OBO ID: DOID:0110639
Term Name: congenital muscular dystrophy due to integrin alpha-7 deficiency Search Ontology:
Synonyms:
  • congenital muscular dystrophy with integrin alpha-7 deficiency
  • congenital muscular dystrophy with ITGA7 deficiency
  • congenital myopathy due to integrin alpha-7 deficiency
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/9590299
References:
Ontology: Human Disease   (DOID:0110639)
OTHER congenital muscular dystrophy due to integrin alpha-7 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency 613204
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None