOID:9130 Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes RELATED [] DOID:9132 liver carcinoma in situ carcinoma in situ of liver, gallbladder and bile ducts EXACT [MTH:U001402] DOID:9138 stomach carcinoma in situ gastric carcinoma in situ EXACT [NCI2004_11_17:C7788] DOID:914 peliosis hepatis hepatic peliosis (disorder) EXACT [SNOMEDCT_2005_07_31:240625009] DOID:9140 xeroderma of eyelid DOID:9141 Herpes simplex virus meningoencephalitis A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf] Herpetic meningoencephalitis (disorder) EXACT [SNOMEDCT_2005_07_31:9678009] DOID:9142 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites stage III Hodgkin's Lymphoma Lymphocyte Depletion type EXACT [NCI2004_11_17:C3583] DOID:9143 Burkitt's tumor or lymphoma involving spleen Splenic Burkitt's Lymphoma EXACT [NCI2004_11_17:C7309] DOID:9146 visceral leishmaniasis A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. [url:http\://en.wikipedia.org/wiki/Visceral_leishmaniasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm] Kala-Azar EXACT [NCI2004_11_17:C34771] DOID:9149 hard palate cancer malignant tumour of hard palate EXACT [SNOMEDCT_2005_07_31:93822006] DOID:9150 Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes RELATED [] DOID:9153 variola minor A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. [url:http\://emedicine.medscape.com/article/830328-overview] whitepox EXACT [] DOID:9155 mucocutaneous leishmaniasis A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. [url:http\://www.bmj.com/cgi/content/full/329/7470/842] New World cutaneous leishmaniasis EXACT [SNOMEDCT_2005_07_31:266122008] DOID:9157 Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes RELATED [] DOID:9158 Sezary's disease involving intra-abdominal lymph nodes Szary's disease of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95256006] DOID:9159 gas gangrene A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. [url:http\://en.wikipedia.org/wiki/Gas_gangrene, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157] Myonecrosis EXACT [] DOID:916 liver neoplasm epithelial hepatic and intrahepatic bile duct neoplasm EXACT [] DOID:9161 Sezary's disease involving intrapelvic lymph nodes Szary's disease of intrapelvic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95257002] DOID:9164 achalasia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000267.htm] Lack of reflex relaxation of lower oesophageal sphincter EXACT [SNOMEDCT_2005_07_31:17460002] DOID:9165 neurotic excoriation Factitious skin disease (disorder) EXACT [SNOMEDCT_2005_07_31:402736003] DOID:9169 Wiskott-Aldrich syndrome Wiskott syndrome EXACT [CSP2005:1849-0285] DOID:917 liver leiomyoma leiomyoma of the Liver EXACT [NCI2004_11_17:C5753] DOID:9173 submandibular gland cancer malignant tumor of the Submandibular gland EXACT [NCI2004_11_17:C3526] DOID:9174 rectum carcinoma in situ Severe Rectal Dysplasia EXACT [NCI2004_11_17:C4853] DOID:918 liver inflammatory pseudotumor Inflammatory Pseudotumor of the Liver EXACT [NCI2004_11_17:C5858] DOID:9180 amebic colitis An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh] amoebic colitis EXACT [] DOID:9181 amebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. [url:http\://en.wikipedia.org/wiki/Amoebiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000298.htm] entamoebiasis EXACT [] DOID:9182 pemphigus DOID:9184 sleep arousal disorder DOID:9186 Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93543003] DOID:9188 vestibule of mouth cancer malignant tumor of vestibule of mouth (disorder) EXACT [SNOMEDCT_2005_07_31:187658004] DOID:9189 generalized hyperhidrosis Generalized hyperhidrosis (disorder) EXACT [SNOMEDCT_2005_07_31:274673004] DOID:9191 diabetic macular edema DOID:9192 dyskinesia of esophagus Oesophageal motor disorder EXACT [SNOMEDCT_2005_07_31:40846004] DOID:9195 Herpes simplex virus keratitis A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. [url:http\://emedicine.medscape.com/article/1194268-overview] ocular herpes simplex EXACT [] DOID:9198 Sezary's disease involving intrathoracic lymph nodes Szary's disease of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95258007] DOID:9199 cataplexy and narcolepsy DOID:92 speech disorder A communication disorder that involves difficulty with the act of speech production. [url:http\://en.wikipedia.org/wiki/Speech_disorders] DOID:920 childhood liver neoplasm DOID:9201 lichen planus A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. [url:http\://en.wikipedia.org/wiki/Lichen_planus] Lichen, ruber planus EXACT [MTHICD9_2006:697.0] DOID:9202 disorder of optic chiasm associated with pituitary neoplasm and disorder DOID:9203 Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188512009] DOID:9206 Barrett's esophagus CLE EXACT [NCI2004_11_17:C2891] DOID:9207 periodic limb movement disorder A sleep disorder that involves involuntary limb movement during sleep. [url:http\://en.wikipedia.org/wiki/Periodic_limb_movement_disorder] nocturnal myoclonus EXACT [] DOID:9210 geniculate herpes zoster A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. [url:http\://emedicine.medscape.com/article/1166804-overview, url:http\://www.ramsayhunt.org/what.shtml] Ramsay Hunt syndrome type II EXACT [] DOID:9212 pityriasis rubra pilaris Pityriasis rubra pilaris (disorder) EXACT [SNOMEDCT_2005_07_31:3755001] DOID:9214 Herpes simplex virus iridocyclitis A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. [url:http\://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg, url:http\://en.wikipedia.org/wiki/Iridocyclitis] Herpes simplex iridocyclitis (disorder) EXACT [SNOMEDCT_2005_07_31:13608004] DOID:9216 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck RELATED [] DOID:9217 herpes zoster eyelid dermatitis A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. [url:http\://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain] Herpes zoster with dermatitis of eyelid (disorder) EXACT [SNOMEDCT_2005_07_31:186525007] DOID:9220 central sleep apnea A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. [url:http\://en.wikipedia.org/wiki/Central_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] primary central sleep apnea EXACT [] DOID:9222 lymphosarcoma involving lymph nodes of inguinal region and lower limb DOID:9224 vulva herpetic infectious disease A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions. [url:http\://www.merck.com/mmhe/sec17/ch198/ch198e.html] Herpetic ulceration of vulva (disorder) EXACT [SNOMEDCT_2005_07_31:59819007] DOID:9225 Hodgkin's sarcoma involving intrapelvic lymph nodes DOID:9227 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck RELATED [] DOID:9228 congenital rubella A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. [url:http\://en.wikipedia.org/wiki/Congenital_rubella] Gestational rubella syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:1857005] DOID:9230 dyshidrosis Vesicular eczema of hands and/or feet (disorder) EXACT [SNOMEDCT_2005_07_31:402567004] DOID:9234 kidney carcinoma in situ carcinoma in situ of other and unspecified urinary organs (disorder) EXACT [SNOMEDCT_2005_07_31:190185006] DOID:9235 pyriform sinus cancer malignant tumor of pyriform fossa (disorder) EXACT [SNOMEDCT_2005_07_31:363401000] DOID:9240 erythromelalgia Erythromelalgia (disorder) EXACT [SNOMEDCT_2005_07_31:37151006] DOID:9241 reticulosarcoma involving lymph nodes of axilla and upper limb Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:95227006] DOID:9245 Alagille syndrome A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. [url:http\://digestive.niddk.nih.gov/DDISEASES/pubs/alagille/] Arteriohepatic dysplasia (disorder) EXACT [SNOMEDCT_2005_07_31:31742004] DOID:9246 cerebral amyloid angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. [OMIM:605714, url:http\://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy] Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder) EXACT [SNOMEDCT_2005_07_31:56453003] DOID:9248 Pallister-Hall syndrome Pallister-Hall syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:56677004] DOID:9249 Beemer-Langer syndrome A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. [url:http\://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome, url:http\://www.springerlink.com/content/e0hmfh4fcl7m4kjw/] type IV short rib polydactyly syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:254052001] DOID:9250 acrocallosal syndrome A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. [url:http\://en.wikipedia.org/wiki/Acrocallosal_syndrome] Schinzel syndrome 1 EXACT [MTH:NOCODE] DOID:9252 amino acid metabolic disorder An inherited metabolic disorders which impair the synthesis and degradation of amino acids. [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism] inborn errors of amino acid metabolism EXACT [] DOID:9253 gastrointestinal stromal tumor Stromal tumor of gastrointestinal tract EXACT [NCI2004_11_17:C3868] DOID:9254 mast-cell leukemia A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. [url:http\://medical-dictionary.thefreedictionary.com/mast+cell+leukemia] DOID:9255 frontotemporal dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. [url:http\://en.wikipedia.org/wiki/Frontotemporal_dementia, url:http\://www.ncbi.nlm.nih.gov/pubmed/21121521, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract] Wilhemsen-Lynch disease EXACT [] DOID:9256 colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. [url:http\://www.cancer.gov/dictionary?CdrID=444983] DOID:9258 Waardenburg's syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. [url:http\://en.wikipedia.org/wiki/Waardenburg_syndrome, url:http\://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract] Waardenburg-Klein syndrome EXACT [] DOID:9261 nasopharynx carcinoma A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or \throat\", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." [url:http\://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma] primary malignant neoplasm of anterior wall of nasopharynx EXACT [SNOMEDCT_2005_07_31:93674007] DOID:9263 homocystinuria An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. [url:http\://en.wikipedia.org/wiki/Homocystinuria] Homocystinuria (disorder) EXACT [SNOMEDCT_2005_07_31:11282001] DOID:9264 sulfuraminoacidemia Sulphuraminoacidaemia EXACT [SNOMEDCT_2005_07_31:28882002] DOID:9265 histidine metabolism disease An amino acid metabolic disorder that involves deficiency in histidine. [url:http\://en.wikipedia.org/wiki/Histidine#Metabolism] Disturbances of histidine metabolism EXACT [ICD9CM_2006:270.5] DOID:9266 cystinuria An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. [url:http\://en.wikipedia.org/wiki/Cystinuria] DOID:9267 urea cycle disorder An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. [url:http\://en.wikipedia.org/wiki/Urea_cycle_disorder] urea cycle defect EXACT [] DOID:9268 glycine encephalopathy An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. [url:http\://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia] nonketotic hyperglycinemia EXACT [CSP2005:1849-0664] DOID:9269 maple syrup urine disease An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease] Ketoacidaemia EXACT [SNOMEDCT_2005_07_31:27718001] DOID:927 metastatic malignant neoplasm to brain secondary malignant neoplasm of brain (disorder) EXACT [SNOMEDCT_2005_07_31:94225005] DOID:9270 alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. [url:http\://en.wikipedia.org/wiki/Alkaptonuria] Homogentisate 1,2-dioxygenase deficiency EXACT [SNOMEDCT_2005_07_31:267418001] DOID:9271 ornithine carbamoyltransferase deficiency An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. [url:http\://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency] ornithine transcarbamylase deficiency EXACT [CSP2005:1849-9662] DOID:9273 citrullinemia An urea