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

OBO ID: DOID:0110279

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2E		Search Ontology:
Synonyms:	Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/7581448
References:	ICD10CM:G71.0 OMIM:604286 ORDO:119
Ontology:	Human Disease ( DOID:0110279 )

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
SGCB	sgcb	Muscular dystrophy, limb-girdle, autosomal recessive 4	604286

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None