# Costello syndrome

> syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays

**Wikidata**: [Q1136492](https://www.wikidata.org/wiki/Q1136492)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Costello_syndrome)  
**Source**: https://4ort.xyz/entity/costello-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Monarch Disease Ontology release 2018-06-29
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Germline mutations in HRAS proto-oncogene cause Costello syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8--2018-07-24T17:34:15)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8-2018-07-24T173415.869Z)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8-2018-07-24T160000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000174775/MONDO_0009026)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/ea72ba8d-cf62-44bc-86be-da64e3848eba--2018-06-07T14:34:05)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)