COENZYME Q10 DEFICIENCY, PRIMARY, 5
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
10 |
2
|
2001 |
2017 |
COENZYME Q10 DEFICIENCY, PRIMARY, 1
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.300 |
strong |
1.000 |
1 |
|
2009 |
2009 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Weak cry
|
phenotype |
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathy, CTCAE 3.0
|
phenotype |
|
Finding
|
14
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
MERRF Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
13
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hepatitis, Toxic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
537
|
29
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hepatitis, Drug-Induced
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
418
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Drug-Induced Acute Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
413
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chemically-Induced Liver Toxicity
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hyperthyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
279
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Steroid-resistant nephrotic syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
73
|
25
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Steroid resistant nephrotic syndrome of childhood
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
73
|
19
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |