All terms in HP

Label Id Description
Partial anomalous pulmonary venous return HP_0010773 [A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.]
Quadriceps aplasia HP_0009788 [Absence of the quadriceps muscle.]
Elevated urinary S-sulfocysteine level HP_0034744 [Level of S-sulfocysteine high in urine above the upper limit of normal.]
Perianal abscess HP_0009789 [The presence of an abscess located around the anus.]
Unusual protozoan infection HP_0020104 [An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.]
Severe toxoplasmosis HP_0020105 [Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).]
monohydroxyproline CHEBI_86499 [A hydroxy-amino acid in which the amino acid specified is proline. A "closed" class.]
hydroxyproline CHEBI_24741 [A proline derivative that is proline substituted by at least one hydroxy group.]
Severe giardiasis HP_0020106 [An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.]
Unusual helminthic infection HP_0020107 [An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).]
Unusual parasitic infection HP_0020108 [An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.]
Glomerular basement membrane duplication HP_0020109 [Glomerular basement membrane duplication (GBM-DP) can be seen with Periodic acid-Schiff and silver stains. This appearance results from the presence of subendothelial deposits and the so-called mesangial interposition whereby mesangial cells, infiltrating mononuclear cells, or even portions of endothelial cells interpose themselves between the endothelium and basement membrane, with new, inner GBM-like material being laid down. This produces a double contour or tram-track appearance on light or electron microscopy. This finding often reflects splitting of the lamina densa and is associated with disease processes such as membranoproliferative glomerulonephritis, transplant glomerulopathy, and diabetic nephropathy.]
Elevated CSF argininosuccinic acid concentration HP_0034734 [Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.]
Abnormality of the Leydig cells HP_0010789
Elevated CSF aspartylglucosamine concentration HP_0034735 [Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal.]
Elevated circulating alpha-oxoadipic acid concentration HP_0034736 [Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.]
Genital neoplasm HP_0010787 [A tumor (abnormal growth of tissue) of the genital system.]
Abnormal erythrocyte metabolite concentration HP_0034737 [A deviation from the normal range of a metabolite in red blood cells.]
Progressive peripheral neuropathy HP_0007133
Reduced erythrocyte glutathione concentration HP_0034738 [Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.]