|
| General Information | |||
|---|---|---|---|
| Term | Down syndrome | ID (Ontology) | DOID:14250 (Human Disease) |
| 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. | ||
| Also Known As | "Complete trisomy 21 syndrome" ; "Down's syndrome" ; "Down's syndrome - trisomy 21" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
chromosomal disease |__chromosomal duplication syndrome |__Down syndrome 46 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | chromosomal duplication syndrome | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:10247 ICD10CM:Q90 ICD9CM:758.0 MESH:D004314 MIM:190685 NCI:C2993 ORDO:870 SNOMEDCT_US_2023_03_01:41040004 UMLS_CUI:C0013080 |
|||