# McKusick–Kaufman syndrome

> McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations

**Wikidata**: [Q3508674](https://www.wikidata.org/wiki/Q3508674)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/McKusick–Kaufman_syndrome)  
**Source**: https://4ort.xyz/entity/mckusick-kaufman-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)