1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
3
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
4
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
5
|
(HPO:0002289)
|
Alopecia universalis |
rare [HPO:skoehler]
|
|
|
|
20 / 7739
|
6
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
8
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
9
|
(HPO:0100526)
|
Neoplasm of the lung |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
11
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
12
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
13
|
(HPO:0002861)
|
Melanoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
14
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
15
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
16
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
17
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
18
|
(HPO:0000975)
|
Hyperhidrosis |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
19
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
20
|
(HPO:0001036)
|
Parakeratosis |
|
|
|
|
12 / 7739
|
21
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
22
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
23
|
(HPO:0007759)
|
Opacification of the corneal stroma |
rare [HPO:skoehler]
|
|
|
|
77 / 7739
|
24
|
(HPO:0007957)
|
Corneal opacity |
rare [HPO:skoehler]
|
|
|
|
84 / 7739
|
25
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
26
|
(HPO:0008070)
|
Sparse hair |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
27
|
(HPO:0008392)
|
Subungual hyperkeratosis |
|
|
|
|
6 / 7739
|
28
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
29
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
30
|
(OMIM)
|
Keratotic plaque around ear meatus |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Keratotic plaque around nostrils |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Perioral keratotic plaque |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Leukokeratosis of tongue and/or buccal mucosa (in some patients) |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Keratotic plaque (in some patients) |
|
|
|
|
2 / 7739
|
35
|
(OMIM)
|
Perianal keratotic plaque |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Keratotic plaque in perigenital region |
|
|
|
|
1 / 7739
|
37
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
38
|
(OMIM)
|
Constricting digital bands |
|
|
|
|
1 / 7739
|
39
|
(OMIM)
|
Autoamputation of fingers (in some patients) |
|
|
|
|
1 / 7739
|
40
|
(OMIM)
|
Autoamputation of toes (in some patients) |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Keratoderma, mutilating, of palms and soles |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Keratotic plaque, periorificial |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Pruritus of skin lesions, severe |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Anhidrosis over skin lesions (rare) |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Marked hyperkeratosis |
|
|
|
|
2 / 7739
|
46
|
(OMIM)
|
Psoriasiform hyperplasia |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Orthohyperkeratosis |
|
|
|
|
4 / 7739
|
48
|
(OMIM)
|
Hypogranulosis |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Transverse ridging |
|
|
|
|
2 / 7739
|
50
|
(OMIM)
|
Pili torti defects (in some patients) |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Trichorrhexis nodosa-type defects (in some patients) |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Squamous cell carcinoma in area of palmoplantar keratoderma (rare) |
|
|
|
|
1 / 7739
|
53
|
(HPO:0100774)
|
Hyperostosis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
54
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
55
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
56
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|