# autosomal recessive congenital ichthyosis 4A

> autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has material basis in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35

**Wikidata**: [Q28024529](https://www.wikidata.org/wiki/Q28024529)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis-4a


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.
5. Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144452/MONDO_0011026)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)