OBO ID: DOID:0112377
Term Name: muscular dystrophy-dystroglycanopathy type B14 Search Ontology:
Synonyms:
  • congenital muscular dystrophy GMPPB-related
  • MDDGB14
Definition: A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in GMPPB on chromosome 3p21.31. https://pubmed.ncbi.nlm.nih.gov/23768512/
References:
Ontology: Human Disease   (DOID:0112377)
OTHER muscular dystrophy-dystroglycanopathy type B14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None