|
1
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
2
|
(HPO:0000498)
|
Blepharitis |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
4
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
5
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0009720)
|
Adenoma sebaceum |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0000787)
|
Nephrolithiasis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0001598)
|
Concave nail |
|
|
|
|
14 / 7739
|
|
9
|
(HPO:0001820)
|
Leukonychia |
|
|
|
|
18 / 7739
|
|
10
|
(OMIM)
|
Leukonychia totalis |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Leukonychia partialis |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Leukonychia striata |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Leukonychia punctata |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|