Posterior capsular cataract
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Late-onset proximal muscle weakness
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.500 |
None |
0.929 |
14 |
4
|
2003 |
2019 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2011 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.120 |
None |
1.000 |
2 |
1
|
2014 |
2017 |
Familial dilated cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
47
|
0.300 |
None |
1.000 |
2 |
|
2006 |
2006 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.020 |
None |
1.000 |
2 |
1
|
2006 |
2014 |
Restrictive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
41
|
30
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Myocardial Ischemia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
756
|
103
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
21
|
24
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Mitral Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
94
|
11
|
0.100 |
None |
|
0 |
|
|
|
Congenital arteriovenous malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
163
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital lamellar cataract
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
18
|
6
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Fleck corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Distal Muscular Dystrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
18
|
0.010 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
NONAKA MYOPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
132
|
81
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.100 |
None |
|
0 |
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
48
|
0.030 |
None |
1.000 |
3 |
1
|
2002 |
2011 |
Arteriovenous hemangioma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases
|
Neoplastic Process
|
76
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Alexander Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
27
|
99
|
0.060 |
None |
1.000 |
6 |
2
|
1989 |
2014 |