All terms in DOID

Label Id Description
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 DOID_0111385 [An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.]
amelogenesis imperfecta type 3A DOID_0110055 [An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 DOID_0111386 [An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.]
alcoholic hepatitis DOID_12351
obsolete simple type schizophrenia chronic state DOID_13682
amelogenesis imperfecta type 1B DOID_0110052 [An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.]
autosomal dominant keratitis DOID_0111383 [A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.]
obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis DOID_11020
obsolete simple type schizophrenia in remission DOID_13681
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 DOID_0111384 [An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.]
amelogenesis imperfecta type 4 DOID_0110053 [An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene.]
obsolete simple type schizophrenia subchronic state with acute exacerbation DOID_13680
IVIC syndrome DOID_0111381 [A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2.]
Alzheimer's disease 18 DOID_0110050 [An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.]
ischiocoxopodopatellar syndrome DOID_0111382 [A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2.]
Alzheimer's disease 19 DOID_0110051 [An Alzheimer's disease that is characterized by associated variants of the gene PLD3.]
solitary median maxillary central incisor DOID_0111380 [A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3.]
pinguecula DOID_11029
endocrine exophthalmos DOID_12359
obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis DOID_11027