OSLER-RENDU-WEBER SYNDROME 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
91
|
0.760 |
definitive |
1.000 |
74 |
91
|
1996 |
2018 |
Hereditary hemorrhagic telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
81
|
0.600 |
None |
1.000 |
73 |
|
1996 |
2019 |
Familial primary pulmonary hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
2
|
0.560 |
strong |
1.000 |
10 |
|
2010 |
2017 |
Pulmonary Hypertension
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
156
|
|
0.510 |
None |
1.000 |
3 |
|
2003 |
2016 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.500 |
strong |
0.971 |
34 |
1
|
2001 |
2020 |
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.500 |
strong |
0.909 |
11 |
2
|
2002 |
2019 |
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
32
|
0.420 |
None |
1.000 |
15 |
4
|
2004 |
2014 |
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
32
|
0.400 |
definitive |
1.000 |
24 |
27
|
1996 |
2015 |
Pulmonary arteriovenous malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
4
|
1
|
0.400 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Arteriovenous malformation of liver
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
|
0.400 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Pulmonary Arteriovenous Fistulas
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
|
0.400 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Congenital pulmonary arteriovenous malformation
|
disease |
Respiratory Tract Diseases
|
Congenital Abnormality
|
4
|
|
0.400 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.400 |
strong |
1.000 |
1 |
1
|
2003 |
2003 |
Telangiectasis
|
disease |
Cardiovascular Diseases
|
Finding
|
43
|
|
0.340 |
strong |
1.000 |
4 |
|
2002 |
2008 |
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.310 |
strong |
1.000 |
2 |
|
2006 |
2006 |
Familial pulmonary arterial hypertension
|
disease |
|
Disease or Syndrome
|
12
|
1
|
0.300 |
None |
1.000 |
5 |
|
2012 |
2014 |
Pulmonary Arterial Remodeling
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organ or Tissue Function
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Vascular Remodeling
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organ or Tissue Function
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Transient Ischemic Attack
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
344
|
16
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
14
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.300 |
strong |
1.000 |
1 |
|
2006 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
Intracranial Arteriovenous Malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
11
|
|
0.200 |
None |
|
0 |
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.170 |
None |
1.000 |
7 |
|
2001 |
2019 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.130 |
None |
1.000 |
3 |
|
2017 |
2018 |