Senile Plaques
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
249
|
21
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Plaque, Amyloid
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
123
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal involuntary eye movements
|
disease |
|
Anatomical Abnormality
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2011 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital Hydrocephalus
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
39
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Jaw Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
9
|
|
0.010 |
None |
< 0.001 |
1 |
|
2009 |
2009 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
1.000 |
limited |
0.987 |
1305 |
21
|
1993 |
2020 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.100 |
None |
1.000 |
231 |
|
1994 |
2020 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.100 |
None |
1.000 |
15 |
|
2003 |
2019 |
Juvenile Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
12
|
|
0.530 |
None |
1.000 |
15 |
|
2004 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.100 |
None |
1.000 |
14 |
|
2000 |
2019 |
Huntington Disease, Late Onset
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
11 |
|
2004 |
2017 |
Akinetic-Rigid Variant of Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
11 |
|
2004 |
2017 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.080 |
None |
1.000 |
8 |
|
1997 |
2020 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.070 |
None |
0.857 |
7 |
1
|
2011 |
2019 |
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.160 |
None |
1.000 |
6 |
|
2002 |
2019 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.060 |
None |
1.000 |
6 |
|
2006 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.440 |
None |
1.000 |
5 |
|
2004 |
2016 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.040 |
None |
1.000 |
4 |
|
1998 |
2014 |
Degenerative disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
160
|
6
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2015 |