Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
1.000 |
None |
0.992 |
124 |
125
|
2001 |
2019 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
15
|
0.760 |
strong |
1.000 |
20 |
14
|
2003 |
2016 |
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
|
0.700 |
None |
1.000 |
15 |
13
|
2001 |
2017 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
disease |
|
Disease or Syndrome
|
2
|
17
|
0.700 |
None |
1.000 |
8 |
15
|
2003 |
2016 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.620 |
None |
1.000 |
43 |
1
|
2001 |
2018 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.600 |
None |
1.000 |
30 |
27
|
2001 |
2016 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.520 |
None |
1.000 |
3 |
|
2001 |
2003 |
Mood Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
580
|
308
|
0.520 |
None |
1.000 |
3 |
|
2004 |
2017 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.500 |
None |
0.957 |
46 |
8
|
2003 |
2020 |
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
|
0.500 |
None |
0.976 |
41 |
3
|
2002 |
2019 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.500 |
None |
0.952 |
21 |
3
|
2004 |
2019 |
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.500 |
None |
1.000 |
3 |
|
2008 |
2014 |
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.440 |
None |
1.000 |
5 |
2
|
2005 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.430 |
None |
1.000 |
79 |
11
|
2001 |
2019 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.420 |
None |
1.000 |
2 |
1
|
2004 |
2007 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.400 |
None |
1.000 |
12 |
4
|
2008 |
2018 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.400 |
None |
1.000 |
2 |
|
2010 |
2010 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.400 |
None |
1.000 |
2 |
|
2010 |
2010 |
Mitochondrial DNA Depletion Syndrome 1
|
disease |
|
Disease or Syndrome
|
4
|
78
|
0.400 |
None |
|
0 |
7
|
|
|
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.370 |
None |
1.000 |
10 |
2
|
2008 |
2016 |
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
516
|
146
|
0.370 |
None |
0.625 |
8 |
|
2004 |
2013 |
Diffuse Cerebral Sclerosis of Schilder
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.340 |
None |
1.000 |
7 |
|
2005 |
2010 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.330 |
None |
1.000 |
4 |
2
|
2009 |
2017 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2008 |
Balo's Concentric Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
3 |
|
2008 |
2010 |