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Down syndrome

Disease Summary
Associated Targets (503)
Tbio

372

Tchem

87

Tclin

28

Tdark

16


Mondo Description Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008608:  Down syndrome
EFO:0001064: 
GARD:0010247: 
ICD9:758.0: 
MESH:D004314: 
NCIT:C2993: 
Orphanet:870: 
SCTID:41040004: 
UMLS:C0013080: