# Disease(DOID)
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DOID:0050351 | primary Clostridium infectious disease | null | null |
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] | null |
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/] | null |
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] | null |
DOID:0050355 | opportunistic Burkholderiaceae infectious disease | null | null |
DOID:0050357 | Burkholderia cenocepacia infectious disease | null | null |
DOID:0050358 | commensal Chlamydiaceae infectious disease | null | null |
DOID:0050359 | Bilophila wadsworthia necrotizing fasciitis | null | null |
DOID:0050360 | commensal Enterobacteriaceae infectious disease | null | null |
DOID:0050361 | opportunistic Enterobacteriaceae infectious disease | null | null |
DOID:0050362 | Elizabethkingia meningoseptica infectious disease | null | null |
DOID:0050363 | Capnocytophaga canimorsus infectious disease | null | null |
DOID:0050364 | opportunistic Flavobacteriaceae infectious disease | null | null |
DOID:0050365 | Chryseobacterium indologenes infectious disease | null | null |
DOID:0050366 | Empedobacter brevis endophthalmitis | null | null |
DOID:0050367 | Myroides odoratus necrotizing fasciitis | null | null |
DOID:0050368 | commensal Fusobacteriaceae infectious disease | null | null |
DOID:0050369 | primary Mycoplasmataceae infectious disease | null | null |
DOID:0050370 | commensal Neisseriaceae infectious disease | null | null |
DOID:0050371 | commensal Pasteurellaceae infectious disease | null | null |
DOID:0050372 | commensal Haemophilus infectious disease | null | null |
DOID:0050373 | Leptospiraceae infectious disease | null | null |
DOID:0050374 | Spirochaetaceae infectious disease | null | null |
DOID:0050375 | primary Spirillaceae infectious disease | null | null |
DOID:0050376 | anaplasmosis | null | null |
DOID:0050377 | Burkholderia cepacia complex infectious disease | null | null |
DOID:0050378 | opportunistic Campylobacteraceae infectious disease | null | null |
DOID:0050379 | Campylobacter fetus infectious disease | null | null |
DOID:0050380 | Campylobacter coli infectious disease | null | null |
DOID:0050381 | Chlamydia trachomatis epididymitis | null | null |
DOID:0050382 | glandular tularemia | A tularemia that results_in swelling of regional lymph glands. [url:http\://www.cdc.gov/tularemia/signssymptoms/] | null |
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] | null |
DOID:0050384 | commensal Helicobacteraceae infectious disease | null | null |
DOID:0050385 | commensal Helicobacter infectious disease | null | null |
DOID:0050386 | Acinetobacter baumannii pneumonia | null | null |
DOID:0050387 | nonpapillary renal cell carcinoma | null | null |
DOID:0050388 | Bacteroides fragilis peritonitis | null | null |
DOID:0050389 | Capnocytophaga canimorsus meningitis | null | null |
DOID:0050390 | Capnocytophaga canimorsus endocarditis | null | null |
DOID:0050391 | Elizabethkingia meningoseptica meningitis | null | null |
DOID:0050392 | streptococcal necrotizing fasciitis | null | null |
DOID:0050393 | Chryseobacterium indologenes pneumonia | null | null |
DOID:0050394 | nocardial pneumonia | null | null |
DOID:0050395 | nocardial cellulitis | null | null |
DOID:0050396 | nocardial keratitis | null | null |
DOID:0050397 | cerebral Bilophila wadsworthia infectious disease | null | null |
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 | null | null |
DOID:0050400 | Pseudomonas urinary tract infectious disease | null | null |
DOID:0050401 | Pseudomonas endocarditis | null | null |
DOID:0050402 | Pseudomonas keratitis | null | null |
DOID:0050403 | commensal Mycoplasmatales infectious disease | null | null |
DOID:0050404 | commensal Mycoplasmataceae infectious disease | null | null |
DOID:0050405 | Mycoplasma genitalium urethritis | null | null |
DOID:0050406 | Yersinia pseudotuberculosis mesenteric lymphadenitis | null | null |
DOID:0050407 | commensal Mycoplasma infectious disease | null | null |
DOID:0050408 | Staphylococcus aureus ecthyma | null | null |
DOID:0050409 | Streptococcus pyogenes ecthyma | null | null |
DOID:0050410 | streptococcal erysipelas | null | null |
DOID:0050411 | Staphylococcus aureus erysipelas | null | null |
DOID:0050412 | Streptococcus impetigo | null | null |
DOID:0050413 | Staphylococcus aureus impetigo | null | null |
DOID:0050414 | Streptococcus lymphangitis | null | null |
DOID:0050415 | Staphylococcus aureus lymphangitis | null | null |
DOID:0050416 | Streptococcus agalactiae meningitis | null | null |
DOID:0050417 | Streptococcus equisimilis meningitis | null | Streptococcus dysgalactiae subsp. equisimilis meningitis EXACT [] |
DOID:0050418 | Streptococcus zooepidemicus meningitis | null | Streptococcus equi subsp. zooepidemicus meningitis EXACT [] |
DOID:0050419 | complement factor I deficiency | null | COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY EXACT [] |
DOID:0050420 | primary Streptococcaceae infectious disease | null | null |
DOID:0050421 | primary streptococcal infectious disease | null | null |
DOID:0050422 | Yersinia pseudotuberculosis gastroenteritis | null | null |
DOID:0050423 | enteroaggregative Escherichia coli infectious disease | null | 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 | null | null |
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] | null |
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 | null | 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] | null |
DOID:0050433 | fatal familial insomnia | null | null |
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 | null | PERICARDIAL CONSTRICTION AND GROWTH FAILURE EXACT [] |
DOID:0050437 | Danon disease | null | PSEUDOGLYCOGENOSIS II EXACT [] |
DOID:0050438 | Frasier syndrome | null | null |
DOID:0050439 | Usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. [url:http\://en.wikipedia.org/wiki/Usher_syndrome] | null |
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 | null | Sulfatidosis, Juvenile, Austin Type EXACT [] |
DOID:0050444 | infantile refsum disease | null | 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 | null | PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE EXACT [] |
DOID:0050450 | Gitelman syndrome | null | 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] | null |
DOID:0050452 | mevalonic aciduria | null | 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] | null |
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 | null | null |
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 [] |