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 |
Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
1.000 |
None |
0.992 |
124 |
125
|
2001 |
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 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.500 |
None |
0.957 |
46 |
8
|
2003 |
2020 |
Liver Failure, Acute
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
282
|
21
|
0.130 |
None |
1.000 |
44 |
1
|
2001 |
2018 |
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.120 |
None |
1.000 |
43 |
1
|
2001 |
2018 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.620 |
None |
1.000 |
43 |
1
|
2001 |
2018 |
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.120 |
None |
1.000 |
42 |
1
|
2001 |
2018 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.110 |
None |
1.000 |
42 |
1
|
2001 |
2018 |
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
Limb dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
Static Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
62
|
3
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
Decreased tendon reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
10
|
13
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
Impaired proprioception
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
15
|
3
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
Kinetic tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
5
|
0.100 |
None |
1.000 |
41 |
1
|
2001 |
2018 |
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 |
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 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.500 |
None |
0.952 |
21 |
3
|
2004 |
2019 |
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 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.140 |
None |
1.000 |
13 |
2
|
2008 |
2017 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.100 |
None |
0.692 |
13 |
3
|
2006 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.400 |
None |
1.000 |
12 |
4
|
2008 |
2018 |
Ataxia Neuropathy Spectrum
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
1.000 |
12 |
2
|
2006 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.200 |
None |
0.909 |
11 |
3
|
2004 |
2016 |