1
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
16628197
|
IBIS
|
40 / 7739
|
2
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
20940358
|
IBIS
|
141 / 7739
|
3
|
(HPO:0001808)
|
Fragile nails |
rare [HPO:skoehler]
|
|
22795705
|
IBIS
|
21 / 7739
|
4
|
(HPO:0001820)
|
Leukonychia |
rare [HPO:skoehler]
|
|
22795705
|
IBIS
|
18 / 7739
|
5
|
(HPO:0002224)
|
Woolly hair |
|
|
16628197
|
IBIS
|
26 / 7739
|
6
|
(HPO:0009804)
|
Reduced number of teeth |
variable [HPO:skoehler]
|
|
22795705
|
IBIS
|
137 / 7739
|
7
|
(HPO:0011712)
|
Right bundle branch block |
|
|
20940358
|
IBIS
|
34 / 7739
|
8
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
22795705
|
IBIS
|
16 / 7739
|
9
|
(HPO:0002617)
|
Aneurysm |
|
|
22795705
|
IBIS
|
34 / 7739
|
10
|
(MedDRA:10040849)
|
Skin fissures |
|
|
16628197
|
IBIS
|
3 / 7739
|
11
|
(OMIM)
|
Keratoderma of palms and soles |
|
|
16628197
|
IBIS
|
2 / 7739
|
12
|
(OMIM)
|
Psoriasiform skin lesions |
|
|
16628197
|
IBIS
|
2 / 7739
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
16628197
|
IBIS
|
216 / 7739
|
14
|
(HPO:0004756)
|
Ventricular tachycardia |
|
|
16628197
|
IBIS
|
55 / 7739
|
15
|
(HPO:0003115)
|
Abnormal EKG |
|
|
16628197
|
IBIS
|
44 / 7739
|
16
|
(HPO:0006673)
|
Reduced systolic function |
|
|
16628197
|
IBIS
|
11 / 7739
|
17
|
(HPO:0011675)
|
Arrhythmia |
|
|
16628197
|
IBIS
|
226 / 7739
|
18
|
(HPO:0000677)
|
Oligodontia |
|
|
20940358
|
IBIS
|
41 / 7739
|
19
|
(HPO:0002375)
|
Hypokinesia |
|
|
20940358
|
IBIS
|
25 / 7739
|
20
|
(OMIM)
|
Fibro-fatty replacement of right ventricular myocardium. |
|
|
20940358
|
IBIS
|
4 / 7739
|
21
|
(HPO:0001685)
|
Myocardial fibrosis |
|
|
20940358
|
IBIS
|
30 / 7739
|
22
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
16628197
|
IBIS
|
84 / 7739
|