# autosomal recessive cutis laxa type IID

> autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13

**Wikidata**: [Q50349695](https://www.wikidata.org/wiki/Q50349695)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-iid


## 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](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)