Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
lupus erythematosus	DOID_8857	[An autoimmune hypersensitivity disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs, and has_material_basis_in autoimmune disorder.]
generalized pelvic lump	SYMP_0000774
obsolete metastatic neoplasm to the ciliary body	DOID_7526
right lower quadrant pelvic lump	SYMP_0000775
pelvic mass	SYMP_0000772
pelvic symptom	SYMP_0000770
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes	DOID_8854
early infantile epileptic encephalopathy 3	DOID_0080440	[An early infantile epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.]
pelvic swelling	SYMP_0000771
acute gonococcal endometritis	DOID_7527	[An acute endometritis that is caused by gonorrhea.]
acute endometritis	DOID_7528	[An endometritis that is characterized by onset within the past 1 - 3 days.]
early infantile epileptic encephalopathy 46	DOID_0080456	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.]
microcephaly, seizures, and developmental delay	DOID_0080457	[An early infantile 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.]
early infantile epileptic encephalopathy 35	DOID_0080458	[An early infantile 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.]
early infantile epileptic encephalopathy 12	DOID_0080459	[An early infantile epileptic encephalopathy 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
early infantile epileptic encephalopathy 28	DOID_0080452	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.]
early infantile epileptic encephalopathy 25	DOID_0080453	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.]
periumbilic pelvic mass	SYMP_0000787
early infantile epileptic encephalopathy 42	DOID_0080454	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.]