|
1
|
(HPO:0100825)
|
Cheilitis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
2
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0000795)
|
Abnormality of the urethra |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
11
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
12
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
14
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
15
|
(OMIM)
|
Dystrophic epidermolysis bullosa |
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Blistering, recurrent |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Erosions |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
|
19
|
(OMIM)
|
Mucosal lesions |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Albopapuloid lesions may occur |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Sublamina densa level of tissue separation beneath basal membrane |
|
|
|
|
5 / 7739
|
|
22
|
(OMIM)
|
Decreased number of anchoring fibrils at dermal-epidermal junction |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Hypotrophic anchoring fibrils |
|
|
|
|
5 / 7739
|
|
24
|
(OMIM)
|
Decreased staining for collagen VII at the dermal-epidermal junction |
|
|
|
|
2 / 7739
|
|
25
|
(MedDRA:10068058)
|
Nail atrophy |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
27
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
28
|
(HPO:0011037)
|
Decreased urine output |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
29
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
30
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
32
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
33
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|