Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.070 |
None |
0.857 |
7 |
|
1993 |
2009 |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
3 |
1
|
2010 |
2016 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2018 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
52
|
73
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2015 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
235
|
34
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Adult type dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
218
|
31
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Pediatric Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
191
|
67
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.100 |
None |
|
0 |
|
|
|
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of mitochondrial ATP synthase complex
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Fluoride Poisoning
|
disease |
Chemically-Induced Disorders
|
Injury or Poisoning
|
6
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Blast Phase
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
299
|
14
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of thyroid
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
949
|
103
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |