# oculoauricular syndrome

> syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule

**Wikidata**: [Q22030614](https://www.wikidata.org/wiki/Q22030614)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Oculoauricular_syndrome)  
**Source**: https://4ort.xyz/entity/oculoauricular-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf66ec9-77a4-4e48-83a4-970639ad5373-2021-05-06T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000215612/MONDO_0012802)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023