Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
idiopathic generalized epilepsy 11	DOID_0111312	[An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1.]
idiopathic generalized epilepsy 12	DOID_0111313	[An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2.]
familial febrile seizures 2	DOID_0111310	[A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3.]
familial febrile seizures	DOID_0111297	[A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.]
familial febrile seizures 7	DOID_0111311	[A familial febrile seizures that has_material_basis_in heterozygous mutation.]
idiopathic generalized epilepsy 3	DOID_0111318	[An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33.]
idiopathic generalized epilepsy 4	DOID_0111319	[An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26.]
secretory cell	CL_0000151
carbohydrate secreting cell	CL_0000447
familial febrile seizures 4	DOID_0111305	[A familial febrile seizures that has_material_basis_in heterozygous mutation ADGRV1 on chromosome 5q14.3.]
familial febrile seizures 5	DOID_0111306	[A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24.]
familial febrile seizures 9	DOID_0111303	[A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23.]
familial febrile seizures 10	DOID_0111304	[A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33.]
generalized epilepsy with febrile seizures plus 9	DOID_0111301	[A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.]
generalized epilepsy with febrile seizures plus	DOID_0060170	[An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.]
generalized epilepsy with febrile seizures plus 1	DOID_0111302	[A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.]
generalized epilepsy with febrile seizures plus 6	DOID_0111300	[A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21.]
organic hydride	CHEBI_37175
Schaalia odontolytica	NCBITaxon_1660
familial febrile seizures 6	DOID_0111309	[A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2.]