Lipoid Proteinosis of Urbach and Wiethe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
5
|
16
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Epidermolysis bullosa inversa dystrophica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
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
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chromosome 21 monosomy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Junctional Epidermolysis Bullosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
9
|
0.010 |
None |
< 0.001 |
1 |
|
1994 |
1994 |
Rokitansky Kuster Hauser syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
27
|
3
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Aortic Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
43
|
2
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
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
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Fuchs Endothelial Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
94
|
32
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Pelvic Organ Prolapse
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
119
|
49
|
0.030 |
None |
0.667 |
3 |
|
2007 |
2012 |
Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
130
|
1012
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
|
phenotype |
|
Finding
|
165
|
368
|
0.100 |
None |
1.000 |
4 |
3
|
2013 |
2019 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
166
|
374
|
0.100 |
None |
1.000 |
4 |
3
|
2013 |
2019 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
|
disease |
|
Finding
|
166
|
370
|
0.100 |
None |
1.000 |
4 |
3
|
2013 |
2019 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
|
disease |
|
Finding
|
166
|
373
|
0.100 |
None |
1.000 |
4 |
3
|
2013 |
2019 |
Malignant neoplasm of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
173
|
375
|
0.100 |
None |
1.000 |
4 |
3
|
2013 |
2019 |
Anaplastic astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
202
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Carcinoma, Endometrioid
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
223
|
12
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Adenoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
452
|
213
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |