Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
early infantile epileptic encephalopathy 13	DOID_0080445	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.]
early infantile epileptic encephalopathy 66	DOID_0080446	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.]
early infantile epileptic encephalopathy 43	DOID_0080447	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.]
early infantile epileptic encephalopathy 48	DOID_0080448	[An early infantile epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.]
left upper quadrant pelvic lump	SYMP_0000778
pelvic lump	SYMP_0000773
early infantile epileptic encephalopathy 49	DOID_0080441	[An early infantile epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.]
right upper quadrant pelvic lump	SYMP_0000779
early infantile epileptic encephalopathy 41	DOID_0080442	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.]
epigastric pelvic lump	SYMP_0000776
early infantile epileptic encephalopathy 21	DOID_0080443	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.]
left lower quadrant pelvic lump	SYMP_0000777
early infantile epileptic encephalopathy 27	DOID_0080444	[An early infantile epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.]
early infantile epileptic encephalopathy 16	DOID_0080449	[An early infantile epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.]
breast myoepitheliosis	DOID_7521	[A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.]
obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes	DOID_8852
pediatric infratentorial ependymoblastoma	DOID_7522
childhood infratentorial neoplasm	DOID_4207	[A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.]
periductal breast myoepitheliosis	DOID_7520	[A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.]
salivary gland cancer	DOID_8850	[An oral cavity cancer that is located_in the salivary gland.]