Down syndrome

Summary

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, Downs syndrome, Down's syndrome - trisomy 21, G Trisomy, trisomy 21 syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gata1, mtr, vps26c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008608 - Down syndrome

MONDO:0008608 - Down syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): chromosomal disease (is_a), chromosomal duplication syndrome (is_a)