Search Ontology:
Human Disease

congenital muscular dystrophy due to integrin alpha-7 deficiency

Term ID
DOID:0110639
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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