All terms in HP
| Label | Id | Description |
|---|---|---|
| Ectopic ossification in muscle tissue | HP_0011987 | [Formation of abnormal bony tissue within muscle tissue.] |
| Elevated creatine kinase after exercise | HP_0008331 | |
| Reduced von Willebrand factor activity | HP_0008330 | [Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.] |
| Cholesterol gallstones | HP_0011980 | [Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.] |
| Pigment gallstones | HP_0011981 | [Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.] |
| Atretic gallbladder | HP_0011984 | [Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.] |
| Acholic stools | HP_0011985 | [Clay colored stools lacking bile pigment.] |
| Black pigment gallstones | HP_0011982 | [A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.] |
| Brown pigment gallstones | HP_0011983 | [A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.] |
| Decreased circulating IgG2 level | HP_0008348 | [A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.] |
| Decreased activity of mitochondrial complex IV | HP_0008347 | [A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.] |
| Paranoia | HP_0011999 | [A persecutory delusion of supposed hostility of others.] |
| Increased red cell sickling tendency | HP_0008346 | |
| Hypoplasia of the iris dilator muscle | HP_0008345 | [Underdevelopment of the dilatator pupillae.] |
| Postprandial hyperlactemia | HP_0011997 | [Abnormally increased level of blood lactate following a meal.] |
| Increased serum lactate | HP_0002151 | [Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).] |
| Elevated plasma branched chain amino acids | HP_0008344 | [An increased concentration of a branched chain amino acid in the blood.] |
| Postprandial hyperglycemia | HP_0011998 | [An increased concentration of glucose in the blood following a meal.] |
| Delta(5),Delta(7)-sterol | CHEBI_138131 | [Any sterol containing two double bonds between positions 5-6 and 7-8.] |
| Atrial septal dilatation | HP_0011995 | [A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.] |