NONAKA MYOPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
132
|
81
|
0.800 |
None |
1.000 |
103 |
76
|
2001 |
2019 |
Sialuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
17
|
0.760 |
strong |
1.000 |
40 |
14
|
1989 |
2017 |
Inclusion Body Myopathy, Autosomal Recessive
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.540 |
None |
1.000 |
5 |
|
2002 |
2005 |
Distal Muscular Dystrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
18
|
0.370 |
strong |
1.000 |
8 |
|
2002 |
2018 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
44
|
0.360 |
None |
1.000 |
6 |
1
|
2002 |
2017 |
Inclusion Body Myositis (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
87
|
1
|
0.310 |
None |
0.500 |
2 |
|
2007 |
2015 |
Inclusion Body Myopathy, Sporadic
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
84
|
5
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2015 |
Infantile Sialic Acid Storage Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
6
|
0.310 |
None |
1.000 |
1 |
|
2003 |
2003 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
21 |
4
|
2001 |
2019 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.110 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Shoulder girdle muscle atrophy
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Limited shoulder movement
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Thoracic hypoplasia
|
disease |
|
Congenital Abnormality
|
32
|
16
|
0.100 |
None |
|
0 |
|
|
|
Upper airway obstruction
|
disease |
|
Finding
|
16
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the mitochondrion
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|