Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
124
|
27
|
1.000 |
definitive |
0.986 |
389 |
20
|
1973 |
2020 |
Weill-Marchesani Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.910 |
None |
1.000 |
1 |
|
1992 |
2014 |
Weill-Marchesani syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
3
|
0.900 |
limited |
1.000 |
13 |
1
|
1996 |
2018 |
Acromicric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
7
|
4
|
0.790 |
strong |
1.000 |
9 |
1
|
1995 |
2018 |
Stiff Skin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.730 |
strong |
1.000 |
3 |
|
1995 |
2015 |
MARFAN LIPODYSTROPHY SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.710 |
None |
1.000 |
1 |
|
1992 |
2016 |
Ectopia Lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
12
|
10
|
0.700 |
None |
1.000 |
37 |
6
|
1994 |
2020 |
Geleophysic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
9
|
1
|
0.700 |
None |
1.000 |
11 |
|
2011 |
2019 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
36
|
5
|
0.650 |
None |
1.000 |
5 |
|
1992 |
2019 |
GELEOPHYSIC DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
1
|
|
0.610 |
strong |
1.000 |
1 |
|
1995 |
2016 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
3
|
0.530 |
strong |
1.000 |
3 |
|
1993 |
2018 |
Marfan Syndrome, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
|
0.530 |
None |
1.000 |
3 |
|
1992 |
2012 |
Neonatal Marfan syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
1
|
0.500 |
None |
1.000 |
12 |
1
|
1994 |
2017 |
Aortic Aneurysm, Thoracic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
34
|
|
0.460 |
None |
1.000 |
6 |
|
2002 |
2018 |
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
1
|
0.450 |
None |
1.000 |
5 |
1
|
1994 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2694
|
1598
|
0.400 |
None |
1.000 |
10 |
|
2008 |
2019 |
Ectopia lentis isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
5
|
3
|
0.400 |
None |
1.000 |
10 |
3
|
2002 |
2015 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1973
|
871
|
0.370 |
None |
1.000 |
7 |
5
|
2006 |
2019 |
Familial ectopia lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.330 |
None |
1.000 |
3 |
|
1997 |
2016 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
492
|
59
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2019 |
Aortic Rupture
|
disease |
Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
20
|
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2016 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
904
|
157
|
0.300 |
None |
0.971 |
11 |
|
1980 |
2013 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
168
|
14
|
0.200 |
None |
1.000 |
38 |
1
|
1993 |
2020 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
229
|
17
|
0.200 |
None |
1.000 |
12 |
6
|
1997 |
2020 |
Dilatation of aorta
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
|
0.200 |
None |
0.909 |
11 |
|
2008 |
2018 |