Mitochondrial abnormalities
|
disease |
|
Anatomical Abnormality
|
83
|
20
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2018 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Abnormal saccadic eye movement
|
disease |
|
Anatomical Abnormality
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of thalamus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse white matter abnormalities
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
34
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebral cortex
|
disease |
|
Anatomical Abnormality
|
11
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormal globus pallidus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal caudate nucleus morphology
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
8
|
0.700 |
None |
1.000 |
13 |
8
|
1999 |
2016 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.540 |
definitive |
0.917 |
12 |
2
|
1999 |
2016 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.400 |
None |
0.909 |
11 |
|
2000 |
2018 |
Mitochondrial DNA Depletion Syndrome 1
|
disease |
|
Disease or Syndrome
|
4
|
78
|
0.100 |
None |
1.000 |
11 |
50
|
1999 |
2011 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.490 |
None |
0.900 |
10 |
|
2000 |
2018 |
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
disease |
|
Disease or Syndrome
|
4
|
2
|
0.090 |
None |
1.000 |
9 |
1
|
2001 |
2019 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.380 |
None |
1.000 |
8 |
1
|
2001 |
2015 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
8
|
0.300 |
definitive |
1.000 |
7 |
|
1999 |
2010 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
definitive |
1.000 |
7 |
|
1999 |
2010 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.300 |
definitive |
1.000 |
7 |
|
1999 |
2010 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.300 |
definitive |
1.000 |
7 |
|
1999 |
2010 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
definitive |
1.000 |
7 |
|
1999 |
2010 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
definitive |
1.000 |
7 |
|
1999 |
2010 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.350 |
strong |
1.000 |
6 |
|
1999 |
2016 |