SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
limited |
1.000 |
5 |
7
|
2012 |
2016 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.320 |
strong |
1.000 |
2 |
|
2014 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.110 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
|
disease |
|
Disease or Syndrome
|
2
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2017 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2017 |
Peripheral motor neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
64
|
20
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Amyotrophy, monomelic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
15
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Bulbo-Spinal Atrophy, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
126
|
30
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Motor Neuron Disease, Lower
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |