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Costello syndrome

^ http://purl.obolibrary.org/obo/DOID_0050469


A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [ url:https://www.ncbi.nlm.nih.gov/pubmed/907573 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/17250658 ]

Synonyms: Faciocutaneoskeletal Syndrome, FCS SYNDROME

Term info

database cross reference
  • GARD:1550
  • UMLS_CUI:C0587248
  • MESH:D056685
  • NCI:C84652
  • OMIM:218040
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050469