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. (5)
References:
  • GARD:10247
  • ICD10CM:Q90
  • ICD9CM:758.0
  • MESH:D004314
  • NCI:C2993
  • OMIM:190685
  • ORDO:870
  • SNOMEDCT_US_2023_03_01:41040004
  • UMLS_CUI:C0013080
Ontology: Human Disease   ( DOID:14250 )
OTHER Down syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
bz19Tg standard conditions Buchberger et al., 2021
PHENOTYPE No data available

CITATIONS (7)