Disease association ontology term - MONDO:0015280 - cardiofaciocutaneous syndrome

Term summary

ID

MONDO:0015280

Name

cardiofaciocutaneous syndrome

Ontology or CV name

Disease association

Definition

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a ectodermal dysplasia syndrome
• is_a Noonan syndrome and Noonan-related syndrome

Annotation