|  Help  |  About  |  Contact Us

DO Term : autosomal recessive limb-girdle muscular dystrophy type 2T [DOID:0110294] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C14,
  • muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related,
  • ORDO:363623,
  • muscular dystrophy limb-girdle type 2T,
  • OMIM:615352,
  • LGMD2T,
  • MDDGC14,
  • 615352,
  • ICD10CM:G71.0
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents