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. [ http://purl.obolibrary.org/obo/ECO_0007637 url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-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
definition
  • 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.
has exact synonym
  • cardio-facial-cutaneous syndrome
  • CFC syndrome
has obo namespace
  • disease_ontology
id
  • DOID:0060233