Aortic aneurysm, familial thoracic 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
26
|
0.700 |
None |
1.000 |
16 |
26
|
2003 |
2017 |
Inguinal Hernia, Direct
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
1
|
4
|
0.600 |
None |
1.000 |
1 |
4
|
1998 |
1998 |
Loeys-Dietz Syndrome Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aneurysm of left subclavian artery
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Marfan Syndrome type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
1
|
0.350 |
None |
1.000 |
5 |
1
|
1996 |
2011 |
Vertebral artery aneurysm
|
disease |
Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Marfan Syndrome Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Loeys-Dietz Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Familial bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Uterine Rupture
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries
|
Pathologic Function
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary artery aneurysm
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized arterial tortuosity
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
|
0.730 |
None |
1.000 |
10 |
|
2004 |
2012 |
Loeys-Dietz Syndrome, Type 1a
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
10
|
0.400 |
None |
1.000 |
5 |
1
|
2004 |
2012 |
Dissection, Blood Vessel
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
5
|
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2006 |
Intracranial Hypotension
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cerebral Cavernous Malformations 1
|
disease |
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Eosinophilic infiltration of the esophagus
|
phenotype |
Digestive System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Larsen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
14
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Benign neoplasm of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
6
|
|
0.300 |
None |
|
0 |
|
|
|
Carcinoma in situ of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
6
|
|
0.300 |
None |
|
0 |
|
|
|
Inguinal Hernia, Indirect
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
7
|
2
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Ascending aortic dilatation
|
phenotype |
|
Anatomical Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cervical Migraine Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |