|
1
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
3
|
(OMIM)
|
Progressive thickening and furrowing of facial skin |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Periostosis |
|
|
|
|
2 / 7739
|
|
5
|
(OMIM)
|
Swelling of knees |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Periosteal hyperostosis of knee |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Patellar sclerosis |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Sclerosis of distal femur |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Sclerosis of distal tibiofibular joint |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Loss of normal tabulation of metacarpals and phalanges |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Cortical thickening of metacarpals and proximal and middle phalanges |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Cortical thickening and acroosteolysis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Thick facial skin |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Furrowed facial skin |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Elevated urinary PGE(2) levels |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Relatively low urinary PGE-M levels |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0030314)
|
Periostosis |
|
|
|
|
2 / 7739
|