MYOTONIC DYSTROPHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
179
|
14
|
0.700 |
None |
0.981 |
52 |
1
|
1992 |
2019 |
Myotonic Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
155
|
4
|
0.600 |
None |
0.981 |
208 |
|
1992 |
2020 |
Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
19
|
7
|
0.600 |
limited |
1.000 |
1 |
|
2013 |
2013 |
Dystrophia myotonica 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
21
|
0.370 |
None |
1.000 |
8 |
|
1999 |
2015 |
Congenital Myotonic Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.360 |
None |
1.000 |
7 |
|
1996 |
2019 |
Myotonic Phenomenon
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Percussion Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Small cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
972
|
125
|
0.300 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.130 |
None |
1.000 |
3 |
|
1999 |
2007 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.120 |
None |
1.000 |
2 |
|
1994 |
2002 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.100 |
None |
1.000 |
19 |
|
1996 |
2019 |
Excessive daytime sleepiness
|
phenotype |
|
Sign or Symptom
|
46
|
5
|
0.100 |
None |
|
0 |
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cholelithiasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
252
|
90
|
0.100 |
None |
|
0 |
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hernia of abdominal wall
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
|
|
|
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
First degree atrioventricular block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Atrophy of testis
|
disease |
Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|