WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060749 familial temporal lobe epilepsy 6 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.

1 Ontology

Name
Disease Ontology

13 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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
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:2234 focal epilepsy An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
DOID:3328 temporal lobe epilepsy A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
DOID:0060749 familial temporal lobe epilepsy 6 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0060749
is_a DOID:3328 DOID:0060749
is_a DOID:0050739 DOID:0060749
is_a DOID:331 DOID:0060749
is_a DOID:630 DOID:0060749
is_a DOID:2234 DOID:0060749
is_a DOID:863 DOID:0060749
is_a DOID:7 DOID:0060749
is_a DOID:1826 DOID:0060749
is_a DOID:4 DOID:0060749
is_a DOID:0050177 DOID:0060749
is_a DOID:936 DOID:0060749

1 Synonyms

Name Type
ETL6 synonym