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Metadata
ID DOID:0050469
Name Costello 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.
https://www.ncbi.nlm.nih.gov/pubmed/17250658, https://www.ncbi.nlm.nih.gov/pubmed/907573
Xrefs

GARD:1550

MESH:D056685

NCI:C84652

OMIM:218040

SNOMEDCT_US_2023_03_01:205803001

UMLS_CUI:C0587248

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Faciocutaneoskeletal Syndrome [EXACT]

FCS SYNDROME [EXACT]

Parent Relationships

is_a RASopathy

is_a autosomal dominant disease

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