MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
1 |
2
|
2018 |
2018 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malignant neoplasm of urinary bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2113
|
316
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Bladder Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2130
|
281
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2018 |
Myocardial Reperfusion Injury
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
226
|
|
0.200 |
None |
1.000 |
2 |
|
2014 |
2015 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Calcification of the aorta
|
phenotype |
|
Pathologic Function
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.200 |
None |
1.000 |
1 |
|
2017 |
2017 |
Left Ventricular Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
403
|
67
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intermittent lactic acidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Weight less than 3rd percentile
|
phenotype |
|
Finding
|
22
|
27
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Electrocardiogram abnormal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
11
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Chronic lactic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
4
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Thickened nuchal skin fold
|
phenotype |
|
Finding
|
58
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Exercise-induced muscle fatigue
|
phenotype |
|
Finding
|
18
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hearing abnormality
|
disease |
|
Finding
|
24
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |