Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.620 |
None |
1.000 |
2 |
1
|
2017 |
2020 |
Mosaic variegated aneuploidy syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
10
|
20
|
0.500 |
None |
1.000 |
1 |
|
2017 |
2017 |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.340 |
None |
1.000 |
5 |
|
2017 |
2020 |
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
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 |
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 |
|
2017 |
2017 |
Germ cell tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
278
|
5
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neoplasms, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
2017 |
2017 |
Germ Cell Cancer
|
disease |
Neoplasms
|
Neoplastic Process
|
44
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cancer, Embryonal
|
phenotype |
Neoplasms
|
Neoplastic Process
|
18
|
|
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 |
Aneuploidy
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Embryonal Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
57
|
2
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2013 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
12 |
|
2014 |
2020 |
Duodenal atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
116
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.100 |
None |
|
0 |
|
|
|
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|