Visualize Submit Comment
Metadata
ID DOID:14250
Name Down 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.
http://en.wikipedia.org/wiki/Down_syndrome, http://ghr.nlm.nih.gov/condition/down-syndrome, http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx, http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome, https://research.nhgri.nih.gov/atlas/condition/trisomy-21
Xrefs

GARD:10247

ICD10CM:Q90

ICD9CM:758.0

MESH:D004314

NCI:C2993

OMIM:190685

ORDO:870

SNOMEDCT_US_2023_03_01:41040004

UMLS_CUI:C0013080

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Complete trisomy 21 syndrome [EXACT]

Down's syndrome - trisomy 21 [EXACT]

Down's syndrome [EXACT]

Downs syndrome [EXACT]

G Trisomy [EXACT]

trisomy 21 syndrome [EXACT]

Parent Relationships

is_a chromosomal duplication syndrome

Add an item to the term tracker