All terms in HP

Label Id Description
Increased level of ribitol in urine HP_0410070 [An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.]
L-aspartic acid CHEBI_17053 [The L-enantiomer of aspartic acid.]
aspartic acid CHEBI_22660 [An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent]
parotid gland intralobular duct UBERON_0035045 [Any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts.]
excretory duct of salivary gland UBERON_0035049 [Any of the interlobular excretory ducts of a salivary gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts[MP,generalized].]
D-asparaginate CHEBI_32656
D-asparaginium CHEBI_32657
Increased variability in muscle fiber diameter HP_0003557 [An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.]
Muscle hyperirritability HP_0003559
Viral infection-induced rhabdomyolysis HP_0003558 [Rhabdomyolysis induced by a viral infection.]
obsolete Cellulitis due to immunodeficiency HP_0003553
Increased CSF D-threitol concentration HP_0410058 [The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.]
Increased level of D-threitol in plasma HP_0410057 [An increase in the level of D-threitol in the plasma.]
arginine CHEBI_29016 [An alpha-amino acid that is glycine in which the alpha-is substituted by a 3-guanidinopropyl group.]
guanidines CHEBI_24436 [Any organonitrogen compound containing a carbamimidamido (guanidino) group. Guanidines have the general structure (R(1)R(2)N)(R(3)R(4)N)C=N-R(5) and are related structurally to amidines and ureas.]
Muscle fiber splitting HP_0003555 [Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.]
Type 2 muscle fiber atrophy HP_0003554 [Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.]
Muscle fiber atrophy HP_0100295
Increased level of D-threitol in urine HP_0410059 [An increase in the level of D-threitol in the urine.]
Decreased circulating GABA concentration HP_0410054 [A decrease in the level of GABA in the serum.]