Term Name: | Down syndrome |
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Synonyms: | Complete trisomy 21 syndrome, Down's syndrome, Down's syndrome - trisomy 21, Downs syndrome, G Trisomy, trisomy 21 syndrome |
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. |
Ontology: | Human Disease [DOID:14250] ( DOID:14250 ) |