|
1
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
2
|
(HPO:0001386)
|
Joint swelling |
|
|
|
|
7 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002098)
|
Respiratory distress |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0002949)
|
Fused cervical vertebrae |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0006530)
|
Interstitial pulmonary disease |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
9
|
(HPO:0010280)
|
Stomatitis |
|
|
|
|
8 / 7739
|
|
10
|
(OMIM)
|
Mouth ulcers |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Widening of anterior rib ends |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Periosteal cloaking |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Periosteal elevation |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Osteolysis, multifocal sterile |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0004602)
|
Cervical C2/C3 vertebral fusion |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Interphalangeal joint swelling |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Pustulosis or pustular psoriasis, generalized |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Neutrophil infiltration of dermis and epidermis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Pustule formation along hair follicles |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000956)
|
Acanthosis nigricans |
|
|
|
|
54 / 7739
|
|
21
|
(OMIM)
|
Psoriatic nail changes (in some patients) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Onychomedesis - shedding of the nail (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Cerebral vasculitis or vasculopathy (rare) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Fetal distress |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Marked elevation of erythrocyte sedimentation rate |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Marked elevation of serum C-reactive protein level (CRP 123260) |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0002754)
|
Osteomyelitis |
|
|
|
|
37 / 7739
|