Porencephaly, Type 1, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
15
|
0.900 |
None |
1.000 |
18 |
15
|
1977 |
2018 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
18
|
0.770 |
None |
0.909 |
6 |
18
|
2007 |
2019 |
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
|
disease |
|
Disease or Syndrome
|
1
|
|
0.820 |
None |
1.000 |
4 |
|
2005 |
2013 |
AXENFELD-RIEGER SYNDROME, TYPE 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
2
|
27
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2010 |
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2006 |
2007 |
Hyalinosis, Segmental Glomerular
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2009 |
PORENCEPHALY, FAMILIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.830 |
None |
1.000 |
2 |
1
|
1977 |
2016 |
Rieger syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
3
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2010 |
Axenfeld syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2010 |
Congenital porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.600 |
None |
1.000 |
2 |
|
1977 |
2020 |
Post-traumatic Porencephaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Acquired Abnormality
|
2
|
|
0.500 |
None |
1.000 |
2 |
|
1977 |
2013 |
Porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.400 |
None |
1.000 |
2 |
|
1977 |
2020 |
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
44
|
33
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2016 |
Axenfeld-Rieger Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
15
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2010 |
Axenfeld-Rieger syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2010 |
Nodular glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
41
|
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2016 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
36
|
8
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2009 |
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
2
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2007 |
2012 |
Developmental Porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
1977 |
2013 |
Heart Failure, Diastolic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Familial vascular leukoencephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
1 |
|
2005 |
2013 |
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2006 |
2018 |
RETINAL ARTERIES, TORTUOSITY OF
|
phenotype |
|
Finding
|
1
|
1
|
0.700 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Familial schizencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
14
|
61
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |