Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Dermatographic urticaria	HP_0011971	[An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).]
Hypoglycorrhachia	HP_0011972	[Abnormally low glucose concentration in the cerebrospinal fluid.]
Abnormal CSF glucose level	HP_0031884	[A deviation from normal concentration of glucose content in the cerebrospinal fluid.]
Unilateral radial aplasia	HP_0011908	[Missing radius bone on one side only associated with congenital failure of development.]
Flattened metacarpal heads	HP_0011909	[Abnormally flat shape of the heads of the metacarpal bones.]
Reduced beta/alpha synthesis ratio	HP_0011906	[A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.]
Reduced alpha/beta synthesis ratio	HP_0011907	[A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.]
Hypofibrinogenemia	HP_0011900	[Decreased concentration of fibrinogen in the blood.]
Abnormality of circulating fibrinogen	HP_0011898	[An abnormality of the level of activity of circulating fibrinogen.]
Dysfibrinogenemia	HP_0011901	[Qualitatively abnormal fibrinogen.]
Persistence of hemoglobin F	HP_0011904	[Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.]
Reduced hemoglobin A	HP_0011905	[Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.]
HbH hemoglobin	HP_0011903	[Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.]
negative regulation of cobalamin metabolic process	GO_0106122	[Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process.]
regulation of cobalamin metabolic process	GO_0106064	[Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.]
positive regulation of cobalamin metabolic process	GO_0106121	[Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process.]
Pleural empyema	HP_0011919	[Accumulation of pus in the pleural cavity.]
Short 5th toe	HP_0011917	[Underdevelopment (hypoplasia) of the fifth toe.]
Clinodactyly of the 4th toe	HP_0011918	[Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).]
Shortening of all phalanges of fingers	HP_0011910	[Abnormal reduction in length affecting all phalanges.]