Snowflake vitreoretinal degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Degenerative brain disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Multiple System Atrophy
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
19
|
6
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital pes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
84
|
0.100 |
None |
|
0 |
6
|
|
|
Semantic Dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
20
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Wallerian Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2000 |
2000 |
Hypertrophic neuropathy of infancy
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hereditary motor and sensory neuropathy, types I-IV
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Peroneal muscular atrophy (axonal type) (hypertrophic type)
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Segmental peripheral demyelination/remyelination
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Bodily Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
22
|
4
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Idiopathic normal pressure hydrocephalus (INPH)
|
disease |
|
Disease or Syndrome
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Endemic Cretinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
26
|
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Peripheral demyelination
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
27
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Onion bulb formation
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
29
|
140
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Senile cardiac amyloidosis
|
disease |
Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
33
|
19
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Behavioral variant of frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
35
|
10
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Corticobasal degeneration
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
35
|
14
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Dementia due to Alzheimer's disease (disorder)
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
35
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |