Iniencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hereditary Diffuse Gastric Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
312
|
119
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
47
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neurenteric Cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Acrania
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.160 |
None |
0.833 |
6 |
1
|
2010 |
2018 |
Hydronephrosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
253
|
18
|
0.130 |
None |
1.000 |
3 |
|
2013 |
2018 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.120 |
None |
0.500 |
2 |
|
2010 |
2011 |
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.120 |
None |
1.000 |
2 |
|
2012 |
2017 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.110 |
None |
1.000 |
2 |
7
|
2017 |
2017 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.110 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Polydactyly preaxial type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
|
0.110 |
None |
1.000 |
1 |
|
2005 |
2005 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
139
|
9
|
0.110 |
None |
1.000 |
1 |
|
2001 |
2001 |
Arhinencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
35
|
|
0.110 |
None |
1.000 |
1 |
|
1995 |
1995 |
Congenital hemivertebra
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
4
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Radial polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
51
|
3
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Memory performance
|
phenotype |
|
Mental Process
|
40
|
71
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |