|
1
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
2
|
(HPO:0200039)
|
Pustule |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
4
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
5
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0002861)
|
Melanoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
8
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0002225)
|
Sparse pubic hair |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
10
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
11
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
12
|
(HPO:0010783)
|
Erythema |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
13
|
(HPO:0000704)
|
Periodontitis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
14
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
15
|
(HPO:0006323)
|
Premature loss of primary teeth |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0100523)
|
Liver abscess |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
18
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
19
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
20
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
21
|
(HPO:0000230)
|
Gingivitis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
23
|
(HPO:0000166)
|
Severe periodontitis |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
25
|
(HPO:0006308)
|
Atrophy of alveolar ridges |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
27
|
(HPO:0006960)
|
Choroid plexus calcification |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
29
|
(OMIM)
|
Severe, early-onset periodontitis |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Dural and choroid plexus calcifications |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|