# terminal osseous dysplasia with pigmentary defects

> Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis

**Wikidata**: [Q7702740](https://www.wikidata.org/wiki/Q7702740)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Terminal_osseous_dysplasia_with_pigmentary_defects)  
**Source**: https://4ort.xyz/entity/terminal-osseous-dysplasia-with-pigmentary-defects


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196924/Orphanet_88630)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023