# IMAGe syndrome

> syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has physical basis in heterozygous mutation in the CDKN1C gene

**Wikidata**: [Q18553534](https://www.wikidata.org/wiki/Q18553534)  
**Source**: https://4ort.xyz/entity/image-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000129757/MONDO_0013873)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)