|
1
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
occasional [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000771)
|
Gynecomastia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
|
4
|
(HPO:0000845)
|
Growth hormone excess |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0001051)
|
Seborrheic dermatitis |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0001061)
|
Acne |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
8
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0001965)
|
Abnormality of the scalp |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
13
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
|
14
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0002754)
|
Osteomyelitis |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
18
|
(HPO:0002797)
|
Osteolysis |
Frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
19
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
20
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
21
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
22
|
(HPO:0005561)
|
Abnormality of bone marrow cell morphology |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
24
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
25
|
(HPO:0010885)
|
Aseptic necrosis |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0100021)
|
Cerebral palsy |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
27
|
(HPO:0100526)
|
Neoplasm of the lung |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
28
|
(HPO:0100760)
|
Clubbing of toes |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
29
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
30
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
31
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
32
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
33
|
(HPO:0009553)
|
Abnormality of the hairline |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
34
|
(HPO:0200055)
|
Small hand |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
35
|
(HPO:0002592)
|
Gastric ulcer |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
36
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
37
|
(HPO:0000969)
|
Edema |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
38
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
|
40
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
42
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
43
|
(HPO:0006465)
|
Periosteal thickening of long tubular bones |
|
|
|
|
3 / 7739
|
|
44
|
(HPO:0010541)
|
Cutis gyrata of scalp |
|
|
|
|
6 / 7739
|
|
45
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|