Abnormality iris morphology
|
disease |
|
Anatomical Abnormality
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the genital system
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
36
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the sense of smell
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the sternum
|
phenotype |
|
Anatomical Abnormality
|
46
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Aneurysm of aortic root
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
39
|
15
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of descending thoracic aorta
|
phenotype |
Cardiovascular Diseases
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
ANTERIOR SEGMENT DYSGENESIS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
1
|
0.500 |
None |
1.000 |
3 |
|
1986 |
2014 |
Anterior segment mesenchymal dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
2
|
0.520 |
strong |
1.000 |
3 |
|
2001 |
2016 |
Anterior segment of eye aplasia
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior synechiae
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Aortic Aneurysm, Abdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
586
|
90
|
0.100 |
None |
|
0 |
|
|
|
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
2
|
0.700 |
strong |
1.000 |
1 |
2
|
2016 |
2016 |
Aortic Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.100 |
None |
|
0 |
|
|
|
Aphakia
|
disease |
Eye Diseases
|
Anatomical Abnormality
|
5
|
3
|
0.040 |
None |
0.750 |
4 |
1
|
2010 |
2018 |
Aphakia, congenital primary
|
disease |
Eye Diseases
|
Congenital Abnormality
|
14
|
7
|
0.740 |
None |
1.000 |
10 |
5
|
1986 |
2016 |
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the iris
|
disease |
|
Anatomical Abnormality
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
102
|
25
|
0.100 |
None |
|
0 |
|
|
|