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Metadata
DOID 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
Xrefs

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

SNOMEDCT_US_2018_03_01:41040004

UMLS_CUI:C0013080

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

Complete trisomy 21 syndrome [EXACT]

Down's syndrome [EXACT]

Down's syndrome - trisomy 21 [EXACT]

Downs syndrome [EXACT]

G Trisomy [EXACT]

trisomy 21 syndrome [EXACT]

Relationships

is_a chromosomal disease

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