|
1
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
|
2
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
3
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0000621)
|
Entropion |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
8
|
(HPO:0001029)
|
Poikiloderma |
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0002861)
|
Melanoma |
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0003079)
|
Defective DNA repair after ultraviolet radiation damage |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0006739)
|
Squamous cell carcinoma of the skin |
|
|
|
|
6 / 7739
|
|
14
|
(OMIM)
|
Early onset skin cancer (basal cell, squamous cell and malignant melanoma) |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
Early freckle-like lesions in exposed areas |
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Increased/decreased skin pigment |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Actinic keratoses |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0001048)
|
Cavernous hemangioma |
|
|
|
|
28 / 7739
|
|
19
|
(MedDRA:10023347)
|
Keratoacanthoma |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|