BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Dravet syndrome
Synonyms

early infantile epileptic encephalopathy 6

Definitions

An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.

ID

http://purl.obolibrary.org/obo/DOID_0080422

database_cross_reference

OMIM:607208

GARD:10430

ORDO:33069

has exact synonym

early infantile epileptic encephalopathy 6

has_alternative_id

DOID:0060171

has_obo_namespace

disease_ontology

id

DOID:0080422

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

label

Dravet syndrome

notation

DOID:0080422

prefLabel

Dravet syndrome

textual definition

An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050709

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080422 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0080422 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080422 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0080422 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0080422 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0080422 FNS-H SAME_URI
http://www.orpha.net/ORDO/Orphanet_33069 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C116573 BERO LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClass951a793e_3b05_4c5e_8884_cccbdc1898b0 WWECA LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073682 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10307 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0100135 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0100135 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0100135 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_0080422 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080422 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0080422 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080422 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080422 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080422 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/607208 OMIM LOOM
http://purl.bioontology.org/ontology/ICD10CM/G40.83 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116573 NCIT LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Dravet_syndrome NRO LOOM
http://nanbyodata.jp/ontology/NANDO_1200587 NANDO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Dravet_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Dravet_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Dravet_Syndrome EPISEM LOOM

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