|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
6
|
(HPO:0007495)
|
Prematurely aged appearance |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
8
|
(HPO:0001805)
|
Thick nail |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
10
|
(HPO:0007438)
|
Mottled pigmentation of the trunk and proximal extremities |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0007494)
|
Discrete 2 to 5-mm hyper- and hypopigmented macules |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0007530)
|
Punctate palmoplantar hyperkeratosis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Epidermolysis bullosa simplex |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Blistering at acral sites |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Degeneration of basal epidermal cells |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Basal cell layer contains clumped keratin filaments |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
18
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
19
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|