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

Synonyms: Faciocutaneoskeletal Syndrome FCS SYNDROME

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:1550
  • MESH:D056685
  • UMLS_CUI:C0587248
  • NCI:C84652
  • SNOMEDCT_US_2020_09_01:205803001
  • OMIM:218040
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050469