From HPO
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Exercise intolerance- MedGen UID:
- 603270
- •Concept ID:
- C0424551
- •
- Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Exercise-induced myalgia- MedGen UID:
- 340638
- •Concept ID:
- C1850830
- •
- Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Exercise-induced myoglobinuria- MedGen UID:
- 337172
- •Concept ID:
- C1845155
- •
- Finding
Presence of myoglobin in the urine following exercise.
Cholelithiasis- MedGen UID:
- 3039
- •Concept ID:
- C0008350
- •
- Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Easy fatigability- MedGen UID:
- 373253
- •Concept ID:
- C1837098
- •
- Finding
Increased susceptibility to fatigue.
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Reticulocytosis- MedGen UID:
- 60089
- •Concept ID:
- C0206160
- •
- Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Reduced erythrocyte 2,3-diphosphoglycerate concentration- MedGen UID:
- 868155
- •Concept ID:
- C4022546
- •
- Finding
This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.
Gout- MedGen UID:
- 42280
- •Concept ID:
- C0018099
- •
- Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Increased variability in muscle fiber diameter- MedGen UID:
- 336019
- •Concept ID:
- C1843700
- •
- Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Exercise-induced muscle cramps- MedGen UID:
- 383715
- •Concept ID:
- C1855578
- •
- Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Exercise-induced muscle stiffness- MedGen UID:
- 343388
- •Concept ID:
- C1855579
- •
- Finding
A type of muscle stiffness that occurs following physical exertion.
Exercise-induced muscle fatigue- MedGen UID:
- 340906
- •Concept ID:
- C1855580
- •
- Finding
An abnormally increased tendency towards muscle fatigue induced by physical exercise.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
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.
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
An abnormally high level of uric acid in the blood.
Increased total bilirubin- MedGen UID:
- 152856
- •Concept ID:
- C0741494
- •
- Finding
Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
Increased muscle glycogen content- MedGen UID:
- 409660
- •Concept ID:
- C1968729
- •
- Finding
An increased amount of glycogen in muscle tissue.
Elevated circulating aldolase concentration- MedGen UID:
- 868464
- •Concept ID:
- C4022858
- •
- Finding
Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.
Increased circulating lactate dehydrogenase concentration- MedGen UID:
- 1377250
- •Concept ID:
- C4477095
- •
- Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
Reduced muscle 6-phosphofructokinase activity- MedGen UID:
- 1054705
- •Concept ID:
- CN376955
- •
- Finding
Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom