|
1
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
3
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
4
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0002664)
|
Neoplasm |
|
|
|
|
111 / 7739
|
|
6
|
(HPO:0007597)
|
Congenital palmoplantar keratodermia |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
9
|
(OMIM)
|
Frequent skin and bowel cancer |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Atrophic fibrosis of limb skin |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
12
|
(OMIM)
|
Stiff skin |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|