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Metadata
ID DOID:0110639
Name congenital muscular dystrophy 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
Xrefs

ICD10CM:G71.2

OMIM:613204

ORDO:34520

Synonyms

congenital muscular dystrophy with integrin alpha-7 deficiency [EXACT]

congenital muscular dystrophy with ITGA7 deficiency [EXACT]

congenital myopathy due to integrin alpha-7 deficiency [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital muscular dystrophy

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