Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anastomosis
|
disease |
|
Acquired Abnormality
|
155
|
2
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Colonic Polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
69
|
8
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2014 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2014 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
PATENT DUCTUS ARTERIOSUS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
229
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.350 |
None |
1.000 |
12 |
2
|
2002 |
2019 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.070 |
None |
0.857 |
7 |
1
|
2008 |
2020 |
Ankylosing spondylitis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
710
|
609
|
0.370 |
None |
0.857 |
7 |
2
|
2011 |
2018 |
Infection caused by Helicobacter pylori
|
disease |
Infections
|
Disease or Syndrome
|
337
|
56
|
0.070 |
None |
1.000 |
7 |
|
2008 |
2013 |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
|
disease |
|
Disease or Syndrome
|
593
|
24
|
0.060 |
None |
1.000 |
6 |
1
|
2008 |
2018 |
Intestinal metaplasia
|
phenotype |
|
Disease or Syndrome
|
266
|
24
|
0.040 |
None |
1.000 |
4 |
|
2004 |
2012 |
Barrett Esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
478
|
60
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2020 |
Gastritis, Atrophic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
203
|
61
|
0.030 |
None |
0.667 |
3 |
2
|
2009 |
2016 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.230 |
None |
0.667 |
3 |
|
2004 |
2011 |
Psoriasis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1308
|
705
|
0.320 |
None |
1.000 |
3 |
1
|
2012 |
2016 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.020 |
None |
0.500 |
2 |
|
2008 |
2011 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.020 |
None |
0.500 |
2 |
|
2014 |
2017 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2020 |
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2017 |