3-Methylglutaconic aciduria type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
22
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Ankle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
82
|
136
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
5
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Autophagic vaculoes (finding)
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Becker Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
34
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.410 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.330 |
None |
1.000 |
3 |
|
2004 |
2009 |
CARDIOMYOPATHY, DILATED, 1C (disorder)
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
4
|
0.900 |
None |
1.000 |
2 |
4
|
2003 |
2004 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
|
0 |
|
|
|
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.020 |
None |
1.000 |
2 |
3
|
2009 |
2020 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Clinically isolated syndrome
|
disease |
|
Disease or Syndrome
|
54
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Decreased Achilles reflex
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased patellar reflex
|
phenotype |
|
Finding
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
2017 |
2017 |
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
EMG: neuropathic changes
|
phenotype |
|
Finding
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Endomyocardial Fibrosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Familial dilated cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
47
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2004 |
Fatigable weakness of distal limb muscles
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|