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 |
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 |
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 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
16 |
3
|
2012 |
2019 |
Distal Muscular Dystrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
18
|
0.080 |
None |
1.000 |
8 |
|
2010 |
2019 |
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 |
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 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2019 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2019 |
Miyoshi myopathy
|
disease |
|
Disease or Syndrome
|
7
|
19
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2016 |
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 |
Miyoshi Muscular Dystrophy 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
25
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2016 |
BETHLEM MYOPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
108
|
0.020 |
None |
0.500 |
2 |
|
2012 |
2012 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.020 |
None |
0.500 |
2 |
|
2012 |
2014 |
Limb-girdle muscular dystrophy type 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
146
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Calf muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Muscle eye brain disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
74
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Fukuyama Type Congenital Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
29
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Blood thyroid stimulating hormone analysis
|
phenotype |
|
Laboratory Procedure
|
6
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1175
|
145
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Florid cemento-osseous dysplasia
|
disease |
Infections; Musculoskeletal Diseases
|
Neoplastic Process
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Scott Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
< 0.001 |
1 |
|
2013 |
2013 |