polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Abnormality of abdomen morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Microsatellite Instability
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Replication Error Phenotype
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
31
|
|
0.520 |
definitive |
1.000 |
12 |
|
1995 |
2015 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
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 |
0.977 |
128 |
4
|
1988 |
2020 |
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 |
0.968 |
31 |
8
|
1997 |
2019 |
Constitutional Mismatch Repair Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
6
|
1
|
0.340 |
definitive |
1.000 |
16 |
|
1997 |
2019 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.060 |
None |
1.000 |
6 |
|
2000 |
2014 |
MOHR-TRANEBJAERG SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
89
|
19
|
0.050 |
None |
1.000 |
5 |
1
|
2007 |
2017 |
Marinesco-Sjogren syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
133
|
8
|
0.030 |
None |
1.000 |
3 |
|
2004 |
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 |
|
2002 |
2017 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2003 |
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 |
Skin lesion
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
563
|
52
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2016 |
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 |
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
340
|
11
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Barrett Esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
478
|
60
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Endometriosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1188
|
274
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
2015 |
2015 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |