Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Anastomosis
|
disease |
|
Acquired Abnormality
|
155
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Mitochondrial abnormalities
|
disease |
|
Anatomical Abnormality
|
83
|
20
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Arteriovenous fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
93
|
8
|
0.200 |
None |
1.000 |
1 |
|
1999 |
1999 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2007 |
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
29
|
140
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2017 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital hernia of foramen of Morgagni
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
19
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital hernia of foramen of Bochdalek
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
21
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Right ventricular dilatation
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.100 |
None |
|
0 |
|
|
|
Transitional atrioventricular canal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
48
|
1.000 |
definitive |
1.000 |
87 |
47
|
1989 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
0.985 |
68 |
8
|
1988 |
2019 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.600 |
strong |
1.000 |
46 |
3
|
1992 |
2019 |
Myofibrillar Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
61
|
24
|
0.700 |
None |
1.000 |
37 |
7
|
1999 |
2019 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.400 |
None |
1.000 |
32 |
9
|
1996 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.600 |
strong |
1.000 |
15 |
|
1999 |
2020 |
Disorder of skeletal muscle
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
10
|
0.100 |
None |
1.000 |
13 |
4
|
1994 |
2018 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.130 |
None |
1.000 |
12 |
4
|
1995 |
2013 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.100 |
None |
0.818 |
11 |
5
|
1999 |
2019 |