|
1
|
(HPO:0000122)
|
Unilateral renal agenesis |
rare [HPO]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000141)
|
Amenorrhea |
hallmark [HPO]
|
|
|
|
16 / 7739
|
|
3
|
(HPO:0000151)
|
Aplasia of the uterus |
hallmark [HPO]
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0001007)
|
Hirsutism |
hallmark [HPO]
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0001061)
|
Acne |
common [HPO]
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0003250)
|
Aplasia of the vagina |
hallmark [HPO]
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0008655)
|
Aplasia/Hypoplasia of the fallopian tube |
hallmark [HPO]
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Normal external genitalia |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Aplasia of Mullerian duct derivatives |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Dysgenesis of Mullerian duct derivatives |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Absent or rudimentary vagina |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Absent or rudimentary uterus |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Functional ovaries |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Unilateral renal aplasia (rare) |
|
|
|
|
1 / 7739
|
|
15
|
(MedDRA:10065597)
|
Hyperandrogenism |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
17
|
(HPO:0000869)
|
Secondary amenorrhea |
|
|
|
|
42 / 7739
|
|
18
|
(OMIM)
|
Elevated testosterone |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Elevated androstenedione |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|