All terms in HP

Label Id Description
Increased iduronate sulfatase level HP_0003538 [An increased level of iduronate-2-sulfatase activity in the blood.]
Subsarcolemmal accumulations of abnormally shaped mitochondria HP_0003548 [An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.]
Shoulder girdle muscle weakness HP_0003547 [The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.]
Increased circulating pyruvate concentration HP_0003542 [The concentration of pyruvate in the blood circulation is above the upper limit of normal.]
Increased level of propylene glycol in blood HP_0410069 [An increase in the level of propylene glycol in the blood.]
L-asparaginate CHEBI_32650 [An optically active form of asparaginate having L-configuration.]
asparaginate CHEBI_32660 [An alpha-amino-acid anion that is the conjugate base of asparagine, arising from deprotonation of the carboxy group.]
Urinary glycosaminoglycan excretion HP_0003541 [Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.]
obsolete Increased level of L-glutamic acid in blood HP_0410068
L-asparaginium CHEBI_32651
asparaginium CHEBI_32661
Increased level of hippuric acid in blood HP_0410065 [An increase in the level of hippuric acid in the blood.]
Increased level of galactitol in red blood cells HP_0410064 [An increase in the level of galactitol in the red blood cells.]
Increased level of L-fucose in urine HP_0410067 [An increase in the level of L-fucose in the urine.]
primary amine CHEBI_32877 [A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.]
Increased level of hippuric acid in urine HP_0410066 [An increase in the level of hippuric acid in the urine.]
Increased level of galactitol in plasma HP_0410061 [An increase in the level of galactitol in the plasma.]
Decreased level of D-mannose in urine HP_0410060 [A decrease in the level of D-mannose in the urine.]
Increased level of galactonate in red blood cells HP_0410063 [An increase in the level of galactonate in the red blood cells.]
Increased level of galactitol in urine HP_0410062 [An increase in the level of galactitol in the urine.]