About: Fabry disease

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

rare human genetic lysosomal storage disorder

Attributes	Values
rdf:type	Item
owl:sameAs	Fabry disease
description	malattia umana (it) Maladie génétique (fr) erfelijke ziekte (nl) tipo de doença (pt-br) редкое генетически детерминированное заболевание из группы лизосомных болезней накопления (ru) doenza xenética rara (gl) perinnöllinen entsyyminpuutostauti (fi) rare human genetic lysosomal storage disorder (en) rzadka, genetycznie uwarunkowana choroba (pl) seltene angeborene Stoffwechselkrankheit (de) خلل وراثي نادر سببه عيب في إحدى مورّثات الجسم (ar) лізосомні хвороби накопичення (uk)
exact match	wds:Q615645-3AFD3FF1-E414-4B8C-B3C8-E4A4EAD810C9 wds:Q615645-99123475-B90D-47C6-B694-7F602E6A0FFF wds:Q615645-B680996C-8AE3-4FF9-884A-1172A368772A wds:Q615645-E53CC18F-08ED-466A-8E16-1B6CE58B3445
exact match	http://purl.obolibrary.org/obo/DOID_14499 http://purl.obolibrary.org/obo/HP_0001071 http://identifiers.org/doid/DOID:14499 http://www.orpha.net/ORDO/Orphanet_324
health specialty	wds:Q615645-D076B12D-999A-4756-946C-944018893AB4 wds:Q615645-dfad721f-480b-2a0e-af1c-f3a2a0a8bb5b wds:Q615645-e1a1db70-4960-2da5-29f6-097e228979e0 wds:Q615645-f322381a-47e4-953e-f565-5a7dc1006571
drug or therapy used for treatment	wds:Q615645-8ff098aa-446e-3b9f-8dcb-f20b39b2a94c wds:Q615645-F497DD3A-BAB0-43F9-9A0F-C4E1463764C7
Mondo ID	wds:Q615645-81800613-9B45-407F-B81C-AF8C9CD40E8E
DiseasesDB	wds:q615645-135E209E-9B0F-4B54-863D-123C58302499
ICPC 2 ID	wds:Q615645-2387F5FD-0071-4108-B120-37641498F0DE
Disease Ontology ID	wds:Q615645-9C61B9DB-D28A-4CEB-8098-A43E7C195BED
symptoms and signs	wds:Q615645-1a903b75-45f1-097c-69a5-fd09352f82e0 wds:Q615645-20e688c0-42b0-599d-b4ab-96ddbe5c5394 wds:Q615645-57c17070-4f9c-fe8e-5367-3c70df83cf89 wds:Q615645-65ed5579-4868-85f9-ae2f-e723d8f26425 wds:Q615645-66cd1b79-4d8f-4366-6e19-66f716c3347b wds:Q615645-811fcd1d-4af0-656f-bdac-63d2e5525dd4 wds:Q615645-8d1e03ae-4b54-67a5-13ca-56f25aaa75f5 wds:Q615645-981f6f16-43b6-4da2-fc4a-f249536c120f wds:Q615645-b5cefdba-4a33-f690-ea51-0113fefff81a wds:Q615645-bcd713e3-4bfd-5d5e-434e-67c25d72d6f0 wds:Q615645-f0815886-49ee-0335-25e7-d79a8d1e3c60 wds:Q615645-f2e35e5f-4618-3a38-994a-18e6c5449c7c
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010526
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:14499
health specialty	dermatology endocrinology cardiology nephrology
drug or therapy used for treatment	agalsidase beta migalastat hydrochloride
Mondo ID	MONDO_0010526
DiseasesDB	4638
ICPC 2 ID	T99
Disease Ontology ID	DOID:14499
symptoms and signs	pain anhidrosis restrictive cardiomyopathy acute kidney injury peripheral neuropathy fatigue angiokeratoma cornea verticillata nausea arterial hypertension chronic neuropathic pain vertigo
rdfs:label	Fabry disease (en) Anderson-Fabrys sjukdom (sv) Choroba Fabry'ego (pl) Doenza de Fabry (gl) Fabry hastalığı (tr) Fabry tõbi (et) Fabryjeva bolezen (sl) Fabryn tauti (fi) Morbus Fabry (de) doença de Fabry (pt) doença de Fabry (pt-br) enfermedad de Fabry (es) maladie de Fabry (fr) malaltia de Fabry (ca) malattia di Fabry (it) ziekte van Fabry (nl) Болезнь Фабри (ru) Фабри чире (tt) Фабриева болест (mk) Фабријева болест (sr) Хвороба Фабрі (uk) Ֆաբրիի հիվանդություն (hy) מחלת פברי (he) بیماری فابری (fa) فیبری بیماری (ur) مرض فابري (ar) ファブリー病 (ja) 法布瑞氏症 (zh) 法布瑞氏症 (zh-tw) 法布雷病 (zh-cn) 파브리병 (ko)
skos:prefLabel	Fabry disease (en)

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