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Summary Literature (5)
DOID:14250 - Down syndrome


Disease Ontology 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.

Synonyms: Complete trisomy 21 syndrome, Complete trisomy 21 syndrome (disorder), Down's syndrome, Down's syndrome - trisomy 21, Downs syndrome, G Trisomy, trisomy 21 syndrome

In OMIM:
OMIM:190685 - DOWN SYNDROME

In Mondo Disease Ontology:
MONDO:0008608 - Down syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gata1, mtr, vps26c

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): chromosomal disease (is_a), chromosomal duplication syndrome (is_a)