ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
|
disease |
|
Disease or Syndrome
|
3
|
8
|
0.700 |
strong |
1.000 |
9 |
8
|
2007 |
2018 |
OPTIC ATROPHY 5 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.700 |
strong |
1.000 |
3 |
4
|
2007 |
2017 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.420 |
None |
0.667 |
3 |
|
2007 |
2017 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.410 |
None |
1.000 |
2 |
|
2007 |
2016 |
Optic Atrophy 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
45
|
0.400 |
None |
1.000 |
31 |
|
2013 |
2020 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.400 |
None |
1.000 |
20 |
1
|
2010 |
2020 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.400 |
None |
1.000 |
1 |
|
2007 |
2007 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.330 |
strong |
1.000 |
3 |
|
2016 |
2019 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myocardial Ischemia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
756
|
103
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.210 |
None |
1.000 |
2 |
|
2012 |
2020 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.210 |
None |
1.000 |
1 |
|
2017 |
2017 |
High altitude pulmonary edema
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
56
|
45
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.200 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dental Fluorosis, Acquired
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
62
|
10
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.150 |
None |
1.000 |
7 |
1
|
2016 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.150 |
None |
1.000 |
5 |
2
|
2016 |
2019 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.130 |
None |
1.000 |
3 |
|
2017 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2018 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.100 |
None |
1.000 |
23 |
|
2009 |
2020 |