|
1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
10
|
(HPO:0002019)
|
Constipation |
Occasional [Orphanet]
|
|
|
|
194 / 7739
|
|
11
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
12
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
13
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
14
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
15
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
16
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
17
|
(OMIM)
|
Oral blistering |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Blistering, generalized, recurrent, severe (occurs after mild physical trauma) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Blistering occurs in clusters ('herpetiform', 'arcuate') |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Blistering of hands, elbows, feet, knees |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hemorrhagic blisters |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
|
23
|
(OMIM)
|
Cleavage within basal keratinocytes |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Clumping of keratin filaments in basal epidermal cells |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Nail shedding |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
27
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
28
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
29
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
30
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
32
|
(HPO:0001075)
|
Atrophic scars |
Rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
33
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|
|
34
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|