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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