WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111324 juvenile absence epilepsy 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.

1 Ontology

Name
Disease Ontology

11 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:0050701 electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
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:0070309 absence epilepsy An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.
DOID:0050705 adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood.
DOID:0060172 juvenile absence epilepsy An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
DOID:0111324 juvenile absence epilepsy 1 A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060172 DOID:0111324
is_a DOID:936 DOID:0111324
is_a DOID:0050705 DOID:0111324
is_a DOID:0050701 DOID:0111324
is_a DOID:331 DOID:0111324
is_a DOID:4 DOID:0111324
is_a DOID:7 DOID:0111324
is_a DOID:0070309 DOID:0111324
is_a DOID:863 DOID:0111324
is_a DOID:1826 DOID:0111324

2 Synonyms

Name Type
EJA1 synonym
JAE1 synonym