Phenotype: Abnormal ovarian morphology (HP:0031065)
Associated genes and diseases:
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: NTHL1
disease_id: ORPHA:454840
disease_name: NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related AFAP
NTHL1-related attenuated FAP
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: FSHR
disease_id: ORPHA:64739
disease_name: Ovarian hyperstimulation syndrome
OHSS
gene_symbol: F7
disease_id: ORPHA:327
disease_name: Congenital factor VII deficiency
Congenital proconvertin deficiency
Hypoproconvertinemia
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: LHB
disease_id: OMIM:228300
disease_name: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: CYP19A1
disease_id: OMIM:613546
disease_name: AROMATASE DEFICIENCY
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: SOX9
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: SOX9
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: SOX9
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: SOX3
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: NR5A1
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: NR5A1
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: NR5A1
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: SRY
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: SRY
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: SRY
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: NR0B1
disease_id: ORPHA:393
disease_name: 46,XX testicular difference of sex development
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
gene_symbol: NR0B1
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: FLT1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STOX1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: CORIN
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ANTXR2
disease_id: ORPHA:2176
disease_name: Infantile systemic hyalinosis
gene_symbol: ATM
disease_id: ORPHA:100
disease_name: Ataxia-telangiectasia
Louis-Bar syndrome
gene_symbol: PLIN1
disease_id: ORPHA:280356
disease_name: PLIN1-related familial partial lipodystrophy
FPLD4
PLIN1-related FPLD
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
gene_symbol: PPARG
disease_id: ORPHA:79083
disease_name: PPARG-related familial partial lipodystrophy
FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD
gene_symbol: PPARG
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: ESR1
disease_id: OMIM:615363
disease_name: ESTROGEN RESISTANCE
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: HNF1A
disease_id: OMIM:142330
disease_name: HEPATIC ADENOMAS, FAMILIAL
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:79084
disease_name: Familial partial lipodystrophy, Köbberling type
FPLD1
Familial partial lipodystrophy type 1
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: LMNA
disease_id: ORPHA:2348
disease_name: Familial partial lipodystrophy, Dunnigan type
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
gene_symbol: AKT2
disease_id: ORPHA:79085
disease_name: AKT2-related familial partial lipodystrophy
AKT2-related FPLD
gene_symbol: PHKB
disease_id: ORPHA:79240
disease_name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
Glycogen storage disease type 9B
Glycogen storage disease type IXb
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Glycogenosis type 9B
Glycogenosis type IXb
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: FOS
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: DMRT1
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: CBX2
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: DHH
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: MAP3K1
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: WT1
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: DHX37
disease_id: ORPHA:242
disease_name: 46,XY complete gonadal dysgenesis
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
gene_symbol: PHKA2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: PHKG2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: PANX1
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: WEE2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: PATL2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TUBB8
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TLE6
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: LMNB2
disease_id: OMIM:608709
disease_name: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: MSX1
disease_id: ORPHA:2228
disease_name: Hypodontia-dysplasia of nails syndrome
Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: FGFR1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: SPRY4
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: PROKR2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: FGF8
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: PROK2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: CHD7
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TACR3
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: DUSP6
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: NSMF
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: WDR11
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: NHLH2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: HS6ST1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: GNRH1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: GNRH1
disease_id: OMIM:614841
disease_name: HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRHR
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KISS1R
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: TAC3
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: FGF17
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KISS1
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: C14orf39
disease_id: OMIM:619203
disease_name: PREMATURE OVARIAN FAILURE 18
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: SPIDR
disease_id: OMIM:619665
disease_name: OVARIAN DYSGENESIS 9
gene_symbol: NDNF
disease_id: OMIM:618841
disease_name: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA
gene_symbol: ZPR1
disease_id: OMIM:619321
disease_name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
gene_symbol: LARS2
disease_id: OMIM:615300
disease_name: PERRAULT SYNDROME 4
gene_symbol: HFM1
disease_id: OMIM:615724
disease_name: PREMATURE OVARIAN FAILURE 9
gene_symbol: MCM8
disease_id: OMIM:612885
disease_name: PREMATURE OVARIAN FAILURE 10
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: ZSWIM7
disease_id: OMIM:619834
disease_name: OVARIAN DYSGENESIS 10
gene_symbol: NOBOX
disease_id: OMIM:611548
disease_name: PREMATURE OVARIAN FAILURE 5
gene_symbol: PSMC3IP
disease_id: OMIM:614324
disease_name: OVARIAN DYSGENESIS 3
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: HROB
disease_id: OMIM:620897
disease_name: OMIM:620897
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: BMP15
disease_id: OMIM:300510
disease_name: OVARIAN DYSGENESIS 2
gene_symbol: BMP15
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: CLPP
disease_id: OMIM:614129
disease_name: PERRAULT SYNDROME 3
gene_symbol: HARS2
disease_id: OMIM:614926
disease_name: PERRAULT SYNDROME 2
gene_symbol: POLR3H
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FIGLA
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FIGLA
disease_id: OMIM:612310
disease_name: PREMATURE OVARIAN FAILURE 6
gene_symbol: NUP107
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MRPS22
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BNC1
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MSH4
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: ERAL1
disease_id: OMIM:617565
disease_name: PERRAULT SYNDROME 6
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: STAG3
disease_id: OMIM:615723
disease_name: PREMATURE OVARIAN FAILURE 8
gene_symbol: PAX6
disease_id: OMIM:194072
disease_name: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: PRLR
disease_id: ORPHA:397685
disease_name: Familial hyperprolactinemia
Familial isolated prolactin receptor deficiency
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome