| 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 | |
| Subsets |
DO_rare_slim |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |