# nail-patella syndrome

> Human disease

**Wikidata**: [Q2035109](https://www.wikidata.org/wiki/Q2035109)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Nail–patella_syndrome)  
**Source**: https://4ort.xyz/entity/nail-patella-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c89e1a52-3ef8-4a61-bf56-1e43cf88fc6e-2021-07-27T144211.405Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000136944/MONDO_0008061)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)