About: autosomal dominant disease

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genetic disease characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) مرض (ar) ժառանգական հիվանդություն, որը բնորոշվում է գենի մեկ հիվանդություն-զուգակցված մուտացիայի առկայությամբ, ինչը բավարար է հիվանդության զարգացման համար (hy) doença genética caracterizada pela presença de uma mutação de um gene que é suficiente para causar a doença (pt) genetic disease characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease (en)
exact match	wds:Q18553439-4BC82A84-98AF-422C-8D40-F7A88E2CCF17 wds:Q18553439-AB2C53A0-9C83-4E0E-8853-80813B06D4B6
exact match	http://purl.obolibrary.org/obo/DOID_0050736 http://identifiers.org/doid/DOID:0050736
Mondo ID	wds:Q18553439-B2076F40-AABB-469C-AFCA-4BF2F1A75578
Disease Ontology ID	wds:Q18553439-8620D245-D089-42F9-94CE-052B03EB15DB
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0000426
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050736
Mondo ID	MONDO_0000426
Disease Ontology ID	DOID:0050736
rdfs:label	autosomal dominant disease (en) autosomalt dominant sjukdom (nn) autozomálně dominantní onemocnění (cs) avtosomno dominantna bolezen (sl) aŭtosoma domina malsano (eo) заболевание с аутосомно-доминантным типом наследования (ru) doença autossómica dominante (pt) enfermedad autosómica dominante (es) gaixotasun autosomiko gainartzailea (eu) maladie à transmission autosomique dominante (fr) malaltia autosòmica dominant (ca) malattia autosomica dominante (it) աուտոսոմ դոմինանտ հիվանդություն (hy) مرض وراثي سائد (ar) 常染色体優性疾患 (ja) 상염색체 우성 질환 (ko)
skos:prefLabel	autosomal dominant disease (en) autosomalt dominant sjukdom (nn) autozomálně dominantní onemocnění (cs) avtosomno dominantna bolezen (sl) aŭtosoma domina malsano (eo) заболевание с аутосомно-доминантным типом наследования (ru) doença autossómica dominante (pt) enfermedad autosómica dominante (es) gaixotasun autosomiko gainartzailea (eu) maladie à transmission autosomique dominante (fr) malaltia autosòmica dominant (ca) malattia autosomica dominante (it) աուտոսոմ դոմինանտ հիվանդություն (hy) مرض وراثي سائد (ar) 常染色体優性疾患 (ja) 상염색체 우성 질환 (ko)
name	autosomal dominant disease (en) autosomalt dominant sjukdom (nn) autozomálně dominantní onemocnění (cs) avtosomno dominantna bolezen (sl) aŭtosoma domina malsano (eo) заболевание с аутосомно-доминантным типом наследования (ru) doença autossómica dominante (pt) enfermedad autosómica dominante (es) gaixotasun autosomiko gainartzailea (eu) maladie à transmission autosomique dominante (fr) malaltia autosòmica dominant (ca) malattia autosomica dominante (it) աուտոսոմ դոմինանտ հիվանդություն (hy) مرض وراثي سائد (ar) 常染色体優性疾患 (ja) 상염색체 우성 질환 (ko)
instance of	wds:Q18553439-E2E9CA61-1DCD-42E6-B334-7F668B33E040
instance of	class of disease
subclass of	wds:Q18553439-FBD18CD8-8D4A-4D11-859C-C42964EE4A4E
subclass of	autosomal genetic disease
has cause	wds:Q18553439-28268045-35DF-4C17-88A3-FB889F6BFCC8
has cause	autosomal dominant
ICD-9-CM	wds:Q18553439-D9BA20F8-689C-46C6-A2F4-496AA40BD232
ICD-9-CM	758.5
skos:altLabel	autosomal dominant hereditary disorder (en) autosomal dominant inherited disorder (en) autossómica dominante (pt) disease, autosomal dominant (en) enfermedad autosomica dominante (es) herança autossómica dominante (pt)
on focus list of Wikimedia project	wds:Q18553439-B1A704F1-5D49-469C-8D55-94D0B9A834F8
KBpedia ID	wds:Q18553439-5DF74466-C022-479E-8C14-1C5A812BD22D
topic's main category	wds:Q18553439-f72a7d2a-4dc2-62e0-61e5-1fed534d6435
KBpedia ID	rc:AutosomalDominantDisease
on focus list of Wikimedia project	WikiProject Medicine
KBpedia ID	AutosomalDominantDisease
topic's main category	Category:Autosomal dominant disorders
is owl:sameAs of	autosomal dominant disease
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553439
is instance of of	tritanopia
is instance of of	wds:Q18554140-41e05732-4b34-76d9-7dbb-ae64aceefebc
is subclass of of	diaphyseal medullary stenosis-bone malignancy syndrome rocker bottom foot myofibrillar myopathy 4 Jansen's metaphyseal chondrodysplasia Brown-Vialetto-Van Laere syndrome multiple endocrine neoplasia type 2A permanent neonatal diabetes mellitus Birk-Barel syndrome antithrombin III deficiency MonoMAC

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