A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. [ url:http://en.wikipedia.org/wiki/Down_syndrome url:http://ghr.nlm.nih.gov/condition/down-syndrome url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx ]

Synonyms: Downs syndrome Down's syndrome Complete trisomy 21 syndrome G Trisomy trisomy 21 syndrome Down's syndrome - trisomy 21

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:870
  • GARD:10247
  • OMIM:190685
  • UMLS_CUI:C0013080
  • MESH:D004314
  • ICD9CM:758.0
  • ICD10CM:Q90
  • SNOMEDCT_US_2020_09_01:41040004
  • NCI:C2993
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:14250