|
1
|
(HPO:0002728)
|
Chronic mucocutaneous candidiasis |
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
3
|
(HPO:0000819)
|
Diabetes mellitus |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000821)
|
Hypothyroidism |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0000823)
|
Delayed puberty |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0000938)
|
Osteopenia |
rare [HPO:skoehler]
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0000964)
|
Eczema |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0001888)
|
Lymphopenia |
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0001890)
|
Autoimmune hemolytic anemia |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0002014)
|
Diarrhea |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
12
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0002958)
|
Immune dysregulation |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0011473)
|
Villous atrophy |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|