|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
3
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0100769)
|
Synovitis |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
9
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
11
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
12
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
13
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
14
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
15
|
(HPO:0004332)
|
Abnormality of lymphocytes |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
17
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
18
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
19
|
(HPO:0001876)
|
Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
20
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
21
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
22
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
23
|
(HPO:0100776)
|
Recurrent pharyngitis |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
24
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
25
|
(HPO:0002206)
|
Pulmonary fibrosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
26
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
27
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
28
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
29
|
(HPO:0001370)
|
Rheumatoid arthritis |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
31
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
32
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
33
|
(HPO:0003549)
|
Abnormality of connective tissue |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
34
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
35
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
36
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|