1
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
3
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
4
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
5
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
6
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
7
|
(HPO:0100249)
|
Calcification of muscles |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
8
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
9
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
10
|
(HPO:0000828)
|
Abnormality of the parathyroid gland |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
11
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
13
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
14
|
(HPO:0100246)
|
Osteoma |
|
|
|
|
5 / 7739
|
15
|
(OMIM)
|
Heterotopic bone formation in dermis and subcutaneous fat |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Growth retardation of affected limbs due to heterotopic bone formation |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Dermal ossification (osteoma cutis) |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Subcutaneous papules in infancy |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Heterotopic bone formation in subcutaneous fat |
|
|
|
|
1 / 7739
|
20
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
21
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
22
|
(MedDRA:10025421)
|
Macule |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
24
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
25
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
26
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
27
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|