WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111302 generalized epilepsy with febrile seizures plus 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.

1 Ontology

Name
Disease Ontology

9 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:936 brain disease A central nervous system disease that is located_in the brain.
DOID:331 central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
DOID:1826 epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
DOID:1827 idiopathic generalized epilepsy An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
DOID:0060170 generalized epilepsy with febrile seizures plus An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
DOID:0111302 generalized epilepsy with febrile seizures plus 1 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060170 DOID:0111302
is_a DOID:936 DOID:0111302
is_a DOID:1827 DOID:0111302
is_a DOID:331 DOID:0111302
is_a DOID:4 DOID:0111302
is_a DOID:7 DOID:0111302
is_a DOID:863 DOID:0111302
is_a DOID:1826 DOID:0111302

5 Synonyms

Name Type
GEFS+1 synonym
GEFSP1 synonym
generalised epilepsy with febrile seizures plus 1 synonym
generalised epilepsy with febrile seizures plus type 1 synonym
generalized epilepsy with febrile seizures plus type 1 synonym