|
1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000230)
|
Gingivitis |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0000080)
|
Abnormality of reproductive system physiology |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
7
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
9
|
(OMIM)
|
Ocular dominance |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
11
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|