| Metadata | |
|---|---|
| ID | DOID:14250 |
| Name | Down 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. http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome, http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx, http://en.wikipedia.org/wiki/Down_syndrome, http://ghr.nlm.nih.gov/condition/down-syndrome, https://research.nhgri.nih.gov/atlas/condition/trisomy-21 |
| Xrefs |
SNOMEDCT_US_2023_03_01:41040004 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Complete trisomy 21 syndrome [EXACT] Down's syndrome - trisomy 21 [EXACT] Down's syndrome [EXACT] Downs syndrome [EXACT] G Trisomy [EXACT] trisomy 21 syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some chromosome and has material basis in some duplication |