OBO ID: DOID:0112380
Term Name: muscular dystrophy-dystroglycanopathy type B2 Search Ontology:
Synonyms:
  • congenital muscular dystrophy POMT2-related
  • MDDGB2
Definition: A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. https://pubmed.ncbi.nlm.nih.gov/17634419/
References:
Ontology: Human Disease   ( DOID:0112380 )
Relationships
is a type of:
OTHER muscular dystrophy-dystroglycanopathy type B2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2 613156
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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