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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Down syndrome | |
| Synonyms |
trisomy 21 syndrome G Trisomy Down's syndrome Complete trisomy 21 syndrome Downs syndrome Down's syndrome - trisomy 21 |
|
| 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 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
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|
| alternative label |
trisomy 21 syndrome G Trisomy Down's syndrome Complete trisomy 21 syndrome Downs syndrome Down's syndrome - trisomy 21
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| database_cross_reference |
UMLS_CUI:C0013080 OMIM:190685 MESH:D004314 ICD10CM:Q90 SNOMEDCT_US_2023_03_01:41040004 ICD9CM:758.0 GARD:10247 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. OMIM mapping confirmed by DO. [SN].
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| equivalentClass | ||
| 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 |
|
| label |
Down syndrome
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|
| notation |
DOID:14250
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|
| note |
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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|
| preferred label |
Down syndrome
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|
| prefLabel |
Down syndrome
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| subClassOf |
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