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

OBO ID: DOID:0110294

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2T		Search Ontology:
Synonyms:	LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23768512
References:	ICD10CM:G71.0 OMIM:615352 ORDO:363623
Ontology:	Human Disease ( DOID:0110294 )

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 2T PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GMPPB	gmppb	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	615352

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None