MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.600 |
None |
1.000 |
5 |
1
|
2005 |
2016 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.420 |
None |
1.000 |
5 |
2
|
2005 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.400 |
None |
1.000 |
2 |
5
|
2010 |
2010 |
Central Nervous System Inborn Metabolic Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Brain Diseases, Metabolic, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Brain Diseases, Metabolic, Inherited
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
1
|
2000 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
9 |
1
|
2000 |
2016 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
3 |
3
|
2018 |
2019 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.100 |
None |
1.000 |
2 |
2
|
2016 |
2017 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Smoking
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
391
|
765
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Lymphocyte Count measurement
|
phenotype |
|
Laboratory Procedure
|
338
|
456
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|