Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.050 |
None |
1.000 |
5 |
|
2010 |
2019 |
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.310 |
strong |
1.000 |
2 |
|
2014 |
2018 |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Usher Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
68
|
74
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Usher Syndrome, Type III
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
13
|
24
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2019 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Deaf-Blind Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
11
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Distal muscle atrophy due to neurologic disease
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Normal serum phytanic and pristanic acid
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Juvenile cataract
|
disease |
Eye Diseases
|
Anatomical Abnormality
|
16
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ataxias, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|