# orofaciodigital syndrome I

> orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene

**Wikidata**: [Q3508786](https://www.wikidata.org/wiki/Q3508786)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1)  
**Source**: https://4ort.xyz/entity/orofaciodigital-syndrome-i


## References

1. Disease Ontology
2. Identification of the gene for oral-facial-digital type I syndrome
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000046651/Orphanet_2750)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)