1
|
(HPO:0000144)
|
Decreased fertility |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
2
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
3
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
4
|
(HPO:0000787)
|
Nephrolithiasis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
5
|
(HPO:0000819)
|
Diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
6
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
7
|
(HPO:0000869)
|
Secondary amenorrhea |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
8
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
10
|
(HPO:0000998)
|
Hypertrichosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
11
|
(HPO:0001007)
|
Hirsutism |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
91 / 7739
|
12
|
(HPO:0002230)
|
Generalized hirsutism |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
32 / 7739
|
13
|
(HPO:0004554)
|
Generalized hypertrichosis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
30 / 7739
|
14
|
(HPO:0001061)
|
Acne |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
15
|
(HPO:0001065)
|
Striae distensae |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
990 / 7739
|
17
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
18
|
(HPO:0001578)
|
Hypercortisolism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
19
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
20
|
(HPO:0001956)
|
Truncal obesity |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
21
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
22
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
23
|
(HPO:0002757)
|
Recurrent fractures |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
24
|
(HPO:0002900)
|
Hypokalemia |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
25
|
(HPO:0003072)
|
Hypercalcemia |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
26
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
27
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
|
|
151 / 7739
|
28
|
(HPO:0003228)
|
Hypernatremia |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
29
|
(HPO:0004295)
|
Abnormality of the gastric mucosa |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
30
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
31
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
32
|
(HPO:0009124)
|
Abnormality of adipose tissue |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
33
|
(HPO:0010885)
|
Aseptic necrosis |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
34
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
35
|
(HPO:0012211)
|
Abnormal renal physiology |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
36
|
(HPO:0001009)
|
Telangiectasia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
46 / 7739
|
37
|
(HPO:0100585)
|
Telangiectasia of the skin |
Occasional [Orphanet]
|
|
|
|
66 / 7739
|
38
|
(HPO:0100631)
|
Neoplasm of the adrenal gland |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
39
|
(HPO:0100639)
|
Erectile abnormalities |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
40
|
(HPO:0001508)
|
Failure to thrive |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
41
|
(HPO:0001510)
|
Growth delay |
Very frequent [Orphanet]
|
|
|
|
295 / 7739
|
42
|
(HPO:0011968)
|
Feeding difficulties |
Very frequent [Orphanet]
|
|
|
|
240 / 7739
|
43
|
(HPO:0000789)
|
Infertility |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
44
|
(HPO:0000967)
|
Petechiae |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
45
|
(HPO:0000979)
|
Purpura |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
46
|
(HPO:0000716)
|
Depression |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
47
|
(HPO:0000737)
|
Irritability |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
48
|
(HPO:0000739)
|
Anxiety |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
49
|
(HPO:0000741)
|
Apathy |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
50
|
(HPO:0010547)
|
Muscle flaccidity |
Frequent [Orphanet]
|
|
|
|
466 / 7739
|
51
|
(HPO:0002718)
|
Recurrent bacterial infections |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
52
|
(HPO:0002719)
|
Recurrent infections |
Frequent [Orphanet]
|
|
|
|
107 / 7739
|
53
|
(HPO:0002721)
|
Immunodeficiency |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
54
|
(HPO:0002155)
|
Hypertriglyceridemia |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
55
|
(HPO:0003077)
|
Hyperlipidemia |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
56
|
(HPO:0003124)
|
Hypercholesterolemia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
57
|
(HPO:0011848)
|
Abdominal colic |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
58
|
(HPO:0000103)
|
Polyuria |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
59
|
(HPO:0100515)
|
Pollakisuria |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
60
|
(HPO:0100518)
|
Dysuria |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
61
|
(HPO:0100519)
|
Anuria |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
62
|
(HPO:0100520)
|
Oliguria |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
63
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
64
|
(HPO:0000938)
|
Osteopenia |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
65
|
(HPO:0000939)
|
Osteoporosis |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
66
|
(HPO:0002748)
|
Rickets |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
67
|
(HPO:0002749)
|
Osteomalacia |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
68
|
(HPO:0006462)
|
Generalized bone demineralization |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
69
|
(HPO:0002588)
|
Duodenal ulcer |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
70
|
(HPO:0002592)
|
Gastric ulcer |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
71
|
(HPO:0005263)
|
Gastritis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
72
|
(HPO:0100805)
|
Precocious menopause |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
73
|
(HPO:0000709)
|
Psychosis |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
74
|
(HPO:0007302)
|
Bipolar affective disorder |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
75
|
(HPO:0100753)
|
Schizophrenia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
76
|
(HPO:0001254)
|
Lethargy |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
77
|
(HPO:0001259)
|
Coma |
Occasional [Orphanet]
|
|
|
|
65 / 7739
|
78
|
(HPO:0001289)
|
Confusion |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
79
|
(HPO:0002329)
|
Drowsiness |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
80
|
(HPO:0100607)
|
Dysmenorrhea |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
81
|
(HPO:0100608)
|
Metrorrhagia |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
82
|
(HPO:0000132)
|
Menorrhagia |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
83
|
(HPO:0000802)
|
Impotence |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
84
|
(HPO:0008652)
|
Autonomic erectile dysfunction |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
85
|
(HPO:0200023)
|
Priapism |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
86
|
(HPO:0007552)
|
Abnormal subcutaneous fat tissue distribution |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
87
|
(HPO:0009064)
|
Generalized lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
88
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
89
|
(HPO:0008221)
|
Adrenal hyperplasia |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
90
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
91
|
(HPO:0003473)
|
Fatigable weakness |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|