OBO ID: DOID:14250
Term Name: Down syndrome Search Ontology:
Synonyms:
  • Complete trisomy 21 syndrome
  • Down's syndrome
  • Down's syndrome - trisomy 21
  • Downs syndrome
  • G Trisomy
  • trisomy 21 syndrome
Definition: 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. (4)
References:
  • CSP2005:1254-8068
  • GARD:10247
  • ICD10CM:Q90
  • ICD10CM:Q90.9
  • ICD9CM:758.0
  • MESH:D004314
  • MTHICD9_2006:758.0
  • NCI2004_11_17:C2993
  • NCI:C2993
  • OMIM:190685
  • ORDO:870
  • SNOMEDCT_US_2018_03_01:41040004
  • UMLS_CUI:C0013080
Ontology: Human Disease   (DOID:14250)
OTHER Down syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATA1 Leukemia, megakaryoblastic, with or without Down syndrome, somatic 190685
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (4)