INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
21
|
0.700 |
strong |
1.000 |
5 |
21
|
2000 |
2014 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
15 |
4
|
2000 |
2018 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.140 |
None |
1.000 |
4 |
2
|
2013 |
2018 |
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.130 |
None |
1.000 |
3 |
|
2007 |
2015 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Myopathic facies
|
phenotype |
|
Finding
|
44
|
15
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Neck muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle fiber inclusion bodies
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.060 |
None |
0.833 |
6 |
|
2012 |
2019 |
External Ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
6
|
0.060 |
None |
1.000 |
6 |
|
2007 |
2016 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
SEBASTIAN SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
13
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2016 |
Inclusion body myopathy, autosomal dominant
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.030 |
None |
1.000 |
3 |
1
|
2002 |
2012 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.030 |
None |
1.000 |
3 |
1
|
2013 |
2017 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.030 |
None |
1.000 |
3 |
1
|
2002 |
2014 |
May-Hegglin anomaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
19
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2002 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.030 |
None |
0.667 |
3 |
|
2008 |
2017 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.030 |
None |
1.000 |
3 |
1
|
2002 |
2014 |