|
1
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
3
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
4
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
5
|
(HPO:0007585)
|
Skin fragility with non-scarring blistering |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0008401)
|
Onychogryposis of toenails |
|
|
|
|
4 / 7739
|
|
8
|
(OMIM)
|
Generalized bruising tendency |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Small hemorrhagic blisters on hands |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Blisters originating in basal cells above hemidesmosomes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Impaired keratin filament insertion into hemidesmosomes |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Abnormal hemidesmosome intracellular attachment plates |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Onychogryphosis of large toenails (occasional) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|