Colonic Polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
69
|
8
|
0.110 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Abnormality of abdomen morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
31
|
|
0.500 |
definitive |
1.000 |
10 |
|
1994 |
2015 |
Cardiac diverticulum
|
disease |
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Lynch Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
103
|
65
|
0.700 |
definitive |
0.973 |
111 |
7
|
1994 |
2020 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
50
|
0.700 |
None |
1.000 |
48 |
49
|
1995 |
2017 |
Turcot syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
77
|
75
|
0.800 |
definitive |
0.978 |
45 |
34
|
1995 |
2020 |
Constitutional Mismatch Repair Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
6
|
1
|
0.560 |
definitive |
1.000 |
17 |
1
|
1998 |
2017 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2017 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2013 |
Marinesco-Sjogren syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
133
|
8
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2010 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2014 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2013 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.010 |
None |
1.000 |
1 |
6
|
2012 |
2012 |
Barrett Esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
478
|
60
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hyperaldosteronism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
84
|
6
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
516
|
146
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alcoholic Liver Diseases
|
group |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
195
|
20
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lupus Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
503
|
64
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |