Link to this page
EpilepsyOntology
Last uploaded:
November 8, 2021
Jump to:
| Preferred Name | Down syndrome | |
| Synonyms |
trisomy 21 syndrome Downs syndrome Down's syndrome Complete trisomy 21 syndrome Down's syndrome - trisomy 21 G Trisomy |
|
| 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].
|
|
| database_cross_reference |
UMLS_CUI:C0013080 CSP2005:1254-8068 MTHICD9_2006:758.0 OMIM:190685 MESH:D004314 ICD10CM:Q90 NCI2004_11_17:C2993 SNOMEDCT_US_2018_03_01:41040004 ICD10CM:Q90.9 ICD9CM:758.0 GARD:10247 NCI:C2993 ORDO:870
|
|
| fromESSO |
true
|
|
| fromILAE |
true
|
|
| has exact synonym |
trisomy 21 syndrome Downs syndrome Down's syndrome Complete trisomy 21 syndrome Down's syndrome - trisomy 21 G Trisomy
|
|
| has_obo_namespace |
disease_ontology
|
|
| hasDefinition |
Down syndrome is a common chromosomal disorder with well-recognized dysmorphic features, epilepsy occurs in approximately 10% of individuals and age of seizure onset is bimodal with 40% having seizures before 1 year of age (commonly epileptic spasms) and 40% having seizures from the third decade of life. All major seizure types have been described in children with Down syndrome including focal seizures, epileptic spasms, myoclonic and generalized tonic-clonic seizures. Phenotypes seen may also include reflex (startle-induced) seizures. Co-existing acquired structural brain abnormalities may occur, as a consequence of congenital cardiac disease.
|
|
| id |
DOID:14250
|
|
| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Down syndrome
|
|
| notation |
DOID:14250
|
|
| prefLabel |
Down syndrome
|
|
| 文本定义 |
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.
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping