|
1
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
4
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
|
5
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
7
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
9
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
12
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
13
|
(HPO:0002113)
|
Pulmonary infiltrates |
|
|
|
|
36 / 7739
|
|
14
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
15
|
(HPO:0010280)
|
Stomatitis |
|
|
|
|
8 / 7739
|
|
16
|
(OMIM)
|
Lytic osseous lesions |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Infantile irritability |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Histiocytosis X (eosinophilic granuloma) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Histiocytic infiltration of the liver, spleen and lymph nodes |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Diffuse papulo-vesicular rash |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Scaly petechial dermatitis |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Intertriginous denudation |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|