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

OBO ID: DOID:0110284

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2L		Search Ontology:
Synonyms:	LGMD2L muscular dystrophy, limb-girdle, type 2L
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. https://www.ncbi.nlm.nih.gov/pubmed/20096397
References:	ICD10CM:G71.0 OMIM:611307 ORDO:206549
Ontology:	Human Disease ( DOID:0110284 )

Relationships

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

OTHER autosomal recessive limb-girdle muscular dystrophy type 2L PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ANO5	ano5a ano5b	Muscular dystrophy, limb-girdle, autosomal recessive 12	611307

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None