MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
49
|
0.920 |
None |
1.000 |
24 |
49
|
2010 |
2017 |
Osteogenesis imperfecta, Levin type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
9
|
28
|
0.800 |
None |
1.000 |
34 |
28
|
2004 |
2019 |
Miyoshi Muscular Dystrophy 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
8
|
0.740 |
None |
1.000 |
7 |
8
|
2010 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.500 |
strong |
1.000 |
30 |
|
2006 |
2019 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.400 |
None |
0.944 |
18 |
2
|
2010 |
2019 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
16 |
3
|
2012 |
2019 |
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.130 |
None |
1.000 |
3 |
|
2014 |
2017 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
< 0.001 |
1 |
|
2013 |
2013 |
Muscular stiffness
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
92
|
6
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hereditary fructose intolerance syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
47
|
0.100 |
None |
1.000 |
7 |
1
|
2010 |
2015 |
Cardiac troponin I measurement
|
phenotype |
|
Laboratory Procedure
|
11
|
14
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Creatine kinase measurement
|
phenotype |
|
Laboratory Procedure
|
29
|
51
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Thyroid stimulating hormone measurement
|
phenotype |
|
Laboratory Procedure
|
42
|
83
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Blood thyroid stimulating hormone analysis
|
phenotype |
|
Laboratory Procedure
|
6
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Calf muscle hypertrophy
|
phenotype |
|
Finding
|
46
|
5
|
0.100 |
None |
|
0 |
|
|
|
Genu recurvatum
|
disease |
|
Anatomical Abnormality
|
32
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Thickened cortex of long bones
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Calf muscle pseudohypertrophy
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb muscle weakness
|
phenotype |
|
Finding
|
49
|
11
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Muscle fiber splitting
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|