ZFIN Human Disease: autosomal recessive limb-girdle muscular dystrophy type 2G

OBO ID: DOID:0110281

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2G		Search Ontology:
Synonyms:	LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). https://www.ncbi.nlm.nih.gov/pubmed/10655062
References:	ICD10CM:G71.0 OMIM:601954 ORDO:34514
Ontology:	Human Disease ( DOID:0110281 )

Relationships

is a type of:	autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TCAP	tcap	Muscular dystrophy, limb-girdle, autosomal recessive 7	601954

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)