Celebrate with us the 40th anniversary of our Annual Meeting. Register here for ESHRE 2024.

FeRGI Database






Abbreviations
AD Autosomal Dominant
AR Autosomal Recessive
CAH Congenital adrenal hyperplasia
DSD Differences in sex development
E/RSD Endocrine and/or reproductive system disorders
GDR Gene-Disease Relationship
HGVS Human Genome Variation Society
HH Hypogonadotropic hypogonadism
HM Hydatidiform mole
N/A Not available
NS Non Syndromic
ODG Ovarian dysgenesis
OMIM Online Mendelian Inheritance in Man
OZEMA Oocyte/zygote/embryo maturation arrest
PCO Polycystic ovarian syndrome
POI Primary ovarian insufficiency
RM Recurrent miscarriage
S Syndromic
XL X-linked
XL(R) X-linked (recessive)
YL Y-linked
adopted from "Smith et al, Hum Mutat 2017", DOI: 10.1002/humu.23183
Score Evidence
1 No evidence
2 No evidence
3 Limited
4 Limited
5 Limited
6 Limited
7 Limited
8 Limited
9 Moderate
10 Moderate
11 Moderate
12 Moderate
13 Strong
14 Strong
15 Strong
16 Definitive
17 Definitive
18 Definitive