# Noonan syndrome

> congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

**Wikidata**: [Q1543446](https://www.wikidata.org/wiki/Q1543446)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Noonan_syndrome)  
**Source**: https://4ort.xyz/entity/noonan-syndrome


## References

1. Orphanet
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. [Orphanet](http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf)
5. [Source](http://www.patient.co.uk/patientplus/n.htm)
6. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/d910a9d8-516e-443d-acba-8d61f7574792--2018-06-07T14:23:53)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
9. UMLS 2023
10. Quora
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)