Human Phenotype Ontology

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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:
Abnormal circulating gonadotropin concentration (HP:0030338)

Grandparent Node:
Hyperpituitarism (HP:0010514)

Parent Node:
Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)

Parent Node:
Increased circulating gonadotropin level (HP:0000837)

..Starting node
..Elevated circulating follicle stimulating hormone level (HP:0008232)

Term ID:

8232

Name:

Elevated circulating follicle stimulating hormone level

Synonym:

Elevated follicle stimulating hormone; Elevated follicle-stimulating hormone; Elevated FSH level; Elevated plasma follicle stimulating hormone; Increased circulating follicle stimulating hormone level

Definition:

An elevated concentration of follicle-stimulating hormone in the blood.

Comments:

Reference:

HP:0008232

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated circulating luteinizing hormone level (HP:0011969)

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:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5	.	3
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	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:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	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:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	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:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0008232	HP:0008232	Elevated circulating follicle stimulating hormone level	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (47) :AR BMPR1B BNC1 C14ORF39 CBX2 CNBP CYB5A CYP11A1 CYP17A1 DHX37 DIAPH2 DMRT3 ERCC6 ESR2 FANCM FGD1 FIGLA FKBP6 FOXL2 GATA4 GCNA GDF9 KISS1R LHB MAP3K1 MCM8 MCM9 MSH4 MSH5 NR0B1 NR5A1 NSMCE2 POR PPP2R3C PSMC3IP SHOC1 SOX9 SPIDR SRY STAG3 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7

Diseases (42) :OMIM:300068 OMIM:609441 OMIM:618723 OMIM:619203 OMIM:613080 OMIM:602668 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:273250 ORPHA:251510 OMIM:300511 OMIM:616946 OMIM:618187 OMIM:618086 OMIM:305400 OMIM:612310 OMIM:620103 ORPHA:572333 OMIM:301077 OMIM:618014 OMIM:176400 OMIM:228300 OMIM:612885 OMIM:616185 OMIM:619938 OMIM:617442 OMIM:612965 OMIM:612964 OMIM:617253 ORPHA:95699 OMIM:618419 OMIM:614324 OMIM:619949 OMIM:619665 OMIM:400045 OMIM:400044 OMIM:615723 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.

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