|
1
|
(HPO:0000121)
|
Nephrocalcinosis |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
3
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000230)
|
Gingivitis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0000988)
|
Skin rash |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
6
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
7
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
8
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0002754)
|
Osteomyelitis |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0002905)
|
Hyperphosphatemia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
14
|
(HPO:0100026)
|
Arteriovenous malformation |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
15
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
16
|
(HPO:0100774)
|
Hyperostosis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
18
|
(HPO:0100249)
|
Calcification of muscles |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
20
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
21
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|