All terms in DOID

Label Id Description
microcephaly, seizures, and developmental delay DOID_0080457 [A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.]
developmental and epileptic encephalopathy 35 DOID_0080458 [A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.]
developmental and epileptic encephalopathy 12 DOID_0080459 [A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.]
right lower quadrant pelvic mass SYMP_0000789
developmental and epileptic encephalopathy 28 DOID_0080452 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.]
developmental and epileptic encephalopathy 25 DOID_0080453 [A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.]
periumbilic pelvic mass SYMP_0000787
developmental and epileptic encephalopathy 42 DOID_0080454 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.]
multiple sites pelvic mass SYMP_0000788
developmental and epileptic encephalopathy 52 DOID_0080455 [A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.]
obsolete lymphosarcoma involving spleen DOID_8860
pericardial mesothelioma DOID_6201
squamous papillomatosis DOID_7532
monocytic leukemia DOID_8527 [A myeloid leukemia that is characterized by a dominance of monocytes in the marrow.]
subareolar duct papillomatosis DOID_7533
obsolete mesothelioma malignant recurrent DOID_6202
anal gland adenocarcinoma DOID_7531 [An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland.]
obsolete recurrent malignant pericardial mesothelioma DOID_6200
pulmonary subvalvular stenosis DOID_8861
obsolete Mycosis fungoides involving lymph nodes of multiple sites DOID_8868