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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
| OMIM:190685 - DOWN SYNDROME |
| 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