Costello syndrome

Summary

DOID:0050469 - Costello syndrome

Disease Ontology Definition:A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

Synonyms: Faciocutaneoskeletal Syndrome, FCS SYNDROME

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hras, kras

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009026 - Costello syndrome

MONDO:0009026 - Costello syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), RASopathy (is_a), syndrome (is_a)