Loeys-Dietz Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
35
|
0.890 |
strong |
1.000 |
10 |
5
|
2012 |
2018 |
LOEYS-DIETZ SYNDROME 4
|
disease |
|
Disease or Syndrome
|
3
|
21
|
0.600 |
None |
1.000 |
4 |
11
|
2012 |
2018 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.600 |
definitive |
1.000 |
3 |
|
2012 |
2014 |
Loeys-Dietz Aortic Aneurysm Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
|
0.500 |
None |
1.000 |
1 |
|
2012 |
2012 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.400 |
None |
1.000 |
12 |
|
2007 |
2019 |
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.400 |
None |
1.000 |
1 |
|
2011 |
2011 |
Endometriosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1188
|
274
|
0.330 |
None |
0.750 |
4 |
|
2011 |
2018 |
Aortic Aneurysm, Thoracic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
41
|
60
|
0.310 |
None |
1.000 |
3 |
|
2012 |
2014 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.310 |
None |
1.000 |
2 |
|
1997 |
2013 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.310 |
None |
1.000 |
2 |
|
1999 |
2014 |
Ureteral obstruction
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
359
|
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2016 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2017 |
Aortic Aneurysm, Thoracoabdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Congenital abnormality of respiratory system
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Congenital musculoskeletal anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Limb Deformities, Congenital
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
59
|
4
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Pulmonary Emphysema
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
352
|
64
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Cholangitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
80
|
1
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
54
|
2
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Endometrioma
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
279
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Urogenital Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
42
|
3
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Malignant mesothelioma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
420
|
12
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |