Myoclonus, Action
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
1
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2018 |
Morning myoclonic jerks
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Obstruction of biliary tree
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Edema of foot (finding)
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal myocardium morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.800 |
None |
1.000 |
22 |
20
|
2008 |
2018 |
Enterovirus 71 infection
|
disease |
Infections
|
Disease or Syndrome
|
21
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hypersplenism
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Familial hematuria
|
disease |
|
Disease or Syndrome
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Compression fracture of vertebral column
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased antibody level in blood
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with polyspike wave complexes
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Pathological fracture
|
phenotype |
Wounds and Injuries
|
Pathologic Function
|
35
|
2
|
0.100 |
None |
|
0 |
|
|
|
Rapidly progressive
|
phenotype |
|
Finding
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Aseptic necrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Pathologic Function
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Avascular necrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Avascular Necrosis, CTCAE
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
REM Sleep Behavior Disorder
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
46
|
16
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Epilepsy, Rolandic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
81
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.400 |
None |
1.000 |
11 |
1
|
2008 |
2018 |
Hyperprolactinemia
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
48
|
10
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
124
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Gingival Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Pathologic Function
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.390 |
None |
1.000 |
9 |
|
2008 |
2018 |