Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
18
|
0.700 |
None |
1.000 |
17 |
18
|
2001 |
2019 |
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 |
5
|
2003 |
2018 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.200 |
None |
1.000 |
16 |
3
|
1997 |
2016 |
Infantile onset spinocerebellar ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
10
|
0.770 |
None |
1.000 |
14 |
10
|
1997 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.200 |
None |
1.000 |
12 |
|
1997 |
2010 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.100 |
None |
0.900 |
10 |
|
2000 |
2018 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.170 |
None |
1.000 |
8 |
7
|
2010 |
2017 |
SPINOCEREBELLAR ATAXIA 8
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
21
|
|
0.080 |
None |
1.000 |
8 |
|
2004 |
2015 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.070 |
None |
1.000 |
7 |
|
2009 |
2017 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.070 |
None |
1.000 |
7 |
|
2001 |
2018 |
Gonadal dysgenesis XX type deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
14
|
11
|
0.350 |
None |
1.000 |
6 |
2
|
2014 |
2019 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.060 |
None |
1.000 |
6 |
|
2009 |
2017 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.050 |
None |
1.000 |
5 |
|
2011 |
2017 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2017 |
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2017 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.240 |
None |
1.000 |
4 |
|
2004 |
2015 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2019 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.120 |
None |
1.000 |
3 |
2
|
2008 |
2016 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2014 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.030 |
None |
1.000 |
3 |
1
|
2011 |
2019 |
Ataxic
|
phenotype |
|
Sign or Symptom
|
15
|
4
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2008 |
PERRAULT SYNDROME 5
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.600 |
None |
1.000 |
2 |
6
|
2010 |
2014 |
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
|
0.510 |
None |
1.000 |
2 |
|
2005 |
2014 |
Autosomal dominant cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
31
|
2
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2008 |