Autosomal dominant cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
31
|
2
|
0.050 |
None |
1.000 |
5 |
|
2001 |
2015 |
Diffuse cerebral atrophy
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Finding
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Urinary Urgency, CTCAE 5
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Ataxias, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Paranoia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Neuronal loss in central nervous system
|
phenotype |
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Urgency of micturition
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Personality Change
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
43
|
6
|
0.100 |
None |
|
0 |
|
|
|
Blepharospasm
|
disease |
Eye Diseases
|
Disease or Syndrome
|
44
|
6
|
0.100 |
None |
|
0 |
|
|
|
Mutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
47
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hereditary spherocytosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
53
|
13
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2011 |
Rotator cuff syndrome
|
disease |
Wounds and Injuries
|
Disease or Syndrome
|
54
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
|
0 |
|
|
|
Resting Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
57
|
5
|
0.100 |
None |
|
0 |
|
|
|
Postural instability
|
phenotype |
Nervous System Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Herpesviridae Infections
|
group |
Infections
|
Disease or Syndrome
|
62
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
67
|
37
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Muscle degeneration
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
70
|
3
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
|
0 |
|
|
|
Avascular Necrosis of Femur Head
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
74
|
20
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Endometrial Stromal Sarcoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
75
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Confusion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
76
|
3
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |