All terms in HP

Label Id Description
Gastric arteriovenous malformation HP_0031341 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.]
tooth surface structure UBERON_8600148 [A surface structure that is part of a calcareous tooth.]
Elevated osmolality gap HP_6000820 [Plasma osmolality is determined mainly by Sodium, its counter ions, and uncharged species such as Glucose and Urea. Knowledge of the plasma concentration of these species allows calculation of the plasma osmolality quite accurately. If the difference between the measured osmolality (MO) and calculated osmolality (CO) is known as the osmolar gap (OG) is large (greater than 15) osmolar gap can help identify the presence in plasma of substances such as ethanol, methanol, isopropanol, ethylene glycol, propylene glycol..]
Elevated CSF tetrahydrobiopterin level HP_6000822 [Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.]
Elevated circulating bile alcohol concentration HP_6000821 [The concentration of bile alcohols in the blood circulation is above the upper limit of normal.]
Cerebrospinal fluid eosinophilia HP_6000824 [Presence of at least 10% eosinophils in the total cerebrospinal fluid (CSF) leukocyte count.]
Elevated CSF 5-hydroxyindoleacetic acid concentration HP_6000823 [The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.]
Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts HP_6000826 [Concentration or activity of procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1; also known as Lysyl hydroxylase; EC 1.14.11.4) as measured in cultured fibroblasts is below the limits of normal. PLOD1 catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences, by the hydroxylation of lysine residues in X-lys-gly sequences.]
Reduced C27 3beta-HSD activity in cultured fibroblasts HP_6000825 [Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal.]
Reduced tissue peptidase D activity HP_6000828 [Concentration or activity of Peptidase D (EC 3.4.13.9; also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase) below the lower limit of normal. The activity of this enzyme can be measured in erythrocytes, leukocytes, or fibroblasts.]
Diminished tissue fumarylacetoacetate hydrolase activity HP_6000827 [Concentration or activity of fumarylacetoacetate hydrolase (FAH; EC 3.7.1.2) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.]
Reduced tissue glycine cleavage enzyme activity HP_6000829 [Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.]
Small intestinal perforation HP_0031370 [A hole (perforation) in the wall of the small intestine.]
Intestinal perforation HP_0031368 [A hole (perforation) in the wall of the intestine.]
Abnormal cell proliferation HP_0031377 [Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.]
Refractory HP_0031375 [Applies to a sign or symptom that is difficult to treat or cure.]
Stiff tongue HP_0031373 [Increased rigidity and reduced mobility of the tongue.]
Ankle weakness HP_0031374 [Reduced strength of the muscles that lift or otherwise move the foot at the ankle.]
Rectal perforation HP_0031371 [A hole (perforation) in the wall of the rectum.]
Cold paresis HP_0031372 [Increased muscle weakness upon exposure to cold temperatures.]