Creatine phosphokinase serum increased
phenotype
Finding
228
43
0.100
None
0
Steatohepatitis
disease
Digestive System Diseases
Disease or Syndrome
1143
75
0.100
None
0
Unconscious State
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
13
1
0.100
None
0
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Rhabdomyolysis
phenotype
Musculoskeletal Diseases
Pathologic Function
36
15
0.300
strong
0
Carnitine deficiency
phenotype
Finding
15
1
0.100
None
0
Elevated hepatic transaminase
phenotype
Finding
212
9
0.100
None
0
Exercise-induced myalgia
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
37
4
0.100
None
0
Dicarboxylic aciduria
phenotype
Finding
8
0.100
None
0
Myopathy
group
Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
634
166
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
HYPERGLYCINURIA (disorder)
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
14
3
0.100
None
0
Decreased liver function
phenotype
Finding
59
5
0.100
None
0
Dyspnea on exertion
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
102
3
0.100
None
0
Proximal muscle weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
112
11
0.100
None
0
Macrocephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
367
10
0.100
None
0
Hyperammonemia
phenotype
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
102
8
0.100
None
0
Metabolic acidosis
phenotype
Nutritional and Metabolic Diseases
Pathologic Function
85
0.100
None
0
Distal arthrogryposis syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
22
15
0.100
None
0
Delayed speech and language development
phenotype
Behavior and Behavior Mechanisms
Finding
560
192
0.100
None
0
Tonic - clonic seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
300
32
0.100
None
0
Skeletal muscle atrophy
phenotype
Pathologic Function
306
12
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Fatigue
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
760
67
0.100
None
0