OBO ID: DOID:0111236
Term Name: congenital muscular dystrophy-dystroglycanopathy type A3 Search Ontology:
Synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
  • MDDGA3
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. https://www.ncbi.nlm.nih.gov/pubmed/11709191
References:
Ontology: Human Disease   ( DOID:0111236 )
Relationships
is a type of:
OTHER congenital muscular dystrophy-dystroglycanopathy type A3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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