# X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

> human disease

**Wikidata**: [Q55782500](https://www.wikidata.org/wiki/Q55782500)  
**Source**: https://4ort.xyz/entity/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023