# Aarskog syndrome

> monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

**Wikidata**: [Q303123](https://www.wikidata.org/wiki/Q303123)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Aarskog–Scott_syndrome)  
**Source**: https://4ort.xyz/entity/aarskog-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Aarskog Syndrome - NORD (National Organization for Rare Disorders)](https://rarediseases.org/rare-diseases/aarskog-syndrome/)
4. UniProt
5. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/9513)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9513)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102302/MONDO_0010589)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. [SNOMED CT - Aarskog syndrome (disorder)](https://browser.ihtsdotools.org/?perspective=full&conceptId1=14921002&edition=MAIN/2022-05-31&release=&languages=en)