MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
disease |
|
Disease or Syndrome
|
3
|
5
|
0.700 |
None |
1.000 |
6 |
4
|
2011 |
2019 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Refractive Errors
|
group |
Eye Diseases
|
Disease or Syndrome
|
71
|
75
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
803
|
63
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bilateral inguinal hernia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Geroderma osteodysplastica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Liver and Intrahepatic Biliary Tract Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1395
|
73
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1649
|
88
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Instability of atlantooccipital joint
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Mitral Valve Prolapse Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
29
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Contracture of joint
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
36
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |