All terms in HP

Label Id Description
Progressive language deterioration HP_0007064 [Progressive loss of previously present language abilities.]
Thick corpus callosum HP_0007074 [Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.]
Extension contracture of finger HP_0034682 [A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.]
Reduced muscle telethonin level HP_0034683 [Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.]
Abnormal muscle fiber protein expression HP_0030089 [An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.]
Reduced hepatic urocanase activity HP_0034686 [Activity of urocanase in the liver below the lower limit of normal.]
Impaired cerebroside sulfate hydrolysis HP_0034687 [Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate.]
Reduced peroxisomal glutaryl-CoA oxidase activity HP_0034688 [Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.]
dwarf-like PATO_0000969 [A size quality inhering in a bearer by virtue of the bearer's being abnormally small.]
Reduced sterol 27-hydroxylase activity HP_0034689 [Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.]
Retinal dots HP_0032027 [Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.]
undulate PATO_0000967 [A shape quality inhering in a bearer by virtue of the bearer's having a sinuate margin and rippled surface.]
Anetoderma HP_0032026 [Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.]
transparent PATO_0000964 [A optical quality inhering in a bearer by virtue of the bearer's lacking opacity.]
opacity PATO_0000957 [An optical quality which obtains by virtue of the ability of the bearer to absorb visible light.]
Reduced circulating alpha-1-antitrypsin concentration HP_0032025 [A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.]
Ileal ulcer HP_0032024 [An erosion of the mucous membrane in a portion of the ileum.]
Eosinophilic gallbladder infiltration HP_0032023 [Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.]
Gastrointestinal eosinophilia HP_0032064 [Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.]
opaque PATO_0000963 [A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy.]