Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pyrrolysyl_tRNA	SO_0000766	[A tRNA sequence that has a pyrrolysine anticodon, and a 3' pyrrolysine binding region.]
obsolete demyelinating encephalopathy	DOID_642
obsolete CNS demyelinating autoimmune disease	DOID_641
QTL	SO_0000771	[A quantitative trait locus (QTL) is a polymorphic locus which contains alleles that differentially affect the expression of a continuously distributed phenotypic trait. Usually it is a marker described by statistical association to quantitative variation in the particular phenotypic trait that is thought to be controlled by the cumulative action of alleles at multiple loci.]
encephalomyelitis	DOID_640
tmRNA_acceptor_piece	SO_0000770	[The acceptor region of a two-piece tmRNA that when mature is charged at its 3' end with alanine. The tmRNA gene undergoes circular permutation in some groups of bacteria; processing of the transcripts from such a gene leaves the mature tmRNA in two pieces, base-paired together.]
viral encephalitis	DOID_646	[An encephalitis that involves inflammation of the brain caused by viral infection.]
obsolete leukoencephalopathy	DOID_644
progressive multifocal leukoencephalopathy	DOID_643	[A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.]
penams	CHEBI_35992	[Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified.]
Exserohilum	NCBITaxon_91493
neuronal ceroid lipofuscinosis 7	DOID_0110722	[A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.]
double_stranded_cDNA	SO_0000758
cDNA	SO_0000756	[DNA synthesized by reverse transcriptase using RNA as a template.]
neuronal ceroid lipofuscinosis 8	DOID_0110723	[A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.]
obsolete demyelinating disease of central nervous system	DOID_638
single_stranded_cDNA	SO_0000757
neuronal ceroid lipofuscinosis 4B	DOID_0110720	[A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.]
obsolete metabolic brain disease	DOID_637
neuronal ceroid lipofuscinosis 1	DOID_0110721	[A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.]