# autosomal recessive congenital ichthyosis

> congenital skin disease

**Wikidata**: [Q266421](https://www.wikidata.org/wiki/Q266421)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Harlequin-type_ichthyosis)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144452/MONDO_0009443)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144452/Orphanet_457)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)