|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
3
|
(HPO:0100577)
|
Urinary bladder inflammation |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0100640)
|
Laryngeal cyst |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0000795)
|
Abnormality of the urethra |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
12
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0006089)
|
Palmar hyperhidrosis |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0007556)
|
Plantar hyperkeratosis |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0200097)
|
Oral mucosal blisters |
|
|
|
|
7 / 7739
|
|
17
|
(OMIM)
|
Enamel pitting |
|
|
|
|
6 / 7739
|
|
18
|
(OMIM)
|
Absent dermal ridges |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Mild finger contractures |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Subepidermal blistering |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Loss of dermal papillae |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Loss of superficial elastic fibers |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Junctional blister formation |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Widened lamina lucida |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Normal hemidesmosomes |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
28
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
29
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
30
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
31
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
32
|
(HPO:0011037)
|
Decreased urine output |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
33
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|