Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cranial nerves
|
disease |
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cervical C3/C4 vertebral fusion
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal temporal bone morphology
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vertebral segmentation and fusion
|
disease |
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sacrum morphology
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Cervical C5/C6 vertebrae fusion
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the shoulder
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital scoliosis
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
139
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.100 |
None |
|
0 |
|
|
|
Congenital torticollis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Congenital Abnormality
|
19
|
6
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Neck webbing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
78
|
19
|
0.100 |
None |
|
0 |
|
|
|
Fundus coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
57
|
2
|
0.100 |
None |
|
0 |
|
|
|
Ectopic anus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|