1
|
(HPO:0000498)
|
Blepharitis |
|
|
|
|
27 / 7739
|
2
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
3
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
4
|
(HPO:0001805)
|
Thick nail |
|
|
|
|
96 / 7739
|
5
|
(HPO:0001818)
|
Paronychia |
|
|
|
|
6 / 7739
|
6
|
(HPO:0001880)
|
Eosinophilia |
|
|
|
|
35 / 7739
|
7
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
8
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
9
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
10
|
(HPO:0200039)
|
Pustule |
|
|
|
|
20 / 7739
|
11
|
(OMIM)
|
Otitis externa, recurrent, due to infection with Staphylococcus aureus |
|
|
|
|
1 / 7739
|
12
|
(OMIM)
|
Eyebrows wiry and disorganized |
|
|
|
|
1 / 7739
|
13
|
(OMIM)
|
Eyelashes wiry and disorganized |
|
|
|
|
1 / 7739
|
14
|
(OMIM)
|
Blepharitis, recurrent, due to infection with Staphylococcus aureus |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Left ventricular dilation |
|
|
|
|
13 / 7739
|
16
|
(OMIM)
|
Diarrhea, malabsorptive |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Plasma cell duodenitis |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Crypt hyperplasia |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Mucosal eosinophilia |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Erythema, perioral |
|
|
|
|
2 / 7739
|
21
|
(MedDRA:10056273)
|
Perianal erythema |
|
|
|
|
1 / 7739
|
22
|
(MedDRA:10040849)
|
Skin fissures |
|
|
|
|
3 / 7739
|
23
|
(OMIM)
|
Erythroderma, psoriasiform |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Flares of erythema, scaling, and pustules |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Patchy vacuolization of basal layer |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Pigment incontinence |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Perivascular lymphocytic infiltrate involving vessels of papillary dermis |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Frequent paronychia due to candida and pseudomonas infections |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Short or broken hair |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Severe weathering of hair shaft |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Markedly damaged cuticle of hair |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Moderately elevated IgE |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
No evidence of immunodeficiency |
|
|
|
|
1 / 7739
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|