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

OBO ID: DOID:0080762

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2Z		Search Ontology:
Synonyms:	limb-girdle muscular dystrophy 21
Definition:	An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. (2)
References:	OMIM:617232 ORDO:480682
Ontology:	Human Disease ( DOID:0080762 )

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 2Z PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POGLUT1	poglut1	Muscular dystrophy, limb-girdle, autosomal recessive 21	617232

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None