Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
strong |
1.000 |
9 |
4
|
2000 |
2017 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
strong |
1.000 |
6 |
4
|
2005 |
2017 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
2 |
3
|
2016 |
2017 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.430 |
None |
1.000 |
3 |
|
2003 |
2018 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.420 |
limited |
1.000 |
3 |
1
|
2008 |
2016 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.400 |
strong |
1.000 |
2 |
1
|
2016 |
2017 |
Cataract and cardiomyopathy
|
disease |
Eye Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
7
|
15
|
0.310 |
None |
1.000 |
2 |
|
2002 |
2012 |
Mitochondrial DNA Depletion Syndrome 12
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
definitive |
1.000 |
10 |
|
1989 |
2015 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
13
|
0.300 |
None |
1.000 |
2 |
|
2000 |
2011 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Progeroid Syndrome, Congenital, Petty Type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.300 |
moderate |
1.000 |
1 |
|
2018 |
2018 |
Diabetic Cardiomyopathies
|
disease |
Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
220
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.300 |
None |
|
0 |
|
|
|
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
355
|
0.300 |
None |
|
0 |
|
|
|
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
13
|
|
0.300 |
None |
|
0 |
|
|
|
Chronic progressive external ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
13
|
0.200 |
None |
1.000 |
17 |
1
|
2001 |
2018 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cardiomyopathy, Alcoholic
|
disease |
Chemically-Induced Disorders; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Myocardial Reperfusion Injury
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
226
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cachexia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
273
|
11
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.140 |
None |
1.000 |
4 |
2
|
2000 |
2018 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.130 |
None |
1.000 |
3 |
|
1993 |
2015 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.120 |
None |
1.000 |
2 |
|
2002 |
2017 |
MAJOR AFFECTIVE DISORDER 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
34
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
MAJOR AFFECTIVE DISORDER 1
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
161
|
34
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |