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Drug Target Ontology
Last uploaded:
February 15, 2018
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| Preferred Name | Down syndrome | |
| Synonyms |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14250 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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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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| hasDbXref |
SNOMEDCT_US_2016_03_01:41040004 NCI:C101222 SNOMEDCT_US_2016_03_01:254263008 MESH:D004314 SNOMEDCT_US_2016_03_01:205618003 ICD10CM:Q90 SNOMEDCT_US_2016_03_01:157019002 ICD10CM:Q90.9 ICD9CM:758.0 UMLS_CUI:C0013080 OMIM:190685 NCI:C2993 SNOMEDCT_US_2016_03_01:205614001
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| hasExactSynonym |
Downs syndrome Down's syndrome trisomy 21 syndrome Down's syndrome - trisomy 21 G Trisomy Complete trisomy 21 syndrome (disorder)
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| hasOBONamespace |
disease_ontology
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| id |
DOID:14250
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| imported from | ||
| inSubset | ||
| label |
Down syndrome
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| prefixIRI |
DOID:14250
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| prefLabel |
Down syndrome
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| subClassOf |
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