CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
22
|
0.700 |
limited |
1.000 |
4 |
2
|
2005 |
2015 |
Truncus Arteriosus, Persistent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
76
|
4
|
0.600 |
None |
1.000 |
2 |
1
|
2005 |
2014 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
1
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Preauricular dimple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Atrioventricular Septal Defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
58
|
19
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nasal morphology
|
disease |
|
Anatomical Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Underdeveloped supraorbital ridges
|
phenotype |
|
Finding
|
53
|
2
|
0.100 |
None |
|
0 |
|
|
|
Broad hallux
|
phenotype |
|
Finding
|
48
|
14
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Aortic coarctation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
88
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Double Outlet Right Ventricle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
48
|
16
|
0.100 |
None |
|
0 |
|
|
|
Exophthalmos
|
disease |
Eye Diseases
|
Disease or Syndrome
|
225
|
12
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.100 |
None |
|
0 |
|
|
|
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
61
|
21
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital absence of thymus
|
disease |
Immune System Diseases
|
Congenital Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |