Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.100 |
None |
1.000 |
13 |
|
2011 |
2018 |
Whispering dysphonia, hereditary
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
|
0.620 |
None |
1.000 |
5 |
|
2013 |
2016 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.140 |
None |
1.000 |
4 |
|
2014 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.130 |
None |
1.000 |
3 |
|
2012 |
2019 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.030 |
None |
0.667 |
3 |
|
2013 |
2014 |
Bone Cysts, Aneurysmal
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
79
|
5
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2015 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Early onset torsion dystonia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Isovaleryl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
55
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
30
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Complicated hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
32
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Mental impairment
|
disease |
|
Mental or Behavioral Dysfunction
|
67
|
14
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cervical Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
23
|
13
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |