Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
|
disease |
|
Disease or Syndrome
|
51
|
4
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2010 |
Central Nervous System Inborn Metabolic Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Brain Diseases, Metabolic, Inherited
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Brain Diseases, Metabolic, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Proximal tubulopathy
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
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 |
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|