About: dilated cardiomyopathy 1J

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

A dilated cardiomyopathy that has material basis in mutation in the EYA4 gene on chromosome 6q23.2.

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) A dilated cardiomyopathy that has material basis in mutation in the EYA4 gene on chromosome 6q23.2. (en)
exact match	wds:Q28024563-0D24CEFE-4C16-4F80-A87E-DAAE1AC05698 wds:Q28024563-881F9176-1E13-4633-B6E2-AB8074A4D034
exact match	http://purl.obolibrary.org/obo/DOID_0110440 http://identifiers.org/doid/DOID:0110440
Mondo ID	wds:Q28024563-01EA3E7C-14B2-4AC9-8A6C-FEC881B11DA0
Disease Ontology ID	wds:Q28024563-A4231D4F-43DE-4DBF-BF92-A9C4C6B569B5
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011541
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110440
Mondo ID	MONDO_0011541
Disease Ontology ID	DOID:0110440
rdfs:label	dilated cardiomyopathy 1J (en)
skos:prefLabel	dilated cardiomyopathy 1J (en)
name	dilated cardiomyopathy 1J (en)
instance of	wds:Q28024563-9C832715-D099-4CD3-BB20-45E427956CE9 wds:Q28024563-BFD89EBE-6E48-41E6-B3B0-C6AE63CEE4D7
instance of	class of disease rare disease
subclass of	wds:Q28024563-1C0C849B-0AF9-469C-A1E9-0D5AA0C2B396 wds:Q28024563-1FB3B6BF-BBF8-4543-8B09-4637C4356DEB wds:Q28024563-82E2C8C5-B270-4328-8B18-735FFCC9A10A wds:Q28024563-8501B9F0-B775-472C-938C-3DB12610DF38
subclass of	genetic disease monogenic disease dilated cardiomyopathy syndrome associated with dilated cardiomyopathy
UniProt disease ID	wds:Q28024563-8b10f8f2-4351-2491-55be-7f9b0e21a186
Orphanet ID	wds:Q28024563-691C28D6-6096-4CD1-8284-E7824B1AF17C
genetic association	wds:Q28024563-599251FD-8ACC-41F4-BCCD-DE661FC64AA3
OMIM ID	wds:Q28024563-4856C6AA-F96E-4E00-A6C3-927E9DA2249E
UniProt disease ID	DI-00217
Orphanet ID	217622
genetic association	EYA4
OMIM ID	605362
skos:altLabel	CARDIOMYOPATHY, DILATED, 1J (en) CARDIOMYOPATHY, DILATED, 1J; CMD1J (en) CMD1J (en) Cardiomyopathy, Dilated, type 1J (en) dilated cardiomyopathy type 1J (en) neurosensory deafness with dilated cardiomyopathy (en) sensorineural deafness with dilated cardiomyopathy (en) autosomal dominant dilated cardiomyopathy with sensorineural hearing loss (en) neurosensory hearing loss with dilated cardiomyopathy (en) Cardiomyopathy, Dilated, With Sensorineural Hearing Loss, Autosomal Dominant (en) sensorineural hearing loss with dilated cardiomyopathy (en)
UMLS CUI	wds:Q28024563-0F45DE2C-D8E9-4CDD-8977-34545EB9284C wds:Q28024563-93A9FFA9-8177-40C0-995C-B46518FE6226
MeSH descriptor ID	wds:Q28024563-4A01582D-536C-4FB5-9EA8-A55127974670
on focus list of Wikimedia project	wds:Q28024563-CF2A08BC-49E8-481D-BB2D-1A3195E47072
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C565337
UMLS CUI	C1854368 C5679819
MeSH descriptor ID	C565337
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28024563
is genetic association of	EYA4
is genetic association of	wds:Q17917387-5193B2DF-EC58-409E-87F6-D291FFE12702

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