Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
inducible_promoter	SO_0002051	[A promoter whereby activity is induced by the presence or absence of biotic or abiotic factors.]
bloody sputum	SYMP_0000447	[Bloody sputum is a sputum that consists of blood or bloody mucus discharged from the air passages caused by common forms of infection in the lungs and airways, such as acute bronchitis or pneumonia. Bloody sputum can also come from cancer of the lung.]
alpha thalassemia	DOID_1099	[Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.]
thalassemia	DOID_10241	[A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.]
dominant_negative_variant	SO_0002052	[A variant where the mutated gene product adversely affects the other (wild type) gene product.]
functional_variant	SO_0001536	[A sequence variant in which the function of a gene product is altered with respect to a reference.]
fetal erythroblastosis	DOID_1098
microcytic anemia	DOID_11252
gain_of_function_variant	SO_0002053	[A sequence variant whereby new or enhanced function is conferred on the gene product.]
obsolete hydrops fetalis	DOID_1097
loss_of_function_variant	SO_0002054	[A sequence variant whereby the gene product has diminished or abolished function.]
null_mutation	SO_0002055	[A variant whereby the gene product is not functional or the gene product is not produced.]
Joint dislocation	HP_0001373	[Displacement or malalignment of joints.]
intronic_splicing_silencer	SO_0002056	[An intronic splicing regulatory element that functions to recruit trans acting splicing factors suppress the transcription of the gene or genes they control.]
silencer	SO_0000625	[A regulatory region which upon binding of transcription factors, suppress the transcription of the gene or genes they control.]
exonic_splicing_silencer	SO_0002058	[An exonic splicing regulatory element that functions to recruit trans acting splicing factors suppress the transcription of the gene or genes they control.]
recombination_enhancer	SO_0002059	[A regulatory_region that promotes or induces the process of recombination.]
recombination_regulatory_region	SO_0001681	[A regulatory region that is involved in the control of the process of recombination.]
H3K27_acetylation_site	SO_0002049	[A kind of histone modification site, whereby the 27th residue (a lysine), from the start of the H3 histone protein is acetylated.]
histone_3_acetylation_site	SO_0001973	[A histone 3 modification where the modification is the acetylation of the residue.]