AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
strong |
1.000 |
6 |
9
|
2011 |
2015 |
Frontotemporal Dementia With Motor Neuron Disease
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Axonal loss
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Athetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of swallowing muscles
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Laryngospasm
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Xerostomia
|
disease |
Stomatognathic Diseases
|
Finding
|
56
|
1
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of respiratory muscles
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Paralysed
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Agitation
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
109
|
4
|
0.100 |
None |
|
0 |
|
|
|
GRN-related frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
112
|
20
|
0.040 |
None |
1.000 |
4 |
|
2013 |
2016 |
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Amyotrophic Lateral Sclerosis, Familial
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
130
|
68
|
0.040 |
None |
1.000 |
4 |
2
|
2012 |
2019 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
164
|
139
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.100 |
None |
|
0 |
|
|
|
Mood swings
|
disease |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
171
|
1
|
0.100 |
None |
|
0 |
|
|
|