# Prader-Willi syndrome due to point mutation

> human disease

**Wikidata**: [Q48789662](https://www.wikidata.org/wiki/Q48789662)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Schaaf–Yang_syndrome)  
**Source**: https://4ort.xyz/entity/prader-willi-syndrome-due-to-point-mutation


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa89f10b-6ccf-4c69-aef3-fc2f6c8e6ea9-2021-06-01T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000254585/MONDO_0014243)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023