1
|
(HPO:0001007)
|
Hirsutism |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
1190820; 25484423; 12023989
|
IBIS
|
91 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
13302174; 1190820; 25484423; 12023989
|
IBIS
|
291 / 7739
|
3
|
(HPO:0000956)
|
Acanthosis nigricans |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
2573522; 1190820; 3415309; 25484423; 12023989
|
IBIS
|
54 / 7739
|
4
|
(HPO:0004322)
|
Short stature |
Frequent [IBIS]
Frequent [Orphanet]
|
|
13302174; 1190820; 12023989
|
IBIS
|
1232 / 7739
|
5
|
(HPO:0000842)
|
Hyperinsulinemia |
Frequent [IBIS]
|
|
1190820; 3415309; 25484423; 20155514
|
IBIS
|
39 / 7739
|
6
|
(HPO:0001518)
|
Small for gestational age |
Frequent [IBIS]
|
|
1190820; 3415309; 12023989
|
IBIS
|
107 / 7739
|
7
|
(HPO:0012686)
|
Increased pineal volume |
Frequent [IBIS]
|
|
13302174; 1190820; 25484423; 20155514
|
IBIS
|
1 / 7739
|
8
|
(HPO:0003247)
|
Overgrowth of external genitalia |
Frequent [IBIS]
|
|
13302174; 1190820; 25484423
|
IBIS
|
3 / 7739
|
9
|
(HPO:0001999)
|
Abnormal facial shape |
Frequent [IBIS]
|
|
1190820; 3415309
|
IBIS
|
169 / 7739
|
10
|
(HPO:0007485)
|
Absence of subcutaneous fat |
Frequent [IBIS]
|
|
1190820; 25484423
|
IBIS
|
6 / 7739
|
11
|
(HPO:0001510)
|
Growth delay |
Frequent [IBIS]
|
|
25484423; 20155514; 12023989
|
IBIS
|
295 / 7739
|
12
|
(HPO:0011014)
|
Abnormal glucose homeostasis |
Frequent [IBIS]
|
|
25484423
|
IBIS
|
5 / 7739
|
13
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
13302174; 3415309; 25484423; 20155514; 12023989
|
IBIS
|
189 / 7739
|
14
|
(HPO:0000998)
|
Hypertrichosis |
Very frequent [Orphanet]
|
|
13302174; 25484423
|
IBIS
|
52 / 7739
|
15
|
(HPO:0002230)
|
Generalized hirsutism |
Very frequent [Orphanet]
|
|
13302174; 20155514
|
IBIS
|
32 / 7739
|
16
|
(HPO:0004554)
|
Generalized hypertrichosis |
Very frequent [Orphanet]
|
|
25484423
|
IBIS
|
30 / 7739
|
17
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
13302174; 3415309; 25484423
|
IBIS
|
179 / 7739
|
18
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
13302174; 1190820
|
IBIS
|
96 / 7739
|
19
|
(HPO:0006288)
|
Advanced eruption of teeth |
Very frequent [Orphanet]
|
|
13302174; 1190820; 3415309; 20155514
|
IBIS
|
5 / 7739
|
20
|
(HPO:0000819)
|
Diabetes mellitus |
Very frequent [Orphanet]
|
|
12023989
|
IBIS
|
131 / 7739
|
21
|
(HPO:0007495)
|
Prematurely aged appearance |
Frequent [Orphanet]
|
|
13302174
|
IBIS
|
44 / 7739
|
22
|
(HPO:0000040)
|
Long penis |
Very frequent [Orphanet]
|
|
13302174; 1190820; 3415309; 12023989
|
IBIS
|
17 / 7739
|
23
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
13302174
|
IBIS
|
146 / 7739
|
24
|
(HPO:0000126)
|
Hydronephrosis |
Occasional [Orphanet]
|
|
13302174
|
IBIS
|
119 / 7739
|
25
|
(HPO:0100874)
|
Thick hair |
Frequent [Orphanet]
|
|
13302174
|
IBIS
|
7 / 7739
|
26
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
13302174; 12023989
|
IBIS
|
87 / 7739
|
27
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
25484423
|
IBIS
|
358 / 7739
|
