All terms in DOID

Label Id Description
curator inference from encyclopedia ECO_0007637 [A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject.]
obsolete neural tissue disease DOID_67
leukoencephalopathy with vanishing white matter 5 DOID_0070367 [A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.]
leukoencephalopathy with vanishing white matter DOID_0060868 [A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.]
obsolete lymphomyeloid tissue disease DOID_68
autosomal recessive chronic granulomatous disease 5 DOID_0070368 [A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25.]
nevoid basal cell carcinoma syndrome 1 DOID_0070365 [A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.]
Actinopterygii NCBITaxon_7898
Euteleostomi NCBITaxon_117571
muscle tissue disease DOID_66 [A muscular disease located in the muscle tissue.]
muscular disease DOID_0080000 [A musculoskeletal system disease that affects the muscles.]
nevoid basal cell carcinoma syndrome 2 DOID_0070366 [A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24.]
obsolete epithelial tissue disease DOID_64
Bardet-Biedl syndrome 21 DOID_0081010 [A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22.]
Bardet-Biedl syndrome DOID_1935 [A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.]
mitral valve disease DOID_61
Bardet-Biedl syndrome 22 DOID_0081011 [A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.]
aortic valve disease DOID_62 [A heart valve disease that is located_in the aortic valve.]
critical COVID-19 DOID_0081012 [A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy.]
susceptibility to cutaneous malignant melanoma 3 MIM_609048