All terms in HP

Label Id Description
Reduced factor X activity HP_0008321 [Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).]
Impaired collagen-induced platelet aggregation HP_0008320 [Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.]
Elevated urinary dopamine level HP_0011979 [The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.]
Cerebral amyloid angiopathy HP_0011970 [Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.]
Paroxysmal lethargy HP_0011973 [Repeated episodes of sudden-onset and transient lethargy.]
Myelofibrosis HP_0011974 [Replacement of bone marrow by fibrous tissue.]
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 concentration HP_0031884 [A deviation from normal concentration of glucose content in the cerebrospinal fluid.]
normal sensitivity toward PATO_0045049 [A sensitivity toward an external stimulus which is relatively normal or average]
N,N-dimethylglycine CHEBI_17724 [An N-methylglycine that is glycine carrying two N-methyl substituents.]
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.]
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.]