All terms in DOID

Label Id Description
epigastric pelvic mass SYMP_0000784
developmental and epileptic encephalopathy 29 DOID_0080451 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.]
malignant mediastinum hemangiopericytoma DOID_6209 [A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum.]
periumbilic pelvic lump SYMP_0000781
right upper quadrant pelvic mass SYMP_0000782
breast ductal adenoma DOID_7538 [A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component.]
pregnancy adenoma DOID_7539 [A breast adenoma that occurs during pregnancy.]
mediastinal osteogenic sarcoma DOID_6208
mediastinum sarcoma DOID_4050 [A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.]
neuromyelitis optica DOID_8869 [A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).]
multiple sites pelvic lump SYMP_0000780
obsolete early infantile epileptic encephalopathy 39 DOID_0080423
susceptibility to restless legs syndrome 6 MIM_611185
developmental and epileptic encephalopathy 44 DOID_0080424 [A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.]
developmental and epileptic encephalopathy 47 DOID_0080425 [A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.]
developmental and epileptic encephalopathy 63 DOID_0080426 [A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.]
developmental and epileptic encephalopathy 62 DOID_0080420 [A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.]
developmental and epileptic encephalopathy 11 DOID_0080421 [A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.]
Dravet syndrome DOID_0080422 [A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.]
developmental and epileptic encephalopathy 40 DOID_0080427 [A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.]