Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
12
|
0.970 |
definitive |
0.833 |
12 |
12
|
2010 |
2019 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.400 |
strong |
1.000 |
2 |
1
|
2014 |
2018 |
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.400 |
strong |
1.000 |
2 |
1
|
2014 |
2018 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.400 |
strong |
1.000 |
2 |
1
|
2014 |
2018 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.400 |
strong |
1.000 |
2 |
1
|
2014 |
2018 |
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
0.400 |
strong |
1.000 |
2 |
1
|
2014 |
2018 |
Subcapsular cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Acquired Abnormality
|
17
|
1
|
0.400 |
strong |
1.000 |
2 |
1
|
2014 |
2018 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
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 |
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.310 |
strong |
1.000 |
2 |
|
2014 |
2018 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.310 |
strong |
1.000 |
1 |
1
|
2014 |
2014 |
Distal muscle atrophy due to neurologic disease
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Normal serum phytanic and pristanic acid
|
phenotype |
|
Finding
|
1
|
|
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 |
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 |
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 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.300 |
strong |
|
0 |
|
|
|
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.160 |
None |
1.000 |
6 |
1
|
2012 |
2018 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.140 |
None |
1.000 |
4 |
1
|
2012 |
2018 |
peak expiratory flow (procedure)
|
phenotype |
|
Laboratory Procedure
|
74
|
119
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Age at menopause
|
phenotype |
|
Finding
|
129
|
209
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |