# colobomatous microphthalmia-rhizomelic dysplasia syndrome

> human disease

**Wikidata**: [Q55784801](https://www.wikidata.org/wiki/Q55784801)  
**Source**: https://4ort.xyz/entity/colobomatous-microphthalmia-rhizomelic-dysplasia-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023