46,Xy Complete Gonadal Dysgenesis
cardiac,
developmental,
endocrine,
genetic,
gynaecological and obstetric,
urogenital
DHX37
(Withdrawn symbols:
DDX37,
Dhr1,
KIAA1517,
MGC2695,
MGC4322
)
,
DMRT1
(Withdrawn symbols:
CT154,
DMT1
)
,
SRY
(Withdrawn symbols:
TDF
)
,
WT1
(Withdrawn symbols:
AWT1,
GUD,
NPHS4,
WAGR,
WIT-2,
WT-1
)
,
NR5A1
(Withdrawn symbols:
AD4BP,
ELP,
FTZ1,
FTZF1,
SF-1,
SF1,
hSF-1
)
,
NR0B1
(Withdrawn symbols:
AHC,
AHCH,
DAX1,
DSS
)
,
MAP3K1
(Withdrawn symbols:
MAPKKK1,
MEKK,
MEKK1
)
,
SOX9
(Withdrawn symbols:
CMD1,
CMPD1,
SRA1
)
,
DHH
(Withdrawn symbols:
HHG-3,
MGC35145
)
,
CBX2
(Withdrawn symbols:
CDCA6,
M33,
MGC10561
)
Dhx37
(Withdrawn symbols:
Gm1050,
Gm451
)
,
Dmrt1
,
Sry
(Withdrawn symbols:
Tdf,
Tdy
)
,
Wt1
(Withdrawn symbols:
D630046I19Rik,
Wt-1
)
,
Nr5a1
(Withdrawn symbols:
Ftzf1
)
,
Nr0b1
(Withdrawn symbols:
Ahc,
Ahch
)
,
Map3k1
(Withdrawn symbols:
Mekk
)
,
Sox9
(Withdrawn symbols:
2010306G03Rik,
AV220920
)
,
Dhh
(Withdrawn symbols:
C78960
)
,
Cbx2
ORPHA:242 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)