Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.170 |
None |
0.875 |
8 |
1
|
2007 |
2019 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1021
|
66
|
0.100 |
None |
|
0 |
|
|
|
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
338
|
75
|
0.100 |
None |
|
0 |
|
|
|
Pain in lower limb
|
phenotype |
|
Sign or Symptom
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0037763 |
Disease: |
Spasm
|
Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cogwheel Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Static Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
62
|
3
|
0.100 |
None |
|
0 |
|
|
|
Quadriparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
61
|
4
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
Leg muscle stiffness
|
phenotype |
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophy
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Premature Birth
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
192
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Astrocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple glomerular cysts
|
phenotype |
|
Pathologic Function
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.060 |
None |
0.833 |
6 |
|
2005 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2018 |