All terms in HP

Label Id Description
Extremely elevated creatine kinase HP_0030235 [An increased creatine kinase level more than 50X above the upper normal level.]
Elevated circulating creatine kinase concentration HP_0003236 [An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.]
Abnormality of muscle size HP_0030236 [Abnormalities of the overall muscle bulk based on clinical observation.]
Focal impaired awareness sensory seizure with gustatory features HP_0032897 [A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.]
obsolete Premature peripheral vascular disease HP_0005299
Premature occlusive vascular stenosis HP_0005297 [Peripheral arterial stenosis with onset before the age of 50 years.]
obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia HP_0005298
Pseudocoarctation of the aorta HP_0005295 [Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.]
obsolete Occlusive vascular disease HP_0005296
Music-induced seizure HP_0032896 [Seizure precipitated by listening to music or other complex sounds.]
Bethlem sign HP_0030233 [Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.]
Highly elevated creatine kinase HP_0030234 [An increased CPK level between 4X and 50X above the upper normal level.]
Febrile seizure outside the age of 3 months to 6 years HP_0032895 [Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.]
human xenobiotic metabolite CHEBI_76967 [Any human metabolite produced by metabolism of a xenobiotic compound in humans.]
xenobiotic metabolite CHEBI_76206 [Any metabolite produced by metabolism of a xenobiotic compound.]
Infection-related seizure HP_0032892 [Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.]
Glycogen accumulation in muscle fiber lysosomes HP_0030231 [An increased amount of glycogen in muscle tissue found specifically in lysosomes.]
Increased sarcoplasmic glycogen HP_0030232 [Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.]
Gastroenteritis-related afebrile seizure HP_0032893 [Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.]
prokaryotic metabolite CHEBI_75787 [Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea.]