Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal saccadic eye movement
|
disease |
|
Anatomical Abnormality
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Friedreich Ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
88
|
11
|
0.900 |
definitive |
0.997 |
332 |
7
|
1976 |
2020 |
FRIEDREICH ATAXIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
119
|
24
|
0.800 |
None |
0.983 |
230 |
16
|
1997 |
2020 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.100 |
None |
0.988 |
84 |
|
1997 |
2020 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.100 |
None |
0.980 |
50 |
2
|
1996 |
2020 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.100 |
None |
1.000 |
16 |
|
1997 |
2020 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.200 |
None |
0.938 |
16 |
|
1988 |
2019 |
Iron Overload
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
241
|
53
|
0.100 |
None |
1.000 |
13 |
|
1999 |
2020 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.200 |
None |
1.000 |
11 |
|
1988 |
2020 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.090 |
None |
1.000 |
9 |
|
1988 |
2020 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.090 |
None |
1.000 |
9 |
|
1997 |
2020 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.080 |
None |
1.000 |
8 |
|
1996 |
2018 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.080 |
None |
1.000 |
8 |
|
2003 |
2019 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.070 |
None |
0.857 |
7 |
|
1989 |
2011 |
Ataxias, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.360 |
strong |
1.000 |
7 |
|
1981 |
2019 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.170 |
None |
0.857 |
7 |
|
1996 |
2019 |
Degenerative disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
160
|
6
|
0.070 |
None |
1.000 |
7 |
|
2010 |
2020 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.060 |
None |
0.833 |
6 |
1
|
1998 |
2020 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.060 |
None |
1.000 |
6 |
|
2000 |
2020 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.050 |
None |
1.000 |
5 |
|
1996 |
2017 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.050 |
None |
1.000 |
5 |
|
1996 |
2019 |