Xanthomatosis, Cerebrotendinous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
71
|
0.800 |
None |
0.985 |
133 |
70
|
1975 |
2019 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.450 |
None |
1.000 |
5 |
|
2000 |
2013 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.420 |
None |
1.000 |
2 |
|
2005 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
1991 |
1991 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.400 |
strong |
1.000 |
1 |
|
2018 |
2018 |
Atherogenesis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2010 |
Reflex Epilepsy, Photosensitive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
moderate |
1.000 |
1 |
|
1991 |
1991 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Metabolic Bone Disorder
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
66
|
1
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Cholestasis, Extrahepatic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
87
|
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2017 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.120 |
None |
1.000 |
2 |
|
1994 |
2010 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2018 |
Reticulocyte count (procedure)
|
phenotype |
|
Laboratory Procedure
|
234
|
474
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|