autosomal recessive limb-girdle muscular dystrophy type 2T

Summary

DOID:0110294 - autosomal recessive limb-girdle muscular dystrophy type 2T

Disease Ontology 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.

Synonyms: LGMD2T, MDDGC14, muscular dystrophy-dystroglycanopathy (limb-girdle) type C14, muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related, muscular dystrophy limb-girdle type 2T

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gmppb

MIM:

MIM:615352 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14; mddgc14

MIM:615352 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14; mddgc14

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)