|
1
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
2
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
4
|
(HPO:0001807)
|
Ridged nail |
rare [HPO:skoehler]
|
|
|
|
20 / 7739
|
|
5
|
(HPO:0003002)
|
Breast carcinoma |
rare [HPO:skoehler]
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
7
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0000444)
|
Convex nasal ridge |
rare [HPO:skoehler]
|
|
|
|
87 / 7739
|
|
9
|
(OMIM)
|
Oropharyngeal cancer |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Thin dental enamel of both primary and secondary dentition |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Dental caries of both primary and secondary dentition |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Loss of multiple teeth |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Misshapen incisors (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Telangiectasias in both sun-exposed and sun-protected areas |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Nonmelanoma skin cancer (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Alopecia, patchy, over areas of prominent telangiectasias |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cervical cancer (rare) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|