|
1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000142)
|
Abnormality of the vagina |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
6
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
7
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
8
|
(HPO:0000989)
|
Pruritus |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
9
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0002105)
|
Hemoptysis |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
|
13
|
(HPO:0004306)
|
Abnormality of the endocardium |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
14
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0100825)
|
Cheilitis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
16
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
17
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
18
|
(HPO:0000153)
|
Abnormality of the mouth |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
20
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
21
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
22
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
23
|
(HPO:0002715)
|
Abnormality of the immune system |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
24
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
25
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
26
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
27
|
([DEL]MedDRA:10011224)
|
Cough |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
28
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
29
|
(HPO:0011037)
|
Decreased urine output |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
30
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
32
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
|
33
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
34
|
(HPO:0002728)
|
Chronic mucocutaneous candidiasis |
|
|
|
|
14 / 7739
|
|
35
|
(HPO:0002965)
|
Cutaneous anergy |
|
|
|
|
7 / 7739
|
|
36
|
(HPO:0004429)
|
Recurrent viral infections |
|
|
|
|
20 / 7739
|
|
37
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|