Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete gastrointestinal mucormycosis	DOID_0050088	[A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.]
autoimmune lymphoproliferative syndrome type 4	DOID_0110117
progressive myoclonus epilepsy 1B	DOID_0111448	[An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12.]
Leber congenital amaurosis 16	DOID_0110118	[A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.]
progressive myoclonus epilepsy 6	DOID_0111449	[A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32.]
autoimmune lymphoproliferative syndrome type 2A	DOID_0110115	[An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene.]
progressive myoclonus epilepsy 3	DOID_0111446	[A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21.]
autoimmune lymphoproliferative syndrome type 2B	DOID_0110116	[An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.]
progressive myoclonus epilepsy 7	DOID_0111447	[A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1.]
atrial heart septal defect 8	DOID_0110113	[An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.]
progressive myoclonus epilepsy 4	DOID_0111444	[A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1.]
atrial heart septal defect 9	DOID_0110114	[An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11.]
progressive myoclonus epilepsy 10	DOID_0111445	[A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21.]
obsolete iodine deficiency	DOID_0050080
atrial heart septal defect 6	DOID_0110111	[An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32.]
optic atrophy 9	DOID_0111442	[An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2.]
Keshan disease	DOID_0050083	[A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.]
atrial heart septal defect 7	DOID_0110112	[An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.]
optic atrophy 2	DOID_0111443	[An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21.]
obsolete hepatic Torque teno virus infectious disease	DOID_0050082	[A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.]