OBO ID: DOID:0112378
Term Name: muscular dystrophy-dystroglycanopathy type B3 Search Ontology:
Synonyms:
  • congenital muscular dystrophy POMGNT1-related
  • MDDGB3
Definition: A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on chromosome 1p34.1. (2)
References:
Ontology: Human Disease   (DOID:0112378)
OTHER muscular dystrophy-dystroglycanopathy type B3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 613151
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None