Mosaic variegated aneuploidy syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
10
|
20
|
1.000 |
definitive |
1.000 |
14 |
18
|
2004 |
2019 |
PREMATURE CHROMATID SEPARATION TRAIT
|
disease |
|
Disease or Syndrome
|
19
|
10
|
0.640 |
None |
1.000 |
4 |
9
|
2006 |
2014 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.540 |
None |
1.000 |
4 |
1
|
2002 |
2016 |
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.420 |
None |
1.000 |
2 |
|
2006 |
2012 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.410 |
None |
1.000 |
2 |
|
2004 |
2019 |
mosaic variegated aneuploidy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
7
|
|
0.400 |
limited |
1.000 |
13 |
|
2006 |
2020 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.330 |
None |
0.750 |
4 |
|
2002 |
2018 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1296
|
609
|
0.330 |
None |
1.000 |
3 |
|
2002 |
2009 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.330 |
None |
1.000 |
3 |
|
2008 |
2018 |
Embryonal Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
121
|
8
|
0.320 |
None |
1.000 |
2 |
|
2004 |
2006 |
Warburton Anyane Yeboa syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Neoplasms, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Germ cell tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
278
|
5
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Chromosomal mosaicism due to mitotic instability
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Cell or Molecular Dysfunction
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Germ Cell Cancer
|
disease |
Neoplasms
|
Neoplastic Process
|
44
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Cancer, Embryonal
|
phenotype |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cancer, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Embryonal Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
57
|
2
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neoplasms, Germ Cell and Embryonal
|
group |
Neoplasms
|
Neoplastic Process
|
34
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.130 |
None |
1.000 |
3 |
|
2003 |
2014 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.120 |
None |
1.000 |
2 |
|
2019 |
2019 |
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |