Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.030 |
None |
0.667 |
3 |
|
1987 |
1988 |
Distal Muscular Dystrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
18
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2015 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2013 |
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2017 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Angle Closure Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
94
|
56
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Primary angle-closure glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
87
|
55
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypoproteinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lymphatic Diseases
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
254
|
43
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Foot Drop
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Mucolipidosis Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
22
|
38
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
13
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Multiple Chronic Conditions
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
929
|
42
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Bilateral foot drop
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.100 |
None |
|
0 |
1
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|