All terms in DOID

Label Id Description
developmental and epileptic encephalopathy 19 DOID_0080431 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.]
Ellioviricetes NCBITaxon_2497576
developmental and epileptic encephalopathy 60 DOID_0080432 [A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.]
developmental and epileptic encephalopathy 51 DOID_0080433 [A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.]
developmental and epileptic encephalopathy 5 DOID_0080438 [A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.]
developmental and epileptic encephalopathy 14 DOID_0080439 [A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.]
Clostridiaceae NCBITaxon_31979
breast intraductal papillomatosis DOID_7511 [A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.]
Wolffian adnexal neoplasm DOID_7514
lumbar spinal canal and spinal cord meningioma DOID_7515
obsolete tuberculous erythema nodosum DOID_8844
obsolete localized intraductal papillomatosis DOID_7512
inhibited female orgasm DOID_7518
sublingual gland cancer DOID_8849 [A salivary gland cancer that is located_in the sublingual gland.]
endocervical carcinoma DOID_7519 [A cervix carcinoma that is located_in the endocervix.]
childhood central nervous system mixed germ cell tumor DOID_7516 [A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.]
central nervous system childhood germ cell tumor DOID_6052
obsolete central nervous system mixed germ cell tumor DOID_7517
obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites DOID_8847
orofacial cleft 8 DOID_0080401 [An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.]