Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
130
|
1012
|
1.000 |
definitive |
0.986 |
518 |
1000
|
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
|
3
|
23
|
0.910 |
None |
1.000 |
7 |
23
|
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
|
4
|
0.900 |
limited |
1.000 |
15 |
2
|
1996 |
2018 |
Acromicric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
31
|
0.790 |
strong |
1.000 |
11 |
28
|
1995 |
2018 |
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 |
MARFAN LIPODYSTROPHY SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.710 |
None |
1.000 |
12 |
27
|
1992 |
2016 |
Ectopia Lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
34
|
17
|
0.700 |
None |
1.000 |
39 |
12
|
1994 |
2020 |
Geleophysic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
10
|
7
|
0.700 |
None |
1.000 |
13 |
1
|
2011 |
2019 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
24
|
0.700 |
strong |
1.000 |
9 |
24
|
1992 |
2010 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
36
|
31
|
0.650 |
None |
1.000 |
10 |
26
|
1992 |
2019 |
GELEOPHYSIC DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.610 |
strong |
1.000 |
5 |
27
|
1995 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.600 |
definitive |
1.000 |
158 |
361
|
1973 |
2019 |
Marfan Syndrome, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.530 |
None |
1.000 |
10 |
|
1992 |
2012 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
61
|
21
|
0.530 |
strong |
1.000 |
7 |
|
1993 |
2018 |
Neonatal Marfan syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
8
|
0.500 |
None |
1.000 |
13 |
8
|
1994 |
2017 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.500 |
None |
1.000 |
2 |
|
2004 |
2016 |
Weill-Marchesani Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.500 |
None |
1.000 |
1 |
|
2012 |
2012 |
Aortic Aneurysm, Thoracic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
41
|
60
|
0.460 |
None |
1.000 |
8 |
36
|
2002 |
2018 |
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
102
|
25
|
0.450 |
None |
1.000 |
6 |
15
|
1994 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.400 |
None |
1.000 |
11 |
|
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
|
2322
|
1085
|
0.370 |
None |
1.000 |
8 |
5
|
2006 |
2019 |
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 |
Aortic Rupture
|
disease |
Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
22
|
|
0.310 |
None |
1.000 |
2 |
|
2008 |
2016 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.310 |
None |
1.000 |
2 |
|
2010 |
2019 |