loading...| Preferred Name |
Down syndrome |
| Synonyms |
trisomy 21 syndrome |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14250 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:41040004 ICD10CM:Q90 ORDO:870 MESH:D004314 UMLS_CUI:C0013080 NCI:C2993 OMIM:190685 ICD9CM:758.0 GARD:10247 |
| 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. |
| has exact synonym |
trisomy 21 syndrome Complete trisomy 21 syndrome G Trisomy Down's syndrome Downs syndrome Down's syndrome - trisomy 21 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14250 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Down syndrome |
| notation |
DOID:14250 |
| prefLabel |
Down syndrome |
| subClassOf |