# autosomal recessive cutis laxa type IIC

> autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11

**Wikidata**: [Q50349706](https://www.wikidata.org/wiki/Q50349706)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-iic


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023