Disease-gene associations mined from literature

Human genes for Down syndrome

Down syndrome [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.

Synonyms:  Down syndrome,  DOID:14250,  Down disease,  Down disorder,  Down syndromes ...

Linkouts:  OMIM