SCLEROSTEOSIS 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.820 |
None |
0.667 |
3 |
3
|
2011 |
2018 |
Syndactyly Cenani Lenz type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
9
|
0.780 |
None |
0.889 |
9 |
9
|
2003 |
2020 |
Sclerosteosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
3
|
0.740 |
None |
1.000 |
5 |
2
|
2011 |
2018 |
MYASTHENIC SYNDROME, CONGENITAL, 17
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
2 |
2
|
2014 |
2015 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
40
|
0.520 |
strong |
1.000 |
3 |
|
2014 |
2015 |
Congenital Myasthenic Syndromes, Postsynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.500 |
None |
1.000 |
1 |
|
2014 |
2014 |
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.460 |
None |
0.857 |
7 |
|
2005 |
2020 |
Polysyndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
12
|
1
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Odontome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Myasthenic Syndromes, Congenital, Slow Channel
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
strong |
|
0 |
|
|
|
Congenital Myasthenic Syndromes, Presynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
|
0 |
|
|
|
Hyperostosis of skull
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.200 |
None |
|
0 |
|
|
|
Osteosclerosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
1
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myasthenia Gravis
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
336
|
93
|
0.100 |
None |
0.938 |
16 |
|
2011 |
2019 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
1-5 finger syndactyly
|
disease |
|
Congenital Abnormality
|
3
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Venous Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
378
|
408
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
von Willebrand's factor (lab test)
|
phenotype |
|
Laboratory Procedure
|
55
|
427
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Diaphyseal thickening
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|