Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormal bone formation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Acquired Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Superficial ulcer
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
242
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Middle Cerebral Artery Occlusion
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Acquired Abnormality
|
626
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Orthokeratinized odontogenic cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Short telomere length
|
phenotype |
|
Anatomical Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Calvarial skull defect
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.700 |
None |
0.955 |
22 |
3
|
2005 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
19 |
3
|
1999 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
19 |
1
|
1999 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.400 |
None |
1.000 |
12 |
2
|
2005 |
2019 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.090 |
None |
0.889 |
9 |
|
2013 |
2018 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.190 |
None |
0.889 |
9 |
|
2013 |
2018 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2020 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.120 |
None |
1.000 |
3 |
1
|
2009 |
2019 |
Alagille Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
38
|
18
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2013 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2018 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.020 |
None |
0.500 |
2 |
|
2016 |
2019 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aortic coarctation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
88
|
6
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Congenital arteriovenous malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
163
|
23
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |