# autosomal dominant palmoplantar keratoderma and congenital alopecia

> Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications

**Wikidata**: [Q55780305](https://www.wikidata.org/wiki/Q55780305)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000152661/MONDO_0007083)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023