|
1
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
9096364
|
IBIS
|
78 / 7739
|
|
2
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
9096364
|
IBIS
|
51 / 7739
|
|
3
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
9096364
|
IBIS
|
129 / 7739
|
|
4
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
9096364
|
IBIS
|
75 / 7739
|
|
5
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
6
|
(HPO:0002720)
|
IgA deficiency |
|
|
9096364
|
IBIS
|
33 / 7739
|
|
7
|
(HPO:0002841)
|
Recurrent fungal infections |
|
|
9096364
|
IBIS
|
16 / 7739
|
|
8
|
(HPO:0004429)
|
Recurrent viral infections |
|
|
9096364
|
IBIS
|
20 / 7739
|
|
9
|
(HPO:0005403)
|
T lymphocytopenia |
|
|
9096364
|
IBIS
|
10 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0000819)
|
Diabetes mellitus |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0000821)
|
Hypothyroidism |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
13
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
15
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
16
|
(HPO:0001890)
|
Autoimmune hemolytic anemia |
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|