|
1
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0000498)
|
Blepharitis |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0000488)
|
Retinopathy |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0100721)
|
Mediastinal lymphadenopathy |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
7
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0002113)
|
Pulmonary infiltrates |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
10
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
11
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
13
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
14
|
(HPO:0002221)
|
Absent axillary hair |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
White ring surrounding the macula |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Numerous bone marrow histiocytes with cytoplasmic granules which stain bright blue with the usual hematologic stains |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mild thrombocytopenia |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0001982)
|
Sea-blue histiocytosis |
|
|
|
|
7 / 7739
|