All terms in DOID

Label Id Description
Pneumocystaceae NCBITaxon_44281
Pneumocystales NCBITaxon_37987
susceptibility to autoimmune disease 2 MIM_608391
Betacoronavirus pandemicum NCBITaxon_3418604
Sarbecovirus NCBITaxon_2509511
familial temporal lobe epilepsy 7 DOID_0060751 [A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.]
familial temporal lobe epilepsy 5 DOID_0060752 [A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.]
familial temporal lobe epilepsy 4 DOID_0060753 [A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.]
familial temporal lobe epilepsy 8 DOID_0060754 [A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.]
familial temporal lobe epilepsy 2 DOID_0060755 [A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.]
sclerosteosis 1 DOID_0060756 [A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.]
sclerosteosis DOID_0060251 [A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.]
sclerosteosis 2 DOID_0060757 [A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.]
immunodeficiency with hyper-IgM type 2 DOID_0060758 [A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.]
Cyprininae NCBITaxon_2743694
Cyprinidae NCBITaxon_7953
familial temporal lobe epilepsy 3 DOID_0060750 [A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.]
familial temporal lobe epilepsy 1 DOID_0060748 [A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.]
familial temporal lobe epilepsy 6 DOID_0060749 [A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.]
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID_0060740 [A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.]