All terms in DOID

Label Id Description
small intestinal L-cell glucagon-like peptide producing tumor DOID_7506
obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck DOID_8836
generalized pelvic swelling SYMP_0000791
developmental and epileptic encephalopathy 61 DOID_0080434 [A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.]
Elliovirales NCBITaxon_3151837
developmental and epileptic encephalopathy 37 DOID_0080435 [A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.]
developmental and epileptic encephalopathy 4 DOID_0080436 [A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.]
Nairoviridae NCBITaxon_1980415
developmental and epileptic encephalopathy 31A DOID_0080437 [A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.]
developmental and epileptic encephalopathy 65 DOID_0080430 [A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.]
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.]
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.]
dioxin OMIT_0005411 [An endocrine disruptor that is dioxin, are mainly byproducts of industrial practices. They are produced through a variety of incineration processes, including improper municipal waste incineration and burning of trash, and can be released into the air during natural processes, such as forest fires and volcanoes.]
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