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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:14250
EFO:0001064
GARD:0010247
ICD9:758.0
MESH:D004314
NCIT:C2993
OMIM:190685
Orphanet:870
SCTID:41040004
UMLS:C0013080
MONDO:0008608
High level summary of knowledge for a disease, including descriptions and datasource references.