cycle disorder that involves the accumulation of ammonia in the blood. [url:http\://en.wikipedia.org/wiki/Citrullinemia] deficiency of citrulline-aspartate ligase EXACT [SNOMEDCT_2005_07_31:124711003] DOID:9274 hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. [url:http\://en.wikipedia.org/wiki/Hyperlysinemia] DOID:9275 tyrosinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. [url:http\://en.wikipedia.org/wiki/Tyrosinemia] DOID:9277 primary cerebellar degeneration DOID:9278 hyperargininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. [url:http\://www.medlink.com/medlinkcontent.asp] deficiency of canavanase EXACT [SNOMEDCT_2005_07_31:124518006] DOID:9279 hyperhomocysteinemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. [url:http\://en.wikipedia.org/wiki/Hyperhomocysteinemia] DOID:928 CNS metastases metastatic tumor to the CNS EXACT [NCI2004_11_17:C4015] DOID:9280 carbamoyl phosphate synthetase I deficiency disease An amino acid metabolic disorder that involves accumulation of ammonia in the blood. [url:http\://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency] CPS I deficiency EXACT [] DOID:9281 phenylketonuria An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. [url:http\://en.wikipedia.org/wiki/Phenylketonuria] PKU EXACT [MTHICD9_2006:270.1] DOID:9282 ocular hypertension DOID:9283 borderline glaucoma Preglaucoma EXACT [SNOMEDCT_2005_07_31:359633007] DOID:9286 priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. [url:http\://en.wikipedia.org/wiki/Priapism, url:http\://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx] Priapism (disorder) EXACT [SNOMEDCT_2005_07_31:6273006] DOID:9287 penile vascular disorder vascular disorder of penis EXACT [ICD9CM_2006:607.82] DOID:929 myopathy of extraocular muscle Myopathy of extraocular muscles (disorder) EXACT [SNOMEDCT_2005_07_31:57130002] DOID:9296 cleft lip Labium leporinum EXACT [MTHICD9_2006:749.1] DOID:9297 lip disease Lip disorder EXACT [NCI2004_11_17:C26818] DOID:9299 myocardium cancer tumor of Myocardium EXACT [NCI2004_11_17:C5349] DOID:93 language disorder A communication disorder that involves the processing of linguistic information. [url:http\://en.wikipedia.org/wiki/Language_disorder] DOID:930 orbital disease An adnexa disease that is located_in the eye socket. [url:http\://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html] DOID:9300 neurofibroma of the heart Neurofibroma of Heart EXACT [NCI2004_11_17:C5359] DOID:9305 splenic tuberculosis An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] DOID:9306 mechanical strabismus DOID:9307 rectal prolapse Procidentia, rectum EXACT [MTHICD9_2006:569.1] DOID:931 monieziasis A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15287174, url:http\://www.online-medical-dictionary.org/Monieziasis.asp?q=Monieziasis] DOID:9310 nasal cavity neoplasm tumor of the nasal cavity EXACT [NCI2004_11_17:C4413] DOID:9312 chronic ethmoiditis A ethmoid sinusitis which lasts for 12 weeks or more. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] ethmoidal sinusitis - chronic EXACT [SNOMEDCT_2005_07_31:266384001] DOID:9314 glaucoma associated with anomalies of iris Glaucoma associated with anomalies of iris (disorder) EXACT [SNOMEDCT_2005_07_31:26467009] DOID:9317 lymphangitis A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. [url:http\://en.wikipedia.org/wiki/Lymphangitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis] Lymphangitis NOS EXACT [SNOMEDCT_2005_07_31:266335009] DOID:9321 intervertebral disc disorder displacement of thoracic or lumbar intervertebral disc without myelopathy EXACT [] DOID:933 Cestoda infectious disease A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. [url:http\://en.wikipedia.org/wiki/Cestodes] Unspecified teniasis (disorder) EXACT [SNOMEDCT_2005_07_31:187150005] DOID:9335 scotoma Sector or arcuate visual field defects EXACT [] DOID:9336 bestiality Zoophilia EXACT [ICD9CM_2006:302.1] DOID:9339 urethral false passage DOID:934 viral infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Viruses. [url:http\://www.merck.com/mmhe/sec17/ch198/ch198a.html] virus infection EXACT [CSP2005:3099-7852] DOID:9340 cheilopalatoschisis Unilateral incomplete cleft palate with cleft lip (disorder) EXACT [SNOMEDCT_2005_07_31:204613000] DOID:9341 urethral diverticulum DOID:9346 Taylor's syndrome Taylor syndrome EXACT [] DOID:9348 carotid artery dissection Dissection of carotid artery EXACT [ICD9CM_2006:443.21] DOID:9351 diabetes mellitus A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. [PMID:9686693, url:http\://www.who.int/diabetes/action_online/basics/en/, url:https\://en.wikipedia.org/wiki/Diabetes_mellitus] DOID:9352 type 2 diabetes mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_2] type II diabetes mellitus EXACT [] DOID:9353 congenital hip dislocation Developmental dysplasia of the hip EXACT [SNOMEDCT_2005_07_31:52781008] DOID:9357 hyperemesis gravidarum DOID:9358 fibular collateral ligament bursitis Fibular collateral ligament bursitis (disorder) EXACT [SNOMEDCT_2005_07_31:77323000] DOID:9359 enthesopathy of knee DOID:936 brain disease encephalopathy EXACT [] DOID:9360 intrinsic asthma An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. [url:http\://www.aafa.org/display.cfm?id=8&sub=17, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf] DOID:9362 status asthmaticus An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. [url:http\://www.ncbi.nlm.nih.gov/pubmed/11399724] Severe asthma attack EXACT [SNOMEDCT_2005_07_31:195980003] DOID:9365 vesiculitis Seminal vesiculitis EXACT [ICD9CM_2006:608.0] DOID:9368 keratoconjunctivitis DOID:9369 orbital plasma cell granuloma Pseudotumor of orbit EXACT [MTHICD9_2006:376.11] DOID:937 DNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. [url:http\://en.wikipedia.org/wiki/DNA_viruses] DOID:9370 exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. [url:http\://en.wikipedia.org/wiki/Exophthalmos] proptosis EXACT [CSP2005:1114-8967] DOID:9373 postural kyphosis A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html, url:http\://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes] DOID:9375 Fuchs' heterochromic uveitis A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. [url:http\://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis, url:www.uveitissociety.org/pages/diseases/fhu.pdf] Fuchs' heterochromic cyclitis EXACT [ICD9CM_2006:364.21] DOID:9377 pigment dispersion syndrome of iris Pigmentary iris degeneration (disorder) EXACT [SNOMEDCT_2005_07_31:70397008] DOID:9378 glaucomatocyclitic crisis Terrien-Viel syndrome EXACT [] DOID:9379 glaucoma with ocular inflammation Glaucoma associated with ocular inflammations (disorder) EXACT [SNOMEDCT_2005_07_31:37155002] DOID:9383 iridocyclitis primary iridocyclitis EXACT [] DOID:9384 gonococcal iridocyclitis DOID:9385 gonococcal eye infectious disease DOID:9388 lens-induced iridocyclitis Lens-induced iridocyclitis EXACT [SNOMEDCT_2005_07_31:70461003] DOID:9389 infectious anterior uveitis secondary iridocyclitis, infectious EXACT [ICD9CM_2006:364.03] DOID:9392 tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. [url:http\://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh] chronic tracheitis EXACT [] DOID:9395 croup A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. [url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000959.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup] Laryngotracheobronchitis EXACT [] DOID:9396 acute laryngitis A laryngitis which lasts less than a few days. [url:http\://en.wikipedia.org/wiki/Laryngitis] DOID:9398 epiglottitis An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. [url:http\://en.wikipedia.org/wiki/Epiglottitis] acute epiglottitis and supraglottitis EXACT [SNOMEDCT_2005_07_31:155509002] DOID:9401 epididymo-orchitis DOID:9402 epididymitis DOID:9403 isolated explosive disorder DOID:9405 pituitary dwarfism Lorain - Levi dwarfism EXACT [SNOMEDCT_2005_07_31:302867007] DOID:9406 hypopituitarism A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. [url:http\://en.wikipedia.org/wiki/Hypopituitarism] Pituitary insufficiency NOS EXACT [MTHICD9_2006:253.2] DOID:9407 strictly posterior acute myocardial infarction DOID:9408 acute myocardial infarction DOID:9409 diabetes insipidus DOID:9410 panhypopituitarism Simmonds' disease EXACT [CSP2005:2335-9587] DOID:9411 gonococcal endocarditis Gonococcal endocarditis (disorder) EXACT [SNOMEDCT_2005_07_31:61048000] DOID:9413 Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium DOID:9414 abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium DOID:9415 allergic asthma An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. [url:http\://www.aafa.org/display.cfm?id=8&sub=16] extrinsic asthma with status asthmaticus EXACT [] DOID:9422 abscess of eyelid abscess of eyelid (disorder) EXACT [SNOMEDCT_2005_07_31:76126009] DOID:9423 blepharitis An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. [url:http\://en.wikipedia.org/wiki/Blepharitis] DOID:9426 tuberculous bronchiectasis A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes. [url:http\://chestjournal.chestpubs.org/content/22/1/46.full.pdf] DOID:9427 hypertensive encephalopathy DOID:9428 intracranial hypertension Raised intracranial pressure EXACT [SNOMEDCT_2005_07_31:271719001] DOID:9432 renal glycosuria renal diabetes EXACT [MTHICD9_2006:271.4] DOID:9439 chronic cholangitis DOID:9442 cervical mullerian papilloma DOID:9443 cervix blue nevus DOID:9445 cervix squamous papilloma squamous papilloma of the Cervix Uteri EXACT [NCI2004_11_17:C6342] DOID:9446 cholangitis A bile duct disease that is an inflammation of the bile duct. [url:http\://en.wikipedia.org/wiki/Cholangitis] DOID:9450 infectious disease of the breast and nipple associated with childbirth DOID:9452 fatty liver disease A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. [url:http\://en.wikipedia.org/wiki/Fatty_liver] Steatosis of liver (disorder) EXACT [SNOMEDCT_2005_07_31:197321007] DOID:9455 lipid storage disease A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. [url:http\://en.wikipedia.org/wiki/Lipidoses] lipoidosis EXACT [] DOID:9459 isthmus cancer DOID:946 dientamoebiasis A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. [url:http\://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm] intestinal trichomoniasis EXACT [] DOID:9460 uterine corpus cancer A uterine cancer that is located_in the uterine corpus. [url:http\://en.wikipedia.org/wiki/Uterine_cancer, url:http\://en.wikipedia.org/wiki/Uterus] corpus uteri cancer EXACT [] DOID:9461 exposure keratitis lagophthalmic keratitis EXACT [SNOMEDCT_2005_07_31:14366000] DOID:9462 cholesteatoma of external ear A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10993445, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/15763298] external canal cholesteatoma EXACT [] DOID:9463 otitis externa An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection. [url:http\://en.wikipedia.org/wiki/Otitis_externa] swimmer's ear EXACT [] DOID:9467 nail-patella syndrome Turner-Kiser syndrome EXACT [] DOID:9468 Salmonella meningitis DOID:9470 bacterial meningitis DOID:9471 meningitis Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. [url:http\://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162] DOID:9473 mononeuritis of lower limb DOID:9476 Sheehan syndrome Sheehan's syndrome EXACT [SNOMEDCT_2005_07_31:154703006] DOID:9477 pulmonary embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. [url:http\://en.wikipedia.org/wiki/Pulmonary_embolism, url:http\://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html] pulmonary embolus EXACT [] DOID:9478 postpartum depression An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. [url:http\://en.wikipedia.org/wiki/Mood_disorder] postnatal depression EXACT [CSP2005:5003-0032] DOID:9483 