polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2015 |
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
55
|
14
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2019 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Clubbed Fingers
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
88
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad phalanx of the toes
|
phenotype |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2019 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2012 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.100 |
None |
|
0 |
|
|
|
Ebstein Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
3
|
0.200 |
None |
|
0 |
|
|
|
Microstomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Cardiac diverticulum
|
disease |
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
JUVENILE POLYPOSIS OF STOMACH
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
3
|
|
0.800 |
definitive |
1.000 |
5 |
|
2001 |
2009 |
Juvenile Polyposis Coli
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
9
|
|
0.800 |
definitive |
1.000 |
5 |
|
2001 |
2009 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2015 |
Hyperostosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
3
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |