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Echinobase
Summary Literature (0)
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 limb-girdle type 2T, muscular dystrophy-dystroglycanopathy (limb-girdle) type C14, muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related,

Echinobase Genes : gmppb


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

Other Model Organisms: AGR, 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)