# Floating-Harbor syndrome

> genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay

**Wikidata**: [Q5459852](https://www.wikidata.org/wiki/Q5459852)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Floating–Harbor_syndrome)  
**Source**: https://4ort.xyz/entity/floating-harbor-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000080603/MONDO_0007621)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)