Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Colonic Polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
69
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Polycystic Kidney - body part
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
54
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Abnormality of macular pigmentation
|
disease |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal choroid morphology
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal foveal morphology
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary macular dystrophy
|
disease |
|
Congenital Abnormality
|
39
|
10
|
0.060 |
None |
1.000 |
6 |
3
|
2010 |
2017 |
Biliary Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
184
|
32
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2020 |
Congenital atresia of extrahepatic bile duct
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
172
|
19
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2020 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Bull's eye macular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2008 |
2010 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
limited |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Central Serous Chorioretinopathy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
211
|
10
|
0.100 |
None |
0.923 |
13 |
|
2010 |
2019 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.190 |
None |
1.000 |
9 |
|
2009 |
2019 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.080 |
None |
0.875 |
8 |
|
2008 |
2016 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.110 |
None |
1.000 |
8 |
11
|
2008 |
2016 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.080 |
None |
1.000 |
8 |
|
2014 |
2019 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.480 |
None |
1.000 |
8 |
1
|
2009 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.180 |
None |
1.000 |
8 |
2
|
2009 |
2019 |