MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.400 |
moderate |
1.000 |
1 |
1
|
2017 |
2017 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.100 |
None |
1.000 |
7 |
2
|
2011 |
2019 |
Biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
132
|
36
|
0.100 |
None |
1.000 |
2 |
1
|
2011 |
2012 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.100 |
None |
1.000 |
2 |
2
|
2011 |
2013 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Rheumatoid Arthritis, Systemic Juvenile
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
30
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Systemic onset juvenile chronic arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
90
|
53
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Juvenile-Onset Still Disease
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
171
|
41
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Juvenile arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
450
|
128
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Juvenile pauciarticular chronic arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
26
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
26
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Oligoarticular Juvenile Idiopathic Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
51
|
35
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Poor eye contact
|
phenotype |
Mental Disorders
|
Finding
|
73
|
6
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal involuntary eye movements
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|