Abnormal mitochondria in muscle tissue
|
disease |
|
Anatomical Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial DNA mutation
|
disease |
|
Congenital Abnormality
|
25
|
7
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2007 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.490 |
None |
1.000 |
15 |
16
|
2001 |
2019 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
|
disease |
|
Disease or Syndrome
|
51
|
4
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2017 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.030 |
None |
1.000 |
3 |
4
|
2009 |
2017 |
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.310 |
None |
1.000 |
3 |
|
2005 |
2012 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.400 |
None |
1.000 |
3 |
3
|
2001 |
2010 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.210 |
None |
1.000 |
2 |
|
2005 |
2011 |
Epilepsia Partialis Continua
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
15
|
1
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2017 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.200 |
None |
1.000 |
1 |
|
1995 |
1995 |
MELAS Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
80
|
53
|
0.010 |
None |
1.000 |
1 |
5
|
2019 |
2019 |
High altitude pulmonary edema
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
56
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Encephalomyelopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Leber plus disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|