ZFIN Human Disease: Costello syndrome

OBO ID: DOID:0050469

Term Name:	Costello syndrome		Search Ontology:
Synonyms:	Faciocutaneoskeletal Syndrome FCS SYNDROME
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. (2)
References:	GARD:1550 MESH:D056685 NCI:C84652 OMIM:218040 SNOMEDCT_US_2023_03_01:205803001 UMLS_CUI:C0587248
Ontology:	Human Disease ( DOID:0050469 )

Relationships

is a type of:	autosomal dominant disease RASopathy autosomal dominant disease RASopathy Show first 5 Terms

OTHER Costello syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HRAS	hrasa hrasb	Congenital myopathy with excess of muscle spindles	218040
		Costello syndrome	218040

ZEBRAFISH MODELS

Fish	Conditions	Citations
io1Gt/io1Gt	standard conditions	Santoriello et al., 2009
io2Gt/io2Gt	standard conditions	Santoriello et al., 2009

PHENOTYPE No data available

CITATIONS (2)