# SHORT syndrome

> medical condition

**Wikidata**: [Q7390227](https://www.wikidata.org/wiki/Q7390227)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/SHORT_syndrome)  
**Source**: https://4ort.xyz/entity/short-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/194f9130-2529-4016-a689-47ec259f941c--2018-07-06T15:30:21)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_194f9130-2529-4016-a689-47ec259f941c-2018-07-03T165117.140Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000145675/MONDO_0010026)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)