# congenital muscular dystrophy due to integrin alpha-7 deficiency

> congenital muscular dystrophy characterized by autosomal recessive inheritance that has material basis in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13

**Wikidata**: [Q32139695](https://www.wikidata.org/wiki/Q32139695)  
**Source**: https://4ort.xyz/entity/congenital-muscular-dystrophy-due-to-integrin-alpha-7-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the integrin alpha7 gene cause congenital myopathy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135424/MONDO_0013177)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135424/Orphanet_34520)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)