MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Contracture of joint
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
36
|
|
0.300 |
limited |
1.000 |
1 |
|
2014 |
2014 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
|
0 |
1
|
|
|
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.170 |
None |
1.000 |
7 |
|
2013 |
2020 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Glaucoma, Open-Angle
|
disease |
Eye Diseases
|
Disease or Syndrome
|
130
|
236
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle fiber atrophy
|
phenotype |
|
Cell or Molecular Dysfunction
|
25
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
44
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Urinary Incontinence
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
151
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal lactate dehydrogenase activity
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Increased endomysial connective tissue
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated aldolase level
|
phenotype |
|
Finding
|
5
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2016 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2016 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2020 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |