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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14250 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| 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 MESH:D004314 ICD10CM:Q90 SNOMEDCT_US_2023_03_01:41040004 ICD9CM:758.0 GARD:10247 MIM:190685 NCI:C2993 ORDO:870
|
|
| 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].
|
|
| 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
|
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Down syndrome
|
|
| notation |
DOID:14250
|
|
| 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].
|
|
| preferred label |
Down syndrome
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|
| prefLabel |
Down syndrome
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| subClassOf |
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