1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
4
|
(HPO:0007587)
|
Numerous pigmented freckles |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
5
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
6
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
7
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
8
|
(HPO:0001029)
|
Poikiloderma |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
9
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
10
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
11
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
12
|
(HPO:0000621)
|
Entropion |
|
|
|
|
12 / 7739
|
13
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
14
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
15
|
(HPO:0002860)
|
Squamous cell carcinoma |
|
|
|
|
18 / 7739
|
16
|
(HPO:0012056)
|
Cutaneous melanoma |
|
|
|
|
10 / 7739
|
17
|
(OMIM)
|
Normal DNA repair after ultraviolet radiation |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Defect in recovery of post-UV DNA synthesis |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
damage. Inheritance: Autosomal recessive |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Early onset skin cancer (basal cell, squamous cell and malignant melanoma) |
|
|
|
|
6 / 7739
|
21
|
(OMIM)
|
Early freckle-like lesions in exposed areas |
|
|
|
|
6 / 7739
|
22
|
(OMIM)
|
Increased/decreased skin pigment |
|
|
|
|
5 / 7739
|
23
|
(OMIM)
|
Actinic keratoses |
|
|
|
|
6 / 7739
|
24
|
(HPO:0001048)
|
Cavernous hemangioma |
|
|
|
|
28 / 7739
|
25
|
(MedDRA:10023347)
|
Keratoacanthoma |
|
|
|
|
6 / 7739
|
26
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
27
|
(HPO:0012740)
|
Papilloma |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
28
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|