|
1
|
(HPO:0001433)
|
Hepatosplenomegaly |
Very frequent [IBIS]
|
|
25987176
|
IBIS
|
78 / 7739
|
|
2
|
(HPO:0001103)
|
Abnormality of the macula |
|
|
|
|
7 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0001982)
|
Sea-blue histiocytosis |
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
6
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
8
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0002207)
|
Diffuse reticular or finely nodular infiltrations |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
11
|
(HPO:0003141)
|
Hyperbetalipoproteinemia |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0003609)
|
Foam cells with lamellar inclusion bodies |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0004333)
|
Bone-marrow foam cells |
|
|
|
|
11 / 7739
|
|
16
|
(OMIM)
|
Cherry-red maculae (50%) |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Decreased pulmonary diffusion secondary to alveolar infiltration |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Absence of neurologic manifestations |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Decreased platelets |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Decreased acid sphingomyelinase activity |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Electron microscopy of foam cells shows lamellar inclusions |
|
|
|
|
3 / 7739
|