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Human Disease Ontology
Last uploaded:
March 3, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_0080422
http://purl.obolibrary.org/obo/DOID_0080422
|
|---|---|
| Preferred Name | Dravet syndrome |
| Definitions |
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
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| Synonyms |
DEE6
developmental and epileptic encephalopathy 6A
early infantile epileptic encephalopathy 6
developmental and epileptic encephalopathy 6
DEE6A
severe myoclonic epilepsy of infancy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. |
|---|---|
| label | Dravet syndrome
|
| prefLabel | Dravet syndrome
|
| database_cross_reference |
GARD:10430
MIM:607208
ORDO:33069
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| notation | DOID:0080422
|
| in_subset | |
| id | DOID:0080422
|
| has material basis in | |
| has_obo_namespace | disease_ontology
|
| subClassOf | |
| has_alternative_id | DOID:0060171
|
| type | |
| has exact synonym |
DEE6
developmental and epileptic encephalopathy 6A
early infantile epileptic encephalopathy 6
developmental and epileptic encephalopathy 6
DEE6A
severe myoclonic epilepsy of infancy
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Notes
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| Subject | Author | Type | Class | Created |
|---|---|---|---|---|
| Suggest synonym removal | ceyockey | Comment | http://purl.obolibrary.org/obo/DOID_10286 | 2012-11-02 |
| test | zephiruswt | Comment | http://purl.obolibrary.org/obo/DOID_4 | 2009-12-01 |
| Symptoms | linairis | Comment | http://purl.obolibrary.org/obo/DOID_3083 | 2009-08-07 |
| Symptoms | linairis | Comment | http://purl.obolibrary.org/obo/DOID_3083 | 2009-08-07 |
| Wikipedia page for melanoma | mmontegut | Comment | http://purl.obolibrary.org/obo/DOID_1909 | 2008-07-21 |
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