Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
left lower quadrant pelvic mass	SYMP_0000783
early infantile epileptic encephalopathy 17	DOID_0080450	[An early infantile epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.]
thyroid adenoma	DOID_2891	[An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.]
epigastric pelvic mass	SYMP_0000784
early infantile epileptic encephalopathy 29	DOID_0080451	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AARS 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.]
mediastinal osteogenic sarcoma	DOID_6208
mediastinum sarcoma	DOID_4050	[A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.]
pregnancy adenoma	DOID_7539	[A breast adenoma that occurs during pregnancy.]
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
early infantile epileptic encephalopathy 44	DOID_0080424	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.]
early infantile epileptic encephalopathy 47	DOID_0080425	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.]
early infantile epileptic encephalopathy 63	DOID_0080426	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.]
early infantile epileptic encephalopathy 62	DOID_0080420	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.]
early infantile epileptic encephalopathy 11	DOID_0080421	[An early infantile 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.]