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Disease Ontology Browser
Down syndrome (DOID:14250)
Alliance: disease page
Synonyms: Complete trisomy 21 syndrome; Down's syndrome; Down's syndrome - trisomy 21; Downs syndrome; G Trisomy; trisomy 21 syndrome
Alt IDs: OMIM:190685, ICD10CM:Q90, ICD9CM:758.0, MESH:D004314, NCI:C2993, ORDO:870, 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 (96)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory