All terms in DOID

Label Id Description
polycythemia vera DOID_8997 [A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.]
vulvar eccrine adenocarcinoma DOID_6339 [A vulva adenocarcinoma that has_material_basis_in eccrine glands.]
developmental and epileptic encephalopathy 94 DOID_0081325 [A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.]
Meckel's diverticulum cancer DOID_10152 [An ileum cancer originating from Meckel's diverticulum.]
ileum cancer DOID_10153 [A small intestine cancer that is located_in the ileum.]
oxoglutarate dehydrogenase deficiency DOID_0081326 [An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.]
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID_0081327 [A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24.]
hemopericardium DOID_11482 [A pericardial effusion that results from blood in the pericardial sac.]
pericardial effusion DOID_118 [A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.]
obsolete lower limb cancer DOID_10150 [A malignant neoplasm that is manifested in the lower limb.]
familial hyperinsulinemic hypoglycemia 8 DOID_0081328 [A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23.]
malignant neoplasm of short bones of lower limb DOID_10151 [A bone cancer that is located in the short bones of lower limbs.]
constrictive pericarditis DOID_11481
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A DOID_0081321 [A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.]
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B DOID_0081322 [A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.]
breast implant illness DOID_0081323 [A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression.]
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID_0081324 [An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32.]
Lyssavirus rabies NCBITaxon_11292
osteonecrosis DOID_10159 [An ischemic bone disease that results_in necrosis located_in bone.]
obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot DOID_11489