About: autosomal recessive limb-girdle muscular dystrophy type 2G

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autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP)

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP) (en)
exact match	wds:Q1531333-A51C5A98-5C06-48EA-8B27-F07C8C18172C wds:Q1531333-CB4E2C26-2411-4E33-B3B9-CC4D1E530566 wds:Q1531333-FF1BB5A8-3235-44A0-B9BD-50166776BD68
exact match	http://purl.obolibrary.org/obo/DOID_0110281 http://identifiers.org/doid/DOID:0110281 http://www.orpha.net/ORDO/Orphanet_34514
health specialty	wds:Q1531333-30B0903C-B9EF-49BF-A016-1F17985BF571
Mondo ID	wds:Q1531333-0C8BEC8F-3210-4C6D-A640-E20093480DE9
Disease Ontology ID	wds:Q1531333-62F1BB6B-B47C-4CFC-9B0A-F5EFE0DAAB74
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011170
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110281
health specialty	neurology
Mondo ID	MONDO_0011170
Disease Ontology ID	DOID:0110281
rdfs:label	Gliedergürteldystrophie 2G (de) dystrophie musculaire des ceintures type 2G (fr) autosomal recessive limb-girdle muscular dystrophy type 2G (en)
skos:prefLabel	Gliedergürteldystrophie 2G (de) dystrophie musculaire des ceintures type 2G (fr) autosomal recessive limb-girdle muscular dystrophy type 2G (en)
name	Gliedergürteldystrophie 2G (de) dystrophie musculaire des ceintures type 2G (fr) autosomal recessive limb-girdle muscular dystrophy type 2G (en)
instance of	wds:Q1531333-8EBA68A0-F196-43C6-A98B-65DFB4608E2E wds:Q1531333-916AE927-474E-44EA-9A8C-3853FB61C141
instance of	class of disease rare disease
subclass of	wds:Q1531333-07B3C2AE-9411-426C-AD32-18C0EA87A943 wds:Q1531333-C5A8C208-361B-40C0-BC7A-13DBA6431F0C
subclass of	autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of telethonin
Orphanet ID	wds:Q1531333-BB97C5EF-5F36-43C2-9940-B954989468D0
genetic association	wds:Q1531333-25BD5E6F-855A-490F-BAB2-124DA3C972C0
ICD-10-CM	wds:Q1531333-F406A17C-5B5C-4ECC-90BB-368AC57E7367
GARD rare disease ID	wds:Q1531333-38E65D1B-FFFE-4F6F-8956-3371F9915509
OMIM ID	wds:Q1531333-05314612-BEA7-4546-91EC-6A74FFE7DC18
Orphanet ID	34514
genetic association	TCAP
ICD-10-CM	G71.0
GARD rare disease ID	10471
OMIM ID	601954
skos:altLabel	LGMD2G (de) LGMD2G (en) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G (en) Telethoninopathie (de) muscular dystrophy, limb-girdle, type 2G (en) limb-girdle muscular dystrophy due to telethonin deficiency (en)
UMLS CUI	wds:Q1531333-98C9F5E9-D00A-42CD-AA11-7B38BE2784A6
MeSH descriptor ID	wds:Q1531333-9B7CF4B0-760F-4E79-86A3-33862B941B30
on focus list of Wikimedia project	wds:Q1531333-C5F00B9B-C459-4C12-8124-E4F61816A874
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C566599
UMLS CUI	C1866008
MeSH descriptor ID	C566599
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	autosomal recessive limb-girdle muscular dystrophy type 2G
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q1531333 https://de.wikipedia.org/wiki/Gliederg%C3%BCrteldystrophie_2G
is genetic association of	TCAP
is genetic association of	wds:Q18033105-426277FD-EC53-4B32-A50F-2EE87BFB1373

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