|
1
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
|
2
|
(HPO:0000855)
|
Insulin resistance |
rare [HPO:skoehler]
|
|
|
|
32 / 7739
|
|
3
|
(HPO:0000956)
|
Acanthosis nigricans |
rare [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
|
|
172 / 7739
|
|
5
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0005616)
|
Accelerated skeletal maturation |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0012411)
|
Premature pubarche |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0000826)
|
Precocious puberty |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0100000)
|
Early onset of sexual maturation |
|
|
|
|
9 / 7739
|
|
10
|
(OMIM)
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Low cortols-to-cortolone ratio |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Low to normal absolute level of cortisol metabolites |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
High absolute level of cortisone metabolites |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased cortisol excretion rate |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Elevated androgen metabolite excretion level |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|