Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.500 |
None |
1.000 |
45 |
11
|
1990 |
2020 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2020 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Neuropathy ataxia and retinis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.700 |
None |
0.950 |
20 |
2
|
1990 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.170 |
None |
0.875 |
8 |
1
|
2007 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.180 |
None |
0.875 |
8 |
5
|
1998 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.070 |
None |
0.857 |
7 |
|
2007 |
2019 |
Optic Atrophy, Hereditary, Leber
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
46
|
0.650 |
None |
1.000 |
6 |
3
|
1995 |
2019 |
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.540 |
None |
1.000 |
6 |
|
2007 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Multiple Carboxylase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Holocarboxylase Synthetase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
37
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Acute Myeloid Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
215
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
High altitude pulmonary edema
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
56
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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
|
0.130 |
None |
1.000 |
6 |
10
|
2007 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.060 |
None |
0.833 |
6 |
|
2005 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2018 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2018 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kearns-Sayre syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Respiration Disorders
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
208
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Respiratory Tract Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
198
|
109
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
POLG mutation
|
disease |
|
Congenital Abnormality
|
3
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |