All terms in DOID

Label Id Description
pelvic lump SYMP_0000773
developmental and epileptic encephalopathy 49 DOID_0080441 [A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.]
right upper quadrant pelvic lump SYMP_0000779
developmental and epileptic encephalopathy 41 DOID_0080442 [A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.]
epigastric pelvic lump SYMP_0000776
developmental and epileptic encephalopathy 21 DOID_0080443 [A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.]
left lower quadrant pelvic lump SYMP_0000777
developmental and epileptic encephalopathy 27 DOID_0080444 [A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.]
developmental and epileptic encephalopathy 16 DOID_0080449 [A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.]
breast myoepitheliosis DOID_7521 [A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.]
obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes DOID_8852
childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered DOID_7522 [A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.]
childhood embryonal tumor with multilayered rosettes, C19MC-altered DOID_7841 [An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.]
childhood infratentorial neoplasm DOID_4207 [A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.]
periductal breast myoepitheliosis DOID_7520 [A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.]
salivary gland cancer DOID_8850 [An oral cavity cancer that is located_in the salivary gland.]
lupus erythematosus DOID_8857 [An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.]
autoimmune disease of musculoskeletal system DOID_0060032 [An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.]
generalized pelvic lump SYMP_0000774
obsolete metastatic neoplasm to the ciliary body DOID_7526