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Disease Ontology Browser
Down syndrome (DOID:14250)
Synonyms: Complete trisomy 21 syndrome (disorder); Down's syndrome; Down's syndrome - trisomy 21; Downs syndrome; G Trisomy; trisomy 21 syndrome
Alt IDs: OMIM:190685, ICD10CM:Q90, ICD10CM:Q90.9, ICD9CM:758.0, MESH:D004314, NCI:C101222, NCI:C2993, UMLS_CUI:C0013080
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.

Disease References using Mouse Models (76)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory