Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.020 |
None |
0.500 |
2 |
|
2009 |
2010 |
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cavovarus deformity of foot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Anatomical Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abnormality of the foot musculature
|
phenotype |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
29
|
140
|
0.350 |
None |
1.000 |
6 |
|
2007 |
2018 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital pes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
15
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.900 |
limited |
0.982 |
56 |
9
|
2005 |
2019 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
13
|
0.710 |
None |
1.000 |
38 |
13
|
2005 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.200 |
None |
0.964 |
28 |
3
|
2005 |
2019 |
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.700 |
definitive |
0.958 |
24 |
1
|
2005 |
2019 |
Myopathy, Centronuclear, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.710 |
None |
1.000 |
18 |
11
|
2005 |
2016 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.100 |
None |
0.933 |
15 |
2
|
2007 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
11 |
1
|
2007 |
2019 |
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.370 |
None |
1.000 |
8 |
|
2005 |
2018 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.070 |
None |
1.000 |
7 |
|
2010 |
2019 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.050 |
None |
1.000 |
5 |
|
2010 |
2013 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2013 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2014 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.710 |
strong |
1.000 |
3 |
1
|
2005 |
2018 |