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loading...| Preferred Name |
Down syndrome |
|
| Synonyms |
trisomy 21 syndrome |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14250 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
UMLS_CUI:C0013080 MESH:D004314 ICD10CM:Q90 SNOMEDCT_US_2023_03_01:41040004 ICD9CM:758.0 GARD:10247 MIM:190685 NCI:C2993 ORDO:870 |
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| 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. |
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| has exact synonym |
trisomy 21 syndrome G Trisomy Down's syndrome Complete trisomy 21 syndrome Downs syndrome Down's syndrome - trisomy 21 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:14250 |
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| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
Down syndrome |
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| notation |
DOID:14250 |
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| prefLabel |
Down syndrome |
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| subClassOf |
Create mapping