ulcerative blepharitis DOID:9487 Meckel's diverticulum Persistent vitelline duct EXACT [MTHICD9_2006:751.0] DOID:949 chronic dacryoadenitis DOID:9496 unilateral hypoactive labyrinth DOID:9498 pulmonary eosinophilia DOID:9499 disseminated eosinophilic collagen disease DOID:950 dacryoadenitis DOID:9500 leukocyte disease DOID:9502 chronic eosinophilic pneumonia An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. [url:http\://www.merck.com/mmhe/print/sec04/ch051/ch051c.html, url:http\://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849] Cryptogenic pulmonary eosinophilia EXACT [SNOMEDCT_2005_07_31:233692000] DOID:9503 Loeffler syndrome An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome] Loffler's syndrome EXACT [MTHICD9_2006:518.3] DOID:9504 benign mammary dysplasia DOID:9505 cannabis abuse A substance abuse that involves the recurring use of cannabis despite negative consequences. [url:http\://en.wikipedia.org/wiki/Cannabis_%28drug%29] marijuana abuse EXACT [CSP2005:0962-7919] DOID:9506 acute ethmoiditis A ethmoid sinusitis which lasts for less than 4 weeks. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] ethmoidal sinus - acute EXACT [SNOMEDCT_2005_07_31:266378004] DOID:9507 ethmoid sinusitis A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] ethmoiditis EXACT [] DOID:951 toxic myopathy Toxic muscle disease EXACT [SNOMEDCT_2005_07_31:155097003] DOID:9512 simple chronic conjunctivitis DOID:9513 plasmacytic leukemia DOID:9514 multiple myeloma and immunoproliferative neoplasm DOID:9518 abortion complicated by renal failure DOID:952 acute dacryoadenitis DOID:9521 Laron syndrome Laron-type isolated somatotropin defect (disorder) EXACT [SNOMEDCT_2005_07_31:38196001] DOID:9528 acute renal failure with lesion of renal medullary necrosis DOID:9530 Rhesus isoimmunisation affecting management of mother DOID:9531 latent syphilis A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. [url:http\://en.wikipedia.org/wiki/Syphilis#Latent_syphilis] DOID:9534 tuberculous pneumothorax A pneumothorax in which air enters into the pleural cavity. [url:http\://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false] DOID:9535 Arenavirus hemorrhagic fever A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. [url:http\://en.wikipedia.org/wiki/Hemorrhagic_fever, url:http\://jama.ama-assn.org/cgi/reprint/287/18/2391] arenaviral hemorrhagic fever EXACT [] DOID:9537 Lassa fever A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm] DOID:9538 multiple myeloma A myeloma that is located_in the plasma cells in bone marrow. [url:http\://en.wikipedia.org/wiki/Multiple_myeloma, url:http\://www.cancer.gov/dictionary?CdrID=411384] plasma cell myeloma EXACT [] DOID:9540 vascular skin disease DOID:9541 osteosclerotic myeloma DOID:9543 plasma cell myeloma PTLD DOID:9544 refractory plasma cell neoplasm DOID:9545 recurrent plasma cell neoplasm DOID:9547 non-secretory myeloma DOID:955 benign neurilemmoma DOID:9550 indolent myeloma DOID:9551 smoldering myeloma A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. [url:http\://www.cancer.gov/dictionary/?CdrID=413932] DOID:9552 adrenal gland hypofunction DOID:9553 adrenal gland disease An endocrine system disease that is located_in the adrenal gland. [url:http\://en.wikipedia.org/wiki/Adrenal_gland_disease] DOID:956 peripheral nerve schwannoma DOID:9561 nasopharyngeal disease DOID:9562 primary ciliary dyskinesia A ciliopathy that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. [url:http\://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia] immotile ciliary syndrome EXACT [] DOID:9563 bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. [url:http\://www.merck.com/mmhe/sec04/ch047/ch047a.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis] Polynesian bronchiectasis EXACT [] DOID:9565 dextrocardia Heart predominantly in right hemithorax EXACT [SNOMEDCT_2005_07_31:156925007] DOID:9574 choanal atresia posterior choanal atresia EXACT [] DOID:9577 neonatal candidiasis A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. [url:http\://emedicine.medscape.com/article/1090632-overview, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] neonatal moniliasis EXACT [] DOID:9579 Pseudomonas septicemia DOID:9584 Venezuelan equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] Venezuelan equine fever RELATED [ICD9CM_2006:066.2] DOID:9585 equine encephalitis An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. [url:http\://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html] DOID:9588 encephalitis Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. [url:http\://en.wikipedia.org/wiki/Encephalitis, url:http\://www.nlm.nih.gov/medlineplus/encephalitis.html] DOID:9589 urethral calculus urethral Stone EXACT [NCI2004_11_17:C26995] DOID:959 esophagus squamous cell papilloma DOID:9590 lower urinary tract calculus A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. [url:http\://en.wikipedia.org/wiki/Calculus_%28medicine%29] DOID:9594 ovarian metastasis metastasis to ovary EXACT [SNOMEDCT_2005_07_31:154573007] DOID:9597 Krukenberg carcinoma Krukenberg tumor RELATED [] DOID:9598 fasciitis DOID:9599 proliferative fasciitis DOID:96 staphyloenterotoxemia A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. [url:http\://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070015.htm, url:http\://www.in.gov/isdh/22420.htm] staphyloenterotoxicosis EXACT [] DOID:960 esophagus leiomyoma DOID:9600 plantar fasciitis DOID:9601 ischemic fasciitis Atypical Decubital Fibroplasia EXACT [NCI2004_11_17:C6483] DOID:9602 necrotizing fasciitis DOID:9603 intravascular fasciitis Intravascular Pseudosarcomatous Fasciitis EXACT [NCI2004_11_17:C4729] DOID:961 neurofibroma of the esophagus DOID:9617 orthostatic proteinuria Postural albuminuria EXACT [SNOMEDCT_2005_07_31:77872002] DOID:962 neurofibroma DOID:9620 vesicoureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. [url:http\://en.wikipedia.org/wiki/Vesicoureteral_reflux, url:http\://ghr.nlm.nih.gov/glossary=vesicoureteralreflux, url:http\://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956] vesico-ureteral reflux EXACT [] DOID:9621 non-congenital cyst of kidney DOID:9622 kidney hypertrophy DOID:963 episodic ataxia A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. [url:http\://en.wikipedia.org/wiki/Episodic_ataxia, url:http\://ghr.nlm.nih.gov/condition/episodic-ataxia] Isaacs syndrome EXACT [] DOID:9630 genetic anomaly of leucocyte DOID:9631 Pelger-Huet anomaly DOID:9637 stomatitis DOID:9640 sarcocystosis A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf, url:http\://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm] Sarcosporidiosis EXACT [ICD9CM_2006:136.5] DOID:9642 rheumatic chorea Sydenham's chorea EXACT [] DOID:9643 babesiosis A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. [url:http\://en.wikipedia.org/wiki/Babesiosis] piroplasmosis EXACT [CSP2005:2214-4957] DOID:9647 obstructed labor DOID:9649 congenital nystagmus A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. [url:http\://en.wikipedia.org/wiki/Nystagmus, url:http\://ghr.nlm.nih.gov/glossary=nystagmus, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669] DOID:9650 pathologic nystagmus DOID:9651 systolic heart failure DOID:9653 Pre-eclampsia or eclampsia superimposed on pre-existing hypertension DOID:9654 hypertension complicating pregnancy, childbirth and the puerperium DOID:9655 oral mucosa leukoplakia DOID:9663 aphthous stomatitis A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. [url:http\://en.wikipedia.org/wiki/Aphthous_stomatitis] oral ulcer EXACT [] DOID:9667 placental abruption A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. [url:http\://en.wikipedia.org/wiki/Abruptio_placentae] abruptio placentae EXACT [CSP2005:2403-9411] DOID:9669 senile cataract DOID:9672 noma Gangrenous stomatitis EXACT [MTHICD9_2006:528.1] DOID:9673 ulcerative stomatitis DOID:9675 pulmonary emphysema DOID:9678 cervical incompetence complicating pregnancy, childbirth, or the puerperium DOID:9681 cervical incompetence A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. [url:http\://en.wikipedia.org/wiki/Cervical_incompetence] DOID:9682 yellow fever A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. [url:http\://en.wikipedia.org/wiki/Yellow_fever, url:http\://www.cdc.gov/ncidod/dvbid/yellowfever/YF_FactSheet.html, url:http\://www.who.int/mediacentre/factsheets/fs100/en/index.html] Yellow fever, sylvan EXACT [MTHICD9_2006:060.0] DOID:9694 toxic myocarditis DOID:9697 gonococcal keratitis DOID:9698 gonococcal endophthalmia DOID:9699 ophthalmia neonatorum Neonatal conjunctivitis EXACT [SNOMEDCT_2005_07_31:157120005] DOID:970 tenosynovitis Inflammation of tendon sheath EXACT [SNOMEDCT_2005_07_31:240035004] DOID:9700 bacterial conjunctivitis Purulent conjunctivitis EXACT [SNOMEDCT_2005_07_31:243321006] DOID:9709 rosacea conjunctivitis DOID:971 tendinitis DOID:9714 occlusion of gallbladder Obstruction of gallbladder EXACT [ICD9CM_2006:575.2] DOID:9717 hydrops of gallbladder DOID:9718 meningococcal myocarditis DOID:9719 proliferative vitreoretinopathy Retinitis proliferans EXACT [SNOMEDCT_2005_07_31:193364004] DOID:972 malignant neoplasm of cerebrum except lobes and ventricles DOID:9720 vitreous disease An eye and adnexa disease that is located in the vitreous of the eye. [url:http\://www.sw.org/eye-institute/retinal-vitreous-diseases] DOID:9722 ophthalmia nodosa DOID:9723 vitreous abscess DOID:9724 purulent endophthalmitis DOID:9726 vitreous detachment DOID:9728 vitreous membranes and strands DOID:9729 crystalline deposits in vitreous DOID:9733 renal tuberculosis An urogenital tuberculosis that results_in formation of granulomas located_in kidney. [url:http\://emedicine.medscape.com/article/450651-overview] Tuberculosis of kidney EXACT [ICD9CM_2006:016.0] DOID:9734 urinary tuberculosis DOID:9735 acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306] DOID:9736 blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. [url:http\://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false, url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] acute mucoid otitis media EXACT [ICD9CM_2006:381.02] DOID:9739 eustachian tube disease A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false] DOID:974 upper respiratory tract disease A respiratory system disease which involves the upper respiratory tract. [url:http\://en.wikipedia.org/wiki/Category\:Upper_respiratory_tract_diseases, url:http\://www.who.int/topics/respiratory_tract_diseases/en/] DOID:9740 postcholecystectomy syndrome DOID:9741 biliary tract disease DOID:9742 pelvic varices DOID:9743 diabetic neuropathy DOID:9744 type 1 diabetes mellitus A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_1] type I diabetes mellitus EXACT [] DOID:9745 perianal hematoma Thrombosed external hemorrhoids EXACT [SNOMEDCT_2005_07_31:26373009] DOID:9746 hemorrhoid A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. [PMID:19725283, url:http\://en.wikipedia.org/wiki/Hemorrhoid, url:http\://www.nlm.nih.gov/medlineplus/hemorrhoids.html] hemorrhoidal disease EXACT [] DOID:9749 internal hemorrhoid DOID:9751 popliteal cyst Baker's Cyst EXACT [NCI2004_11_17:C34935] DOID:9753 rupture of synovium DOID:9754 ganglion or cyst of synovium/tendon/bursa DOID:9761 arthropathy associated with dermatological disorder DOID:9762 perinatal cyanotic attack Cyanotic attacks of newborn EXACT [ICD9CM_2006:770.83] DOID:9764 biliary calculus with cholecystitis cholecystitis with Cholelithiasis EXACT [NCI2004_11_17:C35332] DOID:9765 emphysematous cholecystitis Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous] Gaseous pericholecystitis EXACT [SNOMEDCT_2005_07_31:95558008] DOID:9766 xanthogranulomatous cholecystitis DOID:9767 myocardial stunning DOID:9768 heart aneurysm cardiac aneurysm