Down Syndrome
Disease ID: disease_node_2585
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| Dbxref | GARD:10247, ICD10CM:Q90, ICD9CM:758.0, MESH:D004314, MIM:190685, NCI:C2993, ORDO:870, SNOMEDCT_US_2023_03_01:41040004, UMLS_CUI:C0013080 |
|---|---|
| Subclassof | DOID_0060429 |
| Data Source | DOID, MESH |
| Synonyms | Complete trisomy 21 syndrome, Down's syndrome, Down's syndrome - trisomy 21, Downs syndrome, G Trisomy, trisomy 21 syndrome |
| Mesh Id | D004314 |
| Mesh Label | Down Syndrome |
| Mesh Subclassof | D008607, D000015, D025063 |
| Doid Label | Down syndrome |
| Doid Description | 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]. |
| Disease Node Id | disease_node_2585 |
| Doid Id | DOID_14250 |
| Label | Down Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Duplication Syndrome(ID:disease_node_13621) (Disease)