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BioAssay Ontology
Last uploaded:
March 20, 2025
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Id | http://purl.obolibrary.org/obo/DOID_0080422
http://purl.obolibrary.org/obo/DOID_0080422
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Preferred Name | Dravet syndrome |
Definitions |
An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
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Synonyms |
early infantile epileptic encephalopathy 6
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
label | Dravet syndrome
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prefLabel | Dravet syndrome
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has cross-reference |
OMIM:607208
GARD:10430
ORDO:33069
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notation | DOID:0080422
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in_subset | |
id | DOID:0080422
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has_obo_namespace | disease_ontology
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textual definition | An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
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subClassOf | |
imported from | |
has_alternative_id | DOID:0060171
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type | |
has exact synonym | early infantile epileptic encephalopathy 6
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Delete | Subject | Author | Type | Created |
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Notes
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Subject | Author | Type | Class | Created |
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New Relationship Proposal: testing the system | graybeal | New Relationship Proposal | http://www.bioassayontology.org/bao#BAO_0003112 | 2019-08-26 |
New Class Proposal: Test | mdorf | New Class Proposal | http://www.bioassayontology.org/bao#BAO_0002094 | 2019-03-18 |
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