|
1
|
(HPO:0000836)
|
Hyperthyroidism |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0001578)
|
Hypercortisolism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000853)
|
Goiter |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0010788)
|
Testicular neoplasm |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0000957)
|
Cafe-au-lait spot |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
9
|
(HPO:0000098)
|
Tall stature |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
10
|
(HPO:0000053)
|
Macroorchidism |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0000670)
|
Carious teeth |
Occasional [Orphanet]
|
|
|
|
145 / 7739
|
|
13
|
(HPO:0000040)
|
Long penis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
15
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
16
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
17
|
(HPO:0000826)
|
Precocious puberty |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
18
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
19
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
20
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
21
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
22
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
23
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
24
|
(HPO:0000843)
|
Hyperparathyroidism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0008221)
|
Adrenal hyperplasia |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
27
|
(HPO:0002148)
|
Hypophosphatemia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
28
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
29
|
(HPO:0100013)
|
Neoplasm of the breast |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
30
|
(HPO:0000689)
|
Dental malocclusion |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
31
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
32
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
33
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
34
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
35
|
(HPO:0000845)
|
Growth hormone excess |
|
|
|
|
18 / 7739
|
|
36
|
(HPO:0000870)
|
Prolactin excess |
|
|
|
|
10 / 7739
|
|
37
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
38
|
(HPO:0002893)
|
Pituitary adenoma |
|
|
|
|
16 / 7739
|
|
39
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
40
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
41
|
(HPO:0004493)
|
Craniofacial hyperostosis |
|
|
|
|
5 / 7739
|
|
42
|
(HPO:0010735)
|
Polyostotic fibrous dysplasia |
|
|
|
|
3 / 7739
|
|
43
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
44
|
(HPO:0200008)
|
Intestinal polyposis |
|
|
|
|
23 / 7739
|
|
45
|
(OMIM)
|
Cranial foramen impingement |
|
|
|
|
3 / 7739
|
|
46
|
(OMIM)
|
Large cafe au lait spots with irregular margins |
|
|
|
|
3 / 7739
|
|
47
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|