|
1
|
(HPO:0000677)
|
Oligodontia |
|
|
15042511
|
IBIS
|
41 / 7739
|
|
2
|
(HPO:0002209)
|
Sparse scalp hair |
rare [HPO:skoehler]
|
|
|
|
59 / 7739
|
|
3
|
(HPO:0005227)
|
Adenomatous colonic polyposis |
2/12 [HPO:probinson]
|
|
15042511
|
IBIS
|
9 / 7739
|
|
4
|
(OMIM)
|
Sparse eyebrows, especially laterally (in some patients) |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Permanent tooth agenesis, severe |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Breast cancer, early-onset (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(MedDRA:10061451)
|
Colorectal cancer |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Polyps, fundic gland |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Adenomatous polyps, colon |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Scant body hair (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Colorectal cancer, early onset |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|