About   Help   FAQ
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 (109)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory