|
1
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|
|
2
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0100825)
|
Cheilitis |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
4
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
5
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
7
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
11
|
(OMIM)
|
Dystrophic epidermolysis bullosa |
|
|
|
|
6 / 7739
|
|
12
|
(OMIM)
|
Mild atrophic scarring |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Sublamina densa level of tissue separation beneath basal membrane |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Decreased number of anchoring fibrils at dermal-epidermal junction |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Hypotrophic anchoring fibrils |
|
|
|
|
5 / 7739
|
|
16
|
(OMIM)
|
Retention of COL7A1 within endoplasmic reticulum in epidermal keratinocytes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased staining for collagen VII at the dermal-epidermal junction |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Anchoring fibrils revert to normal with clinical resolution of the disease |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|