EXACT [CSP2005:1393-3252] DOID:9770 Retracted nipple associated with childbirth DOID:9771 transient neonatal thrombocytopenia DOID:9772 hematological disease of fetus and newborn DOID:9773 female breast upper-outer quadrant cancer DOID:9775 diastolic heart failure DOID:9776 Senile atrophy of choroid DOID:9778 irritable bowel syndrome A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/ibs/, url:http\://en.wikipedia.org/wiki/Irritable_bowel_syndrome] Psychogenic IBS RELATED [SNOMEDCT_2005_07_31:10743008] DOID:9779 bowel dysfunction DOID:9784 trichinosis A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm] Trichinella spiralis infection EXACT [MTHICD9_2006:124] DOID:9786 bulbar polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, 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 speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing. [url:http\://en.wikipedia.org/wiki/Poliomyelitis] bulbar poliomyelitis EXACT [] DOID:9787 Foreign body granuloma of muscle DOID:9788 myositis fibrosa Interstitial myositis EXACT [ICD9CM_2006:728.81] DOID:979 angioid streaks of choroid DOID:9790 toxocariasis A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. [url:http\://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm] visceral larva migrans EXACT [] DOID:9794 hereditary choroidal atrophy DOID:9795 tuberculous meningitis tuberculoma of meninges EXACT [] DOID:9799 eye degenerative disease DOID:98 staphylococcal infectious disease DOID:980 choroidal sclerosis Choroidal degenerations EXACT [ICD9CM_2006:363.4] DOID:9801 tuberculous peritonitis A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false] DOID:9804 pneumococcal peritonitis A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20013929] DOID:9805 pneumococcal infectious disease DOID:9808 Goodpasture syndrome A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. [url:http\://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome] anti-glomerular basement membrane disease EXACT [] DOID:9809 hypersensitivity vasculitis DOID:981 diffuse secondary choroid atrophy DOID:9810 polyarteritis nodosa DOID:9811 partial circumpapillary choroid dystrophy DOID:9814 rheumatic heart disease Rheumatic carditis EXACT [SNOMEDCT_2005_07_31:201793007] DOID:9815 Recent retinal detachment, total or subtotal DOID:9816 partial recent retinal detachment with giant tear DOID:9818 retinal defect DOID:9819 delimited old retinal detachment DOID:982 disorganized type schizophrenia subchronic state with acute exacerbation DOID:9820 central gyrate choroidal dystrophy Choroidal dystrophy, serpiginous EXACT [MTHICD9_2006:363.54] DOID:9821 choroideremia progressive Choroidal Atrophy EXACT [NCI2004_11_17:C34469] DOID:9822 partial central choroid dystrophy Choroidal dystrophy, central areolar EXACT [MTHICD9_2006:363.53] DOID:9823 Partial recent retinal detachment with retinal dialysis DOID:9824 total or subtotal old retinal detachment DOID:9827 radioulnar synostosis DOID:9828 neonatal abstinence syndrome A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. [url:http\://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004566/] Drug withdrawal syndrome in newborn EXACT [SNOMEDCT_2005_07_31:61628006] DOID:9829 drug abstinence syndrome or symptom DOID:9834 hyperopia hypermetropia EXACT [ICD9CM_2006:367.0] DOID:9835 refractive error DOID:9836 refraction or accommodation disorder DOID:9837 hypertropia DOID:9838 cyclotropia DOID:9839 accommodative esotropia DOID:984 temporomandibular joint disorder TMJ-pain-dysfunction syndrome EXACT [MTHICD9_2006:524.60] DOID:9840 esotropia Esotropia is a strabismus in which the eye turns inward toward the nose. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+] Internal Strabismus EXACT [NCI2004_11_17:C34596] DOID:9841 hypotropia DOID:9842 total circumpapillary dystrophy of choroid Circumpapillary dystrophy of choroid, total EXACT [ICD9CM_2006:363.52] DOID:9843 monofixation syndrome DOID:9847 peripheral vertigo DOID:9848 endolymphatic hydrops labyrinthine hydrops EXACT [CSP2005:0977-6437] DOID:9849 Meniere's disease A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. [url:http\://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease] Otogenic vertigo EXACT [MTHICD9_2006:386.19] DOID:985 disorganized type schizophrenia subchronic state DOID:9854 lingual-facial-buccal dyskinesia Oro-facial dyskinesia EXACT [SNOMEDCT_2005_07_31:155007009] DOID:9855 syphilitic interstitial keratitis DOID:9856 congenital syphilis A syphilis that results_in a multisystem infection in the fetus via the placenta. [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] DOID:9857 interstitial keratitis DOID:9858 deep keratitis DOID:986 alopecia areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. [ls:IEDB, url:http\://en.wikipedia.org/wiki/Alopecia_areata] Circumscribed alopecia EXACT [SNOMEDCT_2005_07_31:238727007] DOID:9861 miliary tuberculosis An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. [url:http\://en.wikipedia.org/wiki/Disseminated_tuberculosis] Tuberculosis miliaris disseminata (disorder) EXACT [SNOMEDCT_2005_07_31:180213004] DOID:9866 lactation disorder DOID:9867 toxic maculopathy Toxic maculopathy of retina EXACT [ICD9CM_2006:362.55] DOID:9868 intestinal disaccharidase deficiency DOID:9869 hereditary fructose intolerance syndrome Fructosemia EXACT [MTHICD9_2006:271.2] DOID:987 alopecia A hypotrichosis that is characterized by a loss of hair from the head or body. [url:http\://en.wikipedia.org/wiki/Alopecia, url:http\://www.omim.org/entry/109200?search=109200&highlight=109200] DOID:9870 galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. [url:http\://en.wikipedia.org/wiki/Galactosemia] Galactose intolerance EXACT [SNOMEDCT_2005_07_31:190749000] DOID:9877 urethral gland abscess DOID:9878 Excessive vomiting starting after 22 completed weeks of gestation antepartum late vomiting of pregnancy EXACT [] DOID:988 mitral valve prolapse A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. [url:http\://en.wikipedia.org/wiki/Mitral_valve_prolapse, url:http\://ghr.nlm.nih.gov/glossary=mitralvalveprolapse, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract] systolic click-murmur syndrome RELATED [] DOID:9880 cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. [url:http\://emedicine.medscape.com/article/229461-overview#a0104, url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] DOID:9883 Becker muscular dystrophy Benign pseudohypertrophic muscular dystrophy EXACT [] DOID:9884 muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration. [url:http\://en.wikipedia.org/wiki/Muscular_dystrophy, url:http\://www.ninds.nih.gov/disorders/md/md.htm] DOID:9888 alternating esotropia DOID:9889 alternating esotropia with A pattern DOID:9890 intermittent alternating esotropia DOID:9891 alternating esotropia with V pattern DOID:9892 median arcuate ligament syndrome Marable's syndrome EXACT [] DOID:9893 periodontosis DOID:9898 villonodular synovitis DOID:9899 glaucoma associated with tumors or cysts DOID:990 congenital heart block An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. [PMID:22368629] DOID:9900 protracted reactive paranoid psychosis Psychogenic paranoid psychosis EXACT [ICD9CM_2006:298.4] DOID:9903 meibomian cyst A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. [url:http\://en.wikipedia.org/wiki/Chalazion] meibomian gland lipogranuloma EXACT [] DOID:9905 follicular mucinosis Alopecia mucinosa EXACT [SNOMEDCT_2005_07_31:27382006] DOID:9908 internal hordeolum DOID:9909 hordeolum Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. [url:http\://en.wikipedia.org/wiki/Hordeolum] Stye EXACT [MTHICD9_2006:373.11] DOID:9910 central corneal ulcer DOID:9911 infected hydrocele DOID:9912 hydrocele DOID:9913 axillary metastasis metastatic malignant tumor to the Axilla EXACT [NCI2004_11_17:C35748] DOID:9915 malignant neoplasm of ribs, sternum and clavicle Ca ribs/sternum/clavicle EXACT [SNOMEDCT_2005_07_31:154496009] DOID:9916 secondary malignant neoplasm to the chest wall DOID:9919 malignant neoplasm of thoracic esophagus DOID:992 Omsk hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm, url:http\://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php, url:http\://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf] DOID:9923 developmental coordination disorder A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001533.htm] DOID:9925 hyperostosis frontalis interna DOID:9929 meningococcal meningitis DOID:993 Flavivirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. [url:http\://en.wikipedia.org/wiki/Flavivirus] DOID:9930 primary Neisseriaceae infectious disease DOID:9931 Waterhouse-Friderichsen syndrome An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. [url:http\://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse] WFS EXACT [] DOID:9935 chronic inflammation of lacrimal passage DOID:9936 chronic canaliculitis DOID:9937 chronic dacryocystitis DOID:9938 dacryocystitis DOID:9939 dacryocystocele lacrimal mucocele EXACT [ICD9CM_2006:375.43] DOID:9940 Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium DOID:9942 lymph node disease DOID:9943 syphilitic episcleritis DOID:9945 constant exophthalmos DOID:9946 steroid-induced glaucoma Corticosteroid-induced glaucoma EXACT [ICD9CM_2006:365.3] DOID:9948 residual stage corticosteroid-induced glaucoma DOID:9952 acute lymphocytic leukemia A lymphoblastic leukemia that is characterized by over production of lymphoblasts. [url:http\://www.cancer.gov/dictionary?CdrID=46332] acute lymphoblastic leukemia EXACT [] DOID:9953 B- and T-cell mixed leukemia DOID:9954 null-cell leukemia Null cell acute lymphoblastic leukemia (disorder) EXACT [SNOMEDCT_2005_07_31:277574007] DOID:9955 hypoplastic left heart syndrome A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. [url:http\://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome, url:http\://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html] DOID:9957 periostitis DOID:9958 hemometra Hematometra EXACT [ICD9CM_2006:621.4] DOID:9965 toxoplasmosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. [url:http\://en.wikipedia.org/wiki/Toxoplasmosis] disseminated toxoplasmosis EXACT [] DOID:9969 carotenemia hypercarotinemia EXACT [ICD9CM_2006:278.3] DOID:997 uterine inversion DOID:9970 obesity DOID:9971 hypervitaminosis D DOID:9972 hypervitaminosis A DOID:9973 substance dependence A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Drug_dependence] DOID:9974 drug dependence A substance dependence that involves the continued use of drugs despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Drug_dependence] DOID:9975 cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine. [url:http\://en.wikipedia.org/wiki/Cocaine_dependence] DOID:9976 heroin dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Opioid_dependence] DOID:9977 hallucinogen dependence A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. [url:http\://en.wikipedia.org/wiki/Hallucinogenic_drugs] DOID:9978 acute female pelvic peritonitis DOID:998 eosinophilia-myalgia syndrome Eosinophilia myalgia syndrome EXACT [ICD9CM_2006:710.5] DOID:9986 orbit lymphoma orbital lymphoma (disorder) EXACT [SNOMEDCT_2005_07_31:13048006] DOID:9987 orbit sarcoma orbital sarcoma EXACT [NCI2004_11_17:C6095] DOID:9988 tertiary neurosyphilis A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000703.htm] late neurosyphilis EXACT [] DOID:9989 metastasis to the orbit secondary malignant neoplasm of orbit (disorder) EXACT [SNOMEDCT_2005_07_31:94453007] DOID:999 eosinophilia Eosinophilic leukocytosis EXACT [MTHICD9_2006:288.3] DOID:9993 hypoglycemia Hypoglycaemia EXACT [SNOMEDCT_2005_07_31:154691006] DOID:9995 endocrine and metabolic disturbances specific to the fetus and newborn DOID:9997 peripartum cardiomyopathy postpartum peripartum cardiomyopathy EXACT []