Summary Literature (0)

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,

Echinobase Genes :


OMIM:

MIM:190685 - down syndrome trisomy 21, included;; down syndrome chromosome region, included; dcr, included;; down syndrome critical region, included; dscr, included;; transient myeloproliferative disorder of down syndrome, included;; leukemia, megakaryoblastic, of down

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

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