Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.030 |
None |
1.000 |
3 |
2
|
2012 |
2019 |
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.700 |
None |
1.000 |
3 |
5
|
2015 |
2017 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.030 |
None |
1.000 |
3 |
1
|
2014 |
2017 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Spastic paraplegia type 5A, recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Glaucoma, Open-Angle
|
disease |
Eye Diseases
|
Disease or Syndrome
|
130
|
236
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
5
|
2017 |
2017 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|