Reduced erythrocyte 2,3-diphosphoglycerate concentration
phenotype
Finding
2
0.100
None
0
Disorder of fatty acid metabolism
group
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
6
0.010
None
1.000
1
2017
2017
Increased muscle glycogen content
phenotype
Finding
6
0.100
None
0
Disorder of purine metabolism
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
7
0.010
None
1.000
1
2017
2017
Exercise-induced myoglobinuria
phenotype
Musculoskeletal Diseases
Finding
8
2
0.100
None
0
Exercise-induced muscle cramps
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
8
1
0.100
None
0
Glycogen Storage Disease Type VII
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
9
9
0.940
None
1.000
17
9
1990
2016
Elevated total bilirubin
phenotype
Finding
17
1
0.100
None
0
Myotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
19
7
0.100
None
0
Rhabdomyolysis
phenotype
Musculoskeletal Diseases
Pathologic Function
36
15
0.100
None
1.000
1
1
2017
2017
Reticulocytosis
phenotype
Pathological Conditions, Signs and Symptoms
Finding
40
1
0.100
None
0
Renal tubular acidosis
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
52
3
0.010
None
1.000
1
2008
2008
Glycogen Storage Disease
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
63
16
0.400
limited
1.000
3
1
1994
1997
Neuromuscular inhibition
disease
Disease or Syndrome
72
2
0.010
None
1.000
1
2017
2017
Impaired exercise tolerance
phenotype
Finding
76
7
0.100
None
0
Impaired insulin secretion
disease
Disease or Syndrome
88
14
0.010
None
1.000
1
1997
1997
Alloxan Diabetes
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Experimental Model of Disease
112
0.300
None
1.000
1
2004
2004
Streptozotocin Diabetes
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Experimental Model of Disease
112
0.300
None
1.000
1
2004
2004
Hemoglobin measurement
phenotype
Laboratory Procedure
131
224
0.100
None
1.000
1
1
2016
2016
Hematocrit procedure
phenotype
Laboratory Procedure
138
216
0.100
None
1.000
1
1
2016
2016
Anemia, Hemolytic
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
154
31
0.100
None
0
Hyperuricemia
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
196
76
0.100
None
0
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.100
None
0
Urinary tract infection
group
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
Disease or Syndrome
219
14
0.010
None
1.000
1
2019
2019
Icterus
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
241
17
0.100
None
0