Preferred Name |
Down syndrome |
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Synonyms |
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Definitions |
OMIM mapping confirmed by DO. [SN]. 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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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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