All terms in DOID

Label Id Description
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 the KCTD7 gene on chromosome 7q11.21.]
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 the KCNC1 gene on chromosome 11p15.1.]
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 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 the SCARB2 gene on chromosome 4q21.1.]
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.]
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 the PRDM8 gene on chromosome 4q21.21.]
obsolete iodine deficiency DOID_0050080
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 the ACO2 gene on chromosome 22q13.2.]
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.]
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.]
Mycobacteriaceae NCBITaxon_1762
autoimmune lymphoproliferative syndrome type 3 DOID_0110119 [An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.]
Mycobacterium leprae NCBITaxon_1769
Fonsecaea pedrosoi NCBITaxon_40355
Bartter disease type 1 DOID_0110142 [A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.]