Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
lymphangitis	SYMP_0000083
DMv1_motif	SO_0001165	[A promoter motif with consensus sequence CARCCCT.]
DPE1_motif	SO_0001164	[A promoter motif with consensus sequence CGGACGT.]
obsolete Enterobacter aerogenes intestinal infectious disease	DOID_10957	[An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.]
INR1_motif	SO_0001163	[A promoter motif with consensus sequence TCATTCG.]
MTE	SO_0001162	[A sequence element characteristic of some RNA polymerase II promoters, usually located between +20 and +30 relative to the TSS. Consensus sequence is CSARCSSAACGS. Tends to co-occur with INR motif (SO:0000014). Tends to not occur with DPE motif (SO:0000015) or DMv5 (SO:0001159).]
core_promoter_element	SO_0001660
strongyloidiasis	DOID_10955	[A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.]
parasitic helminthiasis infectious disease	DOID_883	[A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.]
Strongyloides stercoralis	NCBITaxon_6248
DMv2_motif	SO_0001161	[A sequence element characteristic of some RNA polymerase II promoters, usually located between -60 and -45 relative to the TSS. Consensus sequence is MKSYGGCARCGSYSS. Tends to co-occur with DMv3 (SO:0001160). Tends to not occur with DPE motif (SO:0000015) or MTE (SO:0001162).]
DMv3_motif	SO_0001160	[A sequence element characteristic of some RNA polymerase II promoters, usually located between -30 and +15 relative to the TSS. Consensus sequence is KNNCAKCNCTRNY. Tends to co-occur with DMv2 (SO:0001161). Tends to not occur with DPE motif (SO:0000015) or MTE (0001162).]
adenosine deaminase deficiency	DOID_5810	[A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.]
severe combined immunodeficiency	DOID_627	[A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.]
MHC class II deficiency	DOID_5812	[A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.]
meningoencephalitis	SYMP_0000089	[Meningoencephalitis is a nervous system symptom characterized as an inflammation of the brain and meninges.]
lymphopenia	SYMP_0000086
purine nucleoside phosphorylase deficiency	DOID_5813	[A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.]
combined T cell and B cell immunodeficiency	DOID_628	[A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity.]
massive hepatic necrosis	SYMP_0000087