Preferred Name

Costello Syndrome [Disease/Finding]

Synonyms

Faciocutaneoskeletal Syndrome

ID

http://purl.bioontology.org/ontology/NDFRT/N0000181164

altLabel

Faciocutaneoskeletal Syndrome

FCS Syndrome

Costello Syndrome

cui

C0587248

MESH DEFINITION

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).

MESH DUI

D056685

MeSH name

Costello Syndrome

MESH UI

M0528444

NDFRT kind

DISEASE_KIND

notation

N0000181164

NUI

N0000181164

prefLabel

Costello Syndrome [Disease/Finding]

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000000266

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