A RASopathy 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/17250658 url:https://www.ncbi.nlm.nih.gov/pubmed/907573 http://purl.obolibrary.org/obo/ECO_0007645 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS_CUI:C0587248
  • MESH:D056685
  • OMIM:218040
  • NCI:C84652
  • GARD:1550
  • SNOMEDCT_US_2022_03_01:205803001
Subsets

NCIthesaurus

comment
  • OMIM mapping confirmed by DO. [SN].
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.
has exact synonym
  • Faciocutaneoskeletal Syndrome
  • FCS SYNDROME
has obo namespace
  • disease_ontology
id
  • DOID:0050469