All terms in DOID

Label Id Description
exudative vitreoretinopathy 4 DOID_0111411 [An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2.]
exudative vitreoretinopathy 1 DOID_0111412 [An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.]
superior vena cava leiomyosarcoma DOID_7390 [A leiomyosarcoma that is located_in the superior vena cava.]
obsolete superior vena cava malignant neoplasm DOID_7391
exudative vitreoretinopathy 6 DOID_0111410 [An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2.]
obsolete localized resectable adult primary liver cancer DOID_7385
obsolete paranasal sinus Schneiderian papilloma DOID_6055
obsolete localized resectable adult primary hepatoma DOID_7384
frontal sinus Schneiderian papilloma DOID_6054
pulmonary artery leiomyosarcoma DOID_7389 [A leiomyosarcoma that is located_in the pulmonary artery.]
familial chylomicronemia due to inhibition of lipoprotein lipase activity DOID_0111419 [A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase.]
familial chylomicronemia syndrome DOID_0111417 [A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.]
nasal vestibule papilloma DOID_6059
pulmonary vein leiomyosarcoma DOID_7388 [A leiomyosarcoma that is located_in the pulmonary vein.]
familial apolipoprotein C-II deficiency DOID_0111418 [A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.]
Orthoflavivirus kyasanurense NCBITaxon_3048170
Jalili syndrome DOID_0111404 [A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.]
obsolete postpartum benign essential hypertension DOID_13702
Fraser syndrome 1 DOID_0111405 [A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21.]
mucopolysaccharidosis type IIID DOID_0111402 [A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.]