All terms in HP

Label Id Description
Gingival recession HP_0030816 [The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.]
Ethylmalonic aciduria HP_0003219 [The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.]
Abnormal jugular venous pressure HP_0030847 [An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.]
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material HP_0003226 [An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.]
Undetectable pattern electroretinogram HP_0030844 [Absent response to a pattern electroretinogram (PERG).]
Heliotrope rash of eyelid HP_0030845 [Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.]
Heliotrope rash HP_0040324 [In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.]
Hypernatremia HP_0003228 [An abnormally increased sodium concentration in the blood.]
nuclear lumen GO_0031981 [The volume enclosed by the nuclear inner membrane.]
intracellular organelle lumen GO_0070013 [An organelle lumen that is part of an intracellular organelle.]
Choking episodes HP_0030842 [Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.]
Aphalangy of the hands HP_0005886 [Absence of a digit or of one or more phalanges of a finger.]
Decreased circulating methylcobalamin concentration HP_0003223 [The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.]
Cardiac amyloidosis HP_0030843 [Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.]
Ankle pain HP_0030840 [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.]
Reduced coagulation factor V activity HP_0003225 [Decreased activity of coagulation factor V.]
Abnormal coagulation factor V activity HP_0031899 [Any deviation from the activity of coagulation factor V.]
membrane-bounded organelle GO_0043227 [Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.]
Toe pain HP_0030841 [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.]
Absent ossification of cervical vertebral bodies HP_0005885 [A lack of bone mineralization of one or more body of cervical vertebra.]