About: myofibrillar myopathy 6

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

Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) maladie (fr) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q21505524-96E6BD98-223A-4B32-88AA-0E95AA696322 wds:Q21505524-BD1C581E-9A27-4A54-923C-871A44C68ECF wds:Q21505524-BE60BFB7-E363-4223-9AE4-C9405E22A96E
exact match	http://purl.obolibrary.org/obo/DOID_0080097 http://identifiers.org/doid/DOID:0080097 http://www.orpha.net/ORDO/Orphanet_199340
Mondo ID	wds:Q21505524-2BF3171C-4583-4634-9C7A-EA54DA1581FC
Disease Ontology ID	wds:Q21505524-68187AC4-85CA-48B5-A02A-5E38F7317664
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013061
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080097
Mondo ID	MONDO_0013061
Disease Ontology ID	DOID:0080097
rdfs:label	dystrophie musculaire type Selcen (fr) myofibrillar myopathy 6 (en)
skos:prefLabel	dystrophie musculaire type Selcen (fr) myofibrillar myopathy 6 (en)
name	dystrophie musculaire type Selcen (fr) myofibrillar myopathy 6 (en)
instance of	wds:Q21505524-90419100-62F6-4A83-B1E0-56B555D0DAD5 wds:Q21505524-CE391F95-8A0D-4813-A89A-E9E00907AD6B
instance of	class of disease rare disease
subclass of	wds:Q21505524-34772C09-1441-45A1-BCB9-E6551489B27D wds:Q21505524-DED855C7-4513-4713-9F8F-8A97ABC92F28
subclass of	autosomal dominant disease myofibrillar myopathy
UniProt disease ID	wds:Q21505524-393dd697-4078-acc9-4d90-4361d8a427b7
Orphanet ID	wds:Q21505524-09154fa2-4940-f4bd-7fe4-aa4058dc47c6
genetic association	wds:Q21505524-2F8F6787-D63B-443E-B227-CA520B328FC7
ICD-10-CM	wds:Q21505524-ED0AF1F2-C8B8-4ED9-9E36-64D99BBF1AD4
OMIM ID	wds:Q21505524-7FFACDF0-C30E-46D0-B00E-5D737E1FFDA2
UniProt disease ID	DI-02541
Orphanet ID	199340
genetic association	BAG3
ICD-10-CM	G71.8
OMIM ID	612954
skos:altLabel	BAG3-related myofibrillar myopathy (en) MFM6 (en) MYOPATHY, MYOFIBRILLAR, 6 (en) MYOPATHY, MYOFIBRILLAR, 6; MFM6 (en) Muscular dystrophy, Selcen type (en) Myopathy, Myofibrillar, Bag3-Related (en) Myopathy, Myofibrillar, type 6 (en) myofibrillar myopathy type 6 (en) myopathie myofibrillaire type 6 (fr)
UMLS CUI	wds:Q21505524-85912BFC-6ADE-4096-B4F6-AFDA1877A1E5 wds:Q21505524-BAC2A7FE-7E95-498B-B742-FAA06CC8AEDA
MeSH descriptor ID	wds:Q21505524-D80E33FB-2A54-4073-AD5F-3D02E863FCC1
on focus list of Wikimedia project	wds:Q21505524-E65A65A2-9522-43B8-AA4B-7C03CA66867F
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567843
UMLS CUI	C2751831 C4509880
MeSH descriptor ID	C567843
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	myofibrillar myopathy 6
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q21505524
is genetic association of	BAG3
is genetic association of	wds:Q18034356-01FD6F7A-2462-492E-B8F5-CAA79E5468A7

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