Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2T

Term ID
DOID:0110294
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
Ontology
Human Disease   ( DOID:0110294 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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