# autosomal recessive congenital ichthyosis 1

> autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2

**Wikidata**: [Q28024490](https://www.wikidata.org/wiki/Q28024490)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000092295/MONDO_0015085)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023