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

OBO ID: DOID:0110275

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2A		Search Ontology:
Synonyms:	Leyden-Moebius muscular dystrophy LGMD2A limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/7720071
References:	GARD:3845 ICD10CM:G71.0 OMIM:253600 ORDO:267
Ontology:	Human Disease ( DOID:0110275 )

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
CAPN3	capn3a capn3b	Muscular dystrophy, limb-girdle, autosomal recessive 1	253600

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None