28
|
(HPO:0009381)
|
Short finger |
Frequent [Orphanet]
|
|
3415309; 12023989
|
IBIS
|
45 / 7739
|
29
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
1190820
|
IBIS
|
152 / 7739
|
30
|
(HPO:0000138)
|
Ovarian cyst |
Occasional [Orphanet]
occasional [HPO]
|
|
1190820
|
IBIS
|
25 / 7739
|
31
|
(HPO:0000147)
|
Polycystic ovaries |
Occasional [Orphanet]
|
|
25484423; 20155514
|
IBIS
|
18 / 7739
|
32
|
(HPO:0000057)
|
Clitoromegaly |
|
|
1190820; 25484423; 20155514; 12023989
|
IBIS
|
30 / 7739
|
33
|
(HPO:0002705)
|
High, narrow palate |
|
|
12023989
|
IBIS
|
308 / 7739
|
34
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
13302174; 2573522; 1190820; 20155514
|
IBIS
|
22 / 7739
|
35
|
(HPO:0000855)
|
Insulin resistance |
|
|
13302174; 2573522; 20155514
|
IBIS
|
32 / 7739
|
36
|
(HPO:0001943)
|
Hypoglycemia |
|
|
3415309
|
IBIS
|
131 / 7739
|
37
|
(HPO:0001953)
|
Diabetic ketoacidosis |
|
|
1190820
|
IBIS
|
6 / 7739
|
38
|
(HPO:0003074)
|
Hyperglycemia |
|
|
13302174
|
IBIS
|
37 / 7739
|
39
|
(HPO:0003162)
|
Fasting hypoglycemia |
|
|
25484423
|
IBIS
|
8 / 7739
|
40
|
(HPO:0011998)
|
Postprandial hyperglycemia |
|
|
25484423
|
IBIS
|
5 / 7739
|
41
|
(HPO:0006337)
|
Premature eruption of permanent teeth |
|
|
13302174; 1190820; 3415309; 12023989
|
IBIS
|
2 / 7739
|
42
|
(HPO:0100615)
|
Ovarian neoplasm |
|
|
13302174
|
IBIS
|
25 / 7739
|
43
|
(HPO:0001959)
|
Polydipsia |
|
|
13302174; 1190820; 25484423
|
IBIS
|
43 / 7739
|
44
|
(HPO:0000103)
|
Polyuria |
|
|
13302174; 1190820; 25484423
|
IBIS
|
60 / 7739
|
45
|
(HPO:0003076)
|
Glycosuria |
|
|
13302174; 1190820; 3415309; 25484423
|
IBIS
|
32 / 7739
|
46
|
(HPO:0000055)
|
Abnormality of female external genitalia |
|
|
13302174
|
IBIS
|
5 / 7739
|
47
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
13302174; 20155514
|
IBIS
|
75 / 7739
|
48
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
13302174; 1190820; 3415309; 20155514
|
IBIS
|
36 / 7739
|
49
|
(HPO:0005978)
|
Type II diabetes mellitus |
|
|
13302174
|
IBIS
|
68 / 7739
|
50
|
(HPO:0001941)
|
Acidosis |
|
|
13302174
|
IBIS
|
9 / 7739
|
51
|
(HPO:0100678)
|
Premature skin wrinkling |
|
|
13302174
|
IBIS
|
25 / 7739
|
52
|
(HPO:0000065)
|
Labial hypertrophy |
|
|
13302174
|
IBIS
|
4 / 7739
|
53
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
13302174
|
IBIS
|
10 / 7739
|
54
|
(HPO:0000670)
|
Carious teeth |
|
|
13302174; 1190820; 20155514
|
IBIS
|
145 / 7739
|
55
|
(HPO:3000033)
|
Abnormality of nasopharyngeal adenoids |
|
|
13302174
|
IBIS
|
4 / 7739
|
56
|
(HPO:0002315)
|
Headache |
|
|
13302174
|
IBIS
|
175 / 7739
|
57
|
(HPO:0011220)
|
Prominent forehead |
|
|
13302174
|
IBIS
|
137 / 7739
|
58
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
13302174; 20155514
|
IBIS
|
30 / 7739
|
59
|
(HPO:0012330)
|
Pyelonephritis |
|
|
13302174
|
IBIS
|
7 / 7739
|
60
|
(MedDRA:10034531)
|
Perinephric abscess |
|
|
13302174
|
IBIS
|
1 / 7739
|
61
|
(HPO:0100806)
|
Sepsis |
|
|
13302174; 1190820
|
IBIS
|
48 / 7739
|
62
|
(HPO:0100577)
|
Urinary bladder inflammation |
|
|
13302174
|
IBIS
|
4 / 7739
|
63
|
(HPO:0008221)
|
Adrenal hyperplasia |
|
|
13302174; 20155514
|
IBIS
|
24 / 7739
|
64
|
(HPO:0012094)
|
Abnormal pancreas size |
|
|
13302174
|
IBIS
|
5 / 7739
|
65
|
(HPO:0100732)
|
Pancreatic fibrosis |
|
|
13302174
|
IBIS
|
12 / 7739
|
66
|
(HPO:0001993)
|
Ketoacidosis |
|
|
13302174; 25484423; 12023989
|
IBIS
|
17 / 7739
|
67
|
(HPO:0030348)
|
Increased circulating androgen level |
|
|
2573522
|
IBIS
|
8 / 7739
|
68
|
(HPO:0002919)
|
Ketonuria |
|
|
1190820; 3415309
|
IBIS
|
18 / 7739
|
69
|
(HPO:0000221)
|
Furrowed tongue |
|
|
1190820; 25484423
|
IBIS
|
24 / 7739
|
70
|
(HPO:0003355)
|
Aminoaciduria |
|
|
1190820
|
IBIS
|
65 / 7739
|
71
|
(HPO:0002900)
|
Hypokalemia |
|
|
1190820
|
IBIS
|
45 / 7739
|
72
|
(HPO:0001090)
|
Large eyes |
|
|
3415309
|
IBIS
|
20 / 7739
|
73
|
(HPO:0000400)
|
Macrotia |
|
|
3415309
|
IBIS
|
108 / 7739
|
74
|
(HPO:0040261)
|
Increased size of nasopharyngeal adenoids |
|
|
3415309
|
IBIS
|
4 / 7739
|
75
|
(HPO:0012689)
|
Abnormal pineal melatonin secretion |
|
|
3415309
|
IBIS
|
1 / 7739
|
76
|
(HPO:0000445)
|
Wide nose |
|
|
25484423
|
IBIS
|
190 / 7739
|
77
|
(HPO:0000678)
|
Dental crowding |
|
|
25484423; 12023989
|
IBIS
|
65 / 7739
|
78
|
(HPO:0002216)
|
Premature graying of hair |
|
|
25484423
|
IBIS
|
43 / 7739
|
79
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
25484423
|
IBIS
|
113 / 7739
|
80
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
25484423
|
IBIS
|
43 / 7739
|
81
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
20155514
|
IBIS
|
13 / 7739
|
82
|
(HPO:0000574)
|
Thick eyebrow |
|
|
20155514
|
IBIS
|
96 / 7739
|
83
|
(HPO:0010313)
|
Breast hypertrophy |
|
|
20155514; 12023989
|
IBIS
|
6 / 7739
|
84
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
20155514
|
IBIS
|
22 / 7739
|
85
|
(HPO:0000689)
|
Dental malocclusion |
|
|
20155514
|
IBIS
|
114 / 7739
|
86
|
(HPO:0010758)
|
Abnormality of the premaxilla |
|
|
20155514
|
IBIS
|
1 / 7739
|
87
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
20155514
|
IBIS
|
64 / 7739
|
88
|
(HPO:0000859)
|
Hyperaldosteronism |
|
|
20155514
|
IBIS
|
17 / 7739
|
89
|
(HPO:0000230)
|
Gingivitis |
|
|
20155514
|
IBIS
|
31 / 7739
|
90
|
(HPO:0001562)
|
Oligohydramnios |
|
|
12023989
|
IBIS
|
75 / 7739
|
91
|
(HPO:0100769)
|
Synovitis |
|
|
12023989
|
IBIS
|
86 / 7739
|
92
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
12023989
|
IBIS
|
61 / 7739
|
93
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
12023989
|
IBIS
|
10 / 7739
|
94
|
(HPO:0000391)
|
Thickened helices |
|
|
12023989
|
IBIS
|
8 / 7739
|
95
|
(HPO:0000463)
|
Anteverted nares |
|
|
12023989
|
IBIS
|
305 / 7739
|
96
|
(HPO:0000455)
|
Broad nasal tip |
|
|
12023989
|
IBIS
|
67 / 7739
|
97
|
(HPO:0012471)
|
Thick vermilion border |
|
|
12023989
|
IBIS
|
115 / 7739
|
98
|
(HPO:0000154)
|
Wide mouth |
|
|
12023989
|
IBIS
|
137 / 7739
|
99
|
(HPO:0012785)
|
Flexion contracture of finger |
|
|
12023989
|
IBIS
|
3 / 7739
|