Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the anterior pituitary (HP:0011747)

Parent Node:
Abnormal circulating gonadotropin concentration (HP:0030338)

Parent Node:
Hyperpituitarism (HP:0010514)

..Starting node
..Increased circulating gonadotropin level (HP:0000837)

Term ID:

837

Name:

Increased circulating gonadotropin level

Synonym:

Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level

Definition:

Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.

Comments:

Reference:

HP:0000837

Genes and Diseases:

Child Nodes:

........

Elevated circulating follicle stimulating hormone level (HP:0008232)

........

Elevated circulating luteinizing hormone level (HP:0011969)

Sister Nodes:

Adrenocorticotropic hormone excess (HP:0011749)

Elevated circulating growth hormone concentration (HP:0000845)

Increased circulating prolactin concentration (HP:0000870)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	16
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5		3
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1	.	30
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	50
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1	.	50
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14		2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9	.	6
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	LHCGR CL E G H	3973	6585	OMIM:238320	Hypergonadotropic hypogonadism	.	67
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	25
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	5
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040282 - Frequent	2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8	.	4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0000837	HP:0000837	Increased circulating gonadotropin level	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5	.	3
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0000837	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0000837	HP:0011969	Elevated circulating luteinizing hormone level	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (76) :AR BMP15 BMPR1B BNC1 C14ORF39 CBX2 CCDC34 CDH23 CFTR CNBP CYB5A CYP11A1 CYP17A1 DHH DHX37 DIAPH2 DMRT3 ERCC6 ESR1 ESR2 FANCM FGD1 FIGLA FKBP6 FMR1 FOXL2 FSHB FSHR GATA4 GCNA GDF9 HFM1 HSD17B4 KISS1R KLHL10 LARS2 LHB LHCGR MAP3K1 MCM8 MCM9 MEIOB MRPS22 MSH4 MSH5 NANOS1 NR0B1 NR5A1 NSMCE2 NUP107 PNLDC1 POLA1 POLR3H POR PPP2R3C PSMC3IP SHOC1 SOHLH1 SOX9 SPIDR SRY STAG3 SYCE1 SYCP3 TAF4B TDRD9 TEX11 TEX14 TEX15 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7

Diseases (62) :OMIM:300068 ORPHA:99429 ORPHA:90797 ORPHA:243 OMIM:609441 OMIM:618723 ORPHA:399805 OMIM:619203 OMIM:613080 ORPHA:91347 OMIM:602668 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 ORPHA:168563 OMIM:273250 ORPHA:251510 OMIM:300511 OMIM:616946 ORPHA:785 OMIM:618187 OMIM:618086 OMIM:305400 OMIM:612310 OMIM:620103 OMIM:311360 OMIM:110100 ORPHA:572333 OMIM:229070 OMIM:233300 ORPHA:64739 OMIM:301077 OMIM:618014 OMIM:615724 OMIM:233400 OMIM:176400 OMIM:615300 OMIM:228300 OMIM:238320 OMIM:612885 OMIM:616185 OMIM:619938 OMIM:617442 ORPHA:399808 OMIM:612965 OMIM:612964 OMIM:617253 ORPHA:163976 ORPHA:95699 OMIM:618419 OMIM:614324 OMIM:619949 OMIM:619665 ORPHA:1772 OMIM:400045 OMIM:400044 OMIM:615723 ORPHA:347 OMIM:619146 OMIM:615842 OMIM:619834

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen