OntologiesdoidclassesDOID:14250   
Down syndrome
http://purl.obolibrary.org/obo/DOID_14250

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.

OMIM mapping confirmed by DO. [SN].

Also appears inbaoepio
Exact Synonyms
Complete trisomy 21 syndrome
Down's syndrome - trisomy 21
Down's syndrome
Downs syndrome
G Trisomy
trisomy 21 syndrome