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

OBO ID: DOID:0110290

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2X		Search Ontology:
Synonyms:	LGMD2X muscular dystrophy, limb-girdle, type 2X
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/26642364
References:	OMIM:616812 ORDO:476084
Ontology:	Human Disease ( DOID:0110290 )

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
BVES	bves	Muscular dystrophy, limb-girdle, autosomal recessive 25	616812

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None