|
1
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
2
|
(HPO:0000704)
|
Periodontitis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
6
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
9
|
(HPO:0100759)
|
Clubbing of fingers |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
10
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
11
|
(HPO:0001763)
|
Pes planus |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
12
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0000166)
|
Severe periodontitis |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0005406)
|
Recurrent bacterial skin infections |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0006224)
|
Tapering pointed ends of distal finger phalanges |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0007545)
|
Congenital palmoplantar keratosis |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
18
|
(OMIM)
|
Severe, early-onset periodontitis |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Alveolar bone destruction |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Premature tooth |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Tapered, pointed distal phalanges |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Claw-like volar curve |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
24
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
25
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|