Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
retinal pigment epithelial cell	CL_0002586	[An epithelial cell of the retinal pigmented epithelium.]
melanosome	GO_0042470	[A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.]
Abnormal circulating purine concentration	HP_0004352	[Any deviation from the normal concentration of a purine in the blood circulation.]
Abnormal circulating pyrimidine concentration	HP_0004353	[Any deviation from the normal concentration of a pyrimidine in the blood circulation.]
Subaortic ventricular septal bulge	HP_0031971	[A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.]
Presyncope	HP_0031972	[Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.]
Reduced blood urea nitrogen	HP_0031969	[An abnormally low concentration of urea nitrogen in the blood.]
Cloudy urine	HP_0031967	[The appearance of the urine having visible material in suspension, i.e., appearing cloudy.]
obsolete Abnormality of glycoprotein metabolism	HP_0004367
Elevated serum alanine aminotransferase	HP_0031964	[An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.]
Increased RBC distribution width	HP_0031965	[Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.]
Elevated serum anion gap	HP_0031962	[An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).]
Abnormal serum anion gap	HP_0031961	[Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.]
Decreased serum anion gap	HP_0031963	[An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).]
Arm dystonia	HP_0031960	[A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.]
Loss of ability to walk	HP_0006957
Rhombencephalosynapsis	HP_0031913	[Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.]
cardiac muscle tissue of interventricular septum	UBERON_0003383	[A portion of cardiac muscle tissue that is part of an interventricular septum [Automatically generated definition].]
Abnormal auditory evoked potentials	HP_0006958	[An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.]
Fluctuating	HP_0031914	[Varying irregularly over time in severity, amount, or amplitude.]