Mydriasis, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
1
|
|
0.030 |
None |
0.667 |
3 |
|
2012 |
2017 |
Hypotonic bladder disorder
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Brachial artery occlusion
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Increased peristalsis
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal infarction
|
disease |
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of cerebrovascular system
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Iris flocculi
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Cystic medial necrosis of aorta
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adenosine Deaminase 2 Deficiency
|
disease |
Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aortic Aneurysm, Familial Thoracic 2
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
LUNG CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
2
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
16
|
0.700 |
None |
1.000 |
26 |
16
|
2007 |
2017 |
MOYAMOYA DISEASE 5
|
disease |
|
Disease or Syndrome
|
3
|
3
|
0.700 |
None |
1.000 |
4 |
3
|
2007 |
2016 |
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
|
disease |
|
Disease or Syndrome
|
4
|
1
|
0.780 |
None |
1.000 |
16 |
1
|
2007 |
2019 |
Gillespie syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Periventricular white matter hyperdensities
|
phenotype |
|
Pathologic Function
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Fetal megacystis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
5
|
4
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Occlusive vascular disease
|
disease |
|
Disease or Syndrome
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neonatal stroke
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Degenerative mitral valve disease
|
disease |
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Apical hypertrophic cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Moyamoya phenomenon
|
disease |
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Aortic Aneurysm, Thoracoabdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Copper-Overload Cirrhosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Nephrogenic Fibrosing Dermopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |