BETHLEM MYOPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
108
|
1.000 |
None |
1.000 |
51 |
33
|
1993 |
2019 |
Ullrich congenital muscular dystrophy 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
34
|
0.800 |
None |
0.960 |
25 |
10
|
2003 |
2018 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.480 |
None |
1.000 |
9 |
|
2002 |
2019 |
Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Lung Neoplasms
|
group |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
1486
|
39
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Early Pregnancy Loss
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Heart Failure, Diastolic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
55
|
9
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abortion, Tubal
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Miscarriage
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
426
|
56
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
11 |
2
|
2002 |
2019 |
Diverticular Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
83
|
88
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Distal joint laxity
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
2
|
|
|
Ankle contracture
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Bilateral talipes equinovarus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle fiber necrosis
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Nocturnal hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|