|
1
|
(HPO:0001394)
|
Cirrhosis |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0002216)
|
Premature graying of hair |
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
8
|
(OMIM)
|
Increased risk for cancer |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Increased risk for myelodysplastic syndrome |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Increased risk for hematologic cancer, particularly acute myeloid leukemia |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Decreased telomere length in lymphocytes |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
14
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|