A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. [ url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome http://purl.obolibrary.org/obo/ECO_0007636 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome http://purl.obolibrary.org/obo/ECO_0007637 ]

Synonyms: CFC syndrome cardio-facial-cutaneous syndrome

This is just here as a test because I lose it

Term information

database cross reference
Subsets

DO_rare_slim

comment

NT MGI.

created by

emitraka

creation date

2015-01-23T15:37:07Z

has obo namespace

disease_ontology

id

DOID:0060233