All terms in DOID

Label Id Description
developmental and epileptic encephalopathy 18 DOID_0080413 [A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.]
developmental and epileptic encephalopathy 15 DOID_0080414 [A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.]
developmental and epileptic encephalopathy 23 DOID_0080415 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.]
Pseudocowpox virus NCBITaxon_129726
familial adenomatous polyposis 2 DOID_0080410 [A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.]
familial adenomatous polyposis 3 DOID_0080411 [A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.]
developmental and epileptic encephalopathy 32 DOID_0080416 [A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.]
developmental and epileptic encephalopathy 38 DOID_0080417 [A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.]
developmental and epileptic encephalopathy 54 DOID_0080418 [A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.]
developmental and epileptic encephalopathy 50 DOID_0080419 [A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.]
obsolete ulcerative ileocolitis DOID_8820
obsolete systemic inflammatory response syndrome DOID_8828
colon carcinoma in situ DOID_8826 [An intestine carcinoma in situ that is located_in the colon.]
intestine carcinoma in situ DOID_9024 [An in situ carcinoma that is located_in the intestine.]
obsolete Hodgkin's paragranuloma involving spleen DOID_8825
Klebsiella/Raoultella group NCBITaxon_2890311
Enterobacteriaceae NCBITaxon_543
obsolete allergic gastroenteritis and colitis DOID_8807
Capillariidae NCBITaxon_455381
Trichinellida NCBITaxon_6329