Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Tumor-Associated Vasculature
|
disease |
|
Acquired Abnormality
|
84
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Epithelial inclusion cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Anatomical Abnormality
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Wallerian Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
1997 |
1997 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.070 |
None |
1.000 |
7 |
|
2010 |
2018 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.060 |
None |
0.833 |
6 |
|
2001 |
2015 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.060 |
None |
0.833 |
6 |
|
2001 |
2015 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2017 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2018 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Congenital absence of liver
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
25
|
2
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
PATENT DUCTUS ARTERIOSUS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
229
|
12
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital duplication of intestine
|
disease |
|
Congenital Abnormality
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
HER2 gene amplification
|
disease |
|
Disease or Syndrome
|
170
|
14
|
0.100 |
None |
0.921 |
508 |
4
|
1989 |
2020 |
Bone Cysts, Aneurysmal
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
79
|
5
|
0.100 |
None |
1.000 |
45 |
|
2009 |
2020 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.100 |
None |
0.975 |
40 |
|
2001 |
2019 |
Trigeminal Neuralgia
|
disease |
Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
107
|
1
|
0.100 |
None |
0.931 |
29 |
|
2010 |
2020 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.100 |
None |
1.000 |
16 |
|
1999 |
2019 |
Sentinel node (disorder)
|
disease |
|
Disease or Syndrome
|
130
|
5
|
0.100 |
None |
1.000 |
16 |
|
2006 |
2020 |
Barrett Esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
478
|
60
|
0.100 |
None |
1.000 |
13 |
|
1993 |
2017 |