Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Hodgkin's lymphoma	DOID_8567	[A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.]
left lower quadrant pelvic swelling	SYMP_0000793
obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck	DOID_8837
multiple sites pelvic swelling	SYMP_0000790
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
early infantile epileptic encephalopathy 61	DOID_0080434	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.]
early infantile epileptic encephalopathy 37	DOID_0080435	[An early infantile 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.]
early infantile epileptic encephalopathy 4	DOID_0080436	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.]
Nairoviridae	NCBITaxon_1980415
early infantile epileptic encephalopathy 31	DOID_0080437	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.]
pustular psoriasis susceptibility 15	OMIM_616106
early infantile epileptic encephalopathy 65	DOID_0080430	[An early infantile epileptic encephalopathy characterized by various types of intractable seizures starting by 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.]
early infantile epileptic encephalopathy 19	DOID_0080431	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.]
Ellioviricetes	NCBITaxon_2497576
early infantile epileptic encephalopathy 60	DOID_0080432	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.]
early infantile epileptic encephalopathy 51	DOID_0080433	[An early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.]
early infantile epileptic encephalopathy 5	DOID_0080438	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.]
early infantile epileptic encephalopathy 14	DOID_0080439	[An early infantile 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.]