MARFAN LIPODYSTROPHY SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.710 |
None |
1.000 |
12 |
27
|
1992 |
2016 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
24
|
0.700 |
strong |
1.000 |
9 |
24
|
1992 |
2010 |
Stiff Skin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
26
|
0.730 |
strong |
1.000 |
5 |
26
|
1995 |
2015 |
GELEOPHYSIC DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.610 |
strong |
1.000 |
5 |
27
|
1995 |
2016 |
Marfanoid hypermobility syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2009 |
Congenital eventration of diaphragm
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Congenital connective tissue disorder
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Peripheral artery dissection
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Descending thoracic aortic dissection
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebrospinal Fluid Hypovolemia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Incisional hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital dilatation of pulmonary artery
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Premature calcification of mitral annulus
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
GEMSS syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Medial rotation of the medial malleolus
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
MARFAN SYNDROME, SEVERE CLASSIC
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
MARFAN SYNDROME, MILD VARIABLE
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
MARFAN SYNDROME, ATYPICAL
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
MARFAN SYNDROME, MILD
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
MARFAN SYNDROME, AUTOSOMAL RECESSIVE
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal maternal serum screening
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Bilateral hallux valgus
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Familial ectopia lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
2
|
|
0.330 |
None |
1.000 |
3 |
|
1997 |
2016 |
Megacalycosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Multi vessel coronary artery disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |