|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000613)
|
Photophobia |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
3
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
4
|
(OMIM)
|
Clear gelatinous pterygia-like plaques of the nasal and temporal perilimbal bulbar conjunctiva |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Lesions may involve cornea (in some patients) |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Extensive lesions may impair vision (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Dilated superficial vessels give 'red eye' appearance |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Asymptomatic (easy bruisability, postoperative hemorrhage) |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Irritation of eye with itching (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Excessive lacrimation (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Oral mucous membrane dyskeratosis resembling leukoplakia (may be in any part of oral cavity) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Thick soft white papules and plaques of variable size (may be in any part of oral cavity) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|