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 hormone concentration (HP:0003117)

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

..Starting node
..Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)

Term ID:

30346

Name:

Abnormal circulating follicle-stimulating hormone concentration

Synonym:

Abnormal circulating follicle-stimulating hormone level

Definition:

An anomaly of the circulating level of follicle-stimulating hormone (FSH).

Comments:

Reference:

HP:0030346

Genes and Diseases:

Child Nodes:

........

Elevated circulating follicle stimulating hormone level (HP:0008232)

........

Decreased circulating follicle stimulating hormone level (HP:0030341)

Sister Nodes:

Abnormal circulating luteinizing hormone concentration (HP:0030345)

Decreased circulating gonadotropin concentration (HP:0030339)

Increased circulating gonadotropin level (HP:0000837)

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:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040284 - Very rare	125
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5		3
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	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:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	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:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0030346	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5	.	3
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030346	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:0030346	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:0030346	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:0030346	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:0030346	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:0030346	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:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0030346	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:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0030346	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:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0030346	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:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030346	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:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030346	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:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0030346	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:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0030346	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:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0030346	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0030346	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:0030346	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:0030346	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:0030346	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:0030346	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:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0030346	HP:0008232	Elevated circulating follicle stimulating hormone level	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (74) :AKT1 ANOS1 AR BAP1 BMPR1B BNC1 C14ORF39 CBX2 CNBP CPE CYB5A CYP11A1 CYP17A1 DHX37 DIAPH2 DMRT3 DMXL2 ERCC6 ESR2 FAM111A FANCM FGD1 FIGLA FKBP6 FOXL2 FSHB GATA4 GCNA GDF9 HESX1 KISS1 KISS1R LGR4 LHB LHX3 LHX4 MAP3K1 MCM8 MCM9 MSH4 MSH5 NF2 NHLH2 NR0B1 NR5A1 NSMCE2 OTX2 PDGFB PIK3CA POR POU1F1 PPP2R3C PRDM13 PROP1 PSMC3IP SEMA3A SHOC1 SMARCB1 SMARCE1 SMO SOX9 SPIDR SRY STAG3 SUFU TERT TRAF7 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7

Diseases (56) :ORPHA:2495 OMIM:308700 OMIM:300068 ORPHA:99429 OMIM:609441 OMIM:618723 OMIM:619203 OMIM:613080 OMIM:602668 OMIM:619326 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:273250 ORPHA:251510 OMIM:300511 ORPHA:453533 OMIM:616946 OMIM:618187 ORPHA:93325 OMIM:618086 OMIM:305400 OMIM:612310 OMIM:620103 ORPHA:572333 OMIM:229070 OMIM:301077 OMIM:618014 ORPHA:226307 OMIM:614842 OMIM:176400 OMIM:619613 OMIM:228300 OMIM:612885 OMIM:616185 OMIM:619938 OMIM:617442 OMIM:619755 OMIM:612965 OMIM:612964 OMIM:617253 OMIM:613986 ORPHA:95699 OMIM:618419 OMIM:619761 OMIM:614324 OMIM:614897 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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