Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
11
|
1.000 |
None |
1.000 |
23 |
11
|
1996 |
2017 |
Epidermolysis bullosa simplex, Ogna type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
9
|
0.900 |
None |
1.000 |
8 |
7
|
1996 |
2013 |
Epidermolysis Bullosa Simplex With Pyloric Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
9
|
0.730 |
None |
1.000 |
8 |
9
|
1996 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.710 |
None |
1.000 |
9 |
6
|
1996 |
2017 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.410 |
None |
1.000 |
1 |
|
2019 |
2019 |
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.400 |
None |
1.000 |
5 |
6
|
1996 |
2013 |
Epidermolysis bullosa with pyloric atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
7
|
17
|
0.340 |
None |
1.000 |
4 |
|
2005 |
2016 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
40
|
0.330 |
strong |
1.000 |
4 |
|
2011 |
2019 |
Myasthenic Syndrome
|
disease |
|
Disease or Syndrome
|
12
|
|
0.320 |
strong |
1.000 |
3 |
|
2010 |
2015 |
Lambert-Eaton Myasthenic Syndrome
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
1
|
0.320 |
strong |
1.000 |
3 |
|
2010 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.320 |
strong |
1.000 |
2 |
|
2015 |
2017 |
Epidermolysis Bullosa Simplex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
30
|
33
|
0.300 |
None |
1.000 |
29 |
|
1991 |
2019 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.200 |
None |
1.000 |
30 |
|
1996 |
2019 |
Osteoarthritis of hip
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
164
|
121
|
0.110 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.110 |
None |
1.000 |
1 |
2
|
1997 |
1997 |
Epidermolysis Bullosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
47
|
3
|
0.100 |
None |
1.000 |
20 |
|
1979 |
2019 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
5 |
4
|
2010 |
2018 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
5 |
3
|
2010 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
3 |
2
|
2014 |
2019 |
Fibrinogen assay
|
phenotype |
|
Laboratory Procedure
|
55
|
143
|
0.100 |
None |
1.000 |
3 |
2
|
2013 |
2017 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
2 |
1
|
2010 |
2013 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
2 |
2
|
2011 |
2016 |
Forced expiratory volume function
|
phenotype |
|
Organ or Tissue Function
|
272
|
1169
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Fibrinogen, CTCAE
|
phenotype |
|
Finding
|
26
|
63
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Lean body mass
|
phenotype |
|
Clinical Attribute
|
144
|
211
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |