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 GMPPB-related, muscular dystrophy-dystroglycanopathy (limb-girdle) type C14, muscular dystrophy limb-girdle type 2T

Xenbase 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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

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)