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 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.600 |
definitive |
1.000 |
158 |
361
|
1973 |
2019 |
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 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.200 |
None |
1.000 |
38 |
2
|
1993 |
2020 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.300 |
None |
0.971 |
34 |
|
1980 |
2013 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
29 |
2
|
1986 |
2016 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
29 |
2
|
1986 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
29 |
4
|
1986 |
2016 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
29 |
2
|
1986 |
2016 |
Other emphysema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Disease or Syndrome
|
20
|
|
0.200 |
None |
1.000 |
20 |
|
1980 |
2001 |
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 |
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 |
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 |
MARFAN LIPODYSTROPHY SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.710 |
None |
1.000 |
12 |
27
|
1992 |
2016 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.200 |
None |
1.000 |
12 |
8
|
1997 |
2020 |
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 |
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 |
Dilatation of aorta
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
2
|
0.200 |
None |
0.909 |
11 |
1
|
2008 |
2018 |
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 |
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 |
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 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.100 |
None |
1.000 |
10 |
|
2001 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
10 |
|
2005 |
2020 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
24
|
0.700 |
strong |
1.000 |
9 |
24
|
1992 |
2010 |
Dissection of aorta
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
152
|
16
|
0.190 |
None |
1.000 |
9 |
10
|
2009 |
